humsavar.txt
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UniProt - Swiss-Prot Protein Knowledgebase
Swiss Institute of Bioinformatics (SIB); Geneva, Switzerland
European Bioinformatics Institute (EBI); Hinxton, United Kingdom
Protein Information Resource (PIR); Washington DC, USA
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Description: Human polymorphisms and disease mutations: index
Name: humsavar.txt
Release: 2012_01 of 25-Jan-2012
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Important note: variants classification is intended for research purposes
only, not for clinical and diagnostic use. The label disease variant is
assigned according to literature reports on probable disease-association
that can be based on theoretical reasons. Therefore this label must not be
considered as a definitive proof for the pathogenic role of a variant.
Statistics for single amino acid variants:
Disease variants: 22315
Polymorphisms: 36981
Unclassified variants: 6017
Total: 65313
Main Swiss-Prot AA Type of
gene name AC FTId change variant dbSNP Disease name
_________ __________ __________ ____________ ____________ ___________ _____________________
A1BG P04217 VAR_018369 p.His52Arg Polymorphism rs893184 -
A1BG P04217 VAR_018370 p.His395Arg Polymorphism rs2241788 -
A1CF Q9NQ94 VAR_052201 p.Val555Met Polymorphism rs9073 -
A1CF Q9NQ94 VAR_059821 p.Ala558Ser Polymorphism rs11817448 -
A2M P01023 VAR_000012 p.Arg704His Polymorphism rs1800434 -
A2M P01023 VAR_000013 p.Cys972Tyr Polymorphism rs1800433 -
A2M P01023 VAR_000014 p.Ile1000Val Polymorphism rs669 -
A2M P01023 VAR_026820 p.Asn639Asp Polymorphism rs226405 -
A2M P01023 VAR_026821 p.Leu815Gln Polymorphism rs3180392 -
A2ML1 A8K2U0 VAR_055463 p.Gly207Arg Polymorphism rs11047499 -
A2ML1 A8K2U0 VAR_055464 p.Cys970Tyr Polymorphism rs1558526 -
A2ML1 A8K2U0 VAR_055465 p.Thr1131Met Polymorphism rs7959680 -
A2ML1 A8K2U0 VAR_055466 p.Thr1412Ala Polymorphism rs7315591 -
A2ML1 A8K2U0 VAR_059083 p.Asp850Glu Polymorphism rs1860926 -
A2ML1 A8K2U0 VAR_059084 p.His1229Arg Polymorphism rs10219561 -
A4GALT Q9NPC4 VAR_014296 p.Met37Val Polymorphism rs11541159 -
A4GALT Q9NPC4 VAR_014297 p.Met183Lys Unclassified - -
A4GALT Q9NPC4 VAR_017508 p.Gly187Asp Polymorphism rs28940572 -
A4GALT Q9NPC4 VAR_017509 p.Pro251Leu Polymorphism rs28940571 -
A4GALT Q9NPC4 VAR_022320 p.Gln163Arg Polymorphism rs28915383 -
A4GNT Q9UNA3 VAR_022096 p.Ala218Asp Polymorphism rs2246945 -
AAAS Q9NRG9 VAR_012804 p.Gln15Lys Disease - Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS Q9NRG9 VAR_012805 p.His160Arg Disease - Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS Q9NRG9 VAR_012806 p.Ser263Pro Disease - Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS Q9NRG9 VAR_037060 p.Lys108Met Polymorphism rs13330 -
AACS Q86V21 VAR_038303 p.Ile118Val Polymorphism rs12831803 -
AACS Q86V21 VAR_060997 p.Ala470Val Polymorphism rs59883951 -
AADAC P22760 VAR_014798 p.Val281Ile Polymorphism rs1803155 -
AADACL2 Q6P093 VAR_038140 p.Ala186Ser Polymorphism rs1972977 -
AADACL2 Q6P093 VAR_038141 p.Leu343Ile Polymorphism rs1052562 -
AADACL3 Q5VUY0 VAR_060665 p.Cys195Phe Polymorphism rs7513079 -
AADACL3 Q5VUY0 VAR_060666 p.Ser47Pro Polymorphism rs3010877 -
AADACL3 Q5VUY0 VAR_060667 p.Leu71Met Polymorphism rs3000859 -
AADACL3 Q5VUY0 VAR_060668 p.Arg129Trp Polymorphism rs17038445 -
AADACL3 Q5VUY0 VAR_060670 p.Met250Ile Polymorphism rs3000931 -
AADACL3 Q5VUY0 VAR_060671 p.Pro280Leu Polymorphism rs11121969 -
AADAT Q8N5Z0 VAR_061005 p.Val243Ile Polymorphism rs56350236 -
AAGAB Q6PD74 VAR_021533 p.Ile132Leu Polymorphism rs7173826 -
AAK1 Q2M2I8 VAR_031129 p.Lys509Gln Polymorphism rs6715776 -
AAK1 Q2M2I8 VAR_040348 p.Ile59Val Polymorphism rs34535244 -
AAK1 Q2M2I8 VAR_040349 p.Gln533His Polymorphism - -
AAK1 Q2M2I8 VAR_040350 p.Val603Ala Polymorphism rs56038532 -
AAK1 Q2M2I8 VAR_040351 p.Thr694Met Polymorphism rs55889248 -
AAK1 Q2M2I8 VAR_040352 p.Pro725Thr Polymorphism rs35285785 -
AAK1 Q2M2I8 VAR_040353 p.Pro771Arg Polymorphism rs34422616 -
AAK1 Q2M2I8 VAR_040354 p.Gly835Asp Polymorphism - -
AAMP Q13685 VAR_037061 p.Ile250Val Polymorphism rs2305835 -
AANAT Q16613 VAR_048168 p.Arg15Cys Polymorphism rs34470791 -
AANAT Q16613 VAR_055086 p.Ala129Thr Disease rs28936679 Delayed sleep phase syndrome (DSPS) [MIM:614163]
AARD Q4LEZ3 VAR_043570 p.Gly96Arg Polymorphism rs16889283 -
AARS P49588 VAR_028204 p.Gly275Asp Polymorphism rs11537667 -
AARS P49588 VAR_063527 p.Arg329His Disease - Charcot-Marie-Tooth disease type 2N (CMT2N) [MIM:613287]
AARS2 Q5JTZ9 VAR_027609 p.Ile339Val Polymorphism rs324136 -
AARS2 Q5JTZ9 VAR_027610 p.Ala484Asp Polymorphism rs495294 -
AARS2 Q5JTZ9 VAR_057357 p.Met850Val Polymorphism rs35783144 -
AARS2 Q5JTZ9 VAR_065956 p.Leu155Arg Disease - Combined oxidative phosphorylation deficiency type 8 (COXPD8) [MIM:614096]
AARS2 Q5JTZ9 VAR_065957 p.Arg592Trp Disease - Combined oxidative phosphorylation deficiency type 8 (COXPD8) [MIM:614096]
AASDH Q4L235 VAR_038309 p.Lys368Arg Polymorphism rs3796543 -
AASDH Q4L235 VAR_038310 p.Ala747Val Polymorphism rs3796544 -
AASDH Q4L235 VAR_038311 p.Val774Ile Polymorphism rs3796545 -
AASDH Q4L235 VAR_038312 p.Thr865Ala Polymorphism rs12498340 -
AASDH Q4L235 VAR_038313 p.Tyr1030Asp Polymorphism rs8340 -
AASDH Q4L235 VAR_061008 p.Ile61Val Polymorphism rs34543011 -
AASDH Q4L235 VAR_061009 p.Pro93Arg Polymorphism rs34228795 -
AAT1 Q7Z4T9 VAR_030243 p.Ala207Pro Polymorphism rs6438544 -
AAT1 Q7Z4T9 VAR_030244 p.Ser253Thr Polymorphism rs9817771 -
AAT1 Q7Z4T9 VAR_030245 p.Ser320Cys Polymorphism rs9819218 -
AATK Q6ZMQ8 VAR_027267 p.Thr118Met Polymorphism rs8082016 -
AATK Q6ZMQ8 VAR_032679 p.Ser81Phe Unclassified - An ovarian mucinous carcinoma sample
AATK Q6ZMQ8 VAR_032680 p.Leu97Val Unclassified - A lung adenocarcinoma sample
AATK Q6ZMQ8 VAR_032681 p.Met104Val Unclassified - An ovarian mucinous carcinoma sample
AATK Q6ZMQ8 VAR_032682 p.Gly703Cys Polymorphism rs7503604 -
AATK Q6ZMQ8 VAR_032683 p.Ser815Arg Polymorphism rs56032966 -
AATK Q6ZMQ8 VAR_032684 p.Ser923Leu Polymorphism rs56313973 -
AATK Q6ZMQ8 VAR_032685 p.Glu1160Lys Polymorphism rs55793641 -
AATK Q6ZMQ8 VAR_032686 p.Pro1192Ser Polymorphism rs55856613 -
AATK Q6ZMQ8 VAR_032687 p.Phe1266Ser Polymorphism rs36000545 -
AATK Q6ZMQ8 VAR_032688 p.Ala1332Thr Polymorphism rs55713566 -
ABAT P80404 VAR_008883 p.Arg220Lys Disease - GABA transaminase deficiency (GABATD) [MIM:613163]
ABAT P80404 VAR_018979 p.Gln56Arg Polymorphism rs1731017 -
ABCA1 O95477 VAR_009145 p.Val399Ala Polymorphism rs9282543 -
ABCA1 O95477 VAR_009146 p.Arg587Trp Disease rs2853574 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009147 p.Trp590Ser Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009148 p.Gln597Arg Disease rs2853578 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009150 p.Asn935Ser Disease rs28937313 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009151 p.Ala937Val Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009152 p.Asp1289Asn Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009153 p.Cys1477Arg Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009154 p.Ile1517Arg Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009155 p.Asn1800His Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_012618 p.Arg219Lys Polymorphism rs2230806 -
ABCA1 O95477 VAR_012619 p.Arg230Cys Disease rs9282541 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
ABCA1 O95477 VAR_012620 p.Ala255Thr Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_012621 p.Val771Met Polymorphism rs2066718 -
ABCA1 O95477 VAR_012622 p.Thr774Pro Polymorphism rs35819696 -
ABCA1 O95477 VAR_012623 p.Lys776Asn Unclassified - -
ABCA1 O95477 VAR_012624 p.Val825Ile Polymorphism rs2066715 -
ABCA1 O95477 VAR_012625 p.Ile883Met Polymorphism rs2066714 -
ABCA1 O95477 VAR_012626 p.Thr929Ile Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_012627 p.Ala1046Asp Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_012628 p.Met1091Thr Disease - High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
ABCA1 O95477 VAR_012629 p.Glu1172Asp Polymorphism rs33918808 -
ABCA1 O95477 VAR_012630 p.Ser1506Leu Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_012631 p.Lys1587Arg Polymorphism rs2230808 -
ABCA1 O95477 VAR_012632 p.Asn1611Asp Unclassified - -
ABCA1 O95477 VAR_012633 p.Ser1731Cys Polymorphism - -
ABCA1 O95477 VAR_012635 p.Arg2081Trp Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_012636 p.Pro2150Leu Disease - High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
ABCA1 O95477 VAR_012637 p.Leu2168Pro Polymorphism rs2853577 -
ABCA1 O95477 VAR_012638 p.Ile1555Thr Polymorphism rs1997618 -
ABCA1 O95477 VAR_012639 p.Leu1648Pro Polymorphism rs1883024 -
ABCA1 O95477 VAR_017016 p.Ser1181Phe Unclassified - -
ABCA1 O95477 VAR_017529 p.Pro85Leu Disease - High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
ABCA1 O95477 VAR_017530 p.Asp1099Tyr Disease rs28933692 High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
ABCA1 O95477 VAR_035724 p.Glu210Asp Unclassified - A colorectal cancer sample
ABCA1 O95477 VAR_035725 p.Asp917Tyr Unclassified - A colorectal cancer sample
ABCA1 O95477 VAR_035726 p.Ala1407Thr Unclassified - A colorectal cancer sample
ABCA1 O95477 VAR_035727 p.Ala2109Thr Unclassified - A colorectal cancer sample
ABCA1 O95477 VAR_037968 p.Asn935His Disease rs28937314 High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_037969 p.Val1054Ile Polymorphism rs13306072 -
ABCA1 O95477 VAR_037970 p.Arg1680Trp Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_037971 p.Phe2009Ser Disease - High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
ABCA1 O95477 VAR_062481 p.Pro248Ala Polymorphism - -
ABCA1 O95477 VAR_062482 p.Glu284Lys Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062483 p.Ser364Cys Polymorphism - -
ABCA1 O95477 VAR_062484 p.Lys401Gln Polymorphism - -
ABCA1 O95477 VAR_062485 p.Tyr482Cys Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062486 p.Arg496Trp Unclassified - -
ABCA1 O95477 VAR_062487 p.Trp590Leu Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062488 p.Arg638Gln Unclassified - -
ABCA1 O95477 VAR_062489 p.Thr774Ser Polymorphism - -
ABCA1 O95477 VAR_062490 p.Glu815Gly Unclassified - -
ABCA1 O95477 VAR_062491 p.Trp840Arg Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062492 p.Pro1065Ser Polymorphism - -
ABCA1 O95477 VAR_062493 p.Arg1068Cys Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062494 p.Gly1216Val Polymorphism - -
ABCA1 O95477 VAR_062495 p.Arg1341Thr Unclassified - -
ABCA1 O95477 VAR_062496 p.Ser1376Gly Polymorphism - -
ABCA1 O95477 VAR_062497 p.Leu1379Phe Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062498 p.Arg1615Gln Unclassified - -
ABCA1 O95477 VAR_062499 p.Ala1670Thr Unclassified - -
ABCA1 O95477 VAR_062500 p.Arg1680Gln Unclassified - -
ABCA1 O95477 VAR_062501 p.Val1704Asp Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062502 p.Arg1851Gln Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062503 p.Arg1897Trp Disease - High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
ABCA1 O95477 VAR_062504 p.Arg1901Ser Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062505 p.Arg1925Gln Unclassified - -
ABCA1 O95477 VAR_062506 p.Phe2163Ser Unclassified - -
ABCA1 O95477 VAR_062507 p.Gln2196His Disease - High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062508 p.Asp2243Glu Polymorphism - -
ABCA1 O95477 VAR_062509 p.Val2244Ile Unclassified - -
ABCA10 Q8WWZ4 VAR_028384 p.Pro203Ser Polymorphism rs9909216 -
ABCA10 Q8WWZ4 VAR_028385 p.Ile287Val Polymorphism rs11657804 -
ABCA10 Q8WWZ4 VAR_028386 p.Met916Thr Polymorphism rs4968849 -
ABCA10 Q8WWZ4 VAR_055469 p.Arg1322Trp Polymorphism rs10491178 -
ABCA12 Q86UK0 VAR_019597 p.Ser459Thr Polymorphism rs7560008 -
ABCA12 Q86UK0 VAR_019598 p.Asn1380Ser Disease rs28940269 Ichthyosis lamellar type 2 (LI2) [MIM:601277]
ABCA12 Q86UK0 VAR_019599 p.Gly1381Glu Disease rs28940268 Ichthyosis lamellar type 2 (LI2) [MIM:601277]
ABCA12 Q86UK0 VAR_019600 p.Arg1514His Disease rs28940270 Ichthyosis lamellar type 2 (LI2) [MIM:601277]
ABCA12 Q86UK0 VAR_019601 p.Glu1539Lys Disease rs28940271 Ichthyosis lamellar type 2 (LI2) [MIM:601277]
ABCA12 Q86UK0 VAR_019602 p.Gly1651Ser Disease rs28940568 Ichthyosis lamellar type 2 (LI2) [MIM:601277]
ABCA12 Q86UK0 VAR_027444 p.Glu550Gly Polymorphism rs16853149 -
ABCA12 Q86UK0 VAR_027445 p.Ser777Thr Polymorphism rs7560008 -
ABCA12 Q86UK0 VAR_027446 p.Gly1251Asp Polymorphism rs13414448 -
ABCA12 Q86UK0 VAR_027447 p.Arg1546Cys Polymorphism rs13401480 -
ABCA12 Q86UK0 VAR_027448 p.Glu2064Lys Polymorphism rs1213011 -
ABCA12 Q86UK0 VAR_027449 p.Asp2365Asn Disease rs726070 Ichthyosis harlequin (HI) [MIM:242500]
ABCA12 Q86UK0 VAR_055473 p.Trp199Cys Polymorphism rs16853238 -
ABCA12 Q86UK0 VAR_055474 p.Asn237His Polymorphism rs11890512 -
ABCA12 Q86UK0 VAR_055475 p.Gln274Arg Polymorphism rs11890468 -
ABCA12 Q86UK0 VAR_055476 p.Arg287Gly Polymorphism rs11891778 -
ABCA12 Q86UK0 VAR_062663 p.Ala476Val Unclassified - A pancreatic ductal adenocarcinoma sample
ABCA13 Q86UQ4 VAR_055470 p.Thr1508Ile Polymorphism rs6583483 -
ABCA13 Q86UQ4 VAR_059087 p.Pro506Leu Polymorphism rs1880738 -
ABCA13 Q86UQ4 VAR_059088 p.Arg555His Polymorphism rs2361519 -
ABCA13 Q86UQ4 VAR_059089 p.Ile767Ser Polymorphism rs17712293 -
ABCA13 Q86UQ4 VAR_059090 p.Glu799Lys Polymorphism rs17547816 -
ABCA13 Q86UQ4 VAR_059091 p.Ile1434Val Polymorphism rs17132195 -
ABCA13 Q86UQ4 VAR_059092 p.Phe1540Leu Polymorphism rs17712299 -
ABCA13 Q86UQ4 VAR_059093 p.Ile1889Lys Polymorphism rs17132197 -
ABCA13 Q86UQ4 VAR_059094 p.Asn2033Asp Polymorphism rs17661364 -
ABCA13 Q86UQ4 VAR_059095 p.Ser2154Leu Polymorphism rs17092911 -
ABCA13 Q86UQ4 VAR_059096 p.Ala2178Glu Polymorphism rs1880736 -
ABCA13 Q86UQ4 VAR_059097 p.Leu2212Ser Polymorphism rs17132198 -
ABCA13 Q86UQ4 VAR_059098 p.Lys2436Arg Polymorphism rs17132206 -
ABCA13 Q86UQ4 VAR_059099 p.Ser2537Ala Polymorphism rs17132208 -
ABCA13 Q86UQ4 VAR_059100 p.Arg2674Trp Polymorphism rs2222648 -
ABCA13 Q86UQ4 VAR_059101 p.Ala3142Val Polymorphism rs3931814 -
ABCA13 Q86UQ4 VAR_059102 p.Tyr3851Phe Polymorphism rs17132289 -
ABCA13 Q86UQ4 VAR_059103 p.Asn4277Asp Polymorphism rs4917152 -
ABCA13 Q86UQ4 VAR_059104 p.Gln4302Arg Polymorphism rs4917153 -
ABCA13 Q86UQ4 VAR_059105 p.Pro4335Ala Polymorphism rs17132370 -
ABCA2 Q9BZC7 VAR_044526 p.His583Pro Polymorphism rs908828 -
ABCA2 Q9BZC7 VAR_044527 p.Phe674Val Polymorphism rs2090625 -
ABCA3 Q99758 VAR_023497 p.Leu101Pro Disease rs28936412 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]
ABCA3 Q99758 VAR_023498 p.Asn568Asp Disease - Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]
ABCA3 Q99758 VAR_023499 p.Leu1553Pro Disease - Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]
ABCA3 Q99758 VAR_023500 p.Gln1591Pro Disease rs28936691 Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]
ABCA3 Q99758 VAR_025061 p.Asn140His Polymorphism rs45447801 -
ABCA3 Q99758 VAR_025062 p.Pro766Ser Polymorphism rs45592239 -
ABCA3 Q99758 VAR_035728 p.Leu290Met Unclassified - A breast cancer sample
ABCA3 Q99758 VAR_035729 p.Glu801Asp Unclassified - A breast cancer sample
ABCA3 Q99758 VAR_035730 p.His1069Gln Unclassified - A breast cancer sample
ABCA4 P78363 VAR_008398 p.Arg18Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008399 p.Arg24His Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008400 p.Cys54Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008401 p.Gly65Glu Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008401 p.Gly65Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008402 p.Cys75Gly Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008403 p.Asn96Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008404 p.Asn96His Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008405 p.Ala192Thr Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008406 p.Arg212Cys Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008406 p.Arg212Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008407 p.Asp249Gly Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008408 p.Thr300Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008409 p.Ser336Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008410 p.Tyr340Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008411 p.Ala407Val Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008411 p.Ala407Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008412 p.Ser445Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008413 p.Glu471Lys Disease rs1800548 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008413 p.Glu471Lys Disease rs1800548 Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008414 p.Asp523Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008415 p.Leu541Pro Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008415 p.Leu541Pro Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_008415 p.Leu541Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008416 p.Arg572Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008417 p.Arg572Gln Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008418 p.Arg602Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008419 p.Phe608Ile Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008420 p.Val643Gly Polymorphism - -
ABCA4 P78363 VAR_008421 p.Asp645Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008422 p.Gly818Glu Disease - Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008422 p.Gly818Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008423 p.Trp821Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008424 p.Gly851Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008425 p.Gly863Ala Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008425 p.Gly863Ala Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_008425 p.Gly863Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008426 p.Thr901Ala Polymorphism - -
ABCA4 P78363 VAR_008427 p.Val931Met Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008428 p.Arg943Gln Polymorphism rs1801581 -
ABCA4 P78363 VAR_008429 p.Gln957Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008430 p.Asn965Ser Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008431 p.Gly978Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008432 p.Glu1036Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008433 p.Ala1038Val Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008433 p.Ala1038Val Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_008433 p.Ala1038Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008434 p.Ser1071Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008435 p.Val1072Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008436 p.Glu1087Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008437 p.Thr1112Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008438 p.Glu1122Lys Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008438 p.Glu1122Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008439 p.Arg1129Leu Disease rs1801269 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008439 p.Arg1129Leu Disease rs1801269 Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_008439 p.Arg1129Leu Disease rs1801269 Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008440 p.Leu1201Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008441 p.Asp1204Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008442 p.Pro1314Thr Polymorphism - -
ABCA4 P78363 VAR_008443 p.Pro1380Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008444 p.His1406Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008445 p.Trp1408Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008446 p.Trp1408Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008447 p.Thr1428Met Disease rs1800549 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008448 p.Val1429Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008449 p.Val1433Ile Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008450 p.Gly1439Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008451 p.Phe1440Ser Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008452 p.Pro1486Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008453 p.Cys1488Arg Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_008453 p.Cys1488Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008454 p.Cys1490Tyr Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008454 p.Cys1490Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008455 p.Arg1517Ser Disease rs1800550 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008456 p.Thr1526Met Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008457 p.Asp1532Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008458 p.Ile1562Thr Disease rs1762111 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008458 p.Ile1562Thr Disease rs1762111 Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008458 p.Ile1562Thr Disease rs1762111 Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_008458 p.Ile1562Thr Disease rs1762111 Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008459 p.Gly1578Arg Disease rs1800551 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008460 p.Leu1631Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008461 p.Arg1640Trp Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008461 p.Arg1640Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008462 p.Tyr1652Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008463 p.Ser1696Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008464 p.Gln1703Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008465 p.Leu1729Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008466 p.Ala1794Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008467 p.Arg1820Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008468 p.His1838Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008469 p.Arg1843Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008470 p.Asn1868Ile Polymorphism rs1801466 -
ABCA4 P78363 VAR_008471 p.Gly1886Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008473 p.Arg1898His Disease rs1800552 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008473 p.Arg1898His Disease rs1800552 Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008474 p.Pro1948Leu Polymorphism - -
ABCA4 P78363 VAR_008475 p.Gly1961Glu Disease rs1800553 Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_008475 p.Gly1961Glu Disease rs1800553 Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008476 p.Leu1970Phe Disease rs1800554 Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008476 p.Leu1970Phe Disease rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_008477 p.Gly1977Ser Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008478 p.Leu2027Phe Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_008478 p.Leu2027Phe Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008480 p.Arg2030Gln Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_008480 p.Arg2030Gln Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008481 p.Val2050Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008482 p.Arg2077Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008483 p.Glu2096Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008484 p.Arg2106Cys Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_008484 p.Arg2106Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008485 p.Arg2107His Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008486 p.His2128Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008487 p.Glu2131Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008488 p.Arg2139Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008489 p.Cys2150Tyr Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008489 p.Cys2150Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008490 p.Lys2160Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008491 p.Asp2177Asn Polymorphism rs1800555 -
ABCA4 P78363 VAR_008492 p.Ala60Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008493 p.Asp846His Polymorphism - -
ABCA4 P78363 VAR_008494 p.Ile1846Thr Polymorphism - -
ABCA4 P78363 VAR_008495 p.Arg2038Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_009157 p.Ser2255Ile Polymorphism rs6666652 -
ABCA4 P78363 VAR_012493 p.Leu11Pro Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_012495 p.Asn58Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012496 p.Ala60Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012497 p.Ala60Thr Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012498 p.Pro68Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012499 p.Pro68Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012500 p.Gly72Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012501 p.Val77Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012502 p.Ser100Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012503 p.Arg152Gln Polymorphism - -
ABCA4 P78363 VAR_012504 p.Ile156Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012505 p.Gln190His Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012506 p.Ser206Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012507 p.Arg212His Polymorphism rs6657239 -
ABCA4 P78363 VAR_012508 p.Arg220Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012509 p.Cys230Ser Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012510 p.Leu244Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012511 p.Asn247Ser Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012512 p.Pro309Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012513 p.Glu328Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012514 p.Arg333Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012515 p.Trp339Gly Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_012516 p.Asn380Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012517 p.His423Arg Polymorphism rs3112831 -
ABCA4 P78363 VAR_012518 p.Phe525Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012519 p.Arg537Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012520 p.Ala549Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012521 p.Gly550Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012522 p.Val552Ile Polymorphism - -
ABCA4 P78363 VAR_012523 p.Arg602Gln Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012524 p.Gly607Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012525 p.Gly607Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012526 p.Gln635Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012527 p.Gln636His Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012528 p.Val643Met Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012529 p.Arg653Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012530 p.Leu686Ser Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012531 p.Thr716Met Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012532 p.Cys764Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012533 p.Ser765Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012534 p.Ser765Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012535 p.Val767Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012536 p.Leu797Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012537 p.Ile824Thr Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012538 p.Val849Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012539 p.Ala854Thr Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012541 p.Phe873Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012542 p.Thr897Ile Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012543 p.His914Arg Polymorphism - -
ABCA4 P78363 VAR_012544 p.Val935Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012545 p.Arg943Trp Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_012545 p.Arg943Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012546 p.Thr959Ile Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012547 p.Thr971Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012548 p.Thr972Asn Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012549 p.Ser974Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012550 p.Val989Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012551 p.Gly991Arg Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_012552 p.Leu1014Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012553 p.Thr1019Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012554 p.Thr1019Met Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012555 p.Glu1022Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012556 p.Lys1031Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012557 p.Arg1055Trp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012558 p.Ser1063Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012559 p.Glu1087Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012560 p.Gly1091Glu Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_012561 p.Arg1097Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012562 p.Arg1108Cys Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_012562 p.Arg1108Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012563 p.Arg1108His Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012564 p.Arg1108Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012565 p.Arg1129Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012566 p.Lys1148Thr Polymorphism - -
ABCA4 P78363 VAR_012567 p.Leu1250Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012568 p.Thr1253Met Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_012569 p.Arg1300Gln Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012570 p.Leu1388Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012571 p.Glu1399Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012572 p.Leu1430Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012573 p.Phe1440Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012574 p.Arg1443His Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012575 p.Cys1488Phe Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012576 p.Cys1488Tyr Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012577 p.Gly1508Cys Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_012578 p.Gln1513Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012579 p.Leu1525Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012580 p.Thr1537Met Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012581 p.Ala1598Asp Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_012582 p.Ala1637Thr Polymorphism - -
ABCA4 P78363 VAR_012583 p.Arg1640Gln Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_012583 p.Arg1640Gln Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_012583 p.Arg1640Gln Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012585 p.Ser1689Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012586 p.Val1693Ile Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012587 p.Arg1705Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012588 p.Met1733Thr Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012589 p.Ser1736Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012590 p.Gly1748Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012592 p.Leu1763Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012593 p.Pro1776Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012594 p.Pro1780Ala Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012595 p.Asn1799Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012596 p.Asn1805Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012597 p.Glu1817Asp Polymorphism - -
ABCA4 P78363 VAR_012598 p.Val1884Glu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012599 p.Glu1885Lys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012600 p.Val1896Asp Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012601 p.Val1921Met Polymorphism - -
ABCA4 P78363 VAR_012602 p.Leu1940Pro Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_012602 p.Leu1940Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012603 p.Leu1971Arg Disease - Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_012604 p.Gly1975Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012605 p.Leu2035Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012606 p.Gly2059Ala Polymorphism - -
ABCA4 P78363 VAR_012607 p.Leu2060Arg Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_012608 p.Tyr2071Phe Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012609 p.Arg2077Gly Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012610 p.Arg2107Cys Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012611 p.Gly2146Asp Disease - Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_012612 p.Arg2149Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012613 p.Cys2150Arg Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012614 p.Ala2216Val Polymorphism - -
ABCA4 P78363 VAR_012615 p.Leu2229Pro Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012616 p.Leu2241Val Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012617 p.Arg2263Leu Disease - Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_014703 p.Ser752Ile Polymorphism rs1801369 -
ABCA4 P78363 VAR_035736 p.Thr224Met Unclassified - A breast cancer sample
ABCA5 Q8WWZ7 VAR_027571 p.Gln93Lys Polymorphism rs12383 -
ABCA5 Q8WWZ7 VAR_027572 p.Gln484Arg Polymorphism rs17686569 -
ABCA5 Q8WWZ7 VAR_027573 p.Met753Val Polymorphism rs9898003 -
ABCA5 Q8WWZ7 VAR_027574 p.Ala832Ser Polymorphism rs536009 -
ABCA5 Q8WWZ7 VAR_027575 p.Met960Val Polymorphism rs557491 -
ABCA5 Q8WWZ7 VAR_048128 p.Ala178Thr Polymorphism rs11544715 -
ABCA5 Q8WWZ7 VAR_048129 p.Asp1260Gly Polymorphism rs11544716 -
ABCA6 Q8N139 VAR_027576 p.Val282Ile Polymorphism rs4968839 -
ABCA6 Q8N139 VAR_027577 p.Asn610Tyr Polymorphism rs9282554 -
ABCA6 Q8N139 VAR_027578 p.Met698Ile Polymorphism rs9282553 -
ABCA6 Q8N139 VAR_027579 p.Met875Ile Polymorphism rs7212506 -
ABCA6 Q8N139 VAR_027580 p.Asn1322Ser Polymorphism rs2302134 -
ABCA7 Q8IZY2 VAR_027581 p.Glu188Gly Polymorphism rs3764645 -
ABCA7 Q8IZY2 VAR_027582 p.Thr319Ala Polymorphism rs3752232 -
ABCA7 Q8IZY2 VAR_027583 p.His395Arg Polymorphism rs3764647 -
ABCA7 Q8IZY2 VAR_027584 p.Arg463His Polymorphism rs3752233 -
ABCA7 Q8IZY2 VAR_027585 p.Asn718Thr Polymorphism rs3752239 -
ABCA7 Q8IZY2 VAR_027586 p.Arg1349Gln Polymorphism rs3745842 -
ABCA7 Q8IZY2 VAR_027587 p.Gly1527Ala Polymorphism rs3752246 -
ABCA7 Q8IZY2 VAR_027588 p.Gln1686Arg Polymorphism rs4147918 -
ABCA7 Q8IZY2 VAR_027589 p.Ala2045Ser Polymorphism rs4147934 -
ABCA7 Q8IZY2 VAR_060985 p.Ala676Thr Polymorphism rs59851484 -
ABCA8 O94911 VAR_027590 p.Thr256Ala Polymorphism rs16973446 -
ABCA8 O94911 VAR_027591 p.Gly331Ser Polymorphism rs4147979 -
ABCA8 O94911 VAR_027592 p.Tyr489Phe Polymorphism rs12150510 -
ABCA8 O94911 VAR_027593 p.Cys680Gly Polymorphism rs16973424 -
ABCA8 O94911 VAR_048130 p.Ala416Val Polymorphism rs35621847 -
ABCA8 O94911 VAR_048131 p.Leu619Arg Polymorphism rs35844316 -
ABCA8 O94911 VAR_048132 p.Gly1430Ser Polymorphism rs35403175 -
ABCA9 Q8IUA7 VAR_027594 p.Arg353His Polymorphism rs1860447 -
ABCA9 Q8IUA7 VAR_027595 p.Asn785Ser Polymorphism rs17684521 -
ABCA9 Q8IUA7 VAR_027596 p.Lys1306Thr Polymorphism rs2302294 -
ABCA9 Q8IUA7 VAR_027597 p.Gly1356Ser Polymorphism rs9916254 -
ABCB1 P08183 VAR_013361 p.Ser893Ala Polymorphism rs2032582 -
ABCB1 P08183 VAR_013362 p.Ser893Thr Polymorphism rs2032582 -
ABCB1 P08183 VAR_014704 p.Asn21Asp Polymorphism rs9282564 -
ABCB1 P08183 VAR_015001 p.Phe103Leu Polymorphism - -
ABCB1 P08183 VAR_015002 p.Gly185Val Polymorphism rs1128501 -
ABCB1 P08183 VAR_015003 p.Ser400Asn Polymorphism rs2229109 -
ABCB1 P08183 VAR_015004 p.Ala999Thr Polymorphism - -
ABCB1 P08183 VAR_015005 p.Gln1107Pro Polymorphism rs55852620 -
ABCB1 P08183 VAR_018351 p.Glu108Lys Polymorphism - -
ABCB1 P08183 VAR_018352 p.Met986Val Polymorphism - -
ABCB1 P08183 VAR_018353 p.Val1251Ile Polymorphism rs28364274 -
ABCB1 P08183 VAR_022276 p.Phe17Leu Polymorphism rs28381804 -
ABCB1 P08183 VAR_022277 p.Glu566Lys Polymorphism rs28381902 -
ABCB1 P08183 VAR_022278 p.Arg593Cys Polymorphism rs28381914 -
ABCB1 P08183 VAR_022279 p.Ile836Val Polymorphism rs28381967 -
ABCB1 P08183 VAR_022280 p.Pro1051Ala Polymorphism rs28401798 -
ABCB1 P08183 VAR_022281 p.Ser1141Thr Polymorphism rs2229107 -
ABCB1 P08183 VAR_035737 p.Lys887Asn Unclassified - A colorectal cancer sample
ABCB1 P08183 VAR_055423 p.Asn44Ser Polymorphism rs1202183 -
ABCB1 P08183 VAR_055424 p.Ala80Glu Polymorphism rs9282565 -
ABCB1 P08183 VAR_055425 p.Ile261Val Polymorphism rs36008564 -
ABCB1 P08183 VAR_055426 p.Ala599Thr Polymorphism rs2235036 -
ABCB1 P08183 VAR_055427 p.Arg669Cys Polymorphism rs35023033 -
ABCB1 P08183 VAR_055428 p.Val801Met Polymorphism rs2235039 -
ABCB1 P08183 VAR_055429 p.Ile829Val Polymorphism rs2032581 -
ABCB10 Q9NRK6 VAR_013702 p.Ala150Ser Polymorphism rs4148756 -
ABCB10 Q9NRK6 VAR_031435 p.Asp545Asn Polymorphism rs35698797 -
ABCB10 Q9NRK6 VAR_035735 p.Arg471Thr Unclassified - A breast cancer sample
ABCB10 Q9NRK6 VAR_048133 p.Arg242Gly Polymorphism rs17584642 -
ABCB11 O95342 VAR_010271 p.Glu297Gly Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_010271 p.Glu297Gly Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013332 p.Val284Leu Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013333 p.Val444Ala Polymorphism rs2287622 -
ABCB11 O95342 VAR_013334 p.Lys461Glu Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013335 p.Asp482Gly Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013336 p.Gly982Arg Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013337 p.Gly1004Asp Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013338 p.Arg1153Cys Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013339 p.Arg1268Gln Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_030386 p.Glu186Gly Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_030387 p.Ile206Val Polymorphism rs11568357 -
ABCB11 O95342 VAR_030388 p.Gly238Val Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_030389 p.Arg299Lys Polymorphism rs2287617 -
ABCB11 O95342 VAR_030390 p.Cys336Ser Disease - Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_030391 p.Arg432Thr Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_030392 p.Ala570Thr Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_030393 p.Met677Val Polymorphism rs11568364 -
ABCB11 O95342 VAR_030394 p.Thr923Pro Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_030395 p.Ala926Pro Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_030396 p.Arg1050Cys Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_030397 p.Arg1128His Disease - Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_030398 p.Glu1186Lys Polymorphism rs1521808 -
ABCB11 O95342 VAR_035349 p.Val284Ala Polymorphism - -
ABCB11 O95342 VAR_035350 p.Arg616Gly Polymorphism - -
ABCB11 O95342 VAR_035351 p.Thr619Ala Polymorphism - -
ABCB11 O95342 VAR_035352 p.Arg698His Polymorphism - -
ABCB11 O95342 VAR_035353 p.Ala865Val Polymorphism - -
ABCB11 O95342 VAR_035354 p.Arg958Gln Polymorphism - -
ABCB11 O95342 VAR_043074 p.Arg415Gln Polymorphism - -
ABCB11 O95342 VAR_043075 p.Asn591Ser Unclassified - -
ABCB11 O95342 VAR_043076 p.Asp676Tyr Unclassified - -
ABCB11 O95342 VAR_043077 p.Gly855Arg Unclassified - -
ABCB11 O95342 VAR_055472 p.Ser56Leu Polymorphism rs11568361 -
ABCB11 O95342 VAR_059106 p.Val444Asp Polymorphism rs2287622 -
ABCB11 O95342 VAR_059107 p.Val444Gly Polymorphism rs2287622 -
ABCB4 P21439 VAR_020223 p.Leu238Val Polymorphism rs45596335 -
ABCB4 P21439 VAR_020225 p.Arg652Gly Polymorphism rs2230028 -
ABCB4 P21439 VAR_023501 p.Thr175Ala Polymorphism rs58238559 -
ABCB4 P21439 VAR_023502 p.Ser320Phe Disease - Gallbladder disease type 1 (GBD1) [MIM:600803]
ABCB4 P21439 VAR_023502 p.Ser320Phe Disease - Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
ABCB4 P21439 VAR_023503 p.Ala546Asp Disease - Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
ABCB4 P21439 VAR_023504 p.Pro1168Ser Disease - Gallbladder disease type 1 (GBD1) [MIM:600803]
ABCB4 P21439 VAR_024359 p.Arg788Gln Polymorphism - -
ABCB4 P21439 VAR_030763 p.Ile263Val Polymorphism rs45547936 -
ABCB4 P21439 VAR_030765 p.Thr651Asn Polymorphism rs45476795 -
ABCB4 P21439 VAR_043078 p.Asp87Glu Polymorphism - -
ABCB4 P21439 VAR_043079 p.Pro95Ser Polymorphism - -
ABCB4 P21439 VAR_043080 p.Trp138Arg Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043081 p.Arg150Lys Disease - Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
ABCB4 P21439 VAR_043082 p.Phe165Ile Disease - Gallbladder disease type 1 (GBD1) [MIM:600803]
ABCB4 P21439 VAR_043083 p.Met301Thr Disease - Gallbladder disease type 1 (GBD1) [MIM:600803]
ABCB4 P21439 VAR_043084 p.Ser346Ile Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043085 p.Ile367Val Polymorphism - -
ABCB4 P21439 VAR_043086 p.Glu395Gly Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043087 p.Thr424Ala Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043088 p.Val425Met Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043089 p.Glu450Gly Polymorphism - -
ABCB4 P21439 VAR_043090 p.Glu528Asp Polymorphism rs8187797 -
ABCB4 P21439 VAR_043091 p.Gly535Asp Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043092 p.Ile541Phe Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043093 p.Leu556Arg Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043094 p.Asp564Gly Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043095 p.Arg590Gln Polymorphism rs45575636 -
ABCB4 P21439 VAR_043096 p.Leu591Gln Disease - Gallbladder disease type 1 (GBD1) [MIM:600803]
ABCB4 P21439 VAR_043097 p.Phe711Ser Disease - Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043098 p.Gly742Ser Polymorphism - -
ABCB4 P21439 VAR_043099 p.Gly762Glu Disease - Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
ABCB4 P21439 VAR_043100 p.Ile764Leu Unclassified - -
ABCB4 P21439 VAR_043101 p.Thr775Met Polymorphism - -
ABCB4 P21439 VAR_043102 p.Ala934Thr Disease - Gallbladder disease type 1 (GBD1) [MIM:600803]
ABCB4 P21439 VAR_043103 p.Gly983Ser Disease rs56187107 Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043104 p.Leu1082Gln Unclassified - -
ABCB5 Q2M3G0 VAR_028387 p.Lys115Glu Polymorphism rs2301641 -
ABCB5 Q2M3G0 VAR_028388 p.Lys224Arg Polymorphism rs13222448 -
ABCB5 Q2M3G0 VAR_028389 p.Ala470Thr Polymorphism rs17143304 -
ABCB5 Q2M3G0 VAR_028390 p.Glu525Lys Polymorphism rs6461515 -
ABCB5 Q2M3G0 VAR_033456 p.Gln460His Polymorphism rs35885925 -
ABCB5 Q2M3G0 VAR_035731 p.Glu230Val Unclassified - A colorectal cancer sample
ABCB5 Q2M3G0 VAR_062662 p.Ala435Thr Unclassified - A pancreatic ductal adenocarcinoma sample
ABCB6 Q9NP58 VAR_029749 p.Arg648Gln Polymorphism rs13402964 -
ABCB6 Q9NP58 VAR_035732 p.Arg69Gly Unclassified - A breast cancer sample
ABCB6 Q9NP58 VAR_047552 p.Leu293Val Polymorphism rs13018440 -
ABCB6 Q9NP58 VAR_060986 p.Arg343Gln Polymorphism rs60322991 -
ABCB7 O75027 VAR_009156 p.Ile400Met Disease - X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]
ABCB7 O75027 VAR_012640 p.Glu433Lys Disease - X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]
ABCB7 O75027 VAR_022872 p.Arg315Gly Polymorphism - -
ABCB7 O75027 VAR_022873 p.Phe346Ile Polymorphism - -
ABCB7 O75027 VAR_022874 p.Val411Leu Disease - X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]
ABCB7 O75027 VAR_037972 p.Val581Ala Polymorphism rs1340989 -
ABCB7 O75027 VAR_055471 p.Ala580Val Polymorphism rs1340989 -
ABCB8 Q9NUT2 VAR_013331 p.Val152Ile Polymorphism - -
ABCB8 Q9NUT2 VAR_035733 p.Ile165Thr Unclassified - A breast cancer sample
ABCB8 Q9NUT2 VAR_035734 p.Ala690Gly Unclassified - A breast cancer sample
ABCB9 Q9NP78 VAR_013701 p.Val121Met Polymorphism rs3803002 -
ABCC1 P33527 VAR_011488 p.Arg633Gln Polymorphism - -
ABCC1 P33527 VAR_011489 p.Gly671Val Polymorphism rs45511401 -
ABCC1 P33527 VAR_013317 p.Cys43Ser Polymorphism rs41395947 -
ABCC1 P33527 VAR_013318 p.Thr73Ile Polymorphism rs41494447 -
ABCC1 P33527 VAR_013319 p.Met117Thr Polymorphism - -
ABCC1 P33527 VAR_013320 p.Arg433Ser Polymorphism rs60782127 -
ABCC1 P33527 VAR_013321 p.Arg723Gln Polymorphism rs4148356 -
ABCC1 P33527 VAR_013322 p.Arg1058Gln Polymorphism rs41410450 -
ABCC1 P33527 VAR_013323 p.Ser1512Leu Polymorphism - -
ABCC1 P33527 VAR_055384 p.Ala861Thr Polymorphism rs45517537 -
ABCC1 P33527 VAR_055385 p.Cys1047Ser Polymorphism rs13337489 -
ABCC1 P33527 VAR_055386 p.Val1146Ile Polymorphism rs28706727 -
ABCC10 Q5T3U5 VAR_028391 p.Ile948Thr Polymorphism rs2125739 -
ABCC11 Q96J66 VAR_025437 p.Arg19His Polymorphism rs16945988 -
ABCC11 Q96J66 VAR_025438 p.Gly180Arg Polymorphism rs17822931 -
ABCC11 Q96J66 VAR_048144 p.Ala317Glu Polymorphism rs11863236 -
ABCC11 Q96J66 VAR_048145 p.Thr546Met Polymorphism rs17822471 -
ABCC11 Q96J66 VAR_048146 p.Val648Ile Polymorphism rs16945930 -
ABCC11 Q96J66 VAR_048147 p.Val687Ile Polymorphism rs16945928 -
ABCC11 Q96J66 VAR_048148 p.Lys735Arg Polymorphism rs16945926 -
ABCC11 Q96J66 VAR_048149 p.His1344Arg Polymorphism rs16945916 -
ABCC12 Q96J65 VAR_028392 p.Ile9Leu Polymorphism rs16945901 -
ABCC12 Q96J65 VAR_028393 p.Ala102Glu Polymorphism rs16945874 -
ABCC12 Q96J65 VAR_028394 p.Asn587Tyr Polymorphism rs16945816 -
ABCC12 Q96J65 VAR_028395 p.Lys894Met Polymorphism rs8057474 -
ABCC12 Q96J65 VAR_028396 p.Thr989Ser Polymorphism rs6500305 -
ABCC12 Q96J65 VAR_028397 p.Tyr1013His Polymorphism rs6500304 -
ABCC12 Q96J65 VAR_028398 p.Arg1117Cys Polymorphism rs7193955 -
ABCC12 Q96J65 VAR_028399 p.Glu1191Ala Polymorphism rs16945787 -
ABCC12 Q96J65 VAR_028400 p.Phe1349Leu Polymorphism rs12373105 -
ABCC12 Q96J65 VAR_048139 p.Glu690Val Polymorphism rs34135219 -
ABCC12 Q96J65 VAR_048140 p.Ile1187Thr Polymorphism rs34106426 -
ABCC13 Q9NSE7 VAR_020247 p.Ser228Asn Polymorphism rs2822558 -
ABCC2 Q92887 VAR_000099 p.Arg768Trp Disease rs56199535 Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2 Q92887 VAR_010756 p.Gln1382Arg Disease - Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2 Q92887 VAR_013324 p.Ser281Asn Polymorphism rs56131651 -
ABCC2 Q92887 VAR_013325 p.Val417Ile Polymorphism rs2273697 -
ABCC2 Q92887 VAR_013326 p.Ser789Phe Polymorphism rs56220353 -
ABCC2 Q92887 VAR_013327 p.Arg1150His Disease - Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2 Q92887 VAR_013328 p.Ile1173Phe Disease - Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2 Q92887 VAR_013330 p.Ala1450Thr Polymorphism rs56296335 -
ABCC2 Q92887 VAR_020226 p.Asp333Gly Polymorphism rs17222674 -
ABCC2 Q92887 VAR_020227 p.Arg353His Polymorphism rs7080681 -
ABCC2 Q92887 VAR_020228 p.Ile670Thr Polymorphism rs17222632 -
ABCC2 Q92887 VAR_020229 p.Leu849Arg Polymorphism rs17222617 -
ABCC2 Q92887 VAR_020230 p.Ile1036Thr Polymorphism rs45441199 -
ABCC2 Q92887 VAR_020231 p.Arg1181Leu Polymorphism rs8187692 -
ABCC2 Q92887 VAR_020232 p.Val1188Glu Polymorphism rs17222723 -
ABCC2 Q92887 VAR_020233 p.Pro1291Leu Polymorphism rs17216317 -
ABCC2 Q92887 VAR_020234 p.Cys1515Tyr Polymorphism rs8187710 -
ABCC2 Q92887 VAR_024360 p.Thr1273Ala Polymorphism rs8187699 -
ABCC2 Q92887 VAR_029113 p.Met246Leu Polymorphism rs17222744 -
ABCC2 Q92887 VAR_029115 p.Lys495Glu Polymorphism rs17222561 -
ABCC2 Q92887 VAR_029116 p.Phe562Leu Polymorphism rs17216233 -
ABCC2 Q92887 VAR_029117 p.Ile982Val Polymorphism rs17222554 -
ABCC2 Q92887 VAR_029118 p.Asn1063Ser Polymorphism rs17222540 -
ABCC2 Q92887 VAR_047152 p.Tyr39Phe Polymorphism rs927344 -
ABCC3 O15438 VAR_020235 p.Ser346Phe Polymorphism rs11568605 -
ABCC3 O15438 VAR_020237 p.Arg1297His Polymorphism rs11568591 -
ABCC3 O15438 VAR_020239 p.Gln1365Arg Polymorphism rs11568590 -
ABCC3 O15438 VAR_020240 p.Arg1381Ser Polymorphism rs45461799 -
ABCC3 O15438 VAR_029119 p.Gly11Asp Polymorphism rs11568609 -
ABCC3 O15438 VAR_029120 p.Arg1286Gly Polymorphism rs11568593 -
ABCC4 O15439 VAR_020241 p.Met184Thr Polymorphism rs45454092 -
ABCC4 O15439 VAR_020242 p.Gly187Trp Polymorphism rs11568658 -
ABCC4 O15439 VAR_020243 p.Lys498Glu Polymorphism rs11568669 -
ABCC4 O15439 VAR_020244 p.Met744Val Polymorphism rs9282570 -
ABCC4 O15439 VAR_020245 p.Val860Met Polymorphism rs45477596 -
ABCC4 O15439 VAR_020246 p.Val900Leu Polymorphism rs45504892 -
ABCC4 O15439 VAR_022072 p.Lys304Asn Polymorphism rs2274407 -
ABCC4 O15439 VAR_022073 p.Glu757Lys Polymorphism rs3765534 -
ABCC4 O15439 VAR_029121 p.Pro78Ala Polymorphism rs11568689 -
ABCC4 O15439 VAR_029122 p.Pro403Leu Polymorphism rs11568705 -
ABCC4 O15439 VAR_029123 p.Gly487Glu Polymorphism rs11568668 -
ABCC4 O15439 VAR_029124 p.Ile625Met Polymorphism rs11568699 -
ABCC4 O15439 VAR_029125 p.Pro667Leu Polymorphism rs11568697 -
ABCC4 O15439 VAR_029126 p.Thr1142Met Unclassified - -
ABCC4 O15439 VAR_045684 p.Tyr556Cys Unclassified - -
ABCC4 O15439 VAR_045685 p.Val776Ile Unclassified - -
ABCC4 O15439 VAR_045686 p.Arg820Ile Polymorphism rs11568659 -
ABCC4 O15439 VAR_045687 p.Val854Phe Unclassified - -
ABCC4 O15439 VAR_045688 p.Ile866Val Unclassified - -
ABCC4 O15439 VAR_046445 p.Leu18Ile Polymorphism rs11568681 -
ABCC4 O15439 VAR_046446 p.Cys171Gly Polymorphism rs4148460 -
ABCC4 O15439 VAR_046447 p.Lys293Glu Polymorphism rs11568684 -
ABCC4 O15439 VAR_046448 p.Thr356Met Polymorphism rs11568701 -
ABCC6 O95255 VAR_011490 p.Val614Ala Polymorphism rs12931472 -
ABCC6 O95255 VAR_011491 p.Arg1114Pro Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_011492 p.Arg1138Gln Disease rs60791294 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_011493 p.Arg1138Trp Disease rs28939701 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_011494 p.Arg1268Gln Polymorphism rs2238472 -
ABCC6 O95255 VAR_011495 p.Arg1314Trp Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013364 p.Gly61Asp Polymorphism - -
ABCC6 O95255 VAR_013365 p.Arg64Trp Polymorphism - -
ABCC6 O95255 VAR_013366 p.Gly207Arg Polymorphism - -
ABCC6 O95255 VAR_013367 p.Arg265Gly Polymorphism - -
ABCC6 O95255 VAR_013368 p.Lys281Glu Polymorphism rs4780606 -
ABCC6 O95255 VAR_013369 p.Ile319Val Polymorphism - -
ABCC6 O95255 VAR_013370 p.Thr364Arg Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013371 p.Asn411Lys Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013372 p.Ala455Pro Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013373 p.Asn497Lys Polymorphism - -
ABCC6 O95255 VAR_013374 p.Arg518Gln Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013375 p.Phe568Ser Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013376 p.His632Gln Polymorphism rs8058694 -
ABCC6 O95255 VAR_013377 p.Leu673Pro Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013378 p.Arg765Gln Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013379 p.Leu953His Polymorphism - -
ABCC6 O95255 VAR_013380 p.Ser1121Trp Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013381 p.Arg1138Pro Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013382 p.Gly1203Asp Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013383 p.Trp1241Cys Polymorphism - -
ABCC6 O95255 VAR_013384 p.Val1298Phe Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013385 p.Thr1301Ile Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013386 p.Gly1302Arg Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013387 p.Ala1303Pro Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013388 p.Arg1314Gln Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013389 p.Gly1321Ser Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013390 p.Arg1339Cys Disease rs28939702 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013391 p.Gln1347His Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013392 p.Gly1354Arg Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013393 p.Asp1361Asn Disease rs58695352 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013394 p.Ile1424Thr Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_055477 p.Val665Ala Polymorphism rs4341770 -
ABCC6 O95255 VAR_059108 p.Met848Val Polymorphism rs6416668 -
ABCC6 O95255 VAR_060988 p.Leu1097Ile Polymorphism rs60707953 -
ABCC8 Q09428 VAR_000100 p.Gly716Val Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008537 p.Arg1352Pro Disease rs28936370 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008539 p.Arg1420Cys Disease rs28938469 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008540 p.Arg1493Trp Disease rs28936371 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008639 p.Arg74Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008640 p.His125Gln Disease rs60637558 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008641 p.Val187Asp Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008642 p.Asn188Ser Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008643 p.Arg275Gln Polymorphism - -
ABCC8 Q09428 VAR_008644 p.Asn406Asp Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008645 p.Val560Met Polymorphism rs4148619 -
ABCC8 Q09428 VAR_008646 p.Phe591Leu Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008647 p.Asp810Asn Polymorphism - -
ABCC8 Q09428 VAR_008648 p.Arg834Cys Polymorphism - -
ABCC8 Q09428 VAR_008649 p.Thr1138Met Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008650 p.Arg1214Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008651 p.Val1360Gly Polymorphism - -
ABCC8 Q09428 VAR_008652 p.Ala1369Ser Polymorphism rs757110 -
ABCC8 Q09428 VAR_008653 p.Gly1378Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008654 p.Gly1381Ser Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008655 p.Arg1393His Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008656 p.Gly1478Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008658 p.Val1572Ile Polymorphism rs8192690 -
ABCC8 Q09428 VAR_015006 p.Asp673Asn Polymorphism - -
ABCC8 Q09428 VAR_015007 p.Val1360Met Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_015008 p.Arg1436Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_015009 p.Glu1506Lys Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_015010 p.Leu1543Pro Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_029777 p.Leu104Val Polymorphism rs10400391 -
ABCC8 Q09428 VAR_029778 p.Phe132Leu Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
ABCC8 Q09428 VAR_029779 p.Leu213Arg Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
ABCC8 Q09428 VAR_029780 p.Cys435Arg Disease - Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
ABCC8 Q09428 VAR_029781 p.Leu582Val Disease - Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
ABCC8 Q09428 VAR_029782 p.His1023Tyr Disease - Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
ABCC8 Q09428 VAR_029783 p.Arg1182Gln Disease - Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
ABCC8 Q09428 VAR_029784 p.Arg1352His Disease - Leucine-induced hypoglycemia (LIH) [MIM:240800]
ABCC8 Q09428 VAR_029785 p.Arg1379Cys Disease - Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
ABCC8 Q09428 VAR_029787 p.Ile1424Val Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
ABCC8 Q09428 VAR_031349 p.Gly7Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031350 p.Val21Asp Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031351 p.Phe27Ser Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031352 p.Gly70Glu Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031353 p.Arg74Trp Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031354 p.Val86Ala Disease - Diabetes mellitus permanent neonatal (PNDM) [MIM:606176]
ABCC8 Q09428 VAR_031355 p.Gly111Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031356 p.Ala116Pro Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031357 p.Met233Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031358 p.Asp310Asn Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031359 p.Cys418Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031360 p.Arg495Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031361 p.Glu501Lys Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031362 p.Leu503Pro Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031363 p.Leu508Pro Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031364 p.Pro551Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031365 p.Arg620Cys Disease rs58241708 Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031366 p.Phe686Ser Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031367 p.Lys719Thr Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031368 p.Arg841Gly Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031369 p.Lys889Thr Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031370 p.Ser956Phe Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031371 p.Thr1130Pro Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031372 p.Leu1147Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031373 p.Arg1214Trp Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031374 p.Asn1295Lys Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031375 p.Lys1336Asn Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031376 p.Gly1342Glu Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031377 p.Leu1349Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031378 p.Lys1384Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031379 p.Ser1386Phe Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031380 p.Gly1400Arg Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031381 p.Arg1418His Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031382 p.Leu1450Pro Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031383 p.Ala1457Thr Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031384 p.Asp1471His Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031385 p.Asp1471Asn Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031386 p.Arg1486Lys Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031387 p.Arg1493Gln Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031388 p.Val1550Asp Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031389 p.Leu1551Val Disease - Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC9 O60706 VAR_018483 p.Ala1513Thr Disease - Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]
ABCC9 O60706 VAR_048143 p.Pro1108Ser Polymorphism rs35404804 -
ABCC9 O60706 VAR_066210 p.Thr1547Ile Disease - Familial atrial fibrillation type 12 (ATFB12) [MIM:614050]
ABCD1 P33897 VAR_000024 p.Ser98Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000025 p.Arg104Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000026 p.Arg104His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000027 p.Thr105Ile Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000028 p.Leu107Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000029 p.Ser108Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000030 p.Gly116Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000033 p.Ala141Thr Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000034 p.Asn148Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000035 p.Ser149Asn Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000036 p.Arg152Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000037 p.Arg152Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000038 p.Arg163His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000039 p.Tyr174Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000040 p.Tyr174Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000041 p.Gln178Glu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000042 p.Tyr181Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000043 p.Arg182Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000044 p.Asp194His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000045 p.Asp200Val Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000046 p.Leu211Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000047 p.Leu220Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000048 p.Asp221Gly Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000049 p.Thr254Met Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000050 p.Thr254Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000051 p.Pro263Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000052 p.Gly266Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000053 p.Lys276Glu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000054 p.Gly277Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000056 p.Gly277Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000057 p.Glu291Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000058 p.Glu291Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000060 p.Ala294Thr Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000061 p.Ser342Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000062 p.Arg389Gly Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000063 p.Arg389His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000064 p.Arg401Gln Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000065 p.Arg418Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000066 p.Pro484Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000067 p.Gly507Val Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000068 p.Gly512Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000069 p.Ser515Phe Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000070 p.Arg518Gln Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000071 p.Arg518Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000072 p.Gly522Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000074 p.Pro534Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000075 p.Pro560Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000076 p.Pro560Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000077 p.Met566Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000078 p.Arg591Gln Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000079 p.Ser606Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000080 p.Ser606Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000081 p.Glu609Gly Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000082 p.Glu609Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000083 p.Arg617Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000084 p.Arg617Gly Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000085 p.Arg617His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000086 p.Ala626Thr Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000087 p.Asp629His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000089 p.Arg660Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_000090 p.Trp679Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009349 p.Glu90Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009350 p.Ser103Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009351 p.Thr105Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009352 p.Ser108Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009353 p.Arg113Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009354 p.Pro143Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009355 p.Arg152Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009356 p.Arg152Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009357 p.Ser161Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009358 p.Arg163Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009359 p.Tyr174Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009360 p.Arg189Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009361 p.Leu190Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009362 p.Thr198Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009363 p.Asp200Asn Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009364 p.Ser213Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009365 p.Asn214Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009366 p.Pro218Thr Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009367 p.Leu229Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009368 p.Glu271Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009369 p.Arg285Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009370 p.Tyr296Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009371 p.Gly298Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009372 p.Glu302Lys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009373 p.Leu322Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009374 p.Lys336Met Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009375 p.Arg401Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009376 p.Gly529Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009377 p.Phe540Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009378 p.Pro543Leu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009379 p.Gln544Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009380 p.Ser552Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009381 p.Arg554His Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009382 p.Arg591Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009383 p.Ala616Val Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009384 p.Glu630Gly Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009385 p.Cys631Tyr Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009386 p.Ser633Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009387 p.Ser636Ile Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009388 p.Asp638Tyr Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009389 p.Ala646Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009390 p.Leu654Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009391 p.His667Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009392 p.Thr668Ile Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_009393 p.Thr693Met Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013340 p.Asn13Thr Polymorphism - -
ABCD1 P33897 VAR_013341 p.Ala99Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013342 p.Arg113Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013344 p.Lys217Glu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013345 p.Val224Glu Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013346 p.Arg274Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013347 p.Arg280Cys Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013349 p.Trp339Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013350 p.Gly343Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013352 p.Gln556Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013353 p.Pro560Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013354 p.Arg591Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013355 p.Gly608Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013356 p.Ala626Asp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013357 p.Thr632Ile Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013358 p.Ser633Ile Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013359 p.Val635Met Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_013360 p.Arg660Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_023004 p.Cys88Trp Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_023005 p.Gly343Ser Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_023006 p.Leu503Pro Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_023007 p.Ser514Arg Disease - Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD2 Q9UBJ2 VAR_062664 p.Gln244Lys Unclassified - A pancreatic ductal adenocarcinoma sample
ABCD3 P28288 VAR_000091 p.Gly17Asp Unclassified - -
ABCD4 O14678 VAR_020222 p.Glu368Lys Polymorphism rs3742801 -
ABCD4 O14678 VAR_020778 p.Ala304Thr Polymorphism rs4148077 -
ABCD4 O14678 VAR_048134 p.Val172Ile Polymorphism rs34992370 -
ABCD4 O14678 VAR_048135 p.Thr350Arg Polymorphism rs35073715 -
ABCF1 Q8NE71 VAR_048136 p.Asn198Asp Polymorphism rs6902544 -
ABCF3 Q9NUQ8 VAR_027247 p.Pro503Leu Polymorphism rs11706273 -
ABCF3 Q9NUQ8 VAR_027248 p.Arg510His Polymorphism rs9811715 -
ABCG1 P45844 VAR_012279 p.Phe668Leu Polymorphism - -
ABCG2 Q9UNQ0 VAR_018349 p.Phe431Leu Polymorphism - -
ABCG2 Q9UNQ0 VAR_018350 p.Phe489Leu Polymorphism - -
ABCG2 Q9UNQ0 VAR_020779 p.Val12Met Polymorphism rs2231137 -
ABCG2 Q9UNQ0 VAR_020780 p.Gln141Lys Polymorphism rs2231142 -
ABCG2 Q9UNQ0 VAR_022443 p.Thr316Pro Polymorphism - -
ABCG2 Q9UNQ0 VAR_022704 p.Gln166Glu Polymorphism rs1061017 -
ABCG2 Q9UNQ0 VAR_022705 p.Ile206Leu Polymorphism - -
ABCG2 Q9UNQ0 VAR_022706 p.Phe208Ser Polymorphism rs1061018 -
ABCG2 Q9UNQ0 VAR_022707 p.Ser248Pro Polymorphism rs3116448 -
ABCG2 Q9UNQ0 VAR_022708 p.Phe571Ile Polymorphism rs9282571 -
ABCG2 Q9UNQ0 VAR_022709 p.Asp620Asn Polymorphism - -
ABCG2 Q9UNQ0 VAR_030357 p.Asp296His Polymorphism rs41282401 -
ABCG2 Q9UNQ0 VAR_030358 p.Ala528Thr Polymorphism rs45605536 -
ABCG2 Q9UNQ0 VAR_035355 p.Asn590Tyr Polymorphism - -
ABCG4 Q9H172 VAR_048141 p.Pro352Leu Polymorphism rs35060365 -
ABCG5 Q9H222 VAR_012244 p.Glu146Gln Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG5 Q9H222 VAR_012245 p.Arg389His Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG5 Q9H222 VAR_012246 p.Arg419His Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG5 Q9H222 VAR_012247 p.Arg419Pro Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG5 Q9H222 VAR_012248 p.Arg550Ser Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG5 Q9H222 VAR_012249 p.Gln604Glu Polymorphism rs6720173 -
ABCG5 Q9H222 VAR_020781 p.Asn437Lys Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG5 Q9H222 VAR_020782 p.Ile523Val Polymorphism - -
ABCG5 Q9H222 VAR_020783 p.Cys600Tyr Polymorphism - -
ABCG5 Q9H222 VAR_020784 p.Met622Val Polymorphism - -
ABCG5 Q9H222 VAR_033457 p.Thr517Ser Polymorphism rs17031672 -
ABCG5 Q9H222 VAR_048142 p.Arg50Cys Polymorphism rs6756629 -
ABCG8 Q9H221 VAR_012250 p.Asp19His Polymorphism rs11887534 -
ABCG8 Q9H221 VAR_012251 p.Tyr54Cys Polymorphism rs4148211 -
ABCG8 Q9H221 VAR_012252 p.Arg184His Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG8 Q9H221 VAR_012253 p.Pro231Thr Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG8 Q9H221 VAR_012254 p.Glu238Lys Polymorphism rs34754243 -
ABCG8 Q9H221 VAR_012255 p.Ala259Val Polymorphism rs35518570 -
ABCG8 Q9H221 VAR_012256 p.Arg263Gln Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG8 Q9H221 VAR_012257 p.Thr400Lys Polymorphism rs4148217 -
ABCG8 Q9H221 VAR_012258 p.Arg405His Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG8 Q9H221 VAR_012259 p.Leu501Pro Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG8 Q9H221 VAR_012260 p.Arg543Ser Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG8 Q9H221 VAR_012262 p.Leu572Pro Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG8 Q9H221 VAR_012263 p.Gly574Glu Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG8 Q9H221 VAR_012264 p.Gly574Arg Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG8 Q9H221 VAR_012265 p.Gly575Arg Polymorphism rs36209700 -
ABCG8 Q9H221 VAR_012266 p.Leu596Arg Disease - Sitosterolemia (STSL) [MIM:210250]
ABCG8 Q9H221 VAR_012267 p.Val632Ala Polymorphism rs6544718 -
ABCG8 Q9H221 VAR_020785 p.Tyr641Phe Polymorphism - -
ABCG8 Q9H221 VAR_022074 p.Val210Met Polymorphism rs9282574 -
ABCG8 Q9H221 VAR_022075 p.Met655Val Polymorphism rs9282573 -
ABHD1 Q96SE0 VAR_031087 p.Asp137Glu Polymorphism rs6715286 -
ABHD1 Q96SE0 VAR_031088 p.Trp371Cys Polymorphism rs2304678 -
ABHD1 Q96SE0 VAR_052484 p.Pro54Gln Polymorphism rs34127901 -
ABHD10 Q9NUJ1 VAR_031194 p.Ile251Val Polymorphism rs17429033 -
ABHD12 Q8N2K0 VAR_050630 p.Ala349Thr Polymorphism rs746748 -
ABHD12B Q7Z5M8 VAR_019100 p.Phe334Leu Polymorphism rs7154732 -
ABHD12B Q7Z5M8 VAR_035676 p.Ile282Val Unclassified - A breast cancer sample
ABHD14A Q9BUJ0 VAR_031390 p.Arg32Gln Polymorphism rs17849626 -
ABHD14A Q9BUJ0 VAR_031391 p.Cys61Trp Polymorphism rs404527 -
ABHD15 Q6UXT9 VAR_045821 p.Thr334Ala Polymorphism rs542939 -
ABHD16B Q9H3Z7 VAR_050920 p.Leu10Gln Polymorphism rs2281534 -
ABHD2 P08910 VAR_031203 p.Arg253Gln Polymorphism rs17851730 -
ABHD3 Q8WU67 VAR_031089 p.Arg3Cys Polymorphism rs17851878 -
ABHD5 Q8WTS1 VAR_023387 p.Glu7Lys Disease - Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5 Q8WTS1 VAR_023388 p.Gln130Pro Disease rs28939077 Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5 Q8WTS1 VAR_023389 p.Glu260Lys Disease rs28939078 Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5 Q8WTS1 VAR_037574 p.Ile72Thr Polymorphism rs2302349 -
ABHD5 Q8WTS1 VAR_057953 p.His82Arg Unclassified - -
ABHD5 Q8WTS1 VAR_057954 p.Ser115Gly Disease - Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABI1 Q8IZP0 VAR_048159 p.Gly331Ala Polymorphism rs2306236 -
ABI3 Q9P2A4 VAR_022030 p.Arg44Gln Polymorphism rs2233369 -
ABI3 Q9P2A4 VAR_060243 p.Ser203Phe Polymorphism rs616338 -
ABI3 Q9P2A4 VAR_060993 p.Phe209Ser Polymorphism rs616338 -
ABL1 P00519 VAR_025043 p.Gly706Val Polymorphism rs34634745 -
ABL1 P00519 VAR_025044 p.Thr852Pro Polymorphism - -
ABL1 P00519 VAR_025045 p.Pro900Ser Polymorphism rs35266696 -
ABL1 P00519 VAR_025046 p.Ser972Leu Polymorphism rs2229067 -
ABL1 P00519 VAR_032676 p.Arg47Gly Unclassified - A lung large cell carcinoma sample
ABL1 P00519 VAR_032677 p.Arg166Lys Unclassified - A melanoma sample
ABL1 P00519 VAR_032678 p.Pro810Leu Polymorphism rs2229071 -
ABL1 P00519 VAR_051692 p.Leu140Pro Polymorphism rs1064152 -
ABL1 P00519 VAR_051693 p.Lys247Arg Polymorphism rs34549764 -
ABL1 P00519 VAR_051694 p.Ser968Pro Polymorphism rs1064165 -
ABL2 P42684 VAR_029232 p.Lys930Arg Polymorphism rs17277288 -
ABL2 P42684 VAR_029233 p.Val946Met Polymorphism rs28913889 -
ABL2 P42684 VAR_029234 p.Pro996Arg Polymorphism rs28913890 -
ABL2 P42684 VAR_029235 p.Ser1085Asn Polymorphism rs28913891 -
ABL2 P42684 VAR_029236 p.Thr1101Ala Polymorphism rs28913892 -
ABL2 P42684 VAR_055411 p.Arg78His Polymorphism rs55655202 -
ABL2 P42684 VAR_055412 p.Glu99Gln Unclassified - -
ABL2 P42684 VAR_055413 p.Arg519Ile Unclassified - -
ABL2 P42684 VAR_055414 p.Thr769Ser Polymorphism rs55892721 -
ABLIM1 O14639 VAR_050141 p.Pro434Thr Polymorphism rs11593544 -
ABLIM1 O14639 VAR_050142 p.Arg637Gly Polymorphism rs7091419 -
ABLIM2 Q6H8Q1 VAR_062665 p.Gly227Arg Unclassified - A pancreatic ductal adenocarcinoma sample
ABLIM2 Q6H8Q1 VAR_062666 p.Lys274Met Unclassified - A pancreatic ductal adenocarcinoma sample
ABLIM3 O94929 VAR_050143 p.Gly125Asp Polymorphism rs35907283 -
ABO P16442 VAR_003409 p.Pro156Leu Polymorphism rs1053878 -
ABO P16442 VAR_003410 p.Arg176Gly Polymorphism rs7853989 -
ABO P16442 VAR_003411 p.Gly235Ser Polymorphism rs8176743 -
ABO P16442 VAR_003412 p.Leu266Met Polymorphism rs8176746 -
ABO P16442 VAR_003413 p.Gly268Ala Polymorphism rs8176747 -
ABO P16442 VAR_003414 p.Arg352Trp Polymorphism - -
ABO P16442 VAR_019147 p.Gly35Arg Polymorphism rs8176696 -
ABO P16442 VAR_019148 p.Val36Phe Polymorphism rs688976 -
ABO P16442 VAR_019149 p.Arg63His Polymorphism rs549446 -
ABO P16442 VAR_019150 p.Pro74Ser Polymorphism rs512770 -
ABO P16442 VAR_019151 p.Arg161His Polymorphism rs8176738 -
ABO P16442 VAR_019152 p.Arg199Cys Polymorphism rs8176739 -
ABO P16442 VAR_019153 p.Phe216Ile Polymorphism rs8176740 -
ABO P16442 VAR_019154 p.Val277Met Polymorphism rs8176748 -
ABO P16442 VAR_033540 p.Pro257Leu Polymorphism rs8176745 -
ABO P16442 VAR_033541 p.Gly268Arg Polymorphism rs8176747 -
ABO P16442 VAR_036738 p.Thr163Met Polymorphism rs55756402 -
ABO P16442 VAR_036739 p.Arg198Trp Polymorphism rs56223957 -
ABO P16442 VAR_036740 p.Met214Arg Polymorphism rs55827808 -
ABO P16442 VAR_036741 p.Glu223Asp Polymorphism - -
ABO P16442 VAR_036742 p.Met288Arg Polymorphism - -
ABO P16442 VAR_036743 p.Asp291Asn Polymorphism - -
ABO P16442 VAR_036744 p.Lys346Met Polymorphism - -
ABO P16442 VAR_036745 p.Arg352Gly Polymorphism - -
ABO P16442 VAR_055227 p.Gly230Arg Unclassified - -
ABP1 P19801 VAR_007542 p.His645Asp Polymorphism rs1049793 -
ABP1 P19801 VAR_025078 p.Thr16Met Polymorphism rs10156191 -
ABP1 P19801 VAR_025079 p.Ser332Phe Polymorphism rs1049742 -
ABP1 P19801 VAR_025080 p.Met479Ile Polymorphism rs45558339 -
ABP1 P19801 VAR_025081 p.Asn659His Polymorphism rs35070995 -
ABR Q12979 VAR_057186 p.Lys517Arg Polymorphism rs34169260 -
ABTB2 Q8N961 VAR_022087 p.His64Gln Polymorphism rs1925368 -
ABTB2 Q8N961 VAR_024171 p.Thr732Ala Polymorphism rs2473928 -
ACAA1 P09110 VAR_011904 p.Glu172Asp Polymorphism rs156265 -
ACAA2 P42765 VAR_052577 p.Met217Val Polymorphism rs11549285 -
ACACA Q13085 VAR_028929 p.Ala2271Val Polymorphism - -
ACACA Q13085 VAR_036514 p.Arg1687Gln Unclassified - A colorectal cancer sample
ACACA Q13085 VAR_042941 p.Arg838Trp Polymorphism rs2287351 -
ACACB O00763 VAR_031255 p.Ile552Val Polymorphism rs16940029 -
ACACB O00763 VAR_031256 p.Ala651Thr Polymorphism rs2300455 -
ACACB O00763 VAR_031257 p.Val2141Ile Polymorphism rs2075260 -
ACACB O00763 VAR_062667 p.Arg193Leu Unclassified - A pancreatic ductal adenocarcinoma sample
ACAD10 Q6JQN1 VAR_031811 p.Gln200Arg Polymorphism rs35276160 -
ACAD10 Q6JQN1 VAR_031812 p.Thr216Pro Polymorphism rs35753710 -
ACAD10 Q6JQN1 VAR_031813 p.Asp463Asn Polymorphism rs36046440 -
ACAD10 Q6JQN1 VAR_031814 p.Ala880Val Polymorphism rs34245489 -
ACAD11 Q709F0 VAR_028825 p.Arg157His Polymorphism rs821572 -
ACAD11 Q709F0 VAR_028826 p.Val362Leu Polymorphism rs6776576 -
ACAD8 Q9UKU7 VAR_035071 p.Met128Ile Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 Q9UKU7 VAR_035072 p.Asp134Tyr Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 Q9UKU7 VAR_035073 p.Gly137Arg Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 Q9UKU7 VAR_035074 p.Met152Thr Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 Q9UKU7 VAR_035075 p.Val203Ile Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 Q9UKU7 VAR_035076 p.Arg302Gln Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 Q9UKU7 VAR_035077 p.Ala320Thr Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 Q9UKU7 VAR_035078 p.Arg334Cys Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 Q9UKU7 VAR_035079 p.Gln385Arg Disease - Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD9 Q9H845 VAR_033459 p.Arg477Gln Polymorphism rs4494951 -
ACADL P28330 VAR_000328 p.Ser303Thr Polymorphism rs1801204 -
ACADL P28330 VAR_000329 p.Lys333Gln Polymorphism rs2286963 -
ACADM P11310 VAR_000317 p.Arg53Cys Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_000319 p.Met149Ile Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_000320 p.Thr193Ala Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_000321 p.Gly195Arg Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_000322 p.Cys244Arg Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_000323 p.Gly267Arg Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_000324 p.Met326Thr Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_000325 p.Lys329Glu Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_000326 p.Ser336Arg Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_000327 p.Ile375Thr Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_013698 p.Tyr67His Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_013699 p.Ser245Leu Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_013700 p.Arg281Thr Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_015954 p.Ile78Thr Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_015955 p.Cys116Tyr Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_015956 p.Thr121Ile Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_015957 p.Arg206Leu Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_015958 p.Gly310Arg Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_015959 p.Tyr352Cys Disease - Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM P11310 VAR_035716 p.Pro132Arg Unclassified - A breast cancer sample
ACADS P16219 VAR_000310 p.Arg46Trp Disease - Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS P16219 VAR_000311 p.Gly92Cys Disease - Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS P16219 VAR_000312 p.Arg107Cys Disease - Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS P16219 VAR_000314 p.Trp177Arg Disease rs57443665 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS P16219 VAR_000315 p.Gly209Ser Polymorphism rs1799958 -
ACADS P16219 VAR_000316 p.Arg383Cys Disease rs28940872 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS P16219 VAR_013565 p.Gly90Ser Disease - Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS P16219 VAR_013567 p.Arg171Trp Polymorphism rs1800556 -
ACADS P16219 VAR_013568 p.Ala192Val Disease rs28940874 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS P16219 VAR_013569 p.Arg325Trp Disease - Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS P16219 VAR_013570 p.Ser353Leu Disease rs28941773 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS P16219 VAR_013571 p.Arg380Trp Disease rs28940875 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS P16219 VAR_033458 p.Arg383His Polymorphism rs35233375 -
ACADSB P45954 VAR_013010 p.Leu255Phe Disease - Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]
ACADSB P45954 VAR_014749 p.Ser209Gly Polymorphism rs1799823 -
ACADSB P45954 VAR_048177 p.Arg13Lys Polymorphism rs12263012 -
ACADSB P45954 VAR_048178 p.Ile316Val Polymorphism rs1131430 -
ACADSB P45954 VAR_048179 p.Glu376Gly Polymorphism rs12357783 -
ACADVL P49748 VAR_000330 p.Gly43Asp Disease rs2230178 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000332 p.Thr158Asn Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000333 p.Gln159Arg Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000334 p.Val174Met Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000335 p.Gly185Ser Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000336 p.Glu218Lys Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000337 p.Leu243Arg Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000338 p.Lys247Thr Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000339 p.Thr260Met Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000341 p.Ala281Asp Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000342 p.Val283Ala Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000343 p.Gly290Asp Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000344 p.Gly294Glu Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000345 p.Lys299Asn Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000347 p.Val317Ala Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000348 p.Met352Val Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000349 p.Arg366Cys Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000350 p.Arg366His Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000352 p.Lys382Gln Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000353 p.Asp405His Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000354 p.Gly441Asp Disease rs2309689 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000355 p.Arg450His Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000356 p.Arg453Gln Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000357 p.Asp454Asn Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000358 p.Arg456His Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000359 p.Arg459Trp Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000360 p.Gly463Glu Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000361 p.Arg469Gln Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000362 p.Arg469Trp Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000363 p.Leu502Pro Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000364 p.Leu602Ile Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000365 p.Arg613Trp Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_010101 p.Ala213Pro Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_010102 p.Lys247Glu Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_010103 p.Phe458Leu Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_010104 p.Ala490Pro Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_010105 p.Glu534Lys Disease rs2230180 Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_010106 p.Arg615Gln Disease - Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_011990 p.Ala359Ser Polymorphism rs1051701 -
ACADVL P49748 VAR_011991 p.Ser623Phe Polymorphism rs13383 -
ACADVL P49748 VAR_029286 p.Leu17Phe Polymorphism rs2230179 -
ACADVL P49748 VAR_048176 p.Pro65Leu Polymorphism rs28934585 -
ACAN P16112 VAR_056152 p.Asp102Glu Polymorphism rs16942318 -
ACAN P16112 VAR_056153 p.Arg275Gln Polymorphism rs34949187 -
ACAN P16112 VAR_056154 p.Pro1943Leu Polymorphism rs35061438 -
ACAN P16112 VAR_056155 p.Ser2005Arg Polymorphism rs34153007 -
ACAN P16112 VAR_063053 p.Asp2266Asn Disease - Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]
ACAN P16112 VAR_063765 p.Val2303Met Disease - Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]
ACAP1 Q15027 VAR_036178 p.Lys114Arg Unclassified - A breast cancer sample
ACAP1 Q15027 VAR_036179 p.Arg129Gln Unclassified - A colorectal cancer sample
ACAP1 Q15027 VAR_048328 p.Arg68Cys Polymorphism rs35933585 -
ACAP1 Q15027 VAR_048329 p.Arg533Trp Polymorphism rs35019942 -
ACAT1 P24752 VAR_007496 p.Ala5Pro Polymorphism rs3741056 -
ACAT1 P24752 VAR_007498 p.Asn93Ser Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 P24752 VAR_007499 p.Gly152Ala Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 P24752 VAR_007500 p.Asn158Asp Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 P24752 VAR_007501 p.Gly183Arg Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 P24752 VAR_007502 p.Thr297Met Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 P24752 VAR_007503 p.Ala301Pro Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 P24752 VAR_007504 p.Ile312Thr Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 P24752 VAR_007505 p.Ala333Pro Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 P24752 VAR_007506 p.Gly379Val Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 P24752 VAR_007507 p.Ala380Thr Disease - 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT2 Q9BWD1 VAR_019686 p.Lys211Arg Polymorphism rs25683 -
ACBD3 Q9H3P7 VAR_019615 p.Glu187Asp Polymorphism rs2306120 -
ACBD4 Q8NC06 VAR_055478 p.Pro118Leu Polymorphism rs901754 -
ACBD4 Q8NC06 VAR_059109 p.Arg242Gly Polymorphism rs16939879 -
ACBD5 Q5T8D3 VAR_032301 p.Thr472Met Polymorphism rs7918793 -
ACCN1 Q16515 VAR_052036 p.Asp354Gly Polymorphism rs16967895 -
ACCN3 Q9UHC3 VAR_052037 p.Asn228Ser Polymorphism rs1864545 -
ACCN4 Q96FT7 VAR_052038 p.Pro614Gln Polymorphism rs6436153 -
ACCN4 Q96FT7 VAR_052039 p.Arg616Leu Polymorphism rs11689281 -
ACCN4 Q96FT7 VAR_059806 p.Val619Ala Polymorphism rs11695248 -
ACCS Q96QU6 VAR_038685 p.Gly221Glu Unclassified rs35514614 A breast cancer sample
ACCS Q96QU6 VAR_038686 p.Ser393Leu Unclassified - A breast cancer sample
ACCS Q96QU6 VAR_038687 p.Pro421Leu Polymorphism rs3107275 -
ACCS Q96QU6 VAR_048227 p.Asp59Asn Polymorphism rs33952257 -
ACCS Q96QU6 VAR_048228 p.Asp134Glu Polymorphism rs2018795 -
ACCSL Q4AC99 VAR_060626 p.Cys529Arg Polymorphism rs2074051 -
ACD Q96AP0 VAR_060224 p.Thr301Met Polymorphism rs72547495 -
ACD Q96AP0 VAR_060225 p.Val518Ala Polymorphism rs6979 -
ACE P12821 VAR_011707 p.Ala261Ser Polymorphism rs4303 -
ACE P12821 VAR_011708 p.Arg561Trp Polymorphism rs4314 -
ACE P12821 VAR_011709 p.Arg1286Ser Polymorphism rs4364 -
ACE P12821 VAR_014189 p.Ile1018Thr Polymorphism rs4976 -
ACE P12821 VAR_014190 p.Phe1051Val Polymorphism rs4977 -
ACE P12821 VAR_014191 p.Arg1279Gln Polymorphism rs4980 -
ACE P12821 VAR_014192 p.Gln1296Pro Polymorphism rs4981 -
ACE P12821 VAR_020053 p.Asp592Gly Polymorphism rs12709426 -
ACE P12821 VAR_023430 p.Tyr244Cys Polymorphism rs3730025 -
ACE P12821 VAR_023431 p.Pro351Leu Polymorphism rs2229839 -
ACE P12821 VAR_023432 p.Thr916Met Polymorphism rs3730043 -
ACE P12821 VAR_023433 p.Thr1187Met Polymorphism rs12709442 -
ACE P12821 VAR_023434 p.Pro1228Leu Unclassified - -
ACE P12821 VAR_029139 p.Ala154Thr Polymorphism rs13306087 -
ACE P12821 VAR_029140 p.Ala183Thr Polymorphism rs12720754 -
ACE P12821 VAR_029141 p.Arg379Gln Polymorphism rs13306085 -
ACE P12821 VAR_029142 p.Val524Ala Polymorphism rs12720746 -
ACE P12821 VAR_034602 p.Met828Thr Polymorphism rs13306091 -
ACE P12821 VAR_035434 p.Gly354Arg Polymorphism rs56394458 -
ACE P12821 VAR_054000 p.Arg260Cys Polymorphism rs4302 -
ACE P12821 VAR_054001 p.Arg260Leu Polymorphism rs4303 -
ACE2 Q9BYF1 VAR_023082 p.Lys26Arg Polymorphism rs4646116 -
ACE2 Q9BYF1 VAR_023083 p.Asn638Ser Polymorphism - -
ACER2 Q5QJU3 VAR_027150 p.Ala134Val Polymorphism rs10964136 -
ACHE P22303 VAR_002359 p.His353Asn Polymorphism rs1799805 -
ACHE P22303 VAR_011934 p.Val333Glu Polymorphism rs8286 -
ACHE P22303 VAR_021325 p.Arg34Gln Polymorphism rs17881553 -
ACHE P22303 VAR_021326 p.Pro135Ala Polymorphism rs17885778 -
ACIN1 Q9UKV3 VAR_022031 p.Ile311Met Polymorphism rs3811182 -
ACIN1 Q9UKV3 VAR_022032 p.Ser467Pro Polymorphism rs1885097 -
ACIN1 Q9UKV3 VAR_022033 p.Ser478Phe Polymorphism rs3751501 -
ACIN1 Q9UKV3 VAR_035777 p.Arg1160Gln Unclassified - A colorectal cancer sample
ACIN1 Q9UKV3 VAR_050632 p.Arg257Lys Polymorphism rs11555803 -
ACIN1 Q9UKV3 VAR_061547 p.Ala447Pro Polymorphism rs941719 -
ACLY P53396 VAR_028230 p.Glu175Asp Polymorphism rs2304497 -
ACO1 P21399 VAR_048180 p.Ala395Asp Polymorphism rs3814519 -
ACO1 P21399 VAR_048181 p.Gly486Arg Polymorphism rs34630459 -
ACO2 Q99798 VAR_033297 p.Ala768Ser Polymorphism rs1804785 -
ACO2 Q99798 VAR_036572 p.Thr697Asn Unclassified - A breast cancer sample
ACOT1 Q86TX2 VAR_059830 p.Arg266His Polymorphism rs1049568 -
ACOT11 Q8WXI4 VAR_022119 p.Pro165Leu Polymorphism rs2304306 -
ACOT11 Q8WXI4 VAR_022120 p.Gly202Asp Polymorphism rs1702003 -
ACOT11 Q8WXI4 VAR_022121 p.Met212Ile Polymorphism rs2304305 -
ACOT11 Q8WXI4 VAR_048190 p.Arg11Trp Polymorphism rs34630746 -
ACOT11 Q8WXI4 VAR_048191 p.Arg536His Polymorphism rs12403630 -
ACOT12 Q8WYK0 VAR_048192 p.Val230Ile Polymorphism rs34607174 -
ACOT12 Q8WYK0 VAR_048193 p.Ala403Thr Polymorphism rs10371 -
ACOT12 Q8WYK0 VAR_064691 p.Leu190His Unclassified - -
ACOT2 P49753 VAR_016136 p.His475Arg Polymorphism rs7494 -
ACOT2 P49753 VAR_057271 p.Arg16Ser Polymorphism rs11545741 -
ACOT4 Q8N9L9 VAR_052300 p.Arg57Cys Polymorphism rs3742819 -
ACOT4 Q8N9L9 VAR_052301 p.Ala187Asp Polymorphism rs35724886 -
ACOT6 Q3I5F7 VAR_052302 p.Glu166Lys Polymorphism rs17782052 -
ACOT9 Q9Y305 VAR_062668 p.Asn305His Unclassified - A pancreatic ductal adenocarcinoma sample
ACOX1 Q15067 VAR_021529 p.Ile312Met Polymorphism rs1135640 -
ACOX1 Q15067 VAR_025789 p.Gly178Cys Disease - Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1 Q15067 VAR_025790 p.Met278Val Disease - Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1 Q15067 VAR_030619 p.Thr153Ile Polymorphism rs17855420 -
ACOX1 Q15067 VAR_048182 p.Gly101Ser Polymorphism rs3744032 -
ACOX3 O15254 VAR_030802 p.Glu34Ala Polymorphism rs12513296 -
ACOX3 O15254 VAR_030803 p.Asp497Asn Polymorphism rs13434465 -
ACOXL Q9NUZ1 VAR_035164 p.Thr255Met Polymorphism rs1554005 -
ACOXL Q9NUZ1 VAR_035165 p.Pro535Leu Polymorphism rs17041850 -
ACP1 P24666 VAR_006171 p.Gln106Arg Polymorphism rs7576247 -
ACP1 P24666 VAR_050526 p.Lys7Asn Polymorphism rs11691572 -
ACP1 P24666 VAR_050527 p.Ser137Phe Polymorphism rs35569198 -
ACP2 P11117 VAR_027801 p.Arg29Gln Polymorphism rs2167079 -
ACP2 P11117 VAR_034394 p.Ser320Phe Polymorphism rs34425282 -
ACP2 P11117 VAR_050519 p.Val402Ile Polymorphism rs4647764 -
ACP5 P13686 VAR_020602 p.Val148Met Polymorphism rs2305799 -
ACP5 P13686 VAR_020603 p.Val200Met Polymorphism rs2229531 -
ACP5 P13686 VAR_029288 p.Val221Ile Polymorphism rs2229532 -
ACP5 P13686 VAR_065920 p.Lys52Met Disease - Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5 P13686 VAR_065921 p.Thr89Ile Disease - Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5 P13686 VAR_065922 p.Gly109Arg Disease - Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5 P13686 VAR_065923 p.Leu201Pro Disease - Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5 P13686 VAR_065924 p.Gly215Arg Disease - Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5 P13686 VAR_065925 p.Asp241Asn Disease - Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5 P13686 VAR_065926 p.Asn262His Disease - Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5 P13686 VAR_065927 p.Met264Lys Disease - Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP6 Q9NPH0 VAR_022678 p.Val316Met Polymorphism rs6593795 -
ACPP P15309 VAR_047960 p.Ser15Asn Polymorphism rs17850347 -
ACPP P15309 VAR_047961 p.Phe124Val Polymorphism rs17856254 -
ACPP P15309 VAR_047962 p.Trp226Arg Polymorphism rs17856253 -
ACPP P15309 VAR_047963 p.Tyr330His Polymorphism rs17851392 -
ACPP P15309 VAR_047964 p.Val360Ala Polymorphism rs17850198 -
ACR P10323 VAR_011650 p.Leu120Val Polymorphism rs1064734 -
ACR P10323 VAR_011651 p.Phe166Leu Polymorphism rs1064735 -
ACRBP Q8NEB7 VAR_050633 p.Thr336Ala Polymorphism rs3741923 -
ACRC Q96QF7 VAR_038520 p.Thr662Ile Polymorphism rs2280962 -
ACRC Q96QF7 VAR_050634 p.Arg471His Polymorphism rs10217999 -
ACRV1 P26436 VAR_050680 p.Gly126Arg Polymorphism rs34788353 -
ACSBG1 Q96GR2 VAR_038314 p.Glu194Val Polymorphism rs12899901 -
ACSBG1 Q96GR2 VAR_038315 p.Met633Val Polymorphism rs2304824 -
ACSBG1 Q96GR2 VAR_038316 p.Ala673Val Polymorphism rs11072735 -
ACSBG2 Q5FVE4 VAR_038317 p.Val143Ala Polymorphism rs4807840 -
ACSBG2 Q5FVE4 VAR_038318 p.Lys152Arg Polymorphism rs33937754 -
ACSBG2 Q5FVE4 VAR_038319 p.Gly584Asp Polymorphism rs17851959 -
ACSBG2 Q5FVE4 VAR_038320 p.Gly586Asp Polymorphism rs17851960 -
ACSBG2 Q5FVE4 VAR_038321 p.Pro601Arg Polymorphism rs35609668 -
ACSBG2 Q5FVE4 VAR_038322 p.Arg624Lys Polymorphism rs17856650 -
ACSBG2 Q5FVE4 VAR_038323 p.Glu626Gln Polymorphism rs17856651 -
ACSBG2 Q5FVE4 VAR_038324 p.Arg650Ser Polymorphism rs35605352 -
ACSF2 Q96CM8 VAR_038304 p.Gly75Val Polymorphism rs17856448 -
ACSF2 Q96CM8 VAR_038305 p.Val316Met Polymorphism rs3744523 -
ACSF3 Q4G176 VAR_038306 p.Leu2Pro Polymorphism rs7188200 -
ACSF3 Q4G176 VAR_038307 p.Ala17Pro Polymorphism rs11547019 -
ACSF3 Q4G176 VAR_038308 p.Val372Met Polymorphism rs3743979 -
ACSF3 Q4G176 VAR_066504 p.Met198Arg Disease - Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3 Q4G176 VAR_066505 p.Pro243Leu Disease rs140986055 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3 Q4G176 VAR_066506 p.Thr358Ile Disease - Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3 Q4G176 VAR_066507 p.Glu359Lys Disease rs150487794 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3 Q4G176 VAR_066508 p.Lys462Thr Disease - Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3 Q4G176 VAR_066510 p.Arg471Gln Disease - Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3 Q4G176 VAR_066511 p.Arg471Trp Disease rs138680796 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3 Q4G176 VAR_066512 p.Gly480Ser Disease - Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3 Q4G176 VAR_066513 p.Arg558Trp Disease rs141090143 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSL3 O95573 VAR_026716 p.Phe551Ser Polymorphism rs1046032 -
ACSL4 O60488 VAR_013180 p.Arg570Ser Disease - Mental retardation X-linked type 63 (MRX63) [MIM:300387]
ACSL4 O60488 VAR_036376 p.Arg133Cys Unclassified - A colorectal cancer sample
ACSL5 Q9ULC5 VAR_022117 p.Met182Val Polymorphism rs3736946 -
ACSL5 Q9ULC5 VAR_036377 p.Lys388Arg Unclassified - A colorectal cancer sample
ACSL5 Q9ULC5 VAR_036378 p.Gly466Asp Unclassified - A colorectal cancer sample
ACSL5 Q9ULC5 VAR_048240 p.Thr486Ala Polymorphism rs12254915 -
ACSM1 Q08AH1 VAR_035245 p.Ile479Val Polymorphism rs8056709 -
ACSM1 Q08AH1 VAR_035246 p.Ile515Thr Polymorphism rs16970453 -
ACSM1 Q08AH1 VAR_048238 p.Ile272Met Polymorphism rs16970511 -
ACSM2A Q08AH3 VAR_035247 p.Ser513Leu Polymorphism rs1133607 -
ACSM2A Q08AH3 VAR_035248 p.Ala561Thr Polymorphism rs1054977 -
ACSM2A Q08AH3 VAR_058692 p.Val335Leu Polymorphism rs4643305 -
ACSM2A Q08AH3 VAR_058693 p.Thr336Ala Polymorphism rs5002299 -
ACSM2A Q08AH3 VAR_058694 p.Val337Gly Polymorphism rs4586421 -
ACSM3 Q53FZ2 VAR_035249 p.Leu100Pro Polymorphism rs5713 -
ACSM3 Q53FZ2 VAR_035250 p.Pro308Thr Polymorphism rs7196188 -
ACSM3 Q53FZ2 VAR_035251 p.Lys367Asn Polymorphism rs5716 -
ACSM3 Q53FZ2 VAR_048239 p.Asp270His Polymorphism rs13306603 -
ACSM4 P0C7M7 VAR_061010 p.Arg481His Polymorphism rs61584783 -
ACSM5 Q6NUN0 VAR_035252 p.Gln159His Polymorphism - -
ACSM5 Q6NUN0 VAR_035253 p.Pro352Arg Polymorphism rs8062344 -
ACSM5 Q6NUN0 VAR_035254 p.His360Arg Polymorphism rs12931877 -
ACSM5 Q6NUN0 VAR_035255 p.Thr533Met Polymorphism rs56308819 -
ACSM5 Q6NUN0 VAR_055495 p.Arg65Gln Polymorphism rs9928053 -
ACSM5 Q6NUN0 VAR_055496 p.Glu182Lys Polymorphism rs7192210 -
ACSM5 Q6NUN0 VAR_061011 p.Met217Val Polymorphism rs59025904 -
ACSM6 Q6P461 VAR_043606 p.Lys227Arg Polymorphism rs7090248 -
ACSM6 Q6P461 VAR_063090 p.Glu19Gly Polymorphism rs591157 -
ACSM6 Q6P461 VAR_063091 p.Cys40Ser Polymorphism rs11188225 -
ACSS1 Q9NUB1 VAR_048184 p.Val488Met Polymorphism rs6050249 -
ACTA1 P68133 VAR_011680 p.Gly17Arg Disease - Myopathy congenital with excess of thin myofilaments (MPCETM) [MIM:161800]
ACTA1 P68133 VAR_011681 p.Leu96Pro Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_011682 p.Asn117Ser Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_011683 p.Ile138Met Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_011684 p.Val165Leu Disease - Myopathy congenital with excess of thin myofilaments (MPCETM) [MIM:161800]
ACTA1 P68133 VAR_011685 p.Glu261Val Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_011686 p.Gly270Cys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_011687 p.Val372Phe Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_013470 p.Met134Val Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_013471 p.Met271Arg Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015579 p.His42Tyr Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015580 p.Gly184Asp Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015581 p.Arg185Gly Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015582 p.Arg185Cys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015583 p.Arg258His Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015584 p.Gln265Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015585 p.Asn282Lys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015586 p.Asp288Gly Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015587 p.Ile359Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_032917 p.Leu223Pro Disease - Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1 P68133 VAR_032918 p.Asp294Val Disease - Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1 P68133 VAR_032919 p.Pro334Ser Disease - Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1 P68133 VAR_062424 p.Asp3Tyr Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062425 p.Asp27Asn Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062426 p.Val37Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062427 p.Pro40Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062428 p.Gln43Arg Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062429 p.Gly44Val Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062430 p.Val45Phe Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062431 p.Ile66Asn Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062432 p.Thr68Ile Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062433 p.Glu74Lys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062434 p.His75Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062435 p.His75Arg Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062436 p.Ile77Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062437 p.Thr79Ala Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062438 p.Glu85Lys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062439 p.Ala116Thr Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062440 p.Asn117Thr Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062441 p.Arg118His Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062442 p.Val136Ala Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062443 p.Ala140Pro Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062444 p.Leu142Pro Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062445 p.Gly148Asp Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062446 p.Thr150Asn Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062447 p.Asp156Asn Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062448 p.Val165Met Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062449 p.Ala172Gly Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062450 p.Asp181Gly Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062451 p.Asp181His Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062452 p.Asp181Asn Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062453 p.Arg185Asp Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062454 p.Arg185Ser Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062455 p.Arg198Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062456 p.Gly199Ser Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062457 p.Glu226Gly Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062458 p.Glu226Gln Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062459 p.Asn227Val Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062460 p.Met229Ile Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062461 p.Met229Thr Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062462 p.Met229Val Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062463 p.Glu243Lys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062464 p.Gln248Lys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062465 p.Gln248Arg Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062466 p.Gly253Asp Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062467 p.Arg258Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062468 p.Gly270Asp Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062469 p.Gly270Arg Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062470 p.Ala274Glu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062471 p.Tyr281His Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062472 p.Met285Lys Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062473 p.Glu336Ala Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062474 p.Lys338Glu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062475 p.Lys338Ile Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062476 p.Ser350Leu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062477 p.Arg374Ser Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062478 p.Lys375Glu Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062479 p.Lys375Gln Disease - Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA2 P62736 VAR_011944 p.Thr196Ser Polymorphism rs1803028 -
ACTA2 P62736 VAR_011945 p.Thr320Ala Polymorphism rs1803027 -
ACTA2 P62736 VAR_011946 p.His373Pro Polymorphism rs1062398 -
ACTA2 P62736 VAR_045915 p.Asn117Thr Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045916 p.Arg118Gln Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045917 p.Tyr135His Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045918 p.Arg149Cys Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045919 p.Val154Ala Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045920 p.Arg258Cys Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045921 p.Arg258His Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045922 p.Arg292Gly Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045923 p.Thr353Asn Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_062577 p.Arg39His Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_062578 p.Tyr145Cys Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_062579 p.Arg185Gln Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_062580 p.Arg212Gln Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_062581 p.Thr326Asn Disease - Familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_064516 p.Arg179His Disease - Moyamoya disease type 5 (MYMY5) [MIM:614042]
ACTA2 P62736 VAR_064516 p.Arg179His Disease - Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]
ACTB P60709 VAR_030026 p.Arg183Trp Disease - Dystonia juvenile-onset (DYTJ) [MIM:607371]
ACTB P60709 VAR_048185 p.Pro243Leu Polymorphism rs11546899 -
ACTC1 P68032 VAR_012857 p.Glu101Lys Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_012858 p.Pro166Ala Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_012859 p.Ala297Ser Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_012860 p.Arg314His Disease - Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]
ACTC1 P68032 VAR_012861 p.Ala333Pro Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_012862 p.Glu363Gly Disease - Cardiomyopathy dilated type 1R (CMD1R) [MIM:613424]
ACTC1 P68032 VAR_045924 p.His90Tyr Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_045925 p.Arg97Cys Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_046502 p.Met125Val Disease - Atrial septal defect type 5 (ASD5) [MIM:612794]
ACTC1 P68032 VAR_046503 p.Tyr168Cys Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_046504 p.Met307Leu Disease - Familial hypertrophic cardiomyopathy type 11 (CMH11) [MIM:612098]
ACTG1 P63261 VAR_032434 p.Thr89Ile Disease rs28999111 Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_032435 p.Lys118Met Disease - Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_032436 p.Pro264Leu Disease - Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_032437 p.Thr278Ile Disease rs28999112 Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_032438 p.Pro332Ala Disease - Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_032439 p.Val370Ala Disease - Deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_048186 p.Thr160Ile Polymorphism rs11549206 -
ACTG1 P63261 VAR_055482 p.Pro243Leu Polymorphism rs11546899 -
ACTL7A Q9Y615 VAR_024362 p.Val340Met Polymorphism rs7872077 -
ACTL7A Q9Y615 VAR_031425 p.Arg45Cys Polymorphism - -
ACTL7A Q9Y615 VAR_033460 p.Ala161Pro Polymorphism rs35995497 -
ACTL7A Q9Y615 VAR_060998 p.Leu343Val Polymorphism rs56031956 -
ACTL8 Q9H568 VAR_032079 p.Ala3Ser Polymorphism rs694214 -
ACTL8 Q9H568 VAR_032080 p.Arg245Cys Polymorphism rs3795322 -
ACTL9 Q8TC94 VAR_043000 p.Phe37Ser Polymorphism rs2340550 -
ACTL9 Q8TC94 VAR_043001 p.Ala42Asp Unclassified - A colorectal cancer sample
ACTL9 Q8TC94 VAR_043002 p.Val51Ala Polymorphism rs10410943 -
ACTL9 Q8TC94 VAR_043003 p.His227Asn Polymorphism rs4804079 -
ACTL9 Q8TC94 VAR_043004 p.Ala332Thr Unclassified - A colorectal cancer sample
ACTN1 P12814 VAR_053883 p.Asn707Thr Polymorphism rs7157661 -
ACTN1 P12814 VAR_053884 p.Thr868Ser Polymorphism rs11557769 -
ACTN2 P35609 VAR_033487 p.Met604Val Polymorphism rs35997569 -
ACTN2 P35609 VAR_054628 p.Gln9Arg Disease - Cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158]
ACTN3 Q08043 VAR_012705 p.Arg523Gln Polymorphism rs1671064 -
ACTN3 Q08043 VAR_033488 p.Glu635Ala Polymorphism rs2229456 -
ACTN3 Q08043 VAR_047528 p.Cys628Arg Polymorphism rs618838 -
ACTN3 Q08043 VAR_047529 p.Gln776Arg Polymorphism rs540874 -
ACTN4 O43707 VAR_010378 p.Lys255Glu Disease rs28939374 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]
ACTN4 O43707 VAR_010379 p.Thr259Ile Disease rs28939375 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]
ACTN4 O43707 VAR_010380 p.Ser262Pro Disease rs28939376 Focal segmental glomerulosclerosis type 1 (FSGS1) [MIM:603278]
ACTR1B P42025 VAR_025315 p.Val93Ala Polymorphism rs11547231 -
ACTR1B P42025 VAR_048187 p.Ala143Val Polymorphism rs11692435 -
ACTR3B Q9P1U1 VAR_048188 p.Arg250Gln Polymorphism rs2260545 -
ACTR5 Q9H9F9 VAR_027158 p.Arg298Leu Polymorphism rs17853829 -
ACTR5 Q9H9F9 VAR_027159 p.Ile483Val Polymorphism rs2245231 -
ACTR5 Q9H9F9 VAR_027160 p.Pro580Leu Polymorphism rs3752289 -
ACTR5 Q9H9F9 VAR_048189 p.Ile461Leu Polymorphism rs35805905 -
ACTR8 Q9H981 VAR_028033 p.Thr56Ile Polymorphism rs3733082 -
ACTRT2 Q8TDY3 VAR_020416 p.Gly247Arg Polymorphism rs3795263 -
ACVR1 Q04771 VAR_028444 p.Arg206His Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 Q04771 VAR_041392 p.Ala15Gly Polymorphism rs13406336 -
ACVR1 Q04771 VAR_041393 p.Ser41Phe Polymorphism rs55957214 -
ACVR1 Q04771 VAR_041394 p.His47Gln Polymorphism rs34056189 -
ACVR1 Q04771 VAR_041395 p.Pro115Ser Unclassified - A melanoma sample
ACVR1 Q04771 VAR_058419 p.Arg202Ile Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 Q04771 VAR_058420 p.Gln207Glu Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 Q04771 VAR_058421 p.Gly328Glu Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 Q04771 VAR_058422 p.Gly328Arg Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 Q04771 VAR_058423 p.Gly328Trp Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 Q04771 VAR_058424 p.Gly356Asp Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 Q04771 VAR_058425 p.Arg375Pro Disease - Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1B P36896 VAR_011716 p.Leu408Val Polymorphism rs928906 -
ACVR1B P36896 VAR_041406 p.Phe146Leu Polymorphism rs34488074 -
ACVR1C Q8NER5 VAR_041407 p.Ile195Thr Polymorphism - -
ACVR1C Q8NER5 VAR_041408 p.Gly216Arg Polymorphism - -
ACVR1C Q8NER5 VAR_041409 p.Trp267Arg Unclassified - A lung squamous cell carcinoma sample
ACVR1C Q8NER5 VAR_041410 p.Ile355Val Polymorphism - -
ACVR1C Q8NER5 VAR_041411 p.Ile482Val Polymorphism rs7594480 -
ACVR2A P27037 VAR_032809 p.Ser258Arg Polymorphism rs34917571 -
ACVR2A P27037 VAR_032810 p.Asp306Asn Unclassified - A gastric adenocarcinoma sample
ACVR2A P27037 VAR_064692 p.Ala367Thr Unclassified - -
ACVR2B Q13705 VAR_013281 p.Arg40His Disease - Visceral heterotaxy autosomal type 4 (HTX4) [MIM:613751]
ACVR2B Q13705 VAR_013282 p.Val494Ile Disease - Visceral heterotaxy autosomal type 4 (HTX4) [MIM:613751]
ACVR2B Q13705 VAR_041396 p.Pro176Arg Polymorphism rs35882617 -
ACVR2B Q13705 VAR_050594 p.Glu459Asp Polymorphism rs500611 -
ACVRL1 P37023 VAR_006204 p.Trp50Cys Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006205 p.Cys51Tyr Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006206 p.Arg67Gln Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006207 p.Cys77Trp Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006208 p.Asn96Asp Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006210 p.Ser333Ile Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006211 p.Arg374Trp Disease rs28936401 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006212 p.Met376Arg Disease rs28936399 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006213 p.Arg411Gln Disease rs28936398 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006214 p.Pro424Thr Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_011717 p.Ile245Asn Polymorphism rs1804508 -
ACVRL1 P37023 VAR_026785 p.Gly48Arg Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026786 p.Arg67Trp Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026787 p.Asp179Ala Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026788 p.Gly211Asp Disease rs28936687 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026789 p.Glu215Lys Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026790 p.Gly223Arg Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026791 p.Lys229Arg Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026794 p.Leu285Phe Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026795 p.Ala306Pro Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026796 p.His314Tyr Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026797 p.Leu337Pro Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026798 p.Cys344Tyr Disease rs28936688 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026799 p.Ala347Pro Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026800 p.Arg374Gln Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026801 p.Met376Val Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026802 p.Pro378Leu Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026803 p.Glu379Lys Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026804 p.Asp397Gly Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026805 p.Ile398Asn Disease rs28936400 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026806 p.Trp399Ser Disease rs28936402 Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026807 p.Glu407Asp Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026808 p.Arg411Pro Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026809 p.Arg411Trp Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026810 p.Phe425Leu Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026811 p.Phe425Val Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026813 p.Arg479Leu Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026814 p.Ala482Val Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026815 p.Arg484Trp Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026816 p.Lys487Thr Disease - Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACY1 Q03154 VAR_020452 p.Arg386Cys Disease rs2229152 Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1 Q03154 VAR_026104 p.Glu233Asp Disease - Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1 Q03154 VAR_026105 p.Arg353Cys Disease - Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1 Q03154 VAR_036076 p.Glu381Asp Unclassified - A breast cancer sample
ACY1 Q03154 VAR_043113 p.Arg197Trp Disease - Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1 Q03154 VAR_043114 p.Arg393His Disease - Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1 Q03154 VAR_051805 p.Asn179Ser Polymorphism rs887540 -
ACY1 Q03154 VAR_065562 p.Arg378Gln Disease - Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1 Q03154 VAR_065563 p.Arg378Trp Disease - Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY3 Q96HD9 VAR_048341 p.Arg8Gln Polymorphism rs948445 -
ACY3 Q96HD9 VAR_048342 p.Val281Met Polymorphism rs2290959 -
ADA P00813 VAR_002209 p.Asp8Asn Polymorphism - -
ADA P00813 VAR_002210 p.His15Asp Disease rs121908725 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002211 p.Gly20Arg Disease rs121908724 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002212 p.Gly74Cys Disease rs121908730 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002213 p.Arg76Trp Disease rs121908736 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002214 p.Lys80Arg Polymorphism rs11555566 -
ADA P00813 VAR_002215 p.Ala83Asp Disease rs121908726 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002216 p.Arg101Leu Disease rs121908720 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002217 p.Arg101Trp Disease rs28930969 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002218 p.Arg101Gln Disease rs28930970 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002219 p.Leu107Pro Disease rs121908739 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002220 p.Val129Met Disease rs121908731 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002221 p.Gly140Glu Disease rs121908732 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002222 p.Arg142Gln Unclassified rs61732239 A pancreatic ductal adenocarcinoma sample
ADA P00813 VAR_002223 p.Arg149Gln Disease rs121908737 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002224 p.Arg149Trp Disease rs121908733 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002225 p.Leu152Met Polymorphism rs28930972 -
ADA P00813 VAR_002226 p.Arg156Cys Disease rs121908735 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002227 p.Arg156His Disease rs121908722 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002228 p.Val177Met Disease rs121908719 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002229 p.Ala179Asp Disease rs121908727 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002230 p.Gln199Pro Disease rs121908734 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002231 p.Arg211Cys Disease rs121908740 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002232 p.Arg211His Disease rs121908716 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002233 p.Ala215Thr Disease rs114025668 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002234 p.Gly216Arg Disease rs121908723 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002235 p.Thr233Ile Polymorphism rs121908729 -
ADA P00813 VAR_002236 p.Pro274Leu Disease rs121908738 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002237 p.Ser291Leu Disease rs121908721 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002238 p.Pro297Gln Disease rs121908718 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002239 p.Leu304Arg Disease - Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA P00813 VAR_002240 p.Ala329Val Disease rs121908715 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADAD2 Q8NCV1 VAR_036976 p.Gly44Glu Polymorphism rs8044695 -
ADAD2 Q8NCV1 VAR_055650 p.Gly235Arg Polymorphism rs11149631 -
ADAM10 O14672 VAR_066309 p.His176Tyr Unclassified - A cutaneous metastatic melanoma sample
ADAM11 O75078 VAR_062669 p.Ser693Arg Unclassified - A pancreatic ductal adenocarcinoma sample
ADAM12 O43184 VAR_036143 p.Asp301His Unclassified - A breast cancer sample
ADAM12 O43184 VAR_036144 p.Gly479Glu Unclassified - A breast cancer sample
ADAM12 O43184 VAR_036145 p.Leu792Phe Unclassified - A breast cancer sample
ADAM12 O43184 VAR_038542 p.Gly48Arg Polymorphism rs3740199 -
ADAM12 O43184 VAR_066310 p.Gly712Glu Unclassified - A cutaneous metastatic melanoma sample
ADAM12 O43184 VAR_066311 p.Pro893Ser Unclassified - A cutaneous metastatic melanoma sample
ADAM15 Q13444 VAR_054339 p.Pro502Gln Polymorphism rs17093828 -
ADAM15 Q13444 VAR_060315 p.Lys191Thr Polymorphism rs6427128 -
ADAM15 Q13444 VAR_060316 p.Pro294His Polymorphism rs2306122 -
ADAM17 P78536 VAR_051586 p.Lys162Glu Polymorphism rs34431503 -
ADAM17 P78536 VAR_051587 p.Arg202Gly Polymorphism rs2230818 -
ADAM18 Q9Y3Q7 VAR_051588 p.Val212Phe Polymorphism rs10093794 -
ADAM18 Q9Y3Q7 VAR_066312 p.Pro170Ser Unclassified - A cutaneous metastatic melanoma sample
ADAM18 Q9Y3Q7 VAR_066313 p.Val284Gly Unclassified - A cutaneous metastatic melanoma sample
ADAM18 Q9Y3Q7 VAR_066314 p.Met344Ile Unclassified - A cutaneous metastatic melanoma sample
ADAM18 Q9Y3Q7 VAR_066315 p.Met362Lys Unclassified - A cutaneous metastatic melanoma sample
ADAM18 Q9Y3Q7 VAR_066316 p.Ser536Leu Unclassified - A cutaneous metastatic melanoma sample
ADAM19 Q9H013 VAR_036146 p.Arg133Gln Unclassified - A colorectal cancer sample
ADAM19 Q9H013 VAR_036147 p.Ala298Thr Unclassified - A colorectal cancer sample
ADAM19 Q9H013 VAR_057066 p.Gly4Ser Polymorphism rs11465228 -
ADAM19 Q9H013 VAR_062670 p.His609Gln Unclassified - A pancreatic ductal adenocarcinoma sample
ADAM2 Q99965 VAR_035217 p.Gly10Trp Polymorphism rs34800519 -
ADAM20 O43506 VAR_047311 p.Phe19Leu Polymorphism rs1059166 -
ADAM22 Q9P0K1 VAR_020057 p.Pro81Arg Polymorphism rs2279542 -
ADAM22 Q9P0K1 VAR_051589 p.His119Tyr Polymorphism rs4728730 -
ADAM22 Q9P0K1 VAR_051590 p.Val207Ile Polymorphism rs17255978 -
ADAM28 Q9UKQ2 VAR_024596 p.Val765Met Polymorphism rs7814768 -
ADAM28 Q9UKQ2 VAR_057067 p.Arg219Met Polymorphism rs9314282 -
ADAM28 Q9UKQ2 VAR_057068 p.Glu226Asp Polymorphism rs17736699 -
ADAM28 Q9UKQ2 VAR_057069 p.Asn493Ser Polymorphism rs7001647 -
ADAM28 Q9UKQ2 VAR_057070 p.Thr593Lys Polymorphism rs36041430 -
ADAM28 Q9UKQ2 VAR_057071 p.Thr604Pro Polymorphism rs35617826 -
ADAM28 Q9UKQ2 VAR_057072 p.Met684Ile Polymorphism rs7829965 -
ADAM28 Q9UKQ2 VAR_066317 p.Gly65Glu Unclassified - A cutaneous metastatic melanoma sample
ADAM28 Q9UKQ2 VAR_066318 p.Gly134Glu Unclassified - A cutaneous metastatic melanoma sample
ADAM28 Q9UKQ2 VAR_066319 p.Gly450Glu Unclassified - A cutaneous metastatic melanoma sample
ADAM28 Q9UKQ2 VAR_066320 p.Ser482Phe Unclassified - A cutaneous metastatic melanoma sample
ADAM28 Q9UKQ2 VAR_066321 p.Gly502Asp Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_036148 p.Pro31Leu Unclassified - A colorectal cancer sample
ADAM29 Q9UKF5 VAR_036149 p.Val205Ile Unclassified - A colorectal cancer sample
ADAM29 Q9UKF5 VAR_066322 p.Leu72Phe Unclassified - A melanoma cell line
ADAM29 Q9UKF5 VAR_066323 p.Ile89Met Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_066324 p.Glu111Lys Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_066325 p.Ser112Phe Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_066326 p.Ser115Phe Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_066327 p.Asp131Asn Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_066328 p.Glu176Lys Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_066329 p.Ser234Phe Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_066330 p.Ile257Phe Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_066331 p.Gly305Glu Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_066332 p.Asp345Asn Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_066333 p.Gly403Asp Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_066334 p.Gly434Asp Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_066335 p.Glu503Lys Unclassified - A cutaneous metastatic melanoma sample
ADAM29 Q9UKF5 VAR_066336 p.His533Tyr Unclassified - A cutaneous metastatic melanoma sample
ADAM30 Q9UKF2 VAR_024597 p.Leu359Pro Polymorphism rs2641348 -
ADAM30 Q9UKF2 VAR_061738 p.Thr737Ala Polymorphism rs35273427 -
ADAM32 Q8TC27 VAR_051591 p.Thr467Ser Polymorphism rs7845771 -
ADAM32 Q8TC27 VAR_055241 p.Gln98Arg Polymorphism rs17856744 -
ADAM32 Q8TC27 VAR_055242 p.Ser160Gly Polymorphism rs17852343 -
ADAM32 Q8TC27 VAR_055243 p.Leu327Val Polymorphism rs9643859 -
ADAM32 Q8TC27 VAR_055244 p.Lys658Asn Polymorphism rs13277386 -
ADAM32 Q8TC27 VAR_061739 p.Asp778Glu Polymorphism rs28705715 -
ADAM33 Q9BZ11 VAR_021847 p.Met764Thr Polymorphism rs2280091 -
ADAM33 Q9BZ11 VAR_029143 p.Thr178Ala Polymorphism rs3918392 -
ADAM33 Q9BZ11 VAR_029144 p.Pro774Ser Polymorphism rs2280090 -
ADAM33 Q9BZ11 VAR_030512 p.Asn109Ser Polymorphism rs41467948 -
ADAM33 Q9BZ11 VAR_030513 p.Thr272Met Polymorphism rs41534847 -
ADAM33 Q9BZ11 VAR_030514 p.Val316Ile Polymorphism rs41459049 -
ADAM33 Q9BZ11 VAR_030515 p.Pro336Ser Polymorphism rs41483049 -
ADAM33 Q9BZ11 VAR_030516 p.Ala365Ser Polymorphism rs41419248 -
ADAM33 Q9BZ11 VAR_030517 p.Asp441Glu Polymorphism rs41382144 -
ADAM33 Q9BZ11 VAR_030518 p.Trp515Arg Polymorphism rs615436 -
ADAM33 Q9BZ11 VAR_030519 p.Leu612His Polymorphism rs41453444 -
ADAM33 Q9BZ11 VAR_030520 p.Val710Ile Polymorphism rs3918396 -
ADAM33 Q9BZ11 VAR_030521 p.Cys739Gly Polymorphism rs41434648 -
ADAM33 Q9BZ11 VAR_030522 p.Asp742Tyr Polymorphism rs41462450 -
ADAM33 Q9BZ11 VAR_066337 p.Ala305Val Unclassified - A cutaneous metastatic melanoma sample
ADAM7 Q9H2U9 VAR_046728 p.Glu25Gln Polymorphism rs34852692 -
ADAM7 Q9H2U9 VAR_046729 p.Ile205Val Polymorphism rs7829386 -
ADAM7 Q9H2U9 VAR_046730 p.Val244Met Polymorphism rs13255694 -
ADAM7 Q9H2U9 VAR_046731 p.Ile453Thr Polymorphism rs3736281 -
ADAM7 Q9H2U9 VAR_046732 p.Leu570Val Polymorphism rs2307044 -
ADAM7 Q9H2U9 VAR_046733 p.Asn638His Polymorphism rs13259668 -
ADAM7 Q9H2U9 VAR_046734 p.Leu735Pro Polymorphism rs6980829 -
ADAM7 Q9H2U9 VAR_066296 p.Pro14Ser Unclassified - A cutaneous metastatic melanoma sample
ADAM7 Q9H2U9 VAR_066297 p.Arg31Cys Unclassified - A cutaneous metastatic melanoma sample
ADAM7 Q9H2U9 VAR_066298 p.Pro36Ser Unclassified - A cutaneous metastatic melanoma sample
ADAM7 Q9H2U9 VAR_066299 p.His106Tyr Unclassified - A cutaneous metastatic melanoma sample
ADAM7 Q9H2U9 VAR_066300 p.Leu173Pro Unclassified - -
ADAM7 Q9H2U9 VAR_066301 p.Val180Ala Unclassified - A cutaneous metastatic melanoma sample
ADAM7 Q9H2U9 VAR_066302 p.His243Tyr Unclassified - A cutaneous metastatic melanoma sample
ADAM7 Q9H2U9 VAR_066303 p.Gly302Glu Unclassified - A cutaneous metastatic melanoma sample
ADAM7 Q9H2U9 VAR_066304 p.Met359Ile Unclassified - A cutaneous metastatic melanoma sample
ADAM7 Q9H2U9 VAR_066305 p.Gly533Glu Unclassified - A cutaneous metastatic melanoma sample
ADAM7 Q9H2U9 VAR_066306 p.Phe593Leu Unclassified - -
ADAM7 Q9H2U9 VAR_066307 p.Glu639Lys Unclassified - A cutaneous metastatic melanoma sample
ADAM7 Q9H2U9 VAR_066308 p.Ser703Asn Unclassified - A cutaneous metastatic melanoma sample
ADAM8 P78325 VAR_059760 p.Gly101Arg Polymorphism rs11101675 -
ADAM8 P78325 VAR_061735 p.Arg189Trp Polymorphism rs45451297 -
ADAM8 P78325 VAR_061736 p.Arg433Cys Polymorphism rs12257830 -
ADAM8 P78325 VAR_061737 p.Ile775Thr Polymorphism rs3008319 -
ADAMDEC1 O15204 VAR_021848 p.Asn444Ser Polymorphism rs3765124 -
ADAMDEC1 O15204 VAR_024598 p.Met121Thr Polymorphism rs7007084 -
ADAMTS1 Q9UHI8 VAR_030001 p.Ala227Pro Polymorphism rs428785 -
ADAMTS10 Q9H324 VAR_054439 p.Ala25Thr Disease - Weill-Marchesani syndrome autosomal recessive (ARWMS) [MIM:277600]
ADAMTS10 Q9H324 VAR_054440 p.Arg119Gln Polymorphism rs3814291 -
ADAMTS10 Q9H324 VAR_054441 p.Thr134Ser Polymorphism rs7255721 -
ADAMTS12 P58397 VAR_057074 p.Gln110Glu Polymorphism rs16891862 -
ADAMTS12 P58397 VAR_057075 p.Arg1000Gln Polymorphism rs13362345 -
ADAMTS12 P58397 VAR_058972 p.Thr1495Ile Polymorphism rs25754 -
ADAMTS12 P58397 VAR_059761 p.Trp1177Arg Polymorphism rs3813474 -
ADAMTS12 P58397 VAR_059762 p.Ser1591Pro Polymorphism rs16891281 -
ADAMTS13 Q76LX8 VAR_027109 p.Arg7Trp Polymorphism rs34024143 -
ADAMTS13 Q76LX8 VAR_027110 p.Val88Met Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027111 p.His96Asp Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027112 p.Arg102Cys Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027113 p.Arg193Trp Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027114 p.Thr196Ile Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027115 p.His234Gln Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027116 p.Ala250Val Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027117 p.Arg268Pro Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027118 p.Trp390Cys Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027119 p.Arg398His Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027120 p.Gln448Glu Polymorphism rs2301612 -
ADAMTS13 Q76LX8 VAR_027121 p.Pro475Ser Polymorphism rs11575933 -
ADAMTS13 Q76LX8 VAR_027122 p.Cys508Tyr Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027123 p.Arg528Gly Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027124 p.Pro618Ala Polymorphism rs28647808 -
ADAMTS13 Q76LX8 VAR_027125 p.Arg625His Polymorphism rs36090624 -
ADAMTS13 Q76LX8 VAR_027126 p.Ile673Phe Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027127 p.Arg692Cys Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027128 p.Ala732Val Polymorphism rs41314453 -
ADAMTS13 Q76LX8 VAR_027129 p.Ala900Val Polymorphism rs685523 -
ADAMTS13 Q76LX8 VAR_027130 p.Ser903Leu Polymorphism - -
ADAMTS13 Q76LX8 VAR_027131 p.Cys908Tyr Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027132 p.Cys951Gly Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027133 p.Cys1024Gly Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027134 p.Ala1033Thr Polymorphism rs28503257 -
ADAMTS13 Q76LX8 VAR_027135 p.Arg1095Trp Unclassified - -
ADAMTS13 Q76LX8 VAR_027136 p.Arg1123Cys Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027137 p.Cys1213Tyr Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027138 p.Gly1239Val Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027139 p.Arg1336Trp Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027162 p.Gln456His Polymorphism rs36220239 -
ADAMTS13 Q76LX8 VAR_027163 p.Pro457Leu Polymorphism rs36220240 -
ADAMTS13 Q76LX8 VAR_027164 p.Glu740Lys Polymorphism rs36221451 -
ADAMTS13 Q76LX8 VAR_027165 p.Gly982Arg Polymorphism rs36222275 -
ADAMTS13 Q76LX8 VAR_027166 p.Thr1226Ile Polymorphism rs36222894 -
ADAMTS14 Q8WXS8 VAR_047837 p.Arg179Cys Polymorphism rs34022601 -
ADAMTS14 Q8WXS8 VAR_047838 p.Leu590Pro Polymorphism rs10823607 -
ADAMTS14 Q8WXS8 VAR_047839 p.Leu937Met Polymorphism rs12774070 -
ADAMTS14 Q8WXS8 VAR_047840 p.Ser1017Asn Polymorphism rs10999516 -
ADAMTS14 Q8WXS8 VAR_047841 p.Glu1049Gly Polymorphism rs4747096 -
ADAMTS15 Q8TE58 VAR_036150 p.Gln770Arg Unclassified - A colorectal cancer sample
ADAMTS15 Q8TE58 VAR_036151 p.Cys878Gly Unclassified - A colorectal cancer sample
ADAMTS15 Q8TE58 VAR_051594 p.Asn623Ser Polymorphism rs11222114 -
ADAMTS16 Q8TE57 VAR_057076 p.Met110Val Polymorphism rs1863968 -
ADAMTS16 Q8TE57 VAR_057077 p.Ala486Thr Polymorphism rs16875054 -
ADAMTS16 Q8TE57 VAR_057078 p.Arg789Cys Polymorphism rs9313105 -
ADAMTS16 Q8TE57 VAR_057079 p.Arg859Leu Polymorphism rs16875122 -
ADAMTS16 Q8TE57 VAR_057080 p.Glu863Lys Polymorphism rs35394775 -
ADAMTS17 Q8TE56 VAR_057081 p.Ser216Leu Polymorphism rs7496668 -
ADAMTS17 Q8TE56 VAR_057082 p.Met482Thr Polymorphism rs28567966 -
ADAMTS17 Q8TE56 VAR_060317 p.Asn1094Ser Polymorphism rs2573652 -
ADAMTS17 Q8TE56 VAR_064041 p.Arg566Thr Polymorphism - -
ADAMTS18 Q8TE60 VAR_036152 p.Arg382Lys Unclassified - A colorectal cancer sample
ADAMTS18 Q8TE60 VAR_036153 p.Lys455Thr Unclassified - A colorectal cancer sample
ADAMTS18 Q8TE60 VAR_057083 p.Leu769Ile Polymorphism rs9930984 -
ADAMTS18 Q8TE60 VAR_057084 p.Ala946Ser Polymorphism rs12935394 -
ADAMTS18 Q8TE60 VAR_057085 p.Ser1080Arg Polymorphism rs35478105 -
ADAMTS18 Q8TE60 VAR_057086 p.Ser1159Thr Polymorphism rs3743749 -
ADAMTS18 Q8TE60 VAR_060231 p.Tyr191His Polymorphism rs11643211 -
ADAMTS18 Q8TE60 VAR_060232 p.Leu626Ile Polymorphism rs11640912 -
ADAMTS18 Q8TE60 VAR_066554 p.Ser179Leu Disease - Knobloch syndrome type 2 (KNO2) [MIM:608454]
ADAMTS19 Q8TE59 VAR_024599 p.Tyr1089Phe Polymorphism rs11749126 -
ADAMTS19 Q8TE59 VAR_036154 p.Leu360Ile Unclassified - A breast cancer sample
ADAMTS19 Q8TE59 VAR_057087 p.Glu582Gly Polymorphism rs10062501 -
ADAMTS2 O95450 VAR_020058 p.Val245Ile Polymorphism rs398829 -
ADAMTS2 O95450 VAR_020059 p.Pro1177Ser Polymorphism rs1054480 -
ADAMTS2 O95450 VAR_047927 p.Val74Met Polymorphism rs2271211 -
ADAMTS2 O95450 VAR_047928 p.Arg241His Polymorphism rs11750821 -
ADAMTS2 O95450 VAR_047929 p.Glu331Lys Polymorphism rs17667857 -
ADAMTS2 O95450 VAR_047930 p.Gly665Arg Polymorphism rs35372714 -
ADAMTS2 O95450 VAR_047931 p.Arg827Gln Polymorphism rs35445112 -
ADAMTS20 P59510 VAR_057088 p.Lys876Met Polymorphism rs7302446 -
ADAMTS20 P59510 VAR_057089 p.Arg1000His Polymorphism rs7297737 -
ADAMTS20 P59510 VAR_057090 p.Ser1273Phe Polymorphism rs7310011 -
ADAMTS3 O15072 VAR_055012 p.Arg138Lys Polymorphism rs788908 -
ADAMTS3 O15072 VAR_055013 p.Ser1074Pro Polymorphism rs35864003 -
ADAMTS4 O75173 VAR_022450 p.Gln626Arg Polymorphism rs4233367 -
ADAMTS4 O75173 VAR_030636 p.Thr4Ile Polymorphism rs17855814 -
ADAMTS4 O75173 VAR_030637 p.Asp304Asn Polymorphism rs17855813 -
ADAMTS4 O75173 VAR_030638 p.Met369Val Polymorphism rs17855812 -
ADAMTS4 O75173 VAR_030639 p.Pro552Thr Polymorphism rs17855815 -
ADAMTS4 O75173 VAR_030640 p.Thr564Ala Polymorphism rs17855816 -
ADAMTS4 O75173 VAR_030641 p.Arg836Lys Polymorphism rs11807350 -
ADAMTS4 O75173 VAR_057073 p.Ala77Thr Polymorphism rs34448954 -
ADAMTS5 Q9UNA0 VAR_021849 p.Arg614His Polymorphism rs2830585 -
ADAMTS5 Q9UNA0 VAR_028199 p.Gly138Ala Polymorphism rs457947 -
ADAMTS5 Q9UNA0 VAR_028200 p.Leu692Pro Polymorphism rs226794 -
ADAMTS7 Q9UKP4 VAR_046112 p.Ser214Pro Polymorphism rs3825807 -
ADAMTS7 Q9UKP4 VAR_046113 p.Thr307Met Polymorphism rs2127898 -
ADAMTS7 Q9UKP4 VAR_046114 p.Thr1319Ala Polymorphism rs11630236 -
ADAMTS7 Q9UKP4 VAR_046115 p.Gly1414Ser Polymorphism rs2929155 -
ADAMTS7 Q9UKP4 VAR_046116 p.Gly1583Ala Polymorphism rs7495616 -
ADAMTS9 Q9P2N4 VAR_047081 p.Ser96Pro Polymorphism rs36115950 -
ADAMTS9 Q9P2N4 VAR_047082 p.Lys1579Glu Polymorphism rs17071010 -
ADAMTS9 Q9P2N4 VAR_047083 p.Asp1674Glu Polymorphism rs6787633 -
ADAMTS9 Q9P2N4 VAR_047084 p.Lys1740Arg Polymorphism rs17070967 -
ADAMTS9 Q9P2N4 VAR_047085 p.Glu1791Gln Polymorphism rs3796381 -
ADAMTS9 Q9P2N4 VAR_047086 p.Arg1933Gln Polymorphism rs17070905 -
ADAMTS9 Q9P2N4 VAR_051592 p.Ser96Thr Polymorphism rs36115950 -
ADAMTS9 Q9P2N4 VAR_051593 p.Lys1921Glu Polymorphism rs17070909 -
ADAMTSL1 Q8N6G6 VAR_017174 p.Ser242Asn Polymorphism rs776755 -
ADAMTSL2 Q86TH1 VAR_046011 p.Val364Ile Polymorphism rs35767802 -
ADAMTSL2 Q86TH1 VAR_054874 p.Arg113His Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_054875 p.Glu114Lys Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_054876 p.Pro147Leu Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_054877 p.Gly811Arg Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066543 p.Trp50Cys Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066544 p.Arg72Gln Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066545 p.Arg159Trp Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066546 p.Ala165Thr Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066547 p.Cys171Arg Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066548 p.Arg221Cys Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066549 p.Ala239Thr Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066551 p.Arg593Cys Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066552 p.Ser635Leu Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066553 p.Pro906Leu Disease - Geleophysic dysplasia type 1 (GPHYSD1) [MIM:231050]
ADAMTSL3 P82987 VAR_027478 p.His146Arg Polymorphism rs4483821 -
ADAMTSL3 P82987 VAR_027479 p.Leu290Val Polymorphism rs4144691 -
ADAMTSL3 P82987 VAR_027480 p.Val661Leu Polymorphism rs4842838 -
ADAMTSL3 P82987 VAR_027481 p.Arg855His Polymorphism rs2277848 -
ADAMTSL3 P82987 VAR_027482 p.Leu869Phe Polymorphism rs2277849 -
ADAMTSL3 P82987 VAR_027483 p.Thr1370Ala Polymorphism rs17158450 -
ADAMTSL3 P82987 VAR_027484 p.Met1558Thr Polymorphism rs7175910 -
ADAMTSL3 P82987 VAR_027485 p.Thr1660Ile Polymorphism rs950169 -
ADAMTSL3 P82987 VAR_027486 p.Arg1679His Polymorphism rs11857906 -
ADAMTSL3 P82987 VAR_035809 p.Val330Met Unclassified - A colorectal cancer sample
ADAMTSL3 P82987 VAR_035810 p.Arg587His Unclassified - A colorectal cancer sample
ADAMTSL3 P82987 VAR_035811 p.Arg855Cys Unclassified - A colorectal cancer sample
ADAMTSL3 P82987 VAR_035812 p.Ala1315Glu Unclassified - A colorectal cancer sample
ADAMTSL3 P82987 VAR_057365 p.Gly713Arg Polymorphism rs34047645 -
ADAMTSL4 Q6UY14 VAR_061918 p.Ala193Pro Polymorphism rs41317515 -
ADAMTSL4 Q6UY14 VAR_061919 p.Arg1028His Polymorphism rs56411234 -
ADAP1 O75689 VAR_047470 p.Gly241Ser Polymorphism rs10256887 -
ADAR P55265 VAR_017240 p.Lys384Arg Polymorphism rs2229857 -
ADAR P55265 VAR_017604 p.Leu923Pro Disease rs28936680 Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]
ADAR P55265 VAR_017605 p.Phe1165Ser Disease rs28936681 Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]
ADAR P55265 VAR_021729 p.Cys966Phe Disease - Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]
ADAR P55265 VAR_024407 p.Tyr587Cys Polymorphism rs17843865 -
ADAR P55265 VAR_026669 p.Arg1155Trp Disease - Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]
ADAR P55265 VAR_035805 p.Glu806Val Unclassified - A breast cancer sample
ADAR P55265 VAR_048725 p.Arg100Gly Polymorphism rs1466731 -
ADARB2 Q9NS39 VAR_020438 p.Ala44Thr Polymorphism rs3793733 -
ADARB2 Q9NS39 VAR_035806 p.Thr210Met Unclassified - A colorectal cancer sample
ADARB2 Q9NS39 VAR_035807 p.Val512Ile Unclassified - A colorectal cancer sample
ADARB2 Q9NS39 VAR_048726 p.Ala626Thr Polymorphism rs2271275 -
ADAT1 Q9BUB4 VAR_032340 p.His167Asn Polymorphism rs3743598 -
ADAT1 Q9BUB4 VAR_032341 p.Thr203Asn Polymorphism rs3743599 -
ADAT1 Q9BUB4 VAR_055649 p.Thr242Pro Polymorphism rs3743600 -
ADAT1 Q9BUB4 VAR_061098 p.Ile226Val Polymorphism rs56029288 -
ADAT3 Q96EY9 VAR_035804 p.Arg332Cys Unclassified - A breast cancer sample
ADC Q96A70 VAR_050611 p.Ala288Ser Polymorphism rs16835244 -
ADCK2 Q7Z695 VAR_029992 p.Ser307Pro Polymorphism rs1140034 -
ADCK2 Q7Z695 VAR_029993 p.Val418Met Polymorphism rs3748092 -
ADCK2 Q7Z695 VAR_029994 p.Pro622Leu Polymorphism rs1046515 -
ADCK2 Q7Z695 VAR_041418 p.Val418Leu Polymorphism - -
ADCK2 Q7Z695 VAR_041419 p.Pro626Leu Polymorphism rs55922126 -
ADCK2 Q7Z695 VAR_060990 p.Ser66Gly Polymorphism rs2968558 -
ADCK3 Q8NI60 VAR_020319 p.His85Gln Polymorphism rs2297411 -
ADCK3 Q8NI60 VAR_044402 p.Arg213Trp Disease - Coenzyme Q10 deficiency (COQ10D) [MIM:607426]
ADCK3 Q8NI60 VAR_044403 p.Gly272Asp Disease - Coenzyme Q10 deficiency (COQ10D) [MIM:607426]
ADCK3 Q8NI60 VAR_044404 p.Gly272Val Disease - Coenzyme Q10 deficiency (COQ10D) [MIM:607426]
ADCK3 Q8NI60 VAR_044405 p.Tyr514Cys Disease - Spinocerebellar ataxia autosomal recessive type 9 (SCAR9) [MIM:612016]
ADCK3 Q8NI60 VAR_044406 p.Gly549Ser Disease - Spinocerebellar ataxia autosomal recessive type 9 (SCAR9) [MIM:612016]
ADCK3 Q8NI60 VAR_044407 p.Glu551Lys Disease - Coenzyme Q10 deficiency (COQ10D) [MIM:607426]
ADCK3 Q8NI60 VAR_045576 p.Ile341Thr Polymorphism rs55798516 -
ADCK4 Q96D53 VAR_029995 p.His174Arg Polymorphism rs3865452 -
ADCK4 Q96D53 VAR_041420 p.Arg78Cys Polymorphism rs11538384 -
ADCK4 Q96D53 VAR_041421 p.Thr318Met Polymorphism rs55899516 -
ADCK4 Q96D53 VAR_041422 p.Thr352Arg Polymorphism rs36012476 -
ADCK4 Q96D53 VAR_041423 p.Thr462Met Polymorphism rs56083906 -
ADCK5 Q3MIX3 VAR_029996 p.Arg17Ser Polymorphism rs6599528 -
ADCY1 Q08828 VAR_029186 p.Pro456Leu Polymorphism rs12721473 -
ADCY1 Q08828 VAR_029187 p.Ala940Thr Polymorphism rs45444695 -
ADCY1 Q08828 VAR_048246 p.Val984Met Polymorphism rs2293106 -
ADCY10 Q96PN6 VAR_038476 p.Thr234Met Polymorphism rs16859886 -
ADCY10 Q96PN6 VAR_038477 p.Ile697Val Polymorphism rs2071921 -
ADCY2 Q08462 VAR_029012 p.Val147Leu Polymorphism rs13166360 -
ADCY2 Q08462 VAR_048247 p.Val163Ile Polymorphism rs34043481 -
ADCY3 O60266 VAR_048248 p.Ser107Pro Polymorphism rs11676272 -
ADCY6 O43306 VAR_048249 p.Ala674Ser Polymorphism rs3730071 -
ADCY8 P40145 VAR_029188 p.Ala80Thr Polymorphism rs2228949 -
ADCY8 P40145 VAR_036328 p.Phe881Leu Unclassified - A colorectal cancer sample
ADCY9 O60503 VAR_023750 p.Ile772Met Polymorphism rs2230739 -
ADCYAP1 P18509 VAR_014597 p.Asp54Gly Polymorphism rs2856966 -
ADD1 P35611 VAR_014184 p.Gly460Trp Polymorphism rs4961 -
ADD1 P35611 VAR_014185 p.Ser586Cys Polymorphism rs4963 -
ADD1 P35611 VAR_014863 p.Tyr270Asn Polymorphism rs4971 -
ADD1 P35611 VAR_014864 p.Glu376Asp Polymorphism rs4972 -
ADD1 P35611 VAR_014865 p.Asn510Ile Polymorphism rs4962 -
ADD1 P35611 VAR_022108 p.Arg6Cys Polymorphism rs2295497 -
ADD2 P35612 VAR_014866 p.Asp28Asn Polymorphism rs4986 -
ADD2 P35612 VAR_014867 p.Glu335Asp Polymorphism rs4982 -
ADD2 P35612 VAR_014868 p.Ser663Arg Polymorphism rs4985 -
ADD2 P35612 VAR_025318 p.Thr439Ala Polymorphism rs17855969 -
ADD2 P35612 VAR_048195 p.Ser98Cys Polymorphism rs4987 -
ADH1B P00325 VAR_000426 p.Arg48His Polymorphism rs1229984 -
ADH1B P00325 VAR_000427 p.Arg370Cys Polymorphism rs2066702 -
ADH1B P00325 VAR_019322 p.Asn57Lys Polymorphism rs1041969 -
ADH1B P00325 VAR_019323 p.Thr60Ser Polymorphism rs6413413 -
ADH1C P00326 VAR_000428 p.Arg272Gln Polymorphism rs1693482 -
ADH1C P00326 VAR_000429 p.Ile350Val Polymorphism rs698 -
ADH1C P00326 VAR_023992 p.Arg48His Polymorphism rs35385902 -
ADH1C P00326 VAR_023993 p.Pro166Ser Polymorphism - -
ADH1C P00326 VAR_023994 p.Pro352Thr Polymorphism rs35719513 -
ADH4 P08319 VAR_023461 p.Ile309Val Polymorphism rs1126671 -
ADH4 P08319 VAR_023462 p.Arg318His Polymorphism rs29001219 -
ADH4 P08319 VAR_023463 p.Val374Ile Polymorphism rs1126673 -
ADH5 P11766 VAR_025823 p.Leu163Ser Polymorphism rs28730623 -
ADH5 P11766 VAR_025824 p.Val309Ile Polymorphism rs28730628 -
ADH5 P11766 VAR_048199 p.Asp353Glu Polymorphism rs16996593 -
ADH6 P28332 VAR_022655 p.Cys102Gly Polymorphism rs28720152 -
ADH6 P28332 VAR_022656 p.Ile114Val Polymorphism rs28720153 -
ADH6 P28332 VAR_048198 p.Thr151Pro Polymorphism rs34582580 -
ADH7 P40394 VAR_024364 p.Gly92Ala Polymorphism rs1573496 -
ADHFE1 Q8IWW8 VAR_039470 p.Asp242Val Unclassified - A breast cancer sample
ADHFE1 Q8IWW8 VAR_054015 p.Cys449Arg Polymorphism rs1060242 -
ADIPOQ Q15848 VAR_013273 p.Gly84Arg Unclassified - -
ADIPOQ Q15848 VAR_013274 p.Arg112Cys Disease - Adiponectin deficiency (ADPND) [MIM:612556]
ADIPOQ Q15848 VAR_013275 p.Val117Met Polymorphism - -
ADIPOQ Q15848 VAR_013276 p.Ile164Thr Unclassified - -
ADIPOQ Q15848 VAR_013277 p.Arg221Ser Polymorphism - -
ADIPOQ Q15848 VAR_013278 p.His241Pro Polymorphism - -
ADIPOQ Q15848 VAR_027395 p.Gly90Ser Unclassified - -
ADIPOQ Q15848 VAR_027396 p.Tyr111His Polymorphism rs17366743 -
ADIPOR2 Q86V24 VAR_048203 p.Gln39Arg Polymorphism rs12298275 -
ADK P55263 VAR_066640 p.Gly30Glu Disease - Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
ADK P55263 VAR_066641 p.Asp235Ala Disease - Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
ADK P55263 VAR_066642 p.Ala318Glu Disease - Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
ADM P35318 VAR_014861 p.Ser50Arg Polymorphism rs5005 -
ADM P35318 VAR_048205 p.Pro85Arg Polymorphism rs2228573 -
ADO Q96SZ5 VAR_025333 p.Gly25Trp Polymorphism rs2236295 -
ADO Q96SZ5 VAR_025334 p.Pro39Ala Polymorphism rs10995311 -
ADO Q96SZ5 VAR_033691 p.Pro266Ser Polymorphism rs569705 -
ADORA1 P30542 VAR_035754 p.Glu170Lys Unclassified - A colorectal cancer sample
ADORA1 P30542 VAR_044138 p.Ala43Ser Polymorphism rs11547175 -
ADORA1 P30542 VAR_044139 p.Ser50Pro Polymorphism rs11547174 -
ADORA1 P30542 VAR_044140 p.Arg105His Polymorphism rs11547176 -
ADORA1 P30542 VAR_044141 p.Pro261Gln Polymorphism rs17852405 -
ADORA2A P29274 VAR_003451 p.Gly392Arg Polymorphism - -
ADORA2A P29274 VAR_011835 p.Ala50Val Polymorphism rs4530 -
ADORA2A P29274 VAR_011836 p.Arg300His Polymorphism rs4990 -
ADORA3 P33765 VAR_035755 p.Ala105Thr Unclassified - A colorectal cancer sample
ADORA3 P33765 VAR_049366 p.Ile248Leu Polymorphism rs35511654 -
ADORA3 P33765 VAR_049367 p.Met266Lys Polymorphism rs2800889 -
ADPGK Q9BRR6 VAR_060085 p.Lys184Arg Polymorphism rs8024644 -
ADPRHL1 Q8NDY3 VAR_048890 p.Ala7Val Polymorphism rs9577273 -
ADPRHL2 Q9NX46 VAR_030579 p.Glu209Lys Polymorphism rs2236387 -
ADRA1A P35348 VAR_019509 p.Cys347Arg Polymorphism rs1048101 -
ADRA1A P35348 VAR_035756 p.Gly40Trp Unclassified - A breast cancer sample
ADRA1A P35348 VAR_049370 p.Ile200Ser Polymorphism rs2229125 -
ADRA1A P35348 VAR_049371 p.Lys414Arg Polymorphism rs3730247 -
ADRA1A P35348 VAR_049372 p.Glu465Asp Polymorphism rs2229126 -
ADRA1B P35368 VAR_019510 p.Val51Gly Polymorphism rs8192448 -
ADRA2A P08913 VAR_014957 p.Asn251Lys Polymorphism rs1800035 -
ADRA2A P08913 VAR_055908 p.Cys401Ser Polymorphism rs35658213 -
ADRA2B P18089 VAR_025099 p.Gly211Ala Polymorphism rs9333568 -
ADRA2B P18089 VAR_025100 p.Val379Gly Polymorphism - -
ADRA2B P18089 VAR_033462 p.Val376Ile Polymorphism rs29000569 -
ADRA2B P18089 VAR_033463 p.Val379Ile Polymorphism rs29000569 -
ADRB1 P08588 VAR_009879 p.Ser49Gly Polymorphism rs1801252 -
ADRB1 P08588 VAR_009880 p.Arg389Gly Polymorphism rs1801253 -
ADRB1 P08588 VAR_018742 p.Arg389Leu Polymorphism - -
ADRB1 P08588 VAR_055909 p.Ala26Val Polymorphism rs34844626 -
ADRB1 P08588 VAR_055910 p.Ala29Thr Polymorphism rs35720093 -
ADRB1 P08588 VAR_055911 p.Arg31Gln Polymorphism rs35230616 -
ADRB1 P08588 VAR_055912 p.Arg399His Polymorphism rs36052953 -
ADRB1 P08588 VAR_055913 p.His405Tyr Polymorphism rs35705839 -
ADRB2 P07550 VAR_003452 p.Gly16Arg Polymorphism rs1042713 -
ADRB2 P07550 VAR_003453 p.Glu27Gln Polymorphism rs1042714 -
ADRB2 P07550 VAR_003454 p.Val34Met Polymorphism - -
ADRB2 P07550 VAR_003455 p.Thr164Ile Polymorphism rs1800888 -
ADRB2 P07550 VAR_009124 p.Ile159Leu Polymorphism - -
ADRB2 P07550 VAR_009125 p.Ile159Phe Polymorphism - -
ADRB2 P07550 VAR_009394 p.Lys375Arg Polymorphism - -
ADRB2 P07550 VAR_025101 p.Ser220Cys Polymorphism rs3729943 -
ADRB2 P07550 VAR_049373 p.Asn15Ser Polymorphism rs33973603 -
ADRB3 P13945 VAR_003456 p.Trp64Arg Polymorphism rs4994 -
ADRB3 P13945 VAR_014166 p.Thr265Met Polymorphism rs4995 -
ADRB3 P13945 VAR_025102 p.Arg353Cys Polymorphism rs36031925 -
ADRB3 P13945 VAR_029205 p.Glu249Lys Polymorphism rs28364012 -
ADRBK1 P25098 VAR_040378 p.Ile184Thr Polymorphism rs55696045 -
ADRBK1 P25098 VAR_040379 p.Arg578Gln Unclassified - A colorectal adenocarcinoma sample
ADRBK2 P35626 VAR_028005 p.Val409Met Polymorphism rs2272859 -
ADRBK2 P35626 VAR_040380 p.Arg50Ser Polymorphism rs55700971 -
ADRBK2 P35626 VAR_040381 p.Asn60Ser Polymorphism rs55740593 -
ADRBK2 P35626 VAR_040382 p.Arg104Lys Unclassified - A lung bronchoalveolar carcinoma sample
ADSL P30566 VAR_000680 p.Ser438Pro Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_007972 p.Ile72Val Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_007973 p.Arg141Trp Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_007974 p.Arg190Gln Disease rs28941471 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_007975 p.Lys246Glu Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_007976 p.Arg303Cys Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_007977 p.Ser395Arg Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_007978 p.Arg426His Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_016930 p.Ala2Val Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_016931 p.Met26Leu Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_016932 p.Thr450Ser Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017078 p.Ala3Val Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017079 p.Pro100Ala Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017080 p.Tyr114His Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017081 p.Arg194Cys Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017082 p.Asp268Asn Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017083 p.Leu311Val Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017084 p.Pro318Leu Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017085 p.Val364Met Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017086 p.Arg374Trp Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017087 p.Arg396Cys Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017088 p.Arg396His Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017089 p.Asp422Tyr Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017090 p.Leu423Val Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017091 p.Asp430Asn Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017092 p.Ser447Pro Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_017093 p.Arg452Pro Disease - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL P30566 VAR_037883 p.Ser31Asn Polymorphism rs5757921 -
ADSL P30566 VAR_037884 p.Lys147Met Polymorphism rs11089991 -
ADSS P30520 VAR_051881 p.Leu179Phe Polymorphism rs12134870 -
ADTRP Q96IZ2 VAR_024365 p.Val202Ile Polymorphism rs2076185 -
AEBP1 Q8IUX7 VAR_043118 p.Pro273Thr Polymorphism rs2537188 -
AEBP1 Q8IUX7 VAR_043119 p.Asp648Glu Polymorphism rs11770649 -
AEBP1 Q8IUX7 VAR_043120 p.Pro1001Leu Polymorphism rs4724285 -
AEBP1 Q8IUX7 VAR_043121 p.Lys1133Glu Polymorphism rs13928 -
AEBP1 Q8IUX7 VAR_043122 p.Val1148Ile Polymorphism rs13898 -
AEN Q8WTP8 VAR_039651 p.Pro15Leu Polymorphism rs3743477 -
AEN Q8WTP8 VAR_039652 p.Ser88Cys Polymorphism rs8026929 -
AEN Q8WTP8 VAR_039653 p.Asn140Asp Polymorphism rs8027765 -
AES Q08117 VAR_011958 p.Ala168Glu Polymorphism rs1802578 -
AFAF Q9NQ60 VAR_032136 p.Asn101Asp Polymorphism rs12337286 -
AFAF Q9NQ60 VAR_032137 p.Thr274Lys Polymorphism rs41305329 -
AFAF Q9NQ60 VAR_056727 p.Ile110Thr Polymorphism rs12341576 -
AFAP1 Q8N556 VAR_038578 p.Ser403Cys Polymorphism rs28406288 -
AFAP1 Q8N556 VAR_038579 p.Val518Met Polymorphism rs41264705 -
AFAP1L2 Q8N4X5 VAR_050505 p.Gly138Arg Polymorphism rs11196689 -
AFAP1L2 Q8N4X5 VAR_050506 p.Ser366Arg Polymorphism rs7075067 -
AFAP1L2 Q8N4X5 VAR_050507 p.Thr522Ser Polymorphism rs2781806 -
AFAP1L2 Q8N4X5 VAR_054214 p.Glu726Lys Polymorphism rs11599051 -
AFF1 P51825 VAR_020370 p.Pro209Ala Polymorphism rs3733378 -
AFF1 P51825 VAR_036130 p.Gln1204Lys Unclassified - A breast cancer sample
AFF2 P51816 VAR_028217 p.Leu1185Met Polymorphism rs12858959 -
AFF3 P51826 VAR_030805 p.Ser358Asn Polymorphism rs4851223 -
AFF3 P51826 VAR_030806 p.Asn494Ser Polymorphism rs1047265 -
AFF4 Q9UHB7 VAR_053003 p.Thr136Pro Polymorphism rs34527550 -
AFF4 Q9UHB7 VAR_064693 p.Ser757Thr Unclassified - -
AFG3L2 Q9Y4W6 VAR_063544 p.Asn432Thr Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_063545 p.Glu691Lys Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_063546 p.Ala694Glu Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_063547 p.Arg702Gln Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064402 p.Thr654Ile Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064403 p.Met666Arg Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064404 p.Met666Thr Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064405 p.Met666Val Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064406 p.Gly671Glu Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064407 p.Gly671Arg Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064408 p.Glu700Lys Disease - Spinocerebellar ataxia type 28 (SCA28) [MIM:610246]
AFM P43652 VAR_048218 p.Thr404Ser Polymorphism rs2276444 -
AFM P43652 VAR_061003 p.Arg395His Polymorphism rs41265665 -
AFP P02771 VAR_012049 p.Ala570Gly Polymorphism rs7790 -
AFP P02771 VAR_033928 p.Lys187Gln Polymorphism rs35765619 -
AFTPH Q6ULP2 VAR_056728 p.Asp233Gly Polymorphism rs35986567 -
AFTPH Q6ULP2 VAR_056729 p.Glu301Lys Polymorphism rs3770740 -
AFTPH Q6ULP2 VAR_056730 p.Asn550Ser Polymorphism rs3770739 -
AGA P20933 VAR_005069 p.Gly60Asp Disease - Aspartylglucosaminuria (AGU) [MIM:208400]
AGA P20933 VAR_005070 p.Ser72Pro Disease - Aspartylglucosaminuria (AGU) [MIM:208400]
AGA P20933 VAR_005071 p.Ala101Val Disease - Aspartylglucosaminuria (AGU) [MIM:208400]
AGA P20933 VAR_005072 p.Arg161Gln Disease - Aspartylglucosaminuria (AGU) [MIM:208400]
AGA P20933 VAR_005073 p.Cys163Ser Disease - Aspartylglucosaminuria (AGU) [MIM:208400]
AGA P20933 VAR_005074 p.Gly302Arg Disease - Aspartylglucosaminuria (AGU) [MIM:208400]
AGA P20933 VAR_005075 p.Cys306Arg Disease - Aspartylglucosaminuria (AGU) [MIM:208400]
AGA P20933 VAR_015427 p.Val12Leu Disease - Aspartylglucosaminuria (AGU) [MIM:208400]
AGA P20933 VAR_015428 p.Gly100Glu Disease - Aspartylglucosaminuria (AGU) [MIM:208400]
AGA P20933 VAR_015429 p.Phe135Ser Disease - Aspartylglucosaminuria (AGU) [MIM:208400]
AGA P20933 VAR_015430 p.Gly252Glu Disease - Aspartylglucosaminuria (AGU) [MIM:208400]
AGA P20933 VAR_015431 p.Gly252Arg Disease - Aspartylglucosaminuria (AGU) [MIM:208400]
AGA P20933 VAR_015432 p.Thr257Ile Disease - Aspartylglucosaminuria (AGU) [MIM:208400]
AGA P20933 VAR_033533 p.Thr149Ser Polymorphism rs2228119 -
AGA P20933 VAR_061026 p.Thr322Ile Polymorphism rs56849061 -
AGAP1 Q9UPQ3 VAR_019550 p.Glu829Lys Polymorphism rs15718 -
AGAP1 Q9UPQ3 VAR_026446 p.Ser82Gly Unclassified - -
AGAP1 Q9UPQ3 VAR_026447 p.Asp148Gly Polymorphism rs17855721 -
AGAP1 Q9UPQ3 VAR_026448 p.Val671Ile Polymorphism rs2034648 -
AGAP1 Q9UPQ3 VAR_026449 p.Arg798Gly Unclassified - -
AGAP1 Q9UPQ3 VAR_026450 p.Pro854Thr Unclassified - -
AGAP1 Q9UPQ3 VAR_048331 p.Pro522Leu Polymorphism rs17840725 -
AGAP11 Q8TF27 VAR_042518 p.Ile82Val Polymorphism rs2641563 -
AGAP2 Q99490 VAR_022046 p.Gly507Ser Polymorphism rs2301553 -
AGAP2 Q99490 VAR_026438 p.Val455Ala Unclassified - A glioblastoma cell line
AGAP2 Q99490 VAR_026439 p.Arg518Gly Unclassified - A sarcoma cell line
AGAP2 Q99490 VAR_026440 p.Thr568Ile Unclassified - -
AGAP2 Q99490 VAR_026441 p.Ala651Val Unclassified - A glioblastoma cell line
AGAP2 Q99490 VAR_026442 p.Glu767Val Unclassified - A glioblastoma cell line
AGAP2 Q99490 VAR_026443 p.Asn939Asp Unclassified - A glioblastoma cell line
AGAP2 Q99490 VAR_026444 p.Val947Met Unclassified - A sarcoma cell line
AGAP2 Q99490 VAR_026445 p.Ser1022Pro Unclassified - A glioblastoma cell line
AGAP2 Q99490 VAR_036183 p.Thr339Ala Unclassified - A breast cancer sample
AGAP2 Q99490 VAR_036184 p.Asp816Tyr Unclassified - A breast cancer sample
AGAP2 Q99490 VAR_055532 p.Gly1124Val Polymorphism rs238521 -
AGAP4 Q96P64 VAR_031804 p.Lys661Glu Polymorphism rs15718 -
AGAP8 Q5SRD3 VAR_064767 p.Gln567His Polymorphism - -
AGBL1 Q96MI9 VAR_048604 p.Pro417Leu Polymorphism rs8029810 -
AGBL1 Q96MI9 VAR_048605 p.Ser435Pro Polymorphism rs11857527 -
AGBL1 Q96MI9 VAR_059195 p.Gln1010Arg Polymorphism rs8028043 -
AGBL2 Q5U5Z8 VAR_031572 p.Arg349His Polymorphism rs7941404 -
AGBL2 Q5U5Z8 VAR_046637 p.Ile90Arg Polymorphism rs12795414 -
AGBL2 Q5U5Z8 VAR_046638 p.Thr333Pro Polymorphism rs35898124 -
AGBL2 Q5U5Z8 VAR_046639 p.Asp368Gly Polymorphism rs1870545 -
AGBL2 Q5U5Z8 VAR_046640 p.Met671Ile Polymorphism rs12286721 -
AGBL3 Q8NEM8 VAR_031573 p.Phe45Tyr Polymorphism rs2348049 -
AGBL3 Q8NEM8 VAR_031574 p.Glu122Gln Polymorphism rs4236655 -
AGBL3 Q8NEM8 VAR_031575 p.Thr360Ile Polymorphism rs17804854 -
AGBL4 Q5VU57 VAR_061078 p.Val443Met Polymorphism rs60977321 -
AGBL5 Q8NDL9 VAR_035231 p.Gly649Asp Polymorphism rs35804461 -
AGER Q15109 VAR_011338 p.Gln100Arg Polymorphism - -
AGER Q15109 VAR_024500 p.Gly82Ser Polymorphism rs2070600 -
AGFG2 O95081 VAR_050566 p.Thr365Asn Polymorphism rs34731997 -
AGGF1 Q8N302 VAR_017901 p.Glu133Lys Disease rs34203073 Klippel-Trenaunay syndrome (KTS) [MIM:149000]
AGGF1 Q8N302 VAR_017902 p.Pro698Thr Polymorphism rs34400049 -
AGGF1 Q8N302 VAR_037446 p.Thr180Ala Polymorphism rs9715897 -
AGGF1 Q8N302 VAR_037447 p.Leu471Pro Polymorphism rs17856835 -
AGK Q53H12 VAR_027848 p.Val3Met Polymorphism rs10262855 -
AGL P35573 VAR_009230 p.Gly1115Arg Polymorphism rs2230307 -
AGL P35573 VAR_009231 p.Gly1448Arg Disease - Glycogen storage disease type 3 (GSD3) [MIM:232400]
AGL P35573 VAR_009621 p.Arg387Gln Polymorphism rs17121464 -
AGL P35573 VAR_009622 p.Glu1343Lys Polymorphism - -
AGL P35573 VAR_020389 p.Pro1067Ser Polymorphism rs3753494 -
AGL P35573 VAR_028051 p.Gln229Arg Polymorphism rs17121403 -
AGL P35573 VAR_028052 p.Ala701Ser Polymorphism rs3736297 -
AGL P35573 VAR_028053 p.Ile1144Asn Polymorphism rs2230308 -
AGL P35573 VAR_028054 p.Arg1253His Polymorphism rs12043139 -
AGL P35573 VAR_028055 p.Arg1487Gly Polymorphism rs12118058 -
AGL P35573 VAR_032084 p.Thr38Ala Polymorphism rs35278779 -
AGL P35573 VAR_032085 p.Ser962Cys Polymorphism rs34714252 -
AGL P35573 VAR_051010 p.Ala1207Thr Polymorphism rs11807956 -
AGMAT Q9BSE5 VAR_023485 p.Gly105Arg Polymorphism rs6429757 -
AGMAT Q9BSE5 VAR_048332 p.Arg140Gln Polymorphism rs11580170 -
AGMO Q6ZNB7 VAR_062201 p.Phe279Leu Polymorphism rs58564185 -
AGMO Q6ZNB7 VAR_062202 p.Ser280Tyr Polymorphism rs59160822 -
AGPAT1 Q99943 VAR_050593 p.Pro30Ser Polymorphism rs11964847 -
AGPAT2 O15120 VAR_017325 p.Ala239Val Disease - Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]
AGPAT2 O15120 VAR_017327 p.Leu228Pro Disease - Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]
AGPAT2 O15120 VAR_017328 p.Gly136Arg Disease - Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]
AGPAT5 Q9NUQ2 VAR_022696 p.Tyr77Cys Polymorphism rs17077958 -
AGPS O00116 VAR_005002 p.Arg419His Disease - Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
AGPS O00116 VAR_025895 p.Thr309Ile Disease - Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
AGPS O00116 VAR_025896 p.Leu469Pro Disease - Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
AGPS O00116 VAR_066929 p.Arg182Gln Disease - Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
AGPS O00116 VAR_066930 p.Glu471Lys Disease - Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
AGPS O00116 VAR_066931 p.Thr568Met Disease - Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
AGRN O00468 VAR_048966 p.Val1666Ile Polymorphism rs17160775 -
AGRP O00253 VAR_015385 p.Ala67Thr Polymorphism rs5030980 -
AGT P01019 VAR_007093 p.Thr207Met Polymorphism rs4762 -
AGT P01019 VAR_007094 p.Thr242Ile Unclassified - -
AGT P01019 VAR_007095 p.Leu244Arg Polymorphism rs5041 -
AGT P01019 VAR_007096 p.Met268Thr Polymorphism rs699 -
AGT P01019 VAR_007097 p.Tyr281Cys Polymorphism rs56073403 -
AGT P01019 VAR_014573 p.Leu392Met Polymorphism rs1805090 -
AGT P01019 VAR_022933 p.Leu43Phe Polymorphism rs41271499 -
AGT P01019 VAR_029166 p.Glu98Lys Polymorphism rs11568032 -
AGT P01019 VAR_029167 p.Met268Ile Polymorphism rs11568053 -
AGT P01019 VAR_035431 p.Thr137Met Polymorphism rs34829218 -
AGT P01019 VAR_035432 p.Pro335Ser Polymorphism rs17856352 -
AGT P01019 VAR_035433 p.Arg375Gln Disease - Renal tubular dysgenesis (RTD) [MIM:267430]
AGT P01019 VAR_051939 p.Gly114Cys Polymorphism rs2229389 -
AGTPBP1 Q9UPW5 VAR_036884 p.Glu423Lys Unclassified - A colorectal cancer sample
AGTR1 P30556 VAR_011846 p.Leu48Val Polymorphism rs2011425 -
AGTR1 P30556 VAR_011847 p.Cys289Trp Polymorphism rs1064533 -
AGTR1 P30556 VAR_011848 p.Thr336Pro Polymorphism rs1801021 -
AGTR1 P30556 VAR_029206 p.Ala163Thr Polymorphism rs12721226 -
AGTR1 P30556 VAR_029207 p.Ala244Ser Polymorphism rs12721225 -
AGTR1 P30556 VAR_035086 p.Thr282Met Disease - Renal tubular dysgenesis (RTD) [MIM:267430]
AGTR2 P50052 VAR_011849 p.Arg248Lys Polymorphism rs5191 -
AGTR2 P50052 VAR_011850 p.Cys268Trp Polymorphism rs1042860 -
AGTR2 P50052 VAR_049374 p.Tyr231His Polymorphism rs3729977 -
AGTR2 P50052 VAR_065946 p.Gly21Val Disease - Mental retardation X-linked type 88 (MRX88) [MIM:300852]
AGTR2 P50052 VAR_065947 p.Arg324Gln Disease - Mental retardation X-linked type 88 (MRX88) [MIM:300852]
AGTR2 P50052 VAR_065948 p.Ile337Val Disease - Mental retardation X-linked type 88 (MRX88) [MIM:300852]
AGTRAP Q6RW13 VAR_023075 p.Ala143Val Polymorphism rs17875960 -
AGXT P21549 VAR_000587 p.Pro11Leu Polymorphism rs34116584 -
AGXT P21549 VAR_000588 p.Gly41Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_000589 p.Phe152Ile Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_000590 p.Gly170Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_000591 p.Ser187Phe Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_000592 p.Ser205Pro Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_000593 p.Ile340Met Polymorphism rs4426527 -
AGXT P21549 VAR_008878 p.Gly82Glu Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_008879 p.Arg233Cys Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_008880 p.Arg233His Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_008881 p.Ile244Thr Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_010969 p.Gly41Val Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_010971 p.Gly116Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_010972 p.Gly156Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_010973 p.Asp183Asn Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_048236 p.Asn22Ser Polymorphism rs34885252 -
AGXT P21549 VAR_048237 p.Ala295Thr Polymorphism rs13408961 -
AGXT P21549 VAR_060547 p.Thr9Asn Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060548 p.Gly82Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060549 p.Trp108Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060550 p.Ala112Asp Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060552 p.Leu153Val Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060553 p.Ser158Leu Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060554 p.Gly161Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060555 p.Cys173Tyr Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060556 p.Gly190Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060557 p.Met195Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060558 p.Asp201Glu Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060559 p.Ser218Leu Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060560 p.Arg233Leu Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060561 p.Asp243His Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060562 p.Cys253Arg Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060563 p.Ile279Met Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060564 p.Ile279Thr Polymorphism - -
AGXT P21549 VAR_060565 p.Ala280Val Polymorphism - -
AGXT P21549 VAR_060566 p.Ser287Thr Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060567 p.Arg289Cys Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060569 p.Leu298Pro Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060570 p.Val326Ile Polymorphism - -
AGXT P21549 VAR_060571 p.Val336Asp Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060572 p.Gly350Asp Disease - Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT2 Q9BYV1 VAR_022140 p.Val140Ile Polymorphism rs37369 -
AGXT2 Q9BYV1 VAR_022141 p.Thr212Ile Polymorphism rs180749 -
AGXT2 Q9BYV1 VAR_023483 p.Ser102Asn Polymorphism rs37370 -
AGXT2 Q9BYV1 VAR_029513 p.Val498Leu Polymorphism rs16899974 -
AGXT2 Q9BYV1 VAR_048231 p.Gly132Arg Polymorphism rs16870794 -
AGXT2 Q9BYV1 VAR_048232 p.Pro492Arg Polymorphism rs17245714 -
AGXT2 Q9BYV1 VAR_061006 p.Ser102Ile Polymorphism rs37370 -
AGXT2 Q9BYV1 VAR_061007 p.Ser102Thr Polymorphism rs37370 -
AGXT2L1 Q8TBG4 VAR_032342 p.Ser185Pro Polymorphism rs1377210 -
AGXT2L2 Q8IUZ5 VAR_048233 p.His126Arg Polymorphism rs7707147 -
AHCTF1 Q8WYP5 VAR_027037 p.Asn874Ser Polymorphism rs2642990 -
AHCTF1 Q8WYP5 VAR_027038 p.Leu2185Val Polymorphism rs12410563 -
AHCY P23526 VAR_006934 p.Asp86Asn Polymorphism - -
AHCY P23526 VAR_052286 p.Arg38Trp Polymorphism rs13043752 -
AHCY P23526 VAR_058588 p.Arg49Cys Disease - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHCY P23526 VAR_058589 p.Asp86Gly Disease - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHCY P23526 VAR_058590 p.Ala89Val Disease - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHCY P23526 VAR_058591 p.Tyr143Cys Disease - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHDC1 Q5TGY3 VAR_037765 p.Ala935Thr Polymorphism rs4908364 -
AHI1 Q8N157 VAR_023391 p.Val443Asp Disease - Joubert syndrome type 3 (JBTS3) [MIM:608629]
AHI1 Q8N157 VAR_037892 p.Ile49Asn Polymorphism - -
AHI1 Q8N157 VAR_037893 p.Arg548His Polymorphism rs35433555 -
AHI1 Q8N157 VAR_037894 p.Arg723Gln Disease - Joubert syndrome type 3 (JBTS3) [MIM:608629]
AHI1 Q8N157 VAR_037895 p.Ser761Leu Polymorphism - -
AHI1 Q8N157 VAR_037896 p.Arg830Trp Polymorphism rs13312995 -
AHI1 Q8N157 VAR_037897 p.Thr856Ser Polymorphism - -
AHI1 Q8N157 VAR_037898 p.Tyr933Cys Polymorphism rs41288013 -
AHI1 Q8N157 VAR_037899 p.Gln1018Pro Polymorphism rs6940875 -
AHI1 Q8N157 VAR_037900 p.Ser1123Phe Polymorphism - -
AHI1 Q8N157 VAR_037901 p.Pro1140Ser Polymorphism - -
AHNAK Q09666 VAR_039058 p.Gly962Val Polymorphism rs664761 -
AHNAK Q09666 VAR_039059 p.Ala2114Thr Polymorphism rs1298288 -
AHNAK Q09666 VAR_039060 p.Pro2439Leu Polymorphism rs11824660 -
AHNAK Q09666 VAR_039061 p.Gln3003Lys Polymorphism rs566144 -
AHNAK Q09666 VAR_039062 p.Val3190Ile Polymorphism rs11231129 -
AHNAK Q09666 VAR_039063 p.Ser3724Pro Polymorphism rs11231128 -
AHNAK Q09666 VAR_039064 p.Gly4561Asp Polymorphism rs12795508 -
AHNAK Q09666 VAR_039065 p.Met4611Val Polymorphism rs12801302 -
AHNAK Q09666 VAR_039066 p.Ile4613Val Polymorphism rs12801153 -
AHNAK Q09666 VAR_039067 p.Asp4631Gly Polymorphism rs12801123 -
AHNAK Q09666 VAR_039068 p.Thr5415Ala Polymorphism rs11231126 -
AHNAK Q09666 VAR_061551 p.Lys2247Thr Polymorphism rs61524789 -
AHNAK Q09666 VAR_061552 p.Asp4304Gly Polymorphism rs11828907 -
AHNAK2 Q8IVF2 VAR_039069 p.Val1266Met Polymorphism rs11850930 -
AHNAK2 Q8IVF2 VAR_039070 p.Leu1470Val Polymorphism rs12890949 -
AHNAK2 Q8IVF2 VAR_039071 p.Ser2115Arg Polymorphism rs2582514 -
AHNAK2 Q8IVF2 VAR_039072 p.Asp2429Glu Polymorphism rs11160826 -
AHNAK2 Q8IVF2 VAR_039073 p.Leu2430Val Polymorphism rs2819426 -
AHNAK2 Q8IVF2 VAR_039074 p.Val2616Ala Polymorphism rs4264326 -
AHNAK2 Q8IVF2 VAR_039075 p.Leu5028Met Polymorphism rs9672139 -
AHNAK2 Q8IVF2 VAR_039076 p.Gly5564Arg Polymorphism rs2819420 -
AHNAK2 Q8IVF2 VAR_050635 p.Thr525Ala Polymorphism rs2278607 -
AHNAK2 Q8IVF2 VAR_050636 p.Met2107Val Polymorphism rs11846918 -
AHNAK2 Q8IVF2 VAR_050637 p.Lys2410Arg Polymorphism rs11845746 -
AHNAK2 Q8IVF2 VAR_050638 p.Val3796Leu Polymorphism rs12890949 -
AHNAK2 Q8IVF2 VAR_050639 p.Met3961Val Polymorphism rs10141053 -
AHNAK2 Q8IVF2 VAR_050640 p.Ile4071Met Polymorphism rs2582511 -
AHNAK2 Q8IVF2 VAR_050641 p.Phe4138Leu Polymorphism rs2582505 -
AHNAK2 Q8IVF2 VAR_050642 p.Lys4232Asn Polymorphism rs2819423 -
AHNAK2 Q8IVF2 VAR_050643 p.Val4278Ala Polymorphism rs2819422 -
AHNAK2 Q8IVF2 VAR_050644 p.Met4536Leu Polymorphism rs9672139 -
AHNAK2 Q8IVF2 VAR_050645 p.Thr4664Ala Polymorphism rs4465542 -
AHNAK2 Q8IVF2 VAR_050646 p.Gly5072Arg Polymorphism rs2819420 -
AHNAK2 Q8IVF2 VAR_050647 p.Tyr5184Asp Polymorphism rs2819419 -
AHNAK2 Q8IVF2 VAR_050648 p.Pro5397Ala Polymorphism rs3742935 -
AHNAK2 Q8IVF2 VAR_050649 p.Thr5732Met Polymorphism rs748358 -
AHNAK2 Q8IVF2 VAR_059560 p.Glu1856Asp Polymorphism rs2819435 -
AHNAK2 Q8IVF2 VAR_059561 p.Leu2146Val Polymorphism rs12890949 -
AHNAK2 Q8IVF2 VAR_059562 p.Glu2503Ala Polymorphism rs2819429 -
AHNAK2 Q8IVF2 VAR_059563 p.Arg2862Ser Polymorphism rs2582514 -
AHNAK2 Q8IVF2 VAR_059564 p.Asp3176Glu Polymorphism rs11160826 -
AHNAK2 Q8IVF2 VAR_059565 p.Leu3177Val Polymorphism rs2819426 -
AHNAK2 Q8IVF2 VAR_059566 p.Pro3336Leu Polymorphism rs10438247 -
AHNAK2 Q8IVF2 VAR_059567 p.Val3363Ala Polymorphism rs4264326 -
AHNAK2 Q8IVF2 VAR_059568 p.Asp3793Asn Polymorphism rs11160825 -
AHNAK2 Q8IVF2 VAR_059569 p.Met3869Val Polymorphism rs10438246 -
AHNAK2 Q8IVF2 VAR_059570 p.Lys3902Asn Polymorphism rs2819423 -
AHNAK2 Q8IVF2 VAR_059571 p.Ala4085Val Polymorphism rs2013462 -
AHNAK2 Q8IVF2 VAR_059572 p.Asp4198Asn Polymorphism rs11848082 -
AHNAK2 Q8IVF2 VAR_059573 p.Leu4326Pro Polymorphism rs2819421 -
AHNAK2 Q8IVF2 VAR_059574 p.Pro4478Leu Polymorphism rs2582513 -
AHNAK2 Q8IVF2 VAR_061548 p.Met1298Ile Polymorphism rs2819440 -
AHNAK2 Q8IVF2 VAR_061549 p.Gly3654Glu Polymorphism rs28380382 -
AHNAK2 Q8IVF2 VAR_061550 p.Gly5139Glu Polymorphism rs61421370 -
AHR P35869 VAR_009281 p.Arg554Lys Polymorphism rs2066853 -
AHR P35869 VAR_009282 p.Val570Ile Polymorphism rs4986826 -
AHR P35869 VAR_015516 p.Pro517Ser Polymorphism - -
AHR P35869 VAR_015517 p.Met786Val Polymorphism - -
AHRR A9YTQ3 VAR_043308 p.Leu114Pro Polymorphism rs35008248 -
AHRR A9YTQ3 VAR_043309 p.Pro189Ala Polymorphism rs2292596 -
AHRR A9YTQ3 VAR_043310 p.Gly373Val Polymorphism rs2303738 -
AHRR A9YTQ3 VAR_043311 p.Asp627His Polymorphism rs34453673 -
AHSA2 Q719I0 VAR_038256 p.Met248Thr Unclassified - A breast cancer sample
AHSG P02765 VAR_002388 p.Thr248Met Polymorphism rs4917 -
AHSG P02765 VAR_002389 p.Thr256Ser Polymorphism rs4918 -
AHSG P02765 VAR_012474 p.Asp276Asn Polymorphism - -
AHSG P02765 VAR_012475 p.Arg317Cys Polymorphism rs35457250 -
AHSG P02765 VAR_055802 p.Val142Leu Polymorphism rs7633550 -
AHSP Q9NZD4 VAR_050650 p.Pro100Thr Polymorphism rs36018996 -
AICDA Q9GZX7 VAR_013774 p.Arg24Trp Disease - Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]
AICDA Q9GZX7 VAR_013775 p.Trp80Arg Disease - Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]
AICDA Q9GZX7 VAR_013776 p.Leu106Pro Disease - Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]
AICDA Q9GZX7 VAR_013777 p.Met139Val Disease - Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]
AICDA Q9GZX7 VAR_013778 p.Phe151Ser Disease - Immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]
AICDA Q9GZX7 VAR_014091 p.Arg25Cys Polymorphism - -
AIF1 P55008 VAR_048665 p.Gly14Arg Polymorphism rs2736182 -
AIFM2 Q9BRQ8 VAR_050651 p.Met135Thr Polymorphism rs10999147 -
AIFM2 Q9BRQ8 VAR_050652 p.Asp288Asn Polymorphism rs2271694 -
AIFM3 Q96NN9 VAR_061553 p.Ser508Thr Polymorphism rs61356271 -
AIG1 Q9NVV5 VAR_057502 p.Gln151Glu Polymorphism rs1053193 -
AIM1 Q9Y4K1 VAR_055687 p.Gly267Asp Polymorphism rs11968933 -
AIM1 Q9Y4K1 VAR_055688 p.Gln293Pro Polymorphism rs1159148 -
AIM1 Q9Y4K1 VAR_055689 p.Cys491Arg Polymorphism rs3747787 -
AIM1 Q9Y4K1 VAR_055690 p.Leu1096Val Polymorphism rs1350902 -
AIM1 Q9Y4K1 VAR_055691 p.Glu1196Ala Polymorphism rs783396 -
AIM1 Q9Y4K1 VAR_055692 p.Cys1395Tyr Polymorphism rs2297970 -
AIM1 Q9Y4K1 VAR_055693 p.Thr1445Ser Polymorphism rs1676015 -
AIM1L Q8N1P7 VAR_048835 p.Ser249Asn Polymorphism rs10751735 -
AIM2 O14862 VAR_022022 p.Glu32Lys Polymorphism rs2276405 -
AIM2 O14862 VAR_043379 p.Cys304Tyr Polymorphism - -
AIMP1 Q12904 VAR_025212 p.Pro79Ala Polymorphism rs1134648 -
AIMP1 Q12904 VAR_029156 p.Thr104Ala Polymorphism rs2230254 -
AIMP1 Q12904 VAR_050124 p.Thr117Ala Polymorphism rs2230255 -
AIMP2 Q13155 VAR_025521 p.Ala129Gly Polymorphism rs17855441 -
AIMP2 Q13155 VAR_050125 p.Leu166Ile Polymorphism rs34525431 -
AIMP2 Q13155 VAR_058392 p.Ile92Val Unclassified - A lung cancer cell line
AIMP2 Q13155 VAR_058394 p.Gly209Ser Unclassified - A lung cancer cell line
AIP O00170 VAR_043908 p.Arg16His Polymorphism - -
AIP O00170 VAR_043909 p.Gln228Lys Polymorphism rs641081 -
AIP O00170 VAR_043910 p.Lys241Glu Unclassified - -
AIP O00170 VAR_043912 p.Arg271Trp Unclassified - -
AIP O00170 VAR_043913 p.Arg304Gln Unclassified - -
AIP O00170 VAR_061545 p.Gln307Arg Polymorphism rs4930199 -
AIPL1 Q9NZN9 VAR_010139 p.Cys239Arg Disease - Leber congenital amaurosis type 4 (LCA4) [MIM:604393]
AIPL1 Q9NZN9 VAR_010140 p.Asp90His Polymorphism rs12449580 -
AIPL1 Q9NZN9 VAR_050626 p.Val33Ala Polymorphism rs16955859 -
AIPL1 Q9NZN9 VAR_050627 p.Tyr134Phe Polymorphism rs16955851 -
AIRE O43918 VAR_005004 p.Leu28Pro Disease rs179363878 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_005005 p.Lys83Glu Disease - Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_005006 p.Ser278Arg Polymorphism rs1800520 -
AIRE O43918 VAR_013713 p.Arg15Leu Disease rs179363876 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_013714 p.Thr16Met Disease rs179363877 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_013715 p.Leu29Pro Disease rs179363879 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_013716 p.Trp78Arg Disease rs179363880 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_013717 p.Val80Leu Disease rs179363881 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_013718 p.Tyr85Cys Disease rs179363882 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_013719 p.Tyr90Cys Disease rs179363883 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_013720 p.Leu93Arg Disease rs179363884 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_013721 p.Val301Met Disease - Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_013722 p.Gly305Ser Polymorphism - -
AIRE O43918 VAR_013723 p.Cys311Tyr Disease - Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_013724 p.Pro326Gln Disease rs179363885 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_014422 p.Gly228Trp Disease - Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_026480 p.Arg15Cys Disease rs179363875 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_026481 p.Ala21Val Disease rs179363886 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_026483 p.Phe77Ser Disease rs179363887 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_026484 p.Pro252Leu Disease rs34397615 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_026485 p.Pro326Leu Disease rs179363888 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE O43918 VAR_026486 p.Pro539Leu Disease rs179363889 Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AJAP1 Q9UKB5 VAR_031821 p.Gly263Arg Polymorphism rs242056 -
AK1 P00568 VAR_004021 p.Arg128Trp Disease rs28930974 Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK1 P00568 VAR_034046 p.Glu123Gln Polymorphism rs8192462 -
AK1 P00568 VAR_055337 p.Gly40Arg Disease - Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK1 P00568 VAR_055338 p.Gly64Arg Disease - Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK1 P00568 VAR_055340 p.Tyr164Cys Disease - Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK2 P54819 VAR_050032 p.Ala209Thr Polymorphism rs12116440 -
AK2 P54819 VAR_054630 p.Arg103Trp Disease - Reticular dysgenesis (RDYS) [MIM:267500]
AK2 P54819 VAR_054631 p.Asp165Gly Disease - Reticular dysgenesis (RDYS) [MIM:267500]
AK5 Q9Y6K8 VAR_059435 p.Arg465Gln Polymorphism rs2803140 -
AK7 Q96M32 VAR_017059 p.Arg102Gln Polymorphism rs2275554 -
AK7 Q96M32 VAR_057950 p.Asn389Lys Polymorphism rs2369679 -
AK8 Q96MA6 VAR_030873 p.Ile5Thr Polymorphism rs2231400 -
AK8 Q96MA6 VAR_030874 p.Asp130Gly Polymorphism rs17407084 -
AKAP1 Q92667 VAR_024512 p.Val60Met Polymorphism rs2230770 -
AKAP1 Q92667 VAR_049676 p.Ala18Val Polymorphism rs17761023 -
AKAP1 Q92667 VAR_049677 p.Cys102Tyr Polymorphism rs2230771 -
AKAP1 Q92667 VAR_049678 p.Arg124Cys Polymorphism rs17833723 -
AKAP10 O43572 VAR_024607 p.Arg249His Polymorphism rs2108978 -
AKAP10 O43572 VAR_024608 p.Ile646Val Polymorphism rs203462 -
AKAP11 Q9UKA4 VAR_020131 p.Ser721Cys Polymorphism rs2236364 -
AKAP11 Q9UKA4 VAR_048207 p.His1070Arg Polymorphism rs17063163 -
AKAP11 Q9UKA4 VAR_048208 p.Leu1410Phe Polymorphism rs17063167 -
AKAP12 Q02952 VAR_035115 p.Lys117Glu Polymorphism rs10872670 -
AKAP12 Q02952 VAR_035116 p.Lys216Gln Polymorphism rs3734799 -
AKAP12 Q02952 VAR_035117 p.Glu920Gly Polymorphism rs13212161 -
AKAP12 Q02952 VAR_035118 p.Val1096Ile Polymorphism rs3734797 -
AKAP12 Q02952 VAR_035119 p.Arg1296Leu Polymorphism rs9478198 -
AKAP12 Q02952 VAR_035120 p.Glu1355Lys Polymorphism rs12201388 -
AKAP12 Q02952 VAR_035121 p.Glu1600Asp Polymorphism rs3823310 -
AKAP12 Q02952 VAR_035122 p.Glu1689Asp Polymorphism rs3734795 -
AKAP12 Q02952 VAR_035780 p.Glu240Lys Unclassified - A colorectal cancer sample
AKAP12 Q02952 VAR_056731 p.Ala987Ser Polymorphism rs1042069 -
AKAP13 Q12802 VAR_030925 p.Met452Thr Polymorphism rs2061821 -
AKAP13 Q12802 VAR_030926 p.Trp494Arg Polymorphism rs2061822 -
AKAP13 Q12802 VAR_030927 p.Arg574Cys Polymorphism rs2061824 -
AKAP13 Q12802 VAR_030928 p.Gly624Val Polymorphism rs745191 -
AKAP13 Q12802 VAR_030929 p.Glu689Lys Polymorphism rs7177107 -
AKAP13 Q12802 VAR_030930 p.Val845Ala Polymorphism rs4075256 -
AKAP13 Q12802 VAR_030931 p.Val897Met Polymorphism rs4075254 -
AKAP13 Q12802 VAR_030932 p.Pro1062Ala Polymorphism rs4843074 -
AKAP13 Q12802 VAR_030933 p.Asp1086Asn Polymorphism rs4843075 -
AKAP13 Q12802 VAR_030934 p.Met1216Thr Polymorphism rs7162168 -
AKAP13 Q12802 VAR_030935 p.Gly2457Ser Polymorphism rs2241268 -
AKAP13 Q12802 VAR_030936 p.Ala2801Thr Polymorphism rs2614668 -
AKAP13 Q12802 VAR_051986 p.Lys526Gln Polymorphism rs34434221 -
AKAP13 Q12802 VAR_051987 p.Ser1525Gly Polymorphism rs35079107 -
AKAP17A Q02040 VAR_055353 p.Pro194Ser Polymorphism rs17852504 -
AKAP2 Q9Y2D5 VAR_024248 p.Leu561Ser Polymorphism rs914358 -
AKAP3 O75969 VAR_036428 p.Arg831Cys Unclassified - A colorectal cancer sample
AKAP3 O75969 VAR_055488 p.Gly118Glu Polymorphism rs2072355 -
AKAP3 O75969 VAR_055489 p.Ile500Thr Polymorphism rs12366671 -
AKAP3 O75969 VAR_055490 p.Ile661Thr Polymorphism rs1990313 -
AKAP3 O75969 VAR_055491 p.Ser700Phe Polymorphism rs2041291 -
AKAP3 O75969 VAR_055492 p.Ser725Leu Polymorphism rs2072357 -
AKAP3 O75969 VAR_059112 p.Ser700Pro Polymorphism rs2041290 -
AKAP3 O75969 VAR_060730 p.Thr464Ser Polymorphism rs11063266 -
AKAP3 O75969 VAR_061000 p.Glu525Lys Polymorphism rs1990312 -
AKAP4 Q5JQC9 VAR_027266 p.Ala673Gly Polymorphism rs12012704 -
AKAP4 Q5JQC9 VAR_048206 p.His233Arg Polymorphism rs17174078 -
AKAP5 P24588 VAR_056732 p.Pro100Leu Polymorphism rs2230491 -
AKAP5 P24588 VAR_056733 p.Glu314Lys Polymorphism rs34433837 -
AKAP5 P24588 VAR_060735 p.Thr203Ile Polymorphism rs1256149 -
AKAP6 Q13023 VAR_028171 p.Ala337Val Polymorphism rs3742926 -
AKAP6 Q13023 VAR_028172 p.Asn408Ser Polymorphism rs17099240 -
AKAP6 Q13023 VAR_028173 p.Ala1492Val Polymorphism rs11845640 -
AKAP6 Q13023 VAR_028174 p.Asn2035Asp Polymorphism rs1051695 -
AKAP6 Q13023 VAR_028175 p.Phe2171Tyr Polymorphism rs4647899 -
AKAP6 Q13023 VAR_028176 p.Asp2209His Polymorphism rs4402458 -
AKAP6 Q13023 VAR_035781 p.Lys910Met Unclassified - A breast cancer sample
AKAP6 Q13023 VAR_035782 p.Met1192Ile Unclassified - A breast cancer sample
AKAP6 Q13023 VAR_035783 p.Glu1702Gln Unclassified - A breast cancer sample
AKAP6 Q13023 VAR_035784 p.Pro1839Thr Unclassified - A colorectal cancer sample
AKAP6 Q13023 VAR_050653 p.Asn558Asp Polymorphism rs35210906 -
AKAP6 Q13023 VAR_050654 p.Glu892Lys Polymorphism rs34572259 -
AKAP6 Q13023 VAR_050655 p.Thr1516Ala Polymorphism rs17099587 -
AKAP6 Q13023 VAR_050656 p.Val1522Ile Polymorphism rs34711402 -
AKAP6 Q13023 VAR_050657 p.Glu2267Asp Polymorphism rs35977369 -
AKAP7 Q9P0M2 VAR_024246 p.Glu26Lys Polymorphism rs7771473 -
AKAP7 Q9P0M2 VAR_024247 p.Ser215Asn Polymorphism rs1190788 -
AKAP8 O43823 VAR_036534 p.Gln664His Unclassified - A breast cancer sample
AKAP9 Q99996 VAR_024249 p.Met475Ile Polymorphism rs6964587 -
AKAP9 Q99996 VAR_030162 p.Asn2804Ser Polymorphism rs6960867 -
AKAP9 Q99996 VAR_030163 p.Pro2983Ser Polymorphism rs1063242 -
AKAP9 Q99996 VAR_035785 p.Met2421Ile Unclassified - A colorectal cancer sample
AKAP9 Q99996 VAR_035786 p.Glu3301Gln Unclassified - A breast cancer sample
AKAP9 Q99996 VAR_043489 p.Ser1582Leu Disease - Long QT syndrome type 11 (LQT11) [MIM:611820]
AKAP9 Q99996 VAR_043490 p.Lys2496Arg Polymorphism rs35759833 -
AKAP9 Q99996 VAR_043491 p.Gln3448Arg Polymorphism rs34956633 -
AKAP9 Q99996 VAR_043492 p.Met3618Val Polymorphism rs34327395 -
AKIP1 Q9NQ31 VAR_021565 p.Arg23Lys Polymorphism rs1133833 -
AKIP1 Q9NQ31 VAR_050688 p.Ile132Thr Polymorphism rs35131475 -
AKNA Q7Z591 VAR_032586 p.Pro624Leu Polymorphism rs3748176 -
AKNA Q7Z591 VAR_032587 p.Gln1097Arg Polymorphism rs1265891 -
AKNA Q7Z591 VAR_032588 p.Arg1119Gln Polymorphism rs3748178 -
AKNA Q7Z591 VAR_032589 p.Ser1303Pro Polymorphism rs2250242 -
AKNA Q7Z591 VAR_032590 p.Tyr1327Cys Polymorphism rs2787344 -
AKNAD1 Q5T1N1 VAR_044198 p.Ser61Asn Polymorphism rs1277207 -
AKNAD1 Q5T1N1 VAR_044199 p.Ala104Val Polymorphism rs17621411 -
AKNAD1 Q5T1N1 VAR_044200 p.Glu167Gly Polymorphism rs17852793 -
AKNAD1 Q5T1N1 VAR_044201 p.His255Tyr Polymorphism rs9440631 -
AKNAD1 Q5T1N1 VAR_044202 p.Leu352Val Polymorphism rs11580913 -
AKNAD1 Q5T1N1 VAR_044203 p.Asn616Lys Polymorphism rs7551421 -
AKNAD1 Q5T1N1 VAR_044204 p.Cys654Tyr Polymorphism rs7522157 -
AKNAD1 Q5T1N1 VAR_061565 p.Gly582Val Polymorphism rs12060255 -
AKR1A1 P14550 VAR_048212 p.Asn52Ser Polymorphism rs2229540 -
AKR1A1 P14550 VAR_058909 p.Glu55Asp Polymorphism rs6690497 -
AKR1B1 P15121 VAR_014743 p.Ile15Phe Polymorphism rs5054 -
AKR1B1 P15121 VAR_014744 p.His42Leu Polymorphism rs5056 -
AKR1B1 P15121 VAR_014745 p.Leu73Val Polymorphism rs5057 -
AKR1B1 P15121 VAR_014746 p.Gly204Ser Polymorphism rs5061 -
AKR1B1 P15121 VAR_014747 p.Thr288Ile Polymorphism rs5062 -
AKR1B1 P15121 VAR_048213 p.Lys90Glu Polymorphism rs2229542 -
AKR1B10 O60218 VAR_013287 p.Asn313Asp Polymorphism rs4728329 -
AKR1B10 O60218 VAR_020077 p.Pro87Ser Polymorphism rs2303312 -
AKR1B10 O60218 VAR_020078 p.Met286Thr Polymorphism rs3735042 -
AKR1C1 Q04828 VAR_048214 p.Arg170His Polymorphism rs17295755 -
AKR1C1 Q04828 VAR_048215 p.Gln172Leu Polymorphism rs17354444 -
AKR1C2 P52895 VAR_014748 p.Leu172Gln Polymorphism rs11474 -
AKR1C2 P52895 VAR_048216 p.Phe46Tyr Polymorphism rs2854482 -
AKR1C2 P52895 VAR_066632 p.Ile79Val Disease - 46,XY sex reversal type 8 (SRXY8) [MIM:614279]
AKR1C2 P52895 VAR_066633 p.His90Gln Disease - 46,XY sex reversal type 8 (SRXY8) [MIM:614279]
AKR1C2 P52895 VAR_066634 p.His222Gln Disease - 46,XY sex reversal type 8 (SRXY8) [MIM:614279]
AKR1C2 P52895 VAR_066635 p.Asn300Thr Disease - 46,XY sex reversal type 8 (SRXY8) [MIM:614279]
AKR1C3 P42330 VAR_013288 p.His5Gln Polymorphism rs12529 -
AKR1C3 P42330 VAR_013289 p.Met175Ile Polymorphism rs1131132 -
AKR1C3 P42330 VAR_032767 p.Arg66Gln Polymorphism rs35961894 -
AKR1C3 P42330 VAR_032768 p.Arg170Cys Polymorphism rs35575889 -
AKR1C3 P42330 VAR_032769 p.Pro180Ser Polymorphism rs34186955 -
AKR1C3 P42330 VAR_061001 p.Glu77Gly Polymorphism rs41306308 -
AKR1C4 P17516 VAR_013290 p.Ser145Cys Polymorphism rs3829125 -
AKR1C4 P17516 VAR_013291 p.Leu311Val Polymorphism rs17134592 -
AKR1C4 P17516 VAR_028240 p.Gly135Glu Polymorphism rs11253043 -
AKR1C4 P17516 VAR_028241 p.Cys170Tyr Polymorphism rs17851824 -
AKR1C4 P17516 VAR_028242 p.Gln250Arg Polymorphism rs4880718 -
AKR1CL1 Q5T2L2 VAR_032355 p.Arg50His Polymorphism rs7097295 -
AKR1D1 P51857 VAR_033007 p.Leu106Phe Disease - Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]
AKR1D1 P51857 VAR_033008 p.Pro198Leu Disease - Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]
AKR1D1 P51857 VAR_044430 p.Pro133Arg Disease - Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]
AKR1D1 P51857 VAR_044431 p.Arg261Cys Disease - Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]
AKR1E2 Q96JD6 VAR_032356 p.Cys52Gly Polymorphism rs35429729 -
AKR1E2 Q96JD6 VAR_032357 p.Lys86Arg Polymorphism rs17133693 -
AKR7A2 O43488 VAR_017413 p.Ala142Thr Polymorphism rs1043657 -
AKR7A2 O43488 VAR_017414 p.Gln157His Polymorphism rs859208 -
AKR7A2 O43488 VAR_017415 p.Cys214Tyr Polymorphism rs2235794 -
AKR7A2 O43488 VAR_048209 p.Val135Met Polymorphism rs6670759 -
AKR7A2 O43488 VAR_048210 p.Gly198Ser Polymorphism rs2231200 -
AKR7A2 O43488 VAR_048211 p.Ser255Asn Polymorphism rs2231203 -
AKR7A2 O43488 VAR_060222 p.Glu180Lys Polymorphism rs859210 -
AKR7A3 O95154 VAR_017416 p.Val138Met Polymorphism rs2231198 -
AKR7A3 O95154 VAR_017417 p.Asn215Asp Polymorphism rs1738023 -
AKR7A3 O95154 VAR_017418 p.Thr323Ala Polymorphism rs1738025 -
AKR7L Q8NHP1 VAR_046190 p.Ala255Thr Polymorphism rs2235795 -
AKR7L Q8NHP1 VAR_046191 p.Phe322Val Polymorphism rs2982534 -
AKT1 P31749 VAR_051617 p.Val167Ala Polymorphism rs11555433 -
AKT1 P31749 VAR_055422 p.Glu17Lys Disease rs121434592 Breast cancer (BC) [MIM:114480]
AKT1 P31749 VAR_055422 p.Glu17Lys Disease rs121434592 Proteus syndrome (PROTEUSS) [MIM:176920]
AKT1S1 Q96B36 VAR_028239 p.Ala47Pro Polymorphism rs17850191 -
AKT2 P31751 VAR_040356 p.Ile188Val Polymorphism rs55859611 -
AKT2 P31751 VAR_040357 p.Arg208Lys Polymorphism rs35817154 -
AKT3 Q9Y243 VAR_040358 p.Gly171Arg Unclassified - A glioblastoma multiforme sample
AKT3 Q9Y243 VAR_065830 p.Glu17Lys Unclassified - Melanoma
ALAD P13716 VAR_003633 p.Lys59Asn Polymorphism rs1800435 -
ALAD P13716 VAR_003634 p.Gly133Arg Disease - Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD P13716 VAR_003635 p.Arg240Trp Disease - Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD P13716 VAR_003636 p.Ala274Thr Disease - Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD P13716 VAR_003637 p.Val275Met Disease - Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD P13716 VAR_020973 p.Phe12Leu Unclassified - -
ALAD P13716 VAR_020974 p.Val153Met Disease - Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAS2 P22557 VAR_000562 p.Thr388Ser Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_000563 p.Arg411Cys Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_000564 p.Ile476Asn Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_012334 p.Tyr199His Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_012335 p.Arg204Gln Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_012336 p.Arg448Gln Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_012337 p.Arg452Cys Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_018604 p.Asp159Tyr Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_018605 p.Arg560His Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_066232 p.Lys156Glu Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_066233 p.Arg170His Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_066234 p.Arg218His Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_066235 p.Glu242Lys Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_066236 p.Asp263Asn Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_066237 p.Pro339Leu Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_066238 p.Arg375Cys Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_066239 p.Arg411His Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_066240 p.Arg452Gly Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_066241 p.Arg452His Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_066242 p.Pro520Leu Polymorphism - -
ALAS2 P22557 VAR_066243 p.Arg572His Disease - Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 P22557 VAR_066244 p.Tyr586Phe Unclassified - -
ALB P02768 VAR_000499 p.Arg23Cys Unclassified - -
ALB P02768 VAR_000500 p.Arg23His Unclassified - -
ALB P02768 VAR_000501 p.Arg24Leu Unclassified - -
ALB P02768 VAR_000502 p.Arg24Pro Unclassified - -
ALB P02768 VAR_000503 p.Arg24Gln Unclassified - -
ALB P02768 VAR_000504 p.Asp25Val Unclassified - -
ALB P02768 VAR_000505 p.His27Gln Unclassified - -
ALB P02768 VAR_000506 p.His27Tyr Unclassified - -
ALB P02768 VAR_000507 p.Glu84Lys Unclassified - -
ALB P02768 VAR_000508 p.Asp87Asn Unclassified - -
ALB P02768 VAR_000509 p.Glu106Lys Unclassified - -
ALB P02768 VAR_000510 p.Arg138Gly Unclassified - -
ALB P02768 VAR_000511 p.Glu143Lys Unclassified - -
ALB P02768 VAR_000512 p.His152Arg Unclassified - -
ALB P02768 VAR_000513 p.Cys201Phe Unclassified - -
ALB P02768 VAR_000514 p.Arg242His Disease - Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]
ALB P02768 VAR_000515 p.Lys249Gln Unclassified - -
ALB P02768 VAR_000516 p.Lys264Glu Unclassified - -
ALB P02768 VAR_000517 p.Gln292Arg Unclassified - -
ALB P02768 VAR_000518 p.Asp293Gly Unclassified - -
ALB P02768 VAR_000519 p.Lys300Asn Unclassified - -
ALB P02768 VAR_000520 p.Lys337Asn Unclassified - -
ALB P02768 VAR_000521 p.Asn342Lys Unclassified - -
ALB P02768 VAR_000522 p.Ala344Thr Unclassified - -
ALB P02768 VAR_000523 p.Glu345Lys Unclassified - -
ALB P02768 VAR_000524 p.Glu357Lys Unclassified - -
ALB P02768 VAR_000525 p.Glu378Lys Unclassified - -
ALB P02768 VAR_000526 p.Glu382Lys Unclassified - -
ALB P02768 VAR_000527 p.Asp389His Unclassified - -
ALB P02768 VAR_000528 p.Asp389Val Unclassified - -
ALB P02768 VAR_000529 p.Lys396Glu Unclassified - -
ALB P02768 VAR_000530 p.Asp399Asn Unclassified - -
ALB P02768 VAR_000531 p.Glu400Lys Unclassified - -
ALB P02768 VAR_000532 p.Glu400Gln Unclassified - -
ALB P02768 VAR_000533 p.Glu406Lys Unclassified - -
ALB P02768 VAR_000534 p.Glu503Lys Unclassified - -
ALB P02768 VAR_000535 p.Asp518Asn Unclassified - -
ALB P02768 VAR_000536 p.Glu525Lys Unclassified - -
ALB P02768 VAR_000537 p.Glu529Lys Unclassified - -
ALB P02768 VAR_000538 p.Lys560Glu Unclassified - -
ALB P02768 VAR_000539 p.Lys565Glu Unclassified - -
ALB P02768 VAR_000540 p.Asp574Gly Unclassified - -
ALB P02768 VAR_000541 p.Asp574Ala Unclassified - -
ALB P02768 VAR_000542 p.Asp587Asn Unclassified - -
ALB P02768 VAR_000543 p.Glu589Lys Unclassified - -
ALB P02768 VAR_000544 p.Glu594Lys Unclassified - -
ALB P02768 VAR_000545 p.Lys597Glu Unclassified - -
ALB P02768 VAR_000546 p.Lys598Asn Unclassified - -
ALB P02768 VAR_010657 p.Phe73Tyr Polymorphism - -
ALB P02768 VAR_013011 p.Leu90Pro Disease - Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]
ALB P02768 VAR_013012 p.Val146Glu Unclassified - -
ALB P02768 VAR_013013 p.Arg242Pro Disease - Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]
ALB P02768 VAR_013014 p.Asp338Gly Unclassified - -
ALB P02768 VAR_013015 p.Asp338Val Unclassified - -
ALB P02768 VAR_013016 p.Lys383Asn Unclassified - -
ALB P02768 VAR_013017 p.Arg434Cys Unclassified - -
ALB P02768 VAR_013018 p.Val557Met Unclassified - -
ALB P02768 VAR_013019 p.Lys584Glu Unclassified - -
ALB P02768 VAR_014290 p.Glu121Gly Polymorphism - -
ALB P02768 VAR_014291 p.Ala215Thr Polymorphism rs3210154 -
ALB P02768 VAR_014292 p.Ala215Val Polymorphism rs3204504 -
ALB P02768 VAR_014293 p.Gln220Leu Polymorphism rs3210163 -
ALB P02768 VAR_014294 p.Glu420Lys Polymorphism - -
ALB P02768 VAR_014295 p.Lys490Glu Polymorphism rs1063469 -
ALCAM Q13740 VAR_003907 p.Asn258Ser Polymorphism rs1044240 -
ALCAM Q13740 VAR_003908 p.Thr301Met Polymorphism rs1044243 -
ALCAM Q13740 VAR_029514 p.Gly229Asp Polymorphism rs10933819 -
ALCAM Q13740 VAR_029515 p.Leu315Met Polymorphism rs12629872 -
ALCAM Q13740 VAR_029516 p.Val352Met Polymorphism rs2291375 -
ALCAM Q13740 VAR_049856 p.Met367Ile Polymorphism rs34926152 -
ALDH16A1 Q8IZ83 VAR_037638 p.Glu110Lys Polymorphism rs3745312 -
ALDH16A1 Q8IZ83 VAR_037639 p.Leu227Val Polymorphism rs1320303 -
ALDH18A1 P54886 VAR_038482 p.Arg84Gln Disease - Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]
ALDH18A1 P54886 VAR_051792 p.Thr299Ile Polymorphism rs2275272 -
ALDH18A1 P54886 VAR_051793 p.Ser372Tyr Polymorphism rs3765571 -
ALDH18A1 P54886 VAR_058006 p.His784Tyr Disease - Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]
ALDH1A1 P00352 VAR_017778 p.Ile177Phe Polymorphism rs8187929 -
ALDH1A1 P00352 VAR_048901 p.Asn121Ser Polymorphism rs1049981 -
ALDH1A1 P00352 VAR_048902 p.Gly125Arg Polymorphism rs11554423 -
ALDH1A2 O94788 VAR_025439 p.Glu50Gly Polymorphism rs34266719 -
ALDH1A2 O94788 VAR_025440 p.Ala110Val Polymorphism rs35365164 -
ALDH1A2 O94788 VAR_025441 p.Val348Ile Polymorphism rs4646626 -
ALDH1A2 O94788 VAR_025442 p.Glu436Lys Polymorphism rs34744827 -
ALDH1A3 P47895 VAR_019706 p.Met386Val Polymorphism rs3803430 -
ALDH1B1 P30837 VAR_002257 p.Ala86Val Polymorphism rs2228093 -
ALDH1B1 P30837 VAR_002258 p.Leu107Arg Polymorphism rs2073478 -
ALDH1B1 P30837 VAR_029891 p.Thr202Ile Polymorphism rs4646773 -
ALDH1B1 P30837 VAR_029892 p.Val253Met Polymorphism rs4878199 -
ALDH1L1 O75891 VAR_036101 p.Ala511Val Unclassified - A colorectal cancer sample
ALDH1L1 O75891 VAR_052290 p.Leu254Pro Polymorphism rs3796191 -
ALDH1L1 O75891 VAR_052291 p.Val330Phe Polymorphism rs2886059 -
ALDH1L1 O75891 VAR_052292 p.Glu429Ala Polymorphism rs9282691 -
ALDH1L1 O75891 VAR_052293 p.Ala436Thr Polymorphism rs9282692 -
ALDH1L1 O75891 VAR_052294 p.Ala436Val Polymorphism rs9282693 -
ALDH1L1 O75891 VAR_052295 p.Ser448Asn Polymorphism rs9282697 -
ALDH1L1 O75891 VAR_052296 p.Ser481Gly Polymorphism rs2276724 -
ALDH1L1 O75891 VAR_052297 p.Asp793Gly Polymorphism rs1127717 -
ALDH1L1 O75891 VAR_052298 p.Glu803Lys Polymorphism rs9282689 -
ALDH1L1 O75891 VAR_052299 p.Ile812Val Polymorphism rs4646750 -
ALDH2 P05091 VAR_002248 p.Glu504Lys Polymorphism rs671 -
ALDH2 P05091 VAR_011302 p.Glu496Lys Polymorphism - -
ALDH2 P05091 VAR_011869 p.Glu337Val Polymorphism rs1062136 -
ALDH3A1 P30838 VAR_011303 p.Pro329Ala Polymorphism rs2228100 -
ALDH3A1 P30838 VAR_018981 p.Ser134Ala Polymorphism rs887241 -
ALDH3A1 P30838 VAR_018982 p.Gly309Glu Polymorphism rs3744692 -
ALDH3A2 P51648 VAR_002249 p.Leu106Arg Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_002250 p.Cys214Tyr Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_002251 p.Cys226Trp Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_002252 p.Asp245Asn Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_002254 p.Pro315Ser Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_002255 p.Ser365Leu Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_002256 p.Gly412Arg Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017510 p.Ile45Phe Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017511 p.Val64Asp Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017512 p.Pro114Leu Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017513 p.Pro121Leu Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017514 p.Thr184Met Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017515 p.Thr184Arg Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017516 p.Gly185Ala Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017517 p.Arg228Cys Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017518 p.Cys237Tyr Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017519 p.Lys266Asn Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017520 p.Tyr279Asn Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017521 p.Met328Ile Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017522 p.Asn386Ser Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017523 p.Gly406Arg Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017524 p.His411Tyr Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017525 p.Ser415Asn Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017526 p.Phe419Ser Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017527 p.Arg423His Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 P51648 VAR_017528 p.Lys447Glu Disease - Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3B2 P48448 VAR_022058 p.Ala50Thr Polymorphism rs3741178 -
ALDH3B2 P48448 VAR_055699 p.Ser302Arg Polymorphism rs4646826 -
ALDH3B2 P48448 VAR_058696 p.Ser52Asn Polymorphism rs1551888 -
ALDH3B2 P48448 VAR_058697 p.His203Arg Polymorphism rs6591270 -
ALDH3B2 P48448 VAR_058698 p.Ser220Gly Polymorphism rs2447571 -
ALDH3B2 P48448 VAR_058699 p.Arg276Trp Polymorphism rs17856219 -
ALDH3B2 P48448 VAR_058700 p.His361Arg Polymorphism rs1551886 -
ALDH4A1 P30038 VAR_002259 p.Pro16Leu Polymorphism - -
ALDH4A1 P30038 VAR_002260 p.Ser352Leu Disease - Hyperprolinemia type 2 (HP-2) [MIM:239510]
ALDH4A1 P30038 VAR_029337 p.Val470Ile Polymorphism rs2230709 -
ALDH4A1 P30038 VAR_048903 p.Thr473Ala Polymorphism rs6695033 -
ALDH5A1 P51649 VAR_016758 p.His180Tyr Polymorphism rs2760118 -
ALDH5A1 P51649 VAR_016759 p.Pro182Leu Polymorphism rs3765310 -
ALDH5A1 P51649 VAR_026199 p.Cys93Phe Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 P51649 VAR_026200 p.Gly176Arg Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 P51649 VAR_026201 p.Cys223Tyr Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 P51649 VAR_026202 p.Thr233Met Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 P51649 VAR_026203 p.Asn255Ser Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 P51649 VAR_026204 p.Gly268Glu Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 P51649 VAR_026205 p.Asn335Lys Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 P51649 VAR_026206 p.Pro382Leu Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 P51649 VAR_026207 p.Pro382Gln Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 P51649 VAR_026208 p.Gly409Asp Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 P51649 VAR_026209 p.Val487Glu Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 P51649 VAR_026210 p.Gly533Arg Disease - Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 P51649 VAR_026227 p.Gly36Arg Polymorphism rs4646832 -
ALDH5A1 P51649 VAR_026228 p.Ala237Ser Unclassified - -
ALDH5A1 P51649 VAR_026229 p.Val406Ile Polymorphism - -
ALDH6A1 Q02252 VAR_010244 p.Gly446Arg Disease - Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105]
ALDH7A1 P49419 VAR_028202 p.Thr412Ala Polymorphism rs2306618 -
ALDH7A1 P49419 VAR_028203 p.Lys439Gln Polymorphism rs12514417 -
ALDH7A1 P49419 VAR_031718 p.Ala199Val Disease - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1 P49419 VAR_031719 p.Glu427Gln Disease - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH8A1 Q9H2A2 VAR_037618 p.Phe402Ser Polymorphism rs2294315 -
ALDH9A1 P49189 VAR_011304 p.Cys116Ser Polymorphism - -
ALDOA P04075 VAR_000550 p.Asp129Gly Disease - Glycogen storage disease type 12 (GSD12) [MIM:611881]
ALDOA P04075 VAR_044142 p.Glu207Lys Disease - Glycogen storage disease type 12 (GSD12) [MIM:611881]
ALDOA P04075 VAR_044143 p.Cys339Tyr Disease - Glycogen storage disease type 12 (GSD12) [MIM:611881]
ALDOA P04075 VAR_044144 p.Gly347Ser Disease - Glycogen storage disease type 12 (GSD12) [MIM:611881]
ALDOA P04075 VAR_048219 p.Glu82Gln Polymorphism rs11553107 -
ALDOA P04075 VAR_048220 p.Gly142Val Polymorphism rs11553108 -
ALDOB P05062 VAR_000551 p.Cys135Arg Disease - Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB P05062 VAR_000552 p.Trp148Arg Unclassified - -
ALDOB P05062 VAR_000553 p.Ala150Pro Disease rs1800546 Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB P05062 VAR_000554 p.Ala175Asp Disease - Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB P05062 VAR_000555 p.Leu257Pro Disease - Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB P05062 VAR_000556 p.Arg304Trp Disease - Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB P05062 VAR_000557 p.Asn335Lys Disease - Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB P05062 VAR_000558 p.Ala338Val Disease - Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB P05062 VAR_020822 p.Ile74Thr Disease - Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB P05062 VAR_020824 p.Pro185Arg Disease - Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB P05062 VAR_020825 p.Glu207Gln Polymorphism rs3739721 -
ALDOB P05062 VAR_020826 p.Val222Phe Disease - Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB P05062 VAR_020827 p.Leu229Pro Disease - Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB P05062 VAR_020828 p.Arg304Gln Disease - Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB P05062 VAR_038429 p.Arg134Ser Polymorphism rs10123355 -
ALDOB P05062 VAR_038430 p.Ile268Asn Polymorphism rs10989495 -
ALDOB P05062 VAR_058211 p.Cys178Arg Disease - Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB P05062 VAR_058212 p.Leu284Pro Disease - Hereditary fructose intolerance (HFI) [MIM:229600]
ALG1 Q9BT22 VAR_023364 p.Ser150Arg Disease - Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]
ALG1 Q9BT22 VAR_023365 p.Ser258Leu Disease rs28939378 Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]
ALG1 Q9BT22 VAR_023366 p.Gln342Pro Disease - Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]
ALG1 Q9BT22 VAR_023367 p.Asp429Glu Polymorphism rs9745522 -
ALG1 Q9BT22 VAR_038425 p.Ser267Asn Polymorphism rs17849848 -
ALG1 Q9BT22 VAR_038426 p.Leu325Met Polymorphism rs17852920 -
ALG1 Q9BT22 VAR_038427 p.Gln455Arg Polymorphism rs17856919 -
ALG1 Q9BT22 VAR_049350 p.Arg438Trp Polymorphism rs16835020 -
ALG10B Q5I7T1 VAR_023753 p.Ile446Val Unclassified - -
ALG10B Q5I7T1 VAR_048217 p.Ala84Gly Polymorphism rs6582584 -
ALG10B Q5I7T1 VAR_061002 p.Ser383Asn Polymorphism rs57963306 -
ALG11 Q2TAA5 VAR_055902 p.Asn108Ser Polymorphism rs17480245 -
ALG11 Q2TAA5 VAR_064908 p.Leu86Ser Disease - Congenital disorder of glycosylation type 1P (CDG1P) [MIM:613661]
ALG12 Q9BV10 VAR_017904 p.Thr67Met Disease - Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
ALG12 Q9BV10 VAR_017905 p.Phe142Val Disease rs28942090 Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
ALG12 Q9BV10 VAR_017906 p.Arg146Gln Disease - Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
ALG12 Q9BV10 VAR_017907 p.Leu158Pro Disease - Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
ALG12 Q9BV10 VAR_024466 p.Ile393Val Polymorphism rs3922872 -
ALG12 Q9BV10 VAR_038428 p.Gly101Arg Disease - Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
ALG14 Q96F25 VAR_029635 p.Val14Met Polymorphism rs11165298 -
ALG1L Q6GMV1 VAR_039962 p.Asn135Asp Polymorphism rs3828357 -
ALG1L Q6GMV1 VAR_039963 p.Ile159Thr Polymorphism rs3811679 -
ALG1L Q6GMV1 VAR_039964 p.Gly184Ser Polymorphism rs3187686 -
ALG2 Q9H553 VAR_049351 p.Ser11Pro Polymorphism rs11545137 -
ALG2 Q9H553 VAR_049352 p.Val367Ala Polymorphism rs35626507 -
ALG3 Q92685 VAR_010306 p.Gly118Asp Disease rs28940588 Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]
ALG3 Q92685 VAR_037805 p.Ile107Val Polymorphism rs2233463 -
ALG3 Q92685 VAR_037806 p.Arg171Gln Disease - Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]
ALG6 Q9Y672 VAR_013442 p.Phe304Ser Polymorphism rs4630153 -
ALG6 Q9Y672 VAR_013443 p.Ala333Val Disease - Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
ALG6 Q9Y672 VAR_013444 p.Ser478Pro Disease - Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
ALG6 Q9Y672 VAR_022511 p.Tyr131His Disease rs35383149 Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
ALG6 Q9Y672 VAR_022512 p.Ser170Ile Disease - Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
ALG6 Q9Y672 VAR_022513 p.Gly227Glu Disease - Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
ALG6 Q9Y672 VAR_022514 p.Ser308Arg Disease - Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
ALG6 Q9Y672 VAR_055493 p.Lys226Asn Polymorphism rs35604168 -
ALG8 Q9BVK2 VAR_023480 p.Thr47Pro Disease - Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]
ALG8 Q9BVK2 VAR_023481 p.Asn222Ser Polymorphism rs665278 -
ALG8 Q9BVK2 VAR_023482 p.Gly275Asp Disease - Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]
ALG8 Q9BVK2 VAR_031596 p.Ile439Thr Polymorphism rs17825668 -
ALG9 Q9H6U8 VAR_023410 p.Tyr287Cys Disease - Congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776]
ALG9 Q9H6U8 VAR_023411 p.Val289Ile Polymorphism rs10502151 -
ALG9 Q9H6U8 VAR_023412 p.Pro506Leu Polymorphism - -
ALG9 Q9H6U8 VAR_023413 p.Glu523Lys Disease - Congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776]
ALG9 Q9H6U8 VAR_049221 p.Ala232Pro Polymorphism rs36111204 -
ALG9 Q9H6U8 VAR_049222 p.Ser255Leu Polymorphism rs17113312 -
ALG9 Q9H6U8 VAR_049223 p.Ile528Ser Polymorphism rs12575909 -
ALK Q9UM73 VAR_031042 p.Ile1461Val Polymorphism rs1670283 -
ALK Q9UM73 VAR_031043 p.Lys1491Arg Polymorphism rs1881420 -
ALK Q9UM73 VAR_031044 p.Asp1529Glu Polymorphism rs1881421 -
ALK Q9UM73 VAR_041477 p.Ser90Leu Polymorphism rs34617074 -
ALK Q9UM73 VAR_041478 p.Val163Leu Polymorphism rs55697431 -
ALK Q9UM73 VAR_041479 p.Glu296Gln Polymorphism rs56077855 -
ALK Q9UM73 VAR_041480 p.Val476Ala Polymorphism rs35093491 -
ALK Q9UM73 VAR_041481 p.Leu560Phe Unclassified - A breast pleomorphic lobular carcinoma sample
ALK Q9UM73 VAR_041482 p.Thr680Ile Polymorphism rs35228363 -
ALK Q9UM73 VAR_041483 p.Ala704Thr Polymorphism rs34829159 -
ALK Q9UM73 VAR_041484 p.Ala877Ser Unclassified - An ovarian serous carcinoma sample
ALK Q9UM73 VAR_041485 p.Thr1012Met Polymorphism rs35073634 -
ALK Q9UM73 VAR_041486 p.Gly1121Asp Polymorphism rs55760835 -
ALK Q9UM73 VAR_041487 p.Ala1274Thr Polymorphism rs45502292 -
ALK Q9UM73 VAR_041488 p.Met1328Leu Polymorphism rs56160491 -
ALK Q9UM73 VAR_041489 p.Lys1416Asn Polymorphism rs55782189 -
ALK Q9UM73 VAR_041490 p.Glu1419Lys Polymorphism rs56181542 -
ALK Q9UM73 VAR_041491 p.Gln1429Arg Polymorphism rs55906201 -
ALK Q9UM73 VAR_055987 p.Phe1376Ser Polymorphism rs17694720 -
ALK Q9UM73 VAR_055988 p.Pro1599His Polymorphism rs1881423 -
ALK Q9UM73 VAR_061288 p.Leu868Gln Polymorphism rs55941323 -
ALK Q9UM73 VAR_063850 p.Asp1091Asn Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063851 p.Gly1128Ala Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063852 p.Thr1151Met Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063853 p.Met1166Arg Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063854 p.Ile1171Asn Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063855 p.Phe1174Cys Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063856 p.Phe1174Ile Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063857 p.Phe1174Leu Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063858 p.Phe1174Val Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063859 p.Arg1192Pro Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063860 p.Ala1234Thr Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063861 p.Phe1245Cys Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063862 p.Phe1245Val Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063863 p.Ile1250Thr Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063864 p.Arg1275Leu Unclassified - -
ALK Q9UM73 VAR_063865 p.Arg1275Gln Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063866 p.Tyr1278Ser Disease - Neuroblastoma type 3 (NBLST3) [MIM:613014]
ALKBH1 Q13686 VAR_048221 p.Met135Ile Polymorphism rs17825440 -
ALKBH1 Q13686 VAR_048222 p.Met324Leu Polymorphism rs6494 -
ALKBH2 Q6NS38 VAR_048223 p.Arg203His Polymorphism rs33962311 -
ALKBH3 Q96Q83 VAR_026631 p.Asp228Glu Polymorphism rs2434470 -
ALKBH3 Q96Q83 VAR_026632 p.Arg164Cys Polymorphism rs2271815 -
ALKBH4 Q9NXW9 VAR_061004 p.Ala247Val Polymorphism rs41275227 -
ALKBH7 Q9BT30 VAR_048224 p.Arg191Gln Polymorphism rs7540 -
ALMS1 Q8TCU4 VAR_025433 p.Val671Gly Polymorphism rs2037814 -
ALMS1 Q8TCU4 VAR_025434 p.Ser2111Arg Polymorphism rs6724782 -
ALMS1 Q8TCU4 VAR_025435 p.Ser2574Asn Polymorphism rs3820700 -
ALMS1 Q8TCU4 VAR_025436 p.Asp2672His Polymorphism rs2017116 -
ALMS1 Q8TCU4 VAR_056734 p.Gly1412Ala Polymorphism rs6546837 -
ALMS1 Q8TCU4 VAR_059575 p.Ile1875Val Polymorphism rs6546838 -
ALMS1 Q8TCU4 VAR_059576 p.Arg2284Pro Polymorphism rs6546839 -
ALMS1 Q8TCU4 VAR_059577 p.Asn2856Ser Polymorphism rs10193972 -
ALMS1 Q8TCU4 VAR_059578 p.Lys3434Glu Polymorphism rs34071195 -
ALMS1P Q96L16 VAR_039260 p.Asn52Ser Polymorphism rs11885953 -
ALOX12 P18054 VAR_004279 p.Ala298Thr Polymorphism - -
ALOX12 P18054 VAR_018743 p.Gln261Arg Polymorphism rs1126667 -
ALOX12 P18054 VAR_018744 p.Asn322Ser Polymorphism rs434473 -
ALOX12 P18054 VAR_018745 p.Arg430His Polymorphism rs11571342 -
ALOX12 P18054 VAR_030471 p.Glu259Lys Polymorphism rs4987104 -
ALOX12B O75342 VAR_015173 p.Leu426Pro Disease - Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
ALOX12B O75342 VAR_015174 p.His578Gln Disease - Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
ALOX12B O75342 VAR_050000 p.Gly94Ser Polymorphism rs8077661 -
ALOX15 P16050 VAR_018746 p.Asp90His Polymorphism rs11568142 -
ALOX15 P16050 VAR_018747 p.Asn103Lys Polymorphism rs11568099 -
ALOX15 P16050 VAR_018748 p.Arg205Gln Polymorphism rs11568101 -
ALOX15 P16050 VAR_035036 p.Gly102Val Polymorphism rs41439950 -
ALOX15 P16050 VAR_035037 p.Val239Met Polymorphism rs3892408 -
ALOX15 P16050 VAR_035038 p.Ala461Pro Polymorphism rs17852628 -
ALOX15 P16050 VAR_035039 p.Thr560Met Polymorphism rs34210653 -
ALOX15B O15296 VAR_024524 p.Gln656Arg Polymorphism rs4792147 -
ALOX15B O15296 VAR_024525 p.Ile676Val Polymorphism rs7225107 -
ALOX15B O15296 VAR_061334 p.Arg486His Polymorphism rs9895916 -
ALOX5 P09917 VAR_028018 p.Glu254Lys Polymorphism rs2228065 -
ALOXE3 Q9BYJ1 VAR_015175 p.Arg396Ser Disease - Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
ALOXE3 Q9BYJ1 VAR_015176 p.Val500Phe Disease - Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
ALPI P09923 VAR_011816 p.His298Leu Polymorphism rs1047223 -
ALPI P09923 VAR_050524 p.Arg144His Polymorphism rs7559279 -
ALPK1 Q96QP1 VAR_028982 p.Asn175Asp Polymorphism rs6533616 -
ALPK1 Q96QP1 VAR_028983 p.Gly565Asp Polymorphism rs2074388 -
ALPK1 Q96QP1 VAR_028984 p.His642Arg Polymorphism rs13148353 -
ALPK1 Q96QP1 VAR_028985 p.Met732Ile Polymorphism rs2074379 -
ALPK1 Q96QP1 VAR_028986 p.Met861Thr Polymorphism rs11726117 -
ALPK1 Q96QP1 VAR_028987 p.Gly870Ser Polymorphism rs2074380 -
ALPK1 Q96QP1 VAR_028988 p.Asn916Asp Polymorphism rs2074381 -
ALPK1 Q96QP1 VAR_041511 p.Gln67Arg Polymorphism rs33943680 -
ALPK1 Q96QP1 VAR_041512 p.Thr292Met Polymorphism rs34120296 -
ALPK1 Q96QP1 VAR_041513 p.Leu320Met Polymorphism - -
ALPK1 Q96QP1 VAR_041514 p.Lys339Glu Unclassified - An ovarian mucinous carcinoma sample
ALPK1 Q96QP1 VAR_041515 p.Lys383Glu Polymorphism - -
ALPK1 Q96QP1 VAR_041516 p.Pro660Leu Polymorphism rs35389530 -
ALPK1 Q96QP1 VAR_041517 p.Gly681Asp Polymorphism rs35519493 -
ALPK1 Q96QP1 VAR_041518 p.Arg873Ile Polymorphism rs34946272 -
ALPK1 Q96QP1 VAR_041519 p.Glu910Asp Polymorphism rs35308602 -
ALPK1 Q96QP1 VAR_041520 p.Pro935Leu Polymorphism rs34780600 -
ALPK1 Q96QP1 VAR_041521 p.Arg1084Gln Polymorphism rs34677416 -
ALPK1 Q96QP1 VAR_041522 p.Leu1117Pro Polymorphism rs35756863 -
ALPK1 Q96QP1 VAR_041523 p.Ala1160Gly Polymorphism rs55696324 -
ALPK1 Q96QP1 VAR_057741 p.His1008Pro Polymorphism rs34079946 -
ALPK2 Q86TB3 VAR_045591 p.Glu942Lys Unclassified - An ovarian undifferentiated carcinoma sample
ALPK2 Q86TB3 VAR_045593 p.Leu1296Val Polymorphism rs3809976 -
ALPK2 Q86TB3 VAR_045594 p.Lys1476Thr Unclassified - A melanoma metastatic sample
ALPK2 Q86TB3 VAR_045595 p.Glu1969Lys Polymorphism rs17065127 -
ALPK2 Q86TB3 VAR_054914 p.Lys2Thr Polymorphism rs6566987 -
ALPK2 Q86TB3 VAR_054915 p.Arg136Ser Polymorphism rs9944810 -
ALPK2 Q86TB3 VAR_054916 p.His719Gln Polymorphism rs12103986 -
ALPK2 Q86TB3 VAR_054917 p.Gly810Ser Polymorphism rs3809970 -
ALPK2 Q86TB3 VAR_054918 p.Arg825Thr Polymorphism rs3809972 -
ALPK2 Q86TB3 VAR_054919 p.Lys829Asn Polymorphism rs3809973 -
ALPK2 Q86TB3 VAR_054920 p.Ser884Leu Polymorphism rs3809974 -
ALPK2 Q86TB3 VAR_054921 p.Thr891Ile Polymorphism rs3826593 -
ALPK2 Q86TB3 VAR_054922 p.Asn916Lys Polymorphism rs4940404 -
ALPK2 Q86TB3 VAR_054923 p.Ser977Thr Polymorphism rs3809975 -
ALPK2 Q86TB3 VAR_054924 p.Leu1057Val Polymorphism rs3809976 -
ALPK2 Q86TB3 VAR_054925 p.Lys1134Asn Polymorphism rs35791514 -
ALPK2 Q86TB3 VAR_054926 p.His1174Pro Polymorphism rs3809977 -
ALPK2 Q86TB3 VAR_054927 p.Pro1449Ser Polymorphism rs3809982 -
ALPK2 Q86TB3 VAR_054928 p.Ala1551Ser Polymorphism rs3809983 -
ALPK2 Q86TB3 VAR_054929 p.Gln1579Arg Polymorphism rs33910491 -
ALPK2 Q86TB3 VAR_054930 p.Lys1729Glu Polymorphism rs34409558 -
ALPK2 Q86TB3 VAR_054931 p.Lys1730Glu Polymorphism rs17065127 -
ALPK2 Q86TB3 VAR_054932 p.His1767Tyr Polymorphism rs7234999 -
ALPK2 Q86TB3 VAR_054933 p.Ile2157Val Polymorphism rs7240666 -
ALPK2 Q86TB3 VAR_057742 p.Arg1884Cys Polymorphism rs33969768 -
ALPK2 Q86TB3 VAR_062168 p.Gly1063Val Polymorphism rs34347938 -
ALPK3 Q96L96 VAR_028989 p.Thr414Ser Polymorphism rs3803403 -
ALPK3 Q96L96 VAR_028990 p.Gly579Glu Polymorphism rs3803405 -
ALPK3 Q96L96 VAR_028991 p.Thr761Met Polymorphism rs16974569 -
ALPK3 Q96L96 VAR_028992 p.Pro1299Leu Polymorphism rs306197 -
ALPK3 Q96L96 VAR_028993 p.Leu1622Pro Polymorphism rs187316 -
ALPK3 Q96L96 VAR_041524 p.Arg336His Polymorphism rs34407151 -
ALPK3 Q96L96 VAR_041525 p.Thr338Ile Polymorphism - -
ALPK3 Q96L96 VAR_041526 p.Gln433Glu Unclassified - A lung large cell carcinoma sample
ALPK3 Q96L96 VAR_041527 p.Gln602Arg Polymorphism - -
ALPK3 Q96L96 VAR_041528 p.Gly663Asp Polymorphism - -
ALPK3 Q96L96 VAR_041529 p.Arg836Leu Polymorphism - -
ALPK3 Q96L96 VAR_041530 p.Glu929Asp Polymorphism - -
ALPK3 Q96L96 VAR_041531 p.Gly1364Glu Unclassified - A metastatic melanoma sample
ALPK3 Q96L96 VAR_041532 p.Arg1412Trp Polymorphism - -
ALPK3 Q96L96 VAR_041533 p.Ala1557Asp Polymorphism rs34775428 -
ALPK3 Q96L96 VAR_057743 p.Glu1013Lys Polymorphism rs35633849 -
ALPK3 Q96L96 VAR_057744 p.Ala1137Gly Polymorphism rs34173528 -
ALPK3 Q96L96 VAR_057745 p.Ala1873Val Polymorphism rs36002219 -
ALPL P05186 VAR_006147 p.Ala33Val Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006148 p.Met62Leu Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006149 p.Arg71Cys Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006150 p.Arg71Pro Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006151 p.Ala111Thr Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006152 p.Arg136His Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006153 p.Gly162Val Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006154 p.His171Tyr Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006155 p.Ala177Thr Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006156 p.Ala179Thr Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006157 p.Glu191Gly Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006158 p.Glu191Lys Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006159 p.Cys201Tyr Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006160 p.Gln207Pro Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006161 p.Tyr263His Polymorphism rs3200254 -
ALPL P05186 VAR_006162 p.Leu289Phe Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006163 p.Asp294Ala Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006164 p.Asp306Val Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006165 p.Phe327Leu Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006166 p.Gly334Asp Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006167 p.Asp378Val Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006168 p.Val382Ile Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006169 p.Tyr436His Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_006170 p.Glu476Lys Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011081 p.Ala40Val Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011082 p.Thr134Asn Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011083 p.Ala176Thr Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011084 p.Lys224Glu Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011085 p.Arg246Ser Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011086 p.Ala348Thr Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011087 p.His381Arg Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011088 p.Asp406Gly Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011089 p.Gly426Cys Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011090 p.Arg450His Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011091 p.Gly456Arg Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011092 p.Asn478Ile Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011093 p.Cys489Ser Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_011094 p.Val522Ala Polymorphism rs34605986 -
ALPL P05186 VAR_013146 p.Ala132Val Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013972 p.Tyr28Cys Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013973 p.Ala51Val Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013974 p.Gly63Val Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013975 p.Arg71His Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013976 p.Gly75Ser Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013977 p.Ala116Thr Disease rs28933974 Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013978 p.Gly120Arg Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013979 p.Gly129Arg Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013980 p.Arg152His Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013981 p.Asn170Asp Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013982 p.Ser181Leu Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013983 p.Arg184Trp Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013984 p.Asn211Asp Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013985 p.Gly220Val Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013986 p.Arg223Trp Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013987 p.Glu235Gly Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013988 p.Gly249Val Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013989 p.Glu291Lys Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013990 p.Asp294Tyr Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013991 p.Gly326Arg Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013992 p.Phe327Gly Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013993 p.Arg391Cys Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013994 p.Ala399Ser Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013995 p.Val423Ala Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013996 p.Ser445Pro Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013997 p.Arg450Cys Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013998 p.Val459Met Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_013999 p.Gly473Ser Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_014000 p.Ile490Phe Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_014001 p.Gly491Arg Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025903 p.Ser17Phe Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025904 p.Ala51Ser Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025905 p.Met62Val Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025906 p.Gly63Arg Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025907 p.Thr68Met Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025908 p.Arg71Ser Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025909 p.Gln76Arg Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025910 p.Pro108Leu Disease rs28933975 Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025911 p.Ala114Gly Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025912 p.Val128Met Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025913 p.Thr134His Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025914 p.Thr148Ile Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025915 p.Gly162Ser Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025916 p.His171Arg Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025917 p.Asp189Glu Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025918 p.Ile212Phe Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025919 p.Gly220Ala Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025920 p.Arg223Gln Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025921 p.Arg272His Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025922 p.Arg272Leu Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025923 p.Leu275Pro Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025924 p.Pro292Thr Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025926 p.Met295Thr Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025927 p.Tyr297Asp Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025928 p.Glu298Lys Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025929 p.Leu299Pro Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025930 p.Glu311Lys Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025932 p.Gly339Arg Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025933 p.Glu354Asp Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025934 p.Arg391His Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025935 p.Thr411Ala Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025936 p.Leu414Met Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025937 p.Asn417Ser Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025938 p.Gly426Asp Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025939 p.Glu452Lys Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPL P05186 VAR_025940 p.Ala468Thr Disease - Hypophosphatasia (HOPS) [MIM:146300]
ALPP P05187 VAR_017419 p.Pro25Leu Polymorphism rs1130335 -
ALPP P05187 VAR_050520 p.Ile89Leu Polymorphism rs13026692 -
ALPP P05187 VAR_050521 p.Arg231Pro Polymorphism rs1048988 -
ALPP P05187 VAR_050522 p.Arg263His Polymorphism rs2853378 -
ALPP P05187 VAR_050523 p.Glu451Gly Polymorphism rs1048994 -
ALPPL2 P10696 VAR_027552 p.Gln34Glu Polymorphism rs1048983 -
ALPPL2 P10696 VAR_027553 p.Leu273Met Polymorphism rs17416141 -
ALPPL2 P10696 VAR_027554 p.Leu316Arg Polymorphism rs1048992 -
ALPPL2 P10696 VAR_027555 p.Gly527Glu Polymorphism rs1048999 -
ALS2 Q96Q42 VAR_015655 p.His102Arg Polymorphism - -
ALS2 Q96Q42 VAR_015656 p.Val368Met Polymorphism rs3219156 -
ALS2 Q96Q42 VAR_015657 p.Arg1406Lys Polymorphism - -
ALS2 Q96Q42 VAR_036747 p.Ile94Val Polymorphism rs3219154 -
ALS2 Q96Q42 VAR_036748 p.Glu159Lys Polymorphism rs3219155 -
ALS2 Q96Q42 VAR_036749 p.Ser1255Phe Polymorphism rs10206276 -
ALS2CL Q60I27 VAR_037791 p.Glu45Gln Polymorphism rs7642448 -
ALS2CL Q60I27 VAR_037792 p.Gln280Glu Unclassified - A breast cancer sample
ALS2CL Q60I27 VAR_037793 p.Leu576Phe Unclassified - A breast cancer sample
ALS2CL Q60I27 VAR_061554 p.Gln29Arg Polymorphism rs59661801 -
ALS2CR11 Q53TS8 VAR_024769 p.His376Gln Polymorphism rs10804117 -
ALS2CR11 Q53TS8 VAR_035787 p.Lys123Met Unclassified - A colorectal cancer sample
ALS2CR12 Q96Q35 VAR_045625 p.Val43Leu Polymorphism rs13014235 -
ALX3 O95076 VAR_047475 p.Pro234Ala Polymorphism rs12749726 -
ALX3 O95076 VAR_063226 p.Leu168Val Disease - Frontonasal dysplasia type 1 (FND1) [MIM:136760]
ALX3 O95076 VAR_063227 p.Arg183Trp Disease - Frontonasal dysplasia type 1 (FND1) [MIM:136760]
ALX3 O95076 VAR_063228 p.Arg196Trp Disease - Frontonasal dysplasia type 1 (FND1) [MIM:136760]
ALX3 O95076 VAR_063229 p.Asn203Ser Disease - Frontonasal dysplasia type 1 (FND1) [MIM:136760]
ALX4 Q9H161 VAR_010783 p.Arg35Thr Polymorphism - -
ALX4 Q9H161 VAR_010784 p.Pro102Ser Polymorphism rs12421995 -
ALX4 Q9H161 VAR_010785 p.Arg218Gln Disease - Parietal foramina 2 (PFM2) [MIM:609597]
ALX4 Q9H161 VAR_010897 p.Arg272Pro Disease - Parietal foramina 2 (PFM2) [MIM:609597]
ALX4 Q9H161 VAR_058413 p.Arg257Thr Polymorphism rs3824915 -
AMACR Q9UHK6 VAR_010660 p.Val9Met Polymorphism rs3195676 -
AMACR Q9UHK6 VAR_010661 p.Ser52Pro Disease - Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307]
AMACR Q9UHK6 VAR_010661 p.Ser52Pro Disease - Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]
AMACR Q9UHK6 VAR_010662 p.Gly175Asp Polymorphism rs10941112 -
AMACR Q9UHK6 VAR_010663 p.Leu201Ser Polymorphism rs2287939 -
AMACR Q9UHK6 VAR_010664 p.Glu277Lys Polymorphism rs2278008 -
AMACR Q9UHK6 VAR_010665 p.Leu107Pro Disease - Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]
AMACR Q9UHK6 VAR_055616 p.Arg118Gln Polymorphism rs16892150 -
AMACR Q9UHK6 VAR_055617 p.Pro238Ser Polymorphism rs9282594 -
AMACR Q9UHK6 VAR_055618 p.Gln239His Polymorphism rs34677 -
AMACR Q9UHK6 VAR_055619 p.Met261Ile Polymorphism rs9282593 -
AMACR Q9UHK6 VAR_055620 p.Met261Thr Polymorphism rs3195678 -
AMBN Q9NP70 VAR_014066 p.Met11Thr Unclassified - -
AMBN Q9NP70 VAR_014067 p.Leu354Pro Polymorphism - -
AMBN Q9NP70 VAR_014069 p.His439Arg Unclassified - -
AMBN Q9NP70 VAR_048225 p.Ala255Val Polymorphism rs7439186 -
AMDHD1 Q96NU7 VAR_031419 p.Ser3Gly Polymorphism rs7955450 -
AMDHD1 Q96NU7 VAR_031420 p.Pro360His Polymorphism rs17024904 -
AMDHD2 Q9Y303 VAR_038301 p.Asp294Asn Unclassified - A colorectal cancer sample
AMELX Q99217 VAR_037581 p.Trp4Ser Disease - Amelogenesis imperfecta type 1E (AI1E) [MIM:301200]
AMELX Q99217 VAR_037582 p.Thr37Ile Disease - Amelogenesis imperfecta type 1E (AI1E) [MIM:301200]
AMELX Q99217 VAR_037583 p.Pro56Thr Disease - Amelogenesis imperfecta type 1E (AI1E) [MIM:301200]
AMFR P26442 VAR_014809 p.Ile181Val Polymorphism rs4924 -
AMFR Q9UKV5 VAR_035790 p.Asp605Val Unclassified - A breast cancer sample
AMH P03971 VAR_007483 p.Val12Gly Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_007484 p.Ser49Ile Polymorphism rs10407022 -
AMH P03971 VAR_007485 p.Leu70Pro Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_007486 p.Gly101Val Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_007487 p.Arg123Trp Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_007488 p.Tyr167Cys Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_007489 p.Gln185Glu Polymorphism - -
AMH P03971 VAR_007490 p.Arg194Cys Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_007491 p.Gln325Arg Polymorphism - -
AMH P03971 VAR_007492 p.Val477Ala Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_031027 p.His506Gln Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_031028 p.Cys525Tyr Disease - Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_065100 p.Val515Ala Polymorphism rs10417628 -
AMHR2 Q16671 VAR_015525 p.Arg54Cys Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015526 p.Gly142Val Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015527 p.His282Gln Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015528 p.Arg406Gln Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015529 p.Asp426Gly Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015530 p.Val458Ala Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015531 p.Asp491His Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015532 p.Arg504Cys Disease - Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMICA1 Q86YT9 VAR_049974 p.Ile94Asn Polymorphism rs17121881 -
AMICA1 Q86YT9 VAR_049975 p.Val193Ala Polymorphism rs1793174 -
AMICA1 Q86YT9 VAR_049976 p.Ile322Met Polymorphism rs2298831 -
AMN Q9BXJ7 VAR_015733 p.Thr41Ile Disease rs28939377 Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]
AMOTL1 Q8IY63 VAR_033498 p.Pro847Leu Polymorphism rs11020968 -
AMOTL2 Q9Y2J4 VAR_023535 p.Glu731Asp Polymorphism rs1353776 -
AMOTL2 Q9Y2J4 VAR_055497 p.Thr227Ile Polymorphism rs35377537 -
AMOTL2 Q9Y2J4 VAR_055498 p.Ala342Pro Polymorphism rs2303635 -
AMOTL2 Q9Y2J4 VAR_055499 p.Gly415Ser Polymorphism rs2241559 -
AMPD1 P23109 VAR_013270 p.Pro48Leu Polymorphism - -
AMPD1 P23109 VAR_013271 p.Arg388Trp Disease rs35859650 Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]
AMPD1 P23109 VAR_013272 p.Arg425His Disease - Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]
AMPD1 P23109 VAR_035801 p.Pro633His Unclassified - A colorectal cancer sample
AMPD1 P23109 VAR_048860 p.Glu22Lys Polymorphism rs2273268 -
AMPD3 Q01432 VAR_009881 p.Arg573Cys Disease rs3741040 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3 Q01432 VAR_033499 p.Arg185Trp Polymorphism rs11042836 -
AMPD3 Q01432 VAR_042606 p.Asn310Lys Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3 Q01432 VAR_042607 p.Val311Leu Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3 Q01432 VAR_042608 p.Ala320Val Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3 Q01432 VAR_042609 p.Met324Thr Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3 Q01432 VAR_042610 p.Arg331Cys Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3 Q01432 VAR_042611 p.Arg402Cys Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3 Q01432 VAR_042612 p.Trp450Arg Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3 Q01432 VAR_042613 p.Tyr455His Polymorphism rs36003153 -
AMPD3 Q01432 VAR_042614 p.Pro585Leu Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3 Q01432 VAR_042615 p.Gln712Pro Disease - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPH P49418 VAR_053004 p.Lys218Glu Polymorphism rs35166354 -
AMPH P49418 VAR_053005 p.Met376Ile Polymorphism rs17171345 -
AMPH P49418 VAR_053006 p.Lys496Thr Polymorphism rs35024632 -
AMT P48728 VAR_007951 p.His42Arg Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMT P48728 VAR_007952 p.Gly47Arg Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMT P48728 VAR_007953 p.Gly269Asp Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMT P48728 VAR_007954 p.Asp276His Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMT P48728 VAR_007955 p.Arg320His Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMT P48728 VAR_016847 p.Asn145Ile Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMT P48728 VAR_016848 p.Glu211Lys Disease - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMTN Q6UX39 VAR_035791 p.Gly78Ser Unclassified - A colorectal cancer sample
AMTN Q6UX39 VAR_050661 p.Asn45Ser Polymorphism rs7660807 -
AMTN Q6UX39 VAR_050662 p.Ser50Pro Polymorphism rs34803339 -
AMZ1 Q400G9 VAR_024849 p.Arg491His Polymorphism rs7776970 -
AMZ2 Q86W34 VAR_024850 p.Asn30Asp Polymorphism rs3213690 -
AMZ2 Q86W34 VAR_047343 p.His146Gln Polymorphism rs3207194 -
ANAPC10 Q9UM13 VAR_025200 p.Arg46Gln Polymorphism rs35257136 -
ANAPC4 Q9UJX5 VAR_035792 p.Ile155Val Unclassified - A colorectal cancer sample
ANAPC4 Q9UJX5 VAR_054044 p.Arg465Gln Polymorphism rs34811474 -
ANAPC4 Q9UJX5 VAR_054045 p.Glu800Gly Polymorphism rs11550697 -
ANAPC5 Q9UJX4 VAR_035793 p.Gln617His Unclassified - A breast cancer sample
ANG P03950 VAR_013148 p.Lys84Glu Polymorphism rs17560 -
ANG P03950 VAR_044145 p.Phe12Ser Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044146 p.Pro20Ser Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044147 p.Gln36Leu Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044148 p.Lys41Glu Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044149 p.Lys41Ile Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044150 p.Ser52Asn Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044151 p.Arg55Lys Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044152 p.Cys63Trp Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044153 p.Lys64Ile Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044154 p.Ile70Val Unclassified - -
ANG P03950 VAR_044155 p.Pro136Leu Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044156 p.Val137Ile Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044157 p.His138Arg Disease - Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
ANGEL1 Q9UNK9 VAR_056239 p.Gly141Trp Polymorphism rs34270005 -
ANGEL1 Q9UNK9 VAR_056240 p.Phe515Cys Polymorphism rs2075773 -
ANGEL1 Q9UNK9 VAR_061374 p.Val383Leu Polymorphism rs45499197 -
ANGEL2 Q5VTE6 VAR_050290 p.Pro97Ser Polymorphism rs11542154 -
ANGPT2 O15123 VAR_049069 p.Val333Ile Polymorphism rs7813215 -
ANGPT4 Q9Y264 VAR_049070 p.Glu395Lys Polymorphism rs869171 -
ANGPTL3 Q9Y5C1 VAR_049071 p.Asn418Tyr Polymorphism rs4145257 -
ANGPTL4 Q9BY76 VAR_020428 p.Thr266Met Polymorphism rs1044250 -
ANGPTL4 Q9BY76 VAR_032642 p.Pro5Leu Polymorphism - -
ANGPTL4 Q9BY76 VAR_032643 p.Glu40Lys Unclassified - -
ANGPTL4 Q9BY76 VAR_032644 p.Met41Ile Polymorphism - -
ANGPTL4 Q9BY76 VAR_032645 p.Ser67Arg Polymorphism - -
ANGPTL4 Q9BY76 VAR_032646 p.Arg72Leu Polymorphism - -
ANGPTL4 Q9BY76 VAR_032647 p.Gly77Arg Polymorphism - -
ANGPTL4 Q9BY76 VAR_032648 p.Glu167Lys Polymorphism - -
ANGPTL4 Q9BY76 VAR_032649 p.Pro174Ser Polymorphism - -
ANGPTL4 Q9BY76 VAR_032650 p.Glu190Gln Polymorphism - -
ANGPTL4 Q9BY76 VAR_032651 p.Glu196Lys Polymorphism - -
ANGPTL4 Q9BY76 VAR_032652 p.Arg230Cys Polymorphism - -
ANGPTL4 Q9BY76 VAR_032653 p.Gly233Arg Polymorphism - -
ANGPTL4 Q9BY76 VAR_032654 p.Phe237Val Polymorphism - -
ANGPTL4 Q9BY76 VAR_032655 p.Pro251Thr Polymorphism - -
ANGPTL4 Q9BY76 VAR_032656 p.Arg278Gln Polymorphism rs35061979 -
ANGPTL4 Q9BY76 VAR_032657 p.Val291Met Polymorphism - -
ANGPTL4 Q9BY76 VAR_032658 p.Leu293Met Polymorphism - -
ANGPTL4 Q9BY76 VAR_032659 p.Glu296Val Polymorphism - -
ANGPTL4 Q9BY76 VAR_032660 p.Pro307Ser Polymorphism - -
ANGPTL4 Q9BY76 VAR_032661 p.Val308Met Polymorphism - -
ANGPTL4 Q9BY76 VAR_032662 p.Arg336Cys Polymorphism - -
ANGPTL4 Q9BY76 VAR_032663 p.Asp338Glu Polymorphism - -
ANGPTL4 Q9BY76 VAR_032664 p.Trp349Cys Polymorphism - -
ANGPTL4 Q9BY76 VAR_032665 p.Gly361Arg Polymorphism - -
ANGPTL4 Q9BY76 VAR_032666 p.Gly361Ser Polymorphism - -
ANGPTL4 Q9BY76 VAR_032667 p.Arg371Gln Polymorphism - -
ANGPTL4 Q9BY76 VAR_032668 p.Arg384Trp Polymorphism - -
ANGPTL5 Q86XS5 VAR_055803 p.Ser175Pro Polymorphism rs7946238 -
ANGPTL7 O43827 VAR_025075 p.Glu51Asp Polymorphism rs28990992 -
ANGPTL7 O43827 VAR_025076 p.Arg140His Polymorphism rs28991002 -
ANGPTL7 O43827 VAR_025077 p.Gln175His Polymorphism rs28991009 -
ANK1 P16157 VAR_000595 p.Arg21Thr Polymorphism - -
ANK1 P16157 VAR_000596 p.Val463Ile Disease - Spherocytosis type 1 (SPH1) [MIM:182900]
ANK1 P16157 VAR_000597 p.Arg619His Polymorphism rs2304877 -
ANK1 P16157 VAR_000598 p.Val750Ala Polymorphism - -
ANK1 P16157 VAR_000599 p.Asp845Glu Polymorphism - -
ANK1 P16157 VAR_000600 p.Ser1392Thr Polymorphism - -
ANK1 P16157 VAR_000601 p.Glu1286Asp Polymorphism - -
ANK1 P16157 VAR_000602 p.Asp1592Asn Unclassified - -
ANK1 P16157 VAR_026411 p.Val991Leu Polymorphism - -
ANK1 P16157 VAR_028769 p.Leu733Ile Polymorphism rs11778936 -
ANK1 P16157 VAR_028770 p.Ala1126Pro Polymorphism rs504465 -
ANK1 P16157 VAR_028771 p.Thr1192Pro Polymorphism rs486770 -
ANK1 P16157 VAR_028772 p.Met1325Val Polymorphism rs10093583 -
ANK1 P16157 VAR_028773 p.Val1546Ile Polymorphism rs1060130 -
ANK1 P16157 VAR_035605 p.Asp332His Unclassified - A breast cancer sample
ANK1 P16157 VAR_048263 p.Thr1075Ile Polymorphism rs35213384 -
ANK1 P16157 VAR_054991 p.Leu276Arg Disease - Spherocytosis type 1 (SPH1) [MIM:182900]
ANK1 P16157 VAR_054992 p.Ile1054Thr Disease - Spherocytosis type 1 (SPH1) [MIM:182900]
ANK1 P16157 VAR_061012 p.Arg832Gln Polymorphism rs34523608 -
ANK2 Q01484 VAR_022934 p.Glu1425Gly Disease - Long QT syndrome type 4 (LQT4) [MIM:600919]
ANK2 Q01484 VAR_022935 p.Leu3707Ile Disease - Long QT syndrome type 4 (LQT4) [MIM:600919]
ANK2 Q01484 VAR_022936 p.Thr3711Asn Disease - Long QT syndrome type 4 (LQT4) [MIM:600919]
ANK2 Q01484 VAR_022937 p.Arg3873Trp Disease - Long QT syndrome type 4 (LQT4) [MIM:600919]
ANK2 Q01484 VAR_022938 p.Glu3898Lys Disease - Long QT syndrome type 4 (LQT4) [MIM:600919]
ANK2 Q01484 VAR_035606 p.Gly685Glu Unclassified - A breast cancer sample
ANK2 Q01484 VAR_035607 p.Gly1234Arg Unclassified - A colorectal cancer sample
ANK2 Q01484 VAR_035608 p.Thr3620Lys Unclassified - A colorectal cancer sample
ANK2 Q01484 VAR_055504 p.Asn687Ser Polymorphism rs29372 -
ANK2 Q01484 VAR_055505 p.Val2336Ala Polymorphism rs28377576 -
ANK3 Q12955 VAR_054333 p.Ile4257Val Polymorphism rs12261793 -
ANK3 Q12955 VAR_059115 p.His2885Gln Polymorphism rs11599164 -
ANK3 Q12955 VAR_059116 p.Ile3117Val Polymorphism rs28932171 -
ANK3 Q12955 VAR_059117 p.Lys3123Arg Polymorphism rs10821668 -
ANK3 Q12955 VAR_061013 p.Lys2318Arg Polymorphism rs59021407 -
ANK3 Q12955 VAR_061014 p.Gln2996His Polymorphism rs41274672 -
ANKAR Q7Z5J8 VAR_032164 p.Ile675Val Polymorphism rs16831887 -
ANKAR Q7Z5J8 VAR_032165 p.Leu1077Phe Polymorphism rs1225090 -
ANKDD1A Q495B1 VAR_032358 p.Lys355Glu Polymorphism rs34988193 -
ANKFN1 Q8N957 VAR_060725 p.Val445Ile Polymorphism rs10852985 -
ANKH Q9HCJ1 VAR_012192 p.Trp292Arg Disease - Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000]
ANKH Q9HCJ1 VAR_012193 p.Cys331Arg Disease - Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000]
ANKH Q9HCJ1 VAR_012198 p.Gly389Arg Disease rs28939080 Craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000]
ANKH Q9HCJ1 VAR_017556 p.Met48Thr Disease - Chondrocalcinosis 2 (CCAL2) [MIM:118600]
ANKH Q9HCJ1 VAR_022606 p.Pro5Leu Disease - Chondrocalcinosis 2 (CCAL2) [MIM:118600]
ANKH Q9HCJ1 VAR_022607 p.Pro5Thr Disease - Chondrocalcinosis 2 (CCAL2) [MIM:118600]
ANKHD1 Q8IWZ3 VAR_035291 p.Leu175Met Polymorphism rs17850570 -
ANKHD1 Q8IWZ3 VAR_035292 p.Gly228Cys Polymorphism rs17850572 -
ANKHD1 Q8IWZ3 VAR_035293 p.Asn1760Ser Polymorphism rs3752704 -
ANKHD1 Q8IWZ3 VAR_048281 p.Gly1586Ser Polymorphism rs1051309 -
ANKIB1 Q9P2G1 VAR_030862 p.Leu1016Met Polymorphism rs38794 -
ANKK1 Q8NFD2 VAR_025010 p.Glu713Lys Polymorphism rs1800497 -
ANKK1 Q8NFD2 VAR_036784 p.Ala239Thr Polymorphism rs7118900 -
ANKK1 Q8NFD2 VAR_036785 p.Gly318Arg Polymorphism rs11604671 -
ANKK1 Q8NFD2 VAR_036786 p.Gly442Arg Polymorphism rs4938016 -
ANKK1 Q8NFD2 VAR_036787 p.His490Arg Polymorphism rs2734849 -
ANKK1 Q8NFD2 VAR_040359 p.Asp4Tyr Polymorphism rs35657708 -
ANKK1 Q8NFD2 VAR_040360 p.Arg122His Polymorphism rs35877321 -
ANKK1 Q8NFD2 VAR_040361 p.Pro276Leu Polymorphism rs35488601 -
ANKK1 Q8NFD2 VAR_040362 p.Lys347Thr Unclassified - A breast infiltrating ductal carcinoma sample
ANKK1 Q8NFD2 VAR_040363 p.Leu366Phe Polymorphism rs56339158 -
ANKK1 Q8NFD2 VAR_040364 p.His367Gln Polymorphism rs34298987 -
ANKK1 Q8NFD2 VAR_040365 p.Glu376Lys Polymorphism rs56299709 -
ANKK1 Q8NFD2 VAR_040366 p.Glu426Lys Polymorphism rs55699907 -
ANKK1 Q8NFD2 VAR_040367 p.Gly451Arg Polymorphism rs34983219 -
ANKK1 Q8NFD2 VAR_040368 p.Thr595Ile Polymorphism rs55787008 -
ANKK1 Q8NFD2 VAR_040369 p.Pro596Leu Polymorphism rs7104979 -
ANKK1 Q8NFD2 VAR_040370 p.Asn653Ser Polymorphism rs55849504 -
ANKK1 Q8NFD2 VAR_040371 p.Ser670Gly Polymorphism rs56006094 -
ANKK1 Q8NFD2 VAR_040372 p.Gln717Leu Unclassified - A lung large cell carcinoma sample
ANKK1 Q8NFD2 VAR_040373 p.Arg736Leu Unclassified - A lung squamous cell carcinoma sample
ANKK1 Q8NFD2 VAR_040374 p.Glu764Lys Unclassified - A lung neuroendocrine carcinoma sample
ANKLE1 Q8NAG6 VAR_033507 p.Leu94Gln Polymorphism rs8108174 -
ANKLE1 Q8NAG6 VAR_033508 p.Leu184Trp Polymorphism rs2363956 -
ANKLE1 Q8NAG6 VAR_033509 p.Thr311Pro Polymorphism rs891017 -
ANKLE1 Q8NAG6 VAR_033510 p.Gln435Arg Polymorphism rs11086065 -
ANKLE1 Q8NAG6 VAR_033511 p.Val447Met Polymorphism rs34112069 -
ANKLE1 Q8NAG6 VAR_061015 p.Pro160Ser Polymorphism rs59119993 -
ANKLE1 Q8NAG6 VAR_063681 p.Ala31Thr Polymorphism rs8100241 -
ANKLE1 Q8NAG6 VAR_063682 p.Ala71Val Polymorphism rs1864116 -
ANKLE2 Q86XL3 VAR_031097 p.His122Tyr Polymorphism rs1132375 -
ANKLE2 Q86XL3 VAR_031098 p.Gln148Glu Polymorphism rs7968520 -
ANKLE2 Q86XL3 VAR_031099 p.Arg720His Polymorphism rs10781634 -
ANKMY1 Q9P2S6 VAR_048264 p.Asp89Asn Polymorphism rs35278753 -
ANKMY1 Q9P2S6 VAR_048265 p.Ile424Met Polymorphism rs35996697 -
ANKMY1 Q9P2S6 VAR_048266 p.Asp451Val Polymorphism rs3796118 -
ANKMY1 Q9P2S6 VAR_048267 p.Val472Leu Polymorphism rs3821348 -
ANKMY1 Q9P2S6 VAR_048268 p.Thr649Met Polymorphism rs35044862 -
ANKRD1 Q15327 VAR_047112 p.Thr116Met Disease - Total anomalous pulmonary venous return (TAPVR) [MIM:106700]
ANKRD10 Q9NXR5 VAR_020095 p.Pro320Leu Polymorphism rs3742185 -
ANKRD12 Q6UB98 VAR_019425 p.Ser171Thr Polymorphism - -
ANKRD12 Q6UB98 VAR_022088 p.Ser818Asn Polymorphism rs2298546 -
ANKRD12 Q6UB98 VAR_024173 p.Lys906Arg Polymorphism rs4798791 -
ANKRD12 Q6UB98 VAR_026042 p.Pro277Ala Polymorphism rs2298548 -
ANKRD12 Q6UB98 VAR_048271 p.Glu390Asp Polymorphism rs35101529 -
ANKRD12 Q6UB98 VAR_048272 p.Thr507Ile Polymorphism rs17498752 -
ANKRD12 Q6UB98 VAR_048273 p.Thr531Ser Polymorphism rs7243088 -
ANKRD12 Q6UB98 VAR_048274 p.Leu998Ser Polymorphism rs34996750 -
ANKRD12 Q6UB98 VAR_048275 p.Ser1758Pro Polymorphism rs3744822 -
ANKRD13A Q8IZ07 VAR_048276 p.Leu505Pro Polymorphism rs2287174 -
ANKRD13C Q8N6S4 VAR_026825 p.Thr413Ser Polymorphism rs17852616 -
ANKRD16 Q6P6B7 VAR_026832 p.Gln353Arg Polymorphism rs1052420 -
ANKRD16 Q6P6B7 VAR_033503 p.Ala128Gly Polymorphism rs2296136 -
ANKRD17 O75179 VAR_036711 p.His2560Tyr Polymorphism rs2306059 -
ANKRD18A Q8IVF6 VAR_055507 p.Glu130Lys Polymorphism rs1832313 -
ANKRD18A Q8IVF6 VAR_055508 p.Ala277Glu Polymorphism rs632200 -
ANKRD18A Q8IVF6 VAR_055509 p.Asn484Ser Polymorphism rs2996347 -
ANKRD18A Q8IVF6 VAR_055510 p.Tyr688Cys Polymorphism rs2799163 -
ANKRD18A Q8IVF6 VAR_055511 p.Thr942Ile Polymorphism rs11999308 -
ANKRD18A Q8IVF6 VAR_055512 p.Glu945Asp Polymorphism rs12341435 -
ANKRD18A Q8IVF6 VAR_059118 p.Glu838Asp Polymorphism rs12341435 -
ANKRD2 Q9GZV1 VAR_042498 p.Ala62Thr Polymorphism rs7094973 -
ANKRD22 Q5VYY1 VAR_027628 p.Glu73Gly Polymorphism rs17113412 -
ANKRD22 Q5VYY1 VAR_027629 p.Tyr79His Polymorphism rs17851907 -
ANKRD22 Q5VYY1 VAR_027630 p.Gln148Pro Polymorphism rs2304804 -
ANKRD22 Q5VYY1 VAR_027631 p.Arg177Ile Polymorphism rs7912706 -
ANKRD24 Q8TF21 VAR_042536 p.Ala111Thr Polymorphism rs2052191 -
ANKRD24 Q8TF21 VAR_042537 p.Arg349Gln Polymorphism rs12978469 -
ANKRD24 Q8TF21 VAR_042538 p.Glu585Lys Polymorphism rs10413818 -
ANKRD24 Q8TF21 VAR_042539 p.Ser684Ala Polymorphism rs353693 -
ANKRD26 Q9UPS8 VAR_026833 p.Gln20Arg Polymorphism rs7897309 -
ANKRD26 Q9UPS8 VAR_026834 p.Val1304Ile Polymorphism rs10829163 -
ANKRD26 Q9UPS8 VAR_026835 p.Phe1513Leu Polymorphism rs2274741 -
ANKRD26 Q9UPS8 VAR_055513 p.Ile425Val Polymorphism rs12359281 -
ANKRD26 Q9UPS8 VAR_055514 p.Val1219Leu Polymorphism rs12572862 -
ANKRD26P1 Q6NSI1 VAR_040003 p.Lys265Thr Polymorphism rs1436436 -
ANKRD27 Q96NW4 VAR_030317 p.Ser657Gly Polymorphism rs2287669 -
ANKRD27 Q96NW4 VAR_030318 p.Pro761Arg Polymorphism rs2302970 -
ANKRD29 Q8N6D5 VAR_026869 p.Gly112Glu Polymorphism rs17855552 -
ANKRD29 Q8N6D5 VAR_035610 p.Val95Met Unclassified - A breast cancer sample
ANKRD30A Q9BXX3 VAR_033504 p.Thr611Ala Polymorphism rs16937417 -
ANKRD30A Q9BXX3 VAR_033505 p.Lys917Asn Polymorphism rs1209750 -
ANKRD30A Q9BXX3 VAR_035611 p.Gln227Glu Unclassified - A breast cancer sample
ANKRD30A Q9BXX3 VAR_055515 p.Arg985Cys Polymorphism rs1200875 -
ANKRD30B Q9BXX2 VAR_042540 p.Val375Met Polymorphism rs9748611 -
ANKRD30B Q9BXX2 VAR_042541 p.Phe477Leu Polymorphism rs9675365 -
ANKRD31 Q8N7Z5 VAR_042542 p.Asp702Asn Polymorphism rs1422698 -
ANKRD31 Q8N7Z5 VAR_042543 p.Arg758Gly Polymorphism rs6893216 -
ANKRD31 Q8N7Z5 VAR_042544 p.Asp1609Glu Polymorphism rs961098 -
ANKRD31 Q8N7Z5 VAR_042545 p.Arg1777Lys Polymorphism rs4489037 -
ANKRD32 Q9BQI6 VAR_059120 p.Ser288Arg Polymorphism rs6891545 -
ANKRD33 Q7Z3H0 VAR_059121 p.Tyr5Phe Polymorphism rs697636 -
ANKRD33 Q7Z3H0 VAR_059122 p.Gln132Arg Polymorphism rs34494292 -
ANKRD33 Q7Z3H0 VAR_059123 p.Thr188Asn Polymorphism rs12368048 -
ANKRD33 Q7Z3H0 VAR_059124 p.Val261Ile Polymorphism rs3180417 -
ANKRD34B A5PLL1 VAR_038952 p.Leu156Ser Polymorphism rs32857 -
ANKRD34C P0C6C1 VAR_038953 p.Pro369Arg Polymorphism rs410400 -
ANKRD34C P0C6C1 VAR_038954 p.Pro427His Polymorphism rs449340 -
ANKRD34C P0C6C1 VAR_038955 p.Leu442Ile Polymorphism rs422777 -
ANKRD35 Q8N283 VAR_026870 p.Pro428Ser Polymorphism rs6670984 -
ANKRD35 Q8N283 VAR_033506 p.Asn978Asp Polymorphism rs16827032 -
ANKRD35 Q8N283 VAR_048278 p.Asn53Lys Polymorphism rs6658371 -
ANKRD35 Q8N283 VAR_061017 p.Arg592Gln Polymorphism rs41315701 -
ANKRD36B Q8N2N9 VAR_057818 p.Glu496Asp Polymorphism rs13001728 -
ANKRD36B Q8N2N9 VAR_060687 p.Glu483Gly Polymorphism rs1839230 -
ANKRD36B Q8N2N9 VAR_060688 p.Ser534Ala Polymorphism rs6761299 -
ANKRD37 Q7Z713 VAR_048279 p.Thr152Ser Polymorphism rs4317244 -
ANKRD39 Q53RE8 VAR_026905 p.Ala113Thr Polymorphism rs17852947 -
ANKRD42 Q8N9B4 VAR_028366 p.Asn198Asp Polymorphism rs17515016 -
ANKRD43 Q2M3V2 VAR_059125 p.Arg124Pro Polymorphism rs40274 -
ANKRD43 Q2M3V2 VAR_060465 p.Phe545Leu Polymorphism rs40470 -
ANKRD5 Q9NU02 VAR_024172 p.Leu324Gln Polymorphism rs652633 -
ANKRD5 Q9NU02 VAR_033500 p.Pro74Thr Polymorphism rs7260784 -
ANKRD5 Q9NU02 VAR_033501 p.Gly412Glu Polymorphism rs524625 -
ANKRD5 Q9NU02 VAR_033502 p.Arg742Gln Polymorphism rs6087119 -
ANKRD5 Q9NU02 VAR_035609 p.Lys694Asn Unclassified - A breast cancer sample
ANKRD53 Q8N9V6 VAR_030300 p.Leu153Ile Polymorphism rs17853403 -
ANKRD53 Q8N9V6 VAR_054427 p.Met243Thr Polymorphism rs36123544 -
ANKRD53 Q8N9V6 VAR_061018 p.Ala105Gly Polymorphism rs35096506 -
ANKRD55 Q3KP44 VAR_030283 p.Val344Met Polymorphism rs321776 -
ANKRD55 Q3KP44 VAR_055516 p.Arg593Gln Polymorphism rs34879141 -
ANKRD56 A6NEL2 VAR_048280 p.Pro377Thr Polymorphism rs2703130 -
ANKRD56 A6NEL2 VAR_059126 p.Asp152Gly Polymorphism rs2703129 -
ANKRD58 A6NJG2 VAR_061019 p.Thr254Ala Polymorphism rs12841259 -
ANKRD6 Q9Y2G4 VAR_039114 p.Gln122Glu Polymorphism rs16881983 -
ANKRD6 Q9Y2G4 VAR_039115 p.Ile128Val Polymorphism rs3748085 -
ANKRD6 Q9Y2G4 VAR_039116 p.Thr233Met Polymorphism rs2273238 -
ANKRD6 Q9Y2G4 VAR_039117 p.Thr545Ala Polymorphism rs9362667 -
ANKRD6 Q9Y2G4 VAR_055506 p.Ala550Thr Polymorphism rs9362667 -
ANKRD60 Q9BZ19 VAR_014400 p.Arg295Cys Polymorphism rs584855 -
ANKRD62 A6NC57 VAR_042527 p.Ala188Ser Polymorphism rs1986751 -
ANKRD62 A6NC57 VAR_042528 p.Cys265Arg Polymorphism rs6505715 -
ANKRD62 A6NC57 VAR_042529 p.Glu406Lys Polymorphism rs4519391 -
ANKRD62 A6NC57 VAR_042530 p.Ala613Thr Polymorphism rs7243248 -
ANKS1A Q92625 VAR_021168 p.Leu694Ser Polymorphism rs820085 -
ANKS1A Q92625 VAR_048282 p.Ala355Asp Polymorphism rs6930932 -
ANKS3 Q6ZW76 VAR_048283 p.Ala404Thr Polymorphism rs863980 -
ANKS3 Q6ZW76 VAR_048284 p.Ala593Thr Polymorphism rs9936675 -
ANKS6 Q68DC2 VAR_034794 p.Val644Ile Polymorphism rs6415847 -
ANKUB1 A6NFN9 VAR_045621 p.Arg217Trp Polymorphism rs7645720 -
ANKUB1 A6NFN9 VAR_045622 p.Ile306Met Polymorphism rs3821406 -
ANKUB1 A6NFN9 VAR_045623 p.Ser386Gly Polymorphism rs7610425 -
ANKZF1 Q9H8Y5 VAR_048269 p.Arg569Trp Polymorphism rs2293076 -
ANKZF1 Q9H8Y5 VAR_048270 p.Pro676Leu Polymorphism rs2293079 -
ANLN Q9NQW6 VAR_025661 p.Ser65Trp Polymorphism rs3735400 -
ANLN Q9NQW6 VAR_025662 p.Arg185Lys Polymorphism rs197367 -
ANO1 Q5XXA6 VAR_032417 p.Phe608Ser Polymorphism rs2186797 -
ANO1 Q5XXA6 VAR_032418 p.Gly983Arg Polymorphism rs3740722 -
ANO10 Q9NW15 VAR_032638 p.Arg462Gln Polymorphism rs3772165 -
ANO10 Q9NW15 VAR_032639 p.Thr561Met Polymorphism rs17409162 -
ANO10 Q9NW15 VAR_032640 p.Val583Ala Polymorphism rs17853862 -
ANO10 Q9NW15 VAR_064888 p.Leu510Arg Disease - Spinocerebellar ataxia autosomal recessive type 10 (SCAR10) [MIM:613728]
ANO2 Q9NQ90 VAR_020331 p.Ser505Ala Polymorphism rs1860961 -
ANO2 Q9NQ90 VAR_021932 p.Val112Ala Polymorphism rs3741903 -
ANO2 Q9NQ90 VAR_057286 p.Pro147Ser Polymorphism rs3741901 -
ANO2 Q9NQ90 VAR_061853 p.Met401Ile Polymorphism rs17788563 -
ANO3 Q9BYT9 VAR_057287 p.Leu781Val Polymorphism rs11825056 -
ANO4 Q32M45 VAR_032453 p.Gly115Ala Polymorphism rs34162417 -
ANO5 Q75V66 VAR_023524 p.Cys356Gly Disease - Gnathodiaphyseal dysplasia (GDD) [MIM:166260]
ANO5 Q75V66 VAR_023525 p.Cys356Arg Disease - Gnathodiaphyseal dysplasia (GDD) [MIM:166260]
ANO5 Q75V66 VAR_052339 p.Leu322Phe Polymorphism rs7481951 -
ANO5 Q75V66 VAR_052340 p.Asn882Lys Polymorphism rs34969327 -
ANO5 Q75V66 VAR_063582 p.Gly231Val Disease - Limb-girdle muscular dystrophy type 2L (LGMD2L) [MIM:611307]
ANO5 Q75V66 VAR_063583 p.Arg758Cys Disease - Miyoshi muscular dystrophy type 3 (MMD3) [MIM:613319]
ANO6 Q4KMQ2 VAR_028109 p.Ala128Thr Polymorphism rs2162321 -
ANO7 Q6IWH7 VAR_032616 p.Val67Ile Polymorphism rs2302054 -
ANO7 Q6IWH7 VAR_065166 p.Glu912Lys Polymorphism rs7590653 -
ANO9 A1A5B4 VAR_032617 p.Ile391Val Polymorphism rs10794324 -
ANO9 A1A5B4 VAR_032618 p.Cys399Arg Polymorphism rs10794323 -
ANO9 A1A5B4 VAR_054621 p.Phe93Leu Polymorphism rs7395065 -
ANP32C O43423 VAR_020419 p.Arg71Lys Polymorphism rs2288675 -
ANP32C O43423 VAR_020420 p.Glu204Gly Polymorphism rs2288676 -
ANP32C O43423 VAR_026702 p.Ala23Val Polymorphism rs2288674 -
ANP32C O43423 VAR_026703 p.Tyr140His Polymorphism - -
ANP32C O43423 VAR_048314 p.Leu105Pro Polymorphism rs17008716 -
ANP32D O95626 VAR_027832 p.Leu46Phe Polymorphism rs7956679 -
ANPEP P15144 VAR_006727 p.Asp242Tyr Polymorphism - -
ANPEP P15144 VAR_006728 p.Leu243Pro Polymorphism - -
ANPEP P15144 VAR_014736 p.Arg86Gln Polymorphism rs25653 -
ANPEP P15144 VAR_014737 p.Ser752Asn Polymorphism rs25651 -
ANPEP P15144 VAR_031262 p.Val20Met Polymorphism rs10152474 -
ANPEP P15144 VAR_031263 p.Ala311Val Polymorphism rs17240268 -
ANPEP P15144 VAR_031264 p.Thr321Met Polymorphism rs8179199 -
ANPEP P15144 VAR_031265 p.Ile603Lys Polymorphism rs17240212 -
ANPEP P15144 VAR_031266 p.Ile603Met Polymorphism rs8192297 -
ANTXR1 Q9H6X2 VAR_053015 p.Arg7Lys Polymorphism rs28365986 -
ANTXR1 Q9H6X2 VAR_063146 p.Ala326Thr Unclassified - -
ANTXR2 P58335 VAR_022687 p.Leu45Pro Disease - Infantile systemic hyalinosis (ISH) [MIM:236490]
ANTXR2 P58335 VAR_022688 p.Gly105Asp Disease - Juvenile hyaline fibromatosis (JHF) [MIM:228600]
ANTXR2 P58335 VAR_022689 p.Ile189Thr Disease - Infantile systemic hyalinosis (ISH) [MIM:236490]
ANTXR2 P58335 VAR_022690 p.Cys218Arg Disease - Infantile systemic hyalinosis (ISH) [MIM:236490]
ANTXR2 P58335 VAR_022692 p.Leu329Arg Disease - Juvenile hyaline fibromatosis (JHF) [MIM:228600]
ANTXR2 P58335 VAR_022693 p.Ala357Pro Polymorphism rs12647691 -
ANTXR2 P58335 VAR_022694 p.Tyr381Cys Disease - Juvenile hyaline fibromatosis (JHF) [MIM:228600]
ANTXRL A6NF34 VAR_042963 p.Pro547Arg Polymorphism rs7091749 -
ANUBL1 Q86XD8 VAR_053773 p.Lys118Thr Polymorphism rs17854567 -
ANUBL1 Q86XD8 VAR_053774 p.His358Tyr Polymorphism rs12267385 -
ANUBL1 Q86XD8 VAR_062163 p.Thr523Ala Polymorphism rs34082391 -
ANXA10 Q9UJ72 VAR_030786 p.Met71Leu Polymorphism rs6836994 -
ANXA11 P50995 VAR_012006 p.Arg230Cys Polymorphism rs1049550 -
ANXA11 P50995 VAR_012007 p.Ile457Val Polymorphism rs1802932 -
ANXA11 P50995 VAR_048259 p.Arg191Gln Polymorphism rs2229554 -
ANXA13 P27216 VAR_055501 p.Arg86His Polymorphism rs2294013 -
ANXA13 P27216 VAR_055502 p.Val108Ile Polymorphism rs6995099 -
ANXA13 P27216 VAR_055503 p.Val272Ile Polymorphism rs2294015 -
ANXA2 P07355 VAR_012982 p.Val98Leu Polymorphism - -
ANXA3 P12429 VAR_013914 p.Ser19Asn Polymorphism rs5951 -
ANXA3 P12429 VAR_013915 p.Ile219Asn Polymorphism rs5948 -
ANXA3 P12429 VAR_013916 p.Pro251Leu Polymorphism rs5949 -
ANXA3 P12429 VAR_013917 p.Phe291Ser Polymorphism rs5941 -
ANXA4 P09525 VAR_055500 p.Thr85Met Polymorphism rs2228203 -
ANXA7 P20073 VAR_048253 p.Arg441Gln Polymorphism rs3750575 -
ANXA8 P13928 VAR_000604 p.Ser6Ala Polymorphism - -
ANXA8 P13928 VAR_030630 p.Gly177Ala Polymorphism rs3013886 -
ANXA8L2 Q5VT79 VAR_048254 p.Ala177Gly Polymorphism rs3013886 -
ANXA9 O76027 VAR_022814 p.Asp166Gly Polymorphism rs267733 -
ANXA9 O76027 VAR_031212 p.Arg225Gln Polymorphism rs7542365 -
ANXA9 O76027 VAR_048255 p.Ala28Thr Polymorphism rs16832595 -
ANXA9 O76027 VAR_048256 p.Thr114Ala Polymorphism rs7536645 -
ANXA9 O76027 VAR_048257 p.Ala119Thr Polymorphism rs16832602 -
ANXA9 O76027 VAR_048258 p.Arg232Gln Polymorphism rs7542365 -
AOAH P28039 VAR_020133 p.Ala166Thr Polymorphism rs3735384 -
AOAH P28039 VAR_033513 p.Ala266Gly Polymorphism rs3735386 -
AOAH P28039 VAR_050663 p.Asp28Asn Polymorphism rs11976480 -
AOC2 O75106 VAR_025022 p.Ile5Val Polymorphism rs34230945 -
AOC2 O75106 VAR_025023 p.Tyr22Cys Polymorphism rs34435306 -
AOC2 O75106 VAR_025024 p.Pro141Leu Polymorphism rs35833794 -
AOC2 O75106 VAR_025025 p.Arg273Gln Polymorphism rs35508987 -
AOC2 O75106 VAR_025026 p.Glu427Asp Polymorphism rs34351794 -
AOC3 Q16853 VAR_012064 p.Tyr317His Polymorphism rs438287 -
AOC3 Q16853 VAR_024343 p.Arg329Gln Polymorphism rs2229595 -
AOC3 Q16853 VAR_025027 p.His167Tyr Polymorphism rs2228470 -
AOC3 Q16853 VAR_025028 p.Ile371Thr Polymorphism rs35097308 -
AOC3 Q16853 VAR_025029 p.Ala408Ser Polymorphism rs35643019 -
AOC3 Q16853 VAR_025030 p.Arg426His Polymorphism rs33986943 -
AOC3 Q16853 VAR_025031 p.Arg441Trp Polymorphism rs2229596 -
AOC3 Q16853 VAR_025032 p.Ala582Thr Polymorphism rs34987927 -
AOC3 Q16853 VAR_025033 p.Gly700Ser Polymorphism rs477207 -
AOC3 Q16853 VAR_025034 p.Ala749Val Polymorphism rs34012919 -
AOC3 Q16853 VAR_025035 p.Thr5Arg Polymorphism rs33954211 -
AOC3 Q16853 VAR_052603 p.Arg78Gln Polymorphism rs402680 -
AOC3 Q16853 VAR_052604 p.Val171Met Polymorphism rs408038 -
AOC3 Q16853 VAR_052605 p.His203Arg Polymorphism rs630079 -
AOPEP Q8N6M6 VAR_021511 p.Val179Ala Polymorphism rs16911679 -
AOPEP Q8N6M6 VAR_057053 p.Val179Ile Polymorphism rs16911679 -
AOPEP Q8N6M6 VAR_057054 p.Arg255Gln Polymorphism rs16911681 -
AOPEP Q8N6M6 VAR_057055 p.Arg386Cys Polymorphism rs34557833 -
AOX1 Q06278 VAR_047517 p.Arg802Cys Polymorphism rs41309768 -
AOX1 Q06278 VAR_047518 p.His1297Arg Polymorphism rs3731722 -
AOX1 Q06278 VAR_061136 p.Gln314Arg Polymorphism rs58185012 -
AP1AR Q63HQ0 VAR_050769 p.Thr297Ile Polymorphism rs34900583 -
AP1B1 Q10567 VAR_062816 p.Thr777Ala Polymorphism rs2857465 -
AP1G1 O43747 VAR_013572 p.Pro685His Polymorphism rs904763 -
AP1G1 O43747 VAR_048194 p.Val195Gly Polymorphism rs36037071 -
AP1G2 O75843 VAR_024363 p.Ser377Phe Polymorphism rs12897422 -
AP1M1 Q9BXS5 VAR_036536 p.Arg303Gln Unclassified - A breast cancer sample
AP2A1 O95782 VAR_060544 p.Pro270Leu Polymorphism rs17851121 -
AP3B1 O00203 VAR_011596 p.Leu580Arg Disease - Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233]
AP3B1 O00203 VAR_058404 p.Val585Glu Polymorphism rs6453373 -
AP3D1 O14617 VAR_033517 p.Gly541Arg Polymorphism rs34569645 -
AP3D1 O14617 VAR_033518 p.Ile1072Val Polymorphism rs25673 -
AP3S1 Q92572 VAR_059111 p.Pro158Leu Polymorphism rs7733604 -
AP4B1 Q9Y6B7 VAR_030804 p.Leu480Ser Polymorphism rs1217401 -
AP4E1 Q9UPM8 VAR_031621 p.Cys163Arg Polymorphism rs2306331 -
APBA1 Q02410 VAR_050664 p.Ser184Ala Polymorphism rs34788368 -
APBA2 Q99767 VAR_050665 p.Leu311Pro Polymorphism rs8040932 -
APBA3 O96018 VAR_011822 p.Ile527Phe Polymorphism rs1045236 -
APBA3 O96018 VAR_020134 p.Lys276Thr Polymorphism rs3746119 -
APBA3 O96018 VAR_047952 p.Cys376Arg Polymorphism rs8102086 -
APBA3 O96018 VAR_050666 p.Trp154Leu Polymorphism rs35932323 -
APBB1 O00213 VAR_014444 p.Met327Val Polymorphism rs1800423 -
APBB1 O00213 VAR_014445 p.Asn396Ser Polymorphism rs1800425 -
APBB1IP Q7Z5R6 VAR_050098 p.Thr404Ala Polymorphism rs34081356 -
APBB1IP Q7Z5R6 VAR_059447 p.Ala617Thr Polymorphism rs7903226 -
APBB3 O95704 VAR_024702 p.Cys231Arg Polymorphism rs250430 -
APBB3 O95704 VAR_029518 p.Gly165Arg Polymorphism rs7715021 -
APC P25054 VAR_005032 p.Ser171Ile Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_005033 p.Arg414Cys Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_005034 p.Ser784Thr Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_005035 p.Gly817Cys Disease - Gastric cancer (GASC) [MIM:613659]
APC P25054 VAR_005036 p.Ile880Thr Disease - Gastric cancer (GASC) [MIM:613659]
APC P25054 VAR_005036 p.Ile880Thr Unclassified - Colorectal carcinoma
APC P25054 VAR_005037 p.Ser906Tyr Unclassified - Colorectal tumor
APC P25054 VAR_005038 p.Glu911Gly Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_005039 p.Asn942Asp Disease - Gastric cancer (GASC) [MIM:613659]
APC P25054 VAR_005040 p.Tyr1027Cys Unclassified - Colorectal tumor
APC P25054 VAR_005041 p.Asn1118Asp Polymorphism - -
APC P25054 VAR_005042 p.Gly1120Glu Disease rs28933379 Gastric cancer (GASC) [MIM:613659]
APC P25054 VAR_005043 p.Arg1171His Disease - Gastric cancer (GASC) [MIM:613659]
APC P25054 VAR_005044 p.Pro1176Leu Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_005045 p.Phe1197Ser Disease - Gastric cancer (GASC) [MIM:613659]
APC P25054 VAR_005046 p.Ile1259Thr Disease - Gastric cancer (GASC) [MIM:613659]
APC P25054 VAR_005047 p.Thr1292Met Polymorphism - -
APC P25054 VAR_005048 p.Ile1304Val Polymorphism - -
APC P25054 VAR_005049 p.Ile1307Lys Polymorphism rs1801155 -
APC P25054 VAR_005050 p.Gly1312Glu Disease - Gastric cancer (GASC) [MIM:613659]
APC P25054 VAR_005051 p.Thr1313Ala Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_005052 p.Val1326Ala Disease - Gastric cancer (GASC) [MIM:613659]
APC P25054 VAR_005053 p.Arg1348Trp Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_005054 p.Asp1422His Unclassified - Colorectal tumor
APC P25054 VAR_005055 p.Gly2502Ser Polymorphism rs2229995 -
APC P25054 VAR_005056 p.Ser2621Cys Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_005057 p.Leu2839Phe Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_008992 p.Arg1171Cys Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_008993 p.Val1822Asp Polymorphism rs459552 -
APC P25054 VAR_008994 p.Ile2738Thr Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_009613 p.Arg99Trp Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_009614 p.Ser722Gly Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_009615 p.Glu1057Gly Unclassified - -
APC P25054 VAR_009616 p.Ala1184Pro Disease - Familial adenomatous polyposis (FAP) [MIM:175100]
APC P25054 VAR_009617 p.Glu1317Gln Polymorphism rs1801166 -
APC P25054 VAR_012975 p.Val890Ile Unclassified - Colorectal carcinoma
APC P25054 VAR_012976 p.Ala1508Val Unclassified - Colorectal carcinoma from a patient with MMRCS
APC P25054 VAR_017653 p.Ala1296Val Disease - Medulloblastoma (MDB) [MIM:155255]
APC P25054 VAR_017654 p.Val1472Ile Disease - Medulloblastoma (MDB) [MIM:155255]
APC P25054 VAR_017655 p.Ser1495Gly Disease - Medulloblastoma (MDB) [MIM:155255]
APC P25054 VAR_020141 p.Thr1496Ser Polymorphism rs2229996 -
APC P25054 VAR_020142 p.Ser1973Thr Polymorphism rs4987109 -
APC P25054 VAR_035794 p.Ile1254Phe Unclassified - A colorectal cancer sample
APC P25054 VAR_053976 p.Pro870Ser Polymorphism rs33974176 -
APC P25054 VAR_053977 p.Arg1882Thr Polymorphism rs34157245 -
APC P25054 VAR_053978 p.Val2499Leu Polymorphism rs33941929 -
APC P25054 VAR_065133 p.Ser1395Cys Unclassified - -
APC2 O95996 VAR_037703 p.Ala562Ser Unclassified - A breast cancer sample
APC2 O95996 VAR_037704 p.Gly2003Ser Unclassified - A breast cancer sample
APC2 O95996 VAR_037705 p.Ser2241Ala Polymorphism rs265277 -
APCDD1 Q8J025 VAR_050667 p.Val150Ile Polymorphism rs3748415 -
APCDD1 Q8J025 VAR_063497 p.Leu9Arg Disease - Hypotrichosis type 1 (HYPT1) [MIM:605389]
APCDD1L Q8NCL9 VAR_029625 p.Cys30Arg Polymorphism rs3946003 -
APCDD1L Q8NCL9 VAR_029626 p.Tyr80His Polymorphism rs7265854 -
APCDD1L Q8NCL9 VAR_029627 p.Arg261Cys Polymorphism rs16981999 -
APCDD1L Q8NCL9 VAR_050668 p.Arg83Gln Polymorphism rs7265902 -
APCS P02743 VAR_006054 p.Glu155Gly Polymorphism - -
APCS P02743 VAR_006055 p.Ser158Gly Polymorphism - -
APCS P02743 VAR_035814 p.Gly141Ser Unclassified - A breast cancer sample
APEH P13798 VAR_051580 p.Thr541Met Polymorphism rs3816877 -
APEX1 P27695 VAR_013455 p.Gln51His Polymorphism rs1048945 -
APEX1 P27695 VAR_014823 p.Ile64Val Polymorphism rs2307486 -
APEX1 P27695 VAR_019790 p.Asp148Glu Polymorphism rs1130409 -
APEX2 Q9UBZ4 VAR_023390 p.Arg141Cys Polymorphism rs2301416 -
APEX2 Q9UBZ4 VAR_048261 p.Arg141Trp Polymorphism rs2301416 -
APEX2 Q9UBZ4 VAR_064033 p.His269Tyr Unclassified - -
APEX2 Q9UBZ4 VAR_064034 p.Asn392His Unclassified - -
APH1B Q8WW43 VAR_048315 p.Phe217Leu Polymorphism rs1047552 -
API5 Q9BZZ5 VAR_021519 p.Pro276Ser Polymorphism - -
API5 Q9BZZ5 VAR_021520 p.Met300Val Polymorphism rs5743240 -
API5 Q9BZZ5 VAR_021521 p.Gly493Ser Polymorphism rs2862934 -
APIP Q96GX9 VAR_026575 p.Arg7Trp Polymorphism rs2956114 -
APIP Q96GX9 VAR_026576 p.His23Arg Polymorphism rs17850326 -
APIP Q96GX9 VAR_026577 p.Cys76Tyr Polymorphism rs1977420 -
APIP Q96GX9 VAR_026578 p.Met181Val Polymorphism rs17850327 -
APLF Q8IW19 VAR_032299 p.Ile100Val Polymorphism rs11902811 -
APLF Q8IW19 VAR_032300 p.Leu336Phe Polymorphism rs13404469 -
APLF Q8IW19 VAR_061557 p.Ser224Thr Polymorphism rs35002937 -
APLNR P35414 VAR_049375 p.Val300Ile Polymorphism rs7943508 -
APLP2 Q06481 VAR_022039 p.Asp632Asn Polymorphism rs3740881 -
APMAP Q9HDC9 VAR_014128 p.Ile65Val Polymorphism rs17298715 -
APMAP Q9HDC9 VAR_055039 p.Arg282Gln Polymorphism rs35097515 -
APMAP Q9HDC9 VAR_055040 p.Arg374Trp Polymorphism rs28364786 -
APOA1 P02647 VAR_000605 p.Pro27His Unclassified - -
APOA1 P02647 VAR_000606 p.Pro27Arg Polymorphism - -
APOA1 P02647 VAR_000607 p.Pro28Arg Unclassified - -
APOA1 P02647 VAR_000608 p.Arg34Leu Polymorphism rs28929476 -
APOA1 P02647 VAR_000609 p.Gly50Arg Disease rs28931574 Amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA)
APOA1 P02647 VAR_000610 p.Leu84Arg Disease - Amyloidosis type 8 (AMYL8) [MIM:105200]
APOA1 P02647 VAR_000611 p.Asp113Glu Polymorphism - -
APOA1 P02647 VAR_000612 p.Ala119Asp Unclassified - -
APOA1 P02647 VAR_000613 p.Asp127Asn Unclassified - -
APOA1 P02647 VAR_000615 p.Lys131Met Polymorphism rs4882 -
APOA1 P02647 VAR_000616 p.Trp132Arg Unclassified - -
APOA1 P02647 VAR_000617 p.Glu134Lys Unclassified - -
APOA1 P02647 VAR_000618 p.Glu160Lys Unclassified - -
APOA1 P02647 VAR_000619 p.Glu163Gly Polymorphism - -
APOA1 P02647 VAR_000620 p.Pro167Arg Unclassified - -
APOA1 P02647 VAR_000621 p.Leu168Arg Unclassified - -
APOA1 P02647 VAR_000622 p.Glu171Val Polymorphism - -
APOA1 P02647 VAR_000623 p.Pro189Arg Polymorphism - -
APOA1 P02647 VAR_000624 p.Arg197Cys Polymorphism rs28931573 -
APOA1 P02647 VAR_000625 p.Glu222Lys Unclassified - -
APOA1 P02647 VAR_014609 p.Arg184Pro Polymorphism rs5078 -
APOA1 P02647 VAR_016189 p.Asp126His Polymorphism rs5077 -
APOA1 P02647 VAR_017017 p.Thr92Ile Polymorphism - -
APOA1 P02647 VAR_021362 p.Val180Glu Unclassified - -
APOA1 P02647 VAR_025445 p.Ala61Thr Polymorphism - -
APOA1BP Q8NCW5 VAR_032992 p.Val19Leu Polymorphism rs7516274 -
APOA4 P06727 VAR_000626 p.Val13Met Polymorphism - -
APOA4 P06727 VAR_000627 p.Glu44Lys Unclassified - -
APOA4 P06727 VAR_000628 p.Asn147Ser Polymorphism rs5104 -
APOA4 P06727 VAR_000629 p.Ala161Ser Unclassified - -
APOA4 P06727 VAR_000630 p.Ser178Leu Unclassified - -
APOA4 P06727 VAR_000631 p.Glu185Lys Polymorphism - -
APOA4 P06727 VAR_000632 p.Lys187Glu Polymorphism - -
APOA4 P06727 VAR_000633 p.Glu250Lys Polymorphism - -
APOA4 P06727 VAR_000634 p.Arg264Gln Polymorphism rs2238008 -
APOA4 P06727 VAR_000635 p.Arg305Cys Unclassified - -
APOA4 P06727 VAR_000636 p.Thr367Ser Polymorphism rs675 -
APOA4 P06727 VAR_000637 p.Gln380His Polymorphism rs5110 -
APOA4 P06727 VAR_014610 p.Gly74Ser Polymorphism rs5102 -
APOA4 P06727 VAR_014611 p.Val307Leu Polymorphism rs5108 -
APOA4 P06727 VAR_025443 p.Arg279Lys Polymorphism rs1042372 -
APOA4 P06727 VAR_025444 p.Gln77His Polymorphism - -
APOA5 Q6Q788 VAR_021165 p.Ser19Trp Polymorphism rs3135506 -
APOA5 Q6Q788 VAR_021166 p.Val153Met Polymorphism rs3135507 -
APOA5 Q6Q788 VAR_021167 p.Gly185Cys Polymorphism rs2075291 -
APOA5 Q6Q788 VAR_035124 p.Asp37Glu Polymorphism rs34282181 -
APOB P04114 VAR_005016 p.Phe1437Leu Polymorphism rs1801697 -
APOB P04114 VAR_005017 p.Asn1914Ser Polymorphism rs1801699 -
APOB P04114 VAR_005018 p.His1923Arg Polymorphism rs533617 -
APOB P04114 VAR_005019 p.Glu2566Lys Polymorphism rs1801696 -
APOB P04114 VAR_005020 p.Pro2739Leu Polymorphism rs676210 -
APOB P04114 VAR_005021 p.Ala3121Thr Polymorphism rs1801694 -
APOB P04114 VAR_005022 p.Asp3319His Polymorphism - -
APOB P04114 VAR_005023 p.Thr3427Lys Polymorphism - -
APOB P04114 VAR_005024 p.Gln3432Glu Polymorphism rs1042023 -
APOB P04114 VAR_005025 p.Arg3527Gln Disease rs5742904 Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]
APOB P04114 VAR_005026 p.Arg3558Cys Disease rs12713559 Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]
APOB P04114 VAR_005027 p.Val3921Ile Polymorphism - -
APOB P04114 VAR_005028 p.Thr3945Ala Polymorphism rs1801698 -
APOB P04114 VAR_005029 p.Val4128Met Polymorphism rs1801703 -
APOB P04114 VAR_005030 p.Ser4338Asn Polymorphism rs1042034 -
APOB P04114 VAR_005031 p.Ala4481Thr Polymorphism rs1801695 -
APOB P04114 VAR_016184 p.Thr98Ile Polymorphism rs1367117 -
APOB P04114 VAR_016185 p.Val733Ile Polymorphism rs1800476 -
APOB P04114 VAR_016186 p.Arg3638Gln Polymorphism rs1801701 -
APOB P04114 VAR_016187 p.Glu4181Lys Polymorphism rs1042031 -
APOB P04114 VAR_016188 p.Arg4270Thr Polymorphism rs1801702 -
APOB P04114 VAR_019827 p.Lys273Asn Polymorphism rs1126419 -
APOB P04114 VAR_019828 p.Ala618Val Polymorphism rs679899 -
APOB P04114 VAR_019829 p.Gln1218Glu Polymorphism rs1041956 -
APOB P04114 VAR_019830 p.Leu2092Val Polymorphism rs1041960 -
APOB P04114 VAR_019831 p.Ala2365Thr Polymorphism rs1041971 -
APOB P04114 VAR_019832 p.Leu2680Gln Polymorphism rs1042013 -
APOB P04114 VAR_019833 p.Ile3732Thr Polymorphism rs1042025 -
APOB P04114 VAR_019834 p.Phe3949Leu Polymorphism rs1042027 -
APOB P04114 VAR_019835 p.Tyr3964Phe Polymorphism rs1126468 -
APOB P04114 VAR_020135 p.Pro554Leu Polymorphism rs12714214 -
APOB P04114 VAR_020136 p.Val730Ile Polymorphism rs12691202 -
APOB P04114 VAR_020137 p.Thr741Asn Polymorphism rs12714192 -
APOB P04114 VAR_020138 p.Ala2456Asp Polymorphism rs12713675 -
APOB P04114 VAR_020139 p.Ser3294Pro Polymorphism rs12720855 -
APOB P04114 VAR_020140 p.Thr4484Met Polymorphism rs12713450 -
APOB P04114 VAR_022036 p.Tyr103His Polymorphism rs9282603 -
APOB P04114 VAR_022037 p.Pro145Ser Polymorphism rs6752026 -
APOB P04114 VAR_022038 p.Asn2785His Polymorphism rs2163204 -
APOB P04114 VAR_022610 p.Arg490Trp Disease - Familial hypobetalipoproteinemia type 1 (FHBL1) [MIM:107730]
APOB P04114 VAR_022611 p.Arg1128His Polymorphism rs12713843 -
APOB P04114 VAR_029341 p.Ile408Thr Polymorphism rs12714225 -
APOB P04114 VAR_029342 p.Pro877Leu Polymorphism rs12714097 -
APOB P04114 VAR_029343 p.Gly1086Ser Polymorphism rs12720801 -
APOB P04114 VAR_029344 p.Asp1113His Polymorphism rs12713844 -
APOB P04114 VAR_029345 p.Arg1388His Polymorphism rs13306187 -
APOB P04114 VAR_029346 p.Asp2299His Polymorphism rs12713681 -
APOB P04114 VAR_029347 p.His3182Asn Polymorphism rs12720848 -
APOB P04114 VAR_029348 p.Ser3279Gly Polymorphism rs12720854 -
APOB P04114 VAR_029349 p.Ser3801Thr Polymorphism rs12713540 -
APOB P04114 VAR_029350 p.Val4394Ala Polymorphism rs12720843 -
APOB P04114 VAR_035795 p.Phe2564Cys Unclassified - A colorectal cancer sample
APOB P04114 VAR_056737 p.Thr194Met Polymorphism rs13306198 -
APOB P04114 VAR_056738 p.Pro955Ser Polymorphism rs13306206 -
APOB P04114 VAR_059582 p.Ile2313Val Polymorphism rs584542 -
APOB P04114 VAR_061558 p.Tyr1422Cys Polymorphism rs568413 -
APOBEC1 P41238 VAR_013779 p.Met80Ile Polymorphism rs2302515 -
APOBEC1 P41238 VAR_048720 p.Arg236Lys Polymorphism rs12820011 -
APOBEC2 Q9Y235 VAR_024406 p.Ile136Thr Polymorphism rs2076472 -
APOBEC3A P31941 VAR_048721 p.Thr19Ala Polymorphism rs17000556 -
APOBEC3B Q9UH17 VAR_018142 p.Lys62Glu Polymorphism rs2076109 -
APOBEC3B Q9UH17 VAR_018143 p.Pro98Leu Polymorphism rs2076110 -
APOBEC3B Q9UH17 VAR_018144 p.Thr146Lys Polymorphism rs5995649 -
APOBEC3B Q9UH17 VAR_033455 p.Ser109Ala Polymorphism rs17000697 -
APOBEC3B Q9UH17 VAR_048722 p.Arg351His Polymorphism rs1053813 -
APOBEC3F Q8IUX4 VAR_018145 p.Gln61Leu Polymorphism rs2076109 -
APOBEC3F Q8IUX4 VAR_018146 p.Pro97Leu Polymorphism rs2076110 -
APOBEC3F Q8IUX4 VAR_018147 p.Ala108Ser Polymorphism rs2020390 -
APOBEC3F Q8IUX4 VAR_018148 p.Val231Ile Polymorphism rs2076101 -
APOBEC3F Q8IUX4 VAR_025058 p.Ala178Thr Polymorphism rs34182094 -
APOBEC3F Q8IUX4 VAR_025059 p.Tyr307Cys Polymorphism rs12157816 -
APOBEC3F Q8IUX4 VAR_038355 p.Arg48Pro Polymorphism rs35053197 -
APOBEC3G Q9HC16 VAR_017837 p.His186Arg Polymorphism rs8177832 -
APOBEC3G Q9HC16 VAR_025060 p.Gln275Glu Polymorphism rs17496046 -
APOBEC3G Q9HC16 VAR_048723 p.Arg256His Polymorphism rs17000736 -
APOBEC3H Q6NTF7 VAR_032835 p.Arg18Leu Polymorphism rs139293 -
APOBEC3H Q6NTF7 VAR_032836 p.Gly105Arg Polymorphism rs139297 -
APOBEC3H Q6NTF7 VAR_032837 p.Lys121Glu Polymorphism rs139298 -
APOBEC3H Q6NTF7 VAR_032838 p.Lys121Asn Polymorphism rs139299 -
APOBEC3H Q6NTF7 VAR_032839 p.Glu178Asp Polymorphism rs139302 -
APOBEC4 Q8WW27 VAR_026639 p.Ser75Phe Polymorphism rs16861394 -
APOBEC4 Q8WW27 VAR_026640 p.Phe271Ser Polymorphism rs1174658 -
APOBEC4 Q8WW27 VAR_026641 p.Pro275Ser Polymorphism rs10911391 -
APOBEC4 Q8WW27 VAR_026642 p.Lys331Glu Polymorphism rs1174657 -
APOBEC4 Q8WW27 VAR_026643 p.Val345Met Polymorphism rs10911390 -
APOBEC4 Q8WW27 VAR_048724 p.Asp300Gly Polymorphism rs16861381 -
APOBR Q0VD83 VAR_042432 p.Ala419Pro Polymorphism rs180743 -
APOC1 P02654 VAR_014183 p.Ile16Met Polymorphism rs5112 -
APOC1 P02654 VAR_029011 p.Thr71Ser Polymorphism - -
APOC2 P02655 VAR_000639 p.Lys41Thr Polymorphism - -
APOC2 P02655 VAR_000640 p.Trp48Arg Disease - Hyperlipoproteinemia type 1B (HLPP1B) [MIM:207750]
APOC2 P02655 VAR_000641 p.Glu60Lys Polymorphism rs5122 -
APOC2 P02655 VAR_000642 p.Lys77Gln Polymorphism rs5126 -
APOC3 P02656 VAR_000643 p.Lys78Glu Disease - Hyperalphalipoproteinemia type 2 (HALP2) [MIM:614028]
APOC3 P02656 VAR_000644 p.Thr94Ala Unclassified - -
APOC4 P55056 VAR_012068 p.Leu96Arg Polymorphism rs5167 -
APOC4 P55056 VAR_012069 p.Gln126Leu Polymorphism rs5168 -
APOC4 P55056 VAR_012081 p.Leu36Pro Polymorphism rs1132899 -
APOC4 P55056 VAR_012082 p.Gly52Asp Polymorphism - -
APOC4 P55056 VAR_036540 p.Pro75Gln Unclassified - A breast cancer sample
APOD P05090 VAR_011931 p.Phe15Ser Polymorphism rs5952 -
APOD P05090 VAR_011932 p.Ser115Leu Polymorphism rs5954 -
APOD P05090 VAR_011933 p.Thr178Lys Polymorphism rs5955 -
APOE P02649 VAR_000645 p.Glu21Lys Polymorphism - -
APOE P02649 VAR_000646 p.Glu31Lys Disease - Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
APOE P02649 VAR_000647 p.Leu46Pro Polymorphism rs769452 -
APOE P02649 VAR_000648 p.Thr60Ala Polymorphism rs28931576 -
APOE P02649 VAR_000649 p.Gln99Lys Polymorphism - -
APOE P02649 VAR_000650 p.Pro102Arg Polymorphism rs28931578 -
APOE P02649 VAR_000651 p.Ala117Thr Polymorphism rs28931577 -
APOE P02649 VAR_000652 p.Cys130Arg Disease rs429358 Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
APOE P02649 VAR_000653 p.Gly145Asp Polymorphism - -
APOE P02649 VAR_000655 p.Arg152Gln Polymorphism rs28931578 -
APOE P02649 VAR_000656 p.Arg154Ser Disease - Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
APOE P02649 VAR_000657 p.Arg154Cys Disease - Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
APOE P02649 VAR_000658 p.Arg160Cys Disease - Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
APOE P02649 VAR_000659 p.Arg163Cys Disease rs769455 Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
APOE P02649 VAR_000660 p.Arg163His Unclassified - -
APOE P02649 VAR_000661 p.Lys164Gln Disease - Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
APOE P02649 VAR_000662 p.Lys164Glu Disease - Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
APOE P02649 VAR_000663 p.Ala170Pro Polymorphism - -
APOE P02649 VAR_000664 p.Arg176Cys Disease rs7412 Hyperlipoproteinemia type 3 (HLPP3) [MIM:107741]
APOE P02649 VAR_000665 p.Arg242Gln Polymorphism - -
APOE P02649 VAR_000666 p.Arg246Cys Polymorphism - -
APOE P02649 VAR_000667 p.Val254Glu Polymorphism - -
APOE P02649 VAR_000669 p.Arg269Gly Polymorphism - -
APOE P02649 VAR_000670 p.Leu270Glu Polymorphism - -
APOE P02649 VAR_000671 p.Arg292His Polymorphism - -
APOE P02649 VAR_000672 p.Ser314Arg Polymorphism rs28931579 -
APOE P02649 VAR_014114 p.Gln64His Polymorphism - -
APOE P02649 VAR_016789 p.Ala124Val Polymorphism - -
APOE P02649 VAR_042734 p.Arg43Cys Disease - Lipoprotein glomerulopathy (LPG) [MIM:611771]
APOE P02649 VAR_042735 p.Arg163Pro Disease - Lipoprotein glomerulopathy (LPG) [MIM:611771]
APOF Q13790 VAR_055520 p.Ala178Gly Polymorphism rs11575216 -
APOH P02749 VAR_000673 p.Val266Leu Polymorphism rs4581 -
APOH P02749 VAR_008169 p.Ser107Asn Polymorphism rs1801692 -
APOH P02749 VAR_008170 p.Cys325Gly Polymorphism rs1801689 -
APOH P02749 VAR_008171 p.Trp335Ser Polymorphism rs1801690 -
APOH P02749 VAR_019155 p.Arg154His Polymorphism rs8178847 -
APOH P02749 VAR_048316 p.Val5Ala Polymorphism rs3826358 -
APOL1 O14791 VAR_011383 p.Glu150Lys Polymorphism rs2239785 -
APOL1 O14791 VAR_011384 p.Met228Ile Polymorphism rs136175 -
APOL1 O14791 VAR_011385 p.Arg255Lys Polymorphism rs136176 -
APOL1 O14791 VAR_036568 p.Ile188Thr Unclassified - A breast cancer sample
APOL1 O14791 VAR_046641 p.Asp337Asn Polymorphism rs16996616 -
APOL1 O14791 VAR_061995 p.Ile384Met Disease rs60910145 Focal segmental glomerulosclerosis type 4 (FSGS4) [MIM:612551]
APOL1 O14791 VAR_063598 p.Ser342Gly Disease rs73885319 Focal segmental glomerulosclerosis type 4 (FSGS4) [MIM:612551]
APOL2 Q9BQE5 VAR_012978 p.Ile245Val Polymorphism rs132760 -
APOL2 Q9BQE5 VAR_024366 p.Arg182Cys Polymorphism rs7285167 -
APOL3 O95236 VAR_047488 p.Ala135Val Polymorphism rs6000152 -
APOL3 O95236 VAR_053007 p.Ser39Arg Polymorphism rs132653 -
APOL4 Q9BPW4 VAR_053008 p.Ile9Val Polymorphism rs132736 -
APOL4 Q9BPW4 VAR_053009 p.Val12Leu Polymorphism rs80587 -
APOL4 Q9BPW4 VAR_053010 p.Met159Val Polymorphism rs132700 -
APOL4 Q9BPW4 VAR_059966 p.Arg223His Polymorphism rs2227168 -
APOL4 Q9BPW4 VAR_059967 p.Ala319Glu Polymorphism rs6000173 -
APOL4 Q9BPW4 VAR_059968 p.Ser326Leu Polymorphism rs6000172 -
APOL5 Q9BWW9 VAR_020355 p.Thr272Met Polymorphism rs2076671 -
APOL5 Q9BWW9 VAR_020356 p.Thr323Met Polymorphism rs2076672 -
APOL5 Q9BWW9 VAR_020357 p.Ser406Cys Polymorphism rs2076673 -
APOL5 Q9BWW9 VAR_053012 p.Glu81Lys Polymorphism rs5999985 -
APOL6 Q9BWW8 VAR_053013 p.Asn173Lys Polymorphism rs5999923 -
APOPT1 Q96IL0 VAR_023000 p.Pro27Ala Polymorphism rs2274268 -
APOPT1 Q96IL0 VAR_033745 p.Asn88Ser Polymorphism rs35960830 -
APP P05067 VAR_000016 p.Ala692Gly Disease - Alzheimer disease type 1 (AD1) [MIM:104300]
APP P05067 VAR_000017 p.Glu693Gln Disease - Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714]
APP P05067 VAR_000018 p.Ala713Val Polymorphism rs1800557 -
APP P05067 VAR_000019 p.Ala713Thr Disease - Alzheimer disease type 1 (AD1) [MIM:104300]
APP P05067 VAR_000020 p.Ile716Val Disease - Alzheimer disease type 1 (AD1) [MIM:104300]
APP P05067 VAR_000021 p.Val717Ile Disease - Alzheimer disease type 1 (AD1) [MIM:104300]
APP P05067 VAR_000022 p.Val717Gly Disease - Alzheimer disease type 1 (AD1) [MIM:104300]
APP P05067 VAR_000023 p.Val717Phe Disease - Alzheimer disease type 1 (AD1) [MIM:104300]
APP P05067 VAR_010107 p.Glu665Asp Unclassified - -
APP P05067 VAR_010108 p.Val715Met Disease - Alzheimer disease type 1 (AD1) [MIM:104300]
APP P05067 VAR_010109 p.Leu723Pro Disease - Alzheimer disease type 1 (AD1) [MIM:104300]
APP P05067 VAR_014215 p.Glu693Gly Disease - Alzheimer disease type 1 (AD1) [MIM:104300]
APP P05067 VAR_014216 p.Glu693Lys Disease - Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714]
APP P05067 VAR_014217 p.Asp694Asn Disease - Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714]
APP P05067 VAR_014218 p.Thr714Ile Disease - Alzheimer disease type 1 (AD1) [MIM:104300]
APP P05067 VAR_014219 p.Val717Leu Disease - Alzheimer disease type 1 (AD1) [MIM:104300]
APP P05067 VAR_022315 p.Glu501Lys Polymorphism rs45588932 -
APP P05067 VAR_032276 p.Leu705Val Disease - Cerebral amyloid angiopathy APP-related (CAA-APP) [MIM:605714]
APP P05067 VAR_032277 p.Thr714Ala Disease - Alzheimer disease type 1 (AD1) [MIM:104300]
APP P05067 VAR_044424 p.Asp678Asn Disease - Alzheimer disease type 1 (AD1) [MIM:104300]
APPBP2 Q92624 VAR_052606 p.Ser561Asn Polymorphism rs34146848 -
APPL1 Q9UKG1 VAR_035909 p.Glu643Gln Unclassified - A breast cancer sample
APPL1 Q9UKG1 VAR_050958 p.Ala108Val Polymorphism rs4381906 -
APPL1 Q9UKG1 VAR_050959 p.Glu700Gly Polymorphism rs11544593 -
APPL2 Q8NEU8 VAR_021505 p.Ala433Val Polymorphism rs2272495 -
APR3 Q6UW56 VAR_057991 p.Ala209Ser Polymorphism rs7437 -
APRG1 Q8IVJ8 VAR_032538 p.His107Tyr Polymorphism rs17266511 -
APRT P07741 VAR_006747 p.Asp65Val Disease - Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]
APRT P07741 VAR_006748 p.Leu110Pro Disease - Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]
APRT P07741 VAR_006749 p.Met136Thr Disease rs28999113 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]
APRT P07741 VAR_019055 p.Gln121Arg Polymorphism rs8191494 -
APRT P07741 VAR_022608 p.Val150Phe Disease - Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]
APRT P07741 VAR_022609 p.Cys153Arg Disease - Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:102600]
APTX Q7Z2E3 VAR_018794 p.Lys211Gln Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
APTX Q7Z2E3 VAR_018795 p.Ala212Val Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
APTX Q7Z2E3 VAR_018796 p.Arg213His Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
APTX Q7Z2E3 VAR_018797 p.His215Arg Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
APTX Q7Z2E3 VAR_018798 p.Pro220Leu Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
APTX Q7Z2E3 VAR_018799 p.Val277Gly Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
APTX Q7Z2E3 VAR_018800 p.Asp281Gly Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
APTX Q7Z2E3 VAR_018801 p.Trp293Arg Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
APTX Q7Z2E3 VAR_025365 p.Leu237Pro Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]
AQP1 P29972 VAR_004400 p.Ala45Val Polymorphism rs28362692 -
AQP1 P29972 VAR_013279 p.Pro38Leu Unclassified - -
AQP1 P29972 VAR_022318 p.Gly165Asp Polymorphism rs28362731 -
AQP10 Q96PS8 VAR_033519 p.Arg15Gln Polymorphism rs6668968 -
AQP10 Q96PS8 VAR_050063 p.His123Tyr Polymorphism rs6685323 -
AQP11 Q8NBQ7 VAR_020446 p.Gly102Ser Polymorphism rs2276415 -
AQP2 P41181 VAR_004401 p.Gly64Arg Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_004402 p.Arg187Cys Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_004403 p.Ser216Pro Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015239 p.Leu22Val Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015240 p.Leu28Pro Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015241 p.Ala47Val Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015242 p.Asn68Ser Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015243 p.Val71Met Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015244 p.Thr125Met Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015245 p.Thr126Met Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015246 p.Ala147Thr Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015247 p.Val168Met Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015248 p.Gly175Arg Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015249 p.Cys181Trp Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015250 p.Pro185Ala Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015251 p.Ala190Thr Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015252 p.Val194Ile Polymorphism - -
AQP2 P41181 VAR_015253 p.Trp202Cys Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015254 p.Glu258Lys Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015255 p.Pro262Leu Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015256 p.Gln57Pro Disease rs28931580 Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_015257 p.Gly100Val Disease rs28929477 Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_037577 p.Leu121Phe Polymorphism rs11169226 -
AQP2 P41181 VAR_062585 p.Ala70Asp Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_062586 p.Gly100Arg Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_062587 p.Gly180Ser Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_062588 p.Arg187His Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_062589 p.Arg254Leu Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP2 P41181 VAR_062590 p.Arg254Gln Disease - Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
AQP3 Q92482 VAR_025089 p.Val43Met Polymorphism rs34942735 -
AQP6 Q13520 VAR_047233 p.Val234Ile Polymorphism rs17124220 -
AQP7 O14520 VAR_061343 p.Leu38Val Polymorphism rs2381003 -
AQP7 O14520 VAR_061344 p.Lys63Thr Polymorphism rs4008658 -
AQP8 O94778 VAR_021933 p.Ala260Pro Polymorphism rs2287798 -
AQP8 O94778 VAR_036484 p.Ile229Met Unclassified - A breast cancer sample
AQP9 O43315 VAR_024538 p.Thr279Ala Polymorphism rs1867380 -
AQPEP Q6Q4G3 VAR_027059 p.Val640Phe Polymorphism rs17138632 -
AQPEP Q6Q4G3 VAR_027060 p.Leu689Phe Polymorphism rs10078759 -
AQPEP Q6Q4G3 VAR_027061 p.Val936Ile Polymorphism rs17138681 -
AR P10275 VAR_004679 p.Glu2Lys Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004680 p.Leu54Ser Unclassified - Prostate cancer
AR P10275 VAR_004681 p.Leu57Gln Unclassified - Prostate cancer
AR P10275 VAR_004684 p.Arg607Gln Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004685 p.Arg608Lys Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004686 p.Ala645Asp Polymorphism rs1800053 -
AR P10275 VAR_004687 p.Ile664Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004687 p.Ile664Asn Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004688 p.Leu677Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004690 p.Asp695His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004691 p.Asp695Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004692 p.Asp695Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004693 p.Ser703Gly Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004693 p.Ser703Gly Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004694 p.Leu707Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004695 p.Val730Met Unclassified - Prostate cancer
AR P10275 VAR_004696 p.Asp732Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004697 p.Asp732Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004698 p.Met742Ile Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004699 p.Gly743Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004699 p.Gly743Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004700 p.Met749Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004700 p.Met749Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004701 p.Gly750Asp Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004702 p.Arg752Gln Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004703 p.Phe754Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004704 p.Leu762Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004705 p.Tyr763Cys Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004707 p.Ala765Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004708 p.Arg774His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004708 p.Arg774His Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004709 p.Arg774Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004710 p.Arg779Trp Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004711 p.Met780Ile Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004711 p.Met780Ile Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004712 p.Cys784Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004713 p.Met787Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004714 p.Phe794Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004715 p.Gln798Glu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004715 p.Gln798Glu Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004716 p.Met807Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004717 p.Met807Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004718 p.Ser814Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004718 p.Ser814Asn Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004719 p.Arg831Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004720 p.Arg831Gln Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004721 p.Arg840Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004722 p.Arg840Gly Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004723 p.Arg840His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004724 p.Ile842Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004725 p.Arg855Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004726 p.Arg855His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004727 p.Asp864Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004728 p.Val866Glu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004729 p.Val866Leu Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004730 p.Val866Met Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004731 p.Ile869Met Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_004732 p.Thr877Ala Unclassified - Prostate cancer
AR P10275 VAR_004733 p.Pro892Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004734 p.Met895Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004735 p.Leu907Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_004736 p.Pro913Ser Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009224 p.Gln194Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009225 p.Leu255Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009226 p.Pro390Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009227 p.Pro390Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009228 p.Gln443Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009229 p.Arg840Ser Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009711 p.Gln64Arg Unclassified - Prostate cancer
AR P10275 VAR_009712 p.Gln112His Unclassified - Prostate cancer
AR P10275 VAR_009713 p.Lys180Arg Unclassified - Prostate cancer
AR P10275 VAR_009714 p.Ser205Arg Polymorphism - -
AR P10275 VAR_009715 p.Gly214Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009716 p.Met266Thr Unclassified - Prostate cancer
AR P10275 VAR_009717 p.Pro269Ser Unclassified - Prostate cancer
AR P10275 VAR_009718 p.Pro340Leu Unclassified - Prostate cancer
AR P10275 VAR_009719 p.Gly491Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009720 p.Asp528Gly Unclassified - Prostate cancer
AR P10275 VAR_009721 p.Leu547Phe Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009722 p.Pro548Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009723 p.Cys559Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009725 p.Gly568Val Unclassified - -
AR P10275 VAR_009726 p.Gly568Trp Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009727 p.Tyr571Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009728 p.Ala573Asp Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009729 p.Leu574Pro Unclassified - Prostate cancer
AR P10275 VAR_009730 p.Thr575Ala Unclassified - Prostate cancer
AR P10275 VAR_009731 p.Cys576Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009732 p.Cys576Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009733 p.Cys579Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009734 p.Cys579Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009735 p.Lys580Arg Unclassified - Prostate cancer
AR P10275 VAR_009736 p.Val581Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009737 p.Phe582Ser Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009738 p.Phe582Tyr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009740 p.Arg585Lys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009741 p.Ala586Val Unclassified - Prostate cancer
AR P10275 VAR_009742 p.Ala587Ser Unclassified - Prostate cancer
AR P10275 VAR_009743 p.Ala596Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009744 p.Ser597Gly Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009745 p.Ser597Thr Unclassified - -
AR P10275 VAR_009746 p.Cys601Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009747 p.Asp604Tyr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009748 p.Asn610Thr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009749 p.Cys611Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009751 p.Arg615His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009751 p.Arg615His Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009752 p.Arg615Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009753 p.Leu616Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009754 p.Leu616Arg Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009755 p.Arg617Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009755 p.Arg617Pro Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009756 p.Cys619Tyr Unclassified - Prostate cancer
AR P10275 VAR_009757 p.Arg629Gln Unclassified - Prostate cancer
AR P10275 VAR_009758 p.Lys630Thr Unclassified - Prostate cancer
AR P10275 VAR_009760 p.Ser647Asn Unclassified - Prostate cancer
AR P10275 VAR_009761 p.Gln670Arg Unclassified - Prostate cancer
AR P10275 VAR_009762 p.Pro671His Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009763 p.Ile672Thr Unclassified - Prostate cancer
AR P10275 VAR_009764 p.Glu681Lys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009765 p.Gly683Ala Unclassified - Prostate cancer
AR P10275 VAR_009766 p.Val684Ile Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009767 p.Cys686Arg Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009768 p.Ala687Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009769 p.Gly688Glu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009771 p.Leu700Met Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009772 p.Leu701Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009773 p.Leu701His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009774 p.Ser702Ala Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009775 p.Ser703Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009776 p.Asn705Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009777 p.Gly708Ala Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009778 p.Gly708Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009779 p.Arg710Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009780 p.Leu712Phe Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009781 p.Val715Met Unclassified - Prostate cancer
AR P10275 VAR_009782 p.Lys717Glu Unclassified - Prostate cancer
AR P10275 VAR_009783 p.Lys720Glu Unclassified - Prostate cancer
AR P10275 VAR_009784 p.Ala721Thr Unclassified - Prostate cancer
AR P10275 VAR_009785 p.Leu722Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009786 p.Pro723Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009787 p.Gly724Asp Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009788 p.Phe725Leu Unclassified - -
AR P10275 VAR_009789 p.Arg726Leu Unclassified - Prostate cancer
AR P10275 VAR_009790 p.Asn727Lys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009791 p.Leu728Ser Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009792 p.Gln733His Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009793 p.Ile737Thr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009794 p.Trp741Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009795 p.Met742Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009796 p.Leu744Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009797 p.Met745Thr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009798 p.Val746Met Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009799 p.Ala748Asp Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009800 p.Ala748Thr Unclassified - Prostate cancer
AR P10275 VAR_009801 p.Ala748Val Unclassified - Prostate cancer
AR P10275 VAR_009802 p.Met749Ile Unclassified - Prostate cancer
AR P10275 VAR_009803 p.Gly750Ser Unclassified - Prostate cancer
AR P10275 VAR_009804 p.Trp751Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009805 p.Phe754Leu Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009806 p.Thr755Ala Unclassified - Prostate cancer
AR P10275 VAR_009807 p.Asn756Ser Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009808 p.Val757Ala Unclassified - Prostate cancer
AR P10275 VAR_009809 p.Asn758Thr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009810 p.Ser759Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009811 p.Ser759Pro Unclassified - Prostate cancer
AR P10275 VAR_009812 p.Tyr763His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009813 p.Phe764Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009814 p.Ala765Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009815 p.Pro766Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009816 p.Asp767Glu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009817 p.Leu768Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009818 p.Asn771His Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009819 p.Glu772Ala Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009820 p.Glu772Gly Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009821 p.Ser782Asn Unclassified - Prostate cancer
AR P10275 VAR_009822 p.Arg788Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009823 p.Leu790Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009824 p.Ser791Pro Unclassified - Prostate cancer
AR P10275 VAR_009825 p.Glu793Asp Polymorphism - -
AR P10275 VAR_009826 p.Cys806Tyr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009827 p.Met807Thr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009828 p.Leu812Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009829 p.Gly820Ala Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009830 p.Leu821Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009831 p.Leu830Pro Unclassified - Prostate cancer
AR P10275 VAR_009832 p.Tyr834Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009833 p.Ile841Ser Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009834 p.Arg846Gly Unclassified - Prostate cancer
AR P10275 VAR_009835 p.Arg854Lys Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009836 p.Phe856Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009837 p.Leu863Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009838 p.Asp864Gly Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009839 p.Ser865Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009840 p.Ala870Gly Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009841 p.Ala870Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009842 p.Arg871Gly Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009843 p.His874Tyr Unclassified - Prostate cancer
AR P10275 VAR_009844 p.Thr877Ser Unclassified - Prostate cancer
AR P10275 VAR_009845 p.Leu880Gln Unclassified - Prostate cancer
AR P10275 VAR_009846 p.Leu881Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009847 p.Met886Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009848 p.Val889Met Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009848 p.Val889Met Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009849 p.Asp890Asn Unclassified - Prostate cancer
AR P10275 VAR_009850 p.Phe891Leu Unclassified - Prostate cancer
AR P10275 VAR_009851 p.Ala896Thr Unclassified - Prostate cancer
AR P10275 VAR_009852 p.Ile898Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009853 p.Gln902Arg Unclassified - Prostate cancer
AR P10275 VAR_009854 p.Val903Met Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009855 p.Pro904His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009856 p.Pro904Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009857 p.Gly909Glu Unclassified - Prostate cancer
AR P10275 VAR_009858 p.Gly909Arg Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009859 p.Lys910Arg Unclassified - Prostate cancer
AR P10275 VAR_009860 p.Val911Leu Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_009861 p.Phe916Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009862 p.His917Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_009863 p.Gln919Arg Unclassified - Prostate cancer
AR P10275 VAR_013474 p.Pro682Thr Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_013475 p.Asn705Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_013476 p.Gln711Glu Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_013477 p.Gly743Glu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_013478 p.Phe827Val Disease - Androgen insensitivity syndrome partial (PAIS) [MIM:312300]
AR P10275 VAR_013479 p.His874Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
AR P10275 VAR_013480 p.Asp879Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068]
ARAF P10398 VAR_040375 p.Met98Thr Polymorphism rs56197559 -
ARAF P10398 VAR_040376 p.Gly331Cys Unclassified - A colorectal adenocarcinoma sample
ARAF P10398 VAR_040377 p.Glu578Asp Polymorphism rs55852926 -
ARAP1 Q96P48 VAR_055529 p.Arg358Gln Polymorphism rs34976830 -
ARAP1 Q96P48 VAR_061023 p.Gln1047Glu Polymorphism rs56200889 -
ARAP2 Q8WZ64 VAR_027952 p.Arg1523Gln Polymorphism rs4833069 -
ARAP2 Q8WZ64 VAR_055530 p.Lys384Asn Polymorphism rs35468501 -
ARAP2 Q8WZ64 VAR_055531 p.Phe1006Leu Polymorphism rs35218548 -
ARAP3 Q8WWN8 VAR_036180 p.Arg471Trp Unclassified - A colorectal cancer sample
ARAP3 Q8WWN8 VAR_036181 p.Ile1085Met Unclassified - A breast cancer sample
ARAP3 Q8WWN8 VAR_036182 p.Thr1428Pro Unclassified - A breast cancer sample
ARAP3 Q8WWN8 VAR_048330 p.Asp218His Polymorphism rs1031904 -
ARCN1 P48444 VAR_011788 p.Phe186Leu Polymorphism rs682327 -
ARCN1 P48444 VAR_011789 p.Lys309Asn Polymorphism rs1063124 -
AREG P15514 VAR_018918 p.Asp80Val Polymorphism - -
AREG P15514 VAR_018919 p.Tyr81Cys Polymorphism - -
ARF4 P18085 VAR_048317 p.Val68Ala Polymorphism rs11550597 -
ARFGAP1 Q8N6T3 VAR_015187 p.Val184Met Polymorphism rs2273499 -
ARFGAP2 Q8N6H7 VAR_030780 p.Ser411Asn Polymorphism rs3740691 -
ARFGAP2 Q8N6H7 VAR_048321 p.Pro143Arg Polymorphism rs11542793 -
ARFGAP2 Q8N6H7 VAR_048322 p.Arg339His Polymorphism rs34662994 -
ARFGAP2 Q8N6H7 VAR_048323 p.Arg406Trp Polymorphism rs35950498 -
ARFGAP3 Q9NP61 VAR_013447 p.Ser355Arg Polymorphism rs1018448 -
ARFGAP3 Q9NP61 VAR_036177 p.Glu290Gly Unclassified - A breast cancer sample
ARFGAP3 Q9NP61 VAR_055523 p.Ser231Gly Polymorphism rs9607957 -
ARFGAP3 Q9NP61 VAR_055524 p.Ser370Gly Polymorphism rs16986123 -
ARFGAP3 Q9NP61 VAR_055525 p.Gln468His Polymorphism rs35498349 -
ARFGAP3 Q9NP61 VAR_055526 p.Ala482Thr Polymorphism rs36003980 -
ARFGAP3 Q9NP61 VAR_055527 p.Gln490Arg Polymorphism rs11551619 -
ARFGEF1 Q9Y6D6 VAR_028749 p.Asp273Tyr Polymorphism rs4321984 -
ARFGEF1 Q9Y6D6 VAR_036155 p.Gly316Glu Unclassified - A colorectal cancer sample
ARFGEF2 Q9Y6D5 VAR_028750 p.Ala527Val Polymorphism rs6063343 -
ARFGEF2 Q9Y6D5 VAR_036156 p.Lys794Glu Unclassified - A breast cancer sample
ARFGEF2 Q9Y6D5 VAR_037438 p.Glu209Lys Disease rs28937880 Autosomal recessive periventricular nodular heterotopia type 2 (PVNH2) [MIM:608097]
ARFGEF3 Q5TH69 VAR_032154 p.Ser689Ala Polymorphism rs7764091 -
ARFGEF3 Q5TH69 VAR_032155 p.Ala1571Thr Polymorphism rs3736706 -
ARFGEF3 Q5TH69 VAR_032156 p.Lys2031Arg Polymorphism rs35964895 -
ARFGEF3 Q5TH69 VAR_051925 p.Glu413Asp Polymorphism rs9376338 -
ARFRP1 Q13795 VAR_036559 p.Leu108Val Unclassified - A breast cancer sample
ARG1 P05089 VAR_000674 p.Gly235Arg Disease - Argininemia (ARGIN) [MIM:207800]
ARG1 P05089 VAR_000675 p.Thr290Ser Polymorphism - -
ARG1 P05089 VAR_015594 p.Ile11Thr Disease rs28941474 Argininemia (ARGIN) [MIM:207800]
ARG1 P05089 VAR_015595 p.Gly138Val Disease - Argininemia (ARGIN) [MIM:207800]
ARG2 P78540 VAR_033520 p.Gly240Arg Polymorphism rs17104534 -
ARGFX A6NJG6 VAR_037226 p.Arg145Gln Polymorphism rs9813391 -
ARHGAP1 Q07960 VAR_049137 p.Arg369Cys Polymorphism rs11822837 -
ARHGAP10 A1A4S6 VAR_035114 p.Met684Val Polymorphism rs2276932 -
ARHGAP10 A1A4S6 VAR_049141 p.Pro488Ser Polymorphism rs17024215 -
ARHGAP11A Q6P4F7 VAR_035546 p.Glu605Lys Unclassified - A breast cancer sample
ARHGAP12 Q8IWW6 VAR_024454 p.Phe442Ser Polymorphism rs2808096 -
ARHGAP18 Q8N392 VAR_060460 p.Thr23Ala Polymorphism rs3752536 -
ARHGAP18 Q8N392 VAR_060461 p.Asn91Ser Polymorphism rs11544371 -
ARHGAP18 Q8N392 VAR_060462 p.Gln165His Polymorphism rs11544372 -
ARHGAP19 Q14CB8 VAR_031152 p.Gln305Arg Polymorphism rs17112598 -
ARHGAP20 Q9P2F6 VAR_031489 p.Ala522Thr Polymorphism rs7936020 -
ARHGAP20 Q9P2F6 VAR_031490 p.Gly632Asp Polymorphism rs17853925 -
ARHGAP21 Q5T5U3 VAR_035187 p.Asn712Ser Polymorphism rs3748222 -
ARHGAP21 Q5T5U3 VAR_035188 p.Thr1593Ala Polymorphism rs1133897 -
ARHGAP21 Q5T5U3 VAR_035189 p.Val1610Ala Polymorphism rs1143051 -
ARHGAP21 Q5T5U3 VAR_035190 p.Glu1628Lys Polymorphism rs1143057 -
ARHGAP21 Q5T5U3 VAR_035191 p.Ala1726Thr Polymorphism rs1143075 -
ARHGAP21 Q5T5U3 VAR_035192 p.Ser1949Asn Polymorphism rs1127893 -
ARHGAP22 Q7Z5H3 VAR_031153 p.Thr410Lys Polymorphism rs1867586 -
ARHGAP22 Q7Z5H3 VAR_031154 p.Arg612Cys Polymorphism rs3747853 -
ARHGAP25 P42331 VAR_049142 p.Arg192Trp Polymorphism rs3749130 -
ARHGAP25 P42331 VAR_049143 p.Arg555Ser Polymorphism rs4241344 -
ARHGAP25 P42331 VAR_049144 p.Met556Thr Polymorphism rs10177248 -
ARHGAP26 Q9UNA1 VAR_013623 p.Asn417Ser Disease - Juvenile myelomonocytic leukemia (JMML) [MIM:607785]
ARHGAP27 Q6ZUM4 VAR_038551 p.His889Gln Polymorphism rs34793644 -
ARHGAP28 Q9P2N2 VAR_031155 p.Thr190Ser Polymorphism rs6506448 -
ARHGAP28 Q9P2N2 VAR_031156 p.Gln727Pro Polymorphism rs1056408 -
ARHGAP28 Q9P2N2 VAR_055833 p.Ile168Val Polymorphism rs2303978 -
ARHGAP29 Q52LW3 VAR_038552 p.Ser552Cys Unclassified - A breast cancer sample
ARHGAP29 Q52LW3 VAR_038553 p.Gly1255Asp Polymorphism rs1999272 -
ARHGAP29 Q52LW3 VAR_049145 p.Pro1192Leu Polymorphism rs11165091 -
ARHGAP30 Q7Z6I6 VAR_031157 p.Phe70Leu Polymorphism rs17854839 -
ARHGAP30 Q7Z6I6 VAR_031158 p.Leu591Val Polymorphism rs3813609 -
ARHGAP31 Q2M1Z3 VAR_039122 p.Pro221Leu Polymorphism rs751793 -
ARHGAP31 Q2M1Z3 VAR_039123 p.Gly803Ser Polymorphism rs3732413 -
ARHGAP31 Q2M1Z3 VAR_039124 p.Ile1115Leu Polymorphism rs12107254 -
ARHGAP31 Q2M1Z3 VAR_039125 p.Val1366Met Polymorphism rs3796360 -
ARHGAP31 Q2M1Z3 VAR_039126 p.Thr1380Ile Polymorphism rs9852894 -
ARHGAP31 Q2M1Z3 VAR_065919 p.Thr727Ile Polymorphism - -
ARHGAP4 P98171 VAR_028413 p.Ala104Val Polymorphism rs5987182 -
ARHGAP40 Q5TG30 VAR_042892 p.Gly133Arg Polymorphism rs6100455 -
ARHGAP40 Q5TG30 VAR_042893 p.Arg413Leu Polymorphism rs6070872 -
ARHGAP40 Q5TG30 VAR_042894 p.His463Asn Polymorphism rs16987460 -
ARHGAP44 Q17R89 VAR_031159 p.Val463Met Polymorphism rs3213688 -
ARHGAP5 Q13017 VAR_043980 p.Ile17Val Polymorphism rs17386818 -
ARHGAP6 O43182 VAR_024453 p.Asp791Glu Polymorphism rs1009758 -
ARHGAP8 P85298 VAR_049138 p.Tyr172Cys Polymorphism rs16992915 -
ARHGAP8 P85298 VAR_049139 p.Gly333Arg Polymorphism rs6007344 -
ARHGAP8 P85298 VAR_049140 p.Pro415Leu Polymorphism rs2071762 -
ARHGAP8 P85298 VAR_061182 p.Pro418Arg Polymorphism rs9614957 -
ARHGAP9 Q9BRR9 VAR_055830 p.Arg50Gly Polymorphism rs33927108 -
ARHGAP9 Q9BRR9 VAR_055831 p.Arg137Cys Polymorphism rs3802989 -
ARHGAP9 Q9BRR9 VAR_055832 p.Ser370Ala Polymorphism rs11544238 -
ARHGEF1 Q92888 VAR_033521 p.Pro375Leu Polymorphism rs2303797 -
ARHGEF1 Q92888 VAR_035969 p.Met165Val Unclassified - A colorectal cancer sample
ARHGEF10 O15013 VAR_019118 p.Thr357Ile Disease - Slowed nerve conduction velocity (SNCV) [MIM:608236]
ARHGEF10 O15013 VAR_038603 p.Val700Ile Polymorphism rs2294039 -
ARHGEF10 O15013 VAR_057188 p.Val725Ile Polymorphism rs2294039 -
ARHGEF10L Q9HCE6 VAR_044183 p.Asp69Asn Polymorphism rs35497285 -
ARHGEF10L Q9HCE6 VAR_044184 p.Ala96Val Unclassified - A colorectal cancer sample
ARHGEF10L Q9HCE6 VAR_044185 p.Trp991Arg Polymorphism rs6695710 -
ARHGEF10L Q9HCE6 VAR_044186 p.Ile1219Val Polymorphism rs2270976 -
ARHGEF10L Q9HCE6 VAR_061794 p.Ser47Asn Polymorphism rs34417109 -
ARHGEF11 O15085 VAR_024285 p.His1427Arg Polymorphism rs945508 -
ARHGEF11 O15085 VAR_061795 p.Ser1416Gly Polymorphism rs868188 -
ARHGEF12 Q9NZN5 VAR_020191 p.Tyr973Phe Polymorphism rs2305013 -
ARHGEF15 O94989 VAR_054215 p.Gly155Val Polymorphism rs17857129 -
ARHGEF15 O94989 VAR_054216 p.Leu277Pro Polymorphism rs871841 -
ARHGEF15 O94989 VAR_054217 p.Ser831Pro Polymorphism rs3744647 -
ARHGEF15 O94989 VAR_057189 p.Pro73Ser Polymorphism rs9890841 -
ARHGEF16 Q5VV41 VAR_059796 p.Val137Met Polymorphism rs3806164 -
ARHGEF16 Q5VV41 VAR_059797 p.His370Tyr Polymorphism rs2185639 -
ARHGEF16 Q5VV41 VAR_061796 p.Glu681Lys Polymorphism rs56309807 -
ARHGEF17 Q96PE2 VAR_032132 p.Gly450Glu Polymorphism rs3741150 -
ARHGEF17 Q96PE2 VAR_032133 p.Ala1465Asp Polymorphism rs2298808 -
ARHGEF18 Q6ZSZ5 VAR_044066 p.Gln701Arg Polymorphism rs2287918 -
ARHGEF18 Q6ZSZ5 VAR_044067 p.Arg752Gln Polymorphism rs2287920 -
ARHGEF18 Q6ZSZ5 VAR_063099 p.Asn1019Ser Polymorphism rs9329368 -
ARHGEF19 Q8IW93 VAR_031950 p.Gly163Arg Polymorphism rs221058 -
ARHGEF19 Q8IW93 VAR_031951 p.Glu238Gln Polymorphism rs221057 -
ARHGEF25 Q86VW2 VAR_039402 p.Cys253Tyr Polymorphism rs17857333 -
ARHGEF25 Q86VW2 VAR_039403 p.Gly397Arg Polymorphism rs17854492 -
ARHGEF25 Q86VW2 VAR_039404 p.Gln506Arg Polymorphism rs1564374 -
ARHGEF26 Q96DR7 VAR_039425 p.Val29Leu Polymorphism rs12493885 -
ARHGEF26 Q96DR7 VAR_039426 p.Phe203Ser Polymorphism rs13096373 -
ARHGEF26 Q96DR7 VAR_058205 p.Leu60Pro Polymorphism rs12497267 -
ARHGEF3 Q9NR81 VAR_021935 p.Lys13Arg Polymorphism rs3732507 -
ARHGEF3 Q9NR81 VAR_021936 p.Leu335Val Polymorphism rs3772219 -
ARHGEF37 A1IGU5 VAR_043579 p.Met421Leu Polymorphism rs4629585 -
ARHGEF37 A1IGU5 VAR_043580 p.Pro489Leu Polymorphism rs9324624 -
ARHGEF37 A1IGU5 VAR_043581 p.Ser518Arg Polymorphism rs7732714 -
ARHGEF37 A1IGU5 VAR_043582 p.Pro586Thr Polymorphism rs3733662 -
ARHGEF37 A1IGU5 VAR_043583 p.Met604Val Polymorphism rs1135093 -
ARHGEF38 Q9NXL2 VAR_038928 p.Lys67Asn Unclassified - A breast cancer sample
ARHGEF38 Q9NXL2 VAR_038929 p.Met88Val Polymorphism rs2276970 -
ARHGEF4 Q9NR80 VAR_035970 p.Lys100Arg Unclassified - A breast cancer sample
ARHGEF4 Q9NR80 VAR_035971 p.Thr441Arg Unclassified - A breast cancer sample
ARHGEF4 Q9NR80 VAR_057187 p.Asp33His Polymorphism rs10188052 -
ARHGEF40 Q8TER5 VAR_038061 p.Val956Leu Polymorphism rs7143633 -
ARHGEF40 Q8TER5 VAR_038062 p.Leu1189Ser Polymorphism rs1958396 -
ARHGEF40 Q8TER5 VAR_038063 p.Met1312Thr Polymorphism rs943992 -
ARHGEF40 Q8TER5 VAR_060541 p.Thr1418Pro Polymorphism rs17855344 -
ARHGEF6 Q15052 VAR_051981 p.Gln297His Polymorphism rs5974620 -
ARHGEF7 Q14155 VAR_064694 p.Thr790Ala Unclassified - -
ARHGEF9 O43307 VAR_028752 p.Gly55Ala Disease - Startle disease with epilepsy (STHEE) [MIM:300607]
ARID1A O14497 VAR_064695 p.Arg1020Lys Unclassified - -
ARID1A O14497 VAR_064696 p.Leu2089Pro Unclassified - -
ARID1B Q8NFD5 VAR_036257 p.Gly814Ala Unclassified - A breast cancer sample
ARID3A Q99856 VAR_033203 p.Pro36His Polymorphism rs17857499 -
ARID3A Q99856 VAR_033204 p.Lys320Glu Polymorphism rs17857501 -
ARID3A Q99856 VAR_033205 p.Gly556Ser Polymorphism rs1051505 -
ARID3C A6NKF2 VAR_043033 p.Arg310Gln Polymorphism rs12337871 -
ARID3C A6NKF2 VAR_043034 p.Cys335Gly Polymorphism rs3808869 -
ARID4A P29374 VAR_031566 p.His412Pro Polymorphism rs34982206 -
ARID4A P29374 VAR_031567 p.Asn724Ser Polymorphism rs2230098 -
ARID4A P29374 VAR_031568 p.Thr779Ala Polymorphism rs1051858 -
ARIH2 O95376 VAR_054105 p.Glu24Lys Polymorphism rs11507 -
ARIH2 O95376 VAR_054106 p.Glu29Asp Polymorphism rs34221642 -
ARL11 Q969Q4 VAR_023742 p.Ser22Leu Polymorphism - -
ARL11 Q969Q4 VAR_023743 p.Pro131Leu Polymorphism - -
ARL11 Q969Q4 VAR_023744 p.Cys148Arg Polymorphism rs3803185 -
ARL11 Q969Q4 VAR_023745 p.Glu164Lys Polymorphism - -
ARL11 Q969Q4 VAR_048318 p.Leu120Met Polymorphism rs35712316 -
ARL13B Q3SXY8 VAR_048319 p.Thr348Ser Polymorphism rs33944211 -
ARL13B Q3SXY8 VAR_054371 p.Arg79Gln Disease - Joubert syndrome type 8 (JBTS8) [MIM:612291]
ARL13B Q3SXY8 VAR_054372 p.Arg200Cys Disease - Joubert syndrome type 8 (JBTS8) [MIM:612291]
ARL14 Q8N4G2 VAR_055521 p.Asp83Asn Polymorphism rs35634980 -
ARL14 Q8N4G2 VAR_055522 p.Pro117Thr Polymorphism rs35633732 -
ARL16 Q0P5N6 VAR_059129 p.Ser10Arg Polymorphism rs8066889 -
ARL17A Q8IVW1 VAR_017170 p.Leu170Ile Polymorphism - -
ARL2 P36404 VAR_028056 p.Val141Ala Polymorphism rs664226 -
ARL2BP Q9Y2Y0 VAR_053904 p.Glu87Lys Polymorphism rs7198865 -
ARL3 P36405 VAR_014869 p.Leu34Met Polymorphism rs1141895 -
ARL4A P40617 VAR_024367 p.Arg139Lys Polymorphism rs2953325 -
ARL4D P49703 VAR_028205 p.Thr91Asn Polymorphism rs1059968 -
ARL6 Q9H0F7 VAR_027643 p.Thr31Met Disease - Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]
ARL6 Q9H0F7 VAR_027644 p.Thr31Arg Disease - Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]
ARL6 Q9H0F7 VAR_027645 p.Gly169Ala Disease - Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]
ARL6 Q9H0F7 VAR_027646 p.Leu170Trp Disease - Bardet-Biedl syndrome type 3 (BBS3) [MIM:209900]
ARL6 Q9H0F7 VAR_064184 p.Ala89Val Disease - Retinitis pigmentosa type 55 (RP55) [MIM:613575]
ARL6IP4 Q66PJ3 VAR_058333 p.Lys225Arg Polymorphism rs3178165 -
ARL6IP4 Q66PJ3 VAR_059583 p.Pro88Ala Polymorphism rs12825243 -
ARMC10 Q8N2F6 VAR_034681 p.Pro190Ser Polymorphism rs17849774 -
ARMC2 Q8NEN0 VAR_031948 p.Met166Thr Polymorphism rs9386758 -
ARMC2 Q8NEN0 VAR_031949 p.Asn433Asp Polymorphism rs17852775 -
ARMC3 Q5W041 VAR_050669 p.Glu345Gly Polymorphism rs16922864 -
ARMC3 Q5W041 VAR_050670 p.Ser608Pro Polymorphism rs11013233 -
ARMC3 Q5W041 VAR_050671 p.Arg626Gln Polymorphism rs10828395 -
ARMC4 Q5T2S8 VAR_033514 p.Asn935Lys Polymorphism rs35181927 -
ARMC4 Q5T2S8 VAR_050672 p.Ile343Thr Polymorphism rs4405206 -
ARMC4 Q5T2S8 VAR_050673 p.Ala1041Ser Polymorphism rs3737184 -
ARMC5 Q96C12 VAR_050674 p.Ile170Val Polymorphism rs35923277 -
ARMC9 Q7Z3E5 VAR_031170 p.Leu108Phe Polymorphism rs11558175 -
ARMC9 Q7Z3E5 VAR_031171 p.Ile209Thr Polymorphism rs16827883 -
ARMC9 Q7Z3E5 VAR_031172 p.Arg222His Polymorphism rs3752780 -
ARMC9 Q7Z3E5 VAR_056739 p.Ile180Val Polymorphism rs1626450 -
ARMCX4 Q5H9R4 VAR_024761 p.Arg188Gly Polymorphism rs5951332 -
ARMS2 P0C7Q2 VAR_044330 p.Arg3His Polymorphism rs10490923 -
ARMS2 P0C7Q2 VAR_044331 p.Ala69Ser Polymorphism rs10490924 -
ARNT P27540 VAR_014819 p.Asp511Asn Polymorphism rs1805133 -
ARNT P27540 VAR_018906 p.Asp517Glu Polymorphism rs10305741 -
ARNT P27540 VAR_020189 p.Pro706Leu Polymorphism rs2275237 -
ARNT P27540 VAR_024280 p.Arg430Gln Polymorphism rs2229175 -
ARNT P27540 VAR_049537 p.Glu435Lys Polymorphism rs2229176 -
ARNT2 Q9HBZ2 VAR_049538 p.Gly679Ser Polymorphism rs4072568 -
ARNTL2 Q8WYA1 VAR_030158 p.Asn340Ser Polymorphism rs1037921 -
ARNTL2 Q8WYA1 VAR_030159 p.Ala574Val Polymorphism rs11049005 -
ARPC1B O15143 VAR_014477 p.Lys37Asn Polymorphism rs1045012 -
ARPM1 Q9BYD9 VAR_055483 p.Glu234Lys Polymorphism rs2068178 -
ARR3 P36575 VAR_025520 p.Leu44Phe Polymorphism rs17855428 -
ARRDC1 Q8N5I2 VAR_048335 p.Gly363Cys Polymorphism rs35018943 -
ARRDC2 Q8TBH0 VAR_026895 p.Arg181His Polymorphism rs17852061 -
ARRDC2 Q8TBH0 VAR_026896 p.Arg192His Polymorphism rs17852062 -
ARRDC2 Q8TBH0 VAR_026897 p.Ala244Thr Polymorphism rs8110271 -
ARRDC2 Q8TBH0 VAR_026898 p.Leu396Pro Polymorphism rs7259041 -
ARRDC4 Q8NCT1 VAR_026899 p.Thr79Ala Polymorphism rs12101554 -
ARRDC4 Q8NCT1 VAR_026900 p.Pro347Ser Polymorphism rs17856817 -
ARRDC4 Q8NCT1 VAR_026901 p.Ser358Pro Polymorphism rs2130882 -
ARSA P15289 VAR_007243 p.Leu76Pro Polymorphism - -
ARSA P15289 VAR_007244 p.Pro82Leu Disease rs6151411 Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007245 p.Arg84Gln Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007246 p.Gly86Asp Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007247 p.Ser95Asn Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007248 p.Ser96Phe Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007249 p.Ser96Leu Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007250 p.Gly99Asp Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007251 p.Gly119Arg Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007252 p.Gly122Ser Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007253 p.Leu135Pro Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007254 p.Pro136Leu Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007255 p.Asp152Tyr Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007256 p.Gly154Asp Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007257 p.Pro155Arg Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007258 p.Pro167Arg Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007259 p.Asp169Asn Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007260 p.Cys172Tyr Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007261 p.Ile179Ser Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007262 p.Trp193Cys Polymorphism rs6151415 -
ARSA P15289 VAR_007263 p.Tyr201Cys Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007264 p.Ala212Val Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007265 p.Ala224Val Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007266 p.Pro231Thr Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007267 p.Arg244Cys Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007268 p.Arg244His Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007269 p.Gly245Arg Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007270 p.Ser250Tyr Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007271 p.Thr274Met Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007272 p.Arg288Cys Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007273 p.Ser295Tyr Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007274 p.Gly309Ser Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007275 p.Arg311Gln Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007276 p.Ala314Thr Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007277 p.Asp335Val Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007278 p.Asn350Ser Polymorphism rs2071421 -
ARSA P15289 VAR_007279 p.Lys367Asn Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007280 p.Arg370Gln Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007281 p.Arg370Trp Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007282 p.Pro377Leu Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007283 p.Glu382Lys Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007284 p.Arg384Cys Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007285 p.Arg390Gln Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007286 p.Arg390Trp Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007287 p.Thr391Ser Polymorphism rs743616 -
ARSA P15289 VAR_007288 p.His397Tyr Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007291 p.Pro426Leu Disease rs28940893 Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_007292 p.Ala464Val Polymorphism - -
ARSA P15289 VAR_007293 p.Arg496His Polymorphism rs6151428 -
ARSA P15289 VAR_008132 p.Cys300Phe Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_008133 p.Pro425Thr Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_018838 p.Phe356Val Polymorphism rs6151422 -
ARSA P15289 VAR_018839 p.Asn440Ser Polymorphism rs6151427 -
ARSA P15289 VAR_054164 p.Ala18Asp Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054165 p.Asp29Asn Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054166 p.Asp30His Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054167 p.Gly32Ser Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054168 p.Leu68Pro Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054169 p.Arg84Trp Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054170 p.Pro94Ala Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054171 p.Gly99Val Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054172 p.Pro136Ser Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054174 p.Arg143Gly Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054175 p.Pro148Leu Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054176 p.Gln153His Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054177 p.Pro155Leu Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054178 p.Cys156Arg Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054179 p.Leu181Gln Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054180 p.Gln190His Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054181 p.Pro191Thr Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054182 p.Ala212Pro Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054183 p.Arg217His Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054184 p.Phe219Val Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054185 p.His227Tyr Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054186 p.Phe247Ser Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054187 p.Glu253Lys Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054188 p.Asp255His Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054189 p.Asp281Tyr Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054190 p.Asn282Ser Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054191 p.Thr286Pro Disease rs28940894 Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054192 p.Arg288His Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054193 p.Gly293Asp Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054194 p.Gly293Ser Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054195 p.Cys294Tyr Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054196 p.Leu298Ser Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054197 p.Lys302Asn Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054198 p.Tyr306His Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054199 p.Gly308Asp Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054200 p.Gly308Val Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054201 p.Glu312Asp Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054202 p.Gly325Ser Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054203 p.Thr327Ile Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054204 p.Tyr376Asn Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054205 p.Asp381Glu Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054206 p.Thr408Ile Disease rs28940895 Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054207 p.Thr409Ile Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054208 p.Leu428Pro Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054209 p.Tyr429Ser Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054210 p.Ala469Gly Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSA P15289 VAR_054211 p.Cys489Gly Disease - Leukodystrophy metachromatic (MLD) [MIM:250100]
ARSB P15848 VAR_007294 p.Thr92Met Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_007295 p.Arg95Gln Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_007296 p.Cys117Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_007297 p.Gly137Val Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_007298 p.Arg152Trp Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_007299 p.Arg160Gln Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_007300 p.Tyr210Cys Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_007301 p.Leu236Pro Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_007302 p.Gly302Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_007303 p.Val376Met Polymorphism rs17220759 -
ARSB P15848 VAR_007304 p.His393Pro Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_007305 p.Cys405Tyr Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_007306 p.Leu498Pro Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_016061 p.Val358Met Polymorphism rs1065757 -
ARSB P15848 VAR_019017 p.Ser65Phe Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019019 p.Pro116His Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019020 p.Met142Ile Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019021 p.Gly144Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019022 p.Trp146Leu Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019023 p.Trp146Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019024 p.Trp146Ser Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019025 p.Cys192Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019026 p.Gln239Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019027 p.Trp312Cys Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019028 p.Arg315Gln Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019029 p.Leu321Pro Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019030 p.Ser384Asn Disease rs25414 Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019031 p.Phe399Leu Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019032 p.Arg484Gly Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019033 p.Cys521Tyr Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_019034 p.Pro531Arg Disease - Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
ARSB P15848 VAR_061883 p.Val358Leu Polymorphism rs1065757 -
ARSD P51689 VAR_052508 p.Ser224Cys Polymorphism rs211653 -
ARSD P51689 VAR_052509 p.Val500Ile Polymorphism rs2229557 -
ARSD P51689 VAR_052510 p.Met564Thr Polymorphism rs2228431 -
ARSE P51690 VAR_007307 p.Arg12Ser Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
ARSE P51690 VAR_007308 p.Arg111Pro Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
ARSE P51690 VAR_007309 p.Gly117Arg Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
ARSE P51690 VAR_007310 p.Gly137Val Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
ARSE P51690 VAR_007311 p.Gly245Arg Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
ARSE P51690 VAR_007312 p.Cys492Tyr Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
ARSE P51690 VAR_023570 p.Ile80Asn Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
ARSE P51690 VAR_023571 p.Thr481Met Disease - Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
ARSE P51690 VAR_023572 p.Pro578Ser Disease rs28935474 Chondrodysplasia punctata X-linked recessive type 1 (CDPX1) [MIM:302950]
ARSE P51690 VAR_037974 p.Arg183His Polymorphism rs34412194 -
ARSE P51690 VAR_037975 p.Gly424Ser Polymorphism rs35143646 -
ARSF P54793 VAR_058846 p.His527Tyr Polymorphism rs1052638 -
ARSG Q96EG1 VAR_052511 p.Ala11Val Polymorphism rs8074806 -
ARSG Q96EG1 VAR_052512 p.Thr236Ser Polymorphism rs1558876 -
ARSG Q96EG1 VAR_052513 p.Trp274Arg Polymorphism rs1558878 -
ARSG Q96EG1 VAR_052514 p.Arg385His Polymorphism rs9972951 -
ARSJ Q5FYB0 VAR_052515 p.Ser565Arg Polymorphism rs17046588 -
ARSK Q6UWY0 VAR_052516 p.Gln525Arg Polymorphism rs17084927 -
ART1 P52961 VAR_034125 p.Pro105Leu Polymorphism rs35123761 -
ART1 P52961 VAR_034126 p.Pro126Arg Polymorphism rs35619488 -
ART1 P52961 VAR_053526 p.Leu257Pro Polymorphism rs2280134 -
ART3 Q13508 VAR_060072 p.Ser363Leu Polymorphism rs1128864 -
ART4 Q93070 VAR_013707 p.Gly108Val Polymorphism rs28362797 -
ART4 Q93070 VAR_013708 p.Thr117Ile Polymorphism rs28362798 -
ART4 Q93070 VAR_013709 p.Asn265Asp Polymorphism rs11276 -
ART4 Q93070 VAR_013710 p.Leu300Val Polymorphism rs3088190 -
ART4 Q93070 VAR_022266 p.Asp135Glu Polymorphism rs28362799 -
ART4 Q93070 VAR_022267 p.Thr189Met Polymorphism rs28362800 -
ARTN Q5T4W7 VAR_026718 p.Gln19Arg Polymorphism rs2242637 -
ARV1 Q9H2C2 VAR_033525 p.Gly101Glu Polymorphism rs35764859 -
ARVCF O00192 VAR_020408 p.Val175Ala Polymorphism rs2240717 -
ARVCF O00192 VAR_024692 p.Arg906Gln Polymorphism rs165815 -
ARVCF O00192 VAR_033529 p.Pro220Leu Polymorphism rs2073748 -
ARVCF O00192 VAR_033530 p.Arg909Trp Polymorphism rs34687532 -
ARVCF O00192 VAR_033531 p.Arg909Gln Polymorphism rs34638476 -
ARVCF O00192 VAR_033532 p.Arg912Trp Polymorphism rs34445280 -
ARVCF O00192 VAR_053812 p.Arg539Gln Polymorphism rs16982871 -
ARX Q96QS3 VAR_015178 p.Arg332His Disease rs28936075 Lissencephaly X-linked type 2 (LISX2) [MIM:300215]
ARX Q96QS3 VAR_015179 p.Leu343Gln Disease rs28936076 Lissencephaly X-linked type 2 (LISX2) [MIM:300215]
ARX Q96QS3 VAR_015180 p.Pro353Leu Disease rs28936074 Epileptic encephalopathy early infantile type 1 (EIEE1) [MIM:308350]
ARX Q96QS3 VAR_015669 p.Leu33Pro Disease rs28936077 Mental retardation X-linked ARX-related (MRXARX) [MIM:300419]
ARX Q96QS3 VAR_015671 p.Gly286Ser Disease rs28935479 Mental retardation X-linked ARX-related (MRXARX) [MIM:300419]
ARX Q96QS3 VAR_033260 p.Arg332Pro Disease - Lissencephaly X-linked type 2 (LISX2) [MIM:300215]
ARX Q96QS3 VAR_033261 p.Thr333Asn Disease rs28936078 Agenesis of the corpus callosum with abnormal genitalia (ACCAG) [MIM:300004]
ARX Q96QS3 VAR_033262 p.Pro353Arg Disease - Lissencephaly X-linked type 2 (LISX2) [MIM:300215]
ARX Q96QS3 VAR_033263 p.Ala521Thr Disease - Lissencephaly X-linked type 2 (LISX2) [MIM:300215]
AS3MT Q9HBK9 VAR_027392 p.Arg173Trp Polymorphism rs35232887 -
AS3MT Q9HBK9 VAR_027393 p.Met287Thr Polymorphism rs11191439 -
AS3MT Q9HBK9 VAR_027394 p.Thr306Ile Polymorphism rs34556438 -
ASAH1 Q13510 VAR_008860 p.Val72Met Polymorphism rs1071645 -
ASAH1 Q13510 VAR_008861 p.Ile93Val Polymorphism rs1049874 -
ASAH1 Q13510 VAR_008862 p.Thr222Lys Disease - Farber lipogranulomatosis (FL) [MIM:228000]
ASAH1 Q13510 VAR_021579 p.Tyr36Cys Disease - Farber lipogranulomatosis (FL) [MIM:228000]
ASAH1 Q13510 VAR_021581 p.Val97Glu Disease - Farber lipogranulomatosis (FL) [MIM:228000]
ASAH1 Q13510 VAR_021582 p.Glu138Val Disease rs28934273 Farber lipogranulomatosis (FL) [MIM:228000]
ASAH1 Q13510 VAR_021583 p.Gly235Arg Disease - Farber lipogranulomatosis (FL) [MIM:228000]
ASAH1 Q13510 VAR_021584 p.Arg254Gly Disease - Farber lipogranulomatosis (FL) [MIM:228000]
ASAH1 Q13510 VAR_021585 p.Asn320Asp Disease - Farber lipogranulomatosis (FL) [MIM:228000]
ASAH1 Q13510 VAR_021586 p.Pro362Arg Disease - Farber lipogranulomatosis (FL) [MIM:228000]
ASAH1 Q13510 VAR_021587 p.Val369Ile Polymorphism rs17636067 -
ASAH1 Q13510 VAR_038166 p.Gln22His Disease - Farber lipogranulomatosis (FL) [MIM:228000]
ASAH1 Q13510 VAR_038167 p.His23Asp Disease - Farber lipogranulomatosis (FL) [MIM:228000]
ASAH1 Q13510 VAR_038168 p.Asp124Glu Polymorphism rs2472205 -
ASAH1 Q13510 VAR_038169 p.Leu182Val Disease - Farber lipogranulomatosis (FL) [MIM:228000]
ASAH1 Q13510 VAR_038170 p.Val246Ala Polymorphism rs10103355 -
ASAH1 Q13510 VAR_057979 p.Ala70Val Polymorphism rs10103355 -
ASAH1 Q13510 VAR_057980 p.Val88Met Polymorphism rs1071645 -
ASAH2 Q9NR71 VAR_027064 p.Thr51Ala Polymorphism rs7067625 -
ASAH2 Q9NR71 VAR_027065 p.Ala346Ser Polymorphism rs993869 -
ASAP1 Q9ULH1 VAR_055528 p.Ile728Val Polymorphism rs966185 -
ASAP2 O43150 VAR_020307 p.Glu748Asp Polymorphism rs2715860 -
ASAP3 Q8TDY4 VAR_035612 p.Ala617Thr Unclassified - A colorectal cancer sample
ASAP3 Q8TDY4 VAR_048295 p.Glu377Ala Polymorphism rs16828486 -
ASB10 Q8WXI3 VAR_022090 p.Arg453Cys Polymorphism rs3800791 -
ASB11 Q8WXH4 VAR_048286 p.Asp249Asn Polymorphism rs34025595 -
ASB11 Q8WXH4 VAR_048287 p.Ser263Gly Polymorphism rs35859007 -
ASB15 Q8WXK1 VAR_060466 p.Pro57Leu Polymorphism rs6962756 -
ASB15 Q8WXK1 VAR_060467 p.Gly357Ala Polymorphism rs4731112 -
ASB16 Q96NS5 VAR_059127 p.Thr240Ile Polymorphism rs7224330 -
ASB16 Q96NS5 VAR_064697 p.Thr173Pro Unclassified - -
ASB17 Q8WXJ9 VAR_024174 p.Ser2Asn Polymorphism rs3795251 -
ASB17 Q8WXJ9 VAR_048288 p.Val101Ala Polymorphism rs1796814 -
ASB18 Q6ZVZ8 VAR_037331 p.Ala127Pro Polymorphism rs7588748 -
ASB18 Q6ZVZ8 VAR_048289 p.Ala104Thr Polymorphism rs6756597 -
ASB18 Q6ZVZ8 VAR_048290 p.His407Asn Polymorphism rs10177957 -
ASB18 Q6ZVZ8 VAR_059128 p.Gly261Ser Polymorphism rs6431437 -
ASB2 Q96Q27 VAR_022089 p.Pro160Ser Polymorphism rs2295213 -
ASB4 Q9Y574 VAR_033512 p.Val17Leu Polymorphism rs35047380 -
ASCC1 Q8N9N2 VAR_061278 p.Asp34Asn Polymorphism rs11558719 -
ASCC1 Q8N9N2 VAR_066588 p.Asn318Ser Unclassified - -
ASCC2 Q9H1I8 VAR_019464 p.Arg509Gln Polymorphism rs4823054 -
ASCC2 Q9H1I8 VAR_025512 p.Asp407His Polymorphism rs28265 -
ASCC2 Q9H1I8 VAR_025513 p.Pro423Ser Polymorphism rs36571 -
ASCC2 Q9H1I8 VAR_025514 p.Arg639Leu Polymorphism rs6006259 -
ASCC2 Q9H1I8 VAR_050675 p.Arg96Cys Polymorphism rs1894473 -
ASCC2 Q9H1I8 VAR_050676 p.Val123Ile Polymorphism rs11549795 -
ASCC2 Q9H1I8 VAR_050677 p.Asp546Gly Polymorphism rs34833047 -
ASCC2 Q9H1I8 VAR_050678 p.Glu588Lys Polymorphism rs34062345 -
ASCC3 Q8N3C0 VAR_034859 p.Leu146Phe Polymorphism rs9390698 -
ASCC3 Q8N3C0 VAR_034860 p.Val1050Ile Polymorphism rs9497983 -
ASCC3 Q8N3C0 VAR_034861 p.Cys1800Trp Polymorphism rs35011147 -
ASCC3 Q8N3C0 VAR_034862 p.Val1930Met Polymorphism rs3213542 -
ASCC3 Q8N3C0 VAR_034863 p.Ser1995Cys Polymorphism rs240780 -
ASCC3 Q8N3C0 VAR_034864 p.Tyr2176Cys Polymorphism rs240768 -
ASCC3 Q8N3C0 VAR_049339 p.Glu344Lys Polymorphism rs6918004 -
ASCC3 Q8N3C0 VAR_049340 p.Asn478Ser Polymorphism rs7750940 -
ASCC3 Q8N3C0 VAR_049341 p.Val1425Ala Polymorphism rs17246013 -
ASCC3 Q8N3C0 VAR_049342 p.Arg1497Thr Polymorphism rs17305382 -
ASCC3 Q8N3C0 VAR_061212 p.Ser1016Cys Polymorphism rs57534235 -
ASCL1 P50553 VAR_013179 p.Glu158Gly Polymorphism rs1803157 -
ASCL3 Q9NQ33 VAR_055948 p.Arg54Leu Polymorphism rs4909951 -
ASH1L Q9NR48 VAR_028949 p.Thr1771Ala Polymorphism rs4971053 -
ASH1L Q9NR48 VAR_055905 p.Ser1416Pro Polymorphism rs13373934 -
ASH2L Q9UBL3 VAR_050679 p.Ser478Phe Polymorphism rs34167006 -
ASIP P42127 VAR_005003 p.Gln61Pro Polymorphism rs1129414 -
ASIP P42127 VAR_022125 p.Val13Ala Polymorphism rs2296151 -
ASL P04424 VAR_000676 p.Arg95Cys Disease rs28940585 Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASL P04424 VAR_000677 p.Arg111Trp Disease - Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASL P04424 VAR_000678 p.Arg193Gln Disease - Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASL P04424 VAR_000679 p.Gln286Arg Disease rs28941472 Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASL P04424 VAR_017572 p.Val178Met Disease rs28941473 Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASL P04424 VAR_017573 p.Arg379Cys Disease rs28940287 Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASL P04424 VAR_017574 p.Arg385Cys Disease rs28940286 Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASL P04424 VAR_036281 p.Thr181Ser Unclassified - A breast cancer sample
ASL P04424 VAR_036282 p.Gly200Val Unclassified - A breast cancer sample
ASL P04424 VAR_043106 p.Asp31Asn Disease - Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASL P04424 VAR_043107 p.Arg113Gln Disease - Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASL P04424 VAR_043108 p.Arg186Gln Disease - Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASL P04424 VAR_043109 p.Arg236Trp Disease - Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASL P04424 VAR_043110 p.Val335Leu Disease - Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASL P04424 VAR_043111 p.Met382Arg Disease - Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASL P04424 VAR_043112 p.Arg456Trp Disease - Arginosuccinicaciduria (ARGINSA) [MIM:207900]
ASMT P46597 VAR_045991 p.Asn17Lys Polymorphism rs17149149 -
ASMTL O95671 VAR_054802 p.Val458Met Polymorphism rs4503285 -
ASMTL O95671 VAR_054803 p.Arg541Lys Polymorphism rs1127297 -
ASNA1 O43681 VAR_018844 p.Asn332Ser Polymorphism rs8177499 -
ASNS P08243 VAR_023443 p.Val210Glu Polymorphism rs1049674 -
ASNSD1 Q9NWL6 VAR_039876 p.Gly190Arg Polymorphism rs1437880 -
ASNSD1 Q9NWL6 VAR_039877 p.Met434Thr Polymorphism rs35137531 -
ASPA P45381 VAR_004995 p.Ile143Thr Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_004996 p.Cys152Arg Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_004998 p.Gly274Arg Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_004999 p.Glu285Ala Disease rs28940279 Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_005000 p.Phe295Ser Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_005001 p.Ala305Glu Disease rs28940574 Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_016778 p.His21Pro Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_016779 p.Ala57Thr Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_016780 p.Arg168His Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_016781 p.Pro181Thr Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_016782 p.Glu24Gly Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_016783 p.Asp68Ala Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_016784 p.Asp114Tyr Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_016785 p.Cys152Trp Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_016786 p.Tyr231Cys Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_016787 p.His244Arg Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_016788 p.Asp249Val Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_039079 p.Ile16Thr Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_039080 p.Gly27Arg Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_039081 p.Asp114Glu Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_039082 p.Gly123Glu Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_039083 p.Cys152Tyr Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_039084 p.Arg168Cys Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_039085 p.Pro183His Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_039086 p.Val186Phe Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_039087 p.Met195Arg Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_039088 p.Pro280Leu Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_039089 p.Pro280Ser Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_039090 p.Ala287Thr Disease - Canavan disease (CAND) [MIM:271900]
ASPA P45381 VAR_039091 p.Cys310Gly Polymorphism - -
ASPDH A6ND91 VAR_062676 p.Gln266Arg Polymorphism rs12977172 -
ASPG Q86U10 VAR_059131 p.Cys95Arg Polymorphism rs1770984 -
ASPG Q86U10 VAR_059132 p.Leu96Val Polymorphism rs1744284 -
ASPG Q86U10 VAR_059133 p.Ser344Arg Polymorphism rs8012505 -
ASPH Q12797 VAR_053781 p.Arg354Met Polymorphism rs6995412 -
ASPHD2 Q6ICH7 VAR_060123 p.Asn235Ser Polymorphism rs34902186 -
ASPM Q8IZT6 VAR_019084 p.Ser2562Gly Polymorphism rs41310927 -
ASPM Q8IZT6 VAR_019085 p.Leu2647Ile Polymorphism rs3762271 -
ASPM Q8IZT6 VAR_019086 p.Leu3132Arg Polymorphism rs36004306 -
ASPM Q8IZT6 VAR_024369 p.Arg430Gly Polymorphism rs6428388 -
ASPM Q8IZT6 VAR_046758 p.Thr869Ser Polymorphism rs7551108 -
ASPM Q8IZT6 VAR_046759 p.Ser1090Phe Polymorphism rs16841081 -
ASPM Q8IZT6 VAR_046760 p.Tyr2494His Polymorphism rs964201 -
ASPM Q8IZT6 VAR_046761 p.Gln2620His Polymorphism rs12138336 -
ASPM Q8IZT6 VAR_046762 p.His3258Arg Polymorphism rs7528827 -
ASPM Q8IZT6 VAR_047263 p.Ile313Val Polymorphism rs12025066 -
ASPRV1 Q53RT3 VAR_051508 p.Thr49Ala Polymorphism rs3796097 -
ASPSCR1 Q9BZE9 VAR_027503 p.Leu252Gln Polymorphism rs8074498 -
ASPSCR1 Q9BZE9 VAR_027504 p.Asp487Glu Polymorphism rs13087 -
ASPSCR1 Q9BZE9 VAR_034745 p.Val318Met Polymorphism rs34085048 -
ASS1 P00966 VAR_000681 p.Gly14Ser Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_000682 p.Ser18Leu Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_000683 p.Arg86Cys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_000684 p.Ala118Thr Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_000685 p.Arg157His Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_000686 p.Ser180Asn Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_000687 p.Ala192Val Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_000688 p.Arg272Cys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_000689 p.Gly280Arg Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_000690 p.Arg304Trp Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_000691 p.Gly324Ser Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_000692 p.Arg363Leu Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_000693 p.Arg363Trp Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_000694 p.Gly390Arg Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015891 p.Cys19Arg Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015892 p.Arg86His Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015893 p.Arg95Ser Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015894 p.Pro96Ser Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015895 p.Gly117Ser Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015896 p.Gly117Asp Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015897 p.Arg157Cys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015898 p.Trp179Arg Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015899 p.Glu191Lys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015900 p.Arg265His Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015901 p.Val269Met Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015902 p.Glu283Lys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015903 p.Lys310Arg Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_015904 p.Gly362Val Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_016007 p.Glu270Gln Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_016008 p.Arg279Gln Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_016009 p.Lys310Gln Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_016010 p.Arg363Gly Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_016011 p.Arg363Gln Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_016012 p.Thr389Ile Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_016013 p.Val69Ala Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_016014 p.Arg108Leu Disease rs35269064 Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_016015 p.Thr119Ile Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_050427 p.Ser65Ile Polymorphism rs2229556 -
ASS1 P00966 VAR_058337 p.Gln40Leu Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058338 p.Ser79Pro Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058339 p.Pro96His Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058340 p.Asp124Asn Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058341 p.Arg127Gln Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058342 p.Arg127Trp Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058343 p.Leu160Pro Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058344 p.Tyr190Asp Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058345 p.Glu191Gln Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058346 p.Ala202Glu Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058347 p.Leu206Pro Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058348 p.Val263Met Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058349 p.Arg265Cys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058350 p.Lys277Thr Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058351 p.Thr284Ile Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058352 p.Tyr291Ser Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058353 p.Asp296Gly Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058354 p.Met302Val Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058355 p.Arg307Cys Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058356 p.Gly324Val Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058357 p.Ser341Phe Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058358 p.Val345Gly Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058359 p.Gly347Arg Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASS1 P00966 VAR_058360 p.Tyr359Asp Disease - Citrullinemia type 1 (CTLN1) [MIM:215700]
ASTL Q6HA08 VAR_033491 p.Gln222Arg Polymorphism rs749458 -
ASTL Q6HA08 VAR_057063 p.Lys277Gln Polymorphism rs1657502 -
ASTL Q6HA08 VAR_061734 p.Arg204His Polymorphism rs56238667 -
ASTN1 O14525 VAR_036764 p.Gly1270Arg Polymorphism rs12118933 -
ASTN1 O14525 VAR_055713 p.Arg1278Gly Polymorphism rs12118933 -
ASTN2 O75129 VAR_036765 p.Val70Ile Polymorphism rs16933591 -
ASTN2 O75129 VAR_036766 p.Arg865His Polymorphism rs3818503 -
ASTN2 O75129 VAR_036767 p.Val1149Ile Polymorphism rs16933591 -
ASTN2 O75129 VAR_036768 p.Val1293Leu Unclassified - A breast cancer sample
ASTN2 O75129 VAR_064699 p.Ala229Val Unclassified - -
ASXL1 Q8IXJ9 VAR_028157 p.Leu815Pro Polymorphism rs6058694 -
ASXL1 Q8IXJ9 VAR_028158 p.Leu1325Phe Polymorphism rs6057581 -
ASXL1 Q8IXJ9 VAR_051602 p.Val751Ile Polymorphism rs6058693 -
ASXL1 Q8IXJ9 VAR_051603 p.Leu983Arg Polymorphism rs34359205 -
ASXL2 Q76L83 VAR_037773 p.Leu731Pro Polymorphism rs13385963 -
ASXL2 Q76L83 VAR_037774 p.Ala796Val Polymorphism rs17854251 -
ASXL2 Q76L83 VAR_037775 p.Thr1210Pro Polymorphism rs12991178 -
ASXL2 Q76L83 VAR_037776 p.Thr1242Pro Polymorphism rs12990978 -
ASXL3 Q9C0F0 VAR_039267 p.Asn954Ser Polymorphism rs2282632 -
ASXL3 Q9C0F0 VAR_039268 p.Met1415Arg Polymorphism rs16964887 -
ASXL3 Q9C0F0 VAR_039269 p.Val1652Met Polymorphism rs17746949 -
ASXL3 Q9C0F0 VAR_039270 p.Met1708Val Polymorphism rs7232237 -
ASZ1 Q8WWH4 VAR_024175 p.Lys216Thr Polymorphism rs1029396 -
ATAD1 Q8NBU5 VAR_035903 p.Val107Ile Unclassified - A colorectal cancer sample
ATAD2 Q6PL18 VAR_047625 p.Ile1280Thr Polymorphism rs3758122 -
ATAD2B Q9ULI0 VAR_055467 p.Ser118Pro Polymorphism rs10210982 -
ATAD3A Q9NVI7 VAR_023526 p.Gly15Asp Polymorphism rs2274435 -
ATAD3A Q9NVI7 VAR_055468 p.Ser101Asn Polymorphism rs1619896 -
ATAD3B Q5T9A4 VAR_048120 p.Val7Ile Polymorphism rs1240504 -
ATAD5 Q96QE3 VAR_038572 p.Thr35Ser Polymorphism rs9910051 -
ATAD5 Q96QE3 VAR_038573 p.Pro87Ser Polymorphism rs3816780 -
ATAD5 Q96QE3 VAR_038574 p.Glu135Gly Polymorphism rs11080134 -
ATAD5 Q96QE3 VAR_038575 p.Arg249Lys Polymorphism rs17826219 -
ATAD5 Q96QE3 VAR_038576 p.Asn699His Polymorphism rs3764421 -
ATAD5 Q96QE3 VAR_038577 p.Tyr1419His Polymorphism rs11657270 -
ATCAY Q86WG3 VAR_017164 p.Ser301Arg Disease - Cerebellar ataxia, cayman type (ATCAY) [MIM:601238]
ATF1 P18846 VAR_024382 p.Pro191Ala Polymorphism rs2230674 -
ATF2 P15336 VAR_035999 p.Asp352His Unclassified - A breast cancer sample
ATF3 P18847 VAR_048442 p.Thr38Met Polymorphism rs11571541 -
ATF4 P18848 VAR_014768 p.Glu322Asp Polymorphism rs1803324 -
ATF4 P18848 VAR_028253 p.Gln22Pro Polymorphism rs4894 -
ATF4 P18848 VAR_029259 p.Pro258Ala Polymorphism rs1803323 -
ATF5 Q9Y2D1 VAR_022786 p.Pro121Leu Polymorphism rs283526 -
ATF6 P18850 VAR_022455 p.Met67Leu Polymorphism rs1058405 -
ATF6 P18850 VAR_022456 p.Met67Val Polymorphism rs1058405 -
ATF6 P18850 VAR_022457 p.Ala145Pro Polymorphism rs2070150 -
ATF6 P18850 VAR_022458 p.Pro157Ser Polymorphism rs1135983 -
ATF7IP Q6VMQ6 VAR_031283 p.Glu278Lys Polymorphism rs2231908 -
ATF7IP Q6VMQ6 VAR_031284 p.Asn348Ile Polymorphism rs2231909 -
ATF7IP Q6VMQ6 VAR_031285 p.Lys530Arg Polymorphism rs3213764 -
ATF7IP2 Q5U623 VAR_031286 p.Thr537Ile Polymorphism rs9932051 -
ATF7IP2 Q5U623 VAR_031287 p.Ala543Thr Polymorphism rs9931441 -
ATF7IP2 Q5U623 VAR_053872 p.Ser527Leu Polymorphism rs34834862 -
ATG10 Q9H0Y0 VAR_021562 p.Thr212Met Polymorphism rs1864183 -
ATG10 Q9H0Y0 VAR_021563 p.Pro220His Polymorphism rs1864182 -
ATG10 Q9H0Y0 VAR_024370 p.Ser62Pro Polymorphism rs3734114 -
ATG14 Q6ZNE5 VAR_049514 p.Asn131Lys Polymorphism rs17675076 -
ATG14 Q6ZNE5 VAR_061240 p.Val59Ile Polymorphism rs57295720 -
ATG16L1 Q676U5 VAR_021834 p.Thr300Ala Polymorphism rs2241880 -
ATG16L1 Q676U5 VAR_053386 p.Glu307Lys Polymorphism rs1866878 -
ATG16L2 Q8NAA4 VAR_043605 p.Arg220Trp Polymorphism rs11235604 -
ATG2A Q2TAZ0 VAR_038158 p.Val175Ile Polymorphism rs12293826 -
ATG2A Q2TAZ0 VAR_038159 p.Ala627Val Polymorphism rs2285347 -
ATG2A Q2TAZ0 VAR_038160 p.Gly948Arg Polymorphism rs11827140 -
ATG2A Q2TAZ0 VAR_061027 p.Arg394Cys Polymorphism rs35115827 -
ATG2A Q2TAZ0 VAR_061028 p.Ala404Val Polymorphism rs60711419 -
ATG2A Q2TAZ0 VAR_061029 p.Pro656Arg Polymorphism rs656195 -
ATG2B Q96BY7 VAR_021523 p.Gln1383Glu Polymorphism rs3759601 -
ATG2B Q96BY7 VAR_023096 p.Ile1567Thr Polymorphism rs2289622 -
ATG2B Q96BY7 VAR_045956 p.Asn1124Asp Polymorphism rs9323945 -
ATG4B Q9Y4P1 VAR_021486 p.Leu354Gln Polymorphism rs7601000 -
ATG5 Q9H1Y0 VAR_036243 p.Lys58Met Unclassified - A colorectal cancer sample
ATG7 O95352 VAR_053014 p.Val471Ala Polymorphism rs36117895 -
ATG9A Q7Z3C6 VAR_021835 p.Ser592Gly Polymorphism rs2276635 -
ATG9A Q7Z3C6 VAR_055534 p.Gln659His Polymorphism rs2276634 -
ATG9B Q674R7 VAR_061030 p.Pro166Leu Polymorphism rs61078191 -
ATIC P31939 VAR_019306 p.Thr116Ser Polymorphism rs2372536 -
ATIC P31939 VAR_019307 p.Lys426Arg Disease - AICA-ribosuria (AICAR) [MIM:608688]
ATL1 Q8WXF7 VAR_017146 p.Arg217Gln Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
ATL1 Q8WXF7 VAR_017147 p.Arg239Cys Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
ATL1 Q8WXF7 VAR_017148 p.His258Arg Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
ATL1 Q8WXF7 VAR_017149 p.Ser259Tyr Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
ATL1 Q8WXF7 VAR_019446 p.Ala161Pro Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
ATL1 Q8WXF7 VAR_019447 p.His247Pro Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
ATL1 Q8WXF7 VAR_058963 p.Asp43Glu Polymorphism rs17850684 -
ATL1 Q8WXF7 VAR_058964 p.Phe193Cys Polymorphism rs17850683 -
ATL1 Q8WXF7 VAR_065508 p.Glu66Gln Disease - Hereditary sensory neuropathy type 1D (HSN1D) [MIM:613708]
ATL1 Q8WXF7 VAR_065509 p.Leu157Trp Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
ATL1 Q8WXF7 VAR_065510 p.Asn355Lys Disease - Hereditary sensory neuropathy type 1D (HSN1D) [MIM:613708]
ATL1 Q8WXF7 VAR_065511 p.Met408Val Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
ATL1 Q8WXF7 VAR_065512 p.Arg415Trp Disease - Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
ATL2 Q8NHH9 VAR_032265 p.Trp18Arg Polymorphism rs3731847 -
ATL2 Q8NHH9 VAR_032266 p.Asn272Ser Polymorphism rs34873284 -
ATL2 Q8NHH9 VAR_032267 p.Asp420His Polymorphism rs7582826 -
ATM Q13315 VAR_010798 p.Ser49Cys Polymorphism rs1800054 -
ATM Q13315 VAR_010799 p.Asp126Glu Polymorphism rs2234997 -
ATM Q13315 VAR_010800 p.Val182Leu Polymorphism rs3218707 -
ATM Q13315 VAR_010801 p.Lys224Glu Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010802 p.Pro292Leu Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010803 p.Ile323Val Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010804 p.Tyr332Cys Disease - B-cell chronic lymphocytic leukemia (BCLL)
ATM Q13315 VAR_010805 p.Ala350Thr Disease - B-cell chronic lymphocytic leukemia (BCLL)
ATM Q13315 VAR_010806 p.Ile352Thr Disease - B-cell chronic lymphocytic leukemia (BCLL)
ATM Q13315 VAR_010807 p.Gly514Asp Polymorphism rs2235000 -
ATM Q13315 VAR_010808 p.Phe570Ser Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010810 p.Ser707Pro Polymorphism rs4986761 -
ATM Q13315 VAR_010812 p.Asn768Asp Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010813 p.Arg785Cys Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010814 p.Phe858Leu Polymorphism rs1800056 -
ATM Q13315 VAR_010815 p.Leu950Arg Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010816 p.Leu1001Gln Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010817 p.Met1040Val Unclassified rs3092857 B-cell non-Hodgkin lymphoma
ATM Q13315 VAR_010818 p.Pro1054Arg Polymorphism rs1800057 -
ATM Q13315 VAR_010819 p.His1082Leu Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010820 p.Glu1091Asp Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010821 p.Ile1407Thr Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010822 p.Leu1420Phe Polymorphism rs1800058 -
ATM Q13315 VAR_010823 p.Leu1420Pro Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010824 p.Lys1454Asn Polymorphism - -
ATM Q13315 VAR_010825 p.Phe1463Ser Unclassified - B-cell non-Hodgkin lymphoma
ATM Q13315 VAR_010826 p.Leu1465Pro Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010827 p.Pro1566Arg Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010828 p.Val1570Ala Polymorphism - -
ATM Q13315 VAR_010829 p.Asp1682His Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010830 p.Ser1691Arg Disease rs1800059 Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010830 p.Ser1691Arg Disease rs1800059 B-cell chronic lymphocytic leukemia (BCLL)
ATM Q13315 VAR_010831 p.Thr1743Ile Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010833 p.Asp1853Asn Polymorphism rs1801516 -
ATM Q13315 VAR_010834 p.Asp1853Val Polymorphism rs1801673 -
ATM Q13315 VAR_010835 p.Leu1910His Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010836 p.Val1913Gly Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010837 p.Thr1953Arg Disease - B-cell chronic lymphocytic leukemia (BCLL)
ATM Q13315 VAR_010838 p.Asp2016Gly Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010839 p.Gly2063Glu Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010840 p.Ala2067Asp Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010841 p.Val2079Ile Polymorphism rs1800060 -
ATM Q13315 VAR_010842 p.Glu2139Gly Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010843 p.Glu2164Lys Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010844 p.Ser2218Cys Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010846 p.Arg2227Cys Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010848 p.Ala2274Thr Disease - B-cell chronic lymphocytic leukemia (BCLL)
ATM Q13315 VAR_010849 p.Gly2287Ala Polymorphism rs1800061 -
ATM Q13315 VAR_010850 p.Thr2396Ser Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010852 p.Ala2420Pro Disease - B-cell chronic lymphocytic leukemia (BCLL)
ATM Q13315 VAR_010853 p.Glu2423Gly Unclassified - Mantle cell lymphoma
ATM Q13315 VAR_010854 p.Val2424Gly Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010854 p.Val2424Gly Disease - B-cell chronic lymphocytic leukemia (BCLL)
ATM Q13315 VAR_010856 p.Thr2438Ile Polymorphism - -
ATM Q13315 VAR_010857 p.Gln2442Pro Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010858 p.Tyr2470Asp Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010859 p.Arg2486Gly Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010860 p.Trp2491Arg Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010862 p.His2554Asp Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010863 p.Asp2625Gln Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010865 p.Leu2656Pro Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010868 p.Glu2668Gly Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010869 p.Gly2695Ala Disease - B-cell chronic lymphocytic leukemia (BCLL)
ATM Q13315 VAR_010869 p.Gly2695Ala Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010870 p.Ile2702Arg Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010871 p.Leu2722Arg Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010872 p.Asp2725Gly Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010873 p.Asp2725Val Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010874 p.Ala2726Val Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010875 p.Phe2732Leu Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010876 p.Gly2765Ser Unclassified - -
ATM Q13315 VAR_010878 p.Cys2824Tyr Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010879 p.Phe2827Cys Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010880 p.Pro2829Leu Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010881 p.Arg2832Cys Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010882 p.Arg2849Pro Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010883 p.Ser2855Arg Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010886 p.Gly2867Arg Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010888 p.Leu2890Val Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010889 p.Glu2904Gly Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010890 p.Arg2909Gly Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010892 p.Ala3006Pro Unclassified - T-prolymphocytic leukemia
ATM Q13315 VAR_010893 p.Arg3008Cys Disease - Ataxia telangiectasia (AT) [MIM:208900]
ATM Q13315 VAR_010894 p.Arg3008His Disease - B-cell chronic lymphocytic leukemia (BCLL)
ATM Q13315 VAR_010895 p.Lys3018Asn Disease - B-cell chronic lymphocytic leukemia (BCLL)
ATM Q13315 VAR_041545 p.Arg23Gln Unclassified - A colorectal adenocarcinoma sample
ATM Q13315 VAR_041546 p.Asp140His Polymorphism - -
ATM Q13315 VAR_041547 p.Arg250Gln Polymorphism - -
ATM Q13315 VAR_041548 p.Ser333Phe Polymorphism - -
ATM Q13315 VAR_041549 p.Arg337Cys Unclassified - A colorectal adenocarcinoma sample
ATM Q13315 VAR_041550 p.Arg337His Unclassified - A colorectal adenocarcinoma sample
ATM Q13315 VAR_041551 p.Val410Ala Polymorphism - -
ATM Q13315 VAR_041552 p.Asn504Ser Polymorphism - -
ATM Q13315 VAR_041553 p.Cys540Tyr Unclassified - A colorectal adenocarcinoma sample
ATM Q13315 VAR_041554 p.Leu546Val Polymorphism rs2227924 -
ATM Q13315 VAR_041555 p.Phe582Leu Polymorphism rs2235006 -
ATM Q13315 VAR_041556 p.Glu848Gln Unclassified - A lung adenocarcinoma sample
ATM Q13315 VAR_041557 p.Pro872Ser Polymorphism - -
ATM Q13315 VAR_041558 p.Arg924Trp Polymorphism - -
ATM Q13315 VAR_041559 p.Thr935Ala Polymorphism - -
ATM Q13315 VAR_041560 p.Ser1179Phe Unclassified - A gastric adenocarcinoma sample
ATM Q13315 VAR_041561 p.Met1321Ile Polymorphism - -
ATM Q13315 VAR_041562 p.His1380Tyr Polymorphism - -
ATM Q13315 VAR_041563 p.Pro1382Ser Polymorphism - -
ATM Q13315 VAR_041564 p.Ile1469Met Unclassified - A renal papillary cancer sample
ATM Q13315 VAR_041565 p.Tyr1475Cys Polymorphism - -
ATM Q13315 VAR_041566 p.Asn1650Ser Polymorphism - -
ATM Q13315 VAR_041567 p.Asn1739Thr Unclassified - A colorectal adenocarcinoma sample
ATM Q13315 VAR_041568 p.Met1916Ile Unclassified - A breast pleomorphic lobular carcinoma sample
ATM Q13315 VAR_041569 p.Ala1945Thr Unclassified - A colorectal adenocarcinoma sample
ATM Q13315 VAR_041570 p.Tyr1961Cys Polymorphism - -
ATM Q13315 VAR_041571 p.Asn1983Ser Polymorphism - -
ATM Q13315 VAR_041572 p.Glu1991Asp Unclassified - A renal clear cell carcinoma sample
ATM Q13315 VAR_041573 p.Leu2307Phe Polymorphism - -
ATM Q13315 VAR_041574 p.Leu2332Pro Polymorphism - -
ATM Q13315 VAR_041575 p.Ile2356Phe Unclassified - A renal clear cell carcinoma sample
ATM Q13315 VAR_041576 p.Ser2408Leu Unclassified - A colorectal adenocarcinoma sample
ATM Q13315 VAR_041577 p.Arg2443Gln Unclassified - A colorectal adenocarcinoma sample
ATM Q13315 VAR_041578 p.Cys2464Arg Polymorphism - -
ATM Q13315 VAR_041579 p.Leu2492Arg Polymorphism - -
ATM Q13315 VAR_041580 p.Thr2666Ala Unclassified - A lung adenocarcinoma sample
ATM Q13315 VAR_041581 p.Arg2719His Polymorphism - -
ATM Q13315 VAR_041582 p.Pro2842Arg Unclassified - A lung adenocarcinoma sample
ATM Q13315 VAR_041583 p.Asp2870Asn Polymorphism - -
ATM Q13315 VAR_056678 p.Arg45Trp Polymorphism rs3218684 -
ATM Q13315 VAR_056679 p.Thr761Ser Polymorphism rs2235011 -
ATM Q13315 VAR_056680 p.Ser788Arg Polymorphism rs641252 -
ATM Q13315 VAR_056681 p.Asp814Glu Polymorphism rs3218695 -
ATM Q13315 VAR_056682 p.Thr935Met Polymorphism rs3218708 -
ATM Q13315 VAR_056683 p.Leu942Phe Polymorphism rs3218688 -
ATM Q13315 VAR_056684 p.Glu1313Gln Polymorphism rs3092841 -
ATM Q13315 VAR_056685 p.Ala1427Thr Polymorphism rs2229021 -
ATM Q13315 VAR_056686 p.Leu1541Phe Polymorphism rs3092849 -
ATM Q13315 VAR_056687 p.Val1729Leu Polymorphism rs3092907 -
ATM Q13315 VAR_056688 p.Arg2034Gln Polymorphism rs3218670 -
ATM Q13315 VAR_056689 p.Thr2335Lys Polymorphism rs3092831 -
ATM Q13315 VAR_056690 p.Glu2570Gly Polymorphism rs28904920 -
ATM Q13315 VAR_056691 p.Thr2640Ile Polymorphism rs4988125 -
ATM Q13315 VAR_056692 p.Gly2709Ser Polymorphism rs3218680 -
ATMIN O43313 VAR_050681 p.Ser240Pro Polymorphism rs2278022 -
ATMIN O43313 VAR_050682 p.Lys305Glu Polymorphism rs2278023 -
ATN1 P54259 VAR_030937 p.Met339Ile Polymorphism rs1058045 -
ATOH1 Q92858 VAR_049539 p.His237Gln Polymorphism rs35182771 -
ATOH8 Q96SQ7 VAR_039582 p.Leu150Pro Polymorphism rs17851881 -
ATP10A O60312 VAR_022004 p.Thr532Met Polymorphism rs2066703 -
ATP10A O60312 VAR_022005 p.Ala784Thr Polymorphism rs2066704 -
ATP10A O60312 VAR_022006 p.Trp1172Cys Polymorphism rs2076742 -
ATP10A O60312 VAR_022007 p.Ala1179Thr Polymorphism rs2076744 -
ATP10A O60312 VAR_022008 p.Ile1188Val Polymorphism rs2076745 -
ATP10A O60312 VAR_022009 p.Arg1298Ser Polymorphism rs3816800 -
ATP10A O60312 VAR_048380 p.Ser353Tyr Polymorphism rs17116056 -
ATP10A O60312 VAR_048381 p.Glu834Lys Polymorphism rs17555920 -
ATP10A O60312 VAR_048382 p.Val1198Met Polymorphism rs2076746 -
ATP10A O60312 VAR_048383 p.Ala1397Val Polymorphism rs9324127 -
ATP10A O60312 VAR_061038 p.Arg504His Polymorphism rs56724944 -
ATP10B O94823 VAR_048384 p.Cys217Arg Polymorphism rs958912 -
ATP10D Q9P241 VAR_020187 p.Val1240Ile Polymorphism rs1058793 -
ATP10D Q9P241 VAR_024371 p.Ser1389Thr Polymorphism rs4145944 -
ATP10D Q9P241 VAR_048385 p.Thr43Ile Polymorphism rs33995001 -
ATP10D Q9P241 VAR_048386 p.Cys171Arg Polymorphism rs7683838 -
ATP10D Q9P241 VAR_048387 p.Thr320Ile Polymorphism rs35596623 -
ATP10D Q9P241 VAR_048388 p.Ala337Thr Polymorphism rs35012290 -
ATP10D Q9P241 VAR_048389 p.Asn511Ser Polymorphism rs10003238 -
ATP10D Q9P241 VAR_048390 p.Phe522Leu Polymorphism rs6843325 -
ATP10D Q9P241 VAR_048391 p.Pro716Thr Polymorphism rs34208443 -
ATP10D Q9P241 VAR_048392 p.Asn720Ser Polymorphism rs34169638 -
ATP10D Q9P241 VAR_048393 p.Ser959Asn Polymorphism rs17462252 -
ATP10D Q9P241 VAR_048394 p.Arg1183Lys Polymorphism rs16851681 -
ATP10D Q9P241 VAR_048395 p.Ala1392Gly Polymorphism rs35375547 -
ATP11A P98196 VAR_048379 p.Val1091Ile Polymorphism rs11616795 -
ATP11A P98196 VAR_059139 p.Met317Val Polymorphism rs368865 -
ATP11C Q8NB49 VAR_021827 p.Cys114Trp Polymorphism rs2491014 -
ATP11C Q8NB49 VAR_036501 p.Thr157Ile Unclassified - A colorectal cancer sample
ATP11C Q8NB49 VAR_036502 p.Gln931Pro Unclassified - A colorectal cancer sample
ATP11C Q8NB49 VAR_055546 p.Tyr522Cys Polymorphism rs17281983 -
ATP11C Q8NB49 VAR_061036 p.Val972Met Polymorphism rs55724992 -
ATP12A P54707 VAR_020186 p.Pro863Leu Polymorphism rs2289909 -
ATP13A2 Q9NQ11 VAR_058451 p.Thr12Met Polymorphism rs151117874 -
ATP13A2 Q9NQ11 VAR_058452 p.Gly49Ser Polymorphism rs56379718 -
ATP13A2 Q9NQ11 VAR_058453 p.Arg294Gln Polymorphism rs56367069 -
ATP13A2 Q9NQ11 VAR_058454 p.Pro389Leu Polymorphism rs56275621 -
ATP13A2 Q9NQ11 VAR_058455 p.Gly504Arg Disease rs121918227 Kufor-Rakeb syndrome (KRS) [MIM:606693]
ATP13A2 Q9NQ11 VAR_058456 p.Gly533Arg Unclassified - -
ATP13A2 Q9NQ11 VAR_058457 p.Val578Gly Polymorphism rs56186751 -
ATP13A2 Q9NQ11 VAR_058458 p.Ala746Thr Polymorphism rs147277743 -
ATP13A2 Q9NQ11 VAR_058459 p.Arg762Trp Polymorphism rs55635527 -
ATP13A2 Q9NQ11 VAR_058460 p.Val776Ile Polymorphism rs56170027 -
ATP13A2 Q9NQ11 VAR_058461 p.Ile946Phe Polymorphism rs55708915 -
ATP13A2 Q9NQ11 VAR_066019 p.Phe182Leu Disease - Kufor-Rakeb syndrome (KRS) [MIM:606693]
ATP13A2 Q9NQ11 VAR_066020 p.Gly877Arg Disease - Kufor-Rakeb syndrome (KRS) [MIM:606693]
ATP13A2 Q9NQ11 VAR_066021 p.Leu1059Arg Disease - Kufor-Rakeb syndrome (KRS) [MIM:606693]
ATP13A4 Q4VNC1 VAR_038849 p.Ile181Met Polymorphism rs6788448 -
ATP13A4 Q4VNC1 VAR_038850 p.Val353Ala Polymorphism - -
ATP13A4 Q4VNC1 VAR_038851 p.Glu646Asp Polymorphism rs35424709 -
ATP13A5 Q4VNC0 VAR_043614 p.Glu133Gln Polymorphism rs6797429 -
ATP13A5 Q4VNC0 VAR_043615 p.Gly739Ser Polymorphism rs2280268 -
ATP13A5 Q4VNC0 VAR_043616 p.Ile1053Val Polymorphism rs6787746 -
ATP13A5 Q4VNC0 VAR_043617 p.Val1131Ala Polymorphism rs2271791 -
ATP13A5 Q4VNC0 VAR_043618 p.Lys1204Gln Polymorphism rs7428010 -
ATP13A5 Q4VNC0 VAR_061039 p.Ser96Tyr Polymorphism rs12637558 -
ATP1A1 P05023 VAR_048374 p.Ser47Ile Polymorphism rs12564026 -
ATP1A2 P50993 VAR_019934 p.Thr378Asn Disease rs28934002 Alternating hemiplegia of childhood (AHC) [MIM:104290]
ATP1A2 P50993 VAR_019935 p.Arg689Gln Disease rs28933401 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]
ATP1A2 P50993 VAR_019936 p.Met731Thr Disease rs28933400 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]
ATP1A2 P50993 VAR_019937 p.Leu764Pro Disease rs28933398 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]
ATP1A2 P50993 VAR_019938 p.Trp887Arg Disease rs28933399 Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]
ATP1A2 P50993 VAR_065685 p.Gly715Arg Disease - Familial hemiplegic migraine type 2 (FHM2) [MIM:602481]
ATP1A3 P13637 VAR_026735 p.Ile274Thr Disease - Dystonia type 12 (DYT12) [MIM:128235]
ATP1A3 P13637 VAR_026736 p.Glu277Lys Disease - Dystonia type 12 (DYT12) [MIM:128235]
ATP1A3 P13637 VAR_026737 p.Thr613Met Disease - Dystonia type 12 (DYT12) [MIM:128235]
ATP1A3 P13637 VAR_026738 p.Ile758Ser Disease - Dystonia type 12 (DYT12) [MIM:128235]
ATP1A3 P13637 VAR_026739 p.Phe780Leu Disease - Dystonia type 12 (DYT12) [MIM:128235]
ATP1A3 P13637 VAR_026740 p.Asp801Tyr Disease - Dystonia type 12 (DYT12) [MIM:128235]
ATP1A4 Q13733 VAR_048375 p.Gly83Asp Polymorphism rs6427504 -
ATP1A4 Q13733 VAR_048376 p.Glu297Lys Polymorphism rs17368402 -
ATP1A4 Q13733 VAR_048377 p.Met541Arg Polymorphism rs16831482 -
ATP1A4 Q13733 VAR_048378 p.Met586Ile Polymorphism rs7528360 -
ATP1B2 P14415 VAR_030339 p.Thr199Ala Polymorphism rs2227866 -
ATP1B2 P14415 VAR_061031 p.Gln124Leu Polymorphism rs34745087 -
ATP1B4 Q9UN42 VAR_055535 p.Val48Ala Polymorphism rs2072452 -
ATP2A1 O14983 VAR_015588 p.Pro789Leu Disease - Brody myopathy (BRM) [MIM:601003]
ATP2A2 P16615 VAR_008608 p.Gly23Glu Disease rs28929478 Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008609 p.Asn39Thr Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008611 p.Leu65Ser Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008612 p.Arg131Gln Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008613 p.Pro160Leu Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008614 p.Ser186Pro Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008615 p.Gly211Asp Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008616 p.Val223Met Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008617 p.Cys268Phe Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008618 p.Gly310Val Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008619 p.Cys318Arg Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008620 p.Ile348Thr Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008621 p.Glu412Gly Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008622 p.Ser495Phe Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008623 p.Cys560Arg Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008624 p.Phe675Ser Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008625 p.Lys683Glu Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008626 p.Asp702Asn Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008627 p.Ala745Asp Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008629 p.Ser765Leu Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008630 p.Asn767Ser Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008631 p.Gly769Arg Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008632 p.Ala803Thr Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008633 p.Ala838Pro Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008634 p.Val843Phe Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008635 p.Cys875Gly Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008636 p.Ser920Tyr Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008637 p.His943Arg Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_008638 p.Pro975Arg Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_009508 p.Thr357Lys Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_009509 p.Gly749Arg Disease - Darier disease (DD) [MIM:124200]
ATP2A2 P16615 VAR_017532 p.Pro602Leu Disease - Acrokeratosis verruciformis (AKV) [MIM:101900]
ATP2A3 Q93084 VAR_036498 p.Arg674His Unclassified - A breast cancer sample
ATP2A3 Q93084 VAR_048372 p.Gln869His Polymorphism rs11654827 -
ATP2B1 P20020 VAR_000698 p.Met267Arg Polymorphism - -
ATP2B3 Q16720 VAR_027928 p.Ile198Met Polymorphism rs2269409 -
ATP2C1 P98194 VAR_008803 p.Ala304Thr Disease - Hailey-Hailey disease (HHD) [MIM:169600]
ATP2C1 P98194 VAR_008804 p.Leu318Pro Disease - Hailey-Hailey disease (HHD) [MIM:169600]
ATP2C1 P98194 VAR_008805 p.Met641Arg Disease - Hailey-Hailey disease (HHD) [MIM:169600]
ATP2C1 P98194 VAR_008806 p.Gly645Arg Disease - Hailey-Hailey disease (HHD) [MIM:169600]
ATP2C1 P98194 VAR_008807 p.Thr709Met Disease - Hailey-Hailey disease (HHD) [MIM:169600]
ATP2C1 P98194 VAR_008808 p.Pro744Arg Disease - Hailey-Hailey disease (HHD) [MIM:169600]
ATP2C1 P98194 VAR_010130 p.Pro201Leu Disease - Hailey-Hailey disease (HHD) [MIM:169600]
ATP2C1 P98194 VAR_010131 p.Cys344Tyr Unclassified - -
ATP2C1 P98194 VAR_010132 p.Thr570Ile Unclassified - -
ATP2C1 P98194 VAR_019523 p.Cys490Phe Disease - Hailey-Hailey disease (HHD) [MIM:169600]
ATP2C1 P98194 VAR_019524 p.Leu584Pro Disease - Hailey-Hailey disease (HHD) [MIM:169600]
ATP2C1 P98194 VAR_022672 p.Gly309Cys Disease - Hailey-Hailey disease (HHD) [MIM:169600]
ATP2C1 P98194 VAR_022673 p.Leu341Pro Disease - Hailey-Hailey disease (HHD) [MIM:169600]
ATP2C1 P98194 VAR_022674 p.Cys411Arg Unclassified - -
ATP2C1 P98194 VAR_022675 p.Ile580Val Unclassified - -
ATP2C1 P98194 VAR_022676 p.Asp742Tyr Unclassified - -
ATP2C1 P98194 VAR_022677 p.Gly789Arg Unclassified - -
ATP2C1 P98194 VAR_048373 p.Ala450Thr Polymorphism rs41434650 -
ATP2C2 O75185 VAR_047935 p.Gly411Ser Polymorphism rs2303853 -
ATP2C2 O75185 VAR_047936 p.Met466Leu Polymorphism rs247897 -
ATP2C2 O75185 VAR_047937 p.Leu907Pro Polymorphism rs16973859 -
ATP2C2 O75185 VAR_059137 p.Met165Leu Polymorphism rs247818 -
ATP4A P20648 VAR_019428 p.Val265Ala Polymorphism rs2733743 -
ATP5A1 P25705 VAR_048369 p.Ala32Ser Polymorphism rs2228437 -
ATP5A1 P25705 VAR_048370 p.Ile223Val Polymorphism rs2228436 -
ATP5B P06576 VAR_048371 p.Glu274Gln Polymorphism rs1042001 -
ATP5E P56381 VAR_066211 p.Tyr12Cys Disease - Mitochondrial complex V deficiency nuclear type 3 (MC5DN3) [MIM:614053]
ATP5F1 P24539 VAR_013176 p.Thr152Asn Polymorphism rs1264895 -
ATP5F1 P24539 VAR_033534 p.Thr152Met Polymorphism rs1264895 -
ATP5G2 Q06055 VAR_011920 p.Ser58Ile Polymorphism rs13819 -
ATP5G2 Q06055 VAR_011921 p.Met141Lys Polymorphism rs1803177 -
ATP5G3 P48201 VAR_011922 p.Gly93Glu Polymorphism rs1802622 -
ATP5O P48047 VAR_011930 p.Lys98Arg Polymorphism rs4842 -
ATP5S Q99766 VAR_060296 p.Pro18Leu Polymorphism rs2275592 -
ATP5SL Q9NW81 VAR_057798 p.Arg9Cys Polymorphism rs2231938 -
ATP5SL Q9NW81 VAR_057799 p.His23Arg Polymorphism rs2231939 -
ATP5SL Q9NW81 VAR_057800 p.Asn34Ser Polymorphism rs2231940 -
ATP5SL Q9NW81 VAR_057801 p.Glu230Lys Polymorphism rs2231943 -
ATP5SL Q9NW81 VAR_060165 p.Cys159Ser Polymorphism rs1043413 -
ATP6AP2 O75787 VAR_051313 p.Pro90Ala Polymorphism rs9014 -
ATP6AP2 O75787 VAR_051314 p.Ala290Pro Polymorphism rs35798522 -
ATP6V0A2 Q9Y487 VAR_042730 p.Arg685Gln Polymorphism rs7969410 -
ATP6V0A2 Q9Y487 VAR_042731 p.Ala813Val Polymorphism rs17883456 -
ATP6V0A4 Q9HBG4 VAR_017255 p.Pro524Leu Disease - Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]
ATP6V0A4 Q9HBG4 VAR_017256 p.Met580Thr Disease rs3807153 Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]
ATP6V0A4 Q9HBG4 VAR_017257 p.Gly820Arg Disease - Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]
ATP6V0A4 Q9HBG4 VAR_020992 p.Val2Ala Polymorphism rs10258719 -
ATP6V0A4 Q9HBG4 VAR_020993 p.Gly175Asp Disease - Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]
ATP6V0A4 Q9HBG4 VAR_020995 p.Arg449His Disease - Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]
ATP6V0A4 Q9HBG4 VAR_020996 p.Arg807Gln Disease rs28939081 Distal renal tubular acidosis with preserved hearing (RTADR) [MIM:602722]
ATP6V0A4 Q9HBG4 VAR_066612 p.Phe554Leu Polymorphism rs1026435 -
ATP6V0A4 Q9HBG4 VAR_066613 p.His604Gln Polymorphism rs3807154 -
ATP6V0B Q99437 VAR_035703 p.Val155Met Unclassified - A breast cancer sample
ATP6V0D2 Q8N8Y2 VAR_032039 p.Gly272Arg Polymorphism rs10094744 -
ATP6V0D2 Q8N8Y2 VAR_032040 p.Glu295Lys Polymorphism rs4263741 -
ATP6V1B1 P15313 VAR_007866 p.Leu81Pro Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
ATP6V1B1 P15313 VAR_007867 p.Arg124Trp Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
ATP6V1B1 P15313 VAR_007868 p.Met174Arg Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
ATP6V1B1 P15313 VAR_007869 p.Thr275Pro Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
ATP6V1B1 P15313 VAR_007870 p.Gly316Glu Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
ATP6V1B1 P15313 VAR_007871 p.Pro346Arg Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
ATP6V1B1 P15313 VAR_007872 p.Gly364Ser Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
ATP6V1B1 P15313 VAR_021011 p.Thr30Ile Polymorphism rs17720303 -
ATP6V1B1 P15313 VAR_021012 p.Gly123Val Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
ATP6V1B1 P15313 VAR_021013 p.Arg157Cys Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
ATP6V1B1 P15313 VAR_021014 p.Glu161Lys Polymorphism - -
ATP6V1B1 P15313 VAR_021015 p.Arg465His Disease - Distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]
ATP6V1C2 Q8NEY4 VAR_032041 p.Asn143Asp Polymorphism rs1198849 -
ATP6V1E1 P36543 VAR_036565 p.Arg50Gly Unclassified - A colorectal cancer sample
ATP6V1F Q16864 VAR_048348 p.Gly24Val Polymorphism rs10958 -
ATP6V1G3 Q96LB4 VAR_048343 p.Glu54Gln Polymorphism rs16843254 -
ATP7A Q04656 VAR_000699 p.Ala629Pro Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_000700 p.Gly727Arg Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_000701 p.Leu1006Pro Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_000702 p.Gly1019Asp Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_009999 p.Ser637Leu Disease rs28936068 Occipital horn syndrome (OHS) [MIM:304150]
ATP7A Q04656 VAR_010000 p.Val767Leu Polymorphism rs2227291 -
ATP7A Q04656 VAR_010001 p.Leu873Arg Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_010002 p.Gly876Glu Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_010003 p.Cys1000Arg Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_010004 p.Gly1300Glu Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_010005 p.Gly1302Arg Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_010006 p.Gly1302Val Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_010007 p.Asp1305Ala Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_010008 p.Ala1362Val Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_016119 p.Ile669Thr Polymorphism rs2234935 -
ATP7A Q04656 VAR_016120 p.Arg703His Polymorphism rs2234936 -
ATP7A Q04656 VAR_016121 p.Ile1464Val Polymorphism rs2234938 -
ATP7A Q04656 VAR_023261 p.Leu706Arg Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023262 p.Arg844His Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023263 p.Gly853Arg Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023264 p.Gly860Val Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023265 p.Gly876Arg Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023266 p.Gln924Arg Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023267 p.Ala1007Val Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023268 p.Gly1015Asp Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023269 p.Asp1044Gly Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023270 p.Leu1100Pro Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023271 p.Gly1118Asp Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023272 p.Gly1255Arg Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023273 p.Lys1282Glu Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023274 p.Asn1304Lys Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023275 p.Gly1315Arg Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023276 p.Ala1325Val Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023277 p.Ser1344Arg Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023278 p.Ile1345Phe Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023279 p.Gly1369Arg Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_023280 p.Ser1397Phe Disease - Menkes disease (MNKD) [MIM:309400]
ATP7A Q04656 VAR_063882 p.Thr994Ile Disease - Distal spinal muscular atrophy X-linked type 3 (DSMAX3) [MIM:300489]
ATP7A Q04656 VAR_063883 p.Asn1304Ser Disease - Occipital horn syndrome (OHS) [MIM:304150]
ATP7A Q04656 VAR_063884 p.Pro1386Ser Disease - Distal spinal muscular atrophy X-linked type 3 (DSMAX3) [MIM:300489]
ATP7B P35670 VAR_000703 p.Gly85Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000704 p.Gly96Asp Polymorphism - -
ATP7B P35670 VAR_000705 p.Ile390Val Polymorphism - -
ATP7B P35670 VAR_000706 p.Ser406Ala Polymorphism rs1801243 -
ATP7B P35670 VAR_000707 p.Val446Leu Polymorphism - -
ATP7B P35670 VAR_000708 p.Val456Leu Polymorphism rs1801244 -
ATP7B P35670 VAR_000709 p.Leu466Val Polymorphism - -
ATP7B P35670 VAR_000710 p.Leu492Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000711 p.Asn565Ser Polymorphism - -
ATP7B P35670 VAR_000712 p.Gly626Ala Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000713 p.Asp642His Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000714 p.Met645Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000715 p.Met665Ile Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000716 p.Gly691Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000717 p.Leu708Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000718 p.Gly710Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000719 p.Gly710Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000720 p.Gly711Glu Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000721 p.Tyr713Cys Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000722 p.Arg723Gly Polymorphism - -
ATP7B P35670 VAR_000723 p.Ile747Phe Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000724 p.Asp765Asn Disease rs28942075 Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000725 p.Met769Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000726 p.Leu776Val Polymorphism - -
ATP7B P35670 VAR_000727 p.Arg778Gly Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000728 p.Arg778Leu Disease rs28942074 Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000729 p.Arg778Gln Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000730 p.Arg778Trp Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000731 p.Leu795Phe Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000732 p.Lys832Arg Polymorphism rs1061472 -
ATP7B P35670 VAR_000733 p.Pro840Leu Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000734 p.Ile857Thr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000735 p.Val864Ile Polymorphism - -
ATP7B P35670 VAR_000736 p.Gly869Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000737 p.Ala874Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000738 p.Asp918Asn Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000739 p.Arg919Gly Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000740 p.Arg919Trp Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000741 p.Ser921Asn Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000742 p.Thr933Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000743 p.Thr935Met Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000744 p.Gly943Asp Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000745 p.Gly943Ser Disease rs28942076 Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000746 p.Arg952Lys Polymorphism rs732774 -
ATP7B P35670 VAR_000747 p.Arg969Gln Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000748 p.Thr977Met Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000749 p.Pro992Leu Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000750 p.Val995Ala Polymorphism - -
ATP7B P35670 VAR_000751 p.Ala1003Thr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000752 p.Ala1018Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000753 p.Gly1035Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000754 p.Arg1041Trp Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000755 p.Leu1043Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000756 p.Glu1064Ala Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000757 p.Glu1064Lys Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000758 p.His1069Gln Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000759 p.Leu1083Phe Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000760 p.Gly1089Glu Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000761 p.Gly1089Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000762 p.Gly1101Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000763 p.Ile1102Thr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000764 p.Val1109Met Polymorphism - -
ATP7B P35670 VAR_000765 p.Val1140Ala Polymorphism rs1801249 -
ATP7B P35670 VAR_000766 p.Gln1142His Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000767 p.Val1146Met Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000768 p.Ile1148Thr Disease rs60431989 Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000769 p.Trp1153Cys Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000770 p.Met1169Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000771 p.Ala1183Gly Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000772 p.Ala1183Thr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000773 p.Gly1186Cys Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000774 p.Gly1186Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000775 p.Gly1213Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000776 p.Val1216Met Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000778 p.Thr1220Met Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000779 p.Asp1222Tyr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000781 p.Gly1266Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000782 p.Asp1267Ala Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000783 p.Asn1270Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000784 p.Pro1273Leu Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000785 p.Ala1278Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000787 p.Ser1310Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000788 p.Arg1322Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000789 p.Gly1341Asp Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000790 p.Trp1353Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_000791 p.Ala1358Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009004 p.Arg616Gln Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009006 p.Gly711Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009007 p.Gly711Trp Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009008 p.Ser744Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009009 p.Met769Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009010 p.Leu795Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009011 p.Gly869Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009012 p.Cys985Tyr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009013 p.Ala1003Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009014 p.Thr1033Ala Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009015 p.Arg1041Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009016 p.Pro1052Leu Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009017 p.Gly1061Glu Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009018 p.Ala1063Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009019 p.Glu1068Gly Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009020 p.Gln1095Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009021 p.Cys1104Phe Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009022 p.Arg1151His Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009023 p.Met1169Thr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009024 p.Glu1173Lys Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009025 p.His1207Arg Polymorphism rs7334118 -
ATP7B P35670 VAR_009026 p.Val1239Gly Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009027 p.Val1262Phe Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009028 p.Gly1266Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009029 p.Val1297Ile Polymorphism - -
ATP7B P35670 VAR_009030 p.Leu1327Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009031 p.Ser1363Phe Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_009032 p.Thr1434Met Disease rs60986317 Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_010010 p.Gly710Ala Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_010011 p.Tyr741Cys Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_010012 p.Gly891Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_010013 p.Ile967Phe Disease rs60003608 Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_010014 p.Thr1031Ile Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_010015 p.Arg1038Lys Disease rs59959366 Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_010017 p.Val1106Asp Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_010018 p.Trp1153Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_010019 p.Gly1176Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_010020 p.Asp1222Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_010021 p.Gly1355Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023010 p.Ala14Asp Polymorphism - -
ATP7B P35670 VAR_023011 p.Asn41Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023012 p.Arg616Trp Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023013 p.Leu641Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023014 p.Pro690Leu Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023015 p.Ser693Cys Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023016 p.Ser721Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023017 p.Thr737Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023018 p.Pro760Leu Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023019 p.Asp765Gly Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023020 p.Pro768His Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023021 p.Met769Ile Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023022 p.Gly875Arg Polymorphism - -
ATP7B P35670 VAR_023023 p.Val890Met Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023024 p.Gln898Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023025 p.Asp918Glu Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023026 p.Val949Gly Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023027 p.Ser975Tyr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023028 p.Thr1033Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023029 p.Phe1094Leu Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023030 p.Pro1098Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023031 p.Gly1099Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023032 p.Gly1111Asp Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023033 p.Thr1143Asn Polymorphism - -
ATP7B P35670 VAR_023034 p.Ala1168Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023035 p.Thr1232Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023036 p.Pro1245Ser Polymorphism - -
ATP7B P35670 VAR_023037 p.Lys1248Asn Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023038 p.Leu1255Ile Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023039 p.Asp1271Asn Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023040 p.Asp1279Gly Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023041 p.Leu1305Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023042 p.Ile1336Thr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023043 p.Gly1355Cys Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023044 p.Leu1373Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_023045 p.Leu1373Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044453 p.Val290Leu Polymorphism - -
ATP7B P35670 VAR_044454 p.Ala486Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044455 p.Tyr532His Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044456 p.Gly591Asp Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044457 p.Ala604Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044458 p.His639Tyr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044459 p.Ser653Tyr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044460 p.Cys703Tyr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044461 p.Gly710Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044462 p.Ala756Gly Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044463 p.Thr766Met Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044464 p.Thr766Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044465 p.Leu776Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044466 p.Ala861Thr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044467 p.Gly875Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044468 p.Gly943Cys Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044469 p.Gly988Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044470 p.Thr991Met Disease rs41292782 Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044471 p.Pro992His Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044472 p.Met996Thr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044473 p.Gly1000Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044474 p.Thr1029Ile Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044475 p.Ala1065Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044476 p.Cys1104Tyr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044477 p.Val1106Ile Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044478 p.Gly1176Glu Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044480 p.Gly1221Glu Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044481 p.Asp1222Asn Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044482 p.Val1252Ile Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044483 p.Gln1256Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044484 p.Asp1279Tyr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044485 p.Gly1287Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044486 p.Asp1296Asn Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044488 p.Tyr1331Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044489 p.Gly1341Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044490 p.Gly1341Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044491 p.Pro1352Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044492 p.Leu1368Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044493 p.Cys1375Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044494 p.Pro1379Ser Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_044495 p.Asp1407Glu Polymorphism - -
ATP7B P35670 VAR_058925 p.Val536Ala Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_058926 p.Ser657Arg Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_058927 p.Ala971Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_058928 p.Thr974Met Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_058929 p.Gln1004Pro Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_058930 p.Gly1149Ala Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_058931 p.Asp1164Asn Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_058932 p.Glu1173Gly Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_058933 p.Arg1228Thr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_058934 p.Ile1230Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_058935 p.Asp1267Val Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_058936 p.Ala1328Thr Disease - Wilson disease (WD) [MIM:277900]
ATP7B P35670 VAR_058937 p.Met1359Ile Disease - Wilson disease (WD) [MIM:277900]
ATP8A1 Q9Y2Q0 VAR_022003 p.Thr673Met Polymorphism rs3792687 -
ATP8A2 Q9NTI2 VAR_055543 p.Ala1029Thr Polymorphism rs2296242 -
ATP8B1 O43520 VAR_008809 p.Leu288Ser Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_008810 p.Gly308Val Disease rs28939685 Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_008812 p.Ile661Thr Disease rs28939686 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
ATP8B1 O43520 VAR_008812 p.Ile661Thr Disease rs28939686 Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_008813 p.Gly892Arg Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
ATP8B1 O43520 VAR_008813 p.Gly892Arg Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_015423 p.Asp554Asn Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_029271 p.His78Gln Polymorphism rs3745079 -
ATP8B1 O43520 VAR_029272 p.Ile577Val Polymorphism rs3745078 -
ATP8B1 O43520 VAR_029273 p.Arg952Gln Polymorphism rs12968116 -
ATP8B1 O43520 VAR_036499 p.Ala886Val Unclassified - A breast cancer sample
ATP8B1 O43520 VAR_036500 p.Ile1178Met Unclassified - A breast cancer sample
ATP8B1 O43520 VAR_043044 p.Asn45Thr Disease - Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
ATP8B1 O43520 VAR_043045 p.Asp70Asn Disease rs34719006 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
ATP8B1 O43520 VAR_043046 p.Leu127Pro Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_043047 p.Lys203Glu Disease rs56355310 Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
ATP8B1 O43520 VAR_043048 p.Phe305Ile Polymorphism - -
ATP8B1 O43520 VAR_043049 p.Gly308Asp Disease rs28939685 Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
ATP8B1 O43520 VAR_043050 p.Ile344Phe Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
ATP8B1 O43520 VAR_043051 p.Arg384His Polymorphism rs2271260 -
ATP8B1 O43520 VAR_043052 p.Ile393Val Polymorphism rs34315917 -
ATP8B1 O43520 VAR_043053 p.Ser403Tyr Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_043054 p.Arg412Pro Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_043055 p.Glu429Ala Polymorphism rs34018205 -
ATP8B1 O43520 VAR_043056 p.Ser453Tyr Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
ATP8B1 O43520 VAR_043057 p.Asp454Gly Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
ATP8B1 O43520 VAR_043058 p.Thr456Met Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_043059 p.Tyr500His Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_043061 p.His535Leu Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_043062 p.Ser580Asn Polymorphism rs33963153 -
ATP8B1 O43520 VAR_043063 p.Arg600Gln Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
ATP8B1 O43520 VAR_043064 p.Arg600Trp Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
ATP8B1 O43520 VAR_043065 p.Arg628Trp Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
ATP8B1 O43520 VAR_043066 p.Met674Thr Polymorphism rs35470719 -
ATP8B1 O43520 VAR_043067 p.Asp688Gly Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_043068 p.Ile694Thr Disease - Benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]
ATP8B1 O43520 VAR_043069 p.Gly733Arg Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_043070 p.Lys814Asn Polymorphism rs34018300 -
ATP8B1 O43520 VAR_043071 p.Phe853Ser Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_043072 p.Arg867Cys Disease - Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
ATP8B1 O43520 VAR_043073 p.Gly1040Arg Disease - Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
ATP8B1 O43520 VAR_055045 p.Ala1152Thr Polymorphism rs222581 -
ATP8B3 O60423 VAR_055544 p.Gly45Arg Polymorphism rs7250872 -
ATP8B3 O60423 VAR_055545 p.Val618Ile Polymorphism rs8100856 -
ATP8B4 Q8TF62 VAR_046962 p.Asn225Ser Polymorphism rs16963151 -
ATP8B4 Q8TF62 VAR_046963 p.His452Asn Polymorphism rs2452524 -
ATP8B4 Q8TF62 VAR_046964 p.Asn1165Lys Polymorphism rs16962989 -
ATP8B4 Q8TF62 VAR_046965 p.Val1190Gly Polymorphism rs16962987 -
ATP9B O43861 VAR_047557 p.Ser39Gly Polymorphism rs4078115 -
ATP9B O43861 VAR_047558 p.Asp504Asn Polymorphism rs36034863 -
ATP9B O43861 VAR_047559 p.Met732Leu Polymorphism rs585033 -
ATP9B O43861 VAR_061037 p.Arg108Gln Polymorphism rs34938281 -
ATPAF1 Q5TC12 VAR_038906 p.Ser62Gly Polymorphism rs11211337 -
ATPAF1-AS Q6PEX7 VAR_039405 p.Asp104Glu Polymorphism rs614486 -
ATPAF1-AS Q6PEX7 VAR_039406 p.Ala199Val Polymorphism rs1025806 -
ATPAF2 Q8N5M1 VAR_023386 p.Trp94Arg Disease - Mitochondrial complex V deficiency nuclear type 1 (MC5DN1) [MIM:604273]
ATPBD4 Q7L8W6 VAR_031403 p.Gly41Glu Polymorphism rs34907758 -
ATPBD4 Q7L8W6 VAR_031404 p.Pro236Arg Polymorphism rs10519996 -
ATR Q13535 VAR_041584 p.Thr64Ala Polymorphism rs35306038 -
ATR Q13535 VAR_041585 p.His90Tyr Polymorphism rs28897763 -
ATR Q13535 VAR_041586 p.Lys297Asn Polymorphism rs2229033 -
ATR Q13535 VAR_041587 p.Val316Ile Polymorphism rs28897764 -
ATR Q13535 VAR_041588 p.Val959Met Polymorphism rs28910271 -
ATR Q13535 VAR_041589 p.Tyr1087His Polymorphism rs34253059 -
ATR Q13535 VAR_041590 p.Ser1213Gly Polymorphism rs34766606 -
ATR Q13535 VAR_041591 p.Ala1488Pro Unclassified - A lung squamous cell carcinoma sample
ATR Q13535 VAR_041592 p.Ser1607Asn Polymorphism rs55724025 -
ATR Q13535 VAR_041593 p.Asn1612Ser Polymorphism rs55894265 -
ATR Q13535 VAR_041594 p.Ala2002Gly Unclassified - A lung adenocarcinoma sample
ATR Q13535 VAR_041595 p.Gly2120Ala Polymorphism rs35134774 -
ATR Q13535 VAR_041596 p.Tyr2132Asp Polymorphism rs28910273 -
ATR Q13535 VAR_041597 p.Ser2233Ile Unclassified - A lung large cell carcinoma sample
ATR Q13535 VAR_041598 p.Arg2425Gln Polymorphism rs2229032 -
ATR Q13535 VAR_041599 p.Pro2434Ala Polymorphism rs33972295 -
ATR Q13535 VAR_041600 p.Glu2438Lys Unclassified - A breast pleomorphic lobular carcinoma sample
ATR Q13535 VAR_041601 p.Glu2537Gln Unclassified - A breast infiltrating ductal carcinoma sample
ATR Q13535 VAR_050532 p.Met211Thr Polymorphism rs2227928 -
ATR Q13535 VAR_050533 p.Ile1526Val Polymorphism rs34124242 -
ATRIP Q8WXE1 VAR_050683 p.Lys125Gln Polymorphism rs11925638 -
ATRIP Q8WXE1 VAR_050684 p.Pro240Leu Polymorphism rs35240314 -
ATRN O75882 VAR_048967 p.Asp303Ala Polymorphism rs6107308 -
ATRN O75882 VAR_048968 p.Ile426Thr Polymorphism rs17782078 -
ATRN O75882 VAR_048969 p.Arg1152Lys Polymorphism rs3886999 -
ATRN O75882 VAR_048970 p.Val1226Ile Polymorphism rs12329487 -
ATRNL1 Q5VV63 VAR_043446 p.Ser989Asn Polymorphism rs1953758 -
ATRX P46100 VAR_001226 p.Pro190Ala Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_001227 p.Leu192Phe Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_001228 p.Cys200Ser Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_001229 p.Cys220Arg Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_001230 p.Trp222Ser Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_001231 p.Cys243Phe Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_001232 p.Arg246Cys Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_001233 p.Gly249Asp Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_001234 p.His1609Arg Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_001235 p.Cys1614Arg Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_001236 p.Lys1650Asn Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_001237 p.Asn1860Ser Polymorphism rs45439799 -
ATRX P46100 VAR_001238 p.Asp2035Val Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_001239 p.Tyr2084His Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_001240 p.Arg2131Gln Disease - Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]
ATRX P46100 VAR_001241 p.Tyr2163Cys Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_010914 p.Arg246Leu Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012113 p.Gly175Glu Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012115 p.Asn179Ser Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012116 p.Pro190Leu Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012117 p.Pro190Ser Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012118 p.Val194Ile Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012119 p.Gln219Pro Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012120 p.Gly249Cys Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012121 p.Val1538Gly Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012122 p.Val1552Phe Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012123 p.Leu1645Ser Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012124 p.Pro1713Ser Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012125 p.Arg1742Lys Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012126 p.Tyr1847Cys Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_012127 p.Ile2050Thr Disease - Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]
ATRX P46100 VAR_016914 p.Ser596Pro Polymorphism rs1051678 -
ATRX P46100 VAR_016915 p.Glu740Gly Polymorphism rs1051680 -
ATRX P46100 VAR_016916 p.Thr1621Met Disease - Alpha-thalassemia mental retardation syndrome X-linked (ATRX) [MIM:301040]
ATRX P46100 VAR_023438 p.Gln929Glu Polymorphism rs3088074 -
ATRX P46100 VAR_032625 p.Cys220Tyr Disease - Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]
ATRX P46100 VAR_032626 p.Leu409Ser Disease - Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]
ATRX P46100 VAR_032627 p.Arg2271Gly Disease - Mental retardation syndromic X-linked with hypotonic facies syndrome type 1 (MRXSHF1) [MIM:309580]
ATRX P46100 VAR_055939 p.Gln545Glu Polymorphism rs35738915 -
ATXN1 P54253 VAR_046616 p.His209Gln Polymorphism rs11969612 -
ATXN1 P54253 VAR_046617 p.Pro753Ser Polymorphism rs16885 -
ATXN1L P0C7T5 VAR_044496 p.Ser313Pro Polymorphism rs7194407 -
ATXN2 Q99700 VAR_047629 p.Leu107Val Polymorphism rs695871 -
ATXN2 Q99700 VAR_047630 p.Ser248Asn Polymorphism rs7969300 -
ATXN3 P54252 VAR_013688 p.Val212Met Polymorphism rs1048755 -
ATXN3L Q9H3M9 VAR_029861 p.Leu266Phe Polymorphism rs16999010 -
ATXN3L Q9H3M9 VAR_029862 p.Gly332Asp Polymorphism rs4830842 -
ATXN7 O15265 VAR_011823 p.Lys264Arg Polymorphism rs1053338 -
ATXN7 O15265 VAR_011824 p.Pro663Ser Polymorphism rs1053340 -
ATXN7 O15265 VAR_020143 p.Val862Met Polymorphism rs3774729 -
ATXN7 O15265 VAR_053779 p.Ile573Val Polymorphism rs3733124 -
ATXN7L2 Q5T6C5 VAR_053780 p.Pro495Ser Polymorphism rs1149172 -
AUH Q13825 VAR_016911 p.Ala240Val Disease - 3-methylglutaconic aciduria type 1 (MGA1) [MIM:250950]
AURKA O14965 VAR_030840 p.Gly11Arg Polymorphism rs6069717 -
AURKA O14965 VAR_030841 p.Phe31Ile Polymorphism rs2273535 -
AURKA O14965 VAR_030842 p.Val57Ile Polymorphism rs1047972 -
AURKA O14965 VAR_041127 p.Pro50Leu Polymorphism rs34572020 -
AURKA O14965 VAR_041128 p.Ser155Arg Unclassified - A colorectal adenocarcinoma sample
AURKA O14965 VAR_041129 p.Val174Met Unclassified - A metastatic melanoma sample
AURKA O14965 VAR_041130 p.Met373Val Polymorphism rs33923703 -
AURKA O14965 VAR_061745 p.Ser104Leu Polymorphism rs2230743 -
AURKAIP1 Q9NWT8 VAR_020132 p.Gln107His Polymorphism rs3736374 -
AURKB Q96GD4 VAR_027970 p.His100Gln Polymorphism rs3027254 -
AURKB Q96GD4 VAR_027971 p.Met298Thr Polymorphism rs1059476 -
AURKB Q96GD4 VAR_040383 p.Ala52Val Polymorphism - -
AURKB Q96GD4 VAR_040384 p.Thr179Met Polymorphism - -
AURKC Q9UQB9 VAR_040385 p.Gly52Glu Unclassified - A lung adenocarcinoma sample
AURKC Q9UQB9 VAR_040386 p.Glu148Gln Unclassified - A lung squamous cell carcinoma sample
AURKC Q9UQB9 VAR_040387 p.His244Gln Unclassified - A lung adenocarcinoma sample
AUTS2 Q8WXX7 VAR_013864 p.Ala303Ser Polymorphism rs2293507 -
AVEN Q9NQS1 VAR_020144 p.Gln228Arg Polymorphism rs2241647 -
AVIL O75366 VAR_054974 p.Lys204Glu Polymorphism rs2172521 -
AVL9 Q8NBF6 VAR_027083 p.Cys257Ser Polymorphism rs2290213 -
AVP P01185 VAR_004980 p.Ser17Phe Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_004981 p.Ala19Thr Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_004982 p.Ala19Val Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_004983 p.Gly45Arg Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_004984 p.Gly48Val Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_004985 p.Arg51Cys Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_004986 p.Pro55Leu Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_004988 p.Glu78Gly Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_004989 p.Leu81Pro Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_004990 p.Gly88Arg Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_004991 p.Gly88Ser Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_004992 p.Cys92Ser Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_004993 p.Gly93Trp Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_004994 p.Gly96Cys Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_011894 p.Pro82Leu Polymorphism rs5195 -
AVP P01185 VAR_011895 p.Gly119Val Polymorphism rs1051744 -
AVP P01185 VAR_015262 p.Tyr21His Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015263 p.Pro26Leu Disease - Autosomal recessive neurohypophyseal diabetes insipidus (ARNDI) [MIM:125700]
AVP P01185 VAR_015264 p.Cys52Arg Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015265 p.Gly54Arg Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015266 p.Gly54Val Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015267 p.Cys59Arg Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015268 p.Cys59Tyr Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015269 p.Ser87Phe Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015270 p.Cys92Tyr Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015271 p.Gly96Val Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015272 p.Arg97Cys Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015273 p.Arg97Pro Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015274 p.Cys98Gly Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015275 p.Cys104Phe Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015276 p.Cys105Arg Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015277 p.Cys116Gly Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015278 p.Cys116Arg Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_015279 p.Cys105Tyr Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_019273 p.Val67Ala Disease rs28934878 Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_019274 p.Gly96Asp Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_019275 p.Cys104Gly Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_019276 p.Cys116Trp Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_029997 p.Cys58Phe Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_029998 p.Cys98Ser Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVP P01185 VAR_029999 p.Ala99Pro Disease - Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]
AVPI1 Q5T686 VAR_031405 p.Ala41Gly Polymorphism rs2275047 -
AVPR1A P37288 VAR_022065 p.Gly6Ser Polymorphism rs2228154 -
AVPR1B P47901 VAR_025159 p.Lys65Asn Polymorphism rs35369693 -
AVPR1B P47901 VAR_025160 p.Gly191Arg Polymorphism rs33990840 -
AVPR1B P47901 VAR_025161 p.Ser267Gly Polymorphism - -
AVPR1B P47901 VAR_025162 p.Arg364His Polymorphism rs28632197 -
AVPR1B P47901 VAR_061228 p.His224Gln Polymorphism rs3891058 -
AVPR2 P30518 VAR_003516 p.Thr7Ser Polymorphism rs5196 -
AVPR2 P30518 VAR_003517 p.Leu44Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003519 p.Arg64Trp Polymorphism - -
AVPR2 P30518 VAR_003520 p.His80Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003521 p.Val88Met Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003522 p.Arg106Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003523 p.Cys112Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003524 p.Arg113Trp Disease rs28935496 Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003525 p.Ser126Phe Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003526 p.Tyr128Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003527 p.Ala132Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003528 p.Arg137His Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003529 p.Arg143Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003530 p.Ala147Val Polymorphism rs5200 -
AVPR2 P30518 VAR_003531 p.Trp164Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003532 p.Ser167Leu Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003533 p.Ser167Thr Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003534 p.Arg181Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003535 p.Gly185Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003536 p.Arg202Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003537 p.Arg203Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003538 p.Tyr205Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003541 p.Tyr280Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003542 p.Ala285Pro Unclassified - -
AVPR2 P30518 VAR_003543 p.Pro286Leu Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003544 p.Pro286Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003545 p.Leu292Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003546 p.Leu309Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003547 p.Asn317Lys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_003548 p.Trp323Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_011858 p.Ala42Val Polymorphism rs5198 -
AVPR2 P30518 VAR_015296 p.Gly12Glu Polymorphism rs2071126 -
AVPR2 P30518 VAR_015297 p.Leu43Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015298 p.Ile46Lys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015299 p.Leu53Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015300 p.Asn55Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015301 p.Asn55His Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015302 p.Leu59Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015303 p.Ala61Val Polymorphism - -
AVPR2 P30518 VAR_015304 p.Leu62Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015305 p.Leu81Phe Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015306 p.Leu83Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015307 p.Leu83Gln Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015308 p.Ala84Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015309 p.Asp85Asn Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015310 p.Gln92Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015311 p.Leu94Gln Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015312 p.Pro95Leu Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015313 p.Trp99Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015314 p.Arg104Cys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015315 p.Phe105Val Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015316 p.Gly107Glu Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015317 p.Cys112Tyr Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015318 p.Gly122Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015319 p.Met123Lys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015320 p.Ser127Phe Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015321 p.Ile130Phe Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015322 p.Leu135Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015323 p.Arg139Ser Polymorphism - -
AVPR2 P30518 VAR_015324 p.Ala163Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015325 p.Pro173Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015326 p.Gln174Leu Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015327 p.Asp191Gly Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015328 p.Gly201Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015329 p.Thr204Asn Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015330 p.Val206Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015331 p.Thr207Asn Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015332 p.Ile209Phe Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015333 p.Phe214Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015334 p.Val215Met Polymorphism - -
AVPR2 P30518 VAR_015335 p.Pro217Thr Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015336 p.Leu219Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015337 p.Leu219Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015338 p.Arg252Trp Polymorphism - -
AVPR2 P30518 VAR_015339 p.Met272Lys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015340 p.Val277Ala Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015341 p.Leu282Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015342 p.Pro286Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015343 p.Phe287Leu Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015344 p.Leu289Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015345 p.Ala294Pro Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015346 p.Leu309Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015347 p.Ser315Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015348 p.Ser318Thr Polymorphism - -
AVPR2 P30518 VAR_015349 p.Cys319Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015350 p.Asn321Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015351 p.Asn321Lys Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015352 p.Asn321Tyr Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015353 p.Pro322His Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015354 p.Pro322Ser Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015355 p.Trp323Arg Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AVPR2 P30518 VAR_015356 p.Gly352Asp Polymorphism - -
AVPR2 P30518 VAR_025901 p.Arg137Cys Disease - Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]
AVPR2 P30518 VAR_025902 p.Arg137Leu Disease - Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]
AVPR2 P30518 VAR_035769 p.Arg247His Unclassified - A breast cancer sample
AVPR2 P30518 VAR_062591 p.Gly122Asp Disease - Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
AX2R Q3ZCQ2 VAR_033348 p.Gln119Arg Polymorphism rs1054428 -
AX2R Q3ZCQ2 VAR_033349 p.Arg186Trp Polymorphism rs10971 -
AXDND1 Q5T1B0 VAR_031841 p.Ala742Val Polymorphism rs17369441 -
AXDND1 Q5T1B0 VAR_031842 p.Glu991Gln Polymorphism rs6425573 -
AXDND1 Q5T1B0 VAR_050705 p.Ile522Leu Polymorphism rs11577579 -
AXDND1 Q5T1B0 VAR_050706 p.Gln993Glu Polymorphism rs6658180 -
AXIN1 O15169 VAR_015589 p.Leu106Arg Disease - Hepatocellular carcinoma (HCC) [MIM:114550]
AXIN1 O15169 VAR_015590 p.Pro345Leu Disease - Hepatocellular carcinoma (HCC) [MIM:114550]
AXIN1 O15169 VAR_015591 p.Gly425Ser Disease - Hepatocellular carcinoma (HCC) [MIM:114550]
AXIN1 O15169 VAR_015592 p.Gly650Ser Disease - Hepatocellular carcinoma (HCC) [MIM:114550]
AXIN1 O15169 VAR_015593 p.Arg841Gln Polymorphism rs34015754 -
AXIN2 Q9Y2T1 VAR_054860 p.Ser50Pro Unclassified rs2240308 Polymorphism associated with increased risk of lung cancer
AXL P30530 VAR_041877 p.Arg499Cys Unclassified - A gastric adenocarcinoma sample
AXL P30530 VAR_041878 p.Ser515Gly Polymorphism - -
AXL P30530 VAR_045596 p.Thr112Met Polymorphism rs35202236 -
AXL P30530 VAR_045597 p.Arg295Trp Unclassified - A lung neuroendocrine carcinoma sample
AXL P30530 VAR_057990 p.Asn266Asp Polymorphism rs7249222 -
AZI1 Q9UPN4 VAR_056740 p.Val43Ile Polymorphism rs8067409 -
AZI1 Q9UPN4 VAR_060226 p.Ile70Val Polymorphism rs8067409 -
AZI1 Q9UPN4 VAR_060227 p.Thr272Ala Polymorphism rs2466773 -
AZI1 Q9UPN4 VAR_060228 p.Thr397Ala Polymorphism rs2659015 -
AZI1 Q9UPN4 VAR_060229 p.Val473Ala Polymorphism rs2659016 -
B2M P61769 VAR_030660 p.Ala11Pro Disease - Hypercatabolic hypoproteinemia (HYCATHYP) [MIM:241600]
B3GALNT1 O75752 VAR_019646 p.Glu266Ala Polymorphism rs28937582 -
B3GALNT1 O75752 VAR_019647 p.Gly271Arg Unclassified - -
B3GALNT1 O75752 VAR_025091 p.Asp126Asn Polymorphism rs2231257 -
B3GALNT2 Q8NCR0 VAR_035860 p.Asn203Ser Unclassified - A breast cancer sample
B3GALT5 Q9Y2C3 VAR_020460 p.Met85Thr Polymorphism rs3746887 -
B3GALT5 Q9Y2C3 VAR_033536 p.Arg144His Polymorphism rs734411 -
B3GALT5 Q9Y2C3 VAR_049347 p.Ser27Arg Polymorphism rs12627708 -
B3GALT6 Q96L58 VAR_059317 p.Glu174Asp Polymorphism rs12085009 -
B3GALTL Q6Y288 VAR_027849 p.Glu370Lys Polymorphism rs1041073 -
B3GAT1 Q9P2W7 VAR_044538 p.Ala131Thr Polymorphism rs35434644 -
B3GAT3 O94766 VAR_066624 p.Arg277Gln Disease - Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD) [MIM:245600]
B3GNT1 O43505 VAR_025019 p.Thr253Ser Polymorphism rs35429253 -
B3GNT3 Q9Y2A9 VAR_022644 p.Arg328His Polymorphism rs36686 -
B3GNT4 Q9C0J1 VAR_032600 p.Pro6Ala Polymorphism rs7136356 -
B3GNT4 Q9C0J1 VAR_032601 p.Ser83Thr Polymorphism rs1001178 -
B3GNT4 Q9C0J1 VAR_032602 p.Leu87Pro Polymorphism rs35203505 -
B3GNT7 Q8NFL0 VAR_029633 p.Val233Ile Polymorphism rs2290130 -
B3GNT8 Q7Z7M8 VAR_049348 p.Ser137Gly Polymorphism rs284662 -
B3GNTL1 Q67FW5 VAR_032603 p.Ala341Thr Polymorphism rs7225887 -
B4GALNT1 Q00973 VAR_012052 p.Leu35Val Polymorphism rs774896 -
B4GALNT1 Q00973 VAR_012053 p.Gly172Arg Polymorphism rs810205 -
B4GALNT1 Q00973 VAR_049237 p.Ala516Val Polymorphism rs17454674 -
B4GALNT2 Q8NHY0 VAR_035990 p.Pro459His Unclassified - A colorectal cancer sample
B4GALNT2 Q8NHY0 VAR_049238 p.Ala40Asp Polymorphism rs7207403 -
B4GALNT2 Q8NHY0 VAR_049239 p.Cys466Arg Polymorphism rs7224888 -
B4GALNT3 Q6L9W6 VAR_027842 p.Gly59Ser Polymorphism rs2075033 -
B4GALNT3 Q6L9W6 VAR_027843 p.Arg265Gln Polymorphism rs11063529 -
B4GALNT3 Q6L9W6 VAR_027844 p.Lys411Arg Polymorphism rs7298766 -
B4GALNT3 Q6L9W6 VAR_048717 p.Arg768Gln Polymorphism rs11063570 -
B4GALNT3 Q6L9W6 VAR_048718 p.Arg992His Polymorphism rs36078145 -
B4GALNT4 Q76KP1 VAR_061096 p.Ala67Val Polymorphism rs34063493 -
B4GALNT4 Q76KP1 VAR_061097 p.Gly88Val Polymorphism rs11822725 -
B4GALT1 P15291 VAR_054019 p.Arg21Trp Polymorphism rs1065764 -
B4GALT1 P15291 VAR_054020 p.His257Arg Polymorphism rs9169 -
B4GALT2 O60909 VAR_020487 p.Gln122His Polymorphism rs1859728 -
B4GALT2 O60909 VAR_054021 p.Gly338Arg Polymorphism rs35904809 -
B4GALT4 O60513 VAR_022697 p.Gln116Glu Polymorphism rs3764779 -
B4GALT5 O43286 VAR_024468 p.Gly61Ser Polymorphism rs2273086 -
B4GALT5 O43286 VAR_033538 p.Tyr371Asp Polymorphism rs35195217 -
B4GALT5 O43286 VAR_054022 p.Asp368Asn Polymorphism rs235035 -
B4GALT6 Q9UBX8 VAR_054023 p.Ile379Val Polymorphism rs34683195 -
B4GALT7 Q9UBV7 VAR_010293 p.Ala186Asp Disease - Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070]
B4GALT7 Q9UBV7 VAR_010294 p.Leu206Pro Disease - Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070]
B9D2 Q9BPU9 VAR_036626 p.Ile11Met Polymorphism rs2241714 -
BAALC Q8WXS3 VAR_056741 p.Ser164Thr Polymorphism rs34542607 -
BAAT Q14032 VAR_023737 p.Met76Val Disease rs28937579 Familial hypercholanemia (FHCA) [MIM:607748]
BAAT Q14032 VAR_052303 p.Arg20Gln Polymorphism rs1572983 -
BACE1 P56817 VAR_051509 p.Cys481Arg Polymorphism rs539765 -
BACE1 P56817 VAR_060692 p.Val265Ala Polymorphism - -
BACH1 O14867 VAR_048441 p.Ser314Pro Polymorphism rs35474725 -
BACH2 Q9BYV9 VAR_033535 p.Ala418Thr Polymorphism rs34335140 -
BAD Q92934 VAR_015380 p.Ala107Ser Polymorphism rs3729933 -
BAG3 O95817 VAR_048344 p.Arg71Gln Polymorphism rs35434411 -
BAG3 O95817 VAR_048345 p.Cys151Arg Polymorphism rs2234962 -
BAG3 O95817 VAR_048346 p.Ala405Val Polymorphism rs11199064 -
BAG3 O95817 VAR_048347 p.Pro407Leu Polymorphism rs3858340 -
BAG3 O95817 VAR_063089 p.Pro209Leu Disease rs121918312 Myopathy myofibrillar type 6 (MFM6) [MIM:612954]
BAG3 O95817 VAR_065479 p.Arg71Trp Disease - Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881]
BAG3 O95817 VAR_065480 p.Arg477His Disease - Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881]
BAG3 O95817 VAR_066777 p.Pro77Leu Polymorphism rs141355480 -
BAG3 O95817 VAR_066778 p.Ile94Phe Polymorphism rs145393807 -
BAG3 O95817 VAR_066779 p.Pro115Ser Polymorphism - -
BAG3 O95817 VAR_066780 p.Ala155Thr Polymorphism rs61756328 -
BAG3 O95817 VAR_066781 p.Arg218Trp Disease - Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881]
BAG3 O95817 VAR_066782 p.Arg258Trp Polymorphism rs117671123 -
BAG3 O95817 VAR_066783 p.Asp300Asn Polymorphism rs78439745 -
BAG3 O95817 VAR_066784 p.Pro380Ser Polymorphism rs144692954 -
BAG3 O95817 VAR_066785 p.Glu455Lys Disease - Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881]
BAG3 O95817 VAR_066786 p.Leu462Pro Disease - Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881]
BAG3 O95817 VAR_066787 p.Val468Met Disease - Cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881]
BAG3 O95817 VAR_066788 p.Glu553Asp Polymorphism - -
BAG5 Q9UL15 VAR_058712 p.Cys157Trp Polymorphism rs17854644 -
BAG6 P46379 VAR_023531 p.Ser625Pro Polymorphism rs1052486 -
BAG6 P46379 VAR_037150 p.Ala728Val Polymorphism rs11548856 -
BAGE2 Q86Y30 VAR_059585 p.Arg95Thr Polymorphism rs2740327 -
BAGE2 Q86Y30 VAR_059586 p.Arg106Gln Polymorphism rs9808647 -
BAGE3 Q86Y29 VAR_059587 p.Arg95Thr Polymorphism rs2740327 -
BAGE3 Q86Y29 VAR_059588 p.Gln106Arg Polymorphism rs9808647 -
BAHCC1 Q9P281 VAR_050685 p.Arg2479Cys Polymorphism rs8746 -
BAHCC1 Q9P281 VAR_059589 p.Thr1137Ala Polymorphism rs7213444 -
BAHCC1 Q9P281 VAR_061559 p.Ala272Thr Polymorphism rs12952981 -
BAHCC1 Q9P281 VAR_061560 p.Arg1403Gln Polymorphism rs35572189 -
BAHCC1 Q9P281 VAR_061561 p.Thr1647Ala Polymorphism rs12601317 -
BAHCC1 Q9P281 VAR_061562 p.Val1998Ile Polymorphism rs34680524 -
BAHD1 Q8TBE0 VAR_032359 p.Glu26Gly Polymorphism rs3743143 -
BAHD1 Q8TBE0 VAR_032360 p.Asp182His Polymorphism rs17856679 -
BAHD1 Q8TBE0 VAR_032361 p.Gln298Lys Polymorphism rs3803357 -
BAI3 O60242 VAR_046525 p.Asn503Ser Polymorphism rs1932618 -
BAIAP2 Q9UQB8 VAR_050686 p.Gln519Arg Polymorphism rs4969391 -
BAIAP2L1 Q9UHR4 VAR_033515 p.Ser460Thr Polymorphism rs2269966 -
BAIAP3 O94812 VAR_026667 p.Asp582Ala Polymorphism rs1132356 -
BAIAP3 O94812 VAR_050687 p.Ser879Ile Polymorphism rs36074509 -
BAK1 Q16611 VAR_018829 p.Ala28Val Polymorphism rs4987115 -
BAK1 Q16611 VAR_018830 p.Ser69Arg Polymorphism rs5745592 -
BAK1 Q16611 VAR_048417 p.Arg42His Polymorphism rs1051911 -
BANF1 O75531 VAR_065954 p.Ala12Thr Disease - Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008]
BANF2 Q9H503 VAR_013693 p.Thr78Ser Polymorphism rs1053993 -
BANF2 Q9H503 VAR_024372 p.Asn3Asp Polymorphism rs4814640 -
BANK1 Q8NDB2 VAR_027729 p.Arg61His Polymorphism rs10516487 -
BANK1 Q8NDB2 VAR_027730 p.Ala383Thr Polymorphism rs3733197 -
BANK1 Q8NDB2 VAR_027731 p.Cys650Arg Polymorphism rs3113676 -
BAP1 Q92560 VAR_051517 p.Val616Glu Polymorphism rs35353781 -
BAP1 Q92560 VAR_063498 p.Ala95Asp Unclassified - A lung cancer sample
BAP1 Q92560 VAR_063499 p.Gly178Val Unclassified - A lung cancer sample
BAP1 Q92560 VAR_065976 p.Ser63Cys Unclassified - -
BAP1 Q92560 VAR_065977 p.Phe81Val Unclassified - -
BAP1 Q92560 VAR_065978 p.Cys91Trp Unclassified - -
BAP1 Q92560 VAR_065979 p.Glu315Ala Unclassified - -
BAP1 Q92560 VAR_065980 p.Glu685Val Unclassified - -
BARD1 Q99728 VAR_010354 p.Pro24Ser Polymorphism rs1048108 -
BARD1 Q99728 VAR_010355 p.Lys153Glu Polymorphism - -
BARD1 Q99728 VAR_010356 p.Val507Met Polymorphism rs2070094 -
BARD1 Q99728 VAR_010357 p.Cys557Ser Polymorphism rs28997576 -
BARD1 Q99728 VAR_010358 p.Gln564His Unclassified - An ovarian clear cell adenocarcinoma
BARD1 Q99728 VAR_010359 p.Arg658Cys Polymorphism rs3738888 -
BARD1 Q99728 VAR_010360 p.Val695Leu Unclassified - A breast cancer sample
BARD1 Q99728 VAR_010361 p.Ser761Asn Unclassified - An uterine cancer sample
BARD1 Q99728 VAR_020109 p.Ser241Cys Polymorphism rs3738885 -
BARD1 Q99728 VAR_024611 p.Arg378Ser Polymorphism rs2229571 -
BARD1 Q99728 VAR_028309 p.Ser728Phe Polymorphism rs13389423 -
BARD1 Q99728 VAR_038371 p.Ser186Gly Polymorphism rs16852741 -
BARD1 Q99728 VAR_038372 p.Cys645Arg Polymorphism rs34744268 -
BARX1 Q9HBU1 VAR_010927 p.Ala48Thr Polymorphism - -
BASP1 P80723 VAR_048396 p.Ala76Val Polymorphism rs3733748 -
BATF2 Q8N1L9 VAR_048443 p.Gly6Ser Polymorphism rs12419103 -
BATF3 Q9NR55 VAR_039988 p.Val11Ile Polymorphism rs2202683 -
BAX Q07812 VAR_007809 p.Gly67Arg Unclassified - A T-cell acute lymphoblastic leukemia cell line
BAX Q07812 VAR_013575 p.Gly11Glu Unclassified - -
BAX Q07812 VAR_013576 p.Gly108Val Unclassified - A Burkitt lymphoma
BAX Q07812 VAR_047053 p.Gly39Arg Polymorphism rs36017265 -
BAZ1A Q9NRL2 VAR_028049 p.Asp344Glu Polymorphism rs1133285 -
BAZ1A Q9NRL2 VAR_048423 p.Asn1366Lys Polymorphism rs1044140 -
BAZ2A Q9UIF9 VAR_055548 p.Val498Glu Polymorphism rs2230579 -
BAZ2B Q9UIF8 VAR_055549 p.Met71Thr Polymorphism rs10202670 -
BAZ2B Q9UIF8 VAR_055550 p.Leu422Ser Polymorphism rs3213790 -
BAZ2B Q9UIF8 VAR_055551 p.Pro530Leu Polymorphism rs3732287 -
BAZ2B Q9UIF8 VAR_055552 p.Gly702Val Polymorphism rs2302924 -
BAZ2B Q9UIF8 VAR_055553 p.Ser2024Asn Polymorphism rs415793 -
BBS1 Q8NFJ9 VAR_017215 p.Glu234Lys Disease rs35520756 Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
BBS1 Q8NFJ9 VAR_017216 p.Met390Arg Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
BBS1 Q8NFJ9 VAR_017217 p.Leu518Pro Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
BBS1 Q8NFJ9 VAR_038880 p.His35Arg Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
BBS1 Q8NFJ9 VAR_038881 p.Lys53Glu Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
BBS1 Q8NFJ9 VAR_038882 p.Asp148Asn Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
BBS1 Q8NFJ9 VAR_038883 p.Arg160Gln Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
BBS1 Q8NFJ9 VAR_038884 p.Gly305Ser Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
BBS1 Q8NFJ9 VAR_038886 p.Tyr434Ser Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
BBS1 Q8NFJ9 VAR_038887 p.Leu503His Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
BBS1 Q8NFJ9 VAR_038888 p.Leu518Gln Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
BBS1 Q8NFJ9 VAR_065554 p.Gly559Asp Unclassified - -
BBS1 Q8NFJ9 VAR_066278 p.Ile330Thr Disease - Bardet-Biedl syndrome type 1 (BBS1) [MIM:209900]
BBS1 Q8NFJ9 VAR_066485 p.Leu206Val Unclassified - -
BBS1 Q8NFJ9 VAR_066486 p.Pro245Leu Unclassified - -
BBS10 Q8TAM1 VAR_026391 p.Arg34Pro Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026392 p.Arg49Trp Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026393 p.Cys91Trp Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026394 p.Leu170Ser Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026395 p.Cys195Trp Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026396 p.Tyr197Cys Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026397 p.Val240Gly Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026398 p.Leu308Phe Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026399 p.Ser311Ala Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026400 p.Ser329Leu Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026401 p.Pro363Leu Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026402 p.Leu376Phe Polymorphism rs11109474 -
BBS10 Q8TAM1 VAR_026403 p.Leu414Ser Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026404 p.Lys579Arg Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026405 p.Tyr613Cys Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026406 p.Tyr613His Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026407 p.Gly677Val Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_026408 p.Thr689Pro Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_052272 p.Pro539Leu Polymorphism rs35676114 -
BBS10 Q8TAM1 VAR_066252 p.Leu55Pro Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_066253 p.Asp142Asn Polymorphism rs142863601 -
BBS10 Q8TAM1 VAR_066254 p.Lys188Thr Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_066255 p.Met255Ile Polymorphism rs139658279 -
BBS10 Q8TAM1 VAR_066256 p.Ala296Thr Polymorphism rs150587582 -
BBS10 Q8TAM1 VAR_066257 p.His410Gln Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_066258 p.Leu600Ser Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_066259 p.Ala636Val Disease rs113224628 Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_066260 p.Leu687Pro Disease - Bardet-Biedl syndrome type 10 (BBS10) [MIM:209900]
BBS10 Q8TAM1 VAR_066261 p.His715Arg Polymorphism - -
BBS12 Q6ZW61 VAR_034919 p.Ile39Thr Polymorphism - -
BBS12 Q6ZW61 VAR_034921 p.Glu126Asp Polymorphism rs309369 -
BBS12 Q6ZW61 VAR_034922 p.Pro159Leu Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
BBS12 Q6ZW61 VAR_034923 p.Ile170Val Polymorphism - -
BBS12 Q6ZW61 VAR_034924 p.Lys195Arg Polymorphism rs17854892 -
BBS12 Q6ZW61 VAR_034925 p.Asn238Lys Polymorphism rs17006082 -
BBS12 Q6ZW61 VAR_034926 p.Ala289Pro Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
BBS12 Q6ZW61 VAR_034927 p.Arg386Gln Polymorphism rs309370 -
BBS12 Q6ZW61 VAR_034928 p.Ser429Thr Polymorphism rs7665271 -
BBS12 Q6ZW61 VAR_034929 p.Asn461His Polymorphism rs10027479 -
BBS12 Q6ZW61 VAR_034930 p.Asp467Asn Polymorphism rs13135778 -
BBS12 Q6ZW61 VAR_034931 p.Arg484Lys Polymorphism rs35690634 -
BBS12 Q6ZW61 VAR_034932 p.Gly540Val Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
BBS12 Q6ZW61 VAR_034933 p.Ala615Val Polymorphism rs17857451 -
BBS12 Q6ZW61 VAR_062964 p.Ile346Thr Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
BBS12 Q6ZW61 VAR_062965 p.Thr501Met Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
BBS12 Q6ZW61 VAR_066266 p.Leu88Arg Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
BBS12 Q6ZW61 VAR_066267 p.Gly119Ser Polymorphism rs77731085 -
BBS12 Q6ZW61 VAR_066268 p.Tyr263His Polymorphism rs150040166 -
BBS12 Q6ZW61 VAR_066269 p.Gln293Glu Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
BBS12 Q6ZW61 VAR_066270 p.Arg355Gln Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
BBS12 Q6ZW61 VAR_066271 p.Val400Met Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
BBS12 Q6ZW61 VAR_066272 p.Lys408Arg Unclassified - -
BBS12 Q6ZW61 VAR_066274 p.Tyr524Cys Unclassified - -
BBS12 Q6ZW61 VAR_066275 p.Arg525His Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
BBS12 Q6ZW61 VAR_066276 p.Gly539Asp Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
BBS12 Q6ZW61 VAR_066277 p.Arg674Cys Disease - Bardet-Biedl syndrome type 12 (BBS12) [MIM:209900]
BBS2 Q9BXC9 VAR_013162 p.Asn70Ser Disease rs4784677 Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_013163 p.Val75Gly Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_013164 p.Asp104Ala Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_013165 p.Ile123Val Polymorphism rs11373 -
BBS2 Q9BXC9 VAR_013166 p.Arg315Gln Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_013167 p.Arg315Trp Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_013168 p.Thr558Ile Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_013169 p.Arg632Pro Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_029747 p.Ala122Val Polymorphism rs17856449 -
BBS2 Q9BXC9 VAR_029748 p.Ala504Val Polymorphism rs16957538 -
BBS2 Q9BXC9 VAR_038889 p.Arg23Pro Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_038890 p.Asp174Glu Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_038891 p.Leu349Trp Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_038892 p.Arg643His Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_066280 p.Gly81Cys Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_066281 p.Leu125Arg Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_066282 p.Ala136Pro Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_066283 p.Cys307Trp Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_066284 p.Tyr317Cys Disease - Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]
BBS2 Q9BXC9 VAR_066285 p.Glu629Lys Unclassified - -
BBS4 Q96RK4 VAR_013170 p.Arg295Pro Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]
BBS4 Q96RK4 VAR_017049 p.Asn165His Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]
BBS4 Q96RK4 VAR_017050 p.Leu327Pro Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]
BBS4 Q96RK4 VAR_017051 p.Ala364Glu Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]
BBS4 Q96RK4 VAR_017052 p.Ser457Ile Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]
BBS4 Q96RK4 VAR_017053 p.Met472Val Disease rs2277596 Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]
BBS4 Q96RK4 VAR_017054 p.Ile354Thr Polymorphism rs2277598 -
BBS4 Q96RK4 VAR_028722 p.Glu268Lys Polymorphism rs11638283 -
BBS4 Q96RK4 VAR_028723 p.Ala393Val Polymorphism rs17852452 -
BBS4 Q96RK4 VAR_038894 p.Lys46Arg Polymorphism rs75295839 -
BBS4 Q96RK4 VAR_038895 p.Leu351Arg Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]
BBS4 Q96RK4 VAR_038896 p.Asp368Gly Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]
BBS4 Q96RK4 VAR_038897 p.Pro503Leu Disease - Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]
BBS4 Q96RK4 VAR_066287 p.Glu61Lys Unclassified - -
BBS4 Q96RK4 VAR_066288 p.Glu412Asp Polymorphism rs147202164 -
BBS4 Q96RK4 VAR_066289 p.Thr488Lys Unclassified - -
BBS5 Q8N3I7 VAR_025316 p.Asn184Ser Polymorphism rs150063999 -
BBS5 Q8N3I7 VAR_025317 p.Arg207His Polymorphism rs35487251 -
BBS5 Q8N3I7 VAR_066290 p.Gly72Ser Disease - Bardet-Biedl syndrome type 5 (BBS5) [MIM:209900]
BBS5 Q8N3I7 VAR_066291 p.Asn251Asp Polymorphism rs143113298 -
BBS7 Q8IWZ6 VAR_017212 p.Thr211Ile Disease - Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900]
BBS7 Q8IWZ6 VAR_017213 p.His323Arg Disease - Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900]
BBS7 Q8IWZ6 VAR_038893 p.Ile66Phe Disease - Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900]
BBS7 Q8IWZ6 VAR_065555 p.Tyr671Cys Unclassified - -
BBS7 Q8IWZ6 VAR_066286 p.Gly63Arg Disease - Bardet-Biedl syndrome type 7 (BBS7) [MIM:209900]
BBS7 Q8IWZ6 VAR_066459 p.Gln293Pro Unclassified - -
BBS9 Q3SYG4 VAR_026389 p.Gly141Arg Disease - Bardet-Biedl syndrome type 9 (BBS9) [MIM:209900]
BBS9 Q3SYG4 VAR_026390 p.Ala455Val Polymorphism rs11773504 -
BBS9 Q3SYG4 VAR_051289 p.Thr12Ala Polymorphism rs4498440 -
BBS9 Q3SYG4 VAR_051290 p.Ala455Thr Polymorphism rs11773504 -
BBS9 Q3SYG4 VAR_051291 p.Arg521Gln Polymorphism rs34218557 -
BBS9 Q3SYG4 VAR_066292 p.Thr549Ile Polymorphism rs59252892 -
BBS9 Q3SYG4 VAR_066293 p.Leu665Phe Polymorphism rs116262072 -
BBS9 Q3SYG4 VAR_066294 p.Leu779Gln Polymorphism rs142434516 -
BBX Q8WY36 VAR_061264 p.Pro576Ser Polymorphism rs59781647 -
BCAM P50895 VAR_021348 p.Arg77His Polymorphism rs28399653 -
BCAM P50895 VAR_021349 p.Val196Ile Polymorphism rs28399654 -
BCAM P50895 VAR_021350 p.Met204Lys Polymorphism rs28399656 -
BCAM P50895 VAR_021351 p.Arg282His Polymorphism rs9967601 -
BCAM P50895 VAR_021352 p.Val381Ile Polymorphism rs28399626 -
BCAM P50895 VAR_021353 p.Lys451Gln Polymorphism rs28399630 -
BCAM P50895 VAR_021354 p.Thr539Ala Polymorphism rs1135062 -
BCAM P50895 VAR_021355 p.Gln581Leu Polymorphism rs28399659 -
BCAN Q96GW7 VAR_019551 p.Glu504Lys Polymorphism rs1056695 -
BCAN Q96GW7 VAR_050123 p.Ser356Leu Polymorphism rs12065791 -
BCAR1 P56945 VAR_035798 p.Ser407Thr Unclassified - A breast cancer sample
BCAR1 P56945 VAR_057820 p.Arg491Leu Polymorphism rs16957558 -
BCAR1 P56945 VAR_057821 p.His558Arg Polymorphism rs16957552 -
BCAR1 P56945 VAR_058970 p.Pro76Ser Polymorphism rs1035539 -
BCAR3 O75815 VAR_050689 p.Glu464Gly Polymorphism rs12062278 -
BCAR3 O75815 VAR_050690 p.Gln593His Polymorphism rs17110107 -
BCAS1 O75363 VAR_024251 p.Gly255Glu Polymorphism rs6022903 -
BCAS1 O75363 VAR_026674 p.Gln24Lys Polymorphism rs394732 -
BCAS1 O75363 VAR_026675 p.Val163Ala Polymorphism rs158551 -
BCAS1 O75363 VAR_026676 p.Ser583Pro Polymorphism rs1055246 -
BCAS1 O75363 VAR_050691 p.Gln472His Polymorphism rs35575210 -
BCAS2 O75934 VAR_035799 p.Asn139Ser Unclassified - A colorectal cancer sample
BCAS3 Q9H6U6 VAR_057583 p.Ile106Val Polymorphism rs34712615 -
BCAS3 Q9H6U6 VAR_065093 p.Asn87Ser Polymorphism rs2643103 -
BCAS4 Q8TDM0 VAR_016031 p.Glu56Asp Polymorphism rs2272962 -
BCAS4 Q8TDM0 VAR_059590 p.Arg173His Polymorphism rs7273412 -
BCAT1 P54687 VAR_019614 p.Glu321Lys Polymorphism rs7313020 -
BCAT1 P54687 VAR_047681 p.Thr59Met Polymorphism rs17374285 -
BCAT1 P54687 VAR_047682 p.Gly330Ser Polymorphism rs1057204 -
BCAT2 O15382 VAR_048234 p.Thr186Arg Polymorphism rs11548193 -
BCCIP Q9P287 VAR_046642 p.Glu254Gln Polymorphism rs17153610 -
BCDIN3D Q7Z5W3 VAR_032614 p.Ser288Arg Polymorphism rs11169172 -
BCHE P06276 VAR_002360 p.Asp98Gly Disease rs1799807 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_002362 p.Leu358Ile Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_002364 p.Ala567Thr Disease rs1803274 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040012 p.Thr52Met Disease rs56309853 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040013 p.Phe56Ile Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040014 p.Tyr61Cys Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040015 p.Pro65Ser Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040016 p.Asp98His Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040017 p.Asn124Tyr Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040018 p.Pro128Ser Disease rs3732880 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040019 p.Gly143Asp Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040020 p.Leu153Phe Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040021 p.Tyr156Cys Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040022 p.Val170Met Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040023 p.Asp198Glu Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040024 p.Ser226Gly Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040025 p.Ala227Val Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040026 p.Ala229Thr Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040027 p.Thr271Met Disease rs28933389 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040028 p.Thr278Pro Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040029 p.Glu283Asp Polymorphism rs16849700 -
BCHE P06276 VAR_040030 p.Lys295Arg Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040031 p.Leu335Pro Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040032 p.Ala356Asp Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040033 p.Gly393Arg Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040034 p.Arg414Cys Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040035 p.Gly418Val Disease rs28933390 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040036 p.Phe446Ser Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040037 p.Glu488Lys Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040038 p.Trp499Arg Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040039 p.Phe502Leu Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040040 p.Glu525Val Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040041 p.Arg543Cys Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCHE P06276 VAR_040042 p.Gln546Leu Disease - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
BCKDHA P12694 VAR_004968 p.Arg159Trp Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600]
BCKDHA P12694 VAR_004969 p.Gln190Lys Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600]
BCKDHA P12694 VAR_004970 p.Ala253Thr Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600]
BCKDHA P12694 VAR_004971 p.Ile326Thr Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600]
BCKDHA P12694 VAR_004972 p.Tyr413Cys Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600]
BCKDHA P12694 VAR_004973 p.Tyr438Asn Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600]
BCKDHA P12694 VAR_015101 p.Gly290Arg Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600]
BCKDHA P12694 VAR_015102 p.Phe409Cys Disease - Maple syrup urine disease type IA (MSUD1A) [MIM:248600]
BCKDHA P12694 VAR_034360 p.Pro39His Polymorphism rs34589432 -
BCKDHA P12694 VAR_034361 p.Thr151Met Polymorphism rs34442879 -
BCKDHB P21953 VAR_004974 p.His206Arg Disease - Maple syrup urine disease type IB (MSUD1B) [MIM:248600]
BCKDHB P21953 VAR_024851 p.Arg183Pro Disease rs28934895 Maple syrup urine disease type IB (MSUD1B) [MIM:248600]
BCKDHB P21953 VAR_024852 p.Gly278Ser Disease - Maple syrup urine disease type IB (MSUD1B) [MIM:248600]
BCKDHB P21953 VAR_050437 p.Thr41Ile Polymorphism rs35470366 -
BCL10 O95999 VAR_013208 p.Ala5Ser Unclassified rs12037217 MALT lymphoma
BCL10 O95999 VAR_013209 p.Val16Glu Unclassified - MALT lymphoma
BCL10 O95999 VAR_013210 p.Lys31Glu Unclassified - MALT lymphoma
BCL10 O95999 VAR_013211 p.Lys45Gln Unclassified - -
BCL10 O95999 VAR_013212 p.Thr52Ile Unclassified - -
BCL10 O95999 VAR_013213 p.Cys57Arg Unclassified - MALT lymphoma
BCL10 O95999 VAR_013214 p.Arg58Gly Unclassified - Germ cell tumor
BCL10 O95999 VAR_013215 p.Arg58Gln Unclassified - -
BCL10 O95999 VAR_013216 p.Arg64Lys Unclassified - MALT lymphoma
BCL10 O95999 VAR_013217 p.Asn93Ser Unclassified - -
BCL10 O95999 VAR_013218 p.Asp101Glu Unclassified - MALT lymphoma
BCL10 O95999 VAR_013219 p.Ser134Pro Unclassified - MALT lymphoma
BCL10 O95999 VAR_013220 p.Met153Val Unclassified - -
BCL10 O95999 VAR_013221 p.Thr168Ala Unclassified - MALT lymphoma
BCL10 O95999 VAR_013222 p.Leu174Ser Unclassified - MALT lymphoma
BCL10 O95999 VAR_013224 p.Gly213Glu Unclassified rs3768235 MALT lymphoma
BCL10 O95999 VAR_013225 p.Ser218Phe Unclassified - Germ cell tumor
BCL10 O95999 VAR_013226 p.Val230Ile Unclassified - MALT lymphoma
BCL11A Q9H165 VAR_035553 p.Ser142Phe Unclassified - A breast cancer sample
BCL11B Q9C0K0 VAR_035554 p.Ser331Pro Unclassified - A colorectal cancer sample
BCL11B Q9C0K0 VAR_065741 p.Glu32Val Unclassified - -
BCL11B Q9C0K0 VAR_065742 p.Pro229Ser Unclassified - -
BCL2 P10415 VAR_000827 p.Thr7Ser Polymorphism - -
BCL2 P10415 VAR_000828 p.Pro59Ser Unclassified - Non-Hodgkin lymphoma
BCL2 P10415 VAR_000829 p.Val93Ile Unclassified - Non-Hodgkin lymphoma
BCL2 P10415 VAR_014716 p.Ala43Thr Polymorphism rs1800477 -
BCL2A1 Q16548 VAR_020342 p.Cys19Tyr Polymorphism rs1138357 -
BCL2A1 Q16548 VAR_020343 p.Asn39Lys Polymorphism rs1138358 -
BCL2A1 Q16548 VAR_020344 p.Gly82Asp Polymorphism rs3826007 -
BCL2A1 Q16548 VAR_044059 p.Glu117Asp Polymorphism rs34080999 -
BCL2L10 Q9HD36 VAR_047113 p.Leu11Arg Polymorphism rs2231292 -
BCL2L12 Q9HB09 VAR_048419 p.Gly47Val Polymorphism rs2060263 -
BCL2L13 Q9BXK5 VAR_024377 p.Ile55Val Polymorphism rs16981016 -
BCL2L13 Q9BXK5 VAR_024378 p.Pro360Ser Polymorphism rs9306198 -
BCL2L13 Q9BXK5 VAR_059141 p.Ile46Arg Polymorphism rs2587070 -
BCL2L13 Q9BXK5 VAR_059142 p.Ile46Thr Polymorphism rs2587070 -
BCL2L15 Q5TBC7 VAR_031475 p.Asp90Asn Polymorphism rs1217381 -
BCL2L2 Q92843 VAR_048418 p.Gln133Arg Polymorphism rs910332 -
BCL6 P41182 VAR_014825 p.His676Tyr Polymorphism rs1056936 -
BCL6 P41182 VAR_019970 p.Ala493Thr Polymorphism rs2229362 -
BCL6 P41182 VAR_052709 p.Asn252Ser Polymorphism rs34463990 -
BCL7A Q4VC05 VAR_033539 p.Asn120Thr Polymorphism rs34821485 -
BCL9 O00512 VAR_046545 p.Pro671Ser Polymorphism rs3820129 -
BCL9 O00512 VAR_046546 p.Arg782Lys Polymorphism rs34002844 -
BCLAF1 Q9NYF8 VAR_050692 p.Ser209Cys Polymorphism rs6940018 -
BCLAF1 Q9NYF8 VAR_050693 p.Tyr459Asp Polymorphism rs1967446 -
BCLAF1 Q9NYF8 VAR_050694 p.Leu461His Polymorphism rs1967445 -
BCLAF1 Q9NYF8 VAR_050695 p.Asn629Ser Polymorphism rs7381749 -
BCLAF1 Q9NYF8 VAR_050696 p.Arg875Cys Polymorphism rs34541670 -
BCLAF1 Q9NYF8 VAR_059591 p.Gly66Ala Polymorphism rs9942517 -
BCMO1 Q9HAY6 VAR_048406 p.Arg267Ser Polymorphism rs12934922 -
BCMO1 Q9HAY6 VAR_048407 p.Ala379Val Polymorphism rs7501331 -
BCMO1 Q9HAY6 VAR_058112 p.Thr170Met Disease - Autosomal dominant hypercarotenemia and vitamin A deficiency (ADHVAD) [MIM:115300]
BCO2 Q9BYV7 VAR_047047 p.Leu231Pro Polymorphism rs10891338 -
BCO2 Q9BYV7 VAR_047048 p.Gly289Glu Polymorphism rs17113607 -
BCO2 Q9BYV7 VAR_047049 p.Ile548Leu Polymorphism rs2217401 -
BCOR Q6W2J9 VAR_020921 p.Pro85Leu Disease rs28935183 Microphthalmia syndromic type 2 (MCOPS2) [MIM:300166]
BCORL1 Q5H9F3 VAR_037467 p.Gly209Ser Polymorphism rs5932715 -
BCORL1 Q5H9F3 VAR_037468 p.Gly832Asp Unclassified - A breast cancer sample
BCORL1 Q5H9F3 VAR_061020 p.Phe111Leu Polymorphism rs4830173 -
BCR P11274 VAR_031552 p.Asn796Ser Polymorphism rs140504 -
BCR P11274 VAR_031553 p.Glu1037Lys Polymorphism rs16999516 -
BCR P11274 VAR_031554 p.Thr1127Met Polymorphism rs35812689 -
BCR P11274 VAR_041883 p.Ser400Pro Unclassified - A bladder transitional cell carcinoma sample
BCR P11274 VAR_041884 p.Ile413Met Polymorphism rs56321828 -
BCR P11274 VAR_041885 p.Asp752Glu Polymorphism rs12484731 -
BCR P11274 VAR_041886 p.Tyr910Cys Polymorphism rs35537221 -
BCR P11274 VAR_041887 p.Val949Ile Polymorphism rs2229038 -
BCR P11274 VAR_041888 p.Val1091Met Polymorphism - -
BCR P11274 VAR_041889 p.Thr1096Ala Polymorphism - -
BCR P11274 VAR_041890 p.Ala1104Gly Polymorphism - -
BCR P11274 VAR_041891 p.Asp1106Asn Polymorphism - -
BCR P11274 VAR_041892 p.Ala1149Thr Polymorphism - -
BCR P11274 VAR_041893 p.Glu1161Lys Polymorphism - -
BCR P11274 VAR_041894 p.Lys1187Glu Polymorphism - -
BCR P11274 VAR_041895 p.Val1189Met Polymorphism rs55816482 -
BCR P11274 VAR_041896 p.Ala1204Gly Polymorphism rs56265970 -
BCR P11274 VAR_041897 p.Trp1235Arg Polymorphism rs55719322 -
BCR P11274 VAR_051983 p.Lys558Thr Polymorphism rs4437065 -
BCS1L Q9Y276 VAR_018149 p.Ser78Gly Disease rs28937590 GRACILE syndrome (GRACILE) [MIM:603358]
BCS1L Q9Y276 VAR_018159 p.Pro99Leu Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
BCS1L Q9Y276 VAR_018160 p.Arg144Gln Disease - GRACILE syndrome (GRACILE) [MIM:603358]
BCS1L Q9Y276 VAR_018161 p.Arg155Pro Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
BCS1L Q9Y276 VAR_018162 p.Ser277Asn Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
BCS1L Q9Y276 VAR_018163 p.Val327Ala Disease - GRACILE syndrome (GRACILE) [MIM:603358]
BCS1L Q9Y276 VAR_018164 p.Val353Met Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
BCS1L Q9Y276 VAR_032086 p.Gly35Arg Disease - Bjoernstad syndrome (BJS) [MIM:262000]
BCS1L Q9Y276 VAR_032087 p.Arg45Cys Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
BCS1L Q9Y276 VAR_032088 p.Arg114Trp Disease - Bjoernstad syndrome (BJS) [MIM:262000]
BCS1L Q9Y276 VAR_032089 p.Arg183His Disease - Bjoernstad syndrome (BJS) [MIM:262000]
BCS1L Q9Y276 VAR_032090 p.Arg184Cys Disease - Bjoernstad syndrome (BJS) [MIM:262000]
BCS1L Q9Y276 VAR_032090 p.Arg184Cys Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
BCS1L Q9Y276 VAR_032091 p.Gln302Glu Disease - Bjoernstad syndrome (BJS) [MIM:262000]
BCS1L Q9Y276 VAR_032092 p.Arg306His Disease - Bjoernstad syndrome (BJS) [MIM:262000]
BCS1L Q9Y276 VAR_064615 p.Thr50Ala Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
BCS1L Q9Y276 VAR_064616 p.Arg73Cys Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
BCS1L Q9Y276 VAR_064617 p.Arg183Cys Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
BCS1L Q9Y276 VAR_064618 p.Phe368Ile Disease - Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]
BDH2 Q9BUT1 VAR_023602 p.Asn70Ser Polymorphism rs1054707 -
BDKRB1 P46663 VAR_014359 p.Ala250Val Polymorphism rs2229459 -
BDKRB1 P46663 VAR_049376 p.Arg317Gln Polymorphism rs8004609 -
BDKRB2 P30411 VAR_003457 p.Arg14Cys Polymorphism rs1046248 -
BDKRB2 P30411 VAR_012284 p.Gly354Glu Polymorphism rs2227279 -
BDNF P23560 VAR_004626 p.Val66Met Polymorphism rs6265 -
BDNF P23560 VAR_011797 p.Gln75His Polymorphism rs1048218 -
BDNF P23560 VAR_011798 p.Arg125Met Polymorphism rs1048220 -
BDNF P23560 VAR_011799 p.Arg127Leu Polymorphism rs1048221 -
BDNF P23560 VAR_018260 p.Thr2Ile Disease rs8192466 Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
BDP1 A6H8Y1 VAR_043312 p.Asp38Glu Polymorphism rs3748043 -
BDP1 A6H8Y1 VAR_043313 p.Arg757Cys Polymorphism rs3761966 -
BDP1 A6H8Y1 VAR_043314 p.Val778Met Polymorphism rs3761967 -
BDP1 A6H8Y1 VAR_043315 p.Ile1264Met Polymorphism rs715747 -
BDP1 A6H8Y1 VAR_043316 p.Val1347Met Polymorphism rs6886336 -
BDP1 A6H8Y1 VAR_043317 p.Lys1469Glu Polymorphism rs1698063 -
BDP1 A6H8Y1 VAR_043318 p.Ile2013Leu Polymorphism rs6453014 -
BDP1 A6H8Y1 VAR_056743 p.Asn26Ser Polymorphism rs3748042 -
BDP1 A6H8Y1 VAR_056744 p.Ala125Val Polymorphism rs9687593 -
BDP1 A6H8Y1 VAR_056745 p.Lys722Glu Polymorphism rs36009281 -
BDP1 A6H8Y1 VAR_056746 p.Gly1180Ser Polymorphism rs715748 -
BDP1 A6H8Y1 VAR_056747 p.Phe1244Ile Polymorphism rs1961760 -
BDP1 A6H8Y1 VAR_056748 p.Gln1676Glu Polymorphism rs12187098 -
BDP1 A6H8Y1 VAR_056749 p.Asn2555Ser Polymorphism rs17276250 -
BECN1 Q14457 VAR_005236 p.Ile403Thr Polymorphism - -
BECN1 Q14457 VAR_010384 p.Ala103Val Polymorphism - -
BEND2 Q8NDZ0 VAR_022885 p.Phe154Leu Polymorphism rs17274127 -
BEND2 Q8NDZ0 VAR_050935 p.Ser188Phe Polymorphism rs12859329 -
BEND7 Q8N7W2 VAR_035501 p.Arg313Thr Unclassified - A breast cancer sample
BEND7 Q8N7W2 VAR_057830 p.Asn341Ser Polymorphism rs12247033 -
BEST1 O76090 VAR_000830 p.Thr6Pro Disease rs28940275 Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]
BEST1 O76090 VAR_000830 p.Thr6Pro Disease rs28940275 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000831 p.Val9Ala Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000832 p.Val9Met Disease rs28940276 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000833 p.Ala10Thr Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000834 p.Leu21Val Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000835 p.Trp24Cys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000836 p.Arg25Gln Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000837 p.Arg25Trp Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000838 p.Ser27Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000839 p.Gln58Leu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000840 p.Leu67Val Polymorphism - -
BEST1 O76090 VAR_000841 p.Tyr85His Disease rs28940274 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000842 p.Arg92Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000843 p.Trp93Cys Disease rs28940273 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000844 p.Asn99Lys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000845 p.Leu100Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000846 p.Asp104Glu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000847 p.Arg141His Disease - Bestrophinopathy autosomal recessive (ARB) [MIM:611809]
BEST1 O76090 VAR_000847 p.Arg141His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000848 p.Ser209Asn Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000849 p.Arg218Cys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000850 p.Arg218Gln Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000851 p.Arg218Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000852 p.Leu224Met Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000853 p.Tyr227Cys Disease - Retinitis pigmentosa type 50 (RP50) [MIM:613194]
BEST1 O76090 VAR_000854 p.Tyr227Asn Disease rs28941469 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000855 p.Ser231Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000856 p.Val235Met Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000857 p.Thr237Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000858 p.Ala243Val Disease rs28940570 Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]
BEST1 O76090 VAR_000858 p.Ala243Val Disease rs28940570 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000860 p.Pro297Ala Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000861 p.Gly299Glu Disease rs28941468 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000862 p.Glu300Lys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000863 p.Asp301Glu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000864 p.Asp301Asn Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000865 p.Phe305Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000866 p.Ile310Thr Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000867 p.Val311Gly Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_000868 p.Asp312Asn Disease - Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]
BEST1 O76090 VAR_000868 p.Asp312Asn Disease - Bestrophinopathy autosomal recessive (ARB) [MIM:611809]
BEST1 O76090 VAR_009278 p.Glu578Val Polymorphism rs1800010 -
BEST1 O76090 VAR_010468 p.Ala10Val Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010469 p.Arg13His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010470 p.Ser16Phe Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010471 p.Phe17Cys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010472 p.Ile73Asn Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010473 p.Leu82Val Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010474 p.Arg92Cys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010475 p.Arg92His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010476 p.Gln96His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010477 p.Glu119Gln Polymorphism rs1805142 -
BEST1 O76090 VAR_010478 p.Gly135Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010479 p.Ala146Lys Disease rs1800995 Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]
BEST1 O76090 VAR_010480 p.Thr216Ile Unclassified - -
BEST1 O76090 VAR_010481 p.Arg218His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010482 p.Val235Leu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010483 p.Gln293Lys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010484 p.Asn296Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010485 p.Pro297Ser Disease rs1805143 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010486 p.Glu300Asp Disease rs1805144 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010487 p.Thr307Ile Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_010488 p.Glu525Ala Polymorphism - -
BEST1 O76090 VAR_010489 p.Glu557Lys Polymorphism - -
BEST1 O76090 VAR_010490 p.Thr561Ala Polymorphism - -
BEST1 O76090 VAR_010491 p.Leu567Phe Polymorphism - -
BEST1 O76090 VAR_017366 p.Thr6Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017367 p.Asn11Ile Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017368 p.Gly26Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017369 p.Tyr29His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017370 p.Lys30Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017371 p.Leu41Pro Disease - Bestrophinopathy autosomal recessive (ARB) [MIM:611809]
BEST1 O76090 VAR_017371 p.Leu41Pro Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017372 p.Arg47His Disease rs28940278 Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]
BEST1 O76090 VAR_017373 p.Phe80Leu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017374 p.Val89Ala Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017375 p.Thr91Ile Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017376 p.Pro101Thr Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017377 p.Trp102Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017378 p.Asp104His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017379 p.Asn133Lys Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017380 p.Leu140Arg Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_017381 p.Ala195Val Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025731 p.Arg105Cys Unclassified - -
BEST1 O76090 VAR_025732 p.Phe113Leu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025733 p.Ile201Thr Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025734 p.Leu207Ile Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025735 p.Cys221Trp Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025736 p.Gly222Val Unclassified - -
BEST1 O76090 VAR_025737 p.Leu224Pro Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025738 p.Thr241Asn Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025739 p.Ala243Thr Disease rs28940570 Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025740 p.Val275Ile Unclassified - -
BEST1 O76090 VAR_025741 p.Phe276Leu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025742 p.Leu294Val Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025743 p.Ile295Thr Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025744 p.Asn296His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025745 p.Phe298Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025746 p.Asp302Gly Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025747 p.Asp302His Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025748 p.Asp302Val Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025749 p.Asp303Glu Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025750 p.Glu306Asp Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025751 p.Glu306Gly Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025752 p.Thr307Ala Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_025753 p.Asn308Ser Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_043493 p.Pro152Ala Disease - Bestrophinopathy autosomal recessive (ARB) [MIM:611809]
BEST1 O76090 VAR_043494 p.Val317Met Disease - Bestrophinopathy autosomal recessive (ARB) [MIM:611809]
BEST1 O76090 VAR_043495 p.Met325Thr Disease - Bestrophinopathy autosomal recessive (ARB) [MIM:611809]
BEST1 O76090 VAR_043496 p.Ala357Val Polymorphism rs17854138 -
BEST1 O76090 VAR_058273 p.Ile3Thr Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_058274 p.Val86Met Disease - Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]
BEST1 O76090 VAR_058275 p.Tyr236Cys Disease - Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]
BEST1 O76090 VAR_058276 p.Val239Met Disease - Vitreoretinochoroidopathy autosomal dominant (ADVIRC) [MIM:193220]
BEST1 O76090 VAR_058277 p.Val242Met Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_058313 p.Gly299Ala Disease - Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
BEST1 O76090 VAR_063169 p.Leu140Val Disease - Retinitis pigmentosa type 50 (RP50) [MIM:613194]
BEST1 O76090 VAR_063170 p.Ile205Thr Disease - Retinitis pigmentosa type 50 (RP50) [MIM:613194]
BEST1 O76090 VAR_063171 p.Asp228Asn Disease - Retinitis pigmentosa type 50 (RP50) [MIM:613194]
BEST3 Q8N1M1 VAR_048409 p.Tyr43His Polymorphism rs1025016 -
BEST3 Q8N1M1 VAR_048410 p.Glu622Gly Polymorphism rs17106884 -
BEST4 Q8NFU0 VAR_048411 p.Tyr62Cys Polymorphism rs16832245 -
BEST4 Q8NFU0 VAR_048412 p.Tyr217Ser Polymorphism rs16832242 -
BEST4 Q8NFU0 VAR_048413 p.Gln331Glu Polymorphism rs16832241 -
BEST4 Q8NFU0 VAR_048414 p.Arg402Leu Polymorphism rs16832239 -
BEX1 Q9HBH7 VAR_025756 p.Ala40Val Polymorphism rs709036 -
BEX1 Q9HBH7 VAR_025757 p.Met66Ile Polymorphism rs1045082 -
BEX1 Q9HBH7 VAR_042667 p.Val9Leu Polymorphism rs3174500 -
BEX1 Q9HBH7 VAR_042668 p.Ser11Asn Polymorphism rs1045058 -
BEX1 Q9HBH7 VAR_042669 p.Ser13Ile Polymorphism rs1045061 -
BEX1 Q9HBH7 VAR_042670 p.Met14Val Polymorphism rs1045063 -
BEX1 Q9HBH7 VAR_042671 p.Ala17Val Polymorphism rs1045065 -
BFAR Q9NZS9 VAR_052075 p.Met140Arg Polymorphism rs11546303 -
BFAR Q9NZS9 VAR_052076 p.Arg245His Polymorphism rs35377618 -
BFSP1 Q12934 VAR_024492 p.Gly345Ser Polymorphism rs6080719 -
BFSP1 Q12934 VAR_036683 p.Asp656Glu Polymorphism rs16999317 -
BFSP2 Q13515 VAR_012164 p.Arg287Trp Disease - Cataract autosomal dominant BFSP2-related (ADC-BFSP2) [MIM:611597]
BGLAP P02818 VAR_038743 p.Arg94Gln Polymorphism rs34702397 -
BGN P21810 VAR_036605 p.Arg266Thr Unclassified - A breast cancer sample
BGN P21810 VAR_036606 p.Lys288Asn Unclassified - A breast cancer sample
BHLHB9 Q6PI77 VAR_049266 p.Ser132Gly Polymorphism rs2179675 -
BHLHB9 Q6PI77 VAR_049267 p.Cys318Arg Polymorphism rs4514179 -
BHLHE22 Q8NFJ8 VAR_061255 p.Ser28Ala Polymorphism rs7016250 -
BHLHE41 Q9C0J9 VAR_063259 p.Pro384Arg Unclassified - -
BHMT Q93088 VAR_015886 p.Arg239Gln Polymorphism rs3733890 -
BHMT Q93088 VAR_061345 p.Gly199Ser Polymorphism rs59866108 -
BICC1 Q9H694 VAR_029658 p.Gly8Asp Polymorphism rs7905025 -
BICC1 Q9H694 VAR_033542 p.Ser943Pro Polymorphism rs4948550 -
BICC1 Q9H694 VAR_060133 p.Asn945Ser Polymorphism rs7895817 -
BICC1 Q9H694 VAR_066759 p.Asn711Thr Polymorphism - -
BICC1 Q9H694 VAR_066760 p.Glu932Gly Unclassified - -
BID P55957 VAR_018845 p.Ser10Gly Polymorphism rs8190315 -
BID P55957 VAR_025332 p.His162Gln Polymorphism rs17853595 -
BID P55957 VAR_061041 p.Met194Thr Polymorphism rs59225839 -
BIK Q13323 VAR_029179 p.Glu19Lys Polymorphism rs4988415 -
BIK Q13323 VAR_029180 p.Leu148Pro Polymorphism rs11574527 -
BIK Q13323 VAR_048420 p.Thr26Ile Polymorphism rs11090143 -
BIN1 O00499 VAR_037425 p.Lys35Asn Disease - Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]
BIN1 O00499 VAR_037426 p.Asp151Asn Disease - Centronuclear myopathy autosomal recessive (ARCNM) [MIM:255200]
BIN2 Q9UBW5 VAR_028883 p.Ser48Asn Polymorphism rs7312857 -
BIN2 Q9UBW5 VAR_028884 p.Asn529Asp Polymorphism rs7954976 -
BIRC2 Q13490 VAR_025016 p.Met453Val Polymorphism - -
BIRC2 Q13490 VAR_025017 p.Ala506Val Polymorphism rs34510872 -
BIRC2 Q13490 VAR_025018 p.Pro549Ser Polymorphism rs35494784 -
BIRC2 Q13490 VAR_049535 p.Met453Ile Polymorphism rs34749508 -
BIRC3 Q13489 VAR_021069 p.Lys260Arg Polymorphism rs2276113 -
BIRC3 Q13489 VAR_021070 p.Arg401Lys Polymorphism rs17881197 -
BIRC3 Q13489 VAR_049536 p.Val386Met Polymorphism rs12222256 -
BIRC5 O15392 VAR_021071 p.Glu129Lys Polymorphism rs2071214 -
BIRC7 Q96CA5 VAR_020253 p.Glu223Gln Polymorphism rs1077019 -
BIRC8 Q96P09 VAR_028282 p.His196Tyr Polymorphism rs8109165 -
BIRC8 Q96P09 VAR_055944 p.Ala156Thr Polymorphism rs35880972 -
BIRC8 Q96P09 VAR_055945 p.Leu165Ser Polymorphism rs34092035 -
BIRC8 Q96P09 VAR_055946 p.Ala225Thr Polymorphism rs35700345 -
BIRC8 Q96P09 VAR_055947 p.Ala225Val Polymorphism rs34683072 -
BLID Q8IZY5 VAR_056750 p.Ala76Asp Polymorphism rs7116084 -
BLK P51451 VAR_041672 p.Thr48Ile Polymorphism rs35339715 -
BLK P51451 VAR_041673 p.Ala71Thr Polymorphism rs55758736 -
BLM P54132 VAR_006901 p.Gln672Arg Disease - Bloom syndrome (BLM) [MIM:210900]
BLM P54132 VAR_006902 p.Thr843Ile Disease - Bloom syndrome (BLM) [MIM:210900]
BLM P54132 VAR_006903 p.Cys1055Ser Disease - Bloom syndrome (BLM) [MIM:210900]
BLM P54132 VAR_009138 p.Gly891Glu Disease - Bloom syndrome (BLM) [MIM:210900]
BLM P54132 VAR_009139 p.Cys901Tyr Disease - Bloom syndrome (BLM) [MIM:210900]
BLM P54132 VAR_009140 p.Cys1036Phe Disease - Bloom syndrome (BLM) [MIM:210900]
BLM P54132 VAR_014912 p.Ser1209Thr Polymorphism rs1801256 -
BLM P54132 VAR_016032 p.Ile841Thr Disease - Bloom syndrome (BLM) [MIM:210900]
BLM P54132 VAR_016033 p.Cys878Arg Disease - Bloom syndrome (BLM) [MIM:210900]
BLM P54132 VAR_022295 p.Lys137Arg Polymorphism rs28384988 -
BLM P54132 VAR_022296 p.Thr298Met Polymorphism rs28384991 -
BLM P54132 VAR_022297 p.Arg591Gln Polymorphism rs28385012 -
BLM P54132 VAR_022298 p.Pro868Leu Polymorphism rs11852361 -
BLM P54132 VAR_022299 p.Val1205Ile Polymorphism rs28385141 -
BLM P54132 VAR_022300 p.Glu1213Lys Polymorphism rs28385142 -
BLM P54132 VAR_022301 p.Val1321Ile Polymorphism rs7167216 -
BLM P54132 VAR_051731 p.Ala1043Asp Polymorphism rs2229035 -
BLMH Q13867 VAR_010896 p.Ile443Val Polymorphism rs1050565 -
BLOC1S2 Q6QNY1 VAR_054068 p.Ser13Arg Polymorphism rs33965491 -
BLVRA P53004 VAR_014851 p.Gln56Arg Polymorphism rs1050916 -
BLVRA P53004 VAR_019230 p.Ala3Thr Polymorphism rs699512 -
BLVRA P53004 VAR_019231 p.Leu37Val Polymorphism rs17245918 -
BLVRB P30043 VAR_019168 p.Arg46Gln Polymorphism rs11547746 -
BLZF1 Q9H2G9 VAR_028142 p.Gln40Arg Polymorphism rs1028180 -
BLZF1 Q9H2G9 VAR_028143 p.Arg196Gln Polymorphism rs1064274 -
BMI1 P35226 VAR_052087 p.Cys18Tyr Polymorphism rs1042059 -
BMP1 P13497 VAR_036141 p.Asp45His Unclassified - A breast cancer sample
BMP1 P13497 VAR_051584 p.Val719Ile Polymorphism rs11996036 -
BMP10 O95393 VAR_052572 p.Thr200Ser Polymorphism rs2231342 -
BMP10 O95393 VAR_052573 p.Asn250Lys Polymorphism rs2231345 -
BMP15 O95972 VAR_021195 p.Tyr235Cys Disease - Ovarian dysgenesis type 2 (ODG2) [MIM:300510]
BMP15 O95972 VAR_058974 p.Ser5Arg Polymorphism rs113099187 -
BMP15 O95972 VAR_058975 p.Arg61Gln Disease - Premature ovarian failure type 4 (POF4) [MIM:300510]
BMP15 O95972 VAR_058976 p.Arg61Trp Disease - Premature ovarian failure type 4 (POF4) [MIM:300510]
BMP15 O95972 VAR_058977 p.Arg68Trp Disease - Premature ovarian failure type 4 (POF4) [MIM:300510]
BMP15 O95972 VAR_058978 p.Arg76Cys Disease - Premature ovarian failure type 4 (POF4) [MIM:300510]
BMP15 O95972 VAR_058979 p.Arg76His Disease - Premature ovarian failure type 4 (POF4) [MIM:300510]
BMP15 O95972 VAR_058980 p.Asn103Ser Polymorphism rs41308602 -
BMP15 O95972 VAR_058981 p.Arg138His Disease - Premature ovarian failure type 4 (POF4) [MIM:300510]
BMP15 O95972 VAR_058982 p.Leu148Pro Disease - Premature ovarian failure type 4 (POF4) [MIM:300510]
BMP15 O95972 VAR_058983 p.Ala180Phe Unclassified - -
BMP15 O95972 VAR_058984 p.Ala180Thr Disease - Premature ovarian failure type 4 (POF4) [MIM:300510]
BMP15 O95972 VAR_058985 p.Asn196Lys Disease - Premature ovarian failure type 4 (POF4) [MIM:300510]
BMP15 O95972 VAR_058986 p.Arg206His Disease - Premature ovarian failure type 4 (POF4) [MIM:300510]
BMP15 O95972 VAR_058987 p.Trp221Arg Disease - Premature ovarian failure type 4 (POF4) [MIM:300510]
BMP15 O95972 VAR_058988 p.Ile243Val Disease - Premature ovarian failure type 4 (POF4) [MIM:300510]
BMP15 O95972 VAR_066932 p.His200Tyr Polymorphism - -
BMP15 O95972 VAR_066933 p.Arg329Cys Disease - Premature ovarian failure type 4 (POF4) [MIM:300510]
BMP2 P12643 VAR_020061 p.Ser37Ala Polymorphism rs2273073 -
BMP2 P12643 VAR_020062 p.Ala106Thr Polymorphism rs2273074 -
BMP2 P12643 VAR_024232 p.Arg190Ser Polymorphism rs235768 -
BMP2 P12643 VAR_052568 p.Pro77Ser Polymorphism rs36105541 -
BMP2 P12643 VAR_052569 p.Leu161Ser Polymorphism rs34183594 -
BMP2 P12643 VAR_052570 p.Asp387Gly Polymorphism rs11545591 -
BMP2K Q9NSY1 VAR_040388 p.Val68Met Unclassified - A lung squamous cell carcinoma sample
BMP2K Q9NSY1 VAR_040389 p.Asp212Val Polymorphism - -
BMP2K Q9NSY1 VAR_040390 p.Arg288His Polymorphism - -
BMP2K Q9NSY1 VAR_051618 p.Gly405Ser Polymorphism rs2288255 -
BMP2K Q9NSY1 VAR_051619 p.Thr1002Ser Polymorphism rs12507099 -
BMP2K Q9NSY1 VAR_059765 p.Gln486His Polymorphism rs2114202 -
BMP3 P12645 VAR_020063 p.Arg192Gln Polymorphism rs3733549 -
BMP3 P12645 VAR_047418 p.Gln176Lys Polymorphism rs34213771 -
BMP3 P12645 VAR_047419 p.Gln176Leu Polymorphism rs34847147 -
BMP3 P12645 VAR_047420 p.Leu205Phe Polymorphism rs6831040 -
BMP3 P12645 VAR_047421 p.Thr222Met Polymorphism rs34505126 -
BMP4 P12644 VAR_016174 p.Val152Ala Polymorphism rs17563 -
BMP4 P12644 VAR_043531 p.Ser91Cys Disease - Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]
BMP4 P12644 VAR_043532 p.Glu93Gly Disease - Microphthalmia syndromic type 6 (MCOPS6) [MIM:607932]
BMP4 P12644 VAR_043533 p.Thr116Ser Unclassified - -
BMP4 P12644 VAR_043534 p.Asn150Lys Unclassified - -
BMP4 P12644 VAR_043535 p.Thr225Ala Polymorphism - -
BMP4 P12644 VAR_043536 p.Arg226Trp Polymorphism - -
BMP4 P12644 VAR_043537 p.Ser367Thr Polymorphism - -
BMP4 P12644 VAR_058314 p.Thr102Ala Polymorphism - -
BMP4 P12644 VAR_058315 p.Arg162Gln Disease - Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]
BMP4 P12644 VAR_058316 p.Gly168Ala Polymorphism - -
BMP4 P12644 VAR_058317 p.Arg287His Disease - Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]
BMP4 P12644 VAR_058318 p.Ala346Val Disease - Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]
BMP5 P22003 VAR_047054 p.His2Tyr Polymorphism rs9475437 -
BMP5 P22003 VAR_061896 p.Asn121Ser Polymorphism rs35124644 -
BMP6 P22004 VAR_036200 p.Ala343Asp Unclassified - A colorectal cancer sample
BMP6 P22004 VAR_036201 p.Pro476Leu Unclassified - A colorectal cancer sample
BMP6 P22004 VAR_047055 p.Arg257Cys Polymorphism rs10458105 -
BMP7 P18075 VAR_064058 p.Leu198Pro Unclassified - -
BMP7 P18075 VAR_064059 p.Asn321Ser Polymorphism - -
BMP8A Q7Z5Y6 VAR_052571 p.Arg293His Polymorphism rs6525 -
BMP8A Q7Z5Y6 VAR_059859 p.Met84Val Polymorphism rs4660269 -
BMP8B P34820 VAR_014474 p.His293Arg Polymorphism rs6525 -
BMPER Q8N8U9 VAR_028166 p.Arg555Trp Polymorphism rs10249320 -
BMPER Q8N8U9 VAR_065823 p.Pro370Leu Disease - Diaphanospondylodysostosis (DSD) [MIM:608022]
BMPR1A P36894 VAR_015533 p.Cys124Arg Disease - Juvenile polyposis syndrome (JPS) [MIM:174900]
BMPR1A P36894 VAR_015534 p.Ala338Asp Disease - Cowden disease (CD) [MIM:158350]
BMPR1A P36894 VAR_015535 p.Cys376Tyr Disease - Juvenile polyposis syndrome (JPS) [MIM:174900]
BMPR1A P36894 VAR_022828 p.Tyr62Asp Disease - Juvenile polyposis syndrome (JPS) [MIM:174900]
BMPR1A P36894 VAR_022829 p.Cys82Tyr Disease - Juvenile polyposis syndrome (JPS) [MIM:174900]
BMPR1A P36894 VAR_022830 p.Cys130Arg Disease - Juvenile polyposis syndrome (JPS) [MIM:174900]
BMPR1A P36894 VAR_022831 p.Arg443Cys Disease rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900]
BMPR1A P36894 VAR_022832 p.Met470Thr Disease - Juvenile polyposis syndrome (JPS) [MIM:174900]
BMPR1A P36894 VAR_041397 p.Pro2Thr Polymorphism rs11528010 -
BMPR1A P36894 VAR_041398 p.Phe58Tyr Unclassified - A renal clear cell carcinoma sample
BMPR1A P36894 VAR_041399 p.Val450Met Polymorphism rs55932635 -
BMPR1A P36894 VAR_041400 p.Arg486Gln Unclassified - A gastric adenocarcinoma sample
BMPR1B O00238 VAR_023819 p.Ile200Lys Disease rs28939703 Brachydactyly type A2 (BDA2) [MIM:112600]
BMPR1B O00238 VAR_023820 p.Arg486Trp Disease rs28939704 Brachydactyly type A2 (BDA2) [MIM:112600]
BMPR1B O00238 VAR_037967 p.Arg486Gln Disease - Brachydactyly type A2 (BDA2) [MIM:112600]
BMPR1B O00238 VAR_041401 p.Arg31His Unclassified - A gastric adenocarcinoma sample
BMPR1B O00238 VAR_041402 p.Arg149Trp Polymorphism rs34231464 -
BMPR1B O00238 VAR_041403 p.Arg224His Polymorphism rs35973133 -
BMPR1B O00238 VAR_041404 p.Asp297Asn Unclassified - A metastatic melanoma sample
BMPR1B O00238 VAR_041405 p.Arg371Gln Polymorphism rs34970181 -
BMPR2 Q13873 VAR_013670 p.Cys60Tyr Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_013671 p.Cys117Tyr Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_013672 p.Cys118Trp Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_013673 p.Cys123Arg Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_013674 p.Cys123Ser Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_013675 p.Glu224Asp Polymorphism - -
BMPR2 Q13873 VAR_013676 p.Cys347Tyr Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_013677 p.Cys420Arg Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_013678 p.Cys483Arg Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_013679 p.Asp485Gly Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_013680 p.Arg491Gln Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_013681 p.Arg491Trp Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_013682 p.Lys512Thr Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_013683 p.Asn519Lys Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_019996 p.Ser775Asn Polymorphism rs2228545 -
BMPR2 Q13873 VAR_033109 p.Gln82His Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_033110 p.Gly182Asp Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMPR2 Q13873 VAR_033111 p.Arg899Pro Disease - Primary pulmonary hypertension (PPH1) [MIM:178600]
BMS1 Q14692 VAR_057503 p.Arg237His Polymorphism rs2272881 -
BMS1 Q14692 VAR_057504 p.Ser552Pro Polymorphism rs3814621 -
BMS1 Q14692 VAR_057505 p.Lys652Arg Polymorphism rs787795 -
BMS1 Q14692 VAR_057506 p.Met884Val Polymorphism rs2419109 -
BMS1 Q14692 VAR_057507 p.Val1141Ile Polymorphism rs12764004 -
BMX P51813 VAR_041674 p.Ser284Leu Polymorphism rs35353387 -
BMX P51813 VAR_041675 p.Arg670Trp Unclassified - A lung large cell carcinoma sample
BNC2 Q6ZN30 VAR_033543 p.Thr782Ala Polymorphism rs3739714 -
BNC2 Q6ZN30 VAR_052707 p.Leu550Val Polymorphism rs4961490 -
BNIP1 Q12981 VAR_019169 p.Gln14His Polymorphism rs5745100 -
BNIP2 Q12982 VAR_018837 p.Ser24Thr Polymorphism rs6151509 -
BNIPL Q7Z465 VAR_051917 p.Ser65Asn Polymorphism rs12068365 -
BNIPL Q7Z465 VAR_051918 p.Ser226Asn Polymorphism rs12068365 -
BOC Q9BWV1 VAR_033600 p.Lys883Asn Polymorphism rs35536878 -
BOC Q9BWV1 VAR_033601 p.Gln915His Polymorphism rs3814405 -
BOC Q9BWV1 VAR_035503 p.Val713Met Unclassified - A breast cancer sample
BOD1L Q8NFC6 VAR_035220 p.Thr429Met Polymorphism rs2035820 -
BOD1L Q8NFC6 VAR_035221 p.Leu650Ile Polymorphism rs1971278 -
BOD1L Q8NFC6 VAR_035222 p.Ala1369Gly Polymorphism rs17745712 -
BOD1L Q8NFC6 VAR_035223 p.Thr1448Ala Polymorphism rs17745676 -
BOD1L Q8NFC6 VAR_035224 p.Thr1515Ala Polymorphism rs16888885 -
BOD1L Q8NFC6 VAR_035225 p.Val1645Ile Polymorphism rs17807493 -
BOD1L Q8NFC6 VAR_035226 p.Gly2361Ser Polymorphism rs3822227 -
BOD1L Q8NFC6 VAR_035227 p.Pro2396Leu Polymorphism rs3733557 -
BOD1L Q8NFC6 VAR_036124 p.Ser246Ile Unclassified - A breast cancer sample
BOD1L Q8NFC6 VAR_061166 p.Val2944Met Polymorphism rs28538279 -
BOLA1 Q9Y3E2 VAR_033630 p.Gly98Ala Polymorphism rs1044808 -
BORA Q6PGQ7 VAR_030110 p.Ser210Leu Polymorphism rs9543107 -
BORA Q6PGQ7 VAR_030111 p.Ser308Phe Polymorphism rs1146858 -
BPGM P07738 VAR_065367 p.Arg62Gln Disease - Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
BPGM P07738 VAR_065368 p.Arg90Cys Disease - Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
BPI P17213 VAR_018401 p.Ala16Val Polymorphism rs1341023 -
BPI P17213 VAR_018402 p.Ala196Val Polymorphism rs5743509 -
BPI P17213 VAR_018403 p.Glu216Lys Polymorphism rs4358188 -
BPI P17213 VAR_049728 p.Ala12Thr Polymorphism rs5743497 -
BPI P17213 VAR_049729 p.Ala12Val Polymorphism rs5743498 -
BPI P17213 VAR_049730 p.Arg90Cys Polymorphism rs5743500 -
BPI P17213 VAR_049732 p.Glu140Gln Polymorphism rs5743506 -
BPI P17213 VAR_049733 p.Ala280Val Polymorphism rs5741804 -
BPI P17213 VAR_049734 p.Val377Ile Polymorphism rs5743524 -
BPI P17213 VAR_049735 p.Asn404Asp Polymorphism rs5741809 -
BPI P17213 VAR_049736 p.Lys451Glu Polymorphism rs5743542 -
BPIFA2 Q96DR5 VAR_049751 p.Gly43Arg Polymorphism rs6059139 -
BPIFA2 Q96DR5 VAR_049752 p.Lys113Glu Polymorphism rs17304572 -
BPIFA2 Q96DR5 VAR_049753 p.Arg221Cys Polymorphism rs6120140 -
BPIFA3 Q9BQP9 VAR_049754 p.Ala41Glu Polymorphism rs17124391 -
BPIFA3 Q9BQP9 VAR_049755 p.Val136Ile Polymorphism rs3818222 -
BPIFB1 Q8TDL5 VAR_016756 p.Ile84Val Polymorphism rs1078761 -
BPIFB1 Q8TDL5 VAR_016757 p.Ser479Thr Polymorphism rs1999663 -
BPIFB1 Q8TDL5 VAR_023361 p.Ser298Pro Polymorphism rs6120221 -
BPIFB1 Q8TDL5 VAR_023362 p.Ser313Ile Polymorphism rs6120222 -
BPIFB1 Q8TDL5 VAR_049747 p.Thr140Ala Polymorphism rs34578060 -
BPIFB1 Q8TDL5 VAR_049748 p.Val284Met Polymorphism rs6141383 -
BPIFB1 Q8TDL5 VAR_049749 p.Asp287His Polymorphism rs34548457 -
BPIFB1 Q8TDL5 VAR_049750 p.Thr464Ser Polymorphism rs17856249 -
BPIFB2 Q8N4F0 VAR_024515 p.Lys31Met Polymorphism rs6088066 -
BPIFB2 Q8N4F0 VAR_036550 p.Ala20Val Unclassified - A colorectal cancer sample
BPIFB2 Q8N4F0 VAR_049740 p.Ala63Val Polymorphism rs34128772 -
BPIFB3 P59826 VAR_049742 p.Val228Met Polymorphism rs4911290 -
BPIFB3 P59826 VAR_049743 p.Thr290Met Polymorphism rs2093066 -
BPIFB3 P59826 VAR_049744 p.His334Gln Polymorphism rs6057717 -
BPIFB3 P59826 VAR_049745 p.Tyr369Cys Polymorphism rs6059063 -
BPIFB3 P59826 VAR_049746 p.Pro449Ser Polymorphism rs378098 -
BPIFB4 P59827 VAR_055998 p.Asp199Gly Polymorphism rs4339026 -
BPIFB4 P59827 VAR_055999 p.Gly206Trp Polymorphism rs2424943 -
BPIFB4 P59827 VAR_056000 p.Ile268Val Polymorphism rs2070325 -
BPIFB4 P59827 VAR_056001 p.Asn320Thr Polymorphism rs2889732 -
BPIFB4 P59827 VAR_059372 p.Gly167Trp Polymorphism rs2424943 -
BPIFB4 P59827 VAR_059373 p.Ile229Val Polymorphism rs2070325 -
BPIFB6 Q8NFQ5 VAR_024518 p.Val97Ile Polymorphism rs2070317 -
BPIFB6 Q8NFQ5 VAR_033632 p.Thr16Met Polymorphism rs17301126 -
BPIFB6 Q8NFQ5 VAR_033633 p.Pro149Thr Polymorphism rs11907355 -
BPIFB6 Q8NFQ5 VAR_033634 p.Ser347Gly Polymorphism rs4911287 -
BPIFB6 Q8NFQ5 VAR_065088 p.Arg296His Unclassified - -
BPIFC Q8NFQ6 VAR_024516 p.Val269Ala Polymorphism rs2076051 -
BPIFC Q8NFQ6 VAR_024517 p.Ser451Pro Polymorphism rs5998478 -
BPIFC Q8NFQ6 VAR_033631 p.Val302Leu Polymorphism rs5994570 -
BPIFC Q8NFQ6 VAR_049741 p.Glu479Ala Polymorphism rs35856742 -
BRAF P15056 VAR_018512 p.Gly466Val Disease - Lung cancer (LNCR) [MIM:211980]
BRAF P15056 VAR_018513 p.Leu597Arg Disease - Lung cancer (LNCR) [MIM:211980]
BRAF P15056 VAR_018613 p.Arg462Ile Disease - Colorectal cancer (CRC) [MIM:114500]
BRAF P15056 VAR_018614 p.Ile463Ser Disease - Colorectal cancer (CRC) [MIM:114500]
BRAF P15056 VAR_018615 p.Gly464Glu Disease - Colorectal cancer (CRC) [MIM:114500]
BRAF P15056 VAR_018616 p.Gly464Val Unclassified - A colorectal cancer cell line
BRAF P15056 VAR_018617 p.Gly466Ala Unclassified - Melanoma
BRAF P15056 VAR_018618 p.Gly466Glu Unclassified - Melanoma
BRAF P15056 VAR_018620 p.Gly469Ala Disease - Non-Hodgkin lymphoma (NHL) [MIM:605027]
BRAF P15056 VAR_018621 p.Gly469Glu Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_018622 p.Gly469Arg Disease - Non-Hodgkin lymphoma (NHL) [MIM:605027]
BRAF P15056 VAR_018623 p.Glu586Lys Unclassified - Ovarian cancer
BRAF P15056 VAR_018624 p.Asp594Gly Disease - Non-Hodgkin lymphoma (NHL) [MIM:605027]
BRAF P15056 VAR_018625 p.Phe595Leu Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_018625 p.Phe595Leu Unclassified - Colon cancer
BRAF P15056 VAR_018626 p.Gly596Arg Unclassified - A colorectal adenocarcinoma sample
BRAF P15056 VAR_018627 p.Leu597Val Disease - Noonan syndrome type 7 (NS7) [MIM:613706]
BRAF P15056 VAR_018628 p.Val600Asp Unclassified - A melanoma cell line
BRAF P15056 VAR_018629 p.Val600Glu Unclassified - Sarcoma
BRAF P15056 VAR_018630 p.Lys601Glu Disease - Colorectal cancer (CRC) [MIM:114500]
BRAF P15056 VAR_026113 p.Ala246Pro Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_026114 p.Gln257Arg Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_026115 p.Leu485Phe Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_026116 p.Lys499Glu Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_026117 p.Glu501Gly Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_026118 p.Glu501Lys Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_026119 p.Asn581Asp Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_035096 p.Ser467Ala Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_035097 p.Phe468Ser Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_035098 p.Gly596Val Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_040391 p.Pro301Ser Polymorphism rs34776339 -
BRAF P15056 VAR_040392 p.Gly469Val Unclassified - A colorectal adenocarcinoma sample
BRAF P15056 VAR_040393 p.Asn581Ser Unclassified - A colorectal adenocarcinoma sample
BRAF P15056 VAR_058620 p.Thr241Met Unclassified - -
BRAF P15056 VAR_058621 p.Thr241Pro Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_058621 p.Thr241Pro Disease - LEOPARD syndrome type 3 (LEOPARD3) [MIM:613707]
BRAF P15056 VAR_058622 p.Thr241Arg Unclassified - -
BRAF P15056 VAR_058623 p.Leu245Phe Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_058624 p.Glu275Lys Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_058625 p.Lys499Asn Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_058626 p.Leu525Pro Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_058627 p.Trp531Cys Disease - Noonan syndrome type 7 (NS7) [MIM:613706]
BRAF P15056 VAR_058628 p.Thr599Arg Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_058629 p.Lys601Gln Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_058630 p.Asp638Glu Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_058631 p.Gln709Arg Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_065171 p.Thr244Pro Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_065172 p.Gln262Lys Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAF P15056 VAR_065173 p.Asn580Asp Disease - Cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]
BRAT1 Q6PJG6 VAR_031202 p.Arg20Gly Polymorphism rs17856488 -
BRAT1 Q6PJG6 VAR_061594 p.Arg737Trp Polymorphism rs60152725 -
BRCA1 P38398 VAR_007754 p.Val11Ala Unclassified - -
BRCA1 P38398 VAR_007755 p.Ile21Val Unclassified - -
BRCA1 P38398 VAR_007756 p.Leu22Ser Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007757 p.Cys61Gly Disease rs28897672 Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007757 p.Cys61Gly Disease rs28897672 Ovarian cancer (OC) [MIM:167000]
BRCA1 P38398 VAR_007758 p.Cys64Gly Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007759 p.Cys64Tyr Polymorphism rs55851803 -
BRCA1 P38398 VAR_007760 p.His239Arg Polymorphism - -
BRCA1 P38398 VAR_007761 p.Val271Met Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007762 p.Gln356Arg Polymorphism rs1799950 -
BRCA1 P38398 VAR_007764 p.Ile379Met Polymorphism rs56128296 -
BRCA1 P38398 VAR_007765 p.Phe461Leu Disease rs56046357 Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007766 p.Tyr465Asp Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007767 p.Arg507Ile Unclassified - -
BRCA1 P38398 VAR_007768 p.Gly552Val Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007769 p.Asp693Asn Polymorphism rs4986850 -
BRCA1 P38398 VAR_007770 p.Val772Ala Polymorphism - -
BRCA1 P38398 VAR_007771 p.Lys820Glu Polymorphism - -
BRCA1 P38398 VAR_007772 p.Thr826Lys Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007773 p.Arg841Trp Disease rs1800709 Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
BRCA1 P38398 VAR_007774 p.Pro871Leu Polymorphism rs799917 -
BRCA1 P38398 VAR_007775 p.Leu892Ser Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007776 p.Gly960Asp Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007777 p.Met1008Ile Polymorphism rs1800704 -
BRCA1 P38398 VAR_007778 p.Thr1025Ile Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007779 p.Glu1038Gly Polymorphism rs16941 -
BRCA1 P38398 VAR_007780 p.Ser1040Asn Polymorphism rs4986852 -
BRCA1 P38398 VAR_007781 p.Val1047Ala Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007782 p.Pro1150Ser Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007783 p.Lys1183Arg Polymorphism rs16942 -
BRCA1 P38398 VAR_007784 p.Glu1219Asp Unclassified - -
BRCA1 P38398 VAR_007785 p.Arg1347Gly Polymorphism - -
BRCA1 P38398 VAR_007786 p.Ser1431Pro Polymorphism - -
BRCA1 P38398 VAR_007787 p.Arg1443Gly Polymorphism - -
BRCA1 P38398 VAR_007788 p.Ser1512Ile Polymorphism rs1800744 -
BRCA1 P38398 VAR_007789 p.Thr1561Ile Unclassified - -
BRCA1 P38398 VAR_007790 p.Lys1606Glu Unclassified - -
BRCA1 P38398 VAR_007791 p.Ser1613Gly Polymorphism rs1799966 -
BRCA1 P38398 VAR_007792 p.Met1628Val Unclassified - -
BRCA1 P38398 VAR_007793 p.Met1628Thr Unclassified rs4986854 Some patients with sporadic breast cancer
BRCA1 P38398 VAR_007794 p.Pro1637Leu Polymorphism - -
BRCA1 P38398 VAR_007795 p.Met1652Ile Polymorphism rs1799967 -
BRCA1 P38398 VAR_007796 p.Ala1708Glu Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_007797 p.Val1713Gly Polymorphism - -
BRCA1 P38398 VAR_007798 p.Pro1749Arg Disease - Ovarian cancer (OC) [MIM:167000]
BRCA1 P38398 VAR_007799 p.Met1775Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_008759 p.Glu227Lys Disease - Ovarian cancer (OC) [MIM:167000]
BRCA1 P38398 VAR_008760 p.Pro346Ser Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_008761 p.Lys1406Asn Polymorphism rs1800707 -
BRCA1 P38398 VAR_008762 p.Ala1641Pro Disease rs1800726 Ovarian cancer (OC) [MIM:167000]
BRCA1 P38398 VAR_008763 p.Asp1692Asn Disease - Ovarian cancer (OC) [MIM:167000]
BRCA1 P38398 VAR_008764 p.Pro1776Ser Disease rs1800757 Ovarian cancer (OC) [MIM:167000]
BRCA1 P38398 VAR_008765 p.Pro1812Ser Disease rs1800751 Ovarian cancer (OC) [MIM:167000]
BRCA1 P38398 VAR_019944 p.Gly275Ser Polymorphism rs8176153 -
BRCA1 P38398 VAR_019945 p.Ser1140Gly Polymorphism rs2227945 -
BRCA1 P38398 VAR_019946 p.Thr1620Ala Polymorphism rs8176219 -
BRCA1 P38398 VAR_020110 p.Asn723Asp Polymorphism rs4986845 -
BRCA1 P38398 VAR_020111 p.Phe989Ser Polymorphism rs4986848 -
BRCA1 P38398 VAR_020112 p.Arg1443Gln Polymorphism rs4986849 -
BRCA1 P38398 VAR_020679 p.Glu10Lys Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020679 p.Glu10Lys Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
BRCA1 P38398 VAR_020680 p.Glu23Lys Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020680 p.Glu23Lys Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
BRCA1 P38398 VAR_020681 p.Arg71Lys Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020682 p.Asn656Ile Polymorphism - -
BRCA1 P38398 VAR_020683 p.Asp749Tyr Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020684 p.His835Tyr Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
BRCA1 P38398 VAR_020685 p.Tyr856His Unclassified - A patient with sporadic breast cancer
BRCA1 P38398 VAR_020686 p.Arg866Gln Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020687 p.His888Tyr Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020688 p.Glu1060Ala Polymorphism - -
BRCA1 P38398 VAR_020689 p.Ser1139Ile Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020690 p.Ser1187Ile Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020690 p.Ser1187Ile Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
BRCA1 P38398 VAR_020691 p.Gln1200His Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020691 p.Gln1200His Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
BRCA1 P38398 VAR_020692 p.Arg1204Ile Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020693 p.Lys1207Asn Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020694 p.Glu1210Gly Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020695 p.Ser1217Tyr Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020695 p.Ser1217Tyr Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
BRCA1 P38398 VAR_020696 p.Phe1226Leu Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
BRCA1 P38398 VAR_020697 p.Arg1243Gly Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
BRCA1 P38398 VAR_020698 p.Ser1297Pro Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_020699 p.Met1411Thr Disease - Ovarian cancer (OC) [MIM:167000]
BRCA1 P38398 VAR_020700 p.Val1665Met Polymorphism - -
BRCA1 P38398 VAR_020701 p.Lys1690Gln Unclassified - Some patients with sporadic breast cancer
BRCA1 P38398 VAR_020702 p.Cys1697Arg Disease - Ovarian cancer (OC) [MIM:167000]
BRCA1 P38398 VAR_020703 p.Arg1699Trp Disease - Ovarian cancer (OC) [MIM:167000]
BRCA1 P38398 VAR_020704 p.Leu1786Pro Disease - Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
BRCA1 P38398 VAR_021913 p.Ile925Leu Polymorphism rs4986847 -
BRCA1 P38398 VAR_035947 p.Leu30Phe Unclassified - A breast cancer sample
BRCA1 P38398 VAR_035948 p.Leu758Phe Unclassified - A breast cancer sample
BRCA1 P38398 VAR_035949 p.Gly778Cys Unclassified - A breast cancer sample
BRCA1 P38398 VAR_052077 p.Ser153Arg Polymorphism rs28897674 -
BRCA1 P38398 VAR_052078 p.Asn1236Lys Polymorphism rs28897687 -
BRCA1 P38398 VAR_052079 p.Glu1250Lys Polymorphism rs28897686 -
BRCA1 P38398 VAR_052080 p.Phe1662Cys Polymorphism rs28897695 -
BRCA1 P38398 VAR_063212 p.Met1775Lys Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_063899 p.Met18Thr Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_063900 p.Arg1495Met Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_063901 p.Ala1623Gly Unclassified - -
BRCA1 P38398 VAR_063902 p.Thr1685Ala Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_063903 p.Thr1685Ile Unclassified - -
BRCA1 P38398 VAR_063904 p.Met1689Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_063905 p.Gly1706Glu Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_063906 p.Ser1715Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_063907 p.Gly1738Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_063908 p.Leu1764Pro Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_063909 p.Ile1766Ser Disease - Breast cancer (BC) [MIM:114480]
BRCA1 P38398 VAR_063910 p.Gly1788Val Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005085 p.Phe32Leu Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005086 p.Lys53Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005087 p.Ala75Pro Unclassified rs28897701 Ovarian cancer
BRCA2 P51587 VAR_005088 p.Phe81Leu Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005089 p.Pro201Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005090 p.Val211Ala Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005091 p.Pro222Ser Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005092 p.Asn289His Polymorphism rs766173 -
BRCA2 P51587 VAR_005093 p.Val355Leu Unclassified - Lung cancer
BRCA2 P51587 VAR_005094 p.His372Asn Polymorphism rs144848 -
BRCA2 P51587 VAR_005095 p.Cys554Trp Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005096 p.Thr630Ile Unclassified - Ovarian cancer
BRCA2 P51587 VAR_005097 p.Asp728Ala Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005098 p.Asn991Asp Polymorphism rs1799944 -
BRCA2 P51587 VAR_005099 p.Asn1147Ser Polymorphism rs1799951 -
BRCA2 P51587 VAR_005101 p.Gly1529Arg Unclassified - Bladder cancer
BRCA2 P51587 VAR_005102 p.Asn1880Lys Polymorphism rs11571657 -
BRCA2 P51587 VAR_005103 p.Thr1915Met Polymorphism rs4987117 -
BRCA2 P51587 VAR_005104 p.Arg2034Cys Polymorphism rs1799954 -
BRCA2 P51587 VAR_005105 p.Gly2274Val Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005106 p.His2415Asn Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005107 p.Gln2421His Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005108 p.Asp3095Glu Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005109 p.Ile3103Met Unclassified - Melanoma
BRCA2 P51587 VAR_005110 p.Met3118Thr Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005111 p.Thr3357Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_005112 p.Ile3412Val Polymorphism rs1801426 -
BRCA2 P51587 VAR_008766 p.Asn108His Polymorphism - -
BRCA2 P51587 VAR_008767 p.Lys327Glu Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_008768 p.Thr582Pro Polymorphism - -
BRCA2 P51587 VAR_008769 p.Asp707Tyr Polymorphism - -
BRCA2 P51587 VAR_008770 p.Met784Val Polymorphism rs11571653 -
BRCA2 P51587 VAR_008771 p.Asn886Ile Polymorphism - -
BRCA2 P51587 VAR_008772 p.Asp935Asn Disease rs28897716 Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_008774 p.Cys1290Tyr Polymorphism - -
BRCA2 P51587 VAR_008775 p.Thr1414Met Polymorphism - -
BRCA2 P51587 VAR_008776 p.Asp1420Tyr Polymorphism - -
BRCA2 P51587 VAR_008777 p.Asp1513Asn Polymorphism - -
BRCA2 P51587 VAR_008778 p.Glu1593Asp Polymorphism - -
BRCA2 P51587 VAR_008779 p.Gly1771Asp Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_008780 p.Asn1805Ser Polymorphism - -
BRCA2 P51587 VAR_008781 p.Asp1902Asn Polymorphism - -
BRCA2 P51587 VAR_008782 p.His2074Asn Polymorphism - -
BRCA2 P51587 VAR_008783 p.Glu2089Asp Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_008784 p.Val2138Phe Polymorphism - -
BRCA2 P51587 VAR_008785 p.Ala2466Val Polymorphism - -
BRCA2 P51587 VAR_008786 p.Leu2480Val Polymorphism - -
BRCA2 P51587 VAR_008787 p.Ile2490Thr Polymorphism - -
BRCA2 P51587 VAR_008788 p.Arg2502His Unclassified - Ovarian cancer
BRCA2 P51587 VAR_008789 p.Thr2515Ile Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_008790 p.Arg2787His Unclassified - Ovarian cancer
BRCA2 P51587 VAR_008791 p.Ile2944Phe Polymorphism - -
BRCA2 P51587 VAR_008792 p.Ala2951Thr Polymorphism - -
BRCA2 P51587 VAR_008793 p.Val2969Met Polymorphism - -
BRCA2 P51587 VAR_008794 p.Tyr3098His Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_008795 p.Lys3257Arg Polymorphism - -
BRCA2 P51587 VAR_008796 p.Arg3276Ser Polymorphism - -
BRCA2 P51587 VAR_018661 p.Thr2722Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_018908 p.Lys322Gln Polymorphism rs11571640 -
BRCA2 P51587 VAR_018909 p.Leu929Ser Polymorphism rs2227943 -
BRCA2 P51587 VAR_018910 p.Ser976Phe Polymorphism rs11571656 -
BRCA2 P51587 VAR_018911 p.Asn987Ile Polymorphism rs2227944 -
BRCA2 P51587 VAR_018912 p.His1561Asn Polymorphism - -
BRCA2 P51587 VAR_018913 p.Lys2162Arg Polymorphism - -
BRCA2 P51587 VAR_018914 p.His2440Arg Polymorphism - -
BRCA2 P51587 VAR_018915 p.Ser2835Pro Polymorphism - -
BRCA2 P51587 VAR_018916 p.Glu2856Ala Polymorphism - -
BRCA2 P51587 VAR_018917 p.Val3244Ile Polymorphism - -
BRCA2 P51587 VAR_020705 p.Tyr42Cys Disease rs4987046 Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020706 p.Asn60Ser Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020707 p.Gly405Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020708 p.Thr431Ile Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020709 p.Arg448His Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020710 p.Glu462Gly Disease rs56403624 Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020711 p.Thr598Ala Polymorphism rs28897710 -
BRCA2 P51587 VAR_020712 p.Leu613Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020713 p.Glu1036Lys Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020714 p.Ser1106Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020715 p.Ser1179Asn Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020716 p.Asn1279Ser Polymorphism - -
BRCA2 P51587 VAR_020717 p.Lys1445Thr Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020718 p.Phe1524Val Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020719 p.Cys1580Tyr Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020720 p.Thr1679Ile Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020721 p.Val1804Ala Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020722 p.Glu1901Lys Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020723 p.Ile1929Val Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020724 p.Thr2031Ala Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020725 p.Ser2072Cys Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020726 p.Tyr2094Cys Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020727 p.Pro2096Leu Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020728 p.Val2118Leu Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020729 p.Lys2128Asn Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020730 p.Glu2275Gly Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020731 p.Phe2293Leu Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020732 p.Gly2353Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020733 p.Arg2488Lys Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020734 p.Asn2706Ser Polymorphism - -
BRCA2 P51587 VAR_020735 p.Asp2723His Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020736 p.Val2728Ile Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020737 p.Lys2729Asn Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020738 p.Gly2793Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020739 p.Lys2950Asn Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020740 p.Thr3013Ile Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020741 p.Pro3063Ser Unclassified - A patient with ovarian cancer
BRCA2 P51587 VAR_020742 p.Gly3076Glu Polymorphism - -
BRCA2 P51587 VAR_020743 p.Asn3124Ile Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020744 p.Lys3196Glu Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_020745 p.Thr3374Ile Polymorphism - -
BRCA2 P51587 VAR_028167 p.Gly25Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_028168 p.Trp31Cys Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_028169 p.Trp31Arg Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_032712 p.Thr64Ile Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_032713 p.Arg118His Unclassified - One patient with esophageal carcinoma
BRCA2 P51587 VAR_032714 p.Met192Thr Unclassified - One patient with pancreatic cancer
BRCA2 P51587 VAR_032715 p.Thr225Ala Unclassified - -
BRCA2 P51587 VAR_032716 p.Cys315Ser Unclassified - One patient with esophageal carcinoma
BRCA2 P51587 VAR_032717 p.Ser326Arg Disease rs28897706 Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_032718 p.Ile505Thr Disease rs28897708 Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_032719 p.Ile729Met Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_032720 p.Ser1172Leu Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_032721 p.Leu1522Phe Unclassified - -
BRCA2 P51587 VAR_032722 p.Lys1690Asn Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_032723 p.Asn1730Tyr Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_032724 p.Thr1887Met Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_032725 p.Val1988Ile Unclassified - One patient with esophageal carcinoma
BRCA2 P51587 VAR_032726 p.Gly2044Val Unclassified - -
BRCA2 P51587 VAR_032727 p.Arg2108Cys Polymorphism - -
BRCA2 P51587 VAR_032728 p.Asn2135His Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_032729 p.Tyr2222Cys Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_032730 p.Arg2336His Disease - Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]
BRCA2 P51587 VAR_032731 p.Gln2456Glu Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_032732 p.Leu2510Pro Disease - Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]
BRCA2 P51587 VAR_032733 p.Trp2626Cys Disease - Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]
BRCA2 P51587 VAR_032734 p.Arg2842Cys Unclassified - One patient with esophageal carcinoma
BRCA2 P51587 VAR_032735 p.Pro3300Ser Unclassified - One patient with esophageal carcinoma
BRCA2 P51587 VAR_035436 p.Ser599Phe Polymorphism rs1046984 -
BRCA2 P51587 VAR_056751 p.Lys513Arg Polymorphism rs28897709 -
BRCA2 P51587 VAR_056752 p.Ile982Leu Polymorphism rs28897717 -
BRCA2 P51587 VAR_056753 p.Val1542Met Polymorphism rs28897729 -
BRCA2 P51587 VAR_056754 p.Val1643Ala Polymorphism rs28897731 -
BRCA2 P51587 VAR_056755 p.Ser1979Arg Polymorphism rs28897737 -
BRCA2 P51587 VAR_056756 p.Asp2238Glu Polymorphism rs28897742 -
BRCA2 P51587 VAR_056757 p.Arg2336Gln Polymorphism rs28897743 -
BRCA2 P51587 VAR_056758 p.Asn2447Asp Polymorphism rs4986859 -
BRCA2 P51587 VAR_056759 p.Leu2686Pro Polymorphism rs28897746 -
BRCA2 P51587 VAR_056760 p.Leu2792Pro Polymorphism rs28897751 -
BRCA2 P51587 VAR_056761 p.Leu3101Arg Polymorphism rs28897758 -
BRCA2 P51587 VAR_061563 p.His2116Arg Polymorphism rs55953736 -
BRCA2 P51587 VAR_063911 p.Arg2502Cys Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_063912 p.Ile2627Phe Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_063913 p.Leu2653Pro Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_063914 p.Arg2659Lys Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_063915 p.Glu2663Val Unclassified - -
BRCA2 P51587 VAR_063916 p.Asp2723Gly Unclassified - -
BRCA2 P51587 VAR_063917 p.Gly2748Asp Disease - Breast cancer (BC) [MIM:114480]
BRCA2 P51587 VAR_063918 p.Arg3052Trp Unclassified - -
BRCC3 P46736 VAR_050097 p.Ile74Val Polymorphism rs28997578 -
BRD1 O95696 VAR_048424 p.Arg38Gly Polymorphism rs11549978 -
BRD1 O95696 VAR_048425 p.Ala321Ser Polymorphism rs12157714 -
BRD1 O95696 VAR_048426 p.Ala730Thr Polymorphism rs35331092 -
BRD2 P25440 VAR_022132 p.Leu238Phe Polymorphism rs176250 -
BRD2 P25440 VAR_029300 p.Ala474Val Polymorphism rs3918143 -
BRD2 P25440 VAR_029301 p.Arg547Lys Polymorphism rs1049369 -
BRD2 P25440 VAR_041904 p.Gly30Glu Unclassified - A glioblastoma multiforme sample
BRD2 P25440 VAR_041905 p.Ala49Gly Polymorphism - -
BRD2 P25440 VAR_041906 p.Ala49Ser Polymorphism rs55669504 -
BRD2 P25440 VAR_041907 p.Ala212Pro Polymorphism rs35952031 -
BRD2 P25440 VAR_041908 p.Pro260Gln Polymorphism rs35294809 -
BRD2 P25440 VAR_041909 p.Arg558Gly Unclassified - A gastric adenocarcinoma sample
BRD2 P25440 VAR_041910 p.Ala569Thr Polymorphism rs34530779 -
BRD2 P25440 VAR_041911 p.Ala599Pro Polymorphism rs55952113 -
BRD2 P25440 VAR_041912 p.Pro714Leu Unclassified - A glioblastoma multiforme sample
BRD3 Q15059 VAR_041913 p.Thr36Asn Unclassified - A renal clear cell carcinoma sample
BRD3 Q15059 VAR_041914 p.Ala161Thr Unclassified - A gastric adenocarcinoma sample
BRD3 Q15059 VAR_041915 p.Ala172Val Polymorphism rs34609592 -
BRD3 Q15059 VAR_041916 p.Lys435Gln Polymorphism rs36093130 -
BRD3 Q15059 VAR_041917 p.Arg441His Polymorphism rs56017928 -
BRD3 Q15059 VAR_041918 p.Ser447Pro Polymorphism rs55754444 -
BRD4 O60885 VAR_041919 p.Pro37Ser Polymorphism rs35177876 -
BRD4 O60885 VAR_041920 p.Ala371Gly Polymorphism rs55805532 -
BRD4 O60885 VAR_041921 p.Ser563Asn Polymorphism rs55970906 -
BRD4 O60885 VAR_041922 p.Thr598Ser Polymorphism rs34362023 -
BRD4 O60885 VAR_041923 p.Arg669His Polymorphism rs35824241 -
BRD4 O60885 VAR_048427 p.Arg1097His Polymorphism rs35676845 -
BRD8 Q9H0E9 VAR_030695 p.Thr490Met Polymorphism rs11750814 -
BRD8 Q9H0E9 VAR_048428 p.Leu896Pro Polymorphism rs6883021 -
BRD8 Q9H0E9 VAR_048429 p.Gln1198Arg Polymorphism rs412051 -
BRD9 Q9H8M2 VAR_033635 p.Ala266Thr Polymorphism rs34292369 -
BRD9 Q9H8M2 VAR_033636 p.Ala389Thr Polymorphism rs414349 -
BRD9 Q9H8M2 VAR_059143 p.Ala170Thr Polymorphism rs34292369 -
BRDT Q58F21 VAR_026584 p.Gln62Lys Polymorphism rs10783071 -
BRDT Q58F21 VAR_026585 p.Lys238Asn Polymorphism rs1156281 -
BRDT Q58F21 VAR_026586 p.Asn410Lys Polymorphism rs3088232 -
BRDT Q58F21 VAR_041924 p.Ser2Phe Polymorphism rs55806733 -
BRDT Q58F21 VAR_041925 p.Arg6Gln Polymorphism rs56273490 -
BRDT Q58F21 VAR_041926 p.Ala89Val Unclassified - A gastric adenocarcinoma sample
BRDT Q58F21 VAR_041927 p.His288Tyr Unclassified - A lung neuroendocrine carcinoma sample
BRDT Q58F21 VAR_041928 p.Glu357Lys Polymorphism rs34674879 -
BRDT Q58F21 VAR_041929 p.Pro542Ala Polymorphism rs55912588 -
BRDT Q58F21 VAR_047327 p.Lys336Thr Polymorphism rs1064567 -
BRDT Q58F21 VAR_047328 p.Arg605Gln Polymorphism rs35327986 -
BRDT Q58F21 VAR_047329 p.Pro696Leu Polymorphism rs10747493 -
BRF1 Q92994 VAR_035723 p.Val542Met Unclassified - A colorectal cancer sample
BRI3 O95415 VAR_033516 p.Thr123Ala Polymorphism rs12865 -
BRIP1 Q9BX63 VAR_020896 p.Pro47Ala Disease rs28903098 Breast cancer (BC) [MIM:114480]
BRIP1 Q9BX63 VAR_020897 p.Arg173Cys Polymorphism rs4988345 -
BRIP1 Q9BX63 VAR_020898 p.Val193Ile Polymorphism rs4988346 -
BRIP1 Q9BX63 VAR_020899 p.Leu195Pro Polymorphism rs4988347 -
BRIP1 Q9BX63 VAR_020900 p.Met299Ile Disease - Breast cancer (BC) [MIM:114480]
BRIP1 Q9BX63 VAR_020901 p.Arg419Trp Polymorphism - -
BRIP1 Q9BX63 VAR_020902 p.Phe531Val Polymorphism rs4988350 -
BRIP1 Q9BX63 VAR_020903 p.Gln540Leu Polymorphism rs4988349 -
BRIP1 Q9BX63 VAR_020904 p.Cys832Tyr Polymorphism rs4988355 -
BRIP1 Q9BX63 VAR_020905 p.Pro919Ser Polymorphism rs4986764 -
BRIP1 Q9BX63 VAR_020906 p.Val935Gly Polymorphism rs4988356 -
BRIP1 Q9BX63 VAR_020907 p.Pro1034Leu Unclassified - A patient with ovarian cancer
BRIP1 Q9BX63 VAR_023700 p.Gln255His Disease - Fanconi anemia complementation group J (FANCJ) [MIM:609054]
BRIP1 Q9BX63 VAR_023701 p.Arg264Trp Polymorphism rs28997569 -
BRIP1 Q9BX63 VAR_023702 p.Ala349Pro Disease - Fanconi anemia complementation group J (FANCJ) [MIM:609054]
BRIP1 Q9BX63 VAR_023703 p.Trp647Cys Disease - Fanconi anemia complementation group J (FANCJ) [MIM:609054]
BRIP1 Q9BX63 VAR_023704 p.Arg707Cys Disease - Fanconi anemia complementation group J (FANCJ) [MIM:609054]
BRIP1 Q9BX63 VAR_052192 p.Ile633Met Polymorphism rs28997572 -
BRIP1 Q9BX63 VAR_052193 p.Asp1148Glu Polymorphism rs28997573 -
BROMI Q96NH3 VAR_046958 p.Arg82Gln Polymorphism rs7767455 -
BROMI Q96NH3 VAR_046959 p.Ile280Val Polymorphism rs9490157 -
BROMI Q96NH3 VAR_046960 p.Thr375Lys Polymorphism rs9387944 -
BROMI Q96NH3 VAR_046961 p.Ile599Val Polymorphism rs7745023 -
BRP44L Q9Y5U8 VAR_052486 p.Leu36Ile Polymorphism rs11557064 -
BRPF1 P55201 VAR_028232 p.Gly1117Glu Polymorphism rs1042294 -
BRPF1 P55201 VAR_048430 p.His1193Gln Polymorphism rs36081837 -
BRPF3 Q9ULD4 VAR_048431 p.Ala278Gly Polymorphism rs17658935 -
BRPF3 Q9ULD4 VAR_061042 p.Ser177Gly Polymorphism rs45504893 -
BRS3 P32247 VAR_011844 p.Thr53Pro Polymorphism rs5232 -
BRS3 P32247 VAR_011845 p.Leu162Gln Polymorphism rs5234 -
BRSK1 Q8TDC3 VAR_040394 p.Arg303Trp Unclassified - A gastric adenocarcinoma sample
BRSK1 Q8TDC3 VAR_040395 p.Val319Ile Unclassified - A lung large cell carcinoma sample
BRSK1 Q8TDC3 VAR_040396 p.Gly391Glu Unclassified - A metastatic melanoma sample
BRSK1 Q8TDC3 VAR_040397 p.Thr531Asn Polymorphism rs55892637 -
BRSK1 Q8TDC3 VAR_040398 p.Gly749Ser Polymorphism - -
BRSK1 Q8TDC3 VAR_040399 p.Pro764Ala Polymorphism rs55796422 -
BRWD1 Q9NSI6 VAR_026435 p.Gln83Glu Polymorphism rs2056844 -
BRWD1 Q9NSI6 VAR_026436 p.Ser1511Pro Polymorphism rs2183573 -
BRWD1 Q9NSI6 VAR_026437 p.Leu1699Pro Polymorphism rs1041439 -
BRWD1 Q9NSI6 VAR_057584 p.Lys2156Arg Polymorphism rs2234548 -
BRWD3 Q6RI45 VAR_031491 p.Lys1288Arg Polymorphism rs3122407 -
BRWD3 Q6RI45 VAR_036940 p.Lys1596Glu Disease - Mental retardation X-linked type 93 (MRX93) [MIM:300659]
BSCL2 Q96G97 VAR_022375 p.Asn88Ser Disease - Spastic paraplegia type 17 (SPG17) [MIM:270685]
BSCL2 Q96G97 VAR_022376 p.Ser90Leu Disease - Spastic paraplegia type 17 (SPG17) [MIM:270685]
BSCL2 Q96G97 VAR_022377 p.Ala212Pro Disease - Congenital generalized lipodystrophy type 2 (CGL2) [MIM:269700]
BSG P35613 VAR_011720 p.Gly269Val Polymorphism rs1803203 -
BSG P35613 VAR_013574 p.Glu208Lys Unclassified - -
BSN Q9UPA5 VAR_055105 p.Ala741Thr Polymorphism rs34762726 -
BSN Q9UPA5 VAR_055106 p.Gly1213Asp Polymorphism rs35762866 -
BSN Q9UPA5 VAR_055107 p.Ala3863Thr Polymorphism rs2005557 -
BSND Q8WZ55 VAR_019783 p.Arg8Leu Disease - Bartter syndrome type 4A (BS4A) [MIM:602522]
BSND Q8WZ55 VAR_019784 p.Arg8Trp Disease - Bartter syndrome type 4A (BS4A) [MIM:602522]
BSND Q8WZ55 VAR_019785 p.Gly10Ser Disease - Bartter syndrome type 4A (BS4A) [MIM:602522]
BSND Q8WZ55 VAR_019786 p.Gly47Arg Disease - Bartter syndrome type 4A (BS4A) [MIM:602522]
BSND Q8WZ55 VAR_061564 p.Val43Ile Polymorphism rs34561376 -
BSPRY Q5W0U4 VAR_026882 p.Gln293His Polymorphism rs818711 -
BSPRY Q5W0U4 VAR_026883 p.Thr374Ile Polymorphism rs3088235 -
BSPRY Q5W0U4 VAR_048397 p.Ala261Pro Polymorphism rs34089316 -
BST1 Q10588 VAR_021964 p.Arg125His Polymorphism rs2302465 -
BST1 Q10588 VAR_021965 p.Arg145Gln Polymorphism rs2302464 -
BST1 Q10588 VAR_028438 p.Ala77Val Polymorphism rs2302466 -
BST1 Q10588 VAR_028439 p.Ile101Val Polymorphism rs6840615 -
BST2 Q10589 VAR_012067 p.Val143Phe Polymorphism rs1804402 -
BTBD10 Q9BSF8 VAR_033638 p.Thr145Ala Polymorphism rs34185489 -
BTBD11 A6QL63 VAR_042534 p.Ala1002Asp Polymorphism rs11610050 -
BTBD11 A6QL63 VAR_042535 p.Gly1076Ser Polymorphism rs12303478 -
BTBD11 A6QL63 VAR_055560 p.Gly448Ser Polymorphism rs1558781 -
BTBD16 Q32M84 VAR_027070 p.Arg318Gln Polymorphism rs2421013 -
BTBD16 Q32M84 VAR_027071 p.Gly331Asp Polymorphism rs986178 -
BTBD16 Q32M84 VAR_027072 p.His439Pro Polymorphism rs1048347 -
BTBD16 Q32M84 VAR_027073 p.Gln472Arg Polymorphism rs10510108 -
BTBD18 B2RXH4 VAR_063155 p.Ser302Thr Polymorphism rs78162678 -
BTBD18 B2RXH4 VAR_063156 p.Glu352Gly Polymorphism rs77600568 -
BTBD19 C9JJ37 VAR_063157 p.Glu110Gly Polymorphism rs78531751 -
BTBD8 Q5XKL5 VAR_033637 p.Lys136Arg Polymorphism rs17131602 -
BTBD8 Q5XKL5 VAR_048436 p.Val60Ile Polymorphism rs34856868 -
BTC P35070 VAR_029307 p.Cys7Gly Polymorphism rs28549760 -
BTC P35070 VAR_029308 p.Leu124Met Polymorphism rs11938093 -
BTC P35070 VAR_061151 p.Leu44Phe Polymorphism rs56320257 -
BTD P43251 VAR_005113 p.Phe128Val Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260]
BTD P43251 VAR_005114 p.Ala171Thr Disease rs13073139 Biotinidase deficiency (BTD deficiency) [MIM:253260]
BTD P43251 VAR_005115 p.Asp228Tyr Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260]
BTD P43251 VAR_005116 p.His323Arg Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260]
BTD P43251 VAR_005117 p.Asp444His Disease rs13078881 Biotinidase deficiency (BTD deficiency) [MIM:253260]
BTD P43251 VAR_005118 p.Gly451Asp Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260]
BTD P43251 VAR_005119 p.Gln456His Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260]
BTD P43251 VAR_005120 p.Thr532Met Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260]
BTD P43251 VAR_005121 p.Arg538Cys Disease - Biotinidase deficiency (BTD deficiency) [MIM:253260]
BTD P43251 VAR_056238 p.Pro391Ser Polymorphism rs35034250 -
BTG1 P62324 VAR_021345 p.Asn139Ser Polymorphism rs28399541 -
BTG1 P62324 VAR_021346 p.Gln141Glu Polymorphism rs28399542 -
BTG2 P78543 VAR_048437 p.Val153Met Polymorphism rs12039961 -
BTK Q06187 VAR_006216 p.Leu11Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006217 p.Lys12Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006218 p.Ser14Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006219 p.Phe25Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006220 p.Arg28His Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006221 p.Arg28Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006222 p.Thr33Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006223 p.Val64Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006225 p.Val113Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006227 p.Arg288Trp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006228 p.Leu295Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006230 p.Gly302Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006231 p.Arg307Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006232 p.Tyr334Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006233 p.Leu358Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006234 p.Tyr361Cys Disease rs28935478 X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006235 p.His362Gln Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006236 p.His364Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006237 p.Asn365Tyr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006238 p.Ile370Met Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006239 p.Leu408Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006240 p.Tyr418His Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006241 p.Ile429Asn Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006242 p.Lys430Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006243 p.Tyr476Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006244 p.Met477Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006245 p.Cys502Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006246 p.Cys502Trp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006247 p.Cys506Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006248 p.Cys506Tyr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006249 p.Met509Val Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006251 p.Arg520Gln Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006252 p.Asp521His Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006253 p.Asp521Asn Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006254 p.Arg525Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006255 p.Arg525Gln Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006256 p.Asn526Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006257 p.Leu542Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006258 p.Arg544Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006259 p.Arg562Pro Disease rs28935176 X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006260 p.Arg562Trp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006261 p.Glu567Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006262 p.Trp581Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006263 p.Ala582Val Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006264 p.Met587Leu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006265 p.Glu589Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006267 p.Ser592Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006268 p.Gly594Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006269 p.Gly594Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006270 p.Tyr598Cys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006271 p.Ala607Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006272 p.Gly613Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006273 p.Pro619Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006274 p.Met630Ile Polymorphism - -
BTK Q06187 VAR_006275 p.Met630Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006276 p.Cys633Tyr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006277 p.Arg641Cys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006278 p.Arg641His Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006279 p.Phe644Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006280 p.Leu647Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_006281 p.Leu652Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008291 p.Lys19Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008292 p.Lys27Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008293 p.Arg28Cys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008294 p.Tyr40Cys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008295 p.Tyr40Asn Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008296 p.Ile61Asn Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008297 p.Val64Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008298 p.Ser115Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008299 p.Thr117Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008300 p.Gln127His Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008301 p.Cys154Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008302 p.Cys155Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008303 p.Cys155Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008304 p.Thr184Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008305 p.Arg288Gln Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008306 p.Gly302Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008307 p.Arg307Thr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008308 p.Asp308Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008309 p.Val319Ala Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008310 p.Ser366Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008311 p.Leu369Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008312 p.Arg372Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008313 p.Gly414Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008314 p.Lys430Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008315 p.Glu445Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008316 p.Gly462Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008317 p.Gly462Val Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008318 p.Ala508Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008319 p.Met509Ile Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008320 p.Leu518Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008321 p.Asp521Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008322 p.Ala523Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008323 p.Arg525Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008324 p.Val535Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008325 p.Phe559Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008326 p.Trp563Leu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008327 p.Phe583Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008328 p.Glu589Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008330 p.Pro619Ala Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008331 p.Pro619Thr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008332 p.Ala622Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008333 p.Val626Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008334 p.Met630Thr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008335 p.Phe644Leu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008960 p.Tyr39Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008961 p.Leu512Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008962 p.Leu512Gln Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008963 p.Arg544Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008964 p.Ser578Tyr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_008965 p.Glu589Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755]
BTK Q06187 VAR_041676 p.Arg82Lys Polymorphism rs56035945 -
BTK Q06187 VAR_041677 p.Pro190Lys Unclassified - A lung large cell carcinoma sample
BTLA Q7Z6A9 VAR_027607 p.Arg157Ser Polymorphism rs2931761 -
BTLA Q7Z6A9 VAR_027608 p.Pro267Leu Polymorphism rs9288952 -
BTLA Q7Z6A9 VAR_056027 p.Ile124Val Polymorphism rs16859633 -
BTN1A1 Q13410 VAR_021169 p.Ala213Thr Polymorphism rs3736781 -
BTN1A1 Q13410 VAR_026546 p.Asp503Glu Polymorphism rs9393728 -
BTN1A1 Q13410 VAR_030770 p.Val303Ala Polymorphism rs1980600 -
BTN1A1 Q13410 VAR_061302 p.Pro521Ser Polymorphism rs35555795 -
BTN2A1 Q7KYR7 VAR_049825 p.Arg124Cys Polymorphism rs3734539 -
BTN2A1 Q7KYR7 VAR_049826 p.Val207Met Polymorphism rs13195509 -
BTN2A1 Q7KYR7 VAR_049827 p.Arg378Gln Polymorphism rs3734542 -
BTN2A1 Q7KYR7 VAR_049828 p.Gly451Ala Polymorphism rs3734543 -
BTN2A1 Q7KYR7 VAR_061303 p.Trp178Cys Polymorphism rs13195402 -
BTN2A1 Q7KYR7 VAR_061304 p.Trp178Leu Polymorphism rs13195401 -
BTN2A2 Q8WVV5 VAR_049829 p.Pro479Ser Polymorphism rs16891646 -
BTN2A3P Q96KV6 VAR_049830 p.Gly79Asp Polymorphism rs7745238 -
BTN2A3P Q96KV6 VAR_049831 p.Val148Ile Polymorphism rs10946829 -
BTN2A3P Q96KV6 VAR_049832 p.Asn300Ser Polymorphism rs2893848 -
BTN3A1 O00481 VAR_021170 p.Ser224Asn Polymorphism rs1057933 -
BTN3A1 O00481 VAR_028788 p.Pro456Thr Polymorphism rs4712990 -
BTN3A1 O00481 VAR_061305 p.Arg15His Polymorphism rs56161420 -
BTN3A1 O00481 VAR_061306 p.Arg282Thr Polymorphism rs41266839 -
BTN3A2 P78410 VAR_026211 p.Asn181Asp Polymorphism rs9358936 -
BTN3A2 P78410 VAR_049833 p.Arg167Thr Polymorphism rs9379861 -
BTN3A2 P78410 VAR_049834 p.Ala182Thr Polymorphism rs12205731 -
BTN3A2 P78410 VAR_049835 p.Arg211Lys Polymorphism rs35183513 -
BTN3A2 P78410 VAR_049836 p.Ser307Asn Polymorphism rs13216828 -
BTNL2 Q9UIR0 VAR_021171 p.Lys196Glu Polymorphism rs2076523 -
BTNL2 Q9UIR0 VAR_029128 p.Ser334Leu Polymorphism rs28362679 -
BTNL2 Q9UIR0 VAR_033602 p.Trp94Arg Polymorphism rs28362682 -
BTNL2 Q9UIR0 VAR_033603 p.Asp283Val Polymorphism rs34423804 -
BTNL2 Q9UIR0 VAR_033604 p.Ala352Thr Polymorphism rs35037492 -
BTNL2 Q9UIR0 VAR_033605 p.Pro379Leu Polymorphism rs28362678 -
BTNL2 Q9UIR0 VAR_033606 p.Met380Ile Polymorphism rs28362677 -
BTNL2 Q9UIR0 VAR_033607 p.Pro393Gln Polymorphism rs41521946 -
BTNL2 Q9UIR0 VAR_049837 p.Val188Met Polymorphism rs9461742 -
BTNL2 Q9UIR0 VAR_049838 p.Ser360Gly Polymorphism rs2076530 -
BTNL2 Q9UIR0 VAR_061307 p.Arg181Gln Polymorphism rs28362681 -
BTNL2 Q9UIR0 VAR_061308 p.Ala202Val Polymorphism rs28362680 -
BTNL8 Q6UX41 VAR_049839 p.Thr143Ala Polymorphism rs2276995 -
BTNL8 Q6UX41 VAR_049840 p.Glu229Lys Polymorphism rs7724813 -
BTNL9 Q6UXG8 VAR_049841 p.Gly511Arg Polymorphism rs10068763 -
BTRC Q9Y297 VAR_020119 p.Pro592His Polymorphism rs2270439 -
BTRC Q9Y297 VAR_022027 p.Ala543Ser Polymorphism rs4151060 -
BUB1 O43683 VAR_008849 p.Glu36Asp Unclassified rs1801328 Colorectal cancer
BUB1 O43683 VAR_008850 p.Ser492Tyr Unclassified - Colorectal cancer
BUB1 O43683 VAR_008851 p.Pro648Arg Unclassified - Colorectal cancer
BUB1 O43683 VAR_015687 p.Tyr259Cys Unclassified - Pancreatic cancer
BUB1 O43683 VAR_015688 p.His265Asn Unclassified - Pancreatic cancer
BUB1 O43683 VAR_040400 p.Gly20Asp Polymorphism rs35890336 -
BUB1 O43683 VAR_040401 p.Asn534Asp Polymorphism rs36109304 -
BUB1B O60566 VAR_008852 p.Met15Thr Unclassified - A colorectal cancer cell line
BUB1B O60566 VAR_008853 p.Arg349Gln Polymorphism rs1801376 -
BUB1B O60566 VAR_008854 p.Val618Ala Unclassified rs1801528 Colorectal cancer
BUB1B O60566 VAR_028921 p.Arg36Gln Disease - Premature chromatid separation trait (PCS) [MIM:176430]
BUB1B O60566 VAR_028922 p.Glu390Asp Polymorphism rs1017842 -
BUB1B O60566 VAR_028923 p.Arg550Gln Disease rs28989187 Mosaic variegated aneuploidy syndrome type 1 (MVA1) [MIM:257300]
BUB1B O60566 VAR_028924 p.Arg814His Disease rs28989182 Mosaic variegated aneuploidy syndrome type 1 (MVA1) [MIM:257300]
BUB1B O60566 VAR_028925 p.Leu844Phe Disease rs28989181 Mosaic variegated aneuploidy syndrome type 1 (MVA1) [MIM:257300]
BUB1B O60566 VAR_028926 p.Ile909Thr Disease rs28989184 Mosaic variegated aneuploidy syndrome type 1 (MVA1) [MIM:257300]
BUB1B O60566 VAR_028927 p.Gln921His Disease rs28989183 Mosaic variegated aneuploidy syndrome type 1 (MVA1) [MIM:257300]
BUB1B O60566 VAR_028928 p.Leu1012Pro Disease rs28989185 Mosaic variegated aneuploidy syndrome type 1 (MVA1) [MIM:257300]
BUB1B O60566 VAR_040402 p.Thr40Met Polymorphism rs56079734 -
BUB1B O60566 VAR_054549 p.Pro378Ser Polymorphism rs17851677 -
BUD13 Q9BRD0 VAR_032343 p.Arg120Cys Polymorphism rs10488698 -
BUD13 Q9BRD0 VAR_032344 p.Pro148Leu Polymorphism rs11820589 -
BUD13 Q9BRD0 VAR_032345 p.Arg242Ile Polymorphism rs11216131 -
BUD13 Q9BRD0 VAR_053908 p.Ser388Cys Polymorphism rs35004487 -
BVES Q8NE79 VAR_017155 p.Arg129Trp Polymorphism rs2275289 -
BVES Q8NE79 VAR_053600 p.Met127Ile Polymorphism rs9486039 -
BYSL Q13895 VAR_033641 p.Glu103Lys Polymorphism rs2296916 -
BYSL Q13895 VAR_048439 p.Pro426Ser Polymorphism rs3828855 -
BZRAP1 O95153 VAR_017446 p.Gln514Arg Polymorphism rs2072145 -
BZRAP1 O95153 VAR_017447 p.Ala586Thr Polymorphism rs2072147 -
BZRAP1 O95153 VAR_017448 p.His1118Leu Polymorphism rs3744099 -
BZRAP1 O95153 VAR_017449 p.Ala1140Pro Polymorphism rs2680704 -
BZRAP1 O95153 VAR_017450 p.Arg1253Cys Polymorphism rs3744101 -
BZRAP1 O95153 VAR_017451 p.Gly1830Glu Polymorphism rs2301868 -
BZRAP1 O95153 VAR_031662 p.Gln817Arg Polymorphism rs9913145 -
BZRAP1 O95153 VAR_031663 p.Trp851Arg Polymorphism rs9905604 -
BZRAP1 O95153 VAR_031664 p.His1728Arg Polymorphism rs11079346 -
BZW2 Q9Y6E2 VAR_033642 p.Asp44Ala Polymorphism rs35233079 -
C10orf11 Q9H2I8 VAR_033686 p.Ser153Phe Polymorphism rs35349706 -
C10orf111 Q8N326 VAR_050857 p.Arg70Lys Polymorphism rs7896053 -
C10orf112 Q5VYJ5 VAR_042585 p.Asp562Ala Polymorphism rs7100382 -
C10orf112 Q5VYJ5 VAR_042586 p.Ile573Val Polymorphism rs7100403 -
C10orf112 Q5VYJ5 VAR_042587 p.Lys653Asn Polymorphism rs1609746 -
C10orf112 Q5VYJ5 VAR_042588 p.Val713Ala Polymorphism rs10827306 -
C10orf112 Q5VYJ5 VAR_042589 p.Asp809Gly Polymorphism rs12773592 -
C10orf112 Q5VYJ5 VAR_042590 p.Glu812Lys Polymorphism rs12771333 -
C10orf112 Q5VYJ5 VAR_042591 p.Thr917Met Polymorphism rs10763974 -
C10orf112 Q5VYJ5 VAR_042592 p.Val958Ile Polymorphism rs10763975 -
C10orf112 Q5VYJ5 VAR_042593 p.Lys1033Glu Polymorphism rs2184035 -
C10orf112 Q5VYJ5 VAR_042594 p.Leu1049Ile Polymorphism rs16918863 -
C10orf112 Q5VYJ5 VAR_042595 p.His1087Gln Polymorphism rs12256835 -
C10orf112 Q5VYJ5 VAR_042596 p.Met1173Thr Polymorphism rs7100661 -
C10orf112 Q5VYJ5 VAR_042597 p.Pro1261Ser Polymorphism rs16919132 -
C10orf112 Q5VYJ5 VAR_042598 p.Ser1307Asn Polymorphism rs10827628 -
C10orf112 Q5VYJ5 VAR_042599 p.Met1379Arg Polymorphism rs16919148 -
C10orf113 Q5VZT2 VAR_028801 p.Asp110His Polymorphism rs625223 -
C10orf113 Q5VZT2 VAR_050858 p.Arg72Gly Polymorphism rs11591355 -
C10orf114 Q5T4H9 VAR_033739 p.Arg73Pro Polymorphism rs11012724 -
C10orf118 Q7Z3E2 VAR_023047 p.Thr85Ile Polymorphism rs1061159 -
C10orf118 Q7Z3E2 VAR_023048 p.Arg179Gln Polymorphism rs12782946 -
C10orf118 Q7Z3E2 VAR_023049 p.Gln271Lys Polymorphism rs7095762 -
C10orf12 Q8N655 VAR_033687 p.Asn49Ser Polymorphism rs11188980 -
C10orf12 Q8N655 VAR_033688 p.Leu314Pro Polymorphism rs7082522 -
C10orf12 Q8N655 VAR_033689 p.Pro401Ala Polymorphism rs34104025 -
C10orf12 Q8N655 VAR_033690 p.Ile535Leu Polymorphism rs3829856 -
C10orf12 Q8N655 VAR_050846 p.Glu396Gly Polymorphism rs35128733 -
C10orf12 Q8N655 VAR_050847 p.Thr556Pro Polymorphism rs7894200 -
C10orf12 Q8N655 VAR_059605 p.Asn579Ser Polymorphism rs7894315 -
C10orf12 Q8N655 VAR_059606 p.Arg614Gly Polymorphism rs7894545 -
C10orf12 Q8N655 VAR_059607 p.Ala716Pro Polymorphism rs7895159 -
C10orf120 Q5SQS8 VAR_050859 p.Thr20Lys Polymorphism rs41448048 -
C10orf120 Q5SQS8 VAR_050860 p.Ala269Thr Polymorphism rs2947594 -
C10orf122 Q5VZQ5 VAR_059615 p.Glu38Gln Polymorphism rs9422915 -
C10orf128 Q5T292 VAR_035409 p.Pro83Leu Polymorphism rs12257132 -
C10orf25 Q5T742 VAR_047102 p.Ile63Asn Polymorphism rs12269028 -
C10orf25 Q5T742 VAR_061603 p.Pro61Leu Polymorphism rs41301609 -
C10orf47 Q86WR7 VAR_023097 p.Ala412Val Polymorphism rs12253554 -
C10orf54 Q9H7M9 VAR_028036 p.Asp187Glu Polymorphism rs3747869 -
C10orf62 Q5T681 VAR_030216 p.Glu121Asp Polymorphism rs7093840 -
C10orf68 Q9H943 VAR_024308 p.Met510Thr Polymorphism rs2504011 -
C10orf68 Q9H943 VAR_033692 p.Gly388Ala Polymorphism rs4448627 -
C10orf68 Q9H943 VAR_033693 p.Val607Ile Polymorphism rs1418538 -
C10orf71 Q711Q0 VAR_031441 p.Asn208Lys Polymorphism rs4838383 -
C10orf71 Q711Q0 VAR_031442 p.His666Gln Polymorphism rs10857469 -
C10orf71 Q711Q0 VAR_059608 p.Phe698Ser Polymorphism rs7921186 -
C10orf71 Q711Q0 VAR_059609 p.Asp741Gly Polymorphism rs11101093 -
C10orf71 Q711Q0 VAR_059610 p.Asp883Asn Polymorphism rs12217617 -
C10orf71 Q711Q0 VAR_059611 p.Phe958Tyr Polymorphism rs10857470 -
C10orf71 Q711Q0 VAR_059612 p.Gly1084Ala Polymorphism rs11101094 -
C10orf71 Q711Q0 VAR_059613 p.Val1254Ile Polymorphism rs11101095 -
C10orf71 Q711Q0 VAR_059614 p.Gly1337Ser Polymorphism rs10857472 -
C10orf71 Q711Q0 VAR_061604 p.Arg320Leu Polymorphism rs56206226 -
C10orf71 Q711Q0 VAR_061605 p.Asp461Ala Polymorphism rs45554335 -
C10orf71 Q711Q0 VAR_061606 p.Val522Gly Polymorphism rs61453891 -
C10orf81 Q5SXH7 VAR_039275 p.Val337Ile Polymorphism rs34024791 -
C10orf82 Q8WW14 VAR_050854 p.Thr124Met Polymorphism rs11551267 -
C10orf90 Q96M02 VAR_030908 p.Arg134His Polymorphism rs11245008 -
C10orf90 Q96M02 VAR_030909 p.Asp262Asn Polymorphism rs11245007 -
C10orf90 Q96M02 VAR_050855 p.Met57Ile Polymorphism rs11558415 -
C10orf90 Q96M02 VAR_050856 p.Asp531Glu Polymorphism rs12412320 -
C10orf91 Q5T1B1 VAR_033694 p.Glu144Gly Polymorphism rs11146376 -
C10orf92 Q8IYW2 VAR_023208 p.Ala492Thr Polymorphism rs4880433 -
C10orf92 Q8IYW2 VAR_023209 p.Ser701Gly Polymorphism rs2254419 -
C10orf92 Q8IYW2 VAR_056823 p.Cys286Arg Polymorphism rs10870341 -
C10orf92 Q8IYW2 VAR_056824 p.Glu410Lys Polymorphism rs12356978 -
C10orf92 Q8IYW2 VAR_056825 p.Leu660Phe Polymorphism rs3750587 -
C10orf92 Q8IYW2 VAR_056826 p.Lys819Gln Polymorphism rs35981039 -
C10orf93 Q5SR76 VAR_046201 p.Ser264Asn Polymorphism rs12781609 -
C11orf1 Q9H5F2 VAR_050861 p.Lys49Gln Polymorphism rs11540721 -
C11orf1 Q9H5F2 VAR_050862 p.Gln85His Polymorphism rs3180820 -
C11orf1 Q9H5F2 VAR_054163 p.Val40Ala Polymorphism rs9280 -
C11orf16 Q9NQ32 VAR_056827 p.Pro144Leu Polymorphism rs2568076 -
C11orf16 Q9NQ32 VAR_056828 p.Val210Leu Polymorphism rs11042127 -
C11orf20 Q9NTU4 VAR_046370 p.Pro68Leu Polymorphism rs2286614 -
C11orf24 Q96F05 VAR_027713 p.Gly97Val Polymorphism rs3802746 -
C11orf24 Q96F05 VAR_027714 p.Ala150Thr Polymorphism rs901827 -
C11orf35 Q8IXW0 VAR_027732 p.Ala44Thr Polymorphism rs2061586 -
C11orf36 Q2M3A8 VAR_027707 p.Glu6Ala Polymorphism rs11026002 -
C11orf36 Q2M3A8 VAR_027708 p.Ser135Phe Polymorphism rs11026004 -
C11orf36 Q2M3A8 VAR_027709 p.Gly142Val Polymorphism rs12280457 -
C11orf40 Q8WZ69 VAR_029581 p.Phe100Ser Polymorphism rs12795289 -
C11orf42 Q8N5U0 VAR_026831 p.Pro242Ser Polymorphism rs10769671 -
C11orf46 Q8N8R7 VAR_033740 p.Thr180Pro Polymorphism rs7940297 -
C11orf52 Q96A22 VAR_029587 p.Thr23Arg Polymorphism rs7124407 -
C11orf63 Q6NUN7 VAR_050863 p.His486Arg Polymorphism rs33999612 -
C11orf67 Q9H7C9 VAR_052696 p.Val92Met Polymorphism rs2186564 -
C11orf68 Q9H3H3 VAR_060319 p.Gln154Arg Polymorphism rs7947504 -
C11orf72 Q8NBR9 VAR_029584 p.Pro22Thr Polymorphism rs12421329 -
C11orf73 Q53FT3 VAR_026968 p.Pro47Ala Polymorphism rs11539213 -
C11orf84 Q9BUA3 VAR_061607 p.Glu58Gln Polymorphism rs35875163 -
C11orf94 C9JXX5 VAR_063154 p.Gln80His Polymorphism rs2271849 -
C11orf96 Q7Z7L8 VAR_039242 p.Thr26Ala Polymorphism rs1973717 -
C11orf96 Q7Z7L8 VAR_039243 p.Ser47Pro Polymorphism rs12797684 -
C11orf96 Q7Z7L8 VAR_039244 p.Arg110Ser Polymorphism rs12796438 -
C11orf96 Q7Z7L8 VAR_039245 p.Arg144Cys Polymorphism rs12796667 -
C11orf96 Q7Z7L8 VAR_039246 p.Phe151Ser Polymorphism rs12798337 -
C11orf96 Q7Z7L8 VAR_039247 p.Pro352Ser Polymorphism rs2434483 -
C12orf10 Q9HB07 VAR_059854 p.Thr349Ile Polymorphism rs1534282 -
C12orf11 Q9NVM9 VAR_035673 p.Ser227Pro Unclassified - A colorectal cancer sample
C12orf11 Q9NVM9 VAR_050864 p.Met66Thr Polymorphism rs2306852 -
C12orf12 Q8TC90 VAR_032512 p.Ile379Met Polymorphism rs17855513 -
C12orf12 Q8TC90 VAR_059617 p.Asp286Glu Polymorphism rs11105882 -
C12orf24 Q8WUB2 VAR_032513 p.Arg225Gly Polymorphism rs17188964 -
C12orf26 Q8N6Q8 VAR_027779 p.Gln249Lys Polymorphism rs4296098 -
C12orf28 Q96LU7 VAR_027780 p.Ala118Ser Polymorphism rs11177991 -
C12orf28 Q96LU7 VAR_027781 p.Met210Leu Polymorphism rs10879065 -
C12orf28 Q96LU7 VAR_033742 p.Ser88Leu Polymorphism rs35051828 -
C12orf29 Q8N999 VAR_035197 p.Pro23Leu Polymorphism rs11541954 -
C12orf29 Q8N999 VAR_035198 p.Val238Leu Polymorphism rs9262 -
C12orf35 Q9HCM1 VAR_033268 p.Ile59Val Polymorphism rs7298803 -
C12orf35 Q9HCM1 VAR_033269 p.His106Gln Polymorphism rs2388981 -
C12orf35 Q9HCM1 VAR_033270 p.Ile202Val Polymorphism rs12320740 -
C12orf35 Q9HCM1 VAR_033271 p.Leu250Pro Polymorphism rs2166807 -
C12orf35 Q9HCM1 VAR_033272 p.Arg309Gln Polymorphism rs16919122 -
C12orf35 Q9HCM1 VAR_033273 p.Ser346Asn Polymorphism rs3207618 -
C12orf35 Q9HCM1 VAR_033274 p.Ser352Gly Polymorphism rs10771894 -
C12orf35 Q9HCM1 VAR_033275 p.Ser433Thr Polymorphism rs3759302 -
C12orf35 Q9HCM1 VAR_033276 p.Ser518Pro Polymorphism rs3759301 -
C12orf35 Q9HCM1 VAR_033277 p.Phe954Ser Polymorphism rs3809228 -
C12orf35 Q9HCM1 VAR_033278 p.Thr1010Lys Polymorphism rs16919127 -
C12orf35 Q9HCM1 VAR_033279 p.Ser1208Cys Polymorphism rs3759299 -
C12orf35 Q9HCM1 VAR_033280 p.Val1226Ile Polymorphism rs1057994 -
C12orf35 Q9HCM1 VAR_033281 p.Thr1338Ala Polymorphism rs3759296 -
C12orf35 Q9HCM1 VAR_061608 p.Pro147Ser Polymorphism rs61353224 -
C12orf35 Q9HCM1 VAR_061609 p.Met1479Thr Polymorphism rs56682866 -
C12orf36 Q495D7 VAR_030221 p.Pro38Leu Polymorphism rs11055389 -
C12orf36 Q495D7 VAR_030222 p.Ala76Glu Polymorphism rs17821405 -
C12orf36 Q495D7 VAR_030223 p.Ile84Val Polymorphism rs7308685 -
C12orf40 Q86WS4 VAR_061610 p.Ile13Leu Polymorphism rs58302581 -
C12orf41 Q9H9L4 VAR_030767 p.Asn313Ser Polymorphism rs17238800 -
C12orf41 Q9H9L4 VAR_030768 p.Pro445Thr Polymorphism rs3741628 -
C12orf42 Q96LP6 VAR_030229 p.Glu11Asp Polymorphism rs10778257 -
C12orf42 Q96LP6 VAR_030230 p.Pro182Arg Polymorphism rs7484376 -
C12orf43 Q96C57 VAR_030491 p.Gly44Arg Polymorphism rs16950706 -
C12orf45 Q8N5I9 VAR_056833 p.Gly5Ser Polymorphism rs12580271 -
C12orf45 Q8N5I9 VAR_060438 p.Lys8Gln Polymorphism rs1129593 -
C12orf48 Q9NWS1 VAR_031105 p.Val400Met Polymorphism rs12227879 -
C12orf49 Q9H741 VAR_033154 p.Gln55Arg Polymorphism rs10507274 -
C12orf50 Q8NA57 VAR_033266 p.Gln306Arg Polymorphism rs10777084 -
C12orf50 Q8NA57 VAR_033267 p.Arg322His Polymorphism rs11104703 -
C12orf54 Q6X4T0 VAR_030252 p.Pro86Ser Polymorphism rs11458 -
C12orf55 Q96N23 VAR_056834 p.Pro11Ser Polymorphism rs3809197 -
C12orf55 Q96N23 VAR_056835 p.Thr558Ala Polymorphism rs2160501 -
C12orf55 Q96N23 VAR_056836 p.Leu562Phe Polymorphism rs2160502 -
C12orf60 Q5U649 VAR_030226 p.Lys51Arg Polymorphism rs17853860 -
C12orf60 Q5U649 VAR_030227 p.Lys65Arg Polymorphism rs7304054 -
C12orf60 Q5U649 VAR_030228 p.Asn103Lys Polymorphism rs7307438 -
C12orf63 Q6ZTY8 VAR_029606 p.Gly387Ser Polymorphism rs11108639 -
C12orf63 Q6ZTY8 VAR_029607 p.Leu593Pro Polymorphism rs11108643 -
C12orf63 Q6ZTY8 VAR_029608 p.Glu666Lys Polymorphism rs7968231 -
C12orf63 Q6ZTY8 VAR_029609 p.Glu710Lys Polymorphism rs10860073 -
C12orf63 Q6ZTY8 VAR_029610 p.Val783Ala Polymorphism rs7978894 -
C12orf63 Q6ZTY8 VAR_029611 p.Ser790Asn Polymorphism rs1990828 -
C12orf63 Q6ZTY8 VAR_029612 p.Pro1107His Polymorphism rs12581184 -
C12orf65 Q9H3J6 VAR_037325 p.Ala134Thr Polymorphism rs1045496 -
C12orf66 Q96MD2 VAR_039371 p.Met139Ile Polymorphism rs2335390 -
C12orf66 Q96MD2 VAR_039372 p.Ala443Ser Polymorphism rs699638 -
C12orf68 Q52MB2 VAR_060278 p.Glu140Asp Polymorphism rs10783231 -
C12orf69 A2RU48 VAR_043558 p.Cys49Arg Polymorphism rs11609202 -
C12orf69 A2RU48 VAR_043559 p.Lys75Arg Polymorphism rs2241221 -
C12orf71 A8MTZ7 VAR_056837 p.Ile140Val Polymorphism rs708167 -
C12orf73 Q69YU5 VAR_062284 p.Arg45Cys Polymorphism rs2293624 -
C12orf76 Q8N812 VAR_039916 p.Ala26Thr Unclassified - A colorectal cancer sample
C12orf77 C9JDV5 VAR_062957 p.Leu131Phe Polymorphism rs864161 -
C13orf26 Q8N6G2 VAR_029615 p.Lys231Asn Polymorphism rs9533168 -
C13orf30 Q8N7L0 VAR_033743 p.Arg134Cys Polymorphism rs35889214 -
C13orf33 Q5VYS4 VAR_030261 p.Arg59Gly Polymorphism rs9531945 -
C14orf101 Q9NX78 VAR_057823 p.Ala245Ser Polymorphism rs17776256 -
C14orf101 Q9NX78 VAR_057824 p.Ser565Asn Polymorphism rs1041316 -
C14orf102 Q9H7Z3 VAR_057813 p.Cys32Phe Polymorphism rs7140914 -
C14orf102 Q9H7Z3 VAR_060343 p.Asn1118Ser Polymorphism rs3737035 -
C14orf102 Q9H7Z3 VAR_062239 p.Glu928Lys Polymorphism rs59039343 -
C14orf105 Q9NVL8 VAR_024310 p.Tyr235Cys Polymorphism rs1152530 -
C14orf118 Q9NWQ4 VAR_056838 p.Val132Glu Polymorphism rs17104086 -
C14orf119 Q9NWQ9 VAR_033744 p.Leu16Val Polymorphism rs35065609 -
C14orf126 Q96FN9 VAR_028802 p.Arg6Trp Polymorphism rs17097904 -
C14orf135 Q63HM2 VAR_028745 p.Gln770His Polymorphism rs3742642 -
C14orf135 Q63HM2 VAR_028746 p.Asp811Tyr Polymorphism rs12895606 -
C14orf135 Q63HM2 VAR_028747 p.Gly1000Ser Polymorphism rs167437 -
C14orf149 Q96EM0 VAR_032540 p.Val42Ala Polymorphism rs17096291 -
C14orf149 Q96EM0 VAR_032541 p.Ala315Val Polymorphism rs1046701 -
C14orf149 Q96EM0 VAR_032542 p.Ile341Val Polymorphism rs8660 -
C14orf149 Q96EM0 VAR_062192 p.Pro125Ser Polymorphism rs35622288 -
C14orf159 Q7Z3D6 VAR_018738 p.Arg10Cys Polymorphism rs10142502 -
C14orf159 Q7Z3D6 VAR_018739 p.Asp502Asn Polymorphism rs2295524 -
C14orf159 Q7Z3D6 VAR_052599 p.Ser237Asn Polymorphism rs34302825 -
C14orf159 Q7Z3D6 VAR_052600 p.Ala372Thr Polymorphism rs12895348 -
C14orf159 Q7Z3D6 VAR_052601 p.Asp507Asn Polymorphism rs34523602 -
C14orf159 Q7Z3D6 VAR_052602 p.Gly583Asp Polymorphism rs34748911 -
C14orf177 Q52M58 VAR_030224 p.Arg3Trp Polymorphism rs17097718 -
C14orf177 Q52M58 VAR_030225 p.Val33Ala Polymorphism rs4905757 -
C14orf178 Q8N769 VAR_030248 p.His26Tyr Polymorphism rs8015313 -
C14orf182 A1A4T8 VAR_060125 p.Pro38Leu Polymorphism rs6572635 -
C14orf21 Q86U38 VAR_024600 p.Ser308Asn Polymorphism rs4280164 -
C14orf21 Q86U38 VAR_036456 p.Ser497Tyr Unclassified - A breast cancer sample
C14orf21 Q86U38 VAR_036457 p.Arg626Gln Unclassified - A breast cancer sample
C14orf21 Q86U38 VAR_051612 p.Pro51Ser Polymorphism rs11848295 -
C14orf37 Q86TY3 VAR_027782 p.Thr96Ile Polymorphism rs3829765 -
C14orf37 Q86TY3 VAR_027783 p.Ala391Val Polymorphism rs1018504 -
C14orf37 Q86TY3 VAR_027784 p.Val528Phe Polymorphism rs12886921 -
C14orf37 Q86TY3 VAR_027785 p.Gln613Glu Polymorphism rs2273442 -
C14orf38 P0C221 VAR_050871 p.Gly164Arg Polymorphism rs17834244 -
C14orf38 P0C221 VAR_050872 p.Gly507Glu Polymorphism rs4261431 -
C14orf38 P0C221 VAR_050873 p.Ser689Asn Polymorphism rs12887189 -
C14orf38 P0C221 VAR_050874 p.Ser689Arg Polymorphism rs4394993 -
C14orf43 Q6PJG2 VAR_050182 p.Ala86Val Polymorphism rs35302179 -
C14orf43 Q6PJG2 VAR_050183 p.Pro554Leu Polymorphism rs17782124 -
C14orf43 Q6PJG2 VAR_061361 p.Asp895Asn Polymorphism rs35905570 -
C14orf45 Q8ND07 VAR_027815 p.Lys496Glu Polymorphism rs3742809 -
C14orf45 Q8ND07 VAR_059618 p.Arg58Gln Polymorphism rs3784039 -
C14orf45 Q8ND07 VAR_059619 p.Arg183Lys Polymorphism rs17182762 -
C14orf45 Q8ND07 VAR_059620 p.Asp230Val Polymorphism rs3784038 -
C14orf49 Q6ZMZ3 VAR_031231 p.Thr668Met Polymorphism rs9671369 -
C14orf49 Q6ZMZ3 VAR_031232 p.Arg864His Polymorphism rs17092216 -
C14orf49 Q6ZMZ3 VAR_031233 p.Ala923Val Polymorphism rs12434757 -
C14orf49 Q6ZMZ3 VAR_031234 p.Ile946Val Polymorphism rs10130647 -
C14orf70 Q86TU6 VAR_029588 p.Glu21Asp Polymorphism rs8011237 -
C14orf82 P0C7T7 VAR_044499 p.Gly115Arg Polymorphism rs11845396 -
C14orf93 Q9H972 VAR_050875 p.Ala190Val Polymorphism rs3829409 -
C15orf2 Q9NZP6 VAR_026872 p.Val212Ala Polymorphism rs3784246 -
C15orf2 Q9NZP6 VAR_026873 p.Gly253Arg Polymorphism rs1563102 -
C15orf2 Q9NZP6 VAR_026874 p.Asn282Ser Polymorphism rs7165533 -
C15orf2 Q9NZP6 VAR_026875 p.Gln406Glu Polymorphism rs3742950 -
C15orf2 Q9NZP6 VAR_035682 p.Arg37Gln Unclassified - A colorectal cancer sample
C15orf2 Q9NZP6 VAR_035683 p.Val114Ile Unclassified - A colorectal cancer sample
C15orf2 Q9NZP6 VAR_050878 p.Pro34Gln Polymorphism rs35022251 -
C15orf2 Q9NZP6 VAR_050879 p.Trp152Arg Polymorphism rs35870568 -
C15orf2 Q9NZP6 VAR_050880 p.Pro343Ala Polymorphism rs36025315 -
C15orf2 Q9NZP6 VAR_050881 p.Ala757Thr Polymorphism rs36032407 -
C15orf2 Q9NZP6 VAR_050882 p.Thr929Pro Polymorphism rs34413216 -
C15orf26 Q6P656 VAR_050883 p.Pro284Ser Polymorphism rs2279997 -
C15orf27 Q2M3C6 VAR_026880 p.Arg391His Polymorphism rs937732 -
C15orf27 Q2M3C6 VAR_026881 p.Pro427Leu Polymorphism rs937733 -
C15orf32 Q32M92 VAR_050884 p.Ala17Thr Polymorphism rs1455773 -
C15orf37 Q8NBB2 VAR_050885 p.Val62Ala Polymorphism rs2733102 -
C15orf39 Q6ZRI6 VAR_026891 p.Ala119Pro Polymorphism rs1873379 -
C15orf39 Q6ZRI6 VAR_026892 p.Gly491Asp Polymorphism rs11072532 -
C15orf39 Q6ZRI6 VAR_026893 p.Ser536Ala Polymorphism rs28509789 -
C15orf39 Q6ZRI6 VAR_026894 p.Gly945Asp Polymorphism rs3743211 -
C15orf41 Q9Y2V0 VAR_059622 p.Leu73Val Polymorphism rs3784678 -
C15orf43 Q8NHR7 VAR_029614 p.Pro31Arg Polymorphism rs11638723 -
C15orf52 Q6ZUT6 VAR_035620 p.Gly189Glu Unclassified - A colorectal cancer sample
C15orf53 Q8NAA6 VAR_044023 p.Leu3Val Polymorphism rs7165988 -
C15orf53 Q8NAA6 VAR_044024 p.Ala39Val Polymorphism rs11857596 -
C15orf54 Q8N8G6 VAR_044189 p.Thr59Met Polymorphism rs11853050 -
C15orf54 Q8N8G6 VAR_044190 p.Glu77Lys Polymorphism rs16968547 -
C15orf56 Q8N910 VAR_061614 p.Pro119Ser Polymorphism rs55863440 -
C15orf56 Q8N910 VAR_061615 p.Pro151Arg Polymorphism rs55974545 -
C15orf56 Q8N910 VAR_061616 p.Ile160Thr Polymorphism rs55799438 -
C15orf57 Q9BV29 VAR_034743 p.Lys2Ile Polymorphism rs10152546 -
C15orf58 Q6ZNW5 VAR_043555 p.Met37Thr Polymorphism rs7171194 -
C15orf58 Q6ZNW5 VAR_043556 p.Pro264Thr Polymorphism rs10152994 -
C15orf58 Q6ZNW5 VAR_043557 p.Thr307Ile Polymorphism rs10153004 -
C15orf60 Q7Z4M0 VAR_050893 p.Val148Met Polymorphism rs12102004 -
C16orf13 Q96S19 VAR_064368 p.Leu136Pro Polymorphism - -
C16orf3 O95177 VAR_056843 p.Val72Ile Polymorphism rs3785183 -
C16orf46 Q6P387 VAR_030893 p.Thr77Ser Polymorphism rs17855893 -
C16orf46 Q6P387 VAR_030894 p.Ile288Thr Polymorphism rs7198494 -
C16orf46 Q6P387 VAR_030895 p.Tyr335His Polymorphism rs10459872 -
C16orf46 Q6P387 VAR_030896 p.Lys357Glu Polymorphism rs9930623 -
C16orf46 Q6P387 VAR_030897 p.Pro388Ser Polymorphism rs12929250 -
C16orf55 Q96N06 VAR_050897 p.Ser45Leu Polymorphism rs13329897 -
C16orf57 Q9BQ65 VAR_030277 p.Gln250Glu Polymorphism rs16959641 -
C16orf57 Q9BQ65 VAR_053822 p.Arg115Lys Polymorphism rs35025252 -
C16orf58 Q96GQ5 VAR_031439 p.Tyr185Cys Polymorphism rs17855405 -
C16orf58 Q96GQ5 VAR_036485 p.Gly43Glu Unclassified - A breast cancer sample
C16orf59 Q7L2K0 VAR_032115 p.Arg346Lys Polymorphism rs34948268 -
C16orf61 Q9NRP2 VAR_033816 p.Thr11Ser Polymorphism rs2303217 -
C16orf62 Q7Z3J2 VAR_037230 p.Tyr32Cys Polymorphism rs17854969 -
C16orf62 Q7Z3J2 VAR_037231 p.Asn186Ile Polymorphism rs7206637 -
C16orf62 Q7Z3J2 VAR_037232 p.Ala506Val Polymorphism rs17854970 -
C16orf71 Q8IYS4 VAR_033157 p.Glu88Asp Polymorphism rs17137215 -
C16orf71 Q8IYS4 VAR_033158 p.Pro143Ser Polymorphism rs17137230 -
C16orf71 Q8IYS4 VAR_033159 p.Ser190Leu Polymorphism rs35599524 -
C16orf71 Q8IYS4 VAR_033160 p.Glu232Lys Polymorphism rs35002791 -
C16orf71 Q8IYS4 VAR_033161 p.Ala241Val Polymorphism rs7202010 -
C16orf71 Q8IYS4 VAR_033162 p.Arg302Cys Polymorphism rs2075469 -
C16orf71 Q8IYS4 VAR_033163 p.Gln354Arg Polymorphism rs737700 -
C16orf71 Q8IYS4 VAR_061618 p.Pro465Leu Polymorphism rs17853375 -
C16orf72 Q14CZ0 VAR_034657 p.Asn221Ser Polymorphism rs34869458 -
C16orf73 Q8N635 VAR_043620 p.Ile261Thr Polymorphism rs9806945 -
C16orf73 Q8N635 VAR_059624 p.Lys75Thr Polymorphism rs1657125 -
C16orf73 Q8N635 VAR_061619 p.Thr18Pro Polymorphism rs1742446 -
C16orf78 Q8WTQ4 VAR_034632 p.Arg152Gln Polymorphism rs16947350 -
C16orf79 Q6PL45 VAR_031629 p.Val46Ile Polymorphism rs26857 -
C16orf79 Q6PL45 VAR_061620 p.Ser31Gly Polymorphism rs26856 -
C16orf79 Q6PL45 VAR_061621 p.His122Tyr Polymorphism rs58292351 -
C16orf85 Q6ZSH3 VAR_044191 p.Glu145Asp Polymorphism rs2879897 -
C16orf88 Q1ED39 VAR_039387 p.Ala266Val Polymorphism rs2074036 -
C16orf88 Q1ED39 VAR_061716 p.Arg28Gln Polymorphism rs11640454 -
C16orf88 Q1ED39 VAR_061717 p.Val276Ala Polymorphism rs28424569 -
C16orf89 Q6UX73 VAR_040004 p.Leu296Ser Polymorphism rs1127920 -
C16orf89 Q6UX73 VAR_040005 p.Tyr363His Polymorphism rs11642955 -
C16orf89 Q6UX73 VAR_057992 p.Gly215Ala Polymorphism rs17853191 -
C17orf101 Q6PK18 VAR_039948 p.Asp67Glu Polymorphism rs8072110 -
C17orf101 Q6PK18 VAR_039949 p.Pro272Arg Polymorphism rs17852152 -
C17orf102 A2RUQ5 VAR_046187 p.Gly98Arg Polymorphism rs58529418 -
C17orf102 A2RUQ5 VAR_046188 p.Arg155Lys Polymorphism rs887230 -
C17orf104 A2RUB1 VAR_039917 p.Met311Leu Polymorphism rs8073475 -
C17orf104 A2RUB1 VAR_039918 p.Asn320Thr Polymorphism rs9907151 -
C17orf46 Q96LK8 VAR_060279 p.Val142Met Polymorphism rs11651968 -
C17orf47 Q8NEP4 VAR_032122 p.Pro88Thr Polymorphism rs8071623 -
C17orf47 Q8NEP4 VAR_032123 p.Gly461Ser Polymorphism rs17822735 -
C17orf47 Q8NEP4 VAR_032124 p.Cys546Gly Polymorphism rs16943091 -
C17orf48 Q3LIE5 VAR_032125 p.Leu92Arg Polymorphism rs34940296 -
C17orf48 Q3LIE5 VAR_032126 p.Glu337Gly Polymorphism rs406446 -
C17orf50 Q8WW18 VAR_050899 p.Asp22Glu Polymorphism rs4795087 -
C17orf53 Q8N3J3 VAR_032393 p.Thr126Pro Polymorphism rs227584 -
C17orf57 Q8IY85 VAR_031228 p.Val312Ile Polymorphism rs4968318 -
C17orf57 Q8IY85 VAR_031229 p.Met617Val Polymorphism rs17855599 -
C17orf57 Q8IY85 VAR_035465 p.Gln286His Unclassified - A breast cancer sample
C17orf57 Q8IY85 VAR_061091 p.Ile279Val Polymorphism rs55853213 -
C17orf58 Q2M2W7 VAR_030902 p.Ile92Val Polymorphism rs9891146 -
C17orf63 Q8WU58 VAR_050900 p.Leu471Ser Polymorphism rs2043031 -
C17orf63 Q8WU58 VAR_050901 p.Gly542Ser Polymorphism rs36029715 -
C17orf65 Q495Z4 VAR_032127 p.Ser32Arg Polymorphism rs7217858 -
C17orf65 Q495Z4 VAR_061623 p.Cys114Arg Polymorphism rs7212573 -
C17orf66 A2RTY3 VAR_032281 p.Ser480Phe Polymorphism rs2306630 -
C17orf66 A2RTY3 VAR_035685 p.Ile330Met Unclassified - A breast cancer sample
C17orf69 Q96LR1 VAR_032284 p.Tyr132Cys Polymorphism rs393152 -
C17orf74 Q0P670 VAR_032145 p.Ser108Ala Polymorphism rs13290 -
C17orf74 Q0P670 VAR_032146 p.Gln376Arg Polymorphism rs3892554 -
C17orf76- Q8N1F1 VAR_032120 p.Tyr36Cys Polymorphism rs35517418 -
C17orf76- Q8N1F1 VAR_032121 p.Ser78Thr Polymorphism rs35752829 -
C17orf77 Q96MU5 VAR_029628 p.Arg47Ser Polymorphism rs493430 -
C17orf78 Q8N4C9 VAR_034877 p.Thr152Ser Polymorphism rs1714987 -
C17orf80 Q9BSJ5 VAR_031779 p.Gly226Ser Polymorphism rs9902726 -
C17orf80 Q9BSJ5 VAR_031780 p.Lys322Gln Polymorphism rs34784472 -
C17orf80 Q9BSJ5 VAR_031781 p.Phe356Leu Polymorphism rs745143 -
C17orf80 Q9BSJ5 VAR_031782 p.His395Asn Polymorphism rs904384 -
C17orf80 Q9BSJ5 VAR_031783 p.Cys396Arg Polymorphism rs904383 -
C17orf80 Q9BSJ5 VAR_031784 p.Gln420His Polymorphism rs745142 -
C17orf80 Q9BSJ5 VAR_031785 p.Ala522Thr Polymorphism rs1566286 -
C17orf82 Q86X59 VAR_031769 p.Leu186Pro Polymorphism rs9907379 -
C17orf97 Q6ZQX7 VAR_044008 p.Glu56Lys Polymorphism rs4581766 -
C17orf97 Q6ZQX7 VAR_044009 p.Asp220Glu Polymorphism rs35229416 -
C17orf98 A8MV24 VAR_044022 p.Pro61Leu Polymorphism rs7210156 -
C18orf18 Q96FQ7 VAR_050902 p.Pro16Ala Polymorphism rs7242964 -
C18orf21 Q32NC0 VAR_030903 p.Thr132Ala Polymorphism rs2276314 -
C18orf26 Q8N1N2 VAR_033751 p.Val38Ala Polymorphism rs35428499 -
C18orf26 Q8N1N2 VAR_033752 p.Thr189Pro Polymorphism rs9947055 -
C18orf32 Q8TCD1 VAR_039374 p.Pro37His Polymorphism rs11537626 -
C18orf34 Q5BJE1 VAR_047010 p.Ala42Thr Polymorphism rs12606658 -
C18orf34 Q5BJE1 VAR_047011 p.Val465Glu Polymorphism rs9965081 -
C18orf34 Q5BJE1 VAR_047012 p.Leu600Arg Polymorphism rs457896 -
C18orf34 Q5BJE1 VAR_047013 p.Asp601Asn Polymorphism rs466113 -
C18orf34 Q5BJE1 VAR_061624 p.Asp420Asn Polymorphism rs58448816 -
C18orf45 Q24JQ0 VAR_035406 p.Leu131Phe Polymorphism rs8099409 -
C18orf54 Q8IYD9 VAR_050903 p.Arg147Pro Polymorphism rs1657907 -
C18orf54 Q8IYD9 VAR_050904 p.Cys196Phe Polymorphism rs16958096 -
C18orf56 Q8TAI1 VAR_032162 p.Arg62Gly Polymorphism rs2853533 -
C19orf10 Q969H8 VAR_060183 p.Gly12Arg Polymorphism rs2270090 -
C19orf12 Q9NSK7 VAR_066617 p.Thr11Met Disease - Neurodegeneration with brain iron accumulation type 4 (NBIA4) [MIM:614298]
C19orf12 Q9NSK7 VAR_066618 p.Gly53Arg Disease - Neurodegeneration with brain iron accumulation type 4 (NBIA4) [MIM:614298]
C19orf12 Q9NSK7 VAR_066619 p.Gly65Glu Disease - Neurodegeneration with brain iron accumulation type 4 (NBIA4) [MIM:614298]
C19orf12 Q9NSK7 VAR_066620 p.Gly69Arg Disease - Neurodegeneration with brain iron accumulation type 4 (NBIA4) [MIM:614298]
C19orf12 Q9NSK7 VAR_066621 p.Lys142Glu Disease rs146170087 Neurodegeneration with brain iron accumulation type 4 (NBIA4) [MIM:614298]
C19orf12 Q9NSK7 VAR_066622 p.Lys142Thr Polymorphism rs79915936 -
C19orf18 Q8NEA5 VAR_050909 p.His208Tyr Polymorphism rs8110831 -
C19orf21 Q8IVT2 VAR_033754 p.Ser156Gly Polymorphism rs3746173 -
C19orf21 Q8IVT2 VAR_033755 p.Lys232Arg Polymorphism rs3746175 -
C19orf21 Q8IVT2 VAR_033756 p.Glu653Gly Polymorphism rs8107847 -
C19orf21 Q8IVT2 VAR_050910 p.Ser269Asn Polymorphism rs35384259 -
C19orf21 Q8IVT2 VAR_061629 p.Ala99Thr Polymorphism rs45477999 -
C19orf45 Q8NA69 VAR_034664 p.Asp256Gly Polymorphism rs484870 -
C19orf45 Q8NA69 VAR_034665 p.Tyr396Asn Polymorphism rs3826736 -
C19orf45 Q8NA69 VAR_034666 p.Tyr434Asn Polymorphism rs475923 -
C19orf45 Q8NA69 VAR_034667 p.Pro497Ser Polymorphism rs1133378 -
C19orf45 Q8NA69 VAR_034668 p.Leu500Pro Polymorphism rs608144 -
C19orf46 Q8N205 VAR_035284 p.Ser224Leu Polymorphism rs34818970 -
C19orf46 Q8N205 VAR_035285 p.Gln278His Polymorphism rs2285422 -
C19orf48 Q6RUI8 VAR_029852 p.Val7Ile Polymorphism rs7251816 -
C19orf48 Q6RUI8 VAR_029853 p.Arg84Cys Polymorphism rs4802741 -
C19orf48 Q6RUI8 VAR_029854 p.Gly104Glu Polymorphism rs4801853 -
C19orf50 Q9BQD3 VAR_033282 p.Pro157Ala Polymorphism rs7648 -
C19orf51 Q8N9W5 VAR_055306 p.Glu292Gly Polymorphism rs2365725 -
C19orf51 Q8N9W5 VAR_055307 p.Gly331Trp Polymorphism rs7508641 -
C19orf51 Q8N9W5 VAR_055308 p.Asp365Asn Polymorphism rs890872 -
C19orf53 Q9UNZ5 VAR_053783 p.Lys39Arg Polymorphism rs10104 -
C19orf55 Q2NL68 VAR_056845 p.Ser302Arg Polymorphism rs231219 -
C19orf55 Q2NL68 VAR_061631 p.Lys365Asn Polymorphism rs231217 -
C19orf56 Q9Y284 VAR_052498 p.Pro104Ala Polymorphism rs3209404 -
C19orf57 Q0VDD7 VAR_033356 p.Gly267Arg Polymorphism rs2305775 -
C19orf57 Q0VDD7 VAR_033357 p.Gln500Arg Polymorphism rs3803892 -
C19orf71 A6NCJ1 VAR_061253 p.Pro83Leu Polymorphism rs12608919 -
C19orf71 A6NCJ1 VAR_061254 p.Ala137Val Polymorphism rs6510758 -
C19orf73 Q9NVV2 VAR_046164 p.Ser106Gly Polymorphism rs2232003 -
C19orf80 Q6UXH0 VAR_039046 p.Arg59Trp Polymorphism rs2278426 -
C19orf80 Q6UXH0 VAR_039047 p.Arg147Gln Polymorphism rs34056604 -
C1D Q13901 VAR_053990 p.Ser127Pro Polymorphism rs10444 -
C1GALT1C1 Q96EU7 VAR_031910 p.Asp131Glu Polymorphism rs17261572 -
C1GALT1C1 Q96EU7 VAR_031911 p.Glu152Lys Disease - Tn syndrome (TNSYN) [MIM:300622]
C1orf101 Q5SY80 VAR_027661 p.Thr66Lys Polymorphism rs11586356 -
C1orf101 Q5SY80 VAR_035494 p.Thr653Ile Unclassified - A breast cancer sample
C1orf101 Q5SY80 VAR_061566 p.Thr56Ser Polymorphism rs58602830 -
C1orf105 O95561 VAR_027710 p.Met97Val Polymorphism rs16844498 -
C1orf105 O95561 VAR_027711 p.Ser137Asn Polymorphism rs1129942 -
C1orf106 Q3KP66 VAR_030835 p.Arg538Cys Polymorphism rs296520 -
C1orf111 Q5T0L3 VAR_030904 p.Ala69Val Polymorphism rs164181 -
C1orf111 Q5T0L3 VAR_030905 p.Arg217His Polymorphism rs17853130 -
C1orf112 Q9NSG2 VAR_030906 p.Ala481Ser Polymorphism rs2272920 -
C1orf114 Q5TID7 VAR_030907 p.Phe172Ser Polymorphism rs3820059 -
C1orf114 Q5TID7 VAR_056764 p.Phe238Ile Polymorphism rs35107735 -
C1orf114 Q5TID7 VAR_056765 p.Ser323Cys Polymorphism rs35287513 -
C1orf124 Q9H040 VAR_037556 p.Pro296Leu Polymorphism rs2437150 -
C1orf127 Q8N9H9 VAR_031750 p.Ala530Val Polymorphism rs1281018 -
C1orf127 Q8N9H9 VAR_056766 p.Arg256Gln Polymorphism rs1281012 -
C1orf127 Q8N9H9 VAR_056767 p.Val366Asp Polymorphism rs1281016 -
C1orf129 Q5TGP6 VAR_031903 p.Asn29Ser Polymorphism rs17563089 -
C1orf129 Q5TGP6 VAR_031904 p.Val74Ala Polymorphism rs2294740 -
C1orf129 Q5TGP6 VAR_031905 p.Tyr160His Polymorphism rs16863872 -
C1orf131 Q8NDD1 VAR_031906 p.Leu28Val Polymorphism rs2274067 -
C1orf133 Q5TG53 VAR_046125 p.Arg91Gln Polymorphism rs624270 -
C1orf135 Q9H7T9 VAR_031776 p.Lys82Thr Polymorphism rs34449716 -
C1orf141 Q5JVX7 VAR_033186 p.Glu85Gly Polymorphism rs2273682 -
C1orf141 Q5JVX7 VAR_033187 p.Val189Ile Polymorphism rs11208997 -
C1orf147 Q96MC9 VAR_027074 p.Gly213Ala Polymorphism rs2336940 -
C1orf147 Q96MC9 VAR_027075 p.Pro233Ser Polymorphism rs11118256 -
C1orf147 Q96MC9 VAR_027076 p.Thr259Met Polymorphism rs17024805 -
C1orf158 Q8N1D5 VAR_027091 p.Phe191Leu Polymorphism rs1132185 -
C1orf162 Q8NEQ5 VAR_035106 p.Gly3Ser Polymorphism rs6703267 -
C1orf167 Q5SNV9 VAR_035266 p.Pro453Ser Polymorphism rs6668699 -
C1orf167 Q5SNV9 VAR_035267 p.Arg544Gln Polymorphism rs4845880 -
C1orf167 Q5SNV9 VAR_035268 p.Arg602Trp Polymorphism rs6667720 -
C1orf167 Q5SNV9 VAR_035269 p.Trp782Arg Polymorphism rs6699881 -
C1orf167 Q5SNV9 VAR_035270 p.Arg800Cys Polymorphism rs7538516 -
C1orf167 Q5SNV9 VAR_035271 p.Ser848Ile Polymorphism rs6697244 -
C1orf167 Q5SNV9 VAR_035272 p.Arg944His Polymorphism rs4846043 -
C1orf167 Q5SNV9 VAR_035273 p.Trp955Arg Polymorphism rs4846044 -
C1orf167 Q5SNV9 VAR_035274 p.Arg1215His Polymorphism rs3737967 -
C1orf167 Q5SNV9 VAR_035275 p.Cys1295Ser Polymorphism rs1537514 -
C1orf167 Q5SNV9 VAR_035276 p.Arg1451Gly Polymorphism rs868014 -
C1orf168 Q5VWT5 VAR_035041 p.Ile125Met Polymorphism rs17114336 -
C1orf170 Q5SV97 VAR_034837 p.Trp20Arg Polymorphism rs6660139 -
C1orf172 Q8NAX2 VAR_032561 p.Gln100Arg Polymorphism rs17360994 -
C1orf172 Q8NAX2 VAR_032562 p.Arg107Trp Polymorphism rs3010109 -
C1orf172 Q8NAX2 VAR_032563 p.Lys189Arg Polymorphism rs34291506 -
C1orf172 Q8NAX2 VAR_035616 p.Arg312His Unclassified - A colorectal cancer sample
C1orf173 Q5RHP9 VAR_035131 p.Pro264Ala Polymorphism rs11210490 -
C1orf173 Q5RHP9 VAR_035132 p.Arg555His Polymorphism rs696698 -
C1orf173 Q5RHP9 VAR_035133 p.Ile636Val Polymorphism rs17095653 -
C1orf173 Q5RHP9 VAR_035134 p.His691Arg Polymorphism rs2305549 -
C1orf173 Q5RHP9 VAR_035135 p.Leu1056Val Polymorphism rs11580409 -
C1orf173 Q5RHP9 VAR_035136 p.Val1528Met Polymorphism rs9326116 -
C1orf174 Q8IYL3 VAR_033152 p.Thr53Arg Polymorphism rs4274008 -
C1orf174 Q8IYL3 VAR_033153 p.Ala101Ser Polymorphism rs10909820 -
C1orf174 Q8IYL3 VAR_057829 p.Pro165Ala Polymorphism rs12036962 -
C1orf177 Q3ZCV2 VAR_034645 p.Gly126Cys Polymorphism rs9782980 -
C1orf177 Q3ZCV2 VAR_054410 p.Tyr205His Polymorphism rs600499 -
C1orf180 Q8NAE3 VAR_029856 p.Phe96Val Polymorphism rs4551616 -
C1orf182 Q96A04 VAR_061567 p.Ser54Leu Polymorphism rs41265043 -
C1orf187 Q8NBI3 VAR_030114 p.Leu37Phe Polymorphism rs11121804 -
C1orf198 Q9H425 VAR_050707 p.Ala274Ser Polymorphism rs34864456 -
C1orf198 Q9H425 VAR_050708 p.Lys306Arg Polymorphism rs35115679 -
C1orf201 Q5TH74 VAR_035614 p.Ser254Phe Unclassified - A breast cancer sample
C1orf210 Q8IVY1 VAR_033655 p.Ser12Leu Polymorphism rs35465732 -
C1orf220 Q5T0J3 VAR_056768 p.Pro3Leu Polymorphism rs12568310 -
C1orf227 Q537H7 VAR_060195 p.Ile8Thr Polymorphism rs10864004 -
C1orf49 Q5T0J7 VAR_027656 p.Glu55Gly Polymorphism rs16852957 -
C1orf49 Q5T0J7 VAR_027657 p.Ala146Gly Polymorphism rs12079481 -
C1orf49 Q5T0J7 VAR_027658 p.Leu171Arg Polymorphism rs3813636 -
C1orf49 Q5T0J7 VAR_059592 p.Leu171Pro Polymorphism rs3813636 -
C1orf50 Q9BV19 VAR_054409 p.Thr178Met Polymorphism rs11548275 -
C1orf55 Q6IQ49 VAR_032068 p.Met312Ile Polymorphism rs34348128 -
C1orf63 Q9BUV0 VAR_034655 p.Tyr147His Polymorphism rs34619962 -
C1orf63 Q9BUV0 VAR_034656 p.Glu239Gly Polymorphism rs1043879 -
C1orf64 Q8NEQ6 VAR_033654 p.Leu112Phe Polymorphism rs34950166 -
C1orf64 Q8NEQ6 VAR_035491 p.Gly52Trp Unclassified - A breast cancer sample
C1orf64 Q8NEQ6 VAR_035492 p.Gly100Trp Unclassified - A breast cancer sample
C1orf65 Q8N715 VAR_027066 p.Val195Ala Polymorphism rs6689850 -
C1orf65 Q8N715 VAR_027067 p.Gly329Asp Polymorphism rs10907376 -
C1orf65 Q8N715 VAR_027068 p.Arg331Trp Polymorphism rs6682552 -
C1orf65 Q8N715 VAR_027069 p.Arg380Leu Polymorphism rs17852896 -
C1orf74 Q96LT6 VAR_050701 p.Leu146Phe Polymorphism rs7550857 -
C1orf85 Q8WWB7 VAR_031742 p.Val94Ile Polymorphism rs1570805 -
C1orf85 Q8WWB7 VAR_031743 p.Pro203Ser Polymorphism rs10908496 -
C1orf85 Q8WWB7 VAR_031744 p.Ile223Val Polymorphism rs10908495 -
C1orf86 Q6NZ36 VAR_038434 p.Pro126Ser Polymorphism rs1058411 -
C1orf87 Q8N0U7 VAR_031745 p.Leu185Val Polymorphism rs12737449 -
C1orf87 Q8N0U7 VAR_031746 p.Asn301Asp Polymorphism rs17120025 -
C1orf87 Q8N0U7 VAR_031747 p.Lys403Glu Polymorphism rs626251 -
C1orf87 Q8N0U7 VAR_031748 p.Ala406Pro Polymorphism rs35260089 -
C1orf87 Q8N0U7 VAR_035493 p.Gln151Glu Unclassified - A breast cancer sample
C1orf94 Q6P1W5 VAR_031051 p.Gln235Glu Polymorphism rs1382602 -
C1orf94 Q6P1W5 VAR_031052 p.Asp302Glu Polymorphism rs1414474 -
C1orf94 Q6P1W5 VAR_050702 p.Tyr438His Polymorphism rs17556981 -
C1orf96 Q6IQ19 VAR_059594 p.Ala123Val Polymorphism rs6587326 -
C1QA P02745 VAR_021090 p.Glu23Lys Polymorphism rs17887074 -
C1QB P02746 VAR_008541 p.Gly42Asp Disease - Complement component C1q deficiency (C1QD) [MIM:613652]
C1QB P02746 VAR_035551 p.Ala123Thr Unclassified - A breast cancer sample
C1QC P02747 VAR_008542 p.Gly34Arg Disease - Complement component C1q deficiency (C1QD) [MIM:613652]
C1QTNF5 Q9BXJ0 VAR_032628 p.Gln44Arg Polymorphism rs11538245 -
C1QTNF5 Q9BXJ0 VAR_032629 p.Ser163Arg Disease - Late-onset retinal degeneration (LORD) [MIM:605670]
C1QTNF6 Q9BXI9 VAR_046624 p.Gly2Val Polymorphism rs229527 -
C1QTNF6 Q9BXI9 VAR_046625 p.Pro23Arg Polymorphism rs229526 -
C1QTNF6 Q9BXI9 VAR_046626 p.Gly36Asp Polymorphism rs7290488 -
C1QTNF6 Q9BXI9 VAR_046627 p.Pro119Leu Polymorphism rs17812699 -
C1QTNF6 Q9BXI9 VAR_046628 p.Arg207His Polymorphism rs17812681 -
C1QTNF9 P0C862 VAR_032840 p.Met219Val Polymorphism rs3751357 -
C1QTNF9 P0C862 VAR_032841 p.Val301Met Polymorphism rs4589405 -
C1QTNF9 P0C862 VAR_059148 p.Leu6Phe Polymorphism rs1974332 -
C1R P00736 VAR_016103 p.Ser152Leu Polymorphism rs1801046 -
C1R P00736 VAR_018667 p.Tyr131His Polymorphism - -
C1R P00736 VAR_018668 p.His163Tyr Polymorphism - -
C1R P00736 VAR_018669 p.Glu184Lys Polymorphism rs1126605 -
C1R P00736 VAR_018670 p.Gly261Arg Polymorphism rs3813728 -
C1R P00736 VAR_047933 p.Thr186Arg Polymorphism rs4519167 -
C1RL Q9NZP8 VAR_038852 p.Ile285Val Polymorphism rs3742089 -
C1S P09871 VAR_014565 p.Arg383His Polymorphism rs20573 -
C1S P09871 VAR_033643 p.Arg119His Polymorphism rs12146727 -
C1S P09871 VAR_033644 p.Val327Leu Polymorphism rs2239170 -
C2 P06681 VAR_008544 p.Cys131Tyr Disease - Complement component 2 deficiency (C2D) [MIM:217000]
C2 P06681 VAR_008545 p.Ser209Phe Disease rs28934590 Complement component 2 deficiency (C2D) [MIM:217000]
C2 P06681 VAR_008546 p.Gly464Arg Disease - Complement component 2 deficiency (C2D) [MIM:217000]
C2 P06681 VAR_011772 p.Phe533Leu Polymorphism rs1042664 -
C2 P06681 VAR_019158 p.Glu318Asp Polymorphism rs9332739 -
C2 P06681 VAR_019159 p.Arg734Cys Polymorphism rs4151648 -
C20orf111 Q9NX31 VAR_024333 p.Val74Gly Polymorphism rs9346 -
C20orf118 A0PJX2 VAR_050439 p.Gly102Arg Polymorphism rs3748460 -
C20orf123 Q9BR26 VAR_050919 p.Pro565Ser Polymorphism rs847079 -
C20orf144 Q9BQM9 VAR_050921 p.Gln62Arg Polymorphism rs7260921 -
C20orf151 Q8NC74 VAR_056849 p.Asp348Asn Polymorphism rs3810553 -
C20orf151 Q8NC74 VAR_056850 p.Ala408Thr Polymorphism rs10888228 -
C20orf151 Q8NC74 VAR_056851 p.Glu607Lys Polymorphism rs6089366 -
C20orf151 Q8NC74 VAR_056852 p.Leu637Arg Polymorphism rs2236200 -
C20orf152 Q96M20 VAR_056853 p.Arg37His Polymorphism rs17347958 -
C20orf152 Q96M20 VAR_056854 p.Thr208Ala Polymorphism rs6142471 -
C20orf152 Q96M20 VAR_056855 p.Pro375Ser Polymorphism rs6060750 -
C20orf166 Q96NR2 VAR_036898 p.Ile121Val Polymorphism rs3934574 -
C20orf166 Q9H1L0 VAR_019655 p.Val27Ala Polymorphism rs6062251 -
C20orf173 Q96LM9 VAR_024334 p.Lys141Glu Polymorphism rs7261862 -
C20orf177 Q9NTX9 VAR_035691 p.Ser95Gly Unclassified - A breast cancer sample
C20orf177 Q9NTX9 VAR_050922 p.Tyr380Cys Polymorphism rs6027210 -
C20orf194 Q5TEA3 VAR_050923 p.Thr481Pro Polymorphism rs16988463 -
C20orf194 Q5TEA3 VAR_050924 p.Arg577Gly Polymorphism rs2422864 -
C20orf194 Q5TEA3 VAR_059637 p.Thr86Met Polymorphism rs8124486 -
C20orf194 Q5TEA3 VAR_065913 p.Phe265Leu Polymorphism rs149767043 -
C20orf196 Q8IYI0 VAR_032144 p.Ala23Val Polymorphism rs237422 -
C20orf201 Q8TD35 VAR_042651 p.Gly9Trp Polymorphism rs4431000 -
C20orf26 Q8NHU2 VAR_027981 p.Pro74Arg Polymorphism rs17852602 -
C20orf26 Q8NHU2 VAR_027982 p.His254Arg Polymorphism rs6075614 -
C20orf26 Q8NHU2 VAR_027983 p.Val369Ile Polymorphism rs6081901 -
C20orf26 Q8NHU2 VAR_027984 p.Pro371Leu Polymorphism rs6075628 -
C20orf26 Q8NHU2 VAR_027985 p.Asp505Glu Polymorphism rs7344530 -
C20orf26 Q8NHU2 VAR_027986 p.Pro660Leu Polymorphism rs6081930 -
C20orf26 Q8NHU2 VAR_027987 p.Val671Ile Polymorphism rs6046740 -
C20orf4 Q9Y312 VAR_048127 p.Pro124Thr Polymorphism rs6121183 -
C20orf43 Q9BY42 VAR_028134 p.Thr159Ala Polymorphism rs6024909 -
C20orf43 Q9BY42 VAR_028135 p.Met171Val Polymorphism rs1059768 -
C20orf7 Q5TEU4 VAR_035376 p.Leu337Phe Polymorphism rs6042368 -
C20orf7 Q5TEU4 VAR_054119 p.Leu229Pro Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
C20orf72 Q9BQP7 VAR_033758 p.Ser15Cys Polymorphism rs11551768 -
C20orf79 Q9UJQ7 VAR_024332 p.Pro99Ser Polymorphism rs1053839 -
C20orf85 Q9H1P6 VAR_033759 p.Arg26His Polymorphism rs16984945 -
C20orf85 Q9H1P6 VAR_033760 p.Ile99Val Polymorphism rs17440813 -
C20orf85 Q9H1P6 VAR_061632 p.Arg34Gln Polymorphism rs45576936 -
C20orf94 Q5VYV7 VAR_035277 p.Arg317Gln Polymorphism rs6077853 -
C20orf96 Q9NUD7 VAR_056847 p.Ile305Phe Polymorphism rs3827147 -
C21orf128 Q8N2C9 VAR_017941 p.Val98Phe Polymorphism rs220111 -
C21orf2 O43822 VAR_016155 p.Thr150Ile Polymorphism rs2277809 -
C21orf2 O43822 VAR_050927 p.Gly153Ser Polymorphism rs9306099 -
C21orf33 P30042 VAR_020441 p.Leu248Val Polymorphism rs2838497 -
C21orf33 P30042 VAR_027920 p.Val6Ala Polymorphism rs968714 -
C21orf33 P30042 VAR_027921 p.Val148Met Polymorphism rs17264865 -
C21orf56 Q9H0A9 VAR_059639 p.Pro113Leu Polymorphism rs884134 -
C21orf56 Q9H0A9 VAR_059640 p.Ser298Asn Polymorphism rs14378 -
C21orf77 Q9NV44 VAR_018108 p.Glu2Gly Polymorphism rs928777 -
C22orf23 Q9BZE7 VAR_057346 p.Met136Leu Polymorphism rs35562630 -
C22orf24 Q9Y442 VAR_050934 p.His11Leu Polymorphism rs1984388 -
C22orf25 Q6ICL3 VAR_028742 p.Asp125Asn Polymorphism rs17855650 -
C22orf25 Q6ICL3 VAR_028743 p.Glu200Lys Polymorphism rs17854107 -
C22orf25 Q6ICL3 VAR_028744 p.Asp245Glu Polymorphism rs16982614 -
C22orf26 Q9NV39 VAR_061635 p.Pro28Leu Polymorphism rs12159707 -
C22orf26 Q9NV39 VAR_061636 p.Gln137Arg Polymorphism rs59929908 -
C22orf28 Q9Y3I0 VAR_028853 p.Leu343Phe Polymorphism rs17849275 -
C22orf28 Q9Y3I0 VAR_052485 p.Val153Ala Polymorphism rs11545747 -
C22orf29 Q7L3V2 VAR_034590 p.Arg116His Polymorphism rs17745302 -
C22orf29 Q7L3V2 VAR_034591 p.Asp123Tyr Polymorphism rs34027839 -
C22orf31 O95567 VAR_028808 p.Cys46Arg Polymorphism rs9625679 -
C22orf31 O95567 VAR_028809 p.Thr210Arg Polymorphism rs714136 -
C22orf32 Q9H4I9 VAR_034628 p.Arg46Gly Polymorphism rs17852210 -
C22orf40 Q6NVV7 VAR_044058 p.Val5Ala Polymorphism rs9627281 -
C22orf40 Q6NVV7 VAR_062237 p.Leu70Arg Polymorphism rs55641018 -
C22orf42 Q6IC83 VAR_045606 p.Leu73Pro Polymorphism rs5998267 -
C22orf42 Q6IC83 VAR_045607 p.Glu217Lys Polymorphism rs41344647 -
C22orf43 Q6PGQ1 VAR_039014 p.Ile4Thr Polymorphism rs3827318 -
C2CD2 Q9Y426 VAR_050928 p.Val211Ala Polymorphism rs2839421 -
C2CD2 Q9Y426 VAR_050929 p.Thr618Ala Polymorphism rs9981024 -
C2CD2L O14523 VAR_028797 p.Arg413Trp Polymorphism rs2239896 -
C2CD3 Q4AC94 VAR_037181 p.Pro773Arg Polymorphism rs34050666 -
C2CD3 Q4AC94 VAR_037182 p.Arg997Gln Polymorphism rs11235995 -
C2CD3 Q4AC94 VAR_037183 p.Arg1219Gln Polymorphism rs826058 -
C2CD3 Q4AC94 VAR_037184 p.Tyr1297Cys Polymorphism rs1095423 -
C2CD3 Q4AC94 VAR_037185 p.Ser1663Asn Polymorphism rs12419308 -
C2CD3 Q4AC94 VAR_037186 p.Gly1831Trp Polymorphism rs1632245 -
C2CD3 Q4AC94 VAR_037187 p.Arg1832Gly Polymorphism rs1632242 -
C2CD4B A6NLJ0 VAR_039696 p.Phe276Val Polymorphism rs8040712 -
C2CD4B A6NLJ0 VAR_039697 p.Asp346Glu Polymorphism rs1055090 -
C2orf16 Q68DN1 VAR_031313 p.Arg357Gly Polymorphism rs17006143 -
C2orf16 Q68DN1 VAR_031314 p.Asp505Val Polymorphism rs13410886 -
C2orf16 Q68DN1 VAR_031315 p.Thr655Ser Polymorphism rs1919125 -
C2orf16 Q68DN1 VAR_031316 p.Ala660Glu Polymorphism rs1919126 -
C2orf16 Q68DN1 VAR_031317 p.Val685Ala Polymorphism rs1919127 -
C2orf16 Q68DN1 VAR_031318 p.Ile767Thr Polymorphism rs13416968 -
C2orf16 Q68DN1 VAR_031319 p.Ile774Val Polymorphism rs1919128 -
C2orf16 Q68DN1 VAR_031320 p.Ser1500Phe Polymorphism rs12618071 -
C2orf16 Q68DN1 VAR_031321 p.His1559Tyr Polymorphism rs13392197 -
C2orf16 Q68DN1 VAR_031322 p.Asn1613Ser Polymorphism rs13031957 -
C2orf16 Q68DN1 VAR_031323 p.Ser1665Pro Polymorphism rs28381983 -
C2orf27A Q580R0 VAR_033657 p.Pro203Leu Polymorphism rs1056219 -
C2orf40 Q9H1Z8 VAR_050962 p.Ala52Thr Polymorphism rs10187689 -
C2orf42 Q9NWW7 VAR_050712 p.Gln314Pro Polymorphism rs3213941 -
C2orf44 Q9H6R7 VAR_034834 p.Thr102Met Polymorphism rs3731620 -
C2orf44 Q9H6R7 VAR_035876 p.Pro454Ser Unclassified - A breast cancer sample
C2orf47 Q8WWC4 VAR_034911 p.Leu290Ile Polymorphism rs2118548 -
C2orf48 Q96LS8 VAR_029619 p.Pro90Leu Polymorphism rs13406078 -
C2orf48 Q96LS8 VAR_050713 p.Trp119Ser Polymorphism rs7423163 -
C2orf49 Q9BVC5 VAR_029759 p.Gly185Asp Polymorphism rs28930676 -
C2orf53 Q53SZ7 VAR_037469 p.Arg194Gly Polymorphism rs17855664 -
C2orf53 Q53SZ7 VAR_037470 p.Arg222Cys Polymorphism rs3739097 -
C2orf54 Q08AI8 VAR_032419 p.Leu309Pro Polymorphism rs6707568 -
C2orf54 Q08AI8 VAR_050714 p.Ala170Thr Polymorphism rs4359646 -
C2orf55 Q6NV74 VAR_047335 p.Ser315Cys Polymorphism rs3731660 -
C2orf56 Q7L592 VAR_038274 p.Pro39Ala Polymorphism rs2714473 -
C2orf57 Q53QW1 VAR_036894 p.Val11Leu Polymorphism rs16828251 -
C2orf57 Q53QW1 VAR_036895 p.Gln79Arg Polymorphism rs16828254 -
C2orf57 Q53QW1 VAR_036896 p.Glu168Lys Polymorphism rs16828257 -
C2orf57 Q53QW1 VAR_036897 p.Ser261Pro Polymorphism rs10933378 -
C2orf61 Q8N801 VAR_050715 p.Leu17Met Polymorphism rs815804 -
C2orf61 Q8N801 VAR_050716 p.Gln31Arg Polymorphism rs17036300 -
C2orf63 Q8NHS4 VAR_039944 p.Ala178Val Polymorphism rs9677948 -
C2orf63 Q8NHS4 VAR_039945 p.Val426Ile Polymorphism rs6716066 -
C2orf63 Q8NHS4 VAR_039946 p.Ala503Val Polymorphism rs14026 -
C2orf63 Q8NHS4 VAR_039947 p.Asp552Tyr Polymorphism rs3186099 -
C2orf65 Q8TC57 VAR_046335 p.Arg5Gln Polymorphism rs3025980 -
C2orf65 Q8TC57 VAR_046336 p.Thr195Pro Polymorphism rs7602159 -
C2orf70 A6NJV1 VAR_042998 p.Gln66His Polymorphism rs13002673 -
C2orf70 A6NJV1 VAR_054056 p.Gln177Leu Polymorphism rs2272466 -
C2orf71 A6NGG8 VAR_042646 p.Ser13Cys Polymorphism rs10084168 -
C2orf71 A6NGG8 VAR_042647 p.Lys421Arg Polymorphism rs17007544 -
C2orf71 A6NGG8 VAR_042648 p.Thr580Met Polymorphism rs10166913 -
C2orf71 A6NGG8 VAR_042649 p.Leu792Val Polymorphism rs17744093 -
C2orf71 A6NGG8 VAR_042650 p.Pro1254Leu Polymorphism rs1975713 -
C2orf71 A6NGG8 VAR_063395 p.Ile201Phe Disease - Retinitis pigmentosa type 54 (RP54) [MIM:613428]
C2orf71 A6NGG8 VAR_063396 p.Pro867Leu Polymorphism - -
C2orf71 A6NGG8 VAR_065267 p.Glu227Lys Polymorphism - -
C2orf71 A6NGG8 VAR_065268 p.Val247Ala Polymorphism - -
C2orf71 A6NGG8 VAR_065269 p.Ala252Asp Polymorphism - -
C2orf71 A6NGG8 VAR_065270 p.Arg258Ile Polymorphism - -
C2orf71 A6NGG8 VAR_065271 p.Ser312Asn Polymorphism - -
C2orf71 A6NGG8 VAR_065272 p.Arg320Cys Polymorphism - -
C2orf71 A6NGG8 VAR_065273 p.Asp372Asn Disease - Retinitis pigmentosa type 54 (RP54) [MIM:613428]
C2orf71 A6NGG8 VAR_065274 p.Glu378Lys Polymorphism - -
C2orf71 A6NGG8 VAR_065275 p.Leu612Pro Disease - Retinitis pigmentosa type 54 (RP54) [MIM:613428]
C2orf71 A6NGG8 VAR_065276 p.Val615Asp Disease - Retinitis pigmentosa type 54 (RP54) [MIM:613428]
C2orf71 A6NGG8 VAR_065277 p.Ala628Thr Polymorphism - -
C2orf71 A6NGG8 VAR_065278 p.Ala648Pro Polymorphism - -
C2orf71 A6NGG8 VAR_065279 p.Cys688Tyr Polymorphism - -
C2orf71 A6NGG8 VAR_065280 p.Pro954Ser Polymorphism - -
C2orf71 A6NGG8 VAR_065281 p.Arg955Gln Polymorphism - -
C2orf71 A6NGG8 VAR_065282 p.Ala959Thr Polymorphism - -
C2orf71 A6NGG8 VAR_065283 p.Gln1020Arg Polymorphism - -
C2orf71 A6NGG8 VAR_065285 p.Ala1160Thr Polymorphism - -
C2orf71 A6NGG8 VAR_065286 p.Arg1177Gln Polymorphism - -
C2orf71 A6NGG8 VAR_065288 p.Gly1247Ser Polymorphism - -
C2orf73 Q8N5S3 VAR_042973 p.Pro254Leu Polymorphism rs2280718 -
C2orf73 Q8N5S3 VAR_042974 p.Arg275Thr Polymorphism rs13184 -
C2orf73 Q8N5S3 VAR_061571 p.His29Asn Polymorphism rs55714450 -
C2orf76 Q3KRA6 VAR_039931 p.Ile46Val Polymorphism rs6542522 -
C2orf76 Q3KRA6 VAR_039932 p.Lys116Arg Polymorphism rs1052500 -
C2orf80 Q0P641 VAR_050717 p.Arg82His Polymorphism rs11898181 -
C2orf80 Q0P641 VAR_050718 p.Cys130Arg Polymorphism rs6435421 -
C2orf80 Q0P641 VAR_050719 p.Ser152Gly Polymorphism rs10804166 -
C2orf83 Q53S99 VAR_039201 p.Glu104Gln Polymorphism rs2138402 -
C2orf83 Q53S99 VAR_061865 p.Ser45Leu Polymorphism rs28739019 -
C2orf84 Q86W67 VAR_046178 p.Tyr140Cys Polymorphism rs2288073 -
C2orf85 Q14D33 VAR_060791 p.Gly101Glu Polymorphism rs7420371 -
C2orf88 Q9BSF0 VAR_046151 p.Thr56Ile Polymorphism rs6753459 -
C2orf89 Q86V40 VAR_039920 p.Arg143His Polymorphism rs1863772 -
C2orf89 Q86V40 VAR_039921 p.Arg428Gln Polymorphism rs2288352 -
C2orf89 Q86V40 VAR_039922 p.Pro430Leu Polymorphism rs1649292 -
C3 P01024 VAR_001983 p.Arg102Gly Polymorphism rs2230199 -
C3 P01024 VAR_001984 p.Pro314Leu Polymorphism rs1047286 -
C3 P01024 VAR_001985 p.Asp549Asn Disease - Complement component 3 deficiency (C3D) [MIM:613779]
C3 P01024 VAR_001986 p.Arg1320Gln Disease - Complement component 3 deficiency (C3D) [MIM:613779]
C3 P01024 VAR_019206 p.Arg863Lys Polymorphism rs11569472 -
C3 P01024 VAR_019207 p.Gly1224Asp Polymorphism rs11569534 -
C3 P01024 VAR_019208 p.Ile1367Thr Polymorphism rs11569541 -
C3 P01024 VAR_020262 p.Glu469Asp Polymorphism rs11569422 -
C3 P01024 VAR_022761 p.Asp1216Asn Unclassified - -
C3 P01024 VAR_029326 p.Ser1619Arg Polymorphism rs2230210 -
C3 P01024 VAR_029792 p.Gln1521Arg Polymorphism rs7256789 -
C3 P01024 VAR_029793 p.His1601Asn Polymorphism rs1803225 -
C3 P01024 VAR_063213 p.Arg592Gln Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
C3 P01024 VAR_063214 p.Arg592Trp Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
C3 P01024 VAR_063215 p.Arg735Trp Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
C3 P01024 VAR_063216 p.Ala1094Val Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
C3 P01024 VAR_063217 p.Asp1115Asn Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
C3 P01024 VAR_063218 p.Cys1158Trp Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
C3 P01024 VAR_063219 p.Gln1161Lys Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
C3 P01024 VAR_063220 p.His1464Asp Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
C3 P01024 VAR_063654 p.Phe603Val Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
C3 P01024 VAR_063655 p.Arg1042Leu Disease - Hemolytic uremic syndrome atypical type 5 (AHUS5) [MIM:612925]
C3AR1 Q16581 VAR_019164 p.Val136Ala Polymorphism rs11567806 -
C3orf17 Q6NW34 VAR_025418 p.Glu101Lys Polymorphism rs2291465 -
C3orf17 Q6NW34 VAR_025419 p.Pro352Ser Polymorphism rs2306858 -
C3orf17 Q6NW34 VAR_025420 p.Phe357Ile Polymorphism rs2306857 -
C3orf17 Q6NW34 VAR_025421 p.Thr476Ala Polymorphism rs3732813 -
C3orf17 Q6NW34 VAR_025422 p.Ser490Pro Polymorphism rs7628368 -
C3orf18 Q9UK00 VAR_025720 p.Ala8Asp Polymorphism rs386598 -
C3orf18 Q9UK00 VAR_025721 p.Ala162Val Polymorphism rs1034405 -
C3orf19 Q6PII3 VAR_061573 p.Thr436Met Polymorphism rs60239620 -
C3orf20 Q8ND61 VAR_025722 p.Ala176Thr Polymorphism rs17040196 -
C3orf20 Q8ND61 VAR_027886 p.Gly42Asp Polymorphism rs17040154 -
C3orf20 Q8ND61 VAR_027887 p.Asp65Asn Polymorphism rs9821143 -
C3orf20 Q8ND61 VAR_027888 p.Ser230Tyr Polymorphism rs17852774 -
C3orf20 Q8ND61 VAR_027889 p.Ala298Thr Polymorphism rs17040196 -
C3orf20 Q8ND61 VAR_027890 p.Ile407Val Polymorphism rs6765537 -
C3orf20 Q8ND61 VAR_027891 p.Leu422Val Polymorphism rs6790129 -
C3orf20 Q8ND61 VAR_056770 p.Gln205Arg Polymorphism rs34230332 -
C3orf20 Q8ND61 VAR_056771 p.Ala689Val Polymorphism rs34045813 -
C3orf23 Q8N3R3 VAR_050720 p.His4Pro Polymorphism rs35830741 -
C3orf25 Q6NXP0 VAR_033697 p.Glu66Gly Polymorphism rs3774787 -
C3orf25 Q6NXP0 VAR_048667 p.Arg215Gly Polymorphism rs6790768 -
C3orf25 Q6NXP0 VAR_048668 p.Pro541Ser Polymorphism rs12637267 -
C3orf25 Q6NXP0 VAR_061089 p.Pro36Leu Polymorphism rs58932597 -
C3orf25 Q6NXP0 VAR_061090 p.His280Arg Polymorphism rs9836111 -
C3orf26 Q9BQ75 VAR_033658 p.Val166Ile Polymorphism rs11537816 -
C3orf26 Q9BQ75 VAR_047645 p.Glu138Gly Polymorphism rs11537817 -
C3orf30 Q96M34 VAR_028841 p.Asn45Thr Polymorphism rs4687838 -
C3orf30 Q96M34 VAR_028842 p.Asp99Gly Polymorphism rs11550908 -
C3orf30 Q96M34 VAR_028843 p.Gln193His Polymorphism rs9859242 -
C3orf30 Q96M34 VAR_028844 p.Gly312Ser Polymorphism rs4077930 -
C3orf30 Q96M34 VAR_028845 p.Asp473Glu Polymorphism rs9289122 -
C3orf30 Q96M34 VAR_061574 p.Ser447Leu Polymorphism rs56317615 -
C3orf32 Q9Y2M2 VAR_033659 p.Pro29Leu Polymorphism rs2276800 -
C3orf33 Q6P1S2 VAR_028846 p.Ala47Thr Polymorphism rs9853408 -
C3orf33 Q6P1S2 VAR_028847 p.Ser160Asn Polymorphism rs358733 -
C3orf43 Q147U7 VAR_050721 p.His20Tyr Polymorphism rs9869292 -
C3orf43 Q147U7 VAR_050722 p.Arg64Trp Polymorphism rs11926701 -
C3orf55 A1A4F0 VAR_050723 p.Val4Leu Polymorphism rs7616293 -
C3orf62 Q6ZUJ4 VAR_050724 p.Glu110Lys Polymorphism rs13077498 -
C3orf67 Q6ZVT6 VAR_056772 p.Ser158Arg Polymorphism rs13324082 -
C3orf67 Q6ZVT6 VAR_056773 p.Asp304Glu Polymorphism rs35778488 -
C3orf67 Q6ZVT6 VAR_061575 p.Val387Met Polymorphism rs34631714 -
C3orf67 Q6ZVT6 VAR_061576 p.Ser404Asn Polymorphism rs34322986 -
C3orf77 Q8N9V7 VAR_039224 p.Cys43Arg Polymorphism rs9833423 -
C3orf77 Q8N9V7 VAR_039225 p.Pro88Gln Polymorphism rs7645375 -
C3orf77 Q8N9V7 VAR_039226 p.Val196Ile Polymorphism rs9284879 -
C3orf77 Q8N9V7 VAR_039227 p.Gln483Arg Polymorphism rs17076541 -
C3orf77 Q8N9V7 VAR_039228 p.Pro673Ala Polymorphism rs17646517 -
C3orf77 Q8N9V7 VAR_039229 p.Lys796Glu Polymorphism rs17076545 -
C3orf77 Q8N9V7 VAR_039230 p.Gln1352Arg Polymorphism rs11921568 -
C3P1 Q6ZMU1 VAR_044412 p.Gln172Arg Polymorphism rs8113341 -
C3P1 Q6ZMU1 VAR_044413 p.Asp230Asn Polymorphism rs10403787 -
C3P1 Q6ZMU1 VAR_044414 p.Asp251Gly Polymorphism rs1993466 -
C3P1 Q6ZMU1 VAR_044415 p.Leu262Arg Polymorphism rs4552116 -
C4A P0C0L4 VAR_001987 p.Arg477Trp Polymorphism - -
C4A P0C0L4 VAR_001988 p.Pro726Leu Polymorphism rs2229408 -
C4A P0C0L4 VAR_001989 p.Asp1073Gly Polymorphism rs2258218 -
C4A P0C0L4 VAR_001991 p.Asn1176Ser Polymorphism rs2746414 -
C4A P0C0L4 VAR_001992 p.Ser1201Thr Polymorphism - -
C4A P0C0L4 VAR_001993 p.Val1207Ala Polymorphism rs2229403 -
C4A P0C0L4 VAR_001994 p.Leu1210Arg Polymorphism rs2229409 -
C4A P0C0L4 VAR_001995 p.Ser1286Ala Polymorphism rs9501603 -
C4A P0C0L4 VAR_019778 p.Ser347Tyr Polymorphism rs392610 -
C4A P0C0L4 VAR_019779 p.Asp727Asn Polymorphism - -
C4A P0C0L4 VAR_019780 p.Ala907Thr Polymorphism rs429329 -
C4B P0C0L5 VAR_023729 p.Ser347Tyr Polymorphism rs392610 -
C4B P0C0L5 VAR_023730 p.Ala907Thr Polymorphism rs429329 -
C4B P0C0L5 VAR_023731 p.Asp1073Gly Polymorphism rs2258218 -
C4B P0C0L5 VAR_023732 p.Asn1176Ser Polymorphism rs2746414 -
C4B P0C0L5 VAR_023733 p.Ser1201Thr Polymorphism - -
C4B P0C0L5 VAR_023734 p.Val1207Ala Polymorphism rs2229403 -
C4B P0C0L5 VAR_023735 p.Leu1210Arg Polymorphism rs2229409 -
C4B P0C0L5 VAR_023736 p.Ser1286Ala Polymorphism rs9501603 -
C4BPA P04003 VAR_001978 p.Tyr357His Polymorphism - -
C4BPA P04003 VAR_012038 p.Trp473Leu Polymorphism rs1801341 -
C4BPA P04003 VAR_024420 p.Ile300Thr Polymorphism rs4844573 -
C4BPA P04003 VAR_048815 p.Ala60Val Polymorphism rs17020956 -
C4BPA P04003 VAR_061123 p.Pro4Gln Polymorphism rs55867570 -
C4BPA P04003 VAR_061124 p.Arg240His Polymorphism rs45574833 -
C4BPB P20851 VAR_012039 p.Pro198Ser Polymorphism rs1803226 -
C4BPB P20851 VAR_038734 p.Lys102Gln Polymorphism rs56258224 -
C4orf17 Q53FE4 VAR_028110 p.Gly64Glu Polymorphism rs13143848 -
C4orf17 Q53FE4 VAR_028111 p.Ser85Pro Polymorphism rs13119384 -
C4orf17 Q53FE4 VAR_028112 p.Glu91Lys Polymorphism rs17029087 -
C4orf19 Q8IY42 VAR_032118 p.Ala151Thr Polymorphism rs2973275 -
C4orf19 Q8IY42 VAR_032119 p.Glu274Gly Polymorphism rs3733500 -
C4orf19 Q8IY42 VAR_050770 p.Asp39Glu Polymorphism rs6852908 -
C4orf21 Q86YA3 VAR_032147 p.Asn410Ser Polymorphism rs7696816 -
C4orf21 Q86YA3 VAR_032148 p.Gly451Glu Polymorphism rs17854334 -
C4orf21 Q86YA3 VAR_032149 p.Thr978Ile Polymorphism rs17669218 -
C4orf22 Q6V702 VAR_034913 p.Thr138Met Polymorphism rs11947742 -
C4orf22 Q6V702 VAR_034914 p.Val220Ile Polymorphism rs1052325 -
C4orf26 Q17RF5 VAR_034915 p.Pro30Leu Polymorphism rs2306175 -
C4orf26 Q17RF5 VAR_034916 p.Arg109His Polymorphism rs2306174 -
C4orf27 Q9NWY4 VAR_033183 p.Arg174Lys Polymorphism rs1047642 -
C4orf27 Q9NWY4 VAR_033184 p.Glu331Asp Polymorphism rs1047706 -
C4orf3 Q8WVX3 VAR_039911 p.Arg17Gln Polymorphism rs17851522 -
C4orf3 Q8WVX3 VAR_039912 p.Pro32His Polymorphism rs11544530 -
C4orf32 Q8N8J7 VAR_032150 p.Pro46Gln Polymorphism rs17852081 -
C4orf33 Q8N1A6 VAR_033334 p.Arg40Met Polymorphism rs35199409 -
C4orf33 Q8N1A6 VAR_033335 p.Ser104Leu Polymorphism rs2271570 -
C4orf33 Q8N1A6 VAR_033336 p.Met107Val Polymorphism rs337277 -
C4orf33 Q8N1A6 VAR_033337 p.His166Arg Polymorphism rs17351999 -
C4orf36 Q96KX1 VAR_029755 p.Ser36Tyr Polymorphism rs1550931 -
C4orf36 Q96KX1 VAR_056784 p.Ser18Asn Polymorphism rs11938345 -
C4orf37 Q8N412 VAR_037359 p.Cys111Trp Polymorphism rs13131259 -
C4orf37 Q8N412 VAR_037360 p.Phe112Val Polymorphism rs13131258 -
C4orf37 Q8N412 VAR_037361 p.Tyr125His Polymorphism rs17558193 -
C4orf37 Q8N412 VAR_037362 p.Ile178Val Polymorphism rs2903150 -
C4orf37 Q8N412 VAR_037363 p.Lys279Arg Polymorphism rs7654193 -
C4orf37 Q8N412 VAR_037364 p.Val420Ala Polymorphism rs17026871 -
C4orf39 Q96MZ4 VAR_044025 p.His54Arg Polymorphism rs3733418 -
C4orf40 Q6MZM9 VAR_043927 p.Ile44Leu Polymorphism rs1612460 -
C4orf40 Q6MZM9 VAR_043928 p.Arg91Cys Polymorphism rs1613461 -
C4orf42 Q0VAR9 VAR_038478 p.Ser19Gly Polymorphism rs1732115 -
C4orf42 Q0VAR9 VAR_038479 p.Tyr173Cys Polymorphism rs1564508 -
C4orf43 Q96EY4 VAR_039349 p.Gln65Pro Polymorphism rs2304802 -
C4orf43 Q96EY4 VAR_039350 p.Ile176Thr Polymorphism rs1561736 -
C4orf43 Q96EY4 VAR_054013 p.Arg12Gln Polymorphism rs34907234 -
C4orf45 Q96LM5 VAR_039901 p.Ala46Val Polymorphism rs17037864 -
C4orf45 Q96LM5 VAR_039902 p.Ser75Gly Polymorphism rs662473 -
C4orf45 Q96LM5 VAR_039903 p.Tyr84Cys Polymorphism rs17037858 -
C4orf45 Q96LM5 VAR_039904 p.Gly93Glu Polymorphism rs619128 -
C4orf45 Q96LM5 VAR_039905 p.Arg134His Polymorphism rs10517695 -
C4orf49 Q8TDB4 VAR_051256 p.Ala128Thr Polymorphism rs3208941 -
C4orf50 Q6ZRC1 VAR_042680 p.Arg86Trp Polymorphism rs16837960 -
C4orf50 Q6ZRC1 VAR_042681 p.Ala150Pro Unclassified - A breast cancer sample
C4orf50 Q6ZRC1 VAR_042682 p.Ile177Val Polymorphism rs6839295 -
C4orf50 Q6ZRC1 VAR_042683 p.Val199Met Polymorphism rs7695618 -
C4orf52 Q8N5G0 VAR_039965 p.Ala41Thr Polymorphism rs2305669 -
C4orf52 Q8N5G0 VAR_039966 p.Ser65Asn Polymorphism rs6448414 -
C4orf52 Q8N5G0 VAR_039967 p.His76Asn Polymorphism rs2305670 -
C4orf52 Q8N5G0 VAR_039968 p.Ala109Thr Polymorphism rs4521339 -
C4orf6 Q99440 VAR_024301 p.Asn15Lys Polymorphism rs886532 -
C5 P01031 VAR_001996 p.Phe518Ser Polymorphism - -
C5 P01031 VAR_014574 p.Val802Ile Polymorphism rs17611 -
C5 P01031 VAR_014575 p.Met1053Leu Polymorphism rs17609 -
C5 P01031 VAR_014576 p.Ser1310Asn Polymorphism rs17610 -
C5 P01031 VAR_014577 p.Glu1437Asp Polymorphism rs17612 -
C5 P01031 VAR_023946 p.Thr389Ile Polymorphism - -
C5 P01031 VAR_038735 p.Val145Ile Polymorphism rs17216529 -
C5 P01031 VAR_038736 p.Arg449Gly Polymorphism rs2230213 -
C5 P01031 VAR_038737 p.Arg928Gln Polymorphism rs41309892 -
C5 P01031 VAR_038738 p.Gly933Val Polymorphism rs41309902 -
C5 P01031 VAR_038739 p.Ile1033Thr Polymorphism rs41311881 -
C5 P01031 VAR_038740 p.Asp1037Asn Polymorphism rs41311883 -
C5 P01031 VAR_038741 p.Gln1043Lys Polymorphism rs41311887 -
C5 P01031 VAR_048822 p.Leu354Met Polymorphism rs34552775 -
C5 P01031 VAR_048823 p.Asp966Tyr Polymorphism rs2230212 -
C5 P01031 VAR_048824 p.Val1365Ala Polymorphism rs16910245 -
C5AR1 P21730 VAR_049377 p.Asp2Asn Polymorphism rs4467185 -
C5AR1 P21730 VAR_049378 p.Lys279Asn Polymorphism rs11880097 -
C5orf13 Q16612 VAR_051238 p.Glu43Gly Polymorphism rs11559 -
C5orf22 Q49AR2 VAR_035149 p.Thr235Pro Polymorphism rs17410000 -
C5orf22 Q49AR2 VAR_035150 p.Asp405Glu Polymorphism rs16901277 -
C5orf25 Q8NDZ2 VAR_027568 p.Ser221Phe Polymorphism rs2001605 -
C5orf25 Q8NDZ2 VAR_027569 p.Lys463Arg Polymorphism rs17857141 -
C5orf25 Q8NDZ2 VAR_027570 p.His772Arg Polymorphism rs17853733 -
C5orf25 Q8NDZ2 VAR_059603 p.Ser636Phe Polymorphism rs2001605 -
C5orf27 Q52M75 VAR_035138 p.Arg85Cys Polymorphism rs17366761 -
C5orf32 Q9H1C7 VAR_034629 p.Cys90Ser Polymorphism rs17852164 -
C5orf34 Q96MH7 VAR_035618 p.Ser266Arg Unclassified - A breast cancer sample
C5orf34 Q96MH7 VAR_061589 p.Thr32Ser Polymorphism rs6872851 -
C5orf35 Q8NE22 VAR_034875 p.Ser76Thr Polymorphism rs2257505 -
C5orf35 Q8NE22 VAR_034876 p.Lys209Glu Polymorphism rs40497 -
C5orf4 Q96IV6 VAR_048900 p.Arg133His Polymorphism rs17641488 -
C5orf41 Q8IUR6 VAR_034795 p.Thr483Ala Polymorphism rs17854147 -
C5orf42 Q9H799 VAR_042948 p.Ile318Thr Polymorphism rs6859950 -
C5orf42 Q9H799 VAR_042949 p.Phe913Cys Polymorphism rs10076911 -
C5orf42 Q9H799 VAR_042950 p.Ile1023Val Polymorphism rs6884652 -
C5orf42 Q9H799 VAR_042951 p.Pro1472Leu Polymorphism rs16903518 -
C5orf42 Q9H799 VAR_042952 p.Gly1960Arg Polymorphism rs7702892 -
C5orf43 Q7Z3B0 VAR_039986 p.Leu23Phe Polymorphism rs4546328 -
C5orf45 Q6NTE8 VAR_039990 p.Gln97Arg Polymorphism rs1650893 -
C5orf45 Q6NTE8 VAR_039991 p.Arg154Gly Polymorphism rs248248 -
C5orf45 Q6NTE8 VAR_039992 p.Gln231Arg Polymorphism rs10277 -
C5orf45 Q6NTE8 VAR_054030 p.Gln42Arg Polymorphism rs1650893 -
C5orf46 Q6UWT4 VAR_056787 p.Phe18Ile Polymorphism rs7722926 -
C5orf49 A4QMS7 VAR_043546 p.Gln68His Polymorphism rs6883562 -
C5orf49 A4QMS7 VAR_043547 p.Glu87Lys Polymorphism rs16879215 -
C5orf49 A4QMS7 VAR_043548 p.Pro139Ser Polymorphism rs326181 -
C5orf50 A6NLE4 VAR_057736 p.Thr36Met Polymorphism rs10037031 -
C5orf51 A6NDU8 VAR_044032 p.Gln20His Polymorphism rs12520325 -
C5orf54 Q8IZ13 VAR_046179 p.Ala523Ser Polymorphism rs10515808 -
C5orf55 Q8N2X6 VAR_046197 p.Pro50Ser Polymorphism rs10035653 -
C5orf55 Q8N2X6 VAR_046198 p.Arg118Gly Polymorphism rs10035612 -
C5orf60 A6NFR6 VAR_044323 p.Arg55Cys Polymorphism rs1319931 -
C5orf60 A6NFR6 VAR_044324 p.Leu56Pro Polymorphism rs13168357 -
C5orf64 Q2M2E5 VAR_043940 p.Ala57Thr Polymorphism rs16893687 -
C5orf64 Q2M2E5 VAR_043941 p.Arg101Trp Polymorphism rs436696 -
C6 P13671 VAR_006056 p.Ala119Glu Polymorphism rs1801033 -
C6 P13671 VAR_027647 p.Lys397Glu Polymorphism rs6896011 -
C6 P13671 VAR_027648 p.Ser470Phe Polymorphism rs10462014 -
C6orf1 Q86T20 VAR_056792 p.Met141Ile Polymorphism rs34410712 -
C6orf1 Q86T20 VAR_060383 p.Gly150Ala Polymorphism rs1150781 -
C6orf10 Q5SRN2 VAR_022875 p.Cys30Arg Polymorphism rs3129941 -
C6orf10 Q5SRN2 VAR_022876 p.Tyr36His Polymorphism rs9268384 -
C6orf10 Q5SRN2 VAR_022877 p.Tyr69Cys Polymorphism rs9268368 -
C6orf10 Q5SRN2 VAR_022878 p.Pro128Leu Polymorphism rs1033500 -
C6orf10 Q5SRN2 VAR_022879 p.Ile150Phe Polymorphism rs1265754 -
C6orf10 Q5SRN2 VAR_022880 p.Ser170Pro Polymorphism rs9405090 -
C6orf10 Q5SRN2 VAR_022881 p.Ser227Pro Polymorphism rs560505 -
C6orf10 Q5SRN2 VAR_022882 p.Ile315Val Polymorphism rs3749966 -
C6orf10 Q5SRN2 VAR_022883 p.Lys400Gln Polymorphism rs7775397 -
C6orf10 Q5SRN2 VAR_033068 p.Pro161Leu Polymorphism rs1003878 -
C6orf10 Q5SRN2 VAR_056793 p.Leu266Trp Polymorphism rs4947338 -
C6orf10 Q5SRN2 VAR_056794 p.Pro274Ser Polymorphism rs34498363 -
C6orf10 Q5SRN2 VAR_056795 p.Ala433Thr Polymorphism rs16870005 -
C6orf10 Q5SRN2 VAR_056796 p.Gly479Val Polymorphism rs7751028 -
C6orf100 Q5JQF7 VAR_036902 p.Gly41Glu Polymorphism rs2071790 -
C6orf103 Q8N7X0 VAR_025948 p.Ile310Thr Polymorphism rs9497606 -
C6orf103 Q8N7X0 VAR_063158 p.Thr1637Ala Polymorphism rs1052445 -
C6orf118 Q5T5N4 VAR_022887 p.Ile256Met Polymorphism rs510579 -
C6orf118 Q5T5N4 VAR_022888 p.Val363Leu Polymorphism rs9459350 -
C6orf118 Q5T5N4 VAR_050807 p.Arg166Leu Polymorphism rs36007498 -
C6orf118 Q5T5N4 VAR_050808 p.Gly271Glu Polymorphism rs17852379 -
C6orf118 Q5T5N4 VAR_050809 p.Thr301Met Polymorphism rs540751 -
C6orf118 Q5T5N4 VAR_050810 p.Arg385Gln Polymorphism rs17856754 -
C6orf127 A2RUU4 VAR_043560 p.Phe15Ser Polymorphism rs34109614 -
C6orf132 Q5T0Z8 VAR_056799 p.Lys4Asn Polymorphism rs9688934 -
C6orf141 Q5SZD1 VAR_022939 p.Gln137Glu Polymorphism rs6919674 -
C6orf141 Q5SZD1 VAR_030643 p.Pro235Leu Polymorphism rs9473588 -
C6orf146 Q8IXS0 VAR_023207 p.Val431Ile Polymorphism rs595413 -
C6orf146 Q8IXS0 VAR_056801 p.Ala258Thr Polymorphism rs639905 -
C6orf146 Q8IXS0 VAR_056802 p.Gln309Pro Polymorphism rs10080405 -
C6orf146 Q8IXS0 VAR_056803 p.Cys360Ser Polymorphism rs17137618 -
C6orf146 Q8IXS0 VAR_056804 p.Met442Val Polymorphism rs10485172 -
C6orf15 Q6UXA7 VAR_022907 p.Leu40Phe Polymorphism rs2233974 -
C6orf15 Q6UXA7 VAR_022908 p.Asn43Asp Polymorphism rs2233975 -
C6orf15 Q6UXA7 VAR_022909 p.Ala83Pro Polymorphism rs1265053 -
C6orf15 Q6UXA7 VAR_022910 p.Lys165Glu Polymorphism rs1265054 -
C6orf15 Q6UXA7 VAR_028732 p.Val81Ala Polymorphism rs2233977 -
C6orf15 Q6UXA7 VAR_028733 p.Ala145Pro Polymorphism rs2233978 -
C6orf15 Q6UXA7 VAR_028734 p.Gly291Asp Polymorphism rs2233984 -
C6orf15 Q6UXA7 VAR_050801 p.Gly48Arg Polymorphism rs2233976 -
C6orf15 Q6UXA7 VAR_050802 p.Met232Ile Polymorphism rs2233982 -
C6orf15 Q6UXA7 VAR_054399 p.Val5Met Polymorphism rs2270191 -
C6orf165 Q8IYR0 VAR_033679 p.Arg154Lys Polymorphism rs13219364 -
C6orf165 Q8IYR0 VAR_033680 p.Gly170Ala Polymorphism rs16879281 -
C6orf186 Q5JXM2 VAR_044502 p.Leu281Phe Polymorphism rs2334321 -
C6orf191 Q5VVB8 VAR_026549 p.Phe80Leu Polymorphism rs4629709 -
C6orf191 Q5VVB8 VAR_026550 p.Glu86Gly Polymorphism rs9492393 -
C6orf191 Q5VVB8 VAR_026551 p.Phe111Val Polymorphism rs7776426 -
C6orf191 Q5VVB8 VAR_033681 p.Asn60Ile Polymorphism rs7760577 -
C6orf192 Q6NT16 VAR_033185 p.Val204Ile Polymorphism rs6926101 -
C6orf192 Q6NT16 VAR_061382 p.Arg11Leu Polymorphism rs59989552 -
C6orf192 Q6NT16 VAR_063260 p.Ser30Pro Polymorphism rs41286192 -
C6orf195 Q96MT4 VAR_050813 p.Ile2Phe Polymorphism rs17135340 -
C6orf195 Q96MT4 VAR_050814 p.Pro43Ser Polymorphism rs9503233 -
C6orf201 Q7Z4U5 VAR_056805 p.Arg20Pro Polymorphism rs619483 -
C6orf201 Q7Z4U5 VAR_056806 p.Asp25Tyr Polymorphism rs9503910 -
C6orf201 Q7Z4U5 VAR_064769 p.Asn117Lys Polymorphism rs643232 -
C6orf204 Q5SZL2 VAR_034670 p.Ser137Gly Polymorphism rs3734381 -
C6orf204 Q5SZL2 VAR_034671 p.Asp166Val Polymorphism rs9489444 -
C6orf204 Q5SZL2 VAR_034672 p.Pro251Thr Polymorphism rs3734382 -
C6orf204 Q5SZL2 VAR_036247 p.Ser345Phe Unclassified - A breast cancer sample
C6orf204 Q5SZL2 VAR_053941 p.Gln532His Polymorphism rs9489410 -
C6orf204 Q5SZL2 VAR_053942 p.Met640Val Polymorphism rs7743702 -
C6orf208 Q9H8X3 VAR_024304 p.Trp91Arg Polymorphism rs1078211 -
C6orf208 Q9H8X3 VAR_024305 p.Lys119Arg Polymorphism rs1078208 -
C6orf208 Q9H8X3 VAR_033682 p.Ser27Cys Polymorphism rs6926145 -
C6orf211 Q9H993 VAR_025791 p.Pro77Arg Polymorphism rs17850732 -
C6orf211 Q9H993 VAR_053090 p.Lys73Asn Polymorphism rs35036943 -
C6orf211 Q9H993 VAR_053091 p.Gly150Glu Polymorphism rs35734927 -
C6orf211 Q9H993 VAR_053092 p.Ser154Ala Polymorphism rs34437617 -
C6orf211 Q9H993 VAR_053093 p.His161Pro Polymorphism rs36037706 -
C6orf211 Q9H993 VAR_053094 p.Ile264Val Polymorphism rs35989216 -
C6orf211 Q9H993 VAR_053095 p.Ala317Thr Polymorphism rs35972078 -
C6orf222 P0C671 VAR_056808 p.Leu582Val Polymorphism rs743852 -
C6orf223 Q8N319 VAR_050816 p.Lys48Glu Polymorphism rs2295333 -
C6orf223 Q8N319 VAR_061592 p.Val107Met Polymorphism rs60336135 -
C6orf26 Q5SSQ6 VAR_056889 p.Pro30Ser Polymorphism rs17201151 -
C6orf26 Q5SSQ6 VAR_056890 p.Pro99Leu Polymorphism rs6905572 -
C6orf27 Q9Y334 VAR_056884 p.Arg139His Polymorphism rs17207531 -
C6orf27 Q9Y334 VAR_056885 p.Arg488Gln Polymorphism rs11966331 -
C6orf27 Q9Y334 VAR_056886 p.Arg680Gln Polymorphism rs28400004 -
C6orf27 Q9Y334 VAR_056887 p.Gly704Val Polymorphism rs28400002 -
C6orf27 Q9Y334 VAR_056888 p.Arg711Cys Polymorphism rs28400001 -
C6orf27 Q9Y334 VAR_060378 p.Thr861Ala Polymorphism rs3101017 -
C6orf47 O95873 VAR_022911 p.Gly68Arg Polymorphism rs3130617 -
C6orf47 O95873 VAR_056797 p.Lys92Asn Polymorphism rs2242655 -
C6orf52 Q5T4I8 VAR_033318 p.Ala13Asp Polymorphism rs7749306 -
C6orf57 Q5VUM1 VAR_026890 p.Gln46Arg Polymorphism rs1048886 -
C6orf57 Q5VUM1 VAR_053598 p.Arg57Cys Polymorphism rs34711085 -
C6orf58 Q6P5S2 VAR_033675 p.Cys308Gly Polymorphism rs9491833 -
C6orf62 Q9GZU0 VAR_050803 p.Trp116Cys Polymorphism rs34238213 -
C6orf62 Q9GZU0 VAR_050804 p.Arg140Ser Polymorphism rs35050510 -
C6orf70 Q5T6L9 VAR_033300 p.Ser540Gly Polymorphism rs4716346 -
C6orf94 Q5TFG8 VAR_053853 p.Pro6Ser Polymorphism rs6934118 -
C6orf97 Q8IYT3 VAR_028856 p.Ala269Val Polymorphism rs12205837 -
C6orf97 Q8IYT3 VAR_028857 p.Phe324Ser Polymorphism rs953767 -
C6orf97 Q8IYT3 VAR_028858 p.Ala331Thr Polymorphism rs17855718 -
C6orf97 Q8IYT3 VAR_028859 p.Val604Ile Polymorphism rs6929137 -
C6orf97 Q8IYT3 VAR_028860 p.Val683Ile Polymorphism rs3734804 -
C6orf97 Q8IYT3 VAR_050805 p.Asn479Lys Polymorphism rs35159094 -
C6orf97 Q8IYT3 VAR_050806 p.Arg553Gln Polymorphism rs34430497 -
C6orf97 Q8IYT3 VAR_061591 p.Glu345Lys Polymorphism rs55868409 -
C7 P10643 VAR_012643 p.Arg220Gln Disease - Complement component 7 deficiency (C7D) [MIM:610102]
C7 P10643 VAR_012644 p.Gly379Arg Disease - Complement component 7 deficiency (C7D) [MIM:610102]
C7 P10643 VAR_012645 p.Arg521Ser Disease - Complement component 7 deficiency (C7D) [MIM:610102]
C7 P10643 VAR_012646 p.Glu682Gln Disease - Complement component 7 deficiency (C7D) [MIM:610102]
C7 P10643 VAR_012647 p.Arg687His Disease - Complement component 7 deficiency (C7D) [MIM:610102]
C7 P10643 VAR_022023 p.Lys420Gln Polymorphism rs3792646 -
C7 P10643 VAR_033798 p.Ser389Thr Polymorphism rs1063499 -
C7 P10643 VAR_033799 p.Thr587Pro Polymorphism rs13157656 -
C7 P10643 VAR_050480 p.Cys128Arg Polymorphism rs2271708 -
C7orf10 Q9HAC7 VAR_054852 p.Arg336Trp Disease - Glutaric aciduria type 3 (GA3) [MIM:231690]
C7orf25 Q9BPX7 VAR_053848 p.Gly265Glu Polymorphism rs3735471 -
C7orf26 Q96N11 VAR_061593 p.Arg245Cys Polymorphism rs35534502 -
C7orf31 Q8N865 VAR_022781 p.Tyr82Cys Polymorphism rs2717858 -
C7orf31 Q8N865 VAR_022782 p.Ala158Thr Polymorphism rs12535348 -
C7orf31 Q8N865 VAR_022783 p.Thr187Ser Polymorphism rs2523072 -
C7orf31 Q8N865 VAR_022784 p.His300Arg Polymorphism rs2285738 -
C7orf31 Q8N865 VAR_056809 p.Glu13Lys Polymorphism rs11980216 -
C7orf31 Q8N865 VAR_056810 p.Arg86Cys Polymorphism rs3213642 -
C7orf31 Q8N865 VAR_056811 p.Pro238Gln Polymorphism rs11984293 -
C7orf31 Q8N865 VAR_056812 p.Ala249Thr Polymorphism rs17150982 -
C7orf31 Q8N865 VAR_060608 p.Pro143Gln Polymorphism rs17855102 -
C7orf31 Q8N865 VAR_060609 p.Asn518Asp Polymorphism rs17857512 -
C7orf36 Q9NRH1 VAR_024306 p.Lys68Glu Polymorphism rs6947660 -
C7orf43 Q8WVR3 VAR_050817 p.Arg295His Polymorphism rs2293477 -
C7orf45 Q8WWF3 VAR_029873 p.Arg88Trp Polymorphism rs4728190 -
C7orf46 A4D161 VAR_033215 p.Tyr20His Polymorphism rs17855785 -
C7orf46 A4D161 VAR_033216 p.Ala90Thr Polymorphism rs34518648 -
C7orf46 A4D161 VAR_033217 p.Cys95Arg Polymorphism rs35495590 -
C7orf46 A4D161 VAR_033218 p.His128Arg Polymorphism rs17855786 -
C7orf46 A4D161 VAR_033219 p.Ser240Gly Polymorphism rs35928055 -
C7orf55 Q96HJ9 VAR_042520 p.Ser8Ala Polymorphism rs10265 -
C7orf57 Q8NEG2 VAR_056813 p.Ala74Ser Polymorphism rs10951942 -
C7orf58 A4D0V7 VAR_038664 p.Ile326Thr Polymorphism rs17143165 -
C7orf58 A4D0V7 VAR_038665 p.Ala551Gly Polymorphism rs41281692 -
C7orf58 A4D0V7 VAR_038666 p.Glu708Gly Polymorphism rs35793694 -
C7orf58 A4D0V7 VAR_038667 p.Lys949Thr Polymorphism rs798911 -
C7orf62 Q8TBZ9 VAR_039351 p.Asp48His Polymorphism rs2373396 -
C7orf62 Q8TBZ9 VAR_039352 p.Ile126Val Polymorphism rs2293583 -
C7orf62 Q8TBZ9 VAR_039353 p.Cys186Ser Polymorphism rs34276371 -
C7orf62 Q8TBZ9 VAR_039354 p.Glu221Lys Polymorphism rs2373397 -
C7orf62 Q8TBZ9 VAR_039355 p.Glu221Ala Polymorphism rs2373398 -
C7orf63 A5D8W1 VAR_039219 p.Ser22Arg Polymorphism rs17862129 -
C7orf63 A5D8W1 VAR_039220 p.Arg306Cys Polymorphism rs17866223 -
C7orf63 A5D8W1 VAR_039221 p.Pro459Leu Polymorphism rs17865959 -
C7orf63 A5D8W1 VAR_039222 p.Val490Met Polymorphism rs1029365 -
C7orf63 A5D8W1 VAR_039223 p.Thr885Met Polymorphism rs17865475 -
C7orf69 Q9H7B7 VAR_043942 p.Lys32Glu Polymorphism rs9719534 -
C8A P07357 VAR_011889 p.Gln93Lys Polymorphism rs652785 -
C8A P07357 VAR_011890 p.Thr407Ile Polymorphism rs706479 -
C8A P07357 VAR_011891 p.Arg485Leu Polymorphism rs1620075 -
C8A P07357 VAR_011892 p.Glu561Gln Polymorphism rs1342440 -
C8A P07357 VAR_033800 p.Asp458Asn Polymorphism rs17114555 -
C8A P07357 VAR_033801 p.Pro575Leu Polymorphism rs17300936 -
C8B P07358 VAR_012642 p.Arg117Gly Polymorphism rs1013579 -
C8B P07358 VAR_027649 p.Glu108Lys Polymorphism rs12067507 -
C8B P07358 VAR_027650 p.Pro261Leu Polymorphism rs12085435 -
C8G P07360 VAR_014668 p.Arg69Gln Polymorphism rs17614 -
C8G P07360 VAR_014669 p.His124Asn Polymorphism rs17613 -
C8G P07360 VAR_044319 p.Asp118Gly Polymorphism rs7850844 -
C8orf17 Q9NRJ1 VAR_042878 p.Thr19Met Polymorphism rs2233233 -
C8orf17 Q9NRJ1 VAR_042879 p.Lys49Arg Polymorphism rs2233235 -
C8orf17 Q9NRJ1 VAR_042880 p.Thr57Ile Polymorphism rs2233236 -
C8orf31 Q8N9H6 VAR_033150 p.Leu39Pro Polymorphism rs11136300 -
C8orf34 Q49A92 VAR_042690 p.Lys75Asn Unclassified - A colorectal cancer sample
C8orf34 Q49A92 VAR_042691 p.Ala426Thr Polymorphism rs16935065 -
C8orf37 Q96NL8 VAR_033683 p.Pro19Ala Polymorphism rs36096184 -
C8orf38 Q330K2 VAR_047770 p.Gln99Arg Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
C8orf4 Q9NR00 VAR_050819 p.Val10Ile Polymorphism rs6474226 -
C8orf44 Q96CB5 VAR_030888 p.Gln131Arg Polymorphism rs1909534 -
C8orf44 Q96CB5 VAR_030889 p.Phe148Ser Polymorphism rs1057463 -
C8orf45 Q4G0Z9 VAR_028861 p.Met137Lys Polymorphism rs16933088 -
C8orf45 Q4G0Z9 VAR_028862 p.Leu322Val Polymorphism rs17332410 -
C8orf45 Q4G0Z9 VAR_028863 p.Ser583Ala Polymorphism rs11778562 -
C8orf47 Q6P6B1 VAR_033176 p.Arg59His Polymorphism rs7833473 -
C8orf47 Q6P6B1 VAR_033177 p.Gln244Pro Polymorphism rs35368005 -
C8orf47 Q6P6B1 VAR_033178 p.His287Arg Polymorphism rs11994440 -
C8orf48 Q96LL4 VAR_063134 p.Ser28Phe Polymorphism rs13273355 -
C8orf48 Q96LL4 VAR_063135 p.Leu285Met Polymorphism rs11203497 -
C8orf49 Q96NF6 VAR_029849 p.Arg26Gly Polymorphism rs804285 -
C8orf49 Q96NF6 VAR_029850 p.Ile81Val Polymorphism rs809204 -
C8orf49 Q96NF6 VAR_029851 p.Arg95Gly Polymorphism rs13281294 -
C8orf55 Q8WUY1 VAR_032034 p.Glu93Gln Polymorphism rs17851711 -
C8orf73 A6NGR9 VAR_039305 p.His97Gln Polymorphism rs4873803 -
C8orf73 A6NGR9 VAR_039306 p.Val132Ala Polymorphism rs4874153 -
C8orf73 A6NGR9 VAR_039307 p.Thr134Ile Polymorphism rs10866911 -
C8orf73 A6NGR9 VAR_061595 p.Ala619Thr Polymorphism rs13255489 -
C8orf74 Q6P047 VAR_033684 p.Leu15Phe Polymorphism rs11250058 -
C8orf74 Q6P047 VAR_061596 p.Ile222Val Polymorphism rs57041981 -
C8orf77 Q0IIN9 VAR_032035 p.Leu84Ile Polymorphism rs2294043 -
C8orf78 Q96M78 VAR_029819 p.Leu92Ser Polymorphism rs13258808 -
C8orf80 Q68CJ6 VAR_034823 p.Arg23Pro Polymorphism rs6998705 -
C8orf80 Q68CJ6 VAR_034824 p.Ser180Gly Polymorphism rs4732620 -
C8orf80 Q68CJ6 VAR_034825 p.Gln328Arg Polymorphism rs7817227 -
C8orf80 Q68CJ6 VAR_034826 p.Ser474Asn Polymorphism rs13279787 -
C8orf80 Q68CJ6 VAR_056814 p.Arg492Trp Polymorphism rs2305453 -
C8orf86 Q6ZUL3 VAR_046186 p.Arg81His Polymorphism rs1378332 -
C9 P02748 VAR_012648 p.Cys119Gly Disease - Complement component 9 deficiency (C9D) [MIM:613825]
C9 P02748 VAR_022024 p.Arg5Trp Polymorphism rs700233 -
C9 P02748 VAR_027651 p.Ile203Val Polymorphism rs13361416 -
C9 P02748 VAR_033802 p.Thr279Ser Polymorphism rs34625111 -
C9 P02748 VAR_050481 p.Asp127Tyr Polymorphism rs696763 -
C9 P02748 VAR_061503 p.Ser427Thr Polymorphism rs34421659 -
C9orf100 Q8N4T4 VAR_032876 p.His306Arg Polymorphism rs2297879 -
C9orf100 Q8N4T4 VAR_061801 p.Cys5Phe Polymorphism rs45567235 -
C9orf103 Q5T6J7 VAR_042433 p.Lys185Thr Polymorphism rs1052690 -
C9orf114 Q5T280 VAR_026552 p.Thr130Arg Polymorphism rs6478854 -
C9orf114 Q5T280 VAR_026553 p.Ile369Thr Polymorphism rs2280843 -
C9orf114 Q5T280 VAR_050844 p.Ala63Val Polymorphism rs34500948 -
C9orf117 Q5JU67 VAR_050845 p.Tyr483Ser Polymorphism rs497632 -
C9orf123 Q96GE9 VAR_056819 p.Pro28Thr Polymorphism rs1127430 -
C9orf128 A6H8Z2 VAR_061598 p.His34Arg Polymorphism rs13294256 -
C9orf128 A6H8Z2 VAR_061599 p.Lys41Glu Polymorphism rs13294245 -
C9orf129 Q5T035 VAR_061600 p.Arg191His Polymorphism rs36081907 -
C9orf131 Q5VYM1 VAR_047239 p.Trp222Leu Polymorphism rs615474 -
C9orf131 Q5VYM1 VAR_047240 p.Leu285Phe Polymorphism rs10117097 -
C9orf131 Q5VYM1 VAR_047241 p.Leu437Val Polymorphism rs35523761 -
C9orf131 Q5VYM1 VAR_047242 p.Ser623Thr Polymorphism rs2298312 -
C9orf131 Q5VYM1 VAR_047243 p.Pro916Ser Polymorphism rs3739871 -
C9orf139 Q6ZV77 VAR_031749 p.Lys168Glu Polymorphism rs12337910 -
C9orf141 Q5SQ13 VAR_044192 p.Leu8Phe Polymorphism rs11787585 -
C9orf141 Q5SQ13 VAR_044193 p.Gln37Arg Polymorphism rs2386136 -
C9orf141 Q5SQ13 VAR_044194 p.Trp220Gly Polymorphism rs11790360 -
C9orf150 Q8IV03 VAR_028155 p.Ser62Gly Polymorphism rs3750501 -
C9orf156 Q9BU70 VAR_032527 p.Ser7Pro Polymorphism rs3183927 -
C9orf156 Q9BU70 VAR_032528 p.Val252Ala Polymorphism rs35606344 -
C9orf156 Q9BU70 VAR_032529 p.Val324Met Polymorphism rs2282192 -
C9orf163 Q8N9P6 VAR_032526 p.Leu5Pro Polymorphism rs34376913 -
C9orf171 Q6ZQR2 VAR_039959 p.Gly137Arg Polymorphism rs7047726 -
C9orf171 Q6ZQR2 VAR_039960 p.Arg172Trp Unclassified - A colorectal cancer sample
C9orf171 Q6ZQR2 VAR_039961 p.Arg184His Polymorphism rs11243798 -
C9orf171 Q6ZQR2 VAR_062164 p.Lys244Gln Polymorphism rs34650498 -
C9orf173 Q8N7X2 VAR_039898 p.Ser126Gly Polymorphism rs28657439 -
C9orf174 Q9P1Z9 VAR_038151 p.Pro301His Polymorphism rs7864805 -
C9orf174 Q9P1Z9 VAR_038152 p.Ser322Arg Polymorphism rs17855671 -
C9orf174 Q9P1Z9 VAR_038153 p.Leu373His Polymorphism rs10981558 -
C9orf174 Q9P1Z9 VAR_038154 p.Glu917Lys Polymorphism rs12353306 -
C9orf174 Q9P1Z9 VAR_038155 p.Ser995Cys Polymorphism rs2061634 -
C9orf174 Q9P1Z9 VAR_038156 p.Phe1146Leu Polymorphism rs3747495 -
C9orf174 Q9P1Z9 VAR_038157 p.Asp1518Asn Polymorphism rs2306093 -
C9orf174 Q9P1Z9 VAR_061250 p.Pro548Arg Polymorphism rs61261278 -
C9orf21 Q7RTV5 VAR_052598 p.Arg83Lys Polymorphism rs9886834 -
C9orf24 Q8NCR6 VAR_034626 p.Pro233Gln Polymorphism rs17852663 -
C9orf43 Q8TAL5 VAR_061597 p.Asp252Gly Polymorphism rs41313331 -
C9orf5 Q9H330 VAR_056815 p.Ala314Thr Polymorphism rs2271877 -
C9orf5 Q9H330 VAR_056816 p.Thr787Ala Polymorphism rs3750455 -
C9orf5 Q9H330 VAR_059604 p.Asp9Glu Polymorphism rs12001627 -
C9orf50 Q5SZB4 VAR_033220 p.Arg248Lys Polymorphism rs918165 -
C9orf50 Q5SZB4 VAR_033221 p.Arg312Gln Polymorphism rs3213763 -
C9orf50 Q5SZB4 VAR_033222 p.Arg381Gln Polymorphism rs2302779 -
C9orf50 Q5SZB4 VAR_033223 p.Lys415Arg Polymorphism rs3087721 -
C9orf51 B1ANY3 VAR_050820 p.Trp162Arg Polymorphism rs1832322 -
C9orf51 B1ANY3 VAR_050821 p.Lys199Asn Polymorphism rs1832323 -
C9orf51 B1ANY3 VAR_050822 p.Lys203Asn Polymorphism rs12336220 -
C9orf66 Q5T8R8 VAR_050824 p.Leu43Arg Polymorphism rs636922 -
C9orf66 Q5T8R8 VAR_050825 p.Arg178Gln Polymorphism rs2236547 -
C9orf66 Q5T8R8 VAR_050826 p.Arg231Gly Polymorphism rs540473 -
C9orf68 Q8N4H0 VAR_053838 p.Arg243Gly Polymorphism rs10974657 -
C9orf68 Q8N4H0 VAR_053839 p.Ala310Thr Polymorphism rs16921613 -
C9orf72 Q96LT7 VAR_050827 p.Asn207Ser Polymorphism rs17769294 -
C9orf78 Q9NZ63 VAR_050828 p.Gln70His Polymorphism rs1237745 -
C9orf79 Q6ZUB1 VAR_022858 p.Thr335Pro Polymorphism rs7850542 -
C9orf79 Q6ZUB1 VAR_022859 p.Asp682Glu Polymorphism rs4076795 -
C9orf79 Q6ZUB1 VAR_022860 p.Asp704Glu Polymorphism rs4076794 -
C9orf79 Q6ZUB1 VAR_022861 p.Asp1202Gly Polymorphism rs11789780 -
C9orf79 Q6ZUB1 VAR_022862 p.Arg1350His Polymorphism rs11142017 -
C9orf79 Q6ZUB1 VAR_053943 p.Val409Met Polymorphism rs34946554 -
C9orf79 Q6ZUB1 VAR_053944 p.Lys586Glu Polymorphism rs35232271 -
C9orf79 Q6ZUB1 VAR_053945 p.Thr671Met Polymorphism rs36079890 -
C9orf79 Q6ZUB1 VAR_053946 p.Gly700Arg Polymorphism rs34017995 -
C9orf79 Q6ZUB1 VAR_053947 p.Ala736Val Polymorphism rs34791830 -
C9orf79 Q6ZUB1 VAR_053948 p.Pro924Leu Polymorphism rs34051334 -
C9orf79 Q6ZUB1 VAR_053949 p.Val1019Glu Polymorphism rs10868670 -
C9orf79 Q6ZUB1 VAR_062203 p.Thr208Ser Polymorphism rs28510722 -
C9orf82 Q9H8G2 VAR_056818 p.Val233Met Polymorphism rs12342214 -
C9orf84 Q5VXU9 VAR_050829 p.Thr226Ser Polymorphism rs10981047 -
C9orf84 Q5VXU9 VAR_050830 p.His416Arg Polymorphism rs7470491 -
C9orf84 Q5VXU9 VAR_050831 p.Ile649Thr Polymorphism rs1322257 -
C9orf84 Q5VXU9 VAR_050832 p.Met734Leu Polymorphism rs11791445 -
C9orf84 Q5VXU9 VAR_050833 p.Arg788Lys Polymorphism rs7868266 -
C9orf84 Q5VXU9 VAR_050834 p.Asn809Lys Polymorphism rs7036568 -
C9orf84 Q5VXU9 VAR_050835 p.Tyr932Cys Polymorphism rs1407390 -
C9orf84 Q5VXU9 VAR_050836 p.Leu968Pro Polymorphism rs6477845 -
C9orf84 Q5VXU9 VAR_050837 p.Ile1162Thr Polymorphism rs1475110 -
C9orf84 Q5VXU9 VAR_050838 p.Glu1174Gly Polymorphism rs7869279 -
C9orf84 Q5VXU9 VAR_050839 p.Asn1380Lys Polymorphism rs1322254 -
C9orf84 Q5VXU9 VAR_050840 p.Arg1425Cys Polymorphism rs10981009 -
C9orf9 Q96E40 VAR_056817 p.Val104Ile Polymorphism rs2231406 -
C9orf93 Q6TFL3 VAR_022803 p.Ile17Asn Polymorphism rs443563 -
C9orf93 Q6TFL3 VAR_022804 p.Ser121Thr Polymorphism rs4741510 -
C9orf93 Q6TFL3 VAR_022805 p.Lys1069Arg Polymorphism rs1539172 -
C9orf93 Q6TFL3 VAR_033685 p.Asn495Ile Polymorphism rs10962127 -
C9orf93 Q6TFL3 VAR_050841 p.Cys821Tyr Polymorphism rs34816651 -
CA1 P00915 VAR_001378 p.His68Arg Unclassified - -
CA1 P00915 VAR_001379 p.Gly254Arg Unclassified - -
CA1 P00915 VAR_048679 p.Ala143Val Polymorphism rs7821248 -
CA12 O43570 VAR_065292 p.Glu143Lys Disease - Hyperchlorhidrosis isolated (HCHLH) [MIM:143860]
CA13 Q8N1Q1 VAR_059207 p.Asn68Ser Polymorphism rs4740046 -
CA2 P00918 VAR_001380 p.Lys18Glu Unclassified - -
CA2 P00918 VAR_001381 p.Gln92Pro Disease - Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]
CA2 P00918 VAR_001382 p.His107Tyr Disease - Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]
CA2 P00918 VAR_001383 p.Pro236His Unclassified - -
CA2 P00918 VAR_001384 p.Asn252Asp Polymorphism rs2228063 -
CA2 P00918 VAR_021009 p.His94Tyr Disease - Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]
CA2 P00918 VAR_021010 p.Gly144Arg Disease - Osteopetrosis autosomal recessive type 3 (OPTB3) [MIM:259730]
CA3 P07451 VAR_016180 p.Val31Ile Polymorphism rs20571 -
CA4 P22748 VAR_024749 p.Arg14Trp Disease - Retinitis pigmentosa type 17 (RP17) [MIM:600852]
CA4 P22748 VAR_024750 p.Arg219Ser Disease - Retinitis pigmentosa type 17 (RP17) [MIM:600852]
CA4 P22748 VAR_048680 p.Val237Leu Polymorphism rs2229178 -
CA6 P23280 VAR_028268 p.Thr55Met Polymorphism rs2274327 -
CA6 P23280 VAR_028269 p.Met68Leu Polymorphism rs2274328 -
CA6 P23280 VAR_028270 p.Gly70Ala Polymorphism rs2274329 -
CA6 P23280 VAR_028271 p.Ser90Gly Polymorphism rs2274333 -
CA6 P23280 VAR_033712 p.Gln37Leu Polymorphism rs34265054 -
CA6 P23280 VAR_061093 p.Arg58Trp Polymorphism rs58800854 -
CA8 P35219 VAR_063634 p.Ser100Pro Disease - Cerebellar ataxia mental retardation and dysequilibrium syndrome type 3 (CMARQ3) [MIM:613227]
CA9 Q16790 VAR_010787 p.Val33Met Polymorphism rs2071676 -
CA9 Q16790 VAR_020049 p.Gln326Arg Polymorphism rs3829078 -
CABIN1 Q9Y6J0 VAR_052607 p.Ala56Thr Polymorphism rs5760185 -
CABIN1 Q9Y6J0 VAR_052608 p.Asp225Asn Polymorphism rs17004823 -
CABIN1 Q9Y6J0 VAR_052609 p.Ser517Arg Polymorphism rs9624393 -
CABIN1 Q9Y6J0 VAR_052610 p.Arg660Ser Polymorphism rs9624395 -
CABIN1 Q9Y6J0 VAR_052611 p.Arg853Gln Polymorphism rs17854874 -
CABIN1 Q9Y6J0 VAR_052612 p.Gln921Glu Polymorphism rs12166151 -
CABLES2 Q9BTV7 VAR_026532 p.Thr428Lys Polymorphism rs6089219 -
CABP2 Q9NPB3 VAR_063087 p.Arg94Gln Polymorphism rs2276118 -
CABP4 P57796 VAR_029375 p.Arg124Cys Disease - Congenital stationary night blindness type 2B (CSNB2B) [MIM:610427]
CABP5 Q9NP86 VAR_020020 p.Val128Ala Polymorphism rs3745746 -
CABP5 Q9NP86 VAR_033695 p.Thr65Arg Polymorphism rs34862923 -
CABP5 Q9NP86 VAR_048633 p.Leu80Pro Polymorphism rs8105198 -
CABP5 Q9NP86 VAR_048634 p.Glu140Lys Polymorphism rs34681062 -
CABP5 Q9NP86 VAR_048635 p.Ile147Ser Polymorphism rs10425606 -
CABS1 Q96KC9 VAR_043924 p.Lys76Gln Polymorphism rs3796706 -
CABS1 Q96KC9 VAR_043925 p.Thr211Ile Polymorphism rs1351419 -
CABS1 Q96KC9 VAR_043926 p.Trp298Gly Polymorphism rs2291182 -
CABYR O75952 VAR_023818 p.Ser490Ala Polymorphism rs1049683 -
CABYR O75952 VAR_030040 p.Thr74Met Polymorphism rs3786417 -
CABYR O75952 VAR_030041 p.Lys448Arg Polymorphism rs1049682 -
CABYR O75952 VAR_050709 p.Ile186Val Polymorphism rs35118855 -
CACHD1 Q5VU97 VAR_035052 p.Met414Thr Polymorphism rs6588100 -
CACNA1A O00555 VAR_001491 p.Arg192Gln Disease rs121908211 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_001492 p.Thr666Met Disease rs121908212 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_001492 p.Thr666Met Disease rs121908212 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_001493 p.Val714Ala Disease rs121908213 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_001494 p.Ile1810Leu Disease rs121908214 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_014456 p.Ala21Val Polymorphism rs15999 -
CACNA1A O00555 VAR_014458 p.Pro914Ser Polymorphism rs16020 -
CACNA1A O00555 VAR_014459 p.Glu918Asp Polymorphism rs16022 -
CACNA1A O00555 VAR_014461 p.Glu1015Lys Polymorphism rs16024 -
CACNA1A O00555 VAR_014462 p.Gly1105Ser Polymorphism rs16027 -
CACNA1A O00555 VAR_014463 p.Pro2394Ser Polymorphism rs16056 -
CACNA1A O00555 VAR_043820 p.Arg195Lys Disease rs121908222 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_043821 p.Ser218Leu Disease rs121908225 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_043822 p.His253Tyr Disease rs121908228 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_043823 p.Cys256Arg Disease rs121908231 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_043824 p.Cys287Tyr Disease rs121908236 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_043825 p.Gly293Arg Disease rs121908215 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_043825 p.Gly293Arg Disease rs121908215 Spinocerebellar ataxia type 6 (SCA6) [MIM:183086]
CACNA1A O00555 VAR_043826 p.Arg583Gln Disease rs121908217 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_043827 p.Asp715Glu Disease rs121908218 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_043828 p.Glu993Val Polymorphism rs16023 -
CACNA1A O00555 VAR_043829 p.Lys1335Glu Disease rs121908223 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_043830 p.Arg1346Gln Disease rs121908230 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_043831 p.Tyr1384Cys Disease rs121908219 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_043832 p.Phe1403Cys Disease rs121908227 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_043833 p.Val1456Leu Disease rs121908237 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_043834 p.Gly1482Arg Disease rs121908232 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_043835 p.Phe1490Ser Disease rs121908233 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_043836 p.Val1493Ile Disease rs121908234 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_043837 p.Arg1661His Disease rs121908216 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_043838 p.Arg1667Trp Disease rs121908220 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_043839 p.Trp1683Arg Disease rs121908221 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1A O00555 VAR_043840 p.His1736Leu Disease rs121908229 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_043841 p.Glu1756Lys Disease rs121908226 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_043842 p.Arg2135Cys Disease rs121908235 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_059221 p.Glu732Ala Polymorphism rs16019 -
CACNA1A O00555 VAR_059222 p.Pro1173Leu Polymorphism rs16028 -
CACNA1A O00555 VAR_063683 p.Tyr248Cys Disease rs121908238 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_063684 p.Leu389Phe Disease rs121908239 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_063685 p.Ala405Thr Disease rs1219082456Spinocerebellar ataxia type 6 (SCA6) [MIM:183086]
CACNA1A O00555 VAR_063686 p.Ala454Thr Polymorphism rs41276886 -
CACNA1A O00555 VAR_063687 p.Thr501Met Disease rs121908240 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_063688 p.Gly638Asp Disease rs121908246 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_063689 p.Met798Thr Disease rs121908241 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_063690 p.Pro897Arg Disease rs121908242 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_063691 p.Arg1664Gln Disease rs121908247 Spinocerebellar ataxia type 6 (SCA6) [MIM:183086]
CACNA1A O00555 VAR_063692 p.Arg1679Cys Disease rs121908243 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_063693 p.Cys1869Arg Disease rs121908244 Episodic ataxia type 2 (EA2) [MIM:108500]
CACNA1A O00555 VAR_063706 p.Val1695Ile Disease rs121908224 Familial hemiplegic migraine type 1 (FHM1) [MIM:141500]
CACNA1B Q00975 VAR_048741 p.Asn167Lys Polymorphism rs4422842 -
CACNA1B Q00975 VAR_048742 p.Glu1436Lys Polymorphism rs12377346 -
CACNA1B Q00975 VAR_048743 p.Glu1500Lys Polymorphism rs12377346 -
CACNA1B Q00975 VAR_061100 p.Ala862Ser Polymorphism rs7873074 -
CACNA1B Q00975 VAR_061101 p.Thr996Ala Polymorphism rs11137342 -
CACNA1C Q13936 VAR_001495 p.Ala752Thr Polymorphism - -
CACNA1C Q13936 VAR_001496 p.Ala2169Thr Polymorphism - -
CACNA1C Q13936 VAR_026741 p.Gly402Ser Disease - Timothy syndrome (TS) [MIM:601005]
CACNA1C Q13936 VAR_026742 p.Gly406Arg Disease - Timothy syndrome (TS) [MIM:601005]
CACNA1C Q13936 VAR_044039 p.Ala39Val Disease - Brugada syndrome type 3 (BRS3) [MIM:611875]
CACNA1C Q13936 VAR_044040 p.Gly490Arg Disease - Brugada syndrome type 3 (BRS3) [MIM:611875]
CACNA1C Q13936 VAR_045987 p.Gln84Arg Polymorphism rs1051345 -
CACNA1C Q13936 VAR_045988 p.Ile391Leu Polymorphism rs1051356 -
CACNA1C Q13936 VAR_059223 p.Pro1868Leu Polymorphism rs10848683 -
CACNA1C Q13936 VAR_059224 p.Met1869Val Polymorphism rs10774053 -
CACNA1C Q13936 VAR_061102 p.Lys1893Arg Polymorphism rs10774054 -
CACNA1C Q13936 VAR_064700 p.Ser878Arg Unclassified - -
CACNA1D Q01668 VAR_061103 p.Asp2097Asn Polymorphism rs41276455 -
CACNA1E Q15878 VAR_031912 p.Asp859Glu Polymorphism rs35737760 -
CACNA1E Q15878 VAR_046996 p.Ala1955Thr Polymorphism rs704326 -
CACNA1F O60840 VAR_001504 p.Gly369Asp Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_001505 p.Arg519Gln Disease rs34162630 Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_001506 p.Arg1060Trp Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_001507 p.Leu1375His Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_029376 p.Asn746Thr Polymorphism - -
CACNA1F O60840 VAR_030807 p.Pro14Leu Polymorphism rs6520408 -
CACNA1F O60840 VAR_030808 p.Cys74Arg Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030809 p.Gly150Arg Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030810 p.Ser229Pro Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030811 p.Gly261Arg Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030812 p.Val635Ile Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030813 p.Gly674Asp Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030814 p.Phe753Cys Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030815 p.Ile756Thr Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030816 p.Leu860Pro Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030817 p.Ala928Asp Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030818 p.Gly1018Arg Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030819 p.Leu1079Pro Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030820 p.Cys1499Arg Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030821 p.Pro1500Arg Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_030822 p.Leu1508Pro Disease - Congenital stationary night blindness type 2A (CSNB2A) [MIM:300071]
CACNA1F O60840 VAR_031822 p.Ala1270Thr Polymorphism rs34308720 -
CACNA1F O60840 VAR_054818 p.Arg1930His Polymorphism rs33910054 -
CACNA1F O60840 VAR_055662 p.Ala1259Thr Polymorphism rs34308720 -
CACNA1H O95180 VAR_033698 p.Glu1974Gly Polymorphism rs3751886 -
CACNA1H O95180 VAR_045935 p.Phe161Leu Disease - Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]
CACNA1H O95180 VAR_045936 p.Glu282Lys Disease - Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]
CACNA1H O95180 VAR_045937 p.Met313Val Polymorphism rs36117280 -
CACNA1H O95180 VAR_045938 p.Cys456Ser Disease - Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]
CACNA1H O95180 VAR_045939 p.Gly499Ser Disease - Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]
CACNA1H O95180 VAR_045940 p.Pro640Leu Polymorphism - -
CACNA1H O95180 VAR_045941 p.Pro648Leu Disease - Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]
CACNA1H O95180 VAR_045942 p.Val664Ala Polymorphism rs4984636 -
CACNA1H O95180 VAR_045943 p.Pro684Ser Polymorphism - -
CACNA1H O95180 VAR_045944 p.Arg744Gln Disease - Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]
CACNA1H O95180 VAR_045945 p.Ala748Val Disease - Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]
CACNA1H O95180 VAR_045946 p.Gly773Asp Disease - Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]
CACNA1H O95180 VAR_045947 p.Gly784Ser Disease - Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]
CACNA1H O95180 VAR_045948 p.Arg788Cys Polymorphism rs3751664 -
CACNA1H O95180 VAR_045949 p.Val812Met Polymorphism rs28365119 -
CACNA1H O95180 VAR_045950 p.Val831Met Disease - Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]
CACNA1H O95180 VAR_045951 p.Gly848Ser Disease - Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]
CACNA1H O95180 VAR_045952 p.Asp1463Asn Disease - Idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]
CACNA1H O95180 VAR_045953 p.Arg2060His Polymorphism rs1054644 -
CACNA1H O95180 VAR_045954 p.Arg2077His Polymorphism rs1054645 -
CACNA1H O95180 VAR_045955 p.Pro2173Ser Polymorphism - -
CACNA1H O95180 VAR_061104 p.Arg1871Gln Polymorphism rs58124832 -
CACNA1I Q9P0X4 VAR_013883 p.Ile1040Val Polymorphism rs136853 -
CACNA1I Q9P0X4 VAR_013884 p.Gly1782Ala Polymorphism rs2294369 -
CACNA1I Q9P0X4 VAR_020050 p.Gly1782Arg Polymorphism rs2294369 -
CACNA1I Q9P0X4 VAR_048745 p.Thr1513Met Polymorphism rs8141262 -
CACNA1S Q13698 VAR_001498 p.Leu458His Polymorphism rs12742169 -
CACNA1S Q13698 VAR_001499 p.Arg528His Disease - Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]
CACNA1S Q13698 VAR_001500 p.Arg1086His Disease rs1800559 Malignant hyperthermia susceptibility type 5 (MHS5) [MIM:601887]
CACNA1S Q13698 VAR_001501 p.Arg1239Gly Disease rs28930069 Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]
CACNA1S Q13698 VAR_001502 p.Arg1239His Disease rs28930068 Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]
CACNA1S Q13698 VAR_001503 p.Arg1539Cys Polymorphism rs3850625 -
CACNA1S Q13698 VAR_046970 p.Ala69Gly Polymorphism rs12406479 -
CACNA1S Q13698 VAR_046971 p.Arg1658His Polymorphism rs13374149 -
CACNA1S Q13698 VAR_046972 p.Leu1800Ser Polymorphism rs12139527 -
CACNA1S Q13698 VAR_046973 p.Glu1840Asp Polymorphism rs1042379 -
CACNA1S Q13698 VAR_054953 p.Arg528Gly Disease - Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]
CACNA1S Q13698 VAR_054954 p.Arg900Ser Disease - Periodic paralysis hypokalemic type 1 (HOKPP1) [MIM:170400]
CACNA2D1 P54289 VAR_035047 p.Asp1057Ala Polymorphism rs35131433 -
CACNA2D1 P54289 VAR_053960 p.Glu1019Asp Polymorphism rs9886043 -
CACNA2D2 Q9NY47 VAR_035048 p.Ala138Val Polymorphism rs35497591 -
CACNA2D2 Q9NY47 VAR_057782 p.Glu334Lys Polymorphism rs743855 -
CACNA2D4 Q7Z3S7 VAR_035049 p.Ile327Val Polymorphism rs10735005 -
CACNA2D4 Q7Z3S7 VAR_035050 p.Arg863His Polymorphism rs36077411 -
CACNA2D4 Q7Z3S7 VAR_035051 p.Thr869Met Polymorphism rs35331095 -
CACNB1 Q02641 VAR_036349 p.Pro339Leu Unclassified - A colorectal cancer sample
CACNB2 Q08289 VAR_036350 p.Ala99Gly Unclassified - A colorectal cancer sample
CACNB2 Q08289 VAR_044041 p.Ser535Leu Disease - Brugada syndrome type 4 (BRS4) [MIM:611876]
CACNB3 P54284 VAR_024384 p.Arg423His Polymorphism rs2229954 -
CACNB4 O00305 VAR_013669 p.Cys104Phe Disease rs1805031 Episodic ataxia type 5 (EA5) [MIM:613855]
CACNG1 Q06432 VAR_012063 p.Gly196Ser Polymorphism rs1799938 -
CACNG2 Q9Y698 VAR_066599 p.Val143Leu Disease - Mental retardation autosomal dominant type 10 (MRD10) [MIM:614256]
CACNG6 Q9BXT2 VAR_061540 p.Cys252Ser Polymorphism rs12980121 -
CAD P27708 VAR_035897 p.Arg177Gln Unclassified - A colorectal cancer sample
CAD P27708 VAR_035898 p.Tyr735Cys Unclassified - A colorectal cancer sample
CADM1 Q9BY67 VAR_061309 p.Asp285Glu Polymorphism rs45525440 -
CADM3 Q8N126 VAR_059383 p.Arg162Trp Polymorphism rs3026987 -
CADM4 Q8NFZ8 VAR_032906 p.Thr225Ala Polymorphism rs34246023 -
CADPS2 Q86UW7 VAR_024786 p.Ala298Thr Polymorphism rs17144625 -
CAGE1 Q8TC20 VAR_031200 p.Thr169Ile Polymorphism rs10223538 -
CAGE1 Q8TC20 VAR_031201 p.Glu282Ala Polymorphism rs2876098 -
CALCA P01258 VAR_014592 p.Asn57Asp Polymorphism rs5239 -
CALCA P01258 VAR_014593 p.Ser76Arg Polymorphism rs5241 -
CALCA P01258 VAR_025271 p.Gly2Arg Polymorphism rs34587547 -
CALCA P01258 VAR_025272 p.Glu67Lys Polymorphism rs34164367 -
CALCA P01258 VAR_025273 p.Ser123Thr Polymorphism rs34414857 -
CALCA P01258 VAR_025274 p.Gln138Pro Polymorphism rs13306224 -
CALCA P06881 VAR_048584 p.Asn57Asp Polymorphism rs5239 -
CALCOCO1 Q9P1Z2 VAR_036881 p.Arg393Lys Polymorphism rs3741659 -
CALCOCO2 Q13137 VAR_037489 p.Gly140Glu Polymorphism rs550510 -
CALCOCO2 Q13137 VAR_037490 p.Gly227Arg Polymorphism rs2303016 -
CALCOCO2 Q13137 VAR_037491 p.Val248Ala Polymorphism rs2303015 -
CALCOCO2 Q13137 VAR_037492 p.Thr273Ala Polymorphism rs17849804 -
CALCOCO2 Q13137 VAR_037493 p.Pro389Ala Polymorphism rs10278 -
CALCR P30988 VAR_003580 p.Pro463Leu Polymorphism rs1801197 -
CALCRL Q16602 VAR_049453 p.Phe16Leu Polymorphism rs13391909 -
CALCRL Q16602 VAR_049454 p.Arg274Ile Polymorphism rs34010553 -
CALCRL Q16602 VAR_054822 p.Asn8Tyr Polymorphism rs698577 -
CALD1 Q05682 VAR_065254 p.His397Arg Polymorphism rs6973420 -
CALHM1 Q8IU99 VAR_023095 p.Leu86Pro Polymorphism rs2986017 -
CALHM2 Q9HA72 VAR_033924 p.Val194Met Polymorphism rs2232662 -
CALHM2 Q9HA72 VAR_053084 p.Val136Gly Polymorphism rs2232660 -
CALM1 P62158 VAR_048585 p.Met73Thr Polymorphism rs41389749 -
CALML4 Q96GE6 VAR_048586 p.Arg28Cys Polymorphism rs3803381 -
CALML4 Q96GE6 VAR_048587 p.Thr154Lys Polymorphism rs2280217 -
CALML5 Q9NZT1 VAR_047545 p.Ser58Gly Polymorphism rs11546426 -
CALML5 Q9NZT1 VAR_047546 p.Lys74Arg Polymorphism rs10904516 -
CALML6 Q8TD86 VAR_048588 p.Trp60Arg Polymorphism rs28581776 -
CALR3 Q96L12 VAR_027944 p.Leu8Phe Polymorphism rs17851207 -
CALR3 Q96L12 VAR_027945 p.Asp248Gly Polymorphism rs10411092 -
CALR3 Q96L12 VAR_027946 p.Val274Ile Polymorphism rs12459238 -
CALR3 Q96L12 VAR_048589 p.Asp284Asn Polymorphism rs10404156 -
CALR3 Q96L12 VAR_065476 p.Lys82Arg Disease - Familial hypertrophic cardiomyopathy type 19 (CMH19) [MIM:613875]
CALU O43852 VAR_022051 p.Arg4Gln Polymorphism rs2290228 -
CAMK1 Q14012 VAR_040596 p.Pro217Ser Unclassified - A metastatic melanoma sample
CAMK1 Q14012 VAR_040597 p.Glu361Lys Polymorphism rs56033923 -
CAMK1D Q8IU85 VAR_040599 p.Ile66Met Polymorphism rs34194224 -
CAMK1G Q96NX5 VAR_020530 p.Val329Ile Polymorphism rs11119315 -
CAMK1G Q96NX5 VAR_040600 p.Glu259Gln Polymorphism rs35561962 -
CAMK1G Q96NX5 VAR_040601 p.Ala443Thr Unclassified - A breast infiltrating ductal carcinoma sample
CAMK2B Q13554 VAR_045581 p.Pro489Leu Unclassified - A colorectal adenocarcinoma sample
CAMK2B Q13554 VAR_045582 p.Glu510Lys Polymorphism - -
CAMK2D Q13557 VAR_028196 p.Gln463Glu Polymorphism rs1053668 -
CAMK2D Q13557 VAR_040602 p.Asp167Glu Polymorphism rs35367671 -
CAMK2D Q13557 VAR_040603 p.Thr493Ile Polymorphism rs35765784 -
CAMK2G Q13555 VAR_042430 p.Ser36Pro Polymorphism rs17853266 -
CAMK4 Q16566 VAR_040604 p.Glu150Gly Unclassified - A lung adenocarcinoma sample
CAMK4 Q16566 VAR_040605 p.Asp178Asn Polymorphism rs35548075 -
CAMK4 Q16566 VAR_040606 p.Gln465Arg Polymorphism rs56360861 -
CAMK4 Q16566 VAR_040607 p.Ile469Met Unclassified - A lung large cell carcinoma sample
CAMKK1 Q8N5S9 VAR_020531 p.Glu375Gly Polymorphism rs7214723 -
CAMKK2 Q96RR4 VAR_020532 p.Thr85Ser Polymorphism rs3817190 -
CAMKK2 Q96RR4 VAR_020533 p.Arg363Cys Polymorphism rs1132780 -
CAMKK2 Q96RR4 VAR_032788 p.Ser10Asn Polymorphism rs28360477 -
CAMKK2 Q96RR4 VAR_040610 p.Cys123Tyr Polymorphism rs35403710 -
CAMKK2 Q96RR4 VAR_040611 p.Pro127Leu Unclassified - A lung neuroendocrine carcinoma sample
CAMKK2 Q96RR4 VAR_040612 p.Ala182Thr Unclassified - A colorectal adenocarcinoma sample
CAMKK2 Q96RR4 VAR_040613 p.Arg492His Polymorphism rs34129994 -
CAMKV Q8NCB2 VAR_027539 p.Tyr491Cys Polymorphism rs17849325 -
CAMKV Q8NCB2 VAR_041337 p.Arg40Trp Unclassified - A colorectal adenocarcinoma sample
CAMKV Q8NCB2 VAR_041338 p.Gly60Ser Unclassified - An ovarian serous carcinoma sample
CAMKV Q8NCB2 VAR_041339 p.Arg274Trp Unclassified - A colorectal adenocarcinoma sample
CAMKV Q8NCB2 VAR_041340 p.Glu279Asp Polymorphism rs56071455 -
CAMKV Q8NCB2 VAR_041341 p.Pro472Leu Polymorphism rs56307047 -
CAMLG P49069 VAR_024297 p.Val78Ile Polymorphism rs12657663 -
CAMLG P49069 VAR_050710 p.Gly100Ser Polymorphism rs11552197 -
CAMSAP1 Q5T5Y3 VAR_038398 p.Ala476Val Polymorphism rs35639321 -
CAMSAP2 Q08AD1 VAR_038399 p.Ile361Leu Unclassified - A colorectal cancer sample
CAMSAP2 Q08AD1 VAR_038400 p.Pro958Leu Polymorphism rs3753952 -
CAMSAP2 Q08AD1 VAR_038401 p.Arg1028Pro Polymorphism rs6674599 -
CAMSAP2 Q08AD1 VAR_057796 p.Pro969Leu Polymorphism rs3753952 -
CAMSAP2 Q08AD1 VAR_057797 p.Pro1039Arg Polymorphism rs6674599 -
CAMSAP3 Q9P1Y5 VAR_053991 p.Pro335Ser Polymorphism rs3745358 -
CAMTA1 Q9Y6Y1 VAR_047824 p.Asn1177Lys Polymorphism rs41278952 -
CAMTA1 Q9Y6Y1 VAR_047825 p.Asn1218Thr Polymorphism rs41278954 -
CAMTA1 Q9Y6Y1 VAR_047826 p.Thr1336Ile Polymorphism - -
CAMTA2 O94983 VAR_026417 p.Ala267Pro Polymorphism rs238234 -
CAMTA2 O94983 VAR_026418 p.Ser903Pro Polymorphism rs16942615 -
CAND1 Q86VP6 VAR_025327 p.Ala952Val Polymorphism rs17854618 -
CAND1 Q86VP6 VAR_054041 p.Val803Ala Polymorphism rs12580996 -
CAND2 O75155 VAR_055023 p.Gln408Arg Polymorphism rs2305398 -
CAND2 O75155 VAR_055024 p.Pro476Leu Polymorphism rs2305397 -
CAND2 O75155 VAR_055025 p.Ser533Pro Polymorphism rs3732675 -
CAND2 O75155 VAR_055026 p.His655Arg Polymorphism rs9838943 -
CAND2 O75155 VAR_055027 p.Leu845Phe Polymorphism rs17037287 -
CAND2 O75155 VAR_055028 p.His858Pro Polymorphism rs3732678 -
CAND2 O75155 VAR_055029 p.Val990Ile Polymorphism rs3817121 -
CAND2 O75155 VAR_055030 p.Ala1225Thr Polymorphism rs12629133 -
CANT1 Q8WVQ1 VAR_062980 p.Pro299Leu Disease - Desbuquois dysplasia (DBQD) [MIM:251450]
CANT1 Q8WVQ1 VAR_062981 p.Arg300Cys Disease - Desbuquois dysplasia (DBQD) [MIM:251450]
CANT1 Q8WVQ1 VAR_062982 p.Arg300His Disease - Desbuquois dysplasia (DBQD) [MIM:251450]
CAP1 Q01518 VAR_028419 p.Cys229Gly Polymorphism rs11207440 -
CAP1 Q01518 VAR_028420 p.Cys236Gly Polymorphism rs6665926 -
CAP1 Q01518 VAR_028421 p.Ile245Ser Polymorphism rs6665933 -
CAP1 Q01518 VAR_028422 p.Cys247Gly Polymorphism rs6665936 -
CAP1 Q01518 VAR_028423 p.Tyr249Asp Polymorphism rs6665937 -
CAP1 Q01518 VAR_028424 p.Ser256Ala Polymorphism rs6665944 -
CAP2 P40123 VAR_033717 p.Thr311Ala Polymorphism rs34620829 -
CAP2 P40123 VAR_033718 p.Tyr316Cys Polymorphism rs34206659 -
CAPG P40121 VAR_047776 p.Val41Ile Polymorphism rs2229668 -
CAPG P40121 VAR_047777 p.Arg198Trp Polymorphism rs11539103 -
CAPG P40121 VAR_047778 p.His335Arg Polymorphism rs6886 -
CAPN1 P07384 VAR_021085 p.Thr103Ala Polymorphism rs17885718 -
CAPN1 P07384 VAR_021086 p.Arg433Pro Polymorphism rs10895991 -
CAPN1 P07384 VAR_021087 p.Gly492Arg Polymorphism rs17883283 -
CAPN1 P07384 VAR_021088 p.Val676Ile Polymorphism rs17884773 -
CAPN10 Q9HC96 VAR_014437 p.Pro200Thr Polymorphism rs3792268 -
CAPN10 Q9HC96 VAR_014438 p.Arg202His Polymorphism - -
CAPN10 Q9HC96 VAR_014439 p.Ala341Val Polymorphism - -
CAPN10 Q9HC96 VAR_014440 p.Thr504Ala Polymorphism rs7607759 -
CAPN10 Q9HC96 VAR_014441 p.Ala529Ser Polymorphism - -
CAPN10 Q9HC96 VAR_014442 p.Ser613Asn Polymorphism - -
CAPN10 Q9HC96 VAR_014443 p.Ile666Val Polymorphism rs2975766 -
CAPN10 Q9HC96 VAR_036049 p.Glu276Gly Unclassified - A colorectal cancer sample
CAPN11 Q9UMQ6 VAR_024587 p.Ser728Asn Polymorphism rs7761137 -
CAPN11 Q9UMQ6 VAR_033713 p.Val266Met Polymorphism rs6938938 -
CAPN11 Q9UMQ6 VAR_033714 p.Val441Ala Polymorphism rs16871612 -
CAPN11 Q9UMQ6 VAR_033715 p.Ile521Val Polymorphism rs34710081 -
CAPN11 Q9UMQ6 VAR_033716 p.Ser544Arg Polymorphism rs35527493 -
CAPN12 Q6ZSI9 VAR_051516 p.Cys287Arg Polymorphism rs12983010 -
CAPN13 Q6MZZ7 VAR_028964 p.His249Tyr Polymorphism rs17010210 -
CAPN13 Q6MZZ7 VAR_028965 p.Ala280Thr Polymorphism rs508405 -
CAPN13 Q6MZZ7 VAR_028966 p.Ile596Thr Polymorphism rs2276568 -
CAPN2 P17655 VAR_014435 p.Asp22Glu Polymorphism rs25655 -
CAPN2 P17655 VAR_014436 p.Lys568Gln Polymorphism rs17599 -
CAPN2 P17655 VAR_021404 p.Ser68Gly Polymorphism rs2230083 -
CAPN2 P17655 VAR_021405 p.Lys476Arg Polymorphism rs9804140 -
CAPN2 P17655 VAR_021406 p.Glu521Gln Polymorphism rs28370127 -
CAPN2 P17655 VAR_021407 p.Lys677Gln Polymorphism rs2230082 -
CAPN3 P20807 VAR_001363 p.Leu182Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_001365 p.Gly234Glu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_001366 p.Val354Gly Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_001367 p.Arg490Trp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_001368 p.Arg572Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_001369 p.Ser744Gly Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_001370 p.Arg769Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009548 p.Val4Ile Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009549 p.Pro26Leu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009550 p.Asp77Asn Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009551 p.Ser86Phe Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009553 p.Glu107Lys Polymorphism rs1801505 -
CAPN3 P20807 VAR_009554 p.Arg118Gly Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009555 p.Cys137Arg Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009556 p.Ile162Leu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009557 p.Pro183Leu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009558 p.Thr184Met Disease rs35889956 Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009559 p.Leu189Pro Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009560 p.Gly214Ser Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009561 p.Ser215Pro Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009563 p.Glu217Lys Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009564 p.Gly222Arg Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009565 p.Glu226Lys Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009566 p.Thr232Ile Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009567 p.Ala236Thr Polymorphism rs1801449 -
CAPN3 P20807 VAR_009569 p.Pro319Leu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009570 p.His334Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009571 p.Tyr336Asn Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009572 p.Trp360Cys Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009573 p.Arg437Cys Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009574 p.Arg440Trp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009575 p.Gly441Asp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009576 p.Gly445Arg Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009577 p.Arg448Cys Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009578 p.Arg448Gly Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009579 p.Arg448His Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009580 p.Ser479Gly Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009581 p.Gln486Glu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009582 p.Arg489Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009583 p.Arg489Trp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009584 p.Arg490Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009585 p.Arg493Trp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009586 p.Gly496Arg Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009587 p.Ile502Thr Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009588 p.Arg541Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009589 p.Gly567Trp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009590 p.Arg572Trp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009591 p.Ser606Leu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009592 p.Gln638Pro Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009593 p.Arg698Pro Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009594 p.Ala702Val Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009595 p.Asp705Gly Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009596 p.Asp705His Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009597 p.Phe731Ser Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009598 p.Arg748Gln Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009599 p.His774Asp Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_009600 p.Ala798Glu Disease - Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
CAPN3 P20807 VAR_015389 p.Ala160Gly Polymorphism rs17592 -
CAPN3 P20807 VAR_022272 p.Gly21Glu Polymorphism rs28364364 -
CAPN3 P20807 VAR_047691 p.Glu622Ala Polymorphism rs11557723 -
CAPN6 Q9Y6Q1 VAR_021084 p.Val277Leu Polymorphism rs12013711 -
CAPN6 Q9Y6Q1 VAR_036048 p.Gly358Arg Unclassified - A colorectal cancer sample
CAPN6 Q9Y6Q1 VAR_051515 p.Thr518Ile Polymorphism rs12851517 -
CAPN9 O14815 VAR_022188 p.Ala102Val Polymorphism rs12562749 -
CAPN9 O14815 VAR_022189 p.Ser122Arg Polymorphism rs28359608 -
CAPN9 O14815 VAR_022190 p.Asp164Asn Polymorphism rs28359632 -
CAPN9 O14815 VAR_022191 p.Ile234Thr Polymorphism rs28359644 -
CAPN9 O14815 VAR_022192 p.Ala239Thr Polymorphism rs28359647 -
CAPN9 O14815 VAR_022193 p.Arg277Trp Polymorphism rs28359655 -
CAPN9 O14815 VAR_022194 p.Lys322Gln Polymorphism rs1933631 -
CAPN9 O14815 VAR_022195 p.His327Gln Polymorphism rs28359684 -
CAPN9 O14815 VAR_022196 p.Glu342Lys Polymorphism rs16852652 -
CAPN9 O14815 VAR_022197 p.Arg458Trp Polymorphism rs28359688 -
CAPN9 O14815 VAR_022198 p.Arg522Trp Polymorphism rs12731961 -
CAPN9 O14815 VAR_022199 p.Met611Ile Polymorphism rs16852683 -
CAPNS1 P04632 VAR_021089 p.Met224Val Polymorphism rs17878750 -
CAPRIN1 Q14444 VAR_042425 p.Ala263Asp Polymorphism rs1132973 -
CAPRIN1 Q14444 VAR_042426 p.Gln588His Polymorphism rs12282627 -
CAPRIN1 Q14444 VAR_042427 p.Arg616His Polymorphism rs11552285 -
CAPRIN2 Q6IMN6 VAR_034939 p.Met519Val Polymorphism rs2304630 -
CAPRIN2 Q6IMN6 VAR_048445 p.Pro114Ser Polymorphism rs17688567 -
CAPRIN2 Q6IMN6 VAR_048446 p.Lys237Arg Polymorphism rs12146709 -
CAPRIN2 Q6IMN6 VAR_048447 p.Ser655Leu Polymorphism rs2304628 -
CAPS Q13938 VAR_048638 p.Arg39Gly Polymorphism rs7249419 -
CAPS2 Q9BXY5 VAR_061085 p.Leu125Phe Polymorphism rs10879901 -
CAPSL Q8WWF8 VAR_029631 p.Arg85Gln Polymorphism rs1445898 -
CAPSL Q8WWF8 VAR_029632 p.Met201Val Polymorphism rs1345826 -
CARD10 Q9BWT7 VAR_028116 p.Arg289Gln Polymorphism rs9610775 -
CARD11 Q9BXL7 VAR_028117 p.Thr670Met Polymorphism rs3735134 -
CARD11 Q9BXL7 VAR_028118 p.Ser694Leu Polymorphism rs3735133 -
CARD14 Q9BXL6 VAR_022043 p.Arg883His Polymorphism rs2289541 -
CARD14 Q9BXL6 VAR_024401 p.Arg547Ser Polymorphism rs2066964 -
CARD14 Q9BXL6 VAR_048608 p.Val585Ile Polymorphism rs34367357 -
CARD14 Q9BXL6 VAR_059196 p.Arg820Trp Polymorphism rs11652075 -
CARD14 Q9BXL6 VAR_061080 p.Arg962Gln Polymorphism rs34850974 -
CARD16 Q5EG05 VAR_046279 p.Arg33Ser Polymorphism rs35966314 -
CARD16 Q5EG05 VAR_046280 p.Gln37Lys Polymorphism rs1042744 -
CARD16 Q5EG05 VAR_046281 p.Ala56Asp Polymorphism rs34534919 -
CARD16 Q5EG05 VAR_046282 p.Asn167Ile Polymorphism rs542571 -
CARD6 Q9BX69 VAR_046689 p.Ser86Leu Polymorphism rs10512747 -
CARD6 Q9BX69 VAR_046690 p.Arg93Lys Polymorphism rs7715491 -
CARD6 Q9BX69 VAR_046691 p.Met395Lys Polymorphism rs3812030 -
CARD6 Q9BX69 VAR_046692 p.Asp426Val Polymorphism rs3812031 -
CARD6 Q9BX69 VAR_046693 p.Ala575Asp Polymorphism rs36085996 -
CARD6 Q9BX69 VAR_046694 p.Ile576Val Polymorphism rs323562 -
CARD8 Q9Y2G2 VAR_048606 p.Ile68Val Polymorphism rs11881179 -
CARD8 Q9Y2G2 VAR_061079 p.Glu99Ala Polymorphism rs59878320 -
CARD9 Q9H257 VAR_048607 p.Ser12Asn Polymorphism rs4077515 -
CARKD Q8IW45 VAR_043564 p.Lys140Glu Polymorphism rs3742191 -
CARKD Q8IW45 VAR_043565 p.Val149Ile Polymorphism rs3742192 -
CARKD Q8IW45 VAR_043566 p.Pro152Thr Polymorphism rs1044112 -
CARNS1 A5YM72 VAR_042625 p.Pro14Thr Polymorphism rs868167 -
CARNS1 A5YM72 VAR_060320 p.Met498Leu Polymorphism rs17853668 -
CARS2 Q9HA77 VAR_034523 p.Glu440Lys Polymorphism rs965189 -
CARS2 Q9HA77 VAR_034524 p.Gln555Pro Polymorphism rs1043886 -
CARTPT Q16568 VAR_012199 p.Leu61Phe Unclassified - -
CARTPT Q16568 VAR_012200 p.Ser66Thr Polymorphism - -
CARTPT Q16568 VAR_053022 p.Leu113Met Polymorphism rs12517689 -
CASC1 Q6TDU7 VAR_043008 p.Arg33Ser Polymorphism rs10842496 -
CASC1 Q6TDU7 VAR_062232 p.Ala633Glu Polymorphism rs859146 -
CASC2 Q6XLA1 VAR_039469 p.Pro8Ser Unclassified - Some patients with endometrial cancer
CASC5 Q8NG31 VAR_026428 p.Arg43Thr Polymorphism rs7177192 -
CASC5 Q8NG31 VAR_026429 p.Thr70Ala Polymorphism rs16970874 -
CASC5 Q8NG31 VAR_026430 p.Thr113Ala Polymorphism rs12911738 -
CASC5 Q8NG31 VAR_026431 p.Ala486Ser Polymorphism rs2412541 -
CASC5 Q8NG31 VAR_026432 p.Arg936Gly Polymorphism rs8040502 -
CASC5 Q8NG31 VAR_026433 p.Lys1285Glu Polymorphism rs17747633 -
CASC5 Q8NG31 VAR_026434 p.Thr1473Ala Polymorphism rs16970911 -
CASC5 Q8NG31 VAR_054342 p.Met598Thr Polymorphism rs11858113 -
CASC5 Q8NG31 VAR_061568 p.Met177Val Polymorphism rs35146555 -
CASC5 Q8NG31 VAR_061569 p.Leu1190Val Polymorphism rs58614880 -
CASC5 Q8NG31 VAR_061570 p.Cys2338Tyr Polymorphism rs61164860 -
CASD1 Q96PB1 VAR_035383 p.Arg386Ser Polymorphism rs17855797 -
CASK O14936 VAR_041956 p.Gly96Val Unclassified - A lung large cell carcinoma sample
CASK O14936 VAR_058719 p.Arg28Leu Disease - FG syndrome type 4 (FGS4) [MIM:300422]
CASK O14936 VAR_062996 p.Tyr268His Disease - Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]
CASK O14936 VAR_062997 p.Pro396Ser Disease - Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]
CASK O14936 VAR_062998 p.Asp710Gly Disease - Mental retardation X-linked CASK-related (MRXCASK) [MIM:300749]
CASKIN2 Q8WXE0 VAR_060244 p.Glu891Gly Polymorphism rs7503373 -
CASP1 P29466 VAR_048615 p.Arg15His Polymorphism rs1042743 -
CASP10 Q92851 VAR_014071 p.Leu285Phe Disease rs17860403 Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909]
CASP10 Q92851 VAR_014072 p.Val410Ile Polymorphism rs13010627 -
CASP10 Q92851 VAR_037428 p.Met147Thr Disease - Gastric cancer (GASC) [MIM:613659]
CASP10 Q92851 VAR_037429 p.Ile406Leu Disease - Autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909]
CASP10 Q92851 VAR_037430 p.Ala414Val Disease rs28936699 Familial non-Hodgkin lymphoma (NHL) [MIM:605027]
CASP10 Q92851 VAR_037431 p.Tyr446Cys Polymorphism rs17860405 -
CASP10 Q92851 VAR_055361 p.Ser239Cys Polymorphism rs41473647 -
CASP10 Q92851 VAR_055362 p.Pro444Ser Polymorphism rs41513147 -
CASP10 Q92851 VAR_065233 p.Lys14Thr Unclassified - -
CASP10 Q92851 VAR_065234 p.Arg21Cys Unclassified - -
CASP10 Q92851 VAR_065235 p.Leu285Pro Unclassified - -
CASP2 P42575 VAR_016334 p.Val172Leu Polymorphism rs4647297 -
CASP2 P42575 VAR_016335 p.Pro178Ala Polymorphism rs4647298 -
CASP2 P42575 VAR_016336 p.Arg441Gly Polymorphism rs4647338 -
CASP2 P42575 VAR_055621 p.Ala105Gly Polymorphism rs4647298 -
CASP3 P42574 VAR_001401 p.Glu190Asp Polymorphism rs1049210 -
CASP3 P42574 VAR_048616 p.His22Arg Polymorphism rs35578277 -
CASP4 P49662 VAR_061081 p.Asp47Asn Polymorphism rs56226603 -
CASP4 P49662 VAR_061082 p.Glu284Asp Polymorphism rs55901059 -
CASP5 P51878 VAR_024403 p.Phe29Leu Polymorphism rs3181320 -
CASP5 P51878 VAR_024404 p.Arg168His Polymorphism rs3181179 -
CASP5 P51878 VAR_024405 p.Val217Leu Polymorphism rs3181326 -
CASP5 P51878 VAR_047216 p.Lys19Asn Polymorphism rs45483102 -
CASP5 P51878 VAR_047217 p.Leu26Trp Polymorphism rs1792778 -
CASP5 P51878 VAR_047218 p.Thr106Ala Polymorphism rs507879 -
CASP5 P51878 VAR_047219 p.Leu334Val Polymorphism rs523104 -
CASP5 P51878 VAR_047220 p.Glu353Lys Polymorphism rs45619739 -
CASP5 P51878 VAR_054480 p.Leu75Arg Polymorphism - -
CASP5 P51878 VAR_054481 p.Arg298His Polymorphism - -
CASP5 P51878 VAR_054482 p.Glu382Gln Polymorphism rs45458695 -
CASP6 P55212 VAR_016130 p.Ala109Thr Polymorphism rs5030674 -
CASP6 P55212 VAR_020126 p.Thr182Ser Polymorphism rs5030593 -
CASP6 P55212 VAR_029242 p.Glu35Lys Polymorphism rs11574697 -
CASP7 P55210 VAR_048617 p.Asp4Glu Polymorphism rs11593766 -
CASP7 P55210 VAR_048618 p.Asp255Glu Polymorphism rs2227310 -
CASP8 Q14790 VAR_014204 p.Arg248Trp Disease rs17860424 Caspase-8 deficiency (CASP8D) [MIM:607271]
CASP8 Q14790 VAR_020127 p.Asp285His Polymorphism rs1045485 -
CASP8 Q14790 VAR_025816 p.Ser219Thr Polymorphism rs35976359 -
CASP8AP2 Q9UKL3 VAR_050700 p.Pro1659Ser Polymorphism rs3799896 -
CASP9 P55211 VAR_015415 p.Ala28Val Polymorphism rs1052571 -
CASP9 P55211 VAR_015416 p.Ser99Leu Polymorphism rs4646008 -
CASP9 P55211 VAR_015417 p.Thr102Ile Polymorphism rs2308941 -
CASP9 P55211 VAR_015418 p.Leu106Val Polymorphism rs2308938 -
CASP9 P55211 VAR_015419 p.Glu114Asp Polymorphism rs2020897 -
CASP9 P55211 VAR_015420 p.Arg173His Polymorphism rs2308950 -
CASP9 P55211 VAR_015421 p.Gln221Arg Polymorphism rs1052576 -
CASP9 P55211 VAR_016131 p.Gly176Arg Polymorphism rs2308949 -
CASP9 P55211 VAR_016132 p.Arg192Cys Polymorphism rs2308939 -
CASP9 P55211 VAR_022053 p.Ile185Met Polymorphism rs9282624 -
CASP9 P55211 VAR_059198 p.Phe136Leu Polymorphism rs1820204 -
CASQ1 P31415 VAR_053021 p.Tyr140Phe Polymorphism rs34489853 -
CASQ2 O14958 VAR_016075 p.Asp307His Disease - Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]
CASQ2 O14958 VAR_023692 p.Thr66Ala Polymorphism rs4074536 -
CASQ2 O14958 VAR_023693 p.Val76Met Polymorphism rs10801999 -
CASQ2 O14958 VAR_044118 p.Leu167His Disease - Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]
CASQ2 O14958 VAR_055234 p.Arg33Gln Disease - Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) [MIM:611938]
CASR P41180 VAR_003585 p.Pro39Ala Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_003586 p.Arg62Met Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_003586 p.Arg62Met Disease - Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
CASR P41180 VAR_003587 p.Arg66Cys Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_003588 p.Ala116Thr Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_003589 p.Glu127Ala Unclassified - -
CASR P41180 VAR_003590 p.Thr138Met Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_003591 p.Gly143Glu Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_003592 p.Leu174Arg Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_003593 p.Arg185Gln Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_003594 p.Arg227Leu Disease rs28936684 Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
CASR P41180 VAR_003595 p.Arg227Gln Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_003596 p.Glu297Lys Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_003596 p.Glu297Lys Disease - Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
CASR P41180 VAR_003597 p.Cys582Tyr Disease - Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
CASR P41180 VAR_003598 p.Gln681His Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_003599 p.Arg795Trp Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_003600 p.Phe806Ser Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_003601 p.Cys851Ser Polymorphism - -
CASR P41180 VAR_012649 p.Gly557Glu Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_014450 p.Ala986Ser Polymorphism rs1801725 -
CASR P41180 VAR_014451 p.Gln1011Glu Polymorphism rs1801726 -
CASR P41180 VAR_015414 p.Leu616Val Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_020220 p.Pro951Thr Polymorphism rs4987051 -
CASR P41180 VAR_020221 p.Arg990Gly Polymorphism rs1042636 -
CASR P41180 VAR_021019 p.Glu767Lys Unclassified - -
CASR P41180 VAR_058046 p.Leu11Ser Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_058047 p.Leu13Pro Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_058048 p.Thr14Ala Unclassified - -
CASR P41180 VAR_058049 p.Gly21Arg Unclassified - -
CASR P41180 VAR_058050 p.Lys47Asn Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058051 p.Asn118Lys Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058052 p.Leu125Pro Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058053 p.Phe128Leu Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058054 p.Cys131Trp Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058055 p.Thr151Met Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058056 p.Ser171Asn Unclassified - -
CASR P41180 VAR_058057 p.Phe180Cys Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_058058 p.Glu191Lys Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058059 p.Pro221Gln Unclassified - -
CASR P41180 VAR_058060 p.Lys225Thr Unclassified - -
CASR P41180 VAR_058061 p.Glu250Lys Unclassified - -
CASR P41180 VAR_058062 p.Ser271Phe Unclassified - -
CASR P41180 VAR_058063 p.Gly397Arg Unclassified - -
CASR P41180 VAR_058064 p.Arg465Gln Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_058065 p.Gly509Arg Unclassified - -
CASR P41180 VAR_058066 p.Gly553Arg Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_058067 p.Ile555Val Unclassified - -
CASR P41180 VAR_058068 p.Cys562Tyr Unclassified - -
CASR P41180 VAR_058069 p.Cys582Phe Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_058070 p.Glu604Lys Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058071 p.Phe612Ser Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058072 p.Gly623Asp Unclassified - -
CASR P41180 VAR_058073 p.Gly670Glu Disease - Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
CASR P41180 VAR_058074 p.Gly670Arg Unclassified - -
CASR P41180 VAR_058075 p.Leu727Gln Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058076 p.Val728Phe Unclassified - -
CASR P41180 VAR_058077 p.Trp742Arg Unclassified - -
CASR P41180 VAR_058078 p.Leu773Arg Unclassified - -
CASR P41180 VAR_058079 p.Phe788Cys Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058080 p.Phe788Leu Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058081 p.Ser820Phe Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058082 p.Ala843Glu Disease - Familial isolated hypoparathyroidism (FIH) [MIM:146200]
CASR P41180 VAR_058083 p.Phe881Leu Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASR P41180 VAR_058084 p.Arg886Trp Unclassified - -
CASR P41180 VAR_060206 p.Glu354Ala Disease - Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]
CASR P41180 VAR_060207 p.Ile686Val Disease - Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]
CASR P41180 VAR_060208 p.Arg898Gln Disease - Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]
CASR P41180 VAR_060209 p.Ala988Gly Disease - Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]
CASR P41180 VAR_060210 p.Ala988Val Disease - Idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]
CASR P41180 VAR_065198 p.Gln27Arg Unclassified - -
CASR P41180 VAR_065199 p.Thr100Ile Unclassified - -
CASR P41180 VAR_065201 p.Pro339Thr Unclassified - -
CASR P41180 VAR_065202 p.Leu650Pro Unclassified - -
CASR P41180 VAR_065203 p.Val689Met Unclassified - -
CASR P41180 VAR_065494 p.Val697Met Disease - Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
CASS4 Q9NQ75 VAR_054084 p.Arg491Lys Polymorphism rs16979936 -
CASS4 Q9NQ75 VAR_054085 p.Thr629Asn Polymorphism rs6069755 -
CASS4 Q9NQ75 VAR_054086 p.Pro660Ser Polymorphism rs35031530 -
CASS4 Q9NQ75 VAR_054087 p.Gln780His Polymorphism rs7272702 -
CAST P20810 VAR_005298 p.Glu592Gly Polymorphism - -
CAST P20810 VAR_022686 p.Cys408Ser Polymorphism rs754615 -
CAST P20810 VAR_030741 p.Glu380Lys Polymorphism rs1643702 -
CAST P20810 VAR_030742 p.Ala537Val Polymorphism rs4948 -
CATSPER1 Q8NEC5 VAR_033304 p.Gly133Ser Polymorphism rs1203998 -
CATSPER1 Q8NEC5 VAR_033305 p.Val652Ile Polymorphism rs3814747 -
CATSPER1 Q8NEC5 VAR_033306 p.Thr730Pro Polymorphism rs34958219 -
CATSPER2 Q96P56 VAR_033307 p.Glu8Gly Polymorphism rs2614835 -
CATSPER2 Q96P56 VAR_033308 p.Val57Ile Polymorphism rs8042868 -
CATSPER3 Q86XQ3 VAR_033309 p.Asn204Lys Polymorphism rs3896260 -
CATSPER4 Q7RTX7 VAR_033310 p.Gln77Arg Polymorphism rs11247866 -
CATSPER4 Q7RTX7 VAR_033311 p.Leu124Phe Polymorphism rs12138368 -
CATSPER4 Q7RTX7 VAR_033312 p.Ile293Val Polymorphism rs17257155 -
CATSPER4 Q7RTX7 VAR_033313 p.Asp436Asn Polymorphism rs6657616 -
CATSPERB Q9H7T0 VAR_061634 p.Phe318Tyr Polymorphism rs57706558 -
CATSPERG Q6ZRH7 VAR_059631 p.Leu29Pro Polymorphism rs2302182 -
CATSPERG Q6ZRH7 VAR_059632 p.Ser650Arg Polymorphism rs3745953 -
CATSPERG Q6ZRH7 VAR_059633 p.Met1137Thr Polymorphism rs2286550 -
CAV1 Q03135 VAR_015103 p.Pro132Leu Unclassified - Breast cancer
CAV2 P51636 VAR_012071 p.Gln130Glu Polymorphism rs8940 -
CAV3 P56539 VAR_001403 p.Pro105Leu Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
CAV3 P56539 VAR_001403 p.Pro105Leu Disease - Rippling muscle disease (RMD) [MIM:606072]
CAV3 P56539 VAR_010742 p.Val57Met Disease - HyperCKmia (HYPCK) [MIM:123320]
CAV3 P56539 VAR_010743 p.Cys72Trp Polymorphism - -
CAV3 P56539 VAR_011512 p.Arg27Gln Disease - HyperCKmia (HYPCK) [MIM:123320]
CAV3 P56539 VAR_011512 p.Arg27Gln Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
CAV3 P56539 VAR_011512 p.Arg27Gln Disease - Myopathy distal Tateyama type (MPDT) [MIM:614321]
CAV3 P56539 VAR_011512 p.Arg27Gln Disease - Rippling muscle disease (RMD) [MIM:606072]
CAV3 P56539 VAR_011513 p.Ala46Thr Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
CAV3 P56539 VAR_011513 p.Ala46Thr Disease - Rippling muscle disease (RMD) [MIM:606072]
CAV3 P56539 VAR_011514 p.Ala46Val Disease - Rippling muscle disease (RMD) [MIM:606072]
CAV3 P56539 VAR_015374 p.Asp28Glu Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
CAV3 P56539 VAR_015374 p.Asp28Glu Disease - Rippling muscle disease (RMD) [MIM:606072]
CAV3 P56539 VAR_016207 p.Leu87Pro Disease rs28936685 Rippling muscle disease (RMD) [MIM:606072]
CAV3 P56539 VAR_016208 p.Ala93Thr Disease rs28936686 Rippling muscle disease (RMD) [MIM:606072]
CAV3 P56539 VAR_021016 p.Asn33Lys Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
CAV3 P56539 VAR_021016 p.Asn33Lys Disease - Myopathy distal Tateyama type (MPDT) [MIM:614321]
CAV3 P56539 VAR_021017 p.Val44Glu Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
CAV3 P56539 VAR_021018 p.Thr64Pro Disease - Limb-girdle muscular dystrophy type 1C (LGMD1C) [MIM:607801]
CAV3 P56539 VAR_026696 p.Ser61Arg Unclassified - -
CAV3 P56539 VAR_029540 p.Pro29Leu Disease - HyperCKmia (HYPCK) [MIM:123320]
CAV3 P56539 VAR_029541 p.Ser53Gly Disease - Rippling muscle disease (RMD) [MIM:606072]
CAV3 P56539 VAR_029542 p.Gly56Ser Polymorphism - -
CAV3 P56539 VAR_029543 p.Thr64Ser Disease - Familial hypertrophic cardiomyopathy (CMH) [MIM:192600]
CAV3 P56539 VAR_029545 p.Arg126His Polymorphism - -
CAV3 P56539 VAR_043694 p.Val14Leu Disease - Sudden infant death syndrome (SIDS) [MIM:272120]
CAV3 P56539 VAR_043695 p.Thr78Met Disease - Long QT syndrome type 9 (LQT9) [MIM:611818]
CAV3 P56539 VAR_043695 p.Thr78Met Disease - Sudden infant death syndrome (SIDS) [MIM:272120]
CAV3 P56539 VAR_043696 p.Leu79Arg Disease - Long QT syndrome type 9 (LQT9) [MIM:611818]
CAV3 P56539 VAR_043696 p.Leu79Arg Disease - Sudden infant death syndrome (SIDS) [MIM:272120]
CAV3 P56539 VAR_043697 p.Ala85Thr Disease - Long QT syndrome type 9 (LQT9) [MIM:611818]
CAV3 P56539 VAR_043698 p.Phe97Cys Disease - Long QT syndrome type 9 (LQT9) [MIM:611818]
CAV3 P56539 VAR_043699 p.Ser141Arg Disease - Long QT syndrome type 9 (LQT9) [MIM:611818]
CBFA2T3 O75081 VAR_035374 p.Glu429Gly Polymorphism rs1053526 -
CBFA2T3 O75081 VAR_035447 p.Arg306His Unclassified - A colorectal cancer sample
CBFA2T3 O75081 VAR_035448 p.Glu518Lys Unclassified - A colorectal cancer sample
CBFA2T3 O75081 VAR_035449 p.Ala534Val Unclassified - A colorectal cancer sample
CBFB Q13951 VAR_036226 p.Pro100Ala Unclassified - A breast cancer sample
CBL P22681 VAR_057211 p.Leu620Phe Polymorphism rs2227988 -
CBL P22681 VAR_057212 p.Pro782Leu Polymorphism rs2229073 -
CBL P22681 VAR_057213 p.Val904Ile Polymorphism rs17122769 -
CBL P22681 VAR_064332 p.Gln367Pro Disease - Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
CBL P22681 VAR_064333 p.Lys382Glu Disease - Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
CBL P22681 VAR_064334 p.Asp390Tyr Disease - Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
CBL P22681 VAR_064335 p.Arg420Gln Disease - Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
CBLB Q13191 VAR_025303 p.Arg584Lys Polymorphism rs17853100 -
CBLB Q13191 VAR_039241 p.Asn883Asp Polymorphism rs35835913 -
CBLC Q9ULV8 VAR_018298 p.His405Tyr Polymorphism rs3208856 -
CBR1 P16152 VAR_031706 p.Pro131Ser Polymorphism rs41557318 -
CBR1 P16152 VAR_059053 p.Val88Ile Polymorphism rs1143663 -
CBR3 O75828 VAR_033868 p.Cys4Tyr Polymorphism rs8133052 -
CBR3 O75828 VAR_033869 p.Leu84Val Polymorphism rs9282628 -
CBR3 O75828 VAR_033870 p.Val93Ile Polymorphism rs2835285 -
CBR3 O75828 VAR_033871 p.Pro131Ser Polymorphism rs16993929 -
CBR3 O75828 VAR_033872 p.Met235Leu Polymorphism rs4987121 -
CBR3 O75828 VAR_033873 p.Val244Met Polymorphism rs1056892 -
CBR4 Q8N4T8 VAR_039049 p.Leu70Met Polymorphism rs2877380 -
CBS P35520 VAR_002171 p.Pro78Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002172 p.Pro88Ser Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002173 p.Lys102Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002174 p.Ala114Val Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002175 p.Arg125Gln Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002176 p.Glu131Asp Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002177 p.Glu144Lys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002178 p.Pro145Leu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002179 p.Cys165Tyr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002180 p.Val168Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002181 p.Arg224His Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002182 p.Glu239Lys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002183 p.Thr257Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002184 p.Ile278Thr Disease rs5742905 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002185 p.Pro290Leu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002186 p.Gly307Ser Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002187 p.Ala331Val Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002188 p.Arg336Cys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002189 p.Arg369His Disease rs11700812 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002190 p.Val371Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002191 p.Lys384Glu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002192 p.Asp444Asn Disease rs28934891 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002193 p.Val454Glu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_002194 p.Leu539Ser Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008049 p.Pro49Leu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008050 p.Arg58Trp Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008051 p.Gly85Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008052 p.Lys102Gln Disease rs34040148 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008053 p.Gly116Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008054 p.Arg121Cys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008055 p.Arg121His Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008056 p.Arg121Leu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008057 p.Arg125Trp Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008058 p.Met126Val Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008059 p.Glu128Asp Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008060 p.Gly139Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008061 p.Gly148Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008062 p.Gly151Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008064 p.Ile152Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008065 p.Ala155Thr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008066 p.Glu176Lys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008067 p.Val180Ala Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008068 p.Thr191Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008069 p.Asp198Val Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008070 p.Ala226Thr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008071 p.Asp234Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008072 p.Thr262Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008073 p.Arg266Gly Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008074 p.Arg266Lys Disease rs28934275 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008076 p.Glu302Lys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008077 p.Gly305Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008078 p.Val320Ala Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008079 p.Ala331Glu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008080 p.Arg336His Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008081 p.Ser352Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008082 p.Thr353Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008083 p.Val354Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008084 p.Arg369Cys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008085 p.Cys370Tyr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008086 p.Lys384Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008087 p.Met391Ile Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008088 p.Thr434Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008089 p.Ile435Thr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008090 p.Arg439Gln Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008091 p.Ser466Leu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008092 p.Arg491Cys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_008093 p.Val534Asp Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021790 p.His65Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021791 p.Leu101Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021792 p.Cys109Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021793 p.Ile143Met Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021794 p.Asn228Lys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021795 p.Thr262Arg Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021796 p.Cys275Tyr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021797 p.Leu338Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021798 p.Gly347Ser Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021799 p.Ser349Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021800 p.Ala355Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021801 p.Arg379Gln Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021802 p.Pro422Leu Disease rs28934892 Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_021803 p.Leu456Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046921 p.Arg18Cys Unclassified - -
CBS P35520 VAR_046922 p.Ala69Pro Polymorphism rs17849313 -
CBS P35520 VAR_046923 p.Arg125Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046924 p.Leu154Gln Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046925 p.Ala155Val Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046926 p.Val168Ala Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046927 p.Met173Val Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046928 p.Asn228Ser Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046929 p.Ala231Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046932 p.Ala288Pro Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046933 p.Ala288Thr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046934 p.Ala361Thr Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046935 p.Asp376Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046936 p.Arg379Trp Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046937 p.Gln526Lys Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_046938 p.Arg548Gln Unclassified - -
CBS P35520 VAR_066099 p.Pro200Leu Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_066100 p.Ile278Ser Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_066101 p.Asp281Asn Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_066102 p.Asp321Val Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBS P35520 VAR_066103 p.Ala446Ser Disease - Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
CBWD1 Q9BRT8 VAR_026979 p.Ala8Val Polymorphism rs16925054 -
CBX2 Q14781 VAR_063751 p.Pro98Leu Disease rs121908255 46,XY sex reversal type 5 (SRXY5) [MIM:613080]
CBX2 Q14781 VAR_063752 p.Arg443Pro Disease rs121908256 46,XY sex reversal type 5 (SRXY5) [MIM:613080]
CBX8 Q9HC52 VAR_014954 p.Gly317Val Polymorphism rs4889891 -
CC2D1A Q6P1N0 VAR_026670 p.Thr339Pro Polymorphism rs11883041 -
CC2D1A Q6P1N0 VAR_026671 p.Thr635Ser Polymorphism rs2290663 -
CC2D1A Q6P1N0 VAR_026672 p.Thr801Met Polymorphism rs2305777 -
CC2D1B Q5T0F9 VAR_062191 p.Met35Thr Polymorphism rs11555349 -
CC2D2A Q9P2K1 VAR_038489 p.Glu376Ala Polymorphism rs16892095 -
CC2D2A Q9P2K1 VAR_038490 p.Val660Ile Polymorphism rs16892134 -
CC2D2A Q9P2K1 VAR_055321 p.Gln1096His Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285]
CC2D2A Q9P2K1 VAR_055322 p.Pro1122Ser Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285]
CC2D2A Q9P2K1 VAR_055323 p.Arg1528Cys Disease - COACH syndrome (COACHS) [MIM:216360]
CC2D2A Q9P2K1 VAR_055323 p.Arg1528Cys Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285]
CC2D2A Q9P2K1 VAR_055324 p.Leu1551Pro Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285]
CC2D2A Q9P2K1 VAR_062293 p.Thr1114Met Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285]
CC2D2A Q9P2K1 VAR_062293 p.Thr1114Met Disease - Meckel syndrome type 6 (MKS6) [MIM:612284]
CC2D2A Q9P2K1 VAR_062804 p.Pro721Ser Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285]
CC2D2A Q9P2K1 VAR_062805 p.Lys800Glu Polymorphism - -
CC2D2A Q9P2K1 VAR_062806 p.Asp1556Val Disease - Joubert syndrome type 9 (JBTS9) [MIM:612285]
CC2D2A Q9P2K1 VAR_063804 p.Thr1116Met Disease - COACH syndrome (COACHS) [MIM:216360]
CC2D2B Q6DHV5 VAR_050697 p.Asn64Asp Polymorphism rs17383738 -
CC2D2B Q6DHV5 VAR_050698 p.Tyr237His Polymorphism rs9943393 -
CC2D2B Q6DHV5 VAR_050699 p.Gln322Leu Polymorphism rs1336459 -
CCAR1 Q8IX12 VAR_035497 p.Glu607Lys Unclassified - A colorectal cancer sample
CCAR1 Q8IX12 VAR_058330 p.Thr588Ile Polymorphism rs1782338 -
CCAR1 Q8IX12 VAR_058331 p.Glu681Gly Polymorphism rs1060145 -
CCAR1 Q8IX12 VAR_058332 p.Met747Val Polymorphism rs11542602 -
CCBE1 Q6UXH8 VAR_048971 p.Val193Gly Polymorphism rs11659589 -
CCBE1 Q6UXH8 VAR_063746 p.Cys75Ser Disease rs121908250 Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
CCBE1 Q6UXH8 VAR_063747 p.Cys102Ser Disease rs121908251 Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
CCBE1 Q6UXH8 VAR_063748 p.Arg158Cys Disease rs121908253 Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
CCBE1 Q6UXH8 VAR_063749 p.Cys174Arg Disease rs121908254 Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
CCBE1 Q6UXH8 VAR_063750 p.Gly327Arg Disease - Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
CCBL2 Q6YP21 VAR_032352 p.Ser206Pro Polymorphism rs1059370 -
CCBP2 O00590 VAR_024252 p.Tyr373Ser Polymorphism rs2228468 -
CCBP2 O00590 VAR_049379 p.Val41Ala Polymorphism rs2228467 -
CCBP2 O00590 VAR_049380 p.Ala248Val Polymorphism rs2228469 -
CCBP2 O00590 VAR_049381 p.Leu311Val Polymorphism rs6779520 -
CCDC102B Q68D86 VAR_022893 p.Cys346Phe Polymorphism rs745894 -
CCDC102B Q68D86 VAR_022894 p.Ala429Pro Polymorphism rs9963788 -
CCDC102B Q68D86 VAR_047331 p.Lys153Asn Polymorphism rs572020 -
CCDC102B Q68D86 VAR_047332 p.Lys298Arg Polymorphism rs2187094 -
CCDC102B Q68D86 VAR_047333 p.Glu370Gly Polymorphism rs34102373 -
CCDC102B Q68D86 VAR_047334 p.Asn425Lys Polymorphism rs17080065 -
CCDC104 Q96G28 VAR_030795 p.Asp243Gly Polymorphism rs1045910 -
CCDC104 Q96G28 VAR_030796 p.Ile246Phe Polymorphism rs1045920 -
CCDC104 Q96G28 VAR_050725 p.Glu6Asp Polymorphism rs34891804 -
CCDC105 Q8IYK2 VAR_030875 p.Asp434Glu Polymorphism rs17855585 -
CCDC105 Q8IYK2 VAR_030876 p.Ser444Thr Polymorphism rs8111625 -
CCDC105 Q8IYK2 VAR_030877 p.Pro499Thr Polymorphism rs8112667 -
CCDC105 Q8IYK2 VAR_056774 p.Val245Met Polymorphism rs35352238 -
CCDC105 Q8IYK2 VAR_056775 p.Met248Thr Polymorphism rs34375549 -
CCDC107 Q8WV48 VAR_031406 p.Ser190Phe Polymorphism rs2275420 -
CCDC107 Q8WV48 VAR_031407 p.Ile220Val Polymorphism rs1339374 -
CCDC107 Q8WV48 VAR_031408 p.Ser242Cys Polymorphism rs10441685 -
CCDC108 Q6ZU64 VAR_032500 p.Met66Leu Polymorphism rs6736922 -
CCDC108 Q6ZU64 VAR_050726 p.Val672Ile Polymorphism rs13403802 -
CCDC108 Q6ZU64 VAR_050727 p.Lys806Met Polymorphism rs9653262 -
CCDC108 Q6ZU64 VAR_050728 p.Asn1858Ser Polymorphism rs11893183 -
CCDC109B Q9NWR8 VAR_031443 p.Tyr253Phe Polymorphism rs13846 -
CCDC109B Q9NWR8 VAR_031444 p.Ile255Val Polymorphism rs1053680 -
CCDC109B Q9NWR8 VAR_060149 p.Ile63Asn Polymorphism rs4698744 -
CCDC11 Q96M91 VAR_050746 p.Arg231Cys Polymorphism rs12607385 -
CCDC11 Q96M91 VAR_050747 p.Glu294Lys Polymorphism rs35193847 -
CCDC110 Q8TBZ0 VAR_050729 p.Pro209Gln Polymorphism rs7699687 -
CCDC110 Q8TBZ0 VAR_050730 p.Leu299Met Polymorphism rs7698680 -
CCDC110 Q8TBZ0 VAR_050731 p.Leu382Met Polymorphism rs9999097 -
CCDC110 Q8TBZ0 VAR_050732 p.Ser409Phe Polymorphism rs11132306 -
CCDC110 Q8TBZ0 VAR_050733 p.Ile614Met Polymorphism rs35596415 -
CCDC110 Q8TBZ0 VAR_050734 p.Gln669Arg Polymorphism rs6827370 -
CCDC110 Q8TBZ0 VAR_050735 p.Ser817Leu Polymorphism rs9683564 -
CCDC110 Q8TBZ0 VAR_050736 p.Leu819Met Polymorphism rs34800518 -
CCDC110 Q8TBZ0 VAR_061577 p.Tyr500Asp Polymorphism rs59319722 -
CCDC111 Q96LW4 VAR_030878 p.Gln168Arg Polymorphism rs2463447 -
CCDC111 Q96LW4 VAR_030879 p.Thr505Lys Polymorphism rs14969 -
CCDC112 Q8NEF3 VAR_039147 p.His32Leu Polymorphism rs34457718 -
CCDC112 Q8NEF3 VAR_039148 p.Ser144Asn Polymorphism rs34056787 -
CCDC112 Q8NEF3 VAR_039149 p.Lys341Asn Polymorphism rs17856922 -
CCDC112 Q8NEF3 VAR_039150 p.Glu354Gly Polymorphism rs17852930 -
CCDC113 Q9H0I3 VAR_030880 p.Asp4Glu Polymorphism rs8043587 -
CCDC113 Q9H0I3 VAR_030881 p.Ser6Thr Polymorphism rs8043590 -
CCDC114 Q96M63 VAR_032501 p.Arg329His Polymorphism rs35361179 -
CCDC114 Q96M63 VAR_032502 p.Pro468Leu Polymorphism rs35461177 -
CCDC116 Q8IYX3 VAR_028803 p.Arg96Cys Polymorphism rs861854 -
CCDC116 Q8IYX3 VAR_028804 p.Gly121Arg Polymorphism rs371513 -
CCDC116 Q8IYX3 VAR_028805 p.Arg122Trp Polymorphism rs861853 -
CCDC116 Q8IYX3 VAR_028806 p.Arg199Trp Polymorphism rs12170285 -
CCDC116 Q8IYX3 VAR_028807 p.Ala436Thr Polymorphism rs11705259 -
CCDC116 Q8IYX3 VAR_061578 p.Pro293Leu Polymorphism rs41279987 -
CCDC117 Q8IWD4 VAR_028823 p.Arg147Ser Polymorphism rs13057011 -
CCDC117 Q8IWD4 VAR_028824 p.Ser272Asn Polymorphism rs9613680 -
CCDC122 Q5T0U0 VAR_061579 p.Ile269Thr Polymorphism rs9567280 -
CCDC124 Q96CT7 VAR_053809 p.Glu138Gln Polymorphism rs8104153 -
CCDC125 Q86Z20 VAR_032505 p.Val13Met Polymorphism rs10471774 -
CCDC127 Q96BQ5 VAR_050737 p.Arg60His Polymorphism rs11557427 -
CCDC129 Q6ZRS4 VAR_033660 p.Ala32Asp Polymorphism rs7811042 -
CCDC129 Q6ZRS4 VAR_033661 p.Ala490Val Polymorphism rs4141001 -
CCDC129 Q6ZRS4 VAR_033662 p.Cys809Tyr Polymorphism rs10247620 -
CCDC129 Q6ZRS4 VAR_033663 p.His887Tyr Polymorphism rs7799540 -
CCDC129 Q6ZRS4 VAR_035496 p.Leu105Val Unclassified - A colorectal cancer sample
CCDC129 Q6ZRS4 VAR_063505 p.His377Arg Polymorphism rs10252720 -
CCDC13 Q8IYE1 VAR_033664 p.Ser547Thr Polymorphism rs12495805 -
CCDC13 Q8IYE1 VAR_055093 p.Arg25Trp Polymorphism rs17238798 -
CCDC13 Q8IYE1 VAR_055094 p.Glu375Val Polymorphism rs17853515 -
CCDC130 P13994 VAR_053854 p.Ser22Cys Polymorphism rs12974461 -
CCDC130 P13994 VAR_053855 p.Cys336Ser Polymorphism rs35761244 -
CCDC135 Q8IY82 VAR_030898 p.Cys186Ser Polymorphism rs7196016 -
CCDC135 Q8IY82 VAR_030899 p.Pro433Leu Polymorphism rs3809611 -
CCDC135 Q8IY82 VAR_030900 p.Asn581Lys Polymorphism rs2923144 -
CCDC135 Q8IY82 VAR_030901 p.Cys766Arg Polymorphism rs2923147 -
CCDC135 Q8IY82 VAR_050738 p.Leu120Met Polymorphism rs11649000 -
CCDC135 Q8IY82 VAR_055286 p.Pro521His Polymorphism rs17853687 -
CCDC135 Q8IY82 VAR_061580 p.Asp51Asn Polymorphism rs55645458 -
CCDC135 Q8IY82 VAR_061581 p.Val241Glu Polymorphism rs58373934 -
CCDC136 Q96JN2 VAR_034880 p.Asp218His Polymorphism rs3816887 -
CCDC136 Q96JN2 VAR_034881 p.Gln1049Glu Polymorphism rs4728137 -
CCDC137 Q6PK04 VAR_050739 p.His127Gln Polymorphism rs7226091 -
CCDC137 Q6PK04 VAR_050740 p.Arg177Trp Polymorphism rs11150805 -
CCDC137 Q6PK04 VAR_050741 p.Arg229Gln Polymorphism rs11546630 -
CCDC137 Q6PK04 VAR_061582 p.Arg282Trp Polymorphism rs11546631 -
CCDC138 Q96M89 VAR_032420 p.Asp99Tyr Polymorphism rs35794776 -
CCDC138 Q96M89 VAR_032421 p.Arg115Lys Polymorphism rs6740879 -
CCDC14 Q49A88 VAR_043116 p.Thr365Pro Polymorphism rs17310144 -
CCDC141 Q6ZP82 VAR_047904 p.Arg253Trp Polymorphism rs12988301 -
CCDC141 Q6ZP82 VAR_047905 p.Arg360Trp Polymorphism rs17362588 -
CCDC141 Q6ZP82 VAR_047906 p.Asn595Ser Polymorphism rs13419085 -
CCDC142 Q17RM4 VAR_037210 p.Arg534Gln Polymorphism rs13385919 -
CCDC144NL Q6NUI1 VAR_045892 p.Gly82Asp Polymorphism rs7216787 -
CCDC146 Q8IYE0 VAR_050742 p.Asn345Ser Polymorphism rs1109968 -
CCDC146 Q8IYE0 VAR_061583 p.Glu263Gln Polymorphism rs17853516 -
CCDC146 Q8IYE0 VAR_061584 p.Ile466Thr Polymorphism rs58545343 -
CCDC147 Q5T655 VAR_030255 p.Ser496Thr Polymorphism rs11192036 -
CCDC147 Q5T655 VAR_030256 p.Gln804His Polymorphism rs7087328 -
CCDC148 Q8NFR7 VAR_039982 p.Gln75Arg Polymorphism rs4664950 -
CCDC148 Q8NFR7 VAR_039983 p.Met157Val Polymorphism rs12620556 -
CCDC148 Q8NFR7 VAR_039984 p.Lys329Arg Polymorphism rs7559772 -
CCDC15 Q0P6D6 VAR_050748 p.Gly529Asp Polymorphism rs4936966 -
CCDC15 Q0P6D6 VAR_050749 p.Cys813Arg Polymorphism rs7107487 -
CCDC150 Q8NCX0 VAR_042600 p.Glu156Lys Polymorphism rs34133636 -
CCDC151 A5D8V7 VAR_050743 p.Arg545Pro Polymorphism rs34619515 -
CCDC152 Q4G0S7 VAR_059596 p.Arg251His Polymorphism rs6879044 -
CCDC153 Q494R4 VAR_044322 p.Arg101His Polymorphism rs2301574 -
CCDC155 Q8N6L0 VAR_059597 p.Leu116Pro Polymorphism rs8102582 -
CCDC155 Q8N6L0 VAR_059598 p.Arg129Gln Polymorphism rs10405154 -
CCDC157 Q569K6 VAR_038999 p.Pro191Leu Polymorphism rs12167903 -
CCDC157 Q569K6 VAR_039000 p.Ser587Ala Polymorphism rs2015035 -
CCDC157 Q569K6 VAR_060124 p.Asp51Asn Polymorphism rs740223 -
CCDC158 Q5M9N0 VAR_039909 p.Glu232Asp Polymorphism rs17001889 -
CCDC158 Q5M9N0 VAR_039910 p.Ile297Val Polymorphism rs17001885 -
CCDC159 P0C7I6 VAR_043032 p.Cys393Ser Polymorphism rs6887 -
CCDC162P A2VCL2 VAR_035404 p.Ile84Thr Polymorphism rs6927569 -
CCDC164 Q96MC2 VAR_030625 p.Lys357Glu Polymorphism rs3795958 -
CCDC164 Q96MC2 VAR_030626 p.Trp399Arg Polymorphism rs939820 -
CCDC164 Q96MC2 VAR_030627 p.Val633Phe Polymorphism rs12623642 -
CCDC164 Q96MC2 VAR_030628 p.Ser702Ile Polymorphism rs3172008 -
CCDC164 Q96MC2 VAR_057758 p.Val734Met Polymorphism rs35313480 -
CCDC165 Q9Y4B5 VAR_031073 p.Gln852Arg Polymorphism rs1965665 -
CCDC165 Q9Y4B5 VAR_031074 p.Asp889Gly Polymorphism rs3744979 -
CCDC165 Q9Y4B5 VAR_031075 p.Gly1088Ser Polymorphism rs12386117 -
CCDC165 Q9Y4B5 VAR_031076 p.Lys1202Gln Polymorphism rs11874468 -
CCDC165 Q9Y4B5 VAR_055942 p.Met593Thr Polymorphism rs35739383 -
CCDC168 Q8NDH2 VAR_044210 p.Pro30Ser Polymorphism rs11843669 -
CCDC168 Q8NDH2 VAR_044211 p.Met94Val Polymorphism rs17592459 -
CCDC168 Q8NDH2 VAR_044212 p.Gly264Ser Polymorphism rs9518825 -
CCDC168 Q8NDH2 VAR_044213 p.Ser314Pro Polymorphism rs9300758 -
CCDC168 Q8NDH2 VAR_044214 p.Leu347Pro Polymorphism rs9300757 -
CCDC168 Q8NDH2 VAR_044215 p.Gly382Ala Polymorphism rs17507841 -
CCDC168 Q8NDH2 VAR_044216 p.Arg1015Thr Polymorphism rs7982465 -
CCDC168 Q8NDH2 VAR_044217 p.Asn1121Ser Polymorphism rs7983175 -
CCDC168 Q8NDH2 VAR_044218 p.Arg1209Gln Polymorphism rs17592438 -
CCDC168 Q8NDH2 VAR_044219 p.Phe1287Leu Polymorphism rs7335290 -
CCDC168 Q8NDH2 VAR_044220 p.Leu1382Pro Polymorphism rs6491707 -
CCDC168 Q8NDH2 VAR_044221 p.Arg1446Cys Polymorphism rs9300756 -
CCDC168 Q8NDH2 VAR_044222 p.Thr1483Met Polymorphism rs17507827 -
CCDC168 Q8NDH2 VAR_044223 p.Glu1879Ala Polymorphism rs9514051 -
CCDC168 Q8NDH2 VAR_044224 p.Lys1915Glu Polymorphism rs9554897 -
CCDC169 A6NNP5 VAR_057811 p.Lys120Arg Polymorphism rs9546897 -
CCDC17 Q96LX7 VAR_034976 p.Pro353Leu Polymorphism rs3014242 -
CCDC17 Q96LX7 VAR_034977 p.Ile557Val Polymorphism rs2297654 -
CCDC17 Q96LX7 VAR_059599 p.Val470Ile Polymorphism rs17410855 -
CCDC17 Q96LX7 VAR_063516 p.Ser580Asn Polymorphism rs3014246 -
CCDC19 Q9UL16 VAR_059600 p.Glu291Gly Polymorphism rs16842789 -
CCDC22 O60826 VAR_065912 p.Thr17Ala Unclassified - -
CCDC27 Q2M243 VAR_026159 p.Gln54Glu Polymorphism rs10910021 -
CCDC27 Q2M243 VAR_026160 p.Met267Thr Polymorphism rs1181883 -
CCDC27 Q2M243 VAR_026161 p.Thr353Met Polymorphism rs10910024 -
CCDC27 Q2M243 VAR_056777 p.Pro390Leu Polymorphism rs11806371 -
CCDC28A Q8IWP9 VAR_050744 p.Ser42Tyr Polymorphism rs34538642 -
CCDC28A Q8IWP9 VAR_050745 p.Pro82Leu Polymorphism rs2273510 -
CCDC28B Q9BUN5 VAR_056776 p.Arg25Trp Polymorphism rs1407134 -
CCDC30 Q5VVM6 VAR_043472 p.His772Asn Polymorphism rs16829829 -
CCDC33 Q8N5R6 VAR_036625 p.Ser683Asn Polymorphism rs1564782 -
CCDC33 Q8N5R6 VAR_045602 p.Met635Val Polymorphism rs2277603 -
CCDC33 Q8N5R6 VAR_045603 p.Arg640Leu Polymorphism rs2277604 -
CCDC33 Q8N5R6 VAR_045604 p.Ser940Tyr Polymorphism rs4887136 -
CCDC34 Q96HJ3 VAR_043866 p.Pro53Ser Polymorphism rs11549824 -
CCDC34 Q96HJ3 VAR_043867 p.Glu264Ala Polymorphism rs17244028 -
CCDC34 Q96HJ3 VAR_043868 p.Ile319Val Polymorphism rs16925453 -
CCDC34 Q96HJ3 VAR_050750 p.His192Asn Polymorphism rs12364852 -
CCDC36 Q8IYA8 VAR_035002 p.Asp440Glu Polymorphism rs13068038 -
CCDC38 Q502W7 VAR_056778 p.Val36Phe Polymorphism rs12368787 -
CCDC38 Q502W7 VAR_056779 p.Met227Val Polymorphism rs10859974 -
CCDC40 Q4G0X9 VAR_035193 p.Ala8Pro Polymorphism rs2289530 -
CCDC41 Q9Y592 VAR_058397 p.Gln70Arg Polymorphism rs2271979 -
CCDC42 Q96M95 VAR_026282 p.Ala144Thr Polymorphism rs2288156 -
CCDC42 Q96M95 VAR_057786 p.Thr51Pro Polymorphism rs12952995 -
CCDC42 Q96M95 VAR_057787 p.Arg75Cys Polymorphism rs9893451 -
CCDC48 Q9HA90 VAR_050753 p.Arg528Gln Polymorphism rs3732430 -
CCDC50 Q8IVM0 VAR_050754 p.Leu121Phe Polymorphism rs35380043 -
CCDC50 Q8IVM0 VAR_050755 p.Met156Thr Polymorphism rs293813 -
CCDC51 Q96ER9 VAR_032515 p.Phe360Ser Polymorphism rs7618609 -
CCDC54 Q8NEL0 VAR_032151 p.Arg38Gln Polymorphism rs709564 -
CCDC57 Q2TAC2 VAR_032516 p.Glu237Gln Polymorphism rs34543170 -
CCDC57 Q2TAC2 VAR_032517 p.Gln321Arg Polymorphism rs7406116 -
CCDC57 Q2TAC2 VAR_032518 p.Val480Met Polymorphism rs7209474 -
CCDC57 Q2TAC2 VAR_032519 p.Arg775Gly Polymorphism rs4625783 -
CCDC57 Q2TAC2 VAR_032520 p.Asp777Asn Polymorphism rs7406163 -
CCDC57 Q2TAC2 VAR_032521 p.Ala778Thr Polymorphism rs7406162 -
CCDC57 Q2TAC2 VAR_032522 p.Gln811Lys Polymorphism rs7213172 -
CCDC57 Q2TAC2 VAR_032523 p.Met834Thr Polymorphism rs11077969 -
CCDC6 Q16204 VAR_062971 p.Pro470Thr Polymorphism rs1053266 -
CCDC60 Q8IWA6 VAR_033667 p.Ile46Val Polymorphism rs1064319 -
CCDC60 Q8IWA6 VAR_033668 p.Thr115Ala Polymorphism rs2519540 -
CCDC60 Q8IWA6 VAR_033669 p.Val393Ile Polymorphism rs16949292 -
CCDC62 Q6P9F0 VAR_026715 p.Thr394Lys Polymorphism rs17855031 -
CCDC62 Q6P9F0 VAR_035498 p.Gln31Glu Unclassified - A colorectal cancer sample
CCDC62 Q6P9F0 VAR_061585 p.Thr141Met Polymorphism rs58131754 -
CCDC63 Q8NA47 VAR_050758 p.Leu212Ser Polymorphism rs12371434 -
CCDC64B A1A5D9 VAR_034978 p.Gln273Arg Polymorphism rs2244494 -
CCDC64B A1A5D9 VAR_060543 p.Gln55Glu Polymorphism rs7204908 -
CCDC65 Q8IXS2 VAR_056780 p.His133Arg Polymorphism rs10747556 -
CCDC65 Q8IXS2 VAR_056781 p.Tyr408Cys Polymorphism rs4760600 -
CCDC66 A2RUB6 VAR_039111 p.Gln383Arg Polymorphism rs1491170 -
CCDC66 A2RUB6 VAR_039112 p.Arg460Gln Polymorphism rs7637449 -
CCDC66 A2RUB6 VAR_039113 p.Glu592Lys Polymorphism rs4681904 -
CCDC67 Q05D60 VAR_050759 p.Ser175Phe Polymorphism rs34205920 -
CCDC67 Q05D60 VAR_050760 p.Glu440Gln Polymorphism rs12288277 -
CCDC67 Q05D60 VAR_050761 p.Gln504Lys Polymorphism rs2259633 -
CCDC67 Q05D60 VAR_059601 p.Glu440Gly Polymorphism rs12282288 -
CCDC68 Q9H2F9 VAR_050762 p.Val249Ala Polymorphism rs34751112 -
CCDC69 A6NI79 VAR_042584 p.Arg197Lys Polymorphism rs248427 -
CCDC7 Q96M83 VAR_050766 p.Lys449Thr Polymorphism rs12268559 -
CCDC7 Q96M83 VAR_061586 p.Lys148Gln Polymorphism rs56391924 -
CCDC70 Q6NSX1 VAR_026238 p.Ile206Val Polymorphism rs1054515 -
CCDC70 Q6NSX1 VAR_050763 p.Arg126Cys Polymorphism rs17076052 -
CCDC71 Q8IV32 VAR_026236 p.Gln317Leu Polymorphism rs4955419 -
CCDC71 Q8IV32 VAR_026237 p.Trp339Arg Polymorphism rs4955418 -
CCDC74A Q96AQ1 VAR_030268 p.Gly302Arg Polymorphism rs13660 -
CCDC74B Q96LY2 VAR_030269 p.Thr169Met Polymorphism rs2599971 -
CCDC74B Q96LY2 VAR_030270 p.Arg346His Polymorphism rs3177472 -
CCDC76 Q9NUP7 VAR_057806 p.Ala48Val Polymorphism rs687513 -
CCDC77 Q9BR77 VAR_029838 p.Ser25Arg Polymorphism rs4980895 -
CCDC77 Q9BR77 VAR_029839 p.Met335Thr Polymorphism rs735295 -
CCDC78 A2IDD5 VAR_032867 p.Trp252Arg Polymorphism rs2071950 -
CCDC8 Q9H0W5 VAR_020272 p.Lys507Asn Polymorphism rs2279517 -
CCDC8 Q9H0W5 VAR_061587 p.Gly296Arg Polymorphism rs11880658 -
CCDC8 Q9H0W5 VAR_061588 p.His383Tyr Polymorphism rs34186470 -
CCDC81 Q6ZN84 VAR_032524 p.Tyr449Cys Polymorphism rs3741005 -
CCDC82 Q8N4S0 VAR_026164 p.Gln149Glu Polymorphism rs17851661 -
CCDC82 Q8N4S0 VAR_026165 p.Gln327Arg Polymorphism rs10831519 -
CCDC82 Q8N4S0 VAR_050764 p.Lys128Arg Polymorphism rs3748261 -
CCDC83 Q8IWF9 VAR_032525 p.Thr49Ala Polymorphism rs12362209 -
CCDC84 Q86UT8 VAR_029848 p.Trp244Gly Polymorphism rs600648 -
CCDC86 Q9H6F5 VAR_032069 p.Gln153His Polymorphism rs2074421 -
CCDC87 Q9NVE4 VAR_033224 p.Phe217Leu Polymorphism rs17853294 -
CCDC87 Q9NVE4 VAR_056782 p.Ala156Thr Polymorphism rs1110707 -
CCDC88B A6NC98 VAR_038523 p.Asp193Glu Polymorphism rs647152 -
CCDC88B A6NC98 VAR_038524 p.Trp639Arg Polymorphism rs685870 -
CCDC88B A6NC98 VAR_038525 p.Asp886Ala Polymorphism rs1318165 -
CCDC88C Q9P219 VAR_046613 p.Ala811Glu Polymorphism rs17127223 -
CCDC88C Q9P219 VAR_046614 p.Ala1028Val Polymorphism rs1970911 -
CCDC88C Q9P219 VAR_046615 p.Leu1992Pro Polymorphism rs941920 -
CCDC88C Q9P219 VAR_057777 p.Leu637Val Polymorphism rs7160308 -
CCDC9 Q9Y3X0 VAR_033670 p.Glu215Asp Polymorphism rs2032811 -
CCDC9 Q9Y3X0 VAR_033671 p.Ala456Val Polymorphism rs35119724 -
CCDC9 Q9Y3X0 VAR_050767 p.Leu478Pro Polymorphism rs888836 -
CCDC90A Q96AQ8 VAR_033320 p.Ser108Gly Polymorphism rs1204145 -
CCDC90A Q96AQ8 VAR_033321 p.Thr216Ala Polymorphism rs3180196 -
CCDC90B Q9GZT6 VAR_033322 p.Phe10Leu Polymorphism rs494791 -
CCDC91 Q7Z6B0 VAR_021531 p.Met261Val Polymorphism rs1133028 -
CCDC91 Q7Z6B0 VAR_021532 p.Val314Met Polymorphism rs10771427 -
CCDC92 Q53HC0 VAR_030301 p.Ser70Cys Polymorphism rs11057401 -
CCDC92 Q53HC0 VAR_030302 p.Arg281His Polymorphism rs17886730 -
CCDC92 Q53HC0 VAR_050765 p.Ala253Thr Polymorphism rs35935939 -
CCDC93 Q567U6 VAR_035499 p.His315Arg Unclassified - A colorectal cancer sample
CCDC93 Q567U6 VAR_054108 p.Arg179Cys Polymorphism rs33975708 -
CCDC93 Q567U6 VAR_054109 p.Arg213Cys Polymorphism rs34095554 -
CCDC93 Q567U6 VAR_054110 p.Pro228Leu Polymorphism rs17512204 -
CCDC93 Q567U6 VAR_054111 p.Tyr465His Polymorphism rs17047557 -
CCDC96 Q2M329 VAR_026162 p.Glu96Lys Polymorphism rs871134 -
CCDC99 Q96EA4 VAR_030307 p.Tyr508His Polymorphism rs3797713 -
CCDC99 Q96EA4 VAR_030308 p.Leu586Ser Polymorphism rs3777084 -
CCHCR1 Q8TD31 VAR_017761 p.Arg102Gln Polymorphism rs130075 -
CCHCR1 Q8TD31 VAR_017762 p.Arg103Trp Polymorphism rs130065 -
CCHCR1 Q8TD31 VAR_017763 p.Arg109Trp Polymorphism rs130076 -
CCHCR1 Q8TD31 VAR_017764 p.Ser164Arg Polymorphism rs130066 -
CCHCR1 Q8TD31 VAR_017765 p.Glu275Asp Polymorphism rs130067 -
CCHCR1 Q8TD31 VAR_017766 p.Arg417Trp Polymorphism rs130068 -
CCHCR1 Q8TD31 VAR_017767 p.Arg417Gln Polymorphism rs130069 -
CCHCR1 Q8TD31 VAR_017768 p.Lys546Arg Polymorphism rs2073720 -
CCHCR1 Q8TD31 VAR_017769 p.Gly575Cys Polymorphism rs130079 -
CCHCR1 Q8TD31 VAR_017770 p.Arg627Gln Polymorphism rs130072 -
CCHCR1 Q8TD31 VAR_017771 p.Gln639His Polymorphism rs130074 -
CCHCR1 Q8TD31 VAR_017772 p.Ser776Cys Polymorphism rs1576 -
CCHCR1 Q8TD31 VAR_017782 p.Leu179Gln Polymorphism rs11540822 -
CCHCR1 Q8TD31 VAR_017783 p.Ala367Thr Polymorphism rs2027937 -
CCHCR1 Q8TD31 VAR_017784 p.Ala733Val Polymorphism - -
CCIN Q13939 VAR_050039 p.Ser75Asn Polymorphism rs34789048 -
CCK P06307 VAR_018818 p.Gly32Glu Polymorphism rs11571848 -
CCK P06307 VAR_024452 p.Arg95Trp Polymorphism rs3774395 -
CCKBR P32239 VAR_014684 p.Leu37Phe Polymorphism rs1805000 -
CCKBR P32239 VAR_014685 p.Val125Ile Polymorphism rs1805002 -
CCKBR P32239 VAR_014686 p.Arg215His Polymorphism rs1805004 -
CCKBR P32239 VAR_014687 p.Arg319Gln Polymorphism rs1805001 -
CCKBR P32239 VAR_049388 p.Val77Gly Polymorphism rs35816985 -
CCL11 P51671 VAR_001634 p.Leu7Pro Unclassified - -
CCL11 P51671 VAR_001635 p.Ala23Thr Polymorphism rs1129844 -
CCL11 P51671 VAR_001636 p.Arg51Ser Unclassified - -
CCL11 P51671 VAR_001637 p.Lys79Arg Unclassified - -
CCL11 P51671 VAR_048705 p.Lys86Thr Polymorphism rs34262946 -
CCL13 Q99616 VAR_024169 p.Ala5Ser Polymorphism rs3136677 -
CCL13 Q99616 VAR_048706 p.Asn29Ser Polymorphism rs34566308 -
CCL14 Q16627 VAR_048707 p.Lys61Glu Polymorphism rs16971802 -
CCL15 Q16663 VAR_011640 p.Ile24Thr Polymorphism rs854625 -
CCL17 Q92583 VAR_048708 p.Lys5Asn Polymorphism rs34693308 -
CCL17 Q92583 VAR_048709 p.Val67Met Polymorphism rs34379253 -
CCL20 P78556 VAR_011915 p.Val47Met Polymorphism rs1049617 -
CCL22 O00626 VAR_055117 p.Asp2Ala Polymorphism rs4359426 -
CCL23 P55773 VAR_011916 p.Val106Met Polymorphism rs1003645 -
CCL24 O00175 VAR_018404 p.Ile29Leu Polymorphism rs2302006 -
CCL24 O00175 VAR_048710 p.Ser31Phe Polymorphism rs11465293 -
CCL24 O00175 VAR_048711 p.Ala102Thr Polymorphism rs11465312 -
CCL24 O00175 VAR_048712 p.Gln110Glu Polymorphism rs11465313 -
CCL25 O15444 VAR_044519 p.Thr23Ala Polymorphism rs960173 -
CCL25 O15444 VAR_044520 p.His101Arg Polymorphism rs2032887 -
CCL25 O15444 VAR_044521 p.Thr104Met Polymorphism rs1129763 -
CCL26 Q9Y258 VAR_029192 p.Leu18Arg Polymorphism rs11465333 -
CCL27 Q9Y4X3 VAR_022103 p.Ile78Val Polymorphism rs11575594 -
CCL27 Q9Y4X3 VAR_022104 p.Leu96Phe Polymorphism rs11575584 -
CCL3 P10147 VAR_048701 p.Glu78Asp Polymorphism rs34171309 -
CCL4 P13236 VAR_048702 p.Met12Val Polymorphism rs9635771 -
CCL4 P13236 VAR_048703 p.Pro20Leu Polymorphism rs1130750 -
CCL4 P13236 VAR_059211 p.Ser80Thr Polymorphism rs1719152 -
CCL5 P13501 VAR_043043 p.Ser24Phe Polymorphism - -
CCL8 P80075 VAR_001633 p.Lys69Gln Polymorphism rs1133763 -
CCL8 P80075 VAR_048704 p.Ala14Val Polymorphism rs35401229 -
CCM2 Q9BSQ5 VAR_023575 p.Val53Ile Polymorphism rs2107732 -
CCM2 Q9BSQ5 VAR_023576 p.Val120Ile Polymorphism rs11552377 -
CCM2 Q9BSQ5 VAR_023577 p.Leu198Arg Disease - Cerebral cavernous malformations type 2 (CCM2) [MIM:603284]
CCM2 Q9BSQ5 VAR_050768 p.Ser289Asn Polymorphism rs2289366 -
CCNA2 P20248 VAR_018819 p.Ile163Val Polymorphism rs769242 -
CCNB2 O95067 VAR_022221 p.Met100Thr Polymorphism rs16941036 -
CCNB2 O95067 VAR_022222 p.Ile395Thr Polymorphism rs28383563 -
CCNB2 O95067 VAR_053052 p.Val135Ile Polymorphism rs2306785 -
CCNB3 Q8WWL7 VAR_036580 p.Lys597Thr Unclassified - A colorectal cancer sample
CCNB3 Q8WWL7 VAR_047027 p.Gly1001Arg Polymorphism rs6614336 -
CCND2 P30279 VAR_018820 p.Gly268Arg Polymorphism rs3217921 -
CCND3 P30281 VAR_014205 p.Ser259Ala Polymorphism rs1051130 -
CCND3 P30281 VAR_020412 p.Pro134Ser Polymorphism rs3218089 -
CCND3 P30281 VAR_033726 p.Glu253Asp Polymorphism rs33966734 -
CCNE2 O96020 VAR_021347 p.Asn387Ser Polymorphism rs28399585 -
CCNG1 P51959 VAR_021079 p.Asn178His Polymorphism rs2069352 -
CCNG1 P51959 VAR_021080 p.Phe179Leu Polymorphism rs11541970 -
CCNG2 Q16589 VAR_014333 p.Leu4Val Polymorphism rs4150050 -
CCNG2 Q16589 VAR_014334 p.Glu28Gly Polymorphism rs4150051 -
CCNH P51946 VAR_013067 p.Arg28Leu Polymorphism rs2234942 -
CCNH P51946 VAR_013068 p.Met54Val Polymorphism rs3093785 -
CCNH P51946 VAR_013069 p.Lys138Arg Polymorphism rs2266691 -
CCNH P51946 VAR_013070 p.Val270Ala Polymorphism rs2230641 -
CCNI Q14094 VAR_016312 p.Val207Ile Polymorphism rs4252903 -
CCNI2 Q6ZMN8 VAR_043471 p.Ala91Pro Polymorphism rs803056 -
CCNJL Q8IV13 VAR_053053 p.His234Tyr Polymorphism rs13362036 -
CCNO P22674 VAR_029081 p.Leu161Met Polymorphism rs13169396 -
CCNT1 O60563 VAR_053054 p.His362Arg Polymorphism rs17123261 -
CCNYL2 Q5T2Q4 VAR_037297 p.Val57Glu Polymorphism rs2490085 -
CCNYL2 Q5T2Q4 VAR_037298 p.Arg176Gln Polymorphism rs2489720 -
CCNYL2 Q5T2Q4 VAR_037299 p.Ile288Val Polymorphism rs2505861 -
CCP110 O43303 VAR_019823 p.Ile252Met Polymorphism rs226891 -
CCP110 O43303 VAR_019824 p.Met375Ile Polymorphism rs7190666 -
CCP110 O43303 VAR_056788 p.Arg69Ser Polymorphism rs16972129 -
CCP110 O43303 VAR_056789 p.Pro171Leu Polymorphism rs3751821 -
CCP110 O43303 VAR_056790 p.Phe347Ile Polymorphism rs11645625 -
CCPG1 Q9ULG6 VAR_037063 p.Ser44Pro Polymorphism rs11555304 -
CCPG1 Q9ULG6 VAR_037064 p.Glu161Val Polymorphism rs17853336 -
CCPG1 Q9ULG6 VAR_037065 p.Tyr418His Polymorphism rs34958422 -
CCPG1 Q9ULG6 VAR_037066 p.Arg436Leu Polymorphism rs17857026 -
CCPG1 Q9ULG6 VAR_037067 p.Ala477Val Polymorphism rs1063562 -
CCPG1 Q9ULG6 VAR_037068 p.Ala517Asp Polymorphism rs1063563 -
CCPG1 Q9ULG6 VAR_037069 p.Gly553Asp Polymorphism rs1063565 -
CCPG1 Q9ULG6 VAR_037070 p.Gly553Ser Polymorphism rs1063564 -
CCPG1 Q9ULG6 VAR_037071 p.Asn590Lys Polymorphism rs1063566 -
CCPG1 Q9ULG6 VAR_037072 p.Lys627Glu Polymorphism rs17853335 -
CCPG1 Q9ULG6 VAR_037073 p.Thr646Ile Polymorphism rs17857027 -
CCPG1 Q9ULG6 VAR_037074 p.His673Arg Polymorphism rs1063567 -
CCR2 P41597 VAR_014339 p.Val64Ile Polymorphism rs1799864 -
CCR2 P41597 VAR_014340 p.Gly355Glu Polymorphism rs3918387 -
CCR2 P41597 VAR_020066 p.Leu45Val Polymorphism rs4987052 -
CCR3 P51677 VAR_010668 p.Cys218Ser Polymorphism - -
CCR3 P51677 VAR_020067 p.Gly21Asp Polymorphism rs4987125 -
CCR3 P51677 VAR_049382 p.Pro39Leu Polymorphism rs5742906 -
CCR4 P51679 VAR_010669 p.Leu130Val Polymorphism - -
CCR4 P51679 VAR_010670 p.Cys178Ser Polymorphism - -
CCR5 P51681 VAR_003481 p.Tyr10Asp Unclassified - -
CCR5 P51681 VAR_003482 p.Arg31His Polymorphism rs56340326 -
CCR5 P51681 VAR_003483 p.Pro34Leu Unclassified - -
CCR5 P51681 VAR_003484 p.Lys62Arg Unclassified - -
CCR5 P51681 VAR_003485 p.Tyr68His Unclassified - -
CCR5 P51681 VAR_003486 p.Asp95Asn Unclassified - -
CCR5 P51681 VAR_003487 p.Gly97Glu Unclassified - -
CCR5 P51681 VAR_003488 p.Leu122Pro Unclassified - -
CCR5 P51681 VAR_003489 p.Phe158Ser Unclassified - -
CCR5 P51681 VAR_003490 p.Tyr176Cys Unclassified - -
CCR5 P51681 VAR_003491 p.Thr177Ala Unclassified - -
CCR5 P51681 VAR_003492 p.Ser185Asn Unclassified - -
CCR5 P51681 VAR_003493 p.Met210Val Unclassified - -
CCR5 P51681 VAR_003494 p.Tyr214Cys Unclassified - -
CCR5 P51681 VAR_003495 p.Thr239Ser Unclassified - -
CCR5 P51681 VAR_003496 p.Leu246Pro Unclassified - -
CCR5 P51681 VAR_003497 p.Thr288Met Unclassified - -
CCR5 P51681 VAR_003498 p.Glu302Gly Unclassified - -
CCR5 P51681 VAR_003499 p.Lys303Glu Unclassified - -
CCR5 P51681 VAR_003500 p.Asn306Ser Unclassified - -
CCR5 P51681 VAR_003501 p.Lys322Arg Unclassified - -
CCR5 P51681 VAR_003502 p.Glu333Gly Unclassified - -
CCR5 P51681 VAR_003503 p.Ala335Val Polymorphism rs1800944 -
CCR5 P51681 VAR_003504 p.Tyr339Phe Polymorphism rs1800945 -
CCR5 P51681 VAR_003505 p.Glu345Gly Unclassified - -
CCR5 P51681 VAR_011839 p.Ala29Ser Polymorphism rs1800939 -
CCR5 P51681 VAR_011840 p.Leu55Gln Polymorphism rs1799863 -
CCR5 P51681 VAR_011841 p.Arg60Ser Polymorphism rs1800940 -
CCR5 P51681 VAR_011842 p.Arg223Gln Polymorphism rs1800452 -
CCR5 P51681 VAR_011843 p.Gly301Val Polymorphism rs1800943 -
CCR5 P51681 VAR_012481 p.Cys178Arg Unclassified - -
CCR5 P51681 VAR_024066 p.Ile12Leu Polymorphism - -
CCR5 P51681 VAR_024067 p.Cys20Ser Polymorphism - -
CCR5 P51681 VAR_024068 p.Ile42Phe Polymorphism - -
CCR5 P51681 VAR_024069 p.Ala73Val Polymorphism rs56198941 -
CCR5 P51681 VAR_024070 p.Ser215Leu Polymorphism - -
CCR7 P32248 VAR_049383 p.Met7Val Polymorphism rs45521932 -
CCR8 P51685 VAR_049384 p.Ala27Gly Polymorphism rs2853699 -
CCR9 P51686 VAR_020068 p.Met284Val Polymorphism rs12721497 -
CCR9 P51686 VAR_029208 p.Ile92Val Polymorphism rs45530037 -
CCRL2 O00421 VAR_026488 p.Phe167Tyr Polymorphism rs3204849 -
CCRL2 O00421 VAR_026489 p.Val168Met Polymorphism rs6441977 -
CCRL2 O00421 VAR_026490 p.Ile243Val Polymorphism rs3204850 -
CCRL2 O00421 VAR_049385 p.Tyr4Cys Polymorphism rs11574443 -
CCRN4L Q9UK39 VAR_047096 p.His140Tyr Polymorphism rs2271777 -
CCT3 P49368 VAR_052265 p.Leu391Phe Polymorphism rs2230194 -
CCT4 P50991 VAR_052266 p.Ile112Val Polymorphism rs2272428 -
CCT5 P48643 VAR_030658 p.His147Arg Disease - Hereditary sensory neuropathy autosomal recessive with spastic paraplegia (HSNSP) [MIM:256840]
CCT5 P48643 VAR_052267 p.Glu146Val Polymorphism rs11557652 -
CCT6A P40227 VAR_052268 p.Tyr229Cys Polymorphism rs33922584 -
CCT6B Q92526 VAR_057269 p.Gly247Ala Polymorphism rs2230553 -
CCT6B Q92526 VAR_060297 p.Arg17Gln Polymorphism rs9635769 -
CCT6B Q92526 VAR_060298 p.Val48Ala Polymorphism rs2230552 -
CCT7 Q99832 VAR_052269 p.Thr259Ala Polymorphism rs2231427 -
CCT8 P50990 VAR_052270 p.His4Gln Polymorphism rs16983693 -
CCT8 P50990 VAR_052271 p.Val409Ile Polymorphism rs8129954 -
CCT8L1P A6NM43 VAR_046039 p.Cys217Ser Polymorphism rs6969304 -
CCT8L1P A6NM43 VAR_046040 p.Asp308Asn Polymorphism rs12672139 -
CCT8L1P A6NM43 VAR_046041 p.Ser395Gly Polymorphism rs6953943 -
CCT8L2 Q96SF2 VAR_046042 p.Trp320Arg Polymorphism rs2236639 -
CD101 Q93033 VAR_028371 p.Asn225Ser Polymorphism rs3754112 -
CD101 Q93033 VAR_028372 p.Met415Val Polymorphism rs2249265 -
CD101 Q93033 VAR_028373 p.Arg518Gln Polymorphism rs17235766 -
CD101 Q93033 VAR_028374 p.Ser525Arg Polymorphism rs17235773 -
CD101 Q93033 VAR_028375 p.Val965Ile Polymorphism rs12097758 -
CD101 Q93033 VAR_028376 p.Arg988Cys Polymorphism rs12067543 -
CD101 Q93033 VAR_054434 p.Gly157Ser Polymorphism rs34999087 -
CD101 Q93033 VAR_054435 p.Thr631Ser Polymorphism rs34510762 -
CD101 Q93033 VAR_054436 p.Arg933Gln Polymorphism rs12093834 -
CD101 Q93033 VAR_054437 p.Leu955Phe Polymorphism rs34223095 -
CD101 Q93033 VAR_054438 p.Arg992Trp Polymorphism rs34248572 -
CD109 Q6YHK3 VAR_028875 p.Gly45Val Polymorphism rs9446983 -
CD109 Q6YHK3 VAR_028876 p.Tyr703Ser Polymorphism rs10455097 -
CD109 Q6YHK3 VAR_028877 p.Asn797Ser Polymorphism rs2351528 -
CD109 Q6YHK3 VAR_028878 p.Val845Ile Polymorphism rs5023688 -
CD109 Q6YHK3 VAR_028879 p.Thr1241Met Polymorphism rs2917862 -
CD109 Q6YHK3 VAR_036236 p.Gln1007Glu Unclassified - A colorectal cancer sample
CD109 Q6YHK3 VAR_036237 p.Asn1065Lys Unclassified - A colorectal cancer sample
CD109 Q6YHK3 VAR_048105 p.Gly377Asp Polymorphism rs7741152 -
CD109 Q6YHK3 VAR_048106 p.Leu641Phe Polymorphism rs7742662 -
CD109 Q6YHK3 VAR_048107 p.Val1009Met Polymorphism rs35630075 -
CD109 Q6YHK3 VAR_048108 p.His1296Arg Polymorphism rs13207595 -
CD14 P08571 VAR_024302 p.Asn204Asp Polymorphism rs2228049 -
CD14 P08571 VAR_050771 p.Glu341Lys Polymorphism rs11556179 -
CD151 P48509 VAR_012490 p.Lys132Arg Polymorphism rs55840993 -
CD151 P48509 VAR_012491 p.Pro137Ser Polymorphism rs55841393 -
CD151 P48509 VAR_021153 p.Arg178His Polymorphism - -
CD151 P48509 VAR_025098 p.Thr120Met Polymorphism rs34215390 -
CD160 O95971 VAR_027747 p.Ile91Val Polymorphism rs2231373 -
CD163 Q86VB7 VAR_026574 p.Ile342Val Polymorphism rs4883263 -
CD163L1 Q9NR16 VAR_057206 p.Asp578Asn Polymorphism rs4072797 -
CD163L1 Q9NR16 VAR_057207 p.Gly582Ala Polymorphism rs4072796 -
CD163L1 Q9NR16 VAR_057208 p.Gly1055Ser Polymorphism rs36206713 -
CD163L1 Q9NR16 VAR_057209 p.Met1108Thr Polymorphism rs35480970 -
CD163L1 Q9NR16 VAR_059810 p.Leu523Met Polymorphism rs6488268 -
CD164L2 Q6UWJ8 VAR_057508 p.Met76Val Polymorphism rs2504779 -
CD177 Q8N6Q3 VAR_025858 p.Ala3Pro Polymorphism rs45441892 -
CD177 Q8N6Q3 VAR_025859 p.Leu251Ile Polymorphism rs10425835 -
CD177 Q8N6Q3 VAR_025860 p.Ala348Thr Polymorphism rs17856829 -
CD177 Q8N6Q3 VAR_026156 p.Leu119Phe Polymorphism - -
CD177 Q8N6Q3 VAR_026157 p.Arg323Gln Polymorphism - -
CD177 Q8N6Q3 VAR_026158 p.Phe379Ser Polymorphism - -
CD180 Q99467 VAR_021978 p.Asn53Lys Polymorphism rs16875312 -
CD180 Q99467 VAR_021979 p.Ser99Arg Polymorphism rs2230520 -
CD180 Q99467 VAR_057298 p.Val20Leu Polymorphism rs5744463 -
CD180 Q99467 VAR_057299 p.Asp259Asn Polymorphism rs5744525 -
CD180 Q99467 VAR_057300 p.Thr430Ala Polymorphism rs2230523 -
CD180 Q99467 VAR_057301 p.Phe648Leu Polymorphism rs2230524 -
CD180 Q99467 VAR_061859 p.Val356Met Polymorphism rs56752081 -
CD19 P15391 VAR_026963 p.Leu174Val Polymorphism rs2904880 -
CD19 P15391 VAR_036987 p.Arg514His Polymorphism rs34763945 -
CD1A P06126 VAR_010209 p.Thr30Ile Polymorphism rs2269714 -
CD1A P06126 VAR_010210 p.Cys68Trp Polymorphism rs2269715 -
CD1A P06126 VAR_062522 p.Lys22Asn Polymorphism rs3087217 -
CD1C P29017 VAR_031564 p.Asn70Thr Polymorphism rs3138100 -
CD1C P29017 VAR_031565 p.Phe300Ser Polymorphism rs3138105 -
CD1D P15813 VAR_010211 p.Thr64Ser Polymorphism - -
CD1E P15812 VAR_010191 p.Gln106Arg Polymorphism rs1065457 -
CD1E P15812 VAR_010192 p.Arg164Trp Polymorphism - -
CD1E P15812 VAR_010193 p.Leu194Pro Polymorphism - -
CD1E P15812 VAR_056035 p.Gly15Glu Polymorphism rs3180089 -
CD1E P15812 VAR_058324 p.His102Arg Polymorphism rs2873587 -
CD1E P15812 VAR_058325 p.Ser149Asn Polymorphism rs35116276 -
CD2 P06729 VAR_017104 p.His266Gln Polymorphism rs699738 -
CD2 P06729 VAR_033608 p.His339Asn Polymorphism rs35880225 -
CD2 P06729 VAR_035504 p.Cys217Tyr Unclassified - A breast cancer sample
CD200 P41217 VAR_027605 p.Ser11Cys Polymorphism rs1131199 -
CD200 P41217 VAR_027606 p.Pro46Thr Polymorphism rs2272022 -
CD200 P41217 VAR_056110 p.Val76Gly Polymorphism rs35465733 -
CD200R1 Q8TD46 VAR_014352 p.Arg89Lys Polymorphism rs2171509 -
CD200R1 Q8TD46 VAR_014353 p.Pro121Thr Polymorphism rs4596117 -
CD200R1 Q8TD46 VAR_014354 p.Gln177His Polymorphism rs9826308 -
CD200R1 Q8TD46 VAR_031022 p.Glu312Gln Polymorphism rs9865242 -
CD200R1L Q6Q8B3 VAR_045897 p.Arg113Leu Polymorphism rs4682119 -
CD207 Q9UJ71 VAR_054781 p.Ala55Val Polymorphism rs10489990 -
CD207 Q9UJ71 VAR_054782 p.Pro213Ser Polymorphism rs17006436 -
CD207 Q9UJ71 VAR_054783 p.Val278Ala Polymorphism rs741326 -
CD207 Q9UJ71 VAR_054784 p.Asn288Asp Polymorphism rs13383830 -
CD207 Q9UJ71 VAR_056151 p.Gln136Glu Polymorphism rs17718987 -
CD207 Q9UJ71 VAR_059448 p.Ala300Pro Polymorphism rs2080391 -
CD207 Q9UJ71 VAR_063828 p.Trp264Arg Disease - Birbeck granule deficiency (BIRGD) [MIM:613393]
CD209 Q9NNX6 VAR_036689 p.Glu214Asp Polymorphism rs11465377 -
CD209 Q9NNX6 VAR_036690 p.Leu242Val Polymorphism rs11465380 -
CD209 Q9NNX6 VAR_050104 p.Glu168Asp Polymorphism rs11465377 -
CD209 Q9NNX6 VAR_050105 p.Ala382Ser Polymorphism rs11465393 -
CD22 P20273 VAR_003913 p.Gln152Glu Unclassified - -
CD22 P20273 VAR_003914 p.Ser664Gly Polymorphism rs17719289 -
CD22 P20273 VAR_003915 p.Arg669Cys Polymorphism - -
CD22 P20273 VAR_003916 p.Gly745Asp Polymorphism rs10406069 -
CD22 P20273 VAR_014133 p.Ala34Thr Polymorphism - -
CD22 P20273 VAR_014134 p.Glu203Lys Polymorphism - -
CD22 P20273 VAR_014135 p.Tyr639His Polymorphism rs1058407 -
CD22 P20273 VAR_049903 p.Gly551Arg Polymorphism rs35715143 -
CD226 Q15762 VAR_018632 p.Ser307Gly Polymorphism rs763361 -
CD24 P25063 VAR_016156 p.Ala57Val Polymorphism rs8734 -
CD24 P25063 VAR_031576 p.Thr44Ser Polymorphism rs10465460 -
CD244 Q9BZW8 VAR_056036 p.Asn89Asp Polymorphism rs34846692 -
CD244 Q9BZW8 VAR_056037 p.Ser323Phe Polymorphism rs12064925 -
CD248 Q9HCU0 VAR_025013 p.His457Arg Polymorphism rs3741367 -
CD248 Q9HCU0 VAR_036399 p.Leu6Phe Unclassified - A colorectal cancer sample
CD27 P26842 VAR_016148 p.Ala59Thr Polymorphism rs25680 -
CD27 P26842 VAR_052348 p.His233Arg Polymorphism rs2532502 -
CD276 Q5ZPR3 VAR_049857 p.Pro97Leu Polymorphism rs7173448 -
CD276 Q5ZPR3 VAR_049858 p.Arg111Ser Polymorphism rs7173476 -
CD276 Q5ZPR3 VAR_049859 p.Gln137Leu Polymorphism rs11574477 -
CD276 Q5ZPR3 VAR_049860 p.Thr160Met Polymorphism rs11574479 -
CD276 Q5ZPR3 VAR_049861 p.Arg267His Polymorphism rs11574483 -
CD276 Q5ZPR3 VAR_049862 p.Ala279Thr Polymorphism rs10083681 -
CD276 Q5ZPR3 VAR_049863 p.Pro315Leu Polymorphism rs7173448 -
CD276 Q5ZPR3 VAR_049864 p.Arg329Ser Polymorphism rs7173476 -
CD276 Q5ZPR3 VAR_049865 p.Thr378Met Polymorphism rs11574479 -
CD2AP Q9Y5K6 VAR_033672 p.Asn581Lys Polymorphism rs34069459 -
CD2BP2 O95400 VAR_050772 p.Gly231Asp Polymorphism rs13330462 -
CD2BP2 O95400 VAR_050773 p.Thr262Ile Polymorphism rs34391305 -
CD300A Q9UGN4 VAR_030797 p.Arg111Gln Polymorphism rs2272111 -
CD300C Q08708 VAR_039133 p.Thr71Ile Polymorphism rs11870245 -
CD300E Q496F6 VAR_039129 p.Lys19Thr Polymorphism rs581157 -
CD300E Q496F6 VAR_039130 p.Thr27Ala Unclassified - A colorectal cancer sample
CD300E Q496F6 VAR_039131 p.Gly158Arg Polymorphism rs1878061 -
CD300LD Q6UXZ3 VAR_059386 p.Ser6Ala Polymorphism rs493430 -
CD300LD Q6UXZ3 VAR_059387 p.Val89Met Polymorphism rs783239 -
CD300LF Q8TDQ1 VAR_027152 p.Gln218Arg Polymorphism rs2034310 -
CD300LF Q8TDQ1 VAR_039128 p.Val19Ala Polymorphism rs35489971 -
CD300LG Q6UXG3 VAR_035261 p.Asp221Asn Polymorphism rs17852267 -
CD300LG Q6UXG3 VAR_035262 p.Thr228Ala Polymorphism rs12453522 -
CD302 Q8IX05 VAR_050101 p.Arg200Ser Polymorphism rs34068933 -
CD320 Q9NPF0 VAR_047315 p.Gln8Arg Polymorphism rs2232775 -
CD320 Q9NPF0 VAR_047316 p.Gly220Arg Polymorphism rs2336573 -
CD33 P20138 VAR_028260 p.Arg69Gly Polymorphism rs2455069 -
CD33 P20138 VAR_028261 p.Arg202Trp Polymorphism rs4082929 -
CD33 P20138 VAR_028262 p.Ile242Leu Polymorphism rs988337 -
CD33 P20138 VAR_028263 p.Phe243Leu Polymorphism rs11882250 -
CD33 P20138 VAR_028264 p.Val294Leu Polymorphism rs2271652 -
CD33 P20138 VAR_049904 p.Ala14Val Polymorphism rs12459419 -
CD33 P20138 VAR_049905 p.Trp22Arg Polymorphism rs35814802 -
CD33 P20138 VAR_049906 p.Ser128Asn Polymorphism rs34919259 -
CD33 P20138 VAR_049907 p.Gly304Arg Polymorphism rs35112940 -
CD33 P20138 VAR_049908 p.Thr331Ala Polymorphism rs35632246 -
CD33 P20138 VAR_061319 p.Val267Ile Polymorphism rs58981829 -
CD34 P28906 VAR_050774 p.Ala367Ser Polymorphism rs28362497 -
CD36 P16671 VAR_013918 p.Val154Phe Polymorphism rs5957 -
CD36 P16671 VAR_017913 p.Pro90Ser Disease rs3765187 Platelet glycoprotein IV deficiency (PG4D) [MIM:608404]
CD36 P16671 VAR_017914 p.Glu123Lys Unclassified - -
CD36 P16671 VAR_017915 p.Thr174Ala Unclassified - -
CD36 P16671 VAR_017917 p.Phe254Leu Disease - Platelet glycoprotein IV deficiency (PG4D) [MIM:608404]
CD36 P16671 VAR_017918 p.Ile271Thr Unclassified - -
CD36 P16671 VAR_017919 p.Ile413Leu Disease - Platelet glycoprotein IV deficiency (PG4D) [MIM:608404]
CD36 P16671 VAR_019049 p.Ser127Leu Polymorphism - -
CD38 P28907 VAR_001323 p.Arg140Trp Polymorphism rs1800561 -
CD3D P04234 VAR_049646 p.Gln147Arg Polymorphism rs45510201 -
CD3EAP O15446 VAR_051875 p.Lys259Thr Polymorphism rs735482 -
CD3EAP O15446 VAR_051876 p.Thr282Ala Polymorphism rs3212989 -
CD3EAP O15446 VAR_051877 p.Lys373Glu Polymorphism rs762562 -
CD3EAP O15446 VAR_051878 p.Asp394Asn Polymorphism rs2336219 -
CD3EAP O15446 VAR_051879 p.Lys503Gln Polymorphism rs3212986 -
CD3EAP O15446 VAR_051880 p.Gln504Lys Polymorphism rs3212986 -
CD3G P09693 VAR_049854 p.Val131Phe Polymorphism rs3753058 -
CD4 P01730 VAR_003906 p.Arg265Trp Polymorphism rs28919570 -
CD4 P01730 VAR_023459 p.Lys191Glu Polymorphism rs28917504 -
CD4 P01730 VAR_023460 p.Phe227Ser Polymorphism rs11064419 -
CD40 P25942 VAR_013628 p.Cys83Arg Disease rs28931586 Immunodeficiency with hyper-IgM type 3 (HIGM3) [MIM:606843]
CD40 P25942 VAR_018751 p.Ser124Leu Polymorphism rs11569321 -
CD40 P25942 VAR_018752 p.Pro227Ala Polymorphism rs11086998 -
CD40 P25942 VAR_039301 p.Cys26Gln Unclassified - Bladder carcinoma cell line Hu549
CD40 P25942 VAR_039302 p.Ser35Gly Unclassified - Bladder carcinoma cell line Hu549
CD40 P25942 VAR_039303 p.Ser39Thr Unclassified - Bladder carcinoma cell line Hu549
CD40LG P29965 VAR_007513 p.Met36Arg Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_007514 p.Ala123Glu Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_007515 p.Val126Ala Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_007517 p.Trp140Cys Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_007518 p.Trp140Gly Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_007519 p.Trp140Arg Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_007520 p.Gly144Glu Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_007521 p.Leu155Pro Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_007522 p.Thr211Asn Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_007523 p.Gly219Arg Polymorphism - -
CD40LG P29965 VAR_007524 p.Gly227Val Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_007526 p.Leu231Ser Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_007527 p.Ala235Pro Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_007528 p.Thr254Met Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017922 p.Thr147Asn Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017923 p.Tyr170Cys Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017924 p.Leu258Ser Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017925 p.Gly38Arg Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017926 p.His125Arg Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017927 p.Gln174Arg Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017928 p.Gly257Ser Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017929 p.Gly116Arg Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017930 p.Gly116Ser Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017931 p.Val126Asp Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017932 p.Lys143Thr Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017933 p.Ala173Asp Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017934 p.Thr176Ile Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017935 p.Leu195Pro Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017936 p.Ala208Asp Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017937 p.His224Tyr Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017938 p.Gly226Ala Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017939 p.Val237Glu Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD40LG P29965 VAR_017940 p.Gly257Asp Disease - X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
CD44 P16070 VAR_006490 p.Arg46Pro Unclassified - -
CD44 P16070 VAR_021147 p.Lys417Arg Polymorphism rs9666607 -
CD44 P16070 VAR_030325 p.Thr393Met Polymorphism rs11607491 -
CD44 P16070 VAR_030326 p.Ile479Thr Polymorphism rs1467558 -
CD44 P16070 VAR_030327 p.Asp494His Polymorphism rs12273397 -
CD46 P15529 VAR_022262 p.Asp266Asn Polymorphism rs17006830 -
CD46 P15529 VAR_022263 p.Pro324Leu Polymorphism rs41317833 -
CD46 P15529 VAR_022264 p.Ala353Val Polymorphism rs35366573 -
CD46 P15529 VAR_022265 p.Val355Gly Polymorphism - -
CD46 P15529 VAR_026567 p.Ser13Phe Polymorphism - -
CD46 P15529 VAR_026568 p.Arg59Gln Polymorphism - -
CD46 P15529 VAR_026569 p.Pro165Ser Disease - Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]
CD46 P15529 VAR_026570 p.Ser240Pro Disease - Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]
CD46 P15529 VAR_035828 p.Cys228Tyr Unclassified - A colorectal cancer sample
CD46 P15529 VAR_063656 p.Cys35Tyr Disease - Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]
CD46 P15529 VAR_063657 p.Trp216Cys Disease - Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]
CD46 P15529 VAR_063658 p.Pro231Arg Disease - Hemolytic uremic syndrome atypical type 2 (AHUS2) [MIM:612922]
CD48 P09326 VAR_020082 p.Glu102Gln Polymorphism rs2295615 -
CD48 P09326 VAR_049909 p.Leu241Ser Polymorphism rs16832307 -
CD5 P06127 VAR_020411 p.Pro224Leu Polymorphism rs2241002 -
CD5 P06127 VAR_024649 p.His461Arg Polymorphism rs637186 -
CD5 P06127 VAR_058203 p.Ala471Val Polymorphism rs2229177 -
CD52 P31358 VAR_014838 p.Ile41Met Polymorphism rs17645 -
CD52 P31358 VAR_050775 p.Asn40Ser Polymorphism rs1071849 -
CD55 P08174 VAR_001997 p.Arg52Leu Polymorphism rs28371588 -
CD55 P08174 VAR_001998 p.Arg52Pro Unclassified - -
CD55 P08174 VAR_001999 p.Leu82Arg Unclassified - -
CD55 P08174 VAR_002000 p.Ser199Leu Polymorphism rs56283594 -
CD55 P08174 VAR_002001 p.Ala227Pro Polymorphism rs60822373 -
CD55 P08174 VAR_015884 p.Arg240His Unclassified - -
CD58 P19256 VAR_049885 p.Ser15Gly Polymorphism rs17426456 -
CD5L O43866 VAR_033728 p.Asp117Glu Polymorphism rs11537583 -
CD6 P30203 VAR_057202 p.Arg225Trp Polymorphism rs11230563 -
CD6 P30203 VAR_057203 p.Ala271Thr Polymorphism rs12360861 -
CD6 P30203 VAR_057204 p.Ser351Asn Polymorphism rs34974368 -
CD6 P30203 VAR_057205 p.Gly606Ser Polymorphism rs2074233 -
CD6 P30203 VAR_059809 p.Thr217Met Polymorphism rs11230562 -
CD6 P30203 VAR_060790 p.Ala257Val Polymorphism rs2074225 -
CD68 P34810 VAR_016144 p.Gln254Lys Polymorphism rs25679 -
CD68 P34810 VAR_016145 p.Ala340Thr Polymorphism rs17607 -
CD68 P34810 VAR_049725 p.Ile329Thr Polymorphism rs35452170 -
CD68 P34810 VAR_049726 p.Ala350Thr Polymorphism rs9901675 -
CD7 P09564 VAR_049855 p.Thr113Ala Polymorphism rs34579511 -
CD72 P21854 VAR_033729 p.Pro234Leu Polymorphism rs34791102 -
CD79B P40259 VAR_057833 p.Gly137Ser Disease - Agammaglobulinemia type 6 (AGM6) [MIM:612692]
CD82 P27701 VAR_052326 p.Ile241Val Polymorphism rs1139971 -
CD83 Q01151 VAR_033609 p.Arg182Gln Polymorphism rs2230193 -
CD86 P42081 VAR_014650 p.Ala310Thr Polymorphism rs1129055 -
CD86 P42081 VAR_021916 p.Ser170Asn Polymorphism rs9282642 -
CD86 P42081 VAR_021917 p.Asp323Asn Polymorphism rs9282648 -
CD86 P42081 VAR_055003 p.Val185Ile Polymorphism rs2681417 -
CD8A P01732 VAR_021020 p.Gly111Ser Disease - Familial CD8 deficiency (CD8 deficiency) [MIM:608957]
CD93 Q9NPY3 VAR_013573 p.Val318Ala Polymorphism - -
CD93 Q9NPY3 VAR_036400 p.Ala220Val Unclassified - A colorectal cancer sample
CD93 Q9NPY3 VAR_050102 p.Pro541Ser Polymorphism rs3746731 -
CD96 P40200 VAR_021928 p.Ala142Pro Polymorphism rs2276872 -
CD96 P40200 VAR_037578 p.Thr280Met Disease - C syndrome (CSYN) [MIM:211750]
CD97 P48960 VAR_017760 p.Arg367Gln Polymorphism rs2230748 -
CD99 P14209 VAR_014733 p.Met166Val Polymorphism rs11556080 -
CD99 P14209 VAR_014734 p.Asn173Ile Polymorphism rs4717 -
CDA P32320 VAR_021559 p.Lys27Gln Polymorphism rs2072671 -
CDAN1 Q8IWY9 VAR_017218 p.Asn599Ser Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
CDAN1 Q8IWY9 VAR_017219 p.Pro672Leu Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
CDAN1 Q8IWY9 VAR_017220 p.Glu698Lys Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
CDAN1 Q8IWY9 VAR_017221 p.Arg714Trp Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
CDAN1 Q8IWY9 VAR_017222 p.Phe868Ile Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
CDAN1 Q8IWY9 VAR_017223 p.Val869Met Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
CDAN1 Q8IWY9 VAR_017224 p.Arg1042Trp Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
CDAN1 Q8IWY9 VAR_017225 p.Asp1043Val Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
CDAN1 Q8IWY9 VAR_017226 p.Pro1130Leu Disease - Congenital dyserythropoietic anemia type 1 (CDA1) [MIM:224120]
CDAN1 Q8IWY9 VAR_056785 p.Gln596Arg Polymorphism rs12917189 -
CDAN1 Q8IWY9 VAR_056786 p.Arg891Cys Polymorphism rs8023524 -
CDAN1 Q8IWY9 VAR_059602 p.Gln107Leu Polymorphism rs4265781 -
CDC14A Q9UNH5 VAR_019957 p.Arg345Gln Polymorphism rs28364897 -
CDC14A Q9UNH5 VAR_019958 p.Ser589Phe Polymorphism rs28364923 -
CDC14A Q9UNH5 VAR_035655 p.Asp493Tyr Unclassified - A colorectal cancer sample
CDC14B O60729 VAR_019959 p.Ile302Thr Polymorphism rs16911114 -
CDC14B O60729 VAR_019960 p.Ile341Thr Polymorphism rs16911075 -
CDC14C A4D256 VAR_038327 p.Pro238Ser Polymorphism rs1615556 -
CDC14C A4D256 VAR_038328 p.Ile296Leu Polymorphism rs421206 -
CDC20 Q12834 VAR_030368 p.Val402Met Polymorphism - -
CDC20 Q12834 VAR_030369 p.Arg479Gln Polymorphism - -
CDC20B Q86Y33 VAR_043860 p.Thr8Pro Polymorphism rs173042 -
CDC20B Q86Y33 VAR_043861 p.Glu17Lys Polymorphism rs423074 -
CDC20B Q86Y33 VAR_043862 p.Thr97Ser Polymorphism rs34132993 -
CDC20B Q86Y33 VAR_043863 p.Arg121Cys Polymorphism rs1021580 -
CDC20B Q86Y33 VAR_043864 p.Ser496Ala Polymorphism rs3104230 -
CDC20B Q86Y33 VAR_043865 p.Arg503Trp Polymorphism rs444527 -
CDC23 Q9UJX2 VAR_019232 p.Glu78Gln Polymorphism rs17228304 -
CDC23 Q9UJX2 VAR_024675 p.Pro9Leu Polymorphism rs2231471 -
CDC25A P30304 VAR_020932 p.Ser88Phe Polymorphism rs3731499 -
CDC25A P30304 VAR_023532 p.Arg182Gly Polymorphism rs6771386 -
CDC25A P30304 VAR_023533 p.Arg182Trp Polymorphism rs6771386 -
CDC25B P30305 VAR_020933 p.Glu548Lys Polymorphism rs11570019 -
CDC25C P30307 VAR_020146 p.Gly297Arg Polymorphism rs11567997 -
CDC25C P30307 VAR_027922 p.Ser14Asn Polymorphism rs11567959 -
CDC25C P30307 VAR_027923 p.Arg70Cys Polymorphism rs3734166 -
CDC25C P30307 VAR_027924 p.Ser78Asn Polymorphism rs11567962 -
CDC27 P30260 VAR_014489 p.Tyr496His Polymorphism rs13666 -
CDC27 P30260 VAR_035861 p.Gly270Ala Unclassified - A breast cancer sample
CDC27 P30260 VAR_052613 p.Ser320Pro Polymorphism rs3208653 -
CDC34 P49427 VAR_021277 p.Asp227His Polymorphism rs16990650 -
CDC37 Q16543 VAR_022220 p.Gly360Glu Polymorphism rs280528 -
CDC37L1 Q7L3B6 VAR_038755 p.Ser291Phe Polymorphism rs7036014 -
CDC42BPA Q5VT25 VAR_040830 p.Glu50Lys Unclassified - A lung neuroendocrine carcinoma sample
CDC42BPA Q5VT25 VAR_040831 p.Thr231Met Polymorphism rs34614709 -
CDC42BPA Q5VT25 VAR_040832 p.Ile537Thr Polymorphism rs56364976 -
CDC42BPA Q5VT25 VAR_040833 p.Ile1418Lys Polymorphism - -
CDC42BPA Q5VT25 VAR_045583 p.Thr780Met Polymorphism rs56119119 -
CDC42BPA Q5VT25 VAR_045584 p.Tyr790Cys Polymorphism rs34943764 -
CDC42BPA Q5VT25 VAR_045585 p.Ala1148Thr Polymorphism - -
CDC42BPA Q5VT25 VAR_045586 p.Arg1211His Polymorphism - -
CDC42BPA Q5VT25 VAR_045587 p.Val1317Ile Polymorphism - -
CDC42BPA Q5VT25 VAR_045588 p.Ala1469Val Polymorphism rs55687355 -
CDC42BPA Q5VT25 VAR_045589 p.Thr1618Ala Polymorphism - -
CDC42BPA Q5VT25 VAR_045590 p.Ala1699Val Polymorphism rs2802269 -
CDC42BPA Q5VT25 VAR_057104 p.Ala1712Val Polymorphism rs2802269 -
CDC42BPB Q9Y5S2 VAR_025847 p.Ile1077Val Polymorphism rs34822377 -
CDC42BPB Q9Y5S2 VAR_040834 p.Lys500Glu Unclassified - A breast infiltrating ductal carcinoma sample
CDC42BPB Q9Y5S2 VAR_040835 p.Arg555Gln Polymorphism rs36001612 -
CDC42BPB Q9Y5S2 VAR_040836 p.Arg671Gln Polymorphism rs55948035 -
CDC42BPB Q9Y5S2 VAR_040837 p.Arg876Trp Unclassified - A colorectal adenocarcinoma sample
CDC42BPB Q9Y5S2 VAR_040838 p.Glu1315Lys Unclassified - A lung large cell carcinoma sample
CDC42BPB Q9Y5S2 VAR_040839 p.Ser1633Tyr Polymorphism rs56412851 -
CDC42BPG Q6DT37 VAR_040840 p.Pro168Leu Polymorphism rs34454471 -
CDC42BPG Q6DT37 VAR_040841 p.Ser280Phe Unclassified - A glioblastoma multiforme sample
CDC42BPG Q6DT37 VAR_040842 p.Thr362Pro Polymorphism rs55688429 -
CDC42BPG Q6DT37 VAR_040843 p.Ala537Asp Polymorphism rs34241745 -
CDC42BPG Q6DT37 VAR_057105 p.Gln1135Arg Polymorphism rs3741395 -
CDC42EP2 O14613 VAR_023001 p.Asn176Ser Polymorphism rs4149839 -
CDC42EP2 O14613 VAR_023002 p.Ile191Phe Polymorphism rs7120634 -
CDC45 O75419 VAR_019286 p.Val81Ile Polymorphism rs13447203 -
CDC45 O75419 VAR_019287 p.Val376Met Polymorphism rs13447263 -
CDC45 O75419 VAR_053026 p.Met356Arg Polymorphism rs17209274 -
CDC5L Q99459 VAR_050181 p.Tyr459Cys Polymorphism rs11572006 -
CDC6 Q99741 VAR_019349 p.Thr238Ala Polymorphism rs4135010 -
CDC6 Q99741 VAR_019350 p.Asp295Asn Polymorphism rs4135012 -
CDC6 Q99741 VAR_019351 p.Thr299Met Polymorphism rs4135013 -
CDC6 Q99741 VAR_019352 p.Arg378His Polymorphism rs4135016 -
CDC6 Q99741 VAR_019353 p.Val441Ile Polymorphism rs13706 -
CDC6 Q99741 VAR_065493 p.Thr323Arg Disease - Meier-Gorlin syndrome type 5 (MGORS5) [MIM:613805]
CDC7 O00311 VAR_019255 p.Gln23Pro Polymorphism rs13447459 -
CDC7 O00311 VAR_019256 p.Ile99Val Polymorphism rs13447492 -
CDC7 O00311 VAR_019257 p.Gly112Trp Polymorphism rs13447493 -
CDC7 O00311 VAR_019258 p.Phe162Leu Polymorphism rs13447503 -
CDC7 O00311 VAR_019259 p.Lys441Arg Polymorphism rs13447539 -
CDC7 O00311 VAR_040403 p.Ile208Met Polymorphism rs34979509 -
CDC7 O00311 VAR_040404 p.Glu209Asp Polymorphism rs56327502 -
CDC7 O00311 VAR_040405 p.Thr472Ile Polymorphism rs56381770 -
CDC7 O00311 VAR_040406 p.Ser498Ala Polymorphism rs35055915 -
CDC73 Q6P1J9 VAR_024082 p.Leu64Pro Disease - Familial isolated hyperparathyroidism (FIHP) [MIM:145000]
CDC73 Q6P1J9 VAR_031825 p.Leu384Pro Polymorphism rs35590728 -
CDC73 Q6P1J9 VAR_064927 p.Ala2Ser Unclassified - -
CDC73 Q6P1J9 VAR_064929 p.Lys34Gln Unclassified - -
CDC73 Q6P1J9 VAR_064930 p.Ser59Phe Unclassified - -
CDC73 Q6P1J9 VAR_064931 p.Leu63Pro Unclassified - -
CDC73 Q6P1J9 VAR_064932 p.Arg91Pro Unclassified - -
CDC73 Q6P1J9 VAR_064933 p.Leu95Pro Unclassified - -
CDC73 Q6P1J9 VAR_064934 p.Asn272Ser Unclassified - -
CDC73 Q6P1J9 VAR_064935 p.Arg292Lys Unclassified - -
CDC73 Q6P1J9 VAR_064936 p.Asp379Asn Disease - Hyperparathyroidism-jaw tumor syndrome (HPT-JT) [MIM:145001]
CDCA2 Q69YH5 VAR_032350 p.Val717Ile Polymorphism rs4872318 -
CDCA2 Q69YH5 VAR_032351 p.Arg884Ser Polymorphism rs3829009 -
CDCA5 Q96FF9 VAR_050777 p.Ser156Tyr Polymorphism rs34020666 -
CDCA7L Q96GN5 VAR_050776 p.Arg187Ser Polymorphism rs35281045 -
CDCA8 Q53HL2 VAR_027063 p.Lys12Asn Polymorphism rs17851453 -
CDCP1 Q9H5V8 VAR_025498 p.Gln525Arg Polymorphism rs3749191 -
CDCP1 Q9H5V8 VAR_025499 p.Asp709Gly Polymorphism rs9874077 -
CDCP1 Q9H5V8 VAR_055095 p.Ala673Val Polymorphism rs35428731 -
CDCP2 Q5VXM1 VAR_035162 p.Gly244Arg Polymorphism rs3766465 -
CDH1 P12830 VAR_001306 p.His123Tyr Unclassified - A gastric cancer sample
CDH1 P12830 VAR_001307 p.Thr193Pro Unclassified - A diffuse gastric cancer sample
CDH1 P12830 VAR_001309 p.Asn315Ser Unclassified - Lobular breast carcinoma
CDH1 P12830 VAR_001310 p.Glu336Asp Polymorphism - -
CDH1 P12830 VAR_001311 p.Asp370Ala Unclassified - A diffuse gastric cancer sample
CDH1 P12830 VAR_001314 p.Glu463Gln Unclassified - A gastric carcinoma sample
CDH1 P12830 VAR_001315 p.Thr470Ile Polymorphism - -
CDH1 P12830 VAR_001317 p.Val473Asp Unclassified - A diffuse gastric cancer sample
CDH1 P12830 VAR_001318 p.Ala592Thr Unclassified rs35187787 A thyroid cancer sample
CDH1 P12830 VAR_001319 p.Arg598Gln Unclassified - A gastric cancer sample
CDH1 P12830 VAR_001320 p.Ala617Thr Polymorphism rs33935154 -
CDH1 P12830 VAR_001321 p.Leu711Val Unclassified - -
CDH1 P12830 VAR_001322 p.Ser838Gly Unclassified - An ovarian carcinoma sample
CDH1 P12830 VAR_008712 p.Asp244Gly Disease - Hereditary diffuse gastric cancer (HDGC) [MIM:137215]
CDH1 P12830 VAR_008713 p.Val487Ala Disease - Hereditary diffuse gastric cancer (HDGC) [MIM:137215]
CDH1 P12830 VAR_013970 p.Ser270Ala Unclassified - -
CDH1 P12830 VAR_013971 p.Thr340Ala Unclassified - -
CDH1 P12830 VAR_021868 p.Leu630Val Polymorphism rs2276331 -
CDH1 P12830 VAR_021869 p.Cys695Arg Polymorphism rs9282655 -
CDH1 P12830 VAR_023357 p.Leu478Pro Polymorphism rs35520415 -
CDH1 P12830 VAR_023358 p.Val832Met Disease rs35572355 Hereditary diffuse gastric cancer (HDGC) [MIM:137215]
CDH1 P12830 VAR_023359 p.Glu880Lys Polymorphism rs34507583 -
CDH1 P12830 VAR_033026 p.Met282Ile Unclassified - A breast cancer sample
CDH1 P12830 VAR_033027 p.Asp777Asn Unclassified - A breast cancer sample
CDH1 P12830 VAR_048500 p.Asp72Asn Polymorphism rs35606263 -
CDH1 P12830 VAR_048501 p.Ile393Asn Polymorphism rs34466743 -
CDH1 P12830 VAR_048502 p.Val473Ile Polymorphism rs36087757 -
CDH1 P12830 VAR_055431 p.Ala634Val Unclassified - -
CDH10 Q9Y6N8 VAR_028751 p.Ser413Phe Polymorphism rs1395027 -
CDH10 Q9Y6N8 VAR_036102 p.Val371Leu Unclassified - A breast cancer sample
CDH11 P55287 VAR_031945 p.Thr255Met Polymorphism rs35195 -
CDH11 P55287 VAR_031946 p.Met275Ile Polymorphism rs1130821 -
CDH11 P55287 VAR_031947 p.Ser373Ala Polymorphism rs35213 -
CDH12 P55289 VAR_014917 p.Glu86Lys Polymorphism rs7236 -
CDH12 P55289 VAR_048505 p.Val68Met Polymorphism rs4371716 -
CDH12 P55289 VAR_048506 p.Ile284Val Polymorphism rs17328673 -
CDH12 P55289 VAR_048507 p.Ile475Thr Polymorphism rs12108814 -
CDH13 P55290 VAR_030632 p.Leu121Ser Polymorphism rs7197352 -
CDH13 P55290 VAR_065747 p.Arg65Cys Unclassified - -
CDH13 P55290 VAR_065748 p.Ala103Val Unclassified - -
CDH13 P55290 VAR_065749 p.Gly113Arg Unclassified - -
CDH13 P55290 VAR_065750 p.Arg246Trp Unclassified - -
CDH13 P55290 VAR_065751 p.Glu367Gln Unclassified - -
CDH13 P55290 VAR_065752 p.Ala376Thr Polymorphism rs35549391 -
CDH13 P55290 VAR_065753 p.Leu643Arg Polymorphism rs34106627 -
CDH15 P55291 VAR_054966 p.Val8Leu Disease - Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]
CDH15 P55291 VAR_054967 p.Arg60Cys Disease - Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]
CDH15 P55291 VAR_054968 p.Arg92Trp Disease - Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]
CDH15 P55291 VAR_054969 p.Ala122Val Disease - Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]
CDH16 O75309 VAR_021870 p.Leu191Phe Polymorphism rs2271024 -
CDH16 O75309 VAR_021871 p.His257Tyr Polymorphism rs2271023 -
CDH16 O75309 VAR_061058 p.Arg717His Polymorphism rs34621310 -
CDH17 Q12864 VAR_031694 p.Ile446Thr Polymorphism rs1131829 -
CDH17 Q12864 VAR_031695 p.Glu734Asp Polymorphism rs1051623 -
CDH17 Q12864 VAR_031696 p.Glu739Ala Polymorphism rs1051624 -
CDH17 Q12864 VAR_055567 p.Lys115Glu Polymorphism rs2243518 -
CDH2 P19022 VAR_028254 p.Ala21Thr Polymorphism rs17495042 -
CDH2 P19022 VAR_028255 p.Ala118Thr Polymorphism rs17445840 -
CDH2 P19022 VAR_028256 p.Ser196Thr Polymorphism rs1041970 -
CDH2 P19022 VAR_028257 p.Ile212Leu Polymorphism rs1041972 -
CDH2 P19022 VAR_028258 p.Asn845Ser Polymorphism rs2289664 -
CDH2 P19022 VAR_048503 p.Thr454Ala Polymorphism rs17857112 -
CDH20 Q9HBT6 VAR_036103 p.Met228Ile Unclassified - A breast cancer sample
CDH20 Q9HBT6 VAR_036104 p.Pro416Thr Unclassified - A breast cancer sample
CDH20 Q9HBT6 VAR_036105 p.Gln746His Unclassified - A breast cancer sample
CDH20 Q9HBT6 VAR_039119 p.Pro328His Polymorphism rs1943330 -
CDH20 Q9HBT6 VAR_039120 p.Gln371Arg Polymorphism rs35923922 -
CDH20 Q9HBT6 VAR_039121 p.Pro391Leu Polymorphism rs17068463 -
CDH23 Q9H251 VAR_012166 p.Arg3Cys Polymorphism rs7902757 -
CDH23 Q9H251 VAR_012167 p.Gly490Ala Polymorphism rs1227049 -
CDH23 Q9H251 VAR_012168 p.Ser496Asn Polymorphism rs10999947 -
CDH23 Q9H251 VAR_012169 p.Asp990Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_012170 p.Ala1222Thr Polymorphism rs41281316 -
CDH23 Q9H251 VAR_012172 p.Arg1349Cys Polymorphism rs41281318 -
CDH23 Q9H251 VAR_012173 p.Asp1351Asn Polymorphism rs1227065 -
CDH23 Q9H251 VAR_012174 p.Gln1496His Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_012175 p.Thr1575Ala Polymorphism rs1227051 -
CDH23 Q9H251 VAR_012176 p.Thr1671Ser Polymorphism - -
CDH23 Q9H251 VAR_012177 p.Val1675Ile Polymorphism rs17712523 -
CDH23 Q9H251 VAR_012178 p.Arg1746Gln Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_012179 p.Arg1804Gln Polymorphism rs3802711 -
CDH23 Q9H251 VAR_012180 p.Thr1999Ser Polymorphism rs11592462 -
CDH23 Q9H251 VAR_012181 p.Glu2044Lys Polymorphism rs10466026 -
CDH23 Q9H251 VAR_012182 p.Asp2045Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_012183 p.Asp2202Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_012184 p.Arg2358Gln Polymorphism rs4747194 -
CDH23 Q9H251 VAR_012185 p.Pro2380Leu Polymorphism rs4747195 -
CDH23 Q9H251 VAR_012186 p.Glu2588Gln Polymorphism rs41281338 -
CDH23 Q9H251 VAR_012187 p.Ile2950Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_012188 p.Arg2956Cys Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_012189 p.Pro3059Thr Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_012190 p.Phe3125Leu Polymorphism rs45583140 -
CDH23 Q9H251 VAR_024030 p.Ala366Thr Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_024031 p.Thr1209Ala Disease rs41281314 Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_024032 p.Arg1507Gln Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_024033 p.Arg3189Trp Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_024033 p.Arg3189Trp Disease - Usher syndrome type 1D/F (USH1DF) [MIM:601067]
CDH23 Q9H251 VAR_024034 p.Ser3245Phe Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_027317 p.Asp124Gly Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027318 p.Glu247Lys Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_027319 p.Asn452Ser Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027320 p.Leu480Gln Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027321 p.Ala484Pro Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_027322 p.Arg582Gln Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027323 p.Arg1060Trp Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027324 p.Gly1186Asp Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027325 p.Pro1206Arg Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_027326 p.Asp1341Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027327 p.Arg1437Gln Polymorphism rs56181447 -
CDH23 Q9H251 VAR_027328 p.Ala1586Pro Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027329 p.Glu1595Lys Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027330 p.Val1620Met Polymorphism rs41281330 -
CDH23 Q9H251 VAR_027331 p.Asp1846Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027332 p.Thr1887Ile Polymorphism - -
CDH23 Q9H251 VAR_027333 p.Phe1888Ser Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027334 p.Gly2017Ser Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_027335 p.Arg2066Gln Polymorphism - -
CDH23 Q9H251 VAR_027336 p.Asp2148Asn Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027337 p.Val2283Ile Polymorphism rs41281334 -
CDH23 Q9H251 VAR_027338 p.Asp2376Asn Polymorphism rs9663920 -
CDH23 Q9H251 VAR_027339 p.Arg2465Trp Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027340 p.Ser2517Gly Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_027341 p.Arg2608His Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_027342 p.Gly2744Ser Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_027343 p.Arg2833Gly Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_027344 p.Val2933Glu Polymorphism - -
CDH23 Q9H251 VAR_027345 p.Asp2954Asn Polymorphism - -
CDH23 Q9H251 VAR_027346 p.Asn2962Ser Polymorphism - -
CDH23 Q9H251 VAR_027347 p.Arg3175His Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_046404 p.Pro240Leu Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_046405 p.Arg301Gln Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_046406 p.Val746Ile Polymorphism - -
CDH23 Q9H251 VAR_046407 p.His755Tyr Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_046408 p.Ser944Gly Polymorphism - -
CDH23 Q9H251 VAR_046409 p.Glu960Lys Polymorphism - -
CDH23 Q9H251 VAR_046410 p.Val1090Ile Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_046411 p.Asn1098Ser Disease rs41281310 Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_046412 p.Arg1236Gln Polymorphism - -
CDH23 Q9H251 VAR_046413 p.Asn1282Ser Polymorphism - -
CDH23 Q9H251 VAR_046414 p.Arg1417Trp Polymorphism - -
CDH23 Q9H251 VAR_046415 p.Ile1520Met Polymorphism - -
CDH23 Q9H251 VAR_046416 p.Met1574Thr Polymorphism - -
CDH23 Q9H251 VAR_046417 p.Val1711Ile Polymorphism - -
CDH23 Q9H251 VAR_046418 p.Gln1716Pro Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_046419 p.Pro1788Leu Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_046420 p.Val1807Met Polymorphism - -
CDH23 Q9H251 VAR_046421 p.Ser1876Asn Polymorphism - -
CDH23 Q9H251 VAR_046422 p.Val1908Ile Polymorphism - -
CDH23 Q9H251 VAR_046423 p.Arg1912Trp Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_046424 p.Asp1930Asn Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_046425 p.Arg2029Trp Disease - Deafness autosomal recessive type 12 (DFNB12) [MIM:601386]
CDH23 Q9H251 VAR_046426 p.Ile2125Met Polymorphism rs16929354 -
CDH23 Q9H251 VAR_046427 p.Arg2171Cys Polymorphism - -
CDH23 Q9H251 VAR_046428 p.Gln2227Pro Polymorphism - -
CDH23 Q9H251 VAR_046429 p.Asp2376Val Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_046430 p.Leu2473Pro Polymorphism - -
CDH23 Q9H251 VAR_046431 p.Arg2489His Polymorphism - -
CDH23 Q9H251 VAR_046432 p.Thr2530Ile Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_046433 p.Ile2669Val Polymorphism - -
CDH23 Q9H251 VAR_046434 p.Gly2771Ser Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_046435 p.Phe2801Val Polymorphism rs3802707 -
CDH23 Q9H251 VAR_046436 p.Ala2853Gln Unclassified - -
CDH23 Q9H251 VAR_046437 p.Val2968Ala Disease - Usher syndrome type 1D (USH1D) [MIM:601067]
CDH23 Q9H251 VAR_046438 p.Arg3175Cys Polymorphism - -
CDH26 Q8IXH8 VAR_055568 p.Ile144Thr Polymorphism rs6015609 -
CDH26 Q8IXH8 VAR_055569 p.Arg301Gly Polymorphism rs11086690 -
CDH26 Q8IXH8 VAR_055570 p.Val448Ala Polymorphism rs34866303 -
CDH26 Q8IXH8 VAR_055571 p.Pro479Leu Polymorphism rs6071067 -
CDH26 Q8IXH8 VAR_055572 p.Val615Leu Polymorphism rs194998 -
CDH3 P22223 VAR_015422 p.Arg503His Disease - Hypotrichosis with juvenile macular dystrophy (HJMD) [MIM:601553]
CDH3 P22223 VAR_031929 p.Val237Met Polymorphism rs17854171 -
CDH3 P22223 VAR_031930 p.Arg477His Polymorphism rs34494880 -
CDH3 P22223 VAR_031931 p.Gln563His Polymorphism rs1126933 -
CDH3 P22223 VAR_033010 p.Asn322Ile Disease - Ectodermal dysplasia with ectrodactyly and macular dystrophy (EEM) [MIM:225280]
CDH4 P55283 VAR_033699 p.Lys625Arg Polymorphism rs6142884 -
CDH4 P55283 VAR_048504 p.Ala141Val Polymorphism rs34937312 -
CDH5 P33151 VAR_028003 p.Ile503Thr Polymorphism rs16956504 -
CDH5 P33151 VAR_028004 p.Ile517Thr Polymorphism rs1049970 -
CDH7 Q9ULB5 VAR_060247 p.Asn576Ser Polymorphism rs2291343 -
CDH7 Q9ULB5 VAR_061057 p.Asp370Glu Polymorphism rs2306675 -
CDH9 Q9ULB4 VAR_029799 p.Tyr6Cys Polymorphism rs2288467 -
CDH9 Q9ULB4 VAR_029800 p.Ala38Val Polymorphism rs2288466 -
CDHR1 Q96JP9 VAR_038744 p.His53Gln Polymorphism rs12781048 -
CDHR1 Q96JP9 VAR_038745 p.Ala212Thr Polymorphism - -
CDHR1 Q96JP9 VAR_038746 p.Ala243Val Polymorphism rs7086200 -
CDHR1 Q96JP9 VAR_038747 p.Pro532Ala Polymorphism - -
CDHR2 Q9BYE9 VAR_021548 p.Leu1164Met Polymorphism rs17078347 -
CDHR2 Q9BYE9 VAR_046695 p.Gln107His Polymorphism rs6886860 -
CDHR2 Q9BYE9 VAR_046696 p.Ala415Gly Polymorphism rs3762960 -
CDHR2 Q9BYE9 VAR_046697 p.Val424Ala Polymorphism rs11134982 -
CDHR2 Q9BYE9 VAR_046698 p.Leu766Pro Polymorphism rs752138 -
CDHR2 Q9BYE9 VAR_046699 p.Thr901Met Polymorphism rs35018750 -
CDHR2 Q9BYE9 VAR_046700 p.Val948Met Polymorphism rs3749625 -
CDHR2 Q9BYE9 VAR_046701 p.Thr1128Met Polymorphism rs2291442 -
CDHR2 Q9BYE9 VAR_054148 p.Pro1004Leu Unclassified - An acute myeloid leukemia sample
CDHR3 Q6ZTQ4 VAR_035228 p.Val55Met Polymorphism rs35008315 -
CDHR3 Q6ZTQ4 VAR_035229 p.Gln61His Polymorphism rs34426483 -
CDHR3 Q6ZTQ4 VAR_035230 p.Cys529Tyr Polymorphism rs6967330 -
CDHR4 A6H8M9 VAR_039109 p.Arg5Lys Polymorphism rs13072748 -
CDHR5 Q9HBB8 VAR_017920 p.Arg357Ser Polymorphism rs2246614 -
CDHR5 Q9HBB8 VAR_017921 p.Asp389Asn Polymorphism rs2306066 -
CDHR5 Q9HBB8 VAR_059192 p.Cys702Ser Polymorphism rs2740379 -
CDHR5 Q9HBB8 VAR_060412 p.Gln165Pro Polymorphism rs2740374 -
CDHR5 Q9HBB8 VAR_060413 p.Pro521Ser Polymorphism rs2740375 -
CDIPT O14735 VAR_048734 p.Arg199Cys Polymorphism rs1802002 -
CDK10 Q15131 VAR_041983 p.Pro96Leu Polymorphism - -
CDK10 Q15131 VAR_041984 p.Asn168Ser Polymorphism rs56340740 -
CDK10 Q15131 VAR_041985 p.Arg342His Polymorphism rs55757604 -
CDK10 Q15131 VAR_041986 p.Cys358Tyr Polymorphism rs56242003 -
CDK11A Q9UQ88 VAR_031716 p.Arg93Trp Polymorphism rs1059831 -
CDK11A Q9UQ88 VAR_031717 p.Leu402Ser Polymorphism rs1059828 -
CDK11A Q9UQ88 VAR_060152 p.Cys57Arg Polymorphism rs17424353 -
CDK11A Q9UQ88 VAR_060153 p.Val658Ala Polymorphism rs1059811 -
CDK11A Q9UQ88 VAR_062200 p.Ser92Pro Polymorphism rs7531938 -
CDK11B P21127 VAR_041958 p.Arg57Cys Polymorphism rs17424353 -
CDK11B P21127 VAR_041959 p.Arg201Trp Polymorphism - -
CDK11B P21127 VAR_041960 p.Ser414Leu Polymorphism - -
CDK11B P21127 VAR_041961 p.Ile463Val Polymorphism - -
CDK11B P21127 VAR_041962 p.Leu601Gln Polymorphism - -
CDK11B P21127 VAR_041963 p.Lys641Asn Polymorphism - -
CDK11B P21127 VAR_041964 p.Ala670Val Polymorphism rs1059811 -
CDK11B P21127 VAR_045577 p.Val452Ala Polymorphism - -
CDK11B P21127 VAR_045578 p.Gly506Ser Polymorphism - -
CDK11B P21127 VAR_057775 p.Arg93Trp Polymorphism rs1059831 -
CDK11B P21127 VAR_062199 p.Arg109Cys Polymorphism rs1059830 -
CDK12 Q9NYV4 VAR_041968 p.Pro530Ala Polymorphism rs56121596 -
CDK12 Q9NYV4 VAR_041969 p.Arg912His Unclassified - A colorectal adenocarcinoma sample
CDK12 Q9NYV4 VAR_041970 p.Leu1189Gln Polymorphism rs56362165 -
CDK12 Q9NYV4 VAR_041971 p.Pro1275Leu Polymorphism rs34070318 -
CDK13 Q14004 VAR_022381 p.Pro356Ala Polymorphism rs17537669 -
CDK13 Q14004 VAR_022382 p.Leu403Phe Polymorphism rs3735137 -
CDK13 Q14004 VAR_022383 p.Arg410Gln Polymorphism rs17496261 -
CDK13 Q14004 VAR_022384 p.Thr500Ala Polymorphism rs3735135 -
CDK13 Q14004 VAR_022385 p.Ser624Gly Polymorphism rs17496275 -
CDK13 Q14004 VAR_022386 p.Arg700Leu Polymorphism rs1057000 -
CDK13 Q14004 VAR_022387 p.Val1062Met Polymorphism rs17496712 -
CDK13 Q14004 VAR_041965 p.Thr494Ala Polymorphism rs34624759 -
CDK13 Q14004 VAR_041966 p.Thr670Arg Polymorphism rs34775357 -
CDK13 Q14004 VAR_041967 p.Val1170Met Polymorphism rs3204309 -
CDK13 Q14004 VAR_053926 p.Ser340Phe Polymorphism rs13622 -
CDK13 Q14004 VAR_066526 p.Gln103Arg Unclassified - -
CDK14 O94921 VAR_046765 p.Met432Ile Unclassified - An ovarian mucinous carcinoma
CDK14 O94921 VAR_046766 p.Ser463Arg Polymorphism - -
CDK15 Q96Q40 VAR_042016 p.Arg64Gly Polymorphism rs34776344 -
CDK15 Q96Q40 VAR_042017 p.Lys93Glu Unclassified - A renal clear cell carcinoma sample
CDK15 Q96Q40 VAR_042018 p.Gln127Arg Polymorphism rs56135556 -
CDK15 Q96Q40 VAR_042019 p.Thr255Ile Polymorphism rs34851370 -
CDK15 Q96Q40 VAR_042020 p.Glu276Asp Unclassified - A breast infiltrating ductal carcinoma sample
CDK17 Q00537 VAR_064743 p.Thr214Ile Unclassified - -
CDK18 Q07002 VAR_047802 p.Gly46Ser Polymorphism - -
CDK18 Q07002 VAR_047803 p.Gly65Arg Polymorphism - -
CDK18 Q07002 VAR_047804 p.Thr164Met Polymorphism - -
CDK2 P24941 VAR_016157 p.Tyr15Ser Polymorphism rs3087335 -
CDK2 P24941 VAR_019988 p.Thr290Ser Polymorphism rs2069413 -
CDK2 P24941 VAR_041972 p.Pro45Leu Unclassified - A glioblastoma multiforme sample
CDK2 P24941 VAR_053927 p.Val18Leu Polymorphism rs11554376 -
CDK20 Q8IZL9 VAR_024762 p.Ser86Leu Polymorphism rs28364953 -
CDK20 Q8IZL9 VAR_024763 p.Ala137Thr Polymorphism rs28364955 -
CDK20 Q8IZL9 VAR_024764 p.Lys281Arg Polymorphism rs28364963 -
CDK20 Q8IZL9 VAR_041957 p.Ser106Asn Polymorphism rs41286029 -
CDK3 Q00526 VAR_021101 p.Thr226Ile Polymorphism rs2069532 -
CDK3 Q00526 VAR_021102 p.Met264Thr Polymorphism rs17884251 -
CDK3 Q00526 VAR_041973 p.Ser106Asn Unclassified - A glioblastoma multiforme sample
CDK3 Q00526 VAR_041974 p.Ile124Thr Polymorphism rs34918446 -
CDK3 Q00526 VAR_041975 p.Arg214His Polymorphism rs34670267 -
CDK4 P11802 VAR_006200 p.Arg24Cys Disease rs11547328 Cutaneous malignant melanoma type 3 (CMM3) [MIM:609048]
CDK4 P11802 VAR_006201 p.Arg24His Disease - Cutaneous malignant melanoma type 3 (CMM3) [MIM:609048]
CDK4 P11802 VAR_021152 p.Asn41Ser Disease - Cutaneous malignant melanoma type 3 (CMM3) [MIM:609048]
CDK4 P11802 VAR_029153 p.Arg82Gln Polymorphism rs3211612 -
CDK4 P11802 VAR_041976 p.Arg122His Polymorphism rs34386532 -
CDK5 Q00535 VAR_041977 p.Glu225Asp Polymorphism rs35186917 -
CDK5RAP2 Q96SN8 VAR_017443 p.Glu289Gln Polymorphism rs4836822 -
CDK5RAP2 Q96SN8 VAR_017444 p.Val1540Leu Polymorphism rs4837768 -
CDK5RAP2 Q96SN8 VAR_032426 p.Arg1045Thr Polymorphism rs3780679 -
CDK5RAP2 Q96SN8 VAR_056831 p.Ala183Pro Polymorphism rs13287734 -
CDK5RAP2 Q96SN8 VAR_056832 p.Arg1607Ser Polymorphism rs16909747 -
CDK5RAP2 Q96SN8 VAR_059616 p.Asn1330Ile Polymorphism rs7875294 -
CDK5RAP3 Q96JB5 VAR_048688 p.Leu324Val Polymorphism rs35054799 -
CDK6 Q00534 VAR_041978 p.Asp110Asn Polymorphism rs35654944 -
CDK6 Q00534 VAR_041979 p.Pro199Leu Unclassified - A metastatic melanoma sample
CDK7 P50613 VAR_023118 p.Gly163Ala Polymorphism - -
CDK7 P50613 VAR_023119 p.Thr285Met Polymorphism rs34584424 -
CDK8 P49336 VAR_041980 p.Asp189Asn Unclassified - A lung neuroendocrine carcinoma sample
CDK8 P49336 VAR_041981 p.Arg424Cys Unclassified - A colorectal adenocarcinoma sample
CDK9 P50750 VAR_013456 p.Gly231Ala Polymorphism - -
CDK9 P50750 VAR_041982 p.Phe59Leu Polymorphism rs55640715 -
CDKAL1 Q5VV42 VAR_052705 p.Lys484Arg Polymorphism rs9460608 -
CDKL1 Q00532 VAR_020576 p.Leu66Pro Polymorphism rs11570814 -
CDKL1 Q00532 VAR_020577 p.Gln274Glu Polymorphism rs7161563 -
CDKL1 Q00532 VAR_020578 p.Leu329Val Polymorphism rs9323183 -
CDKL1 Q00532 VAR_020579 p.Lys341Asn Polymorphism rs11570886 -
CDKL2 Q92772 VAR_041987 p.Leu98Ile Unclassified - An ovarian papillary serous adenocarcinoma sample
CDKL2 Q92772 VAR_041988 p.Arg149Gln Unclassified - An ovarian mucinous carcinoma sample
CDKL2 Q92772 VAR_041989 p.Met197Thr Polymorphism rs56343717 -
CDKL2 Q92772 VAR_041990 p.Ala411Val Polymorphism rs56231363 -
CDKL2 Q92772 VAR_053928 p.Tyr77Ser Polymorphism rs35921414 -
CDKL2 Q92772 VAR_053929 p.Ile132Thr Polymorphism rs17000707 -
CDKL3 Q8IVW4 VAR_041991 p.Met394Thr Polymorphism rs35687772 -
CDKL4 Q5MAI5 VAR_041992 p.Ser38Pro Polymorphism rs35947084 -
CDKL4 Q5MAI5 VAR_041993 p.Arg53His Polymorphism rs35454041 -
CDKL4 Q5MAI5 VAR_041994 p.Phe228Cys Polymorphism rs56353587 -
CDKL4 Q5MAI5 VAR_041995 p.Ser288Tyr Polymorphism rs34819676 -
CDKL4 Q5MAI5 VAR_041996 p.Arg307Cys Polymorphism rs56330730 -
CDKL4 Q5MAI5 VAR_053930 p.His118Tyr Polymorphism rs6731369 -
CDKL5 O76039 VAR_023560 p.Cys152Phe Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_023561 p.Arg175Ser Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_023562 p.Gln791Pro Polymorphism rs35478150 -
CDKL5 O76039 VAR_036578 p.Asn368His Unclassified - A colorectal cancer sample
CDKL5 O76039 VAR_037635 p.Pro180Leu Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_037636 p.Val793Ala Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_037637 p.Val999Met Polymorphism rs35693326 -
CDKL5 O76039 VAR_041997 p.Ala374Thr Unclassified - A metastatic melanoma sample
CDKL5 O76039 VAR_041998 p.Pro574Gln Unclassified - An ovarian serous carcinoma sample
CDKL5 O76039 VAR_041999 p.Thr734Ala Polymorphism rs55803460 -
CDKL5 O76039 VAR_042000 p.Glu1023Gly Polymorphism rs34166184 -
CDKL5 O76039 VAR_058022 p.Ala40Val Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_058023 p.Ile72Asn Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_058024 p.Ile72Thr Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_058025 p.His127Arg Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_058026 p.Arg178Pro Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_058027 p.Leu220Pro Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_058028 p.Thr288Ile Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_058029 p.Cys291Tyr Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_058030 p.Asn399Thr Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_058031 p.Arg444Cys Polymorphism - -
CDKL5 O76039 VAR_058032 p.Val718Met Disease - Epileptic encephalopathy early infantile type 2 (EIEE2) [MIM:300672]
CDKL5 O76039 VAR_058033 p.Arg923Cys Polymorphism - -
CDKN1A P38936 VAR_011870 p.Ser31Arg Polymorphism rs1801270 -
CDKN1A P38936 VAR_014875 p.Asp149Gly Polymorphism rs1801724 -
CDKN1A P38936 VAR_048686 p.Pro4Leu Polymorphism rs4986866 -
CDKN1A P38936 VAR_048687 p.Phe63Leu Polymorphism rs4986867 -
CDKN1B P46527 VAR_011871 p.Arg15Trp Polymorphism rs2066828 -
CDKN1B P46527 VAR_011872 p.Val109Gly Polymorphism rs2066827 -
CDKN1B P46527 VAR_064429 p.Pro69Leu Unclassified - -
CDKN2A P42771 VAR_001408 p.Asp14Glu Unclassified - A biliary tract tumor
CDKN2A P42771 VAR_001409 p.Leu16Pro Unclassified - A biliary tract tumor
CDKN2A P42771 VAR_001410 p.Ala20Pro Unclassified - A lung tumor
CDKN2A P42771 VAR_001411 p.Ala20Ser Unclassified - A biliary tract tumor
CDKN2A P42771 VAR_001412 p.Gly23Asp Unclassified - A pancreas tumor
CDKN2A P42771 VAR_001413 p.Arg24Cys Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001414 p.Arg24Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001415 p.Glu26Asp Unclassified - A biliary tract tumor
CDKN2A P42771 VAR_001416 p.Leu32Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001417 p.Glu33Asp Unclassified - A biliary tract tumor
CDKN2A P42771 VAR_001418 p.Gly35Ala Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001419 p.Gly35Glu Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001420 p.Pro48Leu Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001421 p.Ile49Ser Unclassified - A biliary tract tumor
CDKN2A P42771 VAR_001422 p.Ile49Thr Polymorphism - -
CDKN2A P42771 VAR_001423 p.Gln50Arg Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001424 p.Met53Ile Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001425 p.Ser56Ile Polymorphism - -
CDKN2A P42771 VAR_001426 p.Ala57Val Unclassified - Pancreas carcinoma
CDKN2A P42771 VAR_001427 p.Val59Gly Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001428 p.Ala60Thr Polymorphism - -
CDKN2A P42771 VAR_001430 p.Leu62Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001431 p.His66Tyr Unclassified - Non-small cell lung carcinoma
CDKN2A P42771 VAR_001432 p.Ala68Leu Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001433 p.Ala68Thr Unclassified - An esophagus tumor
CDKN2A P42771 VAR_001434 p.Ala68Val Polymorphism - -
CDKN2A P42771 VAR_001435 p.Glu69Lys Unclassified - A bladder tumor
CDKN2A P42771 VAR_001436 p.Glu69Val Unclassified - A lung tumor
CDKN2A P42771 VAR_001437 p.Asn71Lys Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001438 p.Asn71Ser Polymorphism - -
CDKN2A P42771 VAR_001439 p.Cys72Gly Unclassified - An esophagus tumor
CDKN2A P42771 VAR_001440 p.Asp74Asn Unclassified - A bladder tumor
CDKN2A P42771 VAR_001441 p.Asp74Val Unclassified - A biliary tract tumor
CDKN2A P42771 VAR_001442 p.Arg80Leu Unclassified - Neck tumor
CDKN2A P42771 VAR_001443 p.Pro81Leu Unclassified rs11552823 Some patients with melanoma
CDKN2A P42771 VAR_001444 p.His83Tyr Unclassified - A head and neck tumor
CDKN2A P42771 VAR_001445 p.His83Asn Unclassified - A lung tumor
CDKN2A P42771 VAR_001446 p.Asp84Glu Unclassified - A bladder tumor
CDKN2A P42771 VAR_001447 p.Asp84His Unclassified - Non-small cell lung carcinoma
CDKN2A P42771 VAR_001448 p.Asp84Asn Unclassified - Neck and a lung tumor
CDKN2A P42771 VAR_001449 p.Asp84Tyr Disease rs11552822 Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001450 p.Ala85Thr Polymorphism - -
CDKN2A P42771 VAR_001451 p.Arg87Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001452 p.Glu88Asp Unclassified - A biliary tract tumor
CDKN2A P42771 VAR_001453 p.Gly89Asp Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001454 p.Gly89Ser Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001455 p.Thr93Ala Unclassified - Non-small cell lung carcinoma
CDKN2A P42771 VAR_001456 p.Val95Ala Unclassified - Non-small cell lung carcinoma
CDKN2A P42771 VAR_001457 p.Leu97Arg Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001458 p.His98Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001459 p.His98Gln Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001460 p.Arg99Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001461 p.Arg99Gln Unclassified - Non-small cell lung carcinoma
CDKN2A P42771 VAR_001462 p.Ala100Leu Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001463 p.Ala100Pro Polymorphism - -
CDKN2A P42771 VAR_001464 p.Gly101Trp Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001464 p.Gly101Trp Disease - Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719]
CDKN2A P42771 VAR_001466 p.Arg107Cys Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001467 p.Arg107His Polymorphism - -
CDKN2A P42771 VAR_001468 p.Asp108Tyr Unclassified - Neck tumor
CDKN2A P42771 VAR_001469 p.Asp108His Unclassified - A bladder tumor
CDKN2A P42771 VAR_001470 p.Pro114Leu Unclassified - Non-small cell lung carcinoma
CDKN2A P42771 VAR_001471 p.Leu117Met Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001472 p.Ala118Thr Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001473 p.Glu119Gln Unclassified - A biliary tract tumor
CDKN2A P42771 VAR_001474 p.Glu120Ala Unclassified - Non-small cell lung carcinoma
CDKN2A P42771 VAR_001475 p.Glu120Lys Unclassified - Non-small cell lung carcinoma
CDKN2A P42771 VAR_001476 p.Gly122Ser Unclassified - A biliary tract tumor
CDKN2A P42771 VAR_001477 p.His123Gln Unclassified rs6413463 Leukemia
CDKN2A P42771 VAR_001478 p.Arg124His Unclassified - An esophagus tumor
CDKN2A P42771 VAR_001479 p.Val126Asp Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_001480 p.Ala127Ser Unclassified rs6413464 Squamous cell carcinoma
CDKN2A P42771 VAR_001481 p.Ala132Pro Unclassified - Non-small cell lung carcinoma
CDKN2A P42771 VAR_001482 p.Ala134Val Unclassified - Non-small cell lung carcinoma
CDKN2A P42771 VAR_001483 p.His142Tyr Unclassified - Non-small cell lung carcinoma
CDKN2A P42771 VAR_001484 p.Arg144Cys Unclassified - Squamous cell carcinoma
CDKN2A P42771 VAR_001486 p.Ala148Thr Polymorphism rs3731249 -
CDKN2A P42771 VAR_001487 p.Gly150Val Unclassified - Non-small cell lung carcinoma
CDKN2A P42771 VAR_012317 p.Arg87Trp Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_015818 p.Ala102Glu Disease - Li-Fraumeni syndrome (LFS) [MIM:151623]
CDKN2A P42771 VAR_023604 p.Leu94Gln Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_035069 p.Gly122Arg Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_053027 p.Arg58Gln Polymorphism rs36204273 -
CDKN2A P42771 VAR_053028 p.Ala60Val Unclassified rs36204594 Melanoma
CDKN2A P42771 VAR_053029 p.His83Gln Polymorphism rs34968276 -
CDKN2A P42771 VAR_053030 p.Arg99Trp Polymorphism rs34886500 -
CDKN2A P42771 VAR_053031 p.Ala102Thr Polymorphism rs35741010 -
CDKN2A P42771 VAR_053032 p.Arg124Cys Polymorphism rs34170727 -
CDKN2A P42771 VAR_058550 p.Arg24Gln Unclassified - -
CDKN2A P42771 VAR_058551 p.Gly35Val Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_058553 p.Gly67Arg Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_058554 p.Glu69Gly Unclassified - -
CDKN2A P42771 VAR_058555 p.Asp74Tyr Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_058556 p.Thr77Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_058557 p.Arg80Pro Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_058558 p.Pro81Thr Disease - Cutaneous malignant melanoma type 2 (CMM2) [MIM:155601]
CDKN2A P42771 VAR_058559 p.Pro114Ser Unclassified - -
CDKN2A Q8N726 VAR_029287 p.Pro58Ser Polymorphism rs3731190 -
CDKN2A Q8N726 VAR_053033 p.Gly147Arg Polymorphism rs4987127 -
CDKN2A Q8N726 VAR_053034 p.Pro154Leu Polymorphism rs34886500 -
CDKN2A Q8N726 VAR_053035 p.Gly157Asp Polymorphism rs35741010 -
CDKN2B P42772 VAR_001488 p.Gly47Glu Unclassified - Lung adenocarcinoma
CDKN2B P42772 VAR_001489 p.Ala50Val Unclassified - Lung adenocarcinoma
CDKN2C P42773 VAR_001490 p.Ala72Pro Unclassified - Breast cancer
CDKN2C P42773 VAR_038604 p.Thr126Met Polymorphism rs17851380 -
CDKN3 Q16667 VAR_013842 p.Trp31Arg Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550]
CDKN3 Q16667 VAR_013843 p.Phe78Leu Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550]
CDKN3 Q16667 VAR_013844 p.Cys79Tyr Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550]
CDKN3 Q16667 VAR_013845 p.Asn91Lys Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550]
CDKN3 Q16667 VAR_013846 p.Asp94Val Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550]
CDKN3 Q16667 VAR_013847 p.Leu95Phe Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550]
CDKN3 Q16667 VAR_013848 p.Ile108Val Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550]
CDKN3 Q16667 VAR_013849 p.Asn187Ser Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550]
CDKN3 Q16667 VAR_013850 p.Lys195Ile Disease - Patients with hepatocellular carcinoma (HCC) [MIM:114550]
CDKN3 Q16667 VAR_051769 p.Ser159Phe Polymorphism rs1803843 -
CDO1 Q16878 VAR_023536 p.Thr45Ile Polymorphism rs1042867 -
CDO1 Q16878 VAR_036170 p.Glu143Gln Unclassified - A colorectal cancer sample
CDON Q4KMG0 VAR_056038 p.Lys66Arg Polymorphism rs7122277 -
CDON Q4KMG0 VAR_056039 p.Glu162Lys Polymorphism rs3740909 -
CDON Q4KMG0 VAR_056040 p.Pro351Ala Polymorphism rs35665264 -
CDON Q4KMG0 VAR_056041 p.Ala686Val Polymorphism rs12274923 -
CDON Q4KMG0 VAR_066497 p.Thr684Ser Disease - Holoprosencephaly type 11 (HPE11) [MIM:614226]
CDON Q4KMG0 VAR_066498 p.Pro689Ala Disease - Holoprosencephaly type 11 (HPE11) [MIM:614226]
CDON Q4KMG0 VAR_066499 p.Val691Met Disease - Holoprosencephaly type 11 (HPE11) [MIM:614226]
CDON Q4KMG0 VAR_066500 p.Val780Glu Disease - Holoprosencephaly type 11 (HPE11) [MIM:614226]
CDON Q4KMG0 VAR_066501 p.Thr790Ala Disease - Holoprosencephaly type 11 (HPE11) [MIM:614226]
CDON Q4KMG0 VAR_066502 p.Ser940Arg Disease - Holoprosencephaly type 11 (HPE11) [MIM:614226]
CDR2L Q86X02 VAR_035384 p.Asp300Glu Polymorphism rs36057512 -
CDRT1 O95170 VAR_038340 p.Phe643Leu Polymorphism rs8078150 -
CDRT15 Q96T59 VAR_038121 p.Arg24Gln Polymorphism rs17679866 -
CDRT4 Q8N9R6 VAR_038119 p.Val72Ile Polymorphism rs3744332 -
CDRT4 Q8N9R6 VAR_038120 p.His121Gln Polymorphism rs2954759 -
CDS1 Q92903 VAR_036129 p.Lys204Thr Unclassified - A breast cancer sample
CDS1 Q92903 VAR_048736 p.Leu99Phe Polymorphism rs36068434 -
CDSN Q15517 VAR_022615 p.Met18Leu Polymorphism rs3095318 -
CDSN Q15517 VAR_022616 p.Asn143Ser Polymorphism rs3130984 -
CDSN Q15517 VAR_022618 p.Ser202Phe Polymorphism rs707913 -
CDSN Q15517 VAR_022619 p.Ser408Ala Polymorphism rs1042127 -
CDSN Q15517 VAR_022620 p.Ser410Leu Polymorphism rs3132554 -
CDSN Q15517 VAR_022621 p.Asp527Asn Polymorphism rs3130981 -
CDSN Q15517 VAR_022637 p.Leu56Phe Polymorphism rs7742033 -
CDSN Q15517 VAR_022639 p.Ser150Asn Polymorphism - -
CDSN Q15517 VAR_022641 p.Ser401Gly Polymorphism rs33941312 -
CDSN Q15517 VAR_046010 p.Gly145Ser Polymorphism rs6457328 -
CDT1 Q9H211 VAR_024408 p.Ala537Val Polymorphism rs3218721 -
CDT1 Q9H211 VAR_029163 p.Ala135Val Polymorphism rs3218725 -
CDT1 Q9H211 VAR_029164 p.Arg172Cys Polymorphism rs3218727 -
CDT1 Q9H211 VAR_029165 p.Glu456Ala Polymorphism rs3218729 -
CDT1 Q9H211 VAR_054504 p.Cys234Arg Polymorphism rs507329 -
CDT1 Q9H211 VAR_054505 p.Thr262Ala Polymorphism rs480727 -
CDT1 Q9H211 VAR_065488 p.Ala66Thr Disease - Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804]
CDT1 Q9H211 VAR_065489 p.Gln117His Disease - Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804]
CDT1 Q9H211 VAR_065490 p.Arg453Trp Disease - Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804]
CDT1 Q9H211 VAR_065491 p.Arg462Gln Disease - Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804]
CDT1 Q9H211 VAR_065492 p.Glu468Lys Disease - Meier-Gorlin syndrome type 4 (MGORS4) [MIM:613804]
CDX1 P47902 VAR_020149 p.Pro130Arg Polymorphism rs2302275 -
CDX2 Q99626 VAR_014530 p.Pro293Ser Polymorphism rs1805107 -
CDYL Q9Y232 VAR_032936 p.Thr2Ala Polymorphism rs3812179 -
CDYL Q9Y232 VAR_032937 p.Ser9Pro Polymorphism rs3812178 -
CDYL Q9Y232 VAR_032938 p.Val48Ala Polymorphism rs13196069 -
CDYL Q9Y232 VAR_032939 p.Ala60Gly Polymorphism rs28360500 -
CEACAM1 P13688 VAR_049844 p.Gln35Lys Polymorphism rs8111171 -
CEACAM1 P13688 VAR_049845 p.Ala83Val Polymorphism rs8110904 -
CEACAM1 P13688 VAR_049846 p.Gln123His Polymorphism rs8111468 -
CEACAM1 P13688 VAR_049847 p.Gln376Arg Polymorphism rs41355544 -
CEACAM16 Q2WEN9 VAR_049853 p.Val31Phe Polymorphism rs2119660 -
CEACAM18 A8MTB9 VAR_043976 p.Leu221His Polymorphism rs8106673 -
CEACAM18 A8MTB9 VAR_043977 p.Thr222Ala Polymorphism rs12610545 -
CEACAM18 A8MTB9 VAR_064701 p.Ala14Pro Polymorphism rs11878388 -
CEACAM20 Q6UY09 VAR_056030 p.Ala41Val Polymorphism rs10408247 -
CEACAM20 Q6UY09 VAR_056031 p.Arg113His Polymorphism rs13345196 -
CEACAM20 Q6UY09 VAR_056032 p.Ile127Val Polymorphism rs35443082 -
CEACAM20 Q6UY09 VAR_056033 p.Ser355Leu Polymorphism rs16959164 -
CEACAM20 Q6UY09 VAR_056034 p.Ser369Phe Polymorphism rs10414398 -
CEACAM20 Q6UY09 VAR_059385 p.Cys512Arg Polymorphism rs8100718 -
CEACAM20 Q6UY09 VAR_061312 p.Thr87Ile Polymorphism rs36053277 -
CEACAM21 Q3KPI0 VAR_034651 p.Thr121Asn Polymorphism rs714106 -
CEACAM21 Q3KPI0 VAR_034652 p.Met198Val Polymorphism rs2302188 -
CEACAM3 P40198 VAR_003905 p.Ser7Pro Polymorphism rs1041999 -
CEACAM4 O75871 VAR_038404 p.His29Asp Polymorphism rs1126454 -
CEACAM4 O75871 VAR_038405 p.Lys69Arg Polymorphism rs3848568 -
CEACAM5 P06731 VAR_024493 p.Lys398Glu Polymorphism rs7249230 -
CEACAM5 P06731 VAR_031091 p.Ala340Asp Polymorphism rs10407503 -
CEACAM5 P06731 VAR_031092 p.Arg664Ser Polymorphism rs10423171 -
CEACAM5 P06731 VAR_056028 p.Gln137Pro Polymorphism rs3815780 -
CEACAM5 P06731 VAR_056029 p.Gly678Arg Polymorphism rs11545767 -
CEACAM5 P06731 VAR_061310 p.Ile80Val Polymorphism rs12971352 -
CEACAM5 P06731 VAR_061311 p.Val83Ala Polymorphism rs28683503 -
CEACAM6 P40199 VAR_034680 p.Gly239Val Polymorphism rs11548735 -
CEACAM7 Q14002 VAR_024494 p.Phe120Ile Polymorphism rs8102488 -
CEACAM7 Q14002 VAR_049848 p.Ala263Val Polymorphism rs7259532 -
CEACAM7 Q14002 VAR_059384 p.Tyr236His Polymorphism rs16975478 -
CEACAM8 P31997 VAR_011721 p.Arg114Lys Polymorphism rs1041997 -
CEACAM8 P31997 VAR_049849 p.Gly17Val Polymorphism rs28367882 -
CEACAM8 P31997 VAR_049850 p.Ala45Val Polymorphism rs35221575 -
CEACAM8 P31997 VAR_049851 p.Leu322Val Polymorphism rs45476198 -
CEACAM8 P31997 VAR_049852 p.Ile340Met Polymorphism rs8103051 -
CEBPB P17676 VAR_016300 p.Gly195Ser Polymorphism rs4253440 -
CEBPD P49716 VAR_037087 p.Arg248Trp Polymorphism rs34948549 -
CEBPZ Q03701 VAR_026043 p.Val102Ile Polymorphism rs2098386 -
CEBPZ Q03701 VAR_031399 p.Pro15Ser Polymorphism rs3213746 -
CEBPZ Q03701 VAR_031400 p.Lys303Arg Polymorphism rs17020328 -
CEBPZ Q03701 VAR_055622 p.Asn639Ser Polymorphism rs3180252 -
CECR1 Q9NZK5 VAR_029802 p.His335Arg Polymorphism rs2231495 -
CECR2 Q9BXF3 VAR_027411 p.Arg293His Polymorphism rs5747211 -
CECR2 Q9BXF3 VAR_027412 p.Pro674Leu Polymorphism rs1296794 -
CECR5 Q9BXW7 VAR_033674 p.Arg369Ser Polymorphism rs16982020 -
CECR5 Q9BXW7 VAR_050790 p.Thr179Met Polymorphism rs35665085 -
CECR5 Q9BXW7 VAR_050791 p.Arg416Cys Polymorphism rs35327402 -
CELA1 Q9UNI1 VAR_033645 p.Gln10His Polymorphism rs17860287 -
CELA1 Q9UNI1 VAR_033646 p.Arg44Trp Polymorphism rs17860299 -
CELA1 Q9UNI1 VAR_033647 p.Met59Val Polymorphism rs17860300 -
CELA1 Q9UNI1 VAR_033648 p.Gln243Arg Polymorphism rs17860364 -
CELA1 Q9UNI1 VAR_036295 p.Gly76Ala Unclassified - A breast cancer sample
CELA2A P08217 VAR_051837 p.Asn257Ser Polymorphism rs2303193 -
CELA2B P08218 VAR_044534 p.Gly79Arg Polymorphism rs3820071 -
CELA2B P08218 VAR_044535 p.Asp114Asn Polymorphism rs3766160 -
CELA2B P08218 VAR_044536 p.Gln177Arg Polymorphism rs6429745 -
CELA2B P08218 VAR_044537 p.Gly235Ser Polymorphism rs3737703 -
CELA3A P09093 VAR_051838 p.Ala241Gly Polymorphism rs3820285 -
CELA3A P09093 VAR_059783 p.His24Arg Polymorphism rs7531336 -
CELA3A P09093 VAR_059784 p.Ser25Pro Polymorphism rs7533776 -
CELA3A P09093 VAR_059785 p.His31Asn Polymorphism rs7519660 -
CELA3B P08861 VAR_025446 p.Arg79Trp Polymorphism rs7528405 -
CELF2 O95319 VAR_052202 p.Asp438His Polymorphism rs1050942 -
CELF4 Q9BZC1 VAR_052203 p.Gly388Ser Polymorphism rs12458669 -
CELF5 Q8N6W0 VAR_033264 p.Phe65Leu Polymorphism rs17854481 -
CELF6 Q96J87 VAR_033265 p.Arg152Pro Polymorphism rs34566074 -
CELSR1 Q9NYQ6 VAR_016094 p.Ser664Trp Polymorphism rs4823850 -
CELSR1 Q9NYQ6 VAR_016095 p.Cys1126Arg Polymorphism rs4823561 -
CELSR1 Q9NYQ6 VAR_024479 p.Ile2107Val Polymorphism rs4044210 -
CELSR1 Q9NYQ6 VAR_024480 p.Thr2268Ala Polymorphism rs6007897 -
CELSR1 Q9NYQ6 VAR_049464 p.Ile587Val Polymorphism rs34141466 -
CELSR1 Q9NYQ6 VAR_049465 p.Val1242Ile Polymorphism rs6008842 -
CELSR1 Q9NYQ6 VAR_049466 p.Tyr1894His Polymorphism rs34467708 -
CELSR1 Q9NYQ6 VAR_049467 p.Leu1994Pro Polymorphism rs6008795 -
CELSR1 Q9NYQ6 VAR_049468 p.Leu1995Pro Polymorphism rs6008794 -
CELSR1 Q9NYQ6 VAR_049469 p.Thr2045Met Polymorphism rs12169391 -
CELSR1 Q9NYQ6 VAR_049470 p.Arg2219His Polymorphism rs34267201 -
CELSR1 Q9NYQ6 VAR_049471 p.Cys2797Ser Polymorphism rs12165943 -
CELSR1 Q9NYQ6 VAR_049472 p.Glu2903Gln Polymorphism rs9615351 -
CELSR1 Q9NYQ6 VAR_049473 p.Gly2948Ser Polymorphism rs35364389 -
CELSR2 Q9HCU4 VAR_024481 p.Tyr1639His Polymorphism rs653635 -
CELSR2 Q9HCU4 VAR_049474 p.Arg1066Gln Polymorphism rs12083590 -
CELSR2 Q9HCU4 VAR_049475 p.Gly1992Arg Polymorphism rs12567377 -
CELSR2 Q9HCU4 VAR_049476 p.Thr2387Ala Polymorphism rs17035649 -
CELSR3 Q9NYQ7 VAR_020022 p.Ala157Pro Polymorphism rs3733085 -
CELSR3 Q9NYQ7 VAR_020023 p.Ser805Thr Polymorphism rs3821875 -
CELSR3 Q9NYQ7 VAR_055101 p.Gln1758Arg Polymorphism rs12107252 -
CEMP1 Q6PRD7 VAR_050792 p.Lys55Glu Polymorphism rs13331643 -
CENPE Q02224 VAR_049689 p.Phe1535Leu Polymorphism rs2615542 -
CENPE Q02224 VAR_049690 p.Ser1581Arg Polymorphism rs35100664 -
CENPE Q02224 VAR_049691 p.Glu1925Asp Polymorphism rs2306106 -
CENPE Q02224 VAR_049692 p.Thr2090Met Polymorphism rs2243682 -
CENPE Q02224 VAR_059370 p.Ser1911Thr Polymorphism rs1381657 -
CENPF P49454 VAR_014839 p.Asn3202Lys Polymorphism rs7289 -
CENPF P49454 VAR_034712 p.Arg300Cys Polymorphism rs17023281 -
CENPF P49454 VAR_034713 p.His494Gln Polymorphism rs2070065 -
CENPF P49454 VAR_034714 p.Met701Val Polymorphism rs3795524 -
CENPF P49454 VAR_034715 p.Gln754Glu Polymorphism rs3795523 -
CENPF P49454 VAR_034716 p.Arg815His Polymorphism rs3795522 -
CENPF P49454 VAR_034717 p.Tyr1018Asp Polymorphism rs3795519 -
CENPF P49454 VAR_034718 p.Gly1033Arg Polymorphism rs3795518 -
CENPF P49454 VAR_034719 p.Thr1105Ile Polymorphism rs12067133 -
CENPF P49454 VAR_034720 p.Leu1412Ser Polymorphism rs3795517 -
CENPF P49454 VAR_034721 p.Ala1515Thr Polymorphism rs2666839 -
CENPF P49454 VAR_034722 p.Lys1539Arg Polymorphism rs3795514 -
CENPF P49454 VAR_034723 p.Glu2011Ala Polymorphism rs3790647 -
CENPF P49454 VAR_055049 p.Gln250Leu Polymorphism rs1050065 -
CENPF P49454 VAR_055050 p.Asp272Gly Polymorphism rs1050066 -
CENPF P49454 VAR_055638 p.Asp1864Asn Polymorphism rs3748692 -
CENPH Q9H3R5 VAR_036167 p.Glu2Lys Unclassified - A colorectal cancer sample
CENPJ Q9HC77 VAR_032427 p.Met21Val Polymorphism rs35498994 -
CENPJ Q9HC77 VAR_032428 p.Pro55Ala Polymorphism rs17081389 -
CENPJ Q9HC77 VAR_032429 p.Asp63His Polymorphism rs7336216 -
CENPJ Q9HC77 VAR_032430 p.Pro85Thr Polymorphism rs9511510 -
CENPJ Q9HC77 VAR_032431 p.Glu151Gly Polymorphism rs34177811 -
CENPJ Q9HC77 VAR_032432 p.Ser879Ala Polymorphism rs17402892 -
CENPJ Q9HC77 VAR_032433 p.Glu1235Val Disease - Microcephaly primary type 6 (MCPH6) [MIM:608393]
CENPL Q8N0S6 VAR_027081 p.Ile117Phe Polymorphism rs12086855 -
CENPN Q96H22 VAR_027419 p.Glu84Asp Polymorphism rs935939 -
CENPN Q96H22 VAR_048689 p.Gln223Arg Polymorphism rs11641523 -
CENPN Q96H22 VAR_048690 p.Glu288Lys Polymorphism rs2549887 -
CENPO Q9BU64 VAR_027420 p.Gln34Arg Polymorphism rs1550116 -
CENPQ Q7L2Z9 VAR_022857 p.Gly63Arg Polymorphism rs4267943 -
CENPQ Q7L2Z9 VAR_024303 p.Asp266Gly Polymorphism rs2501968 -
CENPT Q96BT3 VAR_027421 p.Pro115Leu Polymorphism rs12102580 -
CEP104 O60308 VAR_020042 p.Ala686Val Polymorphism rs2275831 -
CEP104 O60308 VAR_034036 p.Leu414Ile Polymorphism rs2275824 -
CEP112 Q8N8E3 VAR_050752 p.Lys551Glu Polymorphism rs17704679 -
CEP120 Q8N960 VAR_046126 p.Leu602Val Polymorphism rs6595440 -
CEP120 Q8N960 VAR_046127 p.Gln879His Polymorphism rs1047437 -
CEP120 Q8N960 VAR_046128 p.Val936Ile Polymorphism rs2303721 -
CEP120 Q8N960 VAR_046129 p.Arg947His Polymorphism rs2303720 -
CEP128 Q6ZU80 VAR_037835 p.Arg16Leu Polymorphism rs7160694 -
CEP128 Q6ZU80 VAR_037836 p.His732Arg Polymorphism rs327463 -
CEP135 Q66GS9 VAR_057785 p.Ile769Leu Polymorphism rs3214045 -
CEP152 O94986 VAR_047932 p.Ser54Leu Polymorphism rs2289181 -
CEP152 O94986 VAR_050779 p.Ser793Ile Polymorphism rs2289178 -
CEP152 O94986 VAR_050780 p.Leu914Val Polymorphism rs16961560 -
CEP152 O94986 VAR_050781 p.Val1106Ala Polymorphism rs16961557 -
CEP152 O94986 VAR_063813 p.Gln265Pro Disease - Microcephaly primary type 4 (MCPH4) [MIM:604321]
CEP152 O94986 VAR_065258 p.Lys667Arg Disease - Seckel syndrome type 5 (SCKL5) [MIM:613823]
CEP164 Q9UPV0 VAR_037511 p.Ser94Asn Polymorphism rs490262 -
CEP164 Q9UPV0 VAR_037512 p.Thr988Ser Polymorphism rs2305830 -
CEP164 Q9UPV0 VAR_037513 p.Gln1119Arg Polymorphism rs573455 -
CEP170 Q5SW79 VAR_031437 p.Gly213Ser Polymorphism rs2631092 -
CEP192 Q8TEP8 VAR_037514 p.Thr457Ala Polymorphism rs10048340 -
CEP192 Q8TEP8 VAR_037515 p.Val769Met Polymorphism rs2282542 -
CEP192 Q8TEP8 VAR_050782 p.Gln513Pro Polymorphism rs11080623 -
CEP192 Q8TEP8 VAR_050783 p.Arg948His Polymorphism rs7228940 -
CEP192 Q8TEP8 VAR_050784 p.Ser956Pro Polymorphism rs578208 -
CEP192 Q8TEP8 VAR_050785 p.Leu1105Phe Polymorphism rs6505780 -
CEP192 Q8TEP8 VAR_050786 p.Ser1455Asn Polymorphism rs2027698 -
CEP192 Q8TEP8 VAR_050787 p.Leu1525Pro Polymorphism rs474337 -
CEP192 Q8TEP8 VAR_050788 p.Lys1675Glu Polymorphism rs3737379 -
CEP192 Q8TEP8 VAR_050789 p.Arg1853Leu Polymorphism rs1786263 -
CEP250 Q9BV73 VAR_015649 p.Gln995His Polymorphism rs2296403 -
CEP250 Q9BV73 VAR_021858 p.Arg1441Gln Polymorphism rs3748433 -
CEP250 Q9BV73 VAR_050898 p.Gln1072Glu Polymorphism rs17092706 -
CEP290 O15078 VAR_028356 p.Trp7Cys Disease - Joubert syndrome type 5 (JBTS5) [MIM:610188]
CEP290 O15078 VAR_028356 p.Trp7Cys Disease - Senior-Loken syndrome type 6 (SLSN6) [MIM:610189]
CEP290 O15078 VAR_031058 p.Lys838Glu Polymorphism rs11104738 -
CEP290 O15078 VAR_031059 p.Leu906Trp Polymorphism rs7970228 -
CEP290 O15078 VAR_031060 p.Arg1237His Polymorphism rs7307793 -
CEP290 O15078 VAR_031061 p.Ile1836Val Polymorphism rs11104729 -
CEP290 O15078 VAR_064397 p.Glu277Gln Polymorphism - -
CEP290 O15078 VAR_064398 p.Asp664Gly Unclassified - -
CEP290 O15078 VAR_064399 p.Ala1566Pro Polymorphism - -
CEP290 O15078 VAR_064400 p.Leu1694Pro Polymorphism - -
CEP290 O15078 VAR_064401 p.Asn2228Lys Polymorphism - -
CEP350 Q5VT06 VAR_026126 p.Glu945Gln Polymorphism rs2477120 -
CEP350 Q5VT06 VAR_048671 p.Thr1445Ala Polymorphism rs16855164 -
CEP350 Q5VT06 VAR_059202 p.Arg892Thr Polymorphism rs6692219 -
CEP350 Q5VT06 VAR_059203 p.Gly1213Val Polymorphism rs12125245 -
CEP350 Q5VT06 VAR_059204 p.Thr1446Ala Polymorphism rs16855164 -
CEP350 Q5VT06 VAR_059205 p.Ser1517Ala Polymorphism rs12124336 -
CEP350 Q5VT06 VAR_061092 p.Thr2044Pro Polymorphism rs56173179 -
CEP44 Q9C0F1 VAR_033116 p.Gly147Ser Polymorphism rs4695918 -
CEP55 Q53EZ4 VAR_022996 p.Thr99Ala Polymorphism rs7080916 -
CEP55 Q53EZ4 VAR_022997 p.His378Leu Polymorphism rs2293277 -
CEP55 Q53EZ4 VAR_026559 p.His57Gln Polymorphism rs3740370 -
CEP55 Q53EZ4 VAR_056791 p.Cys236Arg Polymorphism rs7072484 -
CEP57 Q86XR8 VAR_059839 p.Arg448Gly Polymorphism rs644799 -
CEP57L1 Q8IYX8 VAR_052396 p.Asp194Glu Polymorphism rs351733 -
CEP63 Q96MT8 VAR_020604 p.Ser651Leu Polymorphism rs1127826 -
CEP68 Q76N32 VAR_022363 p.Gly74Ser Polymorphism rs7572857 -
CEP68 Q76N32 VAR_050794 p.Arg27Gly Polymorphism rs12611491 -
CEP68 Q76N32 VAR_050795 p.Leu397Pro Polymorphism rs35501092 -
CEP68 Q76N32 VAR_050796 p.Arg462Cys Polymorphism rs35694840 -
CEP68 Q76N32 VAR_050797 p.Glu473Gln Polymorphism rs35089924 -
CEP70 Q8NHQ1 VAR_021177 p.Ser135Asn Polymorphism rs1673607 -
CEP70 Q8NHQ1 VAR_061590 p.Asn537Ser Polymorphism rs35340237 -
CEP72 Q9P209 VAR_050798 p.Pro238Leu Polymorphism rs869955 -
CEP72 Q9P209 VAR_050799 p.Pro412Thr Polymorphism rs12522955 -
CEP72 Q9P209 VAR_050800 p.Thr509Ala Polymorphism rs868649 -
CEP85 Q6P2H3 VAR_033665 p.Ala542Thr Polymorphism rs7550997 -
CEP85 Q6P2H3 VAR_053938 p.Arg48His Polymorphism rs35831900 -
CEP85 Q6P2H3 VAR_053939 p.Ser213Asn Polymorphism rs3795686 -
CEP85 Q6P2H3 VAR_053940 p.Gln668His Polymorphism rs36013141 -
CEP89 Q96ST8 VAR_063122 p.Arg194Trp Polymorphism rs3764633 -
CEP89 Q96ST8 VAR_063123 p.Val398Ala Polymorphism rs4805825 -
CEP95 Q96GE4 VAR_033666 p.Met165Ile Polymorphism rs9910506 -
CEP95 Q96GE4 VAR_050751 p.Ala811Val Polymorphism rs11550922 -
CER1 O95813 VAR_021591 p.Arg19Trp Polymorphism rs10115703 -
CER1 O95813 VAR_021592 p.Ala65Gly Polymorphism rs3747532 -
CER1 O95813 VAR_021593 p.Val179Ile Polymorphism rs7036635 -
CERK Q8TCT0 VAR_053685 p.Ile191Val Polymorphism rs16995615 -
CERK Q8TCT0 VAR_053686 p.Thr211Met Polymorphism rs9306515 -
CERK Q8TCT0 VAR_053687 p.Leu306Phe Polymorphism rs13057352 -
CERKL Q49MI3 VAR_053688 p.Leu232Phe Polymorphism rs10185262 -
CERKL Q49MI3 VAR_053689 p.Glu514Gly Polymorphism rs35955809 -
CERKL Q49MI3 VAR_065182 p.Arg106Ser Disease - Retinitis pigmentosa type 26 (RP26) [MIM:608380]
CERS2 Q96G23 VAR_052325 p.Glu115Ala Polymorphism rs267738 -
CERS3 Q8IU89 VAR_019328 p.Arg370Gly Polymorphism rs2439928 -
CERS3 Q8IU89 VAR_057276 p.Asp342Gly Polymorphism rs1023783 -
CERS3 Q8IU89 VAR_061847 p.Tyr45Cys Polymorphism rs60405735 -
CERS4 Q9HA82 VAR_019556 p.Gly301Ser Polymorphism rs2288413 -
CERS4 Q9HA82 VAR_019557 p.Ala366Thr Polymorphism rs36259 -
CERS4 Q9HA82 VAR_034065 p.Arg119Gln Polymorphism rs17159388 -
CERS4 Q9HA82 VAR_060263 p.Ala353Val Polymorphism rs17160348 -
CERS4 Q9HA82 VAR_060264 p.Arg379Gln Polymorphism rs17160349 -
CERS5 Q8N5B7 VAR_019558 p.Cys75Arg Polymorphism rs7302981 -
CES1 P23141 VAR_014314 p.Ser75Asn Polymorphism rs2307240 -
CES1 P23141 VAR_014594 p.Arg199His Polymorphism rs2307243 -
CES1 P23141 VAR_014595 p.Asp203Glu Polymorphism rs2307227 -
CES1 P23141 VAR_046954 p.Gly143Glu Unclassified - -
CES2 O00748 VAR_018396 p.Arg34Trp Polymorphism - -
CES2 O00748 VAR_018397 p.Arg206His Polymorphism - -
CES3 Q6UWW8 VAR_060699 p.Val129Ile Polymorphism - -
CES3 Q6UWW8 VAR_060700 p.Ala151Thr Polymorphism - -
CES3 Q6UWW8 VAR_060701 p.Tyr160His Polymorphism - -
CES3 Q6UWW8 VAR_060702 p.Glu191Lys Polymorphism - -
CES3 Q6UWW8 VAR_060703 p.Ile213Asn Polymorphism - -
CES3 Q6UWW8 VAR_060704 p.Arg367Trp Polymorphism - -
CES3 Q6UWW8 VAR_060705 p.Ala523Val Polymorphism - -
CES3 Q6UWW8 VAR_060706 p.Ile555Val Polymorphism - -
CES5A Q6NT32 VAR_036836 p.Arg71Gln Polymorphism rs2397965 -
CES5A Q6NT32 VAR_036837 p.Glu261Lys Polymorphism rs11076126 -
CES5A Q6NT32 VAR_036838 p.His344Gln Polymorphism rs11860946 -
CES5A Q6NT32 VAR_036839 p.Gly499Arg Polymorphism rs16955812 -
CES5A Q6NT32 VAR_036840 p.Asp537Glu Polymorphism rs11860456 -
CETN3 O15182 VAR_030846 p.Val10Leu Polymorphism rs4873 -
CETP P11597 VAR_004172 p.Asp459Gly Disease rs2303790 Hyperalphalipoproteinemia type 1 (HALP1) [MIM:143470]
CETP P11597 VAR_013919 p.Gly331Ser Polymorphism rs5881 -
CETP P11597 VAR_013920 p.Ala390Pro Polymorphism rs5880 -
CETP P11597 VAR_013921 p.Val422Ile Polymorphism rs5882 -
CETP P11597 VAR_013922 p.Arg468Gln Polymorphism rs1800777 -
CETP P11597 VAR_013923 p.Val486Met Polymorphism rs5887 -
CETP P11597 VAR_017018 p.Ala15Gly Polymorphism rs34065661 -
CETP P11597 VAR_017019 p.Val385Met Polymorphism rs34855278 -
CETP P11597 VAR_031127 p.Val455Met Polymorphism rs2228667 -
CETP P11597 VAR_033098 p.Arg154Trp Polymorphism rs34716057 -
CETP P11597 VAR_033099 p.Leu168Pro Disease - Hyperalphalipoproteinemia type 1 (HALP1) [MIM:143470]
CETP P11597 VAR_033100 p.Arg299Cys Disease - Hyperalphalipoproteinemia type 1 (HALP1) [MIM:143470]
CFB P00751 VAR_006492 p.Trp28Arg Polymorphism - -
CFB P00751 VAR_006493 p.Trp28Gln Polymorphism - -
CFB P00751 VAR_006494 p.Arg32Gln Polymorphism rs641153 -
CFB P00751 VAR_006495 p.Ala736Ser Polymorphism - -
CFB P00751 VAR_016274 p.Leu9His Polymorphism rs4151667 -
CFB P00751 VAR_016275 p.Arg32Trp Polymorphism rs12614 -
CFB P00751 VAR_016276 p.Gly252Ser Polymorphism rs4151651 -
CFB P00751 VAR_016277 p.Lys565Glu Polymorphism rs4151659 -
CFB P00751 VAR_016278 p.Asp651Glu Polymorphism rs4151660 -
CFB P00751 VAR_063221 p.Phe286Leu Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]
CFB P00751 VAR_063222 p.Lys323Glu Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]
CFB P00751 VAR_063659 p.Ser166Pro Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]
CFB P00751 VAR_063660 p.Arg203Gln Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]
CFB P00751 VAR_063661 p.Ile242Leu Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]
CFB P00751 VAR_063662 p.Lys323Gln Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]
CFB P00751 VAR_063663 p.Met458Ile Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]
CFB P00751 VAR_063664 p.Lys533Arg Disease - Hemolytic uremic syndrome atypical type 4 (AHUS4) [MIM:612924]
CFC1 P0CG37 VAR_024322 p.Arg78Trp Polymorphism rs2579433 -
CFC1 P0CG37 VAR_024323 p.Arg112Cys Disease - Visceral heterotaxy autosomal type 2 (HTX2) [MIM:605376]
CFC1 P0CG37 VAR_024324 p.Arg189Cys Polymorphism - -
CFD P00746 VAR_034866 p.Val213Gly Disease - Complement factor D deficiency (CFDD) [MIM:613912]
CFD P00746 VAR_034867 p.Cys214Arg Disease - Complement factor D deficiency (CFDD) [MIM:613912]
CFD P00746 VAR_034868 p.Ile248Met Polymorphism rs2230216 -
CFDP1 Q9UEE9 VAR_048408 p.Ala60Thr Polymorphism rs16963331 -
CFH P08603 VAR_001979 p.Tyr402His Polymorphism rs1061170 -
CFH P08603 VAR_019405 p.Cys536Arg Disease - Complement factor H deficiency (CFH deficiency) [MIM:609814]
CFH P08603 VAR_019406 p.Cys959Tyr Disease - Complement factor H deficiency (CFH deficiency) [MIM:609814]
CFH P08603 VAR_019407 p.Leu1189Arg Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_019408 p.Ser1191Leu Disease rs460897 Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_020261 p.Glu936Asp Polymorphism rs1065489 -
CFH P08603 VAR_023836 p.Val62Ile Polymorphism rs800292 -
CFH P08603 VAR_025092 p.Ile551Thr Polymorphism rs35453854 -
CFH P08603 VAR_025093 p.Ser890Ile Polymorphism rs515299 -
CFH P08603 VAR_025094 p.Val1007Ile Polymorphism - -
CFH P08603 VAR_025095 p.Thr1017Ile Polymorphism rs34362004 -
CFH P08603 VAR_025096 p.Asn1050Tyr Polymorphism rs35274867 -
CFH P08603 VAR_025097 p.Ile1059Thr Polymorphism rs35343172 -
CFH P08603 VAR_025864 p.Arg78Gly Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025865 p.Cys630Trp Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025866 p.Glu850Lys Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025867 p.Gln950His Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025868 p.Tyr951His Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025869 p.Thr956Met Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025870 p.Trp978Cys Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025871 p.Tyr1021Phe Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025872 p.Cys1043Arg Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025873 p.Gln1076Glu Disease - Complement factor H deficiency (CFH deficiency) [MIM:609814]
CFH P08603 VAR_025874 p.Asp1119Gly Disease - Complement factor H deficiency (CFH deficiency) [MIM:609814]
CFH P08603 VAR_025875 p.Val1134Gly Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025876 p.Tyr1142Asp Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025877 p.Trp1157Arg Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025878 p.Cys1163Trp Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025879 p.Trp1183Leu Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025880 p.Trp1183Arg Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025881 p.Thr1184Arg Disease - Complement factor H deficiency (CFH deficiency) [MIM:609814]
CFH P08603 VAR_025882 p.Gly1194Asp Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025883 p.Val1197Ala Disease rs460184 Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025884 p.Glu1198Ala Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025885 p.Arg1210Cys Disease - Complement factor H deficiency (CFH deficiency) [MIM:609814]
CFH P08603 VAR_025886 p.Arg1215Gly Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_025887 p.Arg1215Gln Disease - Complement factor H deficiency (CFH deficiency) [MIM:609814]
CFH P08603 VAR_025888 p.Pro1226Ser Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_031978 p.Arg127Leu Disease - Complement factor H deficiency (CFH deficiency) [MIM:609814]
CFH P08603 VAR_031980 p.Gln400Lys Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_031981 p.Cys431Ser Disease - Complement factor H deficiency (CFH deficiency) [MIM:609814]
CFH P08603 VAR_031982 p.Cys673Ser Disease - Complement factor H deficiency (CFH deficiency) [MIM:609814]
CFH P08603 VAR_031983 p.Cys673Tyr Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_031984 p.His893Arg Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_031985 p.Cys915Ser Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_031986 p.Phe1199Ser Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_043892 p.Thr493Arg Polymorphism rs1061171 -
CFH P08603 VAR_043893 p.Arg567Gly Unclassified - -
CFH P08603 VAR_043894 p.Val1007Leu Polymorphism rs534399 -
CFH P08603 VAR_043895 p.Arg1078Ser Unclassified - -
CFH P08603 VAR_043896 p.Gln1143Glu Polymorphism rs34247141 -
CFH P08603 VAR_055683 p.Asn997Thr Polymorphism rs17575212 -
CFH P08603 VAR_055684 p.Ala1010Thr Polymorphism rs11539862 -
CFH P08603 VAR_063648 p.Cys325Tyr Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_063649 p.Val609Ile Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_063650 p.Ile1169Leu Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFH P08603 VAR_063651 p.Trp1183Cys Disease - Hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:235400]
CFHR1 Q03591 VAR_001980 p.His157Tyr Polymorphism rs425757 -
CFHR1 Q03591 VAR_001981 p.Leu159Val Polymorphism - -
CFHR1 Q03591 VAR_001982 p.Glu175Gln Polymorphism rs388862 -
CFHR1 Q03591 VAR_048816 p.Ala296Val Polymorphism rs16840561 -
CFHR3 Q02985 VAR_048817 p.His71Tyr Polymorphism rs17575274 -
CFHR4 Q92496 VAR_047151 p.Gly306Glu Polymorphism rs10494745 -
CFHR5 Q9BXR6 VAR_035827 p.Asn216Ser Unclassified - A breast cancer sample
CFHR5 Q9BXR6 VAR_048818 p.Pro46Ser Polymorphism rs12097550 -
CFHR5 Q9BXR6 VAR_048819 p.Arg356His Polymorphism rs35662416 -
CFHR5 Q9BXR6 VAR_048820 p.Leu521Ile Polymorphism rs35957013 -
CFHR5 Q9BXR6 VAR_048821 p.Leu529Arg Polymorphism rs16840956 -
CFHR5 Q9BXR6 VAR_063652 p.Tyr277Asn Unclassified - -
CFHR5 Q9BXR6 VAR_063653 p.Val379Leu Unclassified - -
CFI P05156 VAR_026757 p.His418Leu Disease - Complement factor I deficiency (CFI deficiency) [MIM:610984]
CFI P05156 VAR_030343 p.Ile340Thr Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
CFI P05156 VAR_030344 p.Asp524Val Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
CFI P05156 VAR_034907 p.Gly243Asp Disease - Complement factor I deficiency (CFI deficiency) [MIM:610984]
CFI P05156 VAR_034908 p.Thr300Ala Polymorphism rs11098044 -
CFI P05156 VAR_063665 p.Pro64Leu Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
CFI P05156 VAR_063666 p.Gly119Arg Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
CFI P05156 VAR_063667 p.His183Arg Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
CFI P05156 VAR_063668 p.Gly287Arg Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
CFI P05156 VAR_063669 p.Arg317Trp Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
CFI P05156 VAR_063670 p.Ile416Leu Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
CFI P05156 VAR_063671 p.Asp519Asn Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
CFI P05156 VAR_063672 p.Lys522Thr Disease - Hemolytic uremic syndrome atypical type 3 (AHUS3) [MIM:612923]
CFL2 Q9Y281 VAR_031989 p.Ala35Thr Disease - Nemaline myopathy type 7 (NEM7) [MIM:610687]
CFL2 Q9Y281 VAR_036458 p.Ile47Met Unclassified - A breast cancer sample
CFLAR O15519 VAR_048619 p.Leu203Ile Polymorphism rs13424615 -
CFP P27918 VAR_002002 p.Arg100Trp Disease - Properdin deficiency (PFD) [MIM:312060]
CFP P27918 VAR_002003 p.Gln343Arg Disease - Properdin deficiency (PFD) [MIM:312060]
CFP P27918 VAR_002004 p.Tyr414Asp Disease - Properdin deficiency (PFD) [MIM:312060]
CFP P27918 VAR_013139 p.Gly298Val Disease rs28935480 Properdin deficiency (PFD) [MIM:312060]
CFP P27918 VAR_020395 p.Val53Met Polymorphism rs8177068 -
CFP P27918 VAR_020396 p.Pro204Leu Polymorphism rs8177076 -
CFP P27918 VAR_020397 p.Gly250Ser Polymorphism rs8177077 -
CFP P27918 VAR_035813 p.Thr3Ile Unclassified - A breast cancer sample
CFTR P13569 VAR_000101 p.Ser13Phe Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000102 p.Arg31Cys Polymorphism rs1800073 -
CFTR P13569 VAR_000103 p.Arg31Leu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000104 p.Ser42Phe Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000105 p.Asp44Gly Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000106 p.Asp44Val Polymorphism rs1800074 -
CFTR P13569 VAR_000107 p.Ser50Tyr Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000108 p.Trp57Gly Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000109 p.Pro67Leu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000110 p.Arg74Trp Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000111 p.Arg75Gln Polymorphism rs1800076 -
CFTR P13569 VAR_000112 p.Gly85Glu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000113 p.Phe87Leu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000114 p.Gly91Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000115 p.Glu92Lys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000116 p.Gln98Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000117 p.Ile105Ser Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000118 p.Tyr109Cys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000119 p.Asp110His Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000120 p.Pro111Leu Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000121 p.Arg117Cys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000122 p.Arg117His Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000122 p.Arg117His Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000123 p.Arg117Leu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000124 p.Arg117Pro Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000125 p.Ala120Thr Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000126 p.His139Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000127 p.Ala141Asp Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000128 p.Ile148Thr Disease rs35516286 Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000129 p.Gly149Arg Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000130 p.Gly178Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000132 p.Glu193Lys Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000132 p.Glu193Lys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000133 p.His199Gln Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000134 p.His199Tyr Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000135 p.Pro205Ser Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000136 p.Leu206Trp Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000137 p.Cys225Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000138 p.Met244Lys Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000139 p.Arg258Gly Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000140 p.Asn287Tyr Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000141 p.Arg297Gln Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000142 p.Tyr301Cys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000143 p.Ser307Asn Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000144 p.Phe311Leu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000146 p.Gly314Glu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000147 p.Gly314Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000148 p.Arg334Trp Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000150 p.Ile336Lys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000151 p.Thr338Ile Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000152 p.Leu346Pro Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000153 p.Arg347His Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000154 p.Arg347Leu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000155 p.Arg347Pro Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000156 p.Arg352Gln Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000157 p.Gln359Lys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000160 p.Ala455Glu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000161 p.Val456Phe Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000162 p.Gly458Val Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000163 p.Leu467Phe Polymorphism rs1800089 -
CFTR P13569 VAR_000164 p.Val470Met Polymorphism rs213950 -
CFTR P13569 VAR_000165 p.Gly480Cys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000166 p.Ser492Phe Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000167 p.Glu504Gln Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000168 p.Ile506Val Polymorphism - -
CFTR P13569 VAR_000169 p.Ile507Val Polymorphism rs1800091 -
CFTR P13569 VAR_000172 p.Phe508Cys Polymorphism rs1800093 -
CFTR P13569 VAR_000173 p.Asp513Gly Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000174 p.Val520Phe Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000175 p.Gly544Val Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000176 p.Ser549Asn Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000177 p.Ser549Ile Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000178 p.Ser549Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000179 p.Gly551Asp Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000180 p.Gly551Ser Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000181 p.Arg553Gln Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000182 p.Leu558Ser Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000183 p.Ala559Thr Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000184 p.Arg560Lys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000185 p.Arg560Ser Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000186 p.Arg560Thr Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000187 p.Val562Ile Polymorphism rs1800097 -
CFTR P13569 VAR_000188 p.Val562Leu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000189 p.Tyr563Asn Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000190 p.Tyr569Cys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000191 p.Tyr569Asp Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000192 p.Tyr569His Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000193 p.Leu571Ser Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000194 p.Asp572Asn Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000195 p.Pro574His Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000196 p.Gly576Ala Polymorphism rs1800098 -
CFTR P13569 VAR_000197 p.Asp579Gly Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000198 p.Ile601Phe Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000199 p.Leu610Ser Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000200 p.Ala613Thr Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000201 p.Asp614Gly Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000202 p.Ile618Thr Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000203 p.Leu619Ser Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000204 p.His620Pro Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000205 p.His620Gln Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000206 p.Gly622Asp Unclassified - -
CFTR P13569 VAR_000207 p.Gly628Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000208 p.Leu633Pro Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000209 p.Asp648Val Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000210 p.Asp651Asn Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000211 p.Thr665Ser Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000212 p.Arg668Cys Polymorphism rs1800100 -
CFTR P13569 VAR_000213 p.Phe693Leu Polymorphism rs1800101 -
CFTR P13569 VAR_000214 p.Val754Met Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000215 p.Arg766Met Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000216 p.Arg792Gly Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000217 p.Ala800Gly Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000218 p.Ile807Met Disease rs1800103 Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000219 p.Glu822Lys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000220 p.Glu826Lys Unclassified - -
CFTR P13569 VAR_000221 p.Cys866Tyr Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000222 p.Ser912Leu Polymorphism - -
CFTR P13569 VAR_000223 p.Tyr913Cys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000224 p.Tyr917Cys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000225 p.His949Tyr Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000226 p.Met952Ile Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000227 p.Leu997Phe Disease rs1800111 Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000228 p.Ile1005Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000229 p.Ala1006Glu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000230 p.Pro1013Leu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000231 p.Met1028Ile Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000232 p.Phe1052Val Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000233 p.Gly1061Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000234 p.Leu1065Pro Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000235 p.Leu1065Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000236 p.Arg1066Cys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000237 p.Arg1066His Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000238 p.Arg1066Leu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000239 p.Ala1067Thr Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000240 p.Ala1067Val Polymorphism rs1800114 -
CFTR P13569 VAR_000241 p.Arg1070Gln Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000242 p.Arg1070Pro Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000243 p.Gln1071Pro Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000244 p.Pro1072Leu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000245 p.Leu1077Pro Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000246 p.His1085Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000247 p.Trp1098Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000248 p.Met1101Lys Disease rs36210737 Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000249 p.Met1137Val Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000251 p.Asp1152His Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000252 p.Arg1162Leu Polymorphism rs1800120 -
CFTR P13569 VAR_000253 p.Thr1220Ile Polymorphism rs1800123 -
CFTR P13569 VAR_000254 p.Ile1234Val Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000255 p.Ser1235Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000256 p.Gly1244Glu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000257 p.Gly1249Glu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000258 p.Ser1251Asn Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000259 p.Ser1255Pro Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000260 p.Asp1270Asn Disease rs11971167 Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000261 p.Trp1282Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000262 p.Arg1283Met Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000263 p.Phe1286Ser Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000264 p.Gln1291His Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000265 p.Gln1291Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000266 p.Asn1303His Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000267 p.Asn1303Lys Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000268 p.Gly1349Asp Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_000269 p.Ala1364Val Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_000270 p.Val1397Glu Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_009895 p.Leu138Pro Polymorphism rs1800078 -
CFTR P13569 VAR_009896 p.Arg170His Polymorphism rs1800079 -
CFTR P13569 VAR_009897 p.Ser182Gly Polymorphism rs1800080 -
CFTR P13569 VAR_009898 p.Val322Met Polymorphism rs1800085 -
CFTR P13569 VAR_009899 p.Thr351Ser Polymorphism rs1800086 -
CFTR P13569 VAR_009900 p.Gln353His Polymorphism rs1800087 -
CFTR P13569 VAR_009901 p.Ile506Met Polymorphism rs1800092 -
CFTR P13569 VAR_009902 p.Ser654Gly Polymorphism rs1800099 -
CFTR P13569 VAR_009903 p.Tyr903His Polymorphism rs1800106 -
CFTR P13569 VAR_009904 p.Ser909Ile Polymorphism rs1800107 -
CFTR P13569 VAR_009905 p.Leu967Ser Polymorphism rs1800110 -
CFTR P13569 VAR_011564 p.Arg1070Trp Disease - Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
CFTR P13569 VAR_011565 p.Met1101Arg Disease - Cystic fibrosis (CF) [MIM:219700]
CFTR P13569 VAR_048150 p.Lys532Glu Polymorphism rs35032490 -
CFTR P13569 VAR_048151 p.Ser605Phe Polymorphism rs766874 -
CFTR P13569 VAR_048152 p.Arg1453Trp Polymorphism rs4148725 -
CGB P01233 VAR_003188 p.Asp137Ala Polymorphism rs7452 -
CGB P01233 VAR_014585 p.Phe4Leu Polymorphism rs6516 -
CGB P01233 VAR_014586 p.Lys22Arg Polymorphism rs6518 -
CGB P01233 VAR_014587 p.Thr35Ile Polymorphism rs6515 -
CGB P01233 VAR_014588 p.Asn97Asp Polymorphism rs6519 -
CGB P01233 VAR_015231 p.Thr18Ala Polymorphism - -
CGB P01233 VAR_015232 p.Pro24Met Unclassified - -
CGB P01233 VAR_015233 p.Arg28Trp Polymorphism - -
CGB P01233 VAR_015234 p.Arg30His Polymorphism - -
CGB P01233 VAR_015235 p.Ser147Cys Polymorphism - -
CGB1 A6NKQ9 VAR_055838 p.Pro185Ser Polymorphism rs35371968 -
CGN Q9P2M7 VAR_057809 p.Arg479Gln Polymorphism rs12038198 -
CGNL1 Q0VF96 VAR_037606 p.Thr380Pro Polymorphism rs1280395 -
CGNL1 Q0VF96 VAR_037607 p.Ser459Phe Polymorphism rs7182648 -
CGNL1 Q0VF96 VAR_037608 p.Thr511Ala Polymorphism rs1280396 -
CGNL1 Q0VF96 VAR_037609 p.Leu1101Val Polymorphism rs1620402 -
CGNL1 Q0VF96 VAR_037610 p.Met1270Val Polymorphism rs16977594 -
CGREF1 Q99674 VAR_047648 p.Ala212Val Polymorphism rs11893478 -
CGREF1 Q99674 VAR_047649 p.Lys232Asn Polymorphism rs11889831 -
CGREF1 Q99674 VAR_047650 p.Gly243Glu Polymorphism rs1057389 -
CGREF1 Q99674 VAR_061088 p.Ile116Met Polymorphism rs2384572 -
CGRRF1 Q99675 VAR_052081 p.Cys117Tyr Polymorphism rs11555279 -
CH25H O95992 VAR_048899 p.Leu133Pro Polymorphism rs17117295 -
CHAC2 Q8WUX2 VAR_038123 p.Arg82Gly Polymorphism rs17851583 -
CHAD O15335 VAR_030631 p.Thr350Ile Polymorphism rs2231510 -
CHAD O15335 VAR_052019 p.Arg312Gln Polymorphism rs35218093 -
CHADL Q6NUI6 VAR_059805 p.Gln710Arg Polymorphism rs9619955 -
CHADL Q6NUI6 VAR_061805 p.Asp721Asn Polymorphism rs9619954 -
CHAF1A Q13111 VAR_055329 p.Asp167Val Polymorphism rs35651457 -
CHAF1A Q13111 VAR_055330 p.Met239Val Polymorphism rs2230635 -
CHAF1A Q13111 VAR_055331 p.Lys850Arg Polymorphism rs8100525 -
CHAF1A Q13111 VAR_055332 p.Ala923Val Polymorphism rs9352 -
CHAF1A Q13111 VAR_055333 p.Ser950Ala Polymorphism rs243383 -
CHAF1B Q13112 VAR_053387 p.Lys506Gln Polymorphism rs2230638 -
CHAMP1 Q96JM3 VAR_027270 p.Leu568Val Polymorphism rs3764522 -
CHAMP1 Q96JM3 VAR_027271 p.Pro604Arg Polymorphism rs12428067 -
CHAMP1 Q96JM3 VAR_052910 p.Lys591Arg Polymorphism rs35564629 -
CHAT P28329 VAR_011666 p.Leu210Pro Disease rs28930071 Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
CHAT P28329 VAR_011667 p.Pro211Ala Disease - Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
CHAT P28329 VAR_011668 p.Ile305Thr Disease rs28929482 Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
CHAT P28329 VAR_011669 p.Arg420Cys Disease - Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
CHAT P28329 VAR_011670 p.Glu441Lys Disease rs28930070 Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
CHAT P28329 VAR_011671 p.Arg482Gly Disease rs28929481 Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
CHAT P28329 VAR_011672 p.Ser498Leu Disease - Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
CHAT P28329 VAR_011673 p.Val506Leu Disease - Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
CHAT P28329 VAR_011674 p.Arg560His Disease - Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
CHAT P28329 VAR_011675 p.Ala120Thr Polymorphism rs3810950 -
CHAT P28329 VAR_011676 p.Ala392Gly Polymorphism - -
CHAT P28329 VAR_038605 p.Ile336Thr Disease - Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
CHAT P28329 VAR_046683 p.Asp47Glu Polymorphism rs3810948 -
CHAT P28329 VAR_046684 p.Arg222Pro Polymorphism rs8178989 -
CHAT P28329 VAR_046685 p.Leu243Phe Polymorphism rs8178990 -
CHAT P28329 VAR_046686 p.Pro299Leu Polymorphism rs868749 -
CHAT P28329 VAR_046687 p.Asp400Asn Polymorphism rs8178991 -
CHAT P28329 VAR_046688 p.Val461Met Polymorphism rs4838544 -
CHCHD2 Q9Y6H1 VAR_048699 p.His78Asn Polymorphism rs11546418 -
CHCHD6 Q9BRQ6 VAR_024412 p.Ala95Ser Polymorphism rs2272487 -
CHD1 O14646 VAR_055652 p.Pro264Thr Polymorphism rs10062803 -
CHD1L Q86WJ1 VAR_042954 p.Arg25Pro Polymorphism rs11588753 -
CHD1L Q86WJ1 VAR_042955 p.His350Gln Polymorphism rs17356233 -
CHD1L Q86WJ1 VAR_042956 p.Glu649Ala Polymorphism rs13374920 -
CHD1L Q86WJ1 VAR_042957 p.Ser743Cys Polymorphism rs2275249 -
CHD1L Q86WJ1 VAR_042958 p.Ala885Ser Polymorphism rs4950394 -
CHD2 O14647 VAR_061099 p.Gly1574Ala Polymorphism rs56227200 -
CHD3 Q12873 VAR_048728 p.Ala3Val Polymorphism rs931543 -
CHD4 Q14839 VAR_031674 p.Glu139Asp Polymorphism rs1639122 -
CHD4 Q14839 VAR_031675 p.Ser1648Leu Polymorphism rs35512811 -
CHD4 Q14839 VAR_031676 p.Ile1655Val Polymorphism rs16932768 -
CHD5 Q8TDI0 VAR_035475 p.Val45Met Unclassified - A breast cancer sample
CHD5 Q8TDI0 VAR_035476 p.Asp119Asn Unclassified - A breast cancer sample
CHD5 Q8TDI0 VAR_035477 p.Arg667Gly Unclassified - A breast cancer sample
CHD5 Q8TDI0 VAR_048729 p.Ser1253Ile Polymorphism rs6657997 -
CHD5 Q8TDI0 VAR_048730 p.Ser1539Pro Polymorphism rs2843493 -
CHD6 Q8TD26 VAR_023363 p.His2161Gln Polymorphism rs3817893 -
CHD6 Q8TD26 VAR_059213 p.Gln780His Polymorphism rs4474937 -
CHD7 Q9P2D1 VAR_021059 p.Ile1028Val Disease - CHARGE syndrome (CHARGES) [MIM:214800]
CHD7 Q9P2D1 VAR_021060 p.Leu1257Arg Disease - CHARGE syndrome (CHARGES) [MIM:214800]
CHD7 Q9P2D1 VAR_033245 p.Trp1031Gly Disease - CHARGE syndrome (CHARGES) [MIM:214800]
CHD7 Q9P2D1 VAR_033246 p.Gln1214Arg Disease - CHARGE syndrome (CHARGES) [MIM:214800]
CHD7 Q9P2D1 VAR_033247 p.Leu1294Pro Disease - CHARGE syndrome (CHARGES) [MIM:214800]
CHD7 Q9P2D1 VAR_033248 p.Leu1815Pro Disease - CHARGE syndrome (CHARGES) [MIM:214800]
CHD7 Q9P2D1 VAR_033249 p.His2096Arg Disease - CHARGE syndrome (CHARGES) [MIM:214800]
CHD7 Q9P2D1 VAR_033250 p.Arg2319Ser Disease - CHARGE syndrome (CHARGES) [MIM:214800]
CHD7 Q9P2D1 VAR_033251 p.Phe2750Leu Polymorphism rs3750308 -
CHD7 Q9P2D1 VAR_048731 p.Met340Val Polymorphism rs41305525 -
CHD7 Q9P2D1 VAR_054623 p.His55Arg Disease - Kallmann syndrome type 5 (KAL5) [MIM:612370]
CHD7 Q9P2D1 VAR_054624 p.Ser834Phe Disease - Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
CHD7 Q9P2D1 VAR_054625 p.Ala2789Thr Disease - Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
CHD7 Q9P2D1 VAR_054626 p.Pro2880Leu Disease - Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
CHD7 Q9P2D1 VAR_054627 p.Lys2948Glu Disease - Kallmann syndrome type 5 (KAL5) [MIM:612370]
CHD9 Q3L8U1 VAR_047355 p.Asp2312Glu Polymorphism rs6499548 -
CHDH Q8NE62 VAR_020421 p.Glu40Ala Polymorphism rs9001 -
CHDH Q8NE62 VAR_049357 p.Asn441Ser Polymorphism rs34974961 -
CHDH Q8NE62 VAR_055097 p.Leu78Arg Polymorphism rs12676 -
CHEK1 O14757 VAR_021123 p.Arg156Gln Polymorphism rs3731410 -
CHEK1 O14757 VAR_024571 p.Ile471Val Polymorphism rs506504 -
CHEK1 O14757 VAR_040407 p.Glu223Val Polymorphism rs35817404 -
CHEK1 O14757 VAR_040408 p.Val312Met Polymorphism rs34097480 -
CHEK2 O96017 VAR_008554 p.Arg145Trp Disease - Li-Fraumeni syndrome 2 (LFS2) [MIM:609265]
CHEK2 O96017 VAR_008554 p.Arg145Trp Unclassified - Colon cancer
CHEK2 O96017 VAR_008555 p.Ile157Thr Polymorphism rs17879961 -
CHEK2 O96017 VAR_019101 p.Ala17Ser Unclassified - An osteogenic sarcoma sample
CHEK2 O96017 VAR_019102 p.Pro85Leu Unclassified rs17883862 An osteogenic sarcoma sample
CHEK2 O96017 VAR_019103 p.Arg180Cys Disease rs77130927 Prostate cancer (PC) [MIM:176807]
CHEK2 O96017 VAR_019104 p.Arg181Cys Disease rs137853010 Prostate cancer (PC) [MIM:176807]
CHEK2 O96017 VAR_019105 p.Arg181His Disease rs121908701 Prostate cancer (PC) [MIM:176807]
CHEK2 O96017 VAR_019106 p.Glu239Lys Disease - Prostate cancer (PC) [MIM:176807]
CHEK2 O96017 VAR_019107 p.Glu64Lys Disease - Prostate cancer (PC) [MIM:176807]
CHEK2 O96017 VAR_019108 p.Arg145Pro Disease - Prostate cancer (PC) [MIM:176807]
CHEK2 O96017 VAR_019109 p.Gly167Arg Disease - Prostate cancer (PC) [MIM:176807]
CHEK2 O96017 VAR_019110 p.Arg180His Disease rs137853009 Prostate cancer (PC) [MIM:176807]
CHEK2 O96017 VAR_019111 p.Ile251Phe Disease - Prostate cancer (PC) [MIM:176807]
CHEK2 O96017 VAR_019112 p.Arg318His Disease rs143611747 Prostate cancer (PC) [MIM:176807]
CHEK2 O96017 VAR_019113 p.Thr323Pro Disease - Prostate cancer (PC) [MIM:176807]
CHEK2 O96017 VAR_019114 p.Tyr327Cys Disease - Prostate cancer (PC) [MIM:176807]
CHEK2 O96017 VAR_019115 p.Thr476Lys Disease - Prostate cancer (PC) [MIM:176807]
CHEK2 O96017 VAR_021117 p.Leu436Met Polymorphism rs17882922 -
CHEK2 O96017 VAR_021118 p.Asn446Lys Polymorphism rs17880867 -
CHEK2 O96017 VAR_021119 p.Phe447Ile Polymorphism rs17881473 -
CHEK2 O96017 VAR_021120 p.Ile448Ser Polymorphism rs17886163 -
CHEK2 O96017 VAR_021121 p.Glu501Lys Polymorphism rs17883172 -
CHEK2 O96017 VAR_021122 p.Leu512Val Polymorphism rs17882942 -
CHEK2 O96017 VAR_022461 p.Arg117Gly Polymorphism rs28909982 -
CHEK2 O96017 VAR_022462 p.Arg137Gln Unclassified - -
CHEK2 O96017 VAR_022463 p.Ser428Phe Polymorphism rs137853011 -
CHEK2 O96017 VAR_024572 p.Arg406His Polymorphism rs299671 -
CHEK2 O96017 VAR_026630 p.Thr59Lys Unclassified - Multiple cancers
CHEK2 O96017 VAR_029154 p.Asp347Asn Polymorphism rs28909980 -
CHEK2 O96017 VAR_029155 p.Ser500Cys Polymorphism rs28909981 -
CHEK2 O96017 VAR_066012 p.His371Tyr Unclassified - -
CHERP Q8IWX8 VAR_034833 p.Asn199His Polymorphism rs1043448 -
CHFR Q96EP1 VAR_017582 p.Pro166Leu Unclassified - A patient with non small cell lung carcinomas
CHFR Q96EP1 VAR_017583 p.Arg202Pro Unclassified - A patient with non small cell lung carcinomas
CHFR Q96EP1 VAR_017584 p.Gly270Arg Polymorphism - -
CHFR Q96EP1 VAR_017585 p.Ala497Val Polymorphism rs2306541 -
CHFR Q96EP1 VAR_017586 p.Phe536Ser Unclassified - A patient with non small cell lung carcinomas
CHFR Q96EP1 VAR_017587 p.Val580Met Polymorphism rs2306536 -
CHGA P10645 VAR_025636 p.Glu176Lys Polymorphism rs9658654 -
CHGA P10645 VAR_025637 p.Glu264Asp Polymorphism rs9658655 -
CHGA P10645 VAR_025638 p.Arg271Trp Polymorphism rs9658662 -
CHGA P10645 VAR_025639 p.Ala274Gly Polymorphism rs9658663 -
CHGA P10645 VAR_025640 p.Gly315Ser Polymorphism rs9658664 -
CHGA P10645 VAR_025641 p.Leu332Pro Polymorphism rs9658665 -
CHGA P10645 VAR_025642 p.Asp369Asn Polymorphism rs2228575 -
CHGA P10645 VAR_025643 p.Gly382Ser Polymorphism rs9658667 -
CHGA P10645 VAR_025644 p.Pro388Leu Polymorphism rs9658668 -
CHGA P10645 VAR_025645 p.Arg399Trp Polymorphism rs729940 -
CHGA P10645 VAR_047417 p.Arg61Gln Polymorphism rs3742712 -
CHGB P05060 VAR_020287 p.Arg178Gln Polymorphism rs910122 -
CHGB P05060 VAR_022012 p.Arg417His Polymorphism rs742711 -
CHGB P05060 VAR_024414 p.Lys117Asn Polymorphism rs236150 -
CHGB P05060 VAR_024415 p.Thr243Ala Polymorphism rs236151 -
CHGB P05060 VAR_024416 p.Ala353Gly Polymorphism rs236152 -
CHGB P05060 VAR_028235 p.Asp145Asn Polymorphism rs6133278 -
CHGB P05060 VAR_028236 p.Asn200His Polymorphism rs881118 -
CHGB P05060 VAR_028237 p.Arg232Gln Polymorphism rs6139873 -
CHGB P05060 VAR_028238 p.Pro413Leu Polymorphism rs742710 -
CHGB P05060 VAR_043578 p.Ser93Thr Polymorphism rs6085324 -
CHI3L1 P36222 VAR_019838 p.Arg145Gly Polymorphism rs880633 -
CHI3L1 P36222 VAR_019839 p.Ile311Thr Polymorphism rs1049407 -
CHI3L2 Q15782 VAR_033731 p.Val184Ile Polymorphism rs34049547 -
CHI3L2 Q15782 VAR_049198 p.Ala182Val Polymorphism rs11556868 -
CHI3L2 Q15782 VAR_061189 p.Arg318Trp Polymorphism rs13721 -
CHIA Q9BZP6 VAR_033730 p.Val324Gly Polymorphism rs2256721 -
CHIA Q9BZP6 VAR_049192 p.Gly102Arg Polymorphism rs3818822 -
CHIA Q9BZP6 VAR_049193 p.Ile339Val Polymorphism rs2275253 -
CHIA Q9BZP6 VAR_049194 p.Phe354Ser Polymorphism rs2275254 -
CHIA Q9BZP6 VAR_049195 p.Phe377Leu Polymorphism rs36011905 -
CHIA Q9BZP6 VAR_049196 p.Val432Gly Polymorphism rs2256721 -
CHIA Q9BZP6 VAR_063030 p.Asn45Asp Polymorphism rs41282492 -
CHIA Q9BZP6 VAR_063031 p.Asp47Asn Polymorphism rs41282494 -
CHIA Q9BZP6 VAR_063032 p.Arg61Met Polymorphism rs41282496 -
CHIA Q9BZP6 VAR_063033 p.Lys125Arg Polymorphism - -
CHID1 Q9BWS9 VAR_031173 p.Arg331Gln Polymorphism rs1127800 -
CHID1 Q9BWS9 VAR_031174 p.Ala338Val Polymorphism rs6682 -
CHIT1 Q13231 VAR_022138 p.Gly102Ser Polymorphism rs2297950 -
CHIT1 Q13231 VAR_024458 p.Ala442Gly Polymorphism rs1065761 -
CHIT1 Q13231 VAR_049190 p.Arg40His Polymorphism rs35920428 -
CHIT1 Q13231 VAR_049191 p.Gln171His Polymorphism rs12562058 -
CHIT1 Q13231 VAR_065914 p.Glu74Lys Unclassified - -
CHKA P35790 VAR_054863 p.Ser220Gly Polymorphism rs17853641 -
CHKA P35790 VAR_054864 p.Leu422Gln Polymorphism rs17853642 -
CHL1 O00533 VAR_027167 p.Leu17Phe Polymorphism rs2272522 -
CHL1 O00533 VAR_027168 p.Thr287Ala Polymorphism rs13060847 -
CHL1 O00533 VAR_027169 p.Ile1034Val Polymorphism rs6442827 -
CHL1 O00533 VAR_035505 p.Leu411Ile Unclassified - A colorectal cancer sample
CHM P24386 VAR_008273 p.Gln471Leu Disease - Choroideremia (CHM) [MIM:303100]
CHM P24386 VAR_066847 p.His507Arg Disease - Choroideremia (CHM) [MIM:303100]
CHM P24386 VAR_066848 p.Leu550Pro Disease - Choroideremia (CHM) [MIM:303100]
CHMP2B Q9UQN3 VAR_023383 p.Asp148Tyr Disease - Frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:600795]
CHMP2B Q9UQN3 VAR_038373 p.Ile29Val Polymorphism - -
CHMP2B Q9UQN3 VAR_038374 p.Gln206His Unclassified - -
CHMP4A Q9BY43 VAR_023384 p.Gly153Arg Polymorphism rs2295322 -
CHMP4B Q9H444 VAR_037579 p.Asp129Val Disease - Cataract posterior polar type 3 (CTPP3) [MIM:605387]
CHMP4B Q9H444 VAR_037580 p.Glu161Lys Disease - Cataract posterior polar type 3 (CTPP3) [MIM:605387]
CHMP4C Q96CF2 VAR_052028 p.Ala232Thr Polymorphism rs35094336 -
CHMP5 Q9NZZ3 VAR_052029 p.Ser86Pro Polymorphism rs11540558 -
CHMP6 Q96FZ7 VAR_061807 p.Gly55Ser Polymorphism rs61037507 -
CHN1 P15882 VAR_047940 p.Leu20Phe Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356]
CHN1 P15882 VAR_047941 p.Ile126Met Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356]
CHN1 P15882 VAR_047942 p.Tyr143His Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356]
CHN1 P15882 VAR_047943 p.Ala223Val Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356]
CHN1 P15882 VAR_047944 p.Gly228Ser Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356]
CHN1 P15882 VAR_047945 p.Pro252Gln Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356]
CHN1 P15882 VAR_047946 p.Glu313Lys Disease - Duane retraction syndrome type 2 (DURS2) [MIM:604356]
CHN2 P52757 VAR_022118 p.His204Arg Polymorphism rs3750103 -
CHN2 P52757 VAR_049136 p.Pro438Ser Polymorphism rs34971642 -
CHORDC1 Q9UHD1 VAR_038676 p.Ala329Asp Polymorphism rs1045861 -
CHP2 O43745 VAR_048664 p.Arg127Pro Polymorphism rs35641939 -
CHPF Q8IZ52 VAR_047394 p.Gln371Arg Polymorphism rs6436155 -
CHPT1 Q8WUD6 VAR_032612 p.Phe162Ser Polymorphism rs3205421 -
CHPT1 Q8WUD6 VAR_032613 p.Tyr323Ser Unclassified - -
CHRAC1 Q9NRG0 VAR_013755 p.Cys55Tyr Polymorphism rs2231522 -
CHRAC1 Q9NRG0 VAR_013756 p.His126Arg Polymorphism rs2231524 -
CHRD Q9H2X0 VAR_021517 p.Met630Leu Polymorphism rs16858780 -
CHRD Q9H2X0 VAR_048727 p.Pro94Ser Polymorphism rs34095724 -
CHRDL2 Q6WN34 VAR_055651 p.Pro335Leu Polymorphism rs35903991 -
CHRM3 P20309 VAR_033461 p.Val65Ile Polymorphism rs2067481 -
CHRM3 P20309 VAR_049368 p.Leu431Pro Polymorphism rs16839102 -
CHRNA1 P02708 VAR_000282 p.Gly198Ser Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRNA1 P02708 VAR_000283 p.Val201Met Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRNA1 P02708 VAR_000284 p.Asn262Lys Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRNA1 P02708 VAR_000285 p.Thr299Ile Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRNA1 P02708 VAR_000286 p.Ser314Ile Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRNA1 P02708 VAR_021206 p.Phe278Val Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
CHRNA1 P02708 VAR_021207 p.Val294Phe Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRNA1 P02708 VAR_021208 p.Phe301Leu Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
CHRNA1 P02708 VAR_021209 p.Val330Ile Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
CHRNA1 P02708 VAR_038599 p.Val177Leu Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
CHRNA1 P02708 VAR_038600 p.Asp383Val Polymorphism rs6739001 -
CHRNA1 P02708 VAR_038601 p.Cys463Trp Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRNA1 P02708 VAR_043904 p.Arg254Leu Disease - Multiple pterygium syndrome lethal type (MUPSL) [MIM:253290]
CHRNA10 Q9GZZ6 VAR_048172 p.Glu355Ala Polymorphism rs2231547 -
CHRNA2 Q15822 VAR_027639 p.Thr22Ile Polymorphism rs2472553 -
CHRNA2 Q15822 VAR_027640 p.Thr125Ala Polymorphism rs891398 -
CHRNA2 Q15822 VAR_027641 p.Ile279Asn Disease - Nocturnal frontal lobe epilepsy type 4 (ENFL4) [MIM:610353]
CHRNA3 P32297 VAR_059110 p.Arg37His Polymorphism rs8192475 -
CHRNA4 P43681 VAR_000295 p.Ser280Phe Disease - Nocturnal frontal lobe epilepsy type 1 (ENFL1) [MIM:600513]
CHRNA4 P43681 VAR_017531 p.Ser280Leu Disease - Nocturnal frontal lobe epilepsy type 1 (ENFL1) [MIM:600513]
CHRNA4 P43681 VAR_023402 p.Glu387Gly Polymorphism rs45604738 -
CHRNA4 P43681 VAR_023403 p.Ser517Leu Polymorphism rs45622132 -
CHRNA5 P30532 VAR_046211 p.Val134Ile Polymorphism rs2229961 -
CHRNA5 P30532 VAR_046212 p.Asp398Asn Polymorphism rs16969968 -
CHRNA6 Q15825 VAR_048171 p.Asn447Ser Polymorphism rs16891583 -
CHRNA9 Q9UGM1 VAR_025425 p.Asn442Ser Polymorphism rs10009228 -
CHRNA9 Q9UGM1 VAR_031151 p.Arg96Gln Polymorphism rs10024518 -
CHRNA9 Q9UGM1 VAR_060996 p.Ala315Val Polymorphism rs55633891 -
CHRNB1 P11230 VAR_000287 p.Leu285Met Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRNB1 P11230 VAR_000288 p.Val289Met Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRNB1 P11230 VAR_048169 p.Glu32Gly Polymorphism rs17856697 -
CHRNB2 P17787 VAR_012714 p.Val287Leu Disease - Nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:605375]
CHRNB2 P17787 VAR_012715 p.Val287Met Disease - Nocturnal frontal lobe epilepsy type 3 (ENFL3) [MIM:605375]
CHRNB2 P17787 VAR_021564 p.Gln397His Polymorphism rs55685423 -
CHRNB3 Q05901 VAR_048173 p.Lys451Glu Polymorphism rs35327613 -
CHRNB4 P30926 VAR_013241 p.Arg136Trp Polymorphism - -
CHRNB4 P30926 VAR_013242 p.Ser140Gly Polymorphism rs56218866 -
CHRNB4 P30926 VAR_013243 p.Met467Val Polymorphism - -
CHRNB4 P30926 VAR_048174 p.Thr91Ile Polymorphism rs12914008 -
CHRND Q07001 VAR_019566 p.Ser289Phe Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRND Q07001 VAR_021210 p.Glu80Lys Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
CHRND Q07001 VAR_021211 p.Pro271Gln Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
CHRND Q07001 VAR_021212 p.Gln288Glu Disease rs41265127 Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRND Q07001 VAR_036031 p.Asp398Glu Unclassified - A breast cancer sample
CHRND Q07001 VAR_043905 p.Phe95Leu Disease - Multiple pterygium syndrome lethal type (MUPSL) [MIM:253290]
CHRNE Q04844 VAR_000289 p.Pro141Leu Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
CHRNE Q04844 VAR_000290 p.Arg167Leu Disease - Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
CHRNE Q04844 VAR_000291 p.Pro265Leu Disease - Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
CHRNE Q04844 VAR_000292 p.Thr284Pro Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRNE Q04844 VAR_000293 p.Leu289Phe Disease - Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRNE Q04844 VAR_000294 p.Arg331Trp Disease - Congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]
CHRNE Q04844 VAR_019567 p.Leu98Pro Disease rs28929768 Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRNE Q04844 VAR_019568 p.Leu241Phe Disease rs28999110 Congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]
CHRNE Q04844 VAR_021213 p.Gly13Arg Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
CHRNE Q04844 VAR_021214 p.Ser163Leu Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
CHRNE Q04844 VAR_021215 p.Ala431Pro Disease - Congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]
CHRNE Q04844 VAR_048170 p.Gly18Val Polymorphism rs4790235 -
CHRNG P07510 VAR_030753 p.Val107Gly Disease - Multiple pterygium syndrome Escobar variant (MUPSE) [MIM:265000]
CHRNG P07510 VAR_030753 p.Val107Gly Disease - Multiple pterygium syndrome lethal type (MUPSL) [MIM:253290]
CHRNG P07510 VAR_030754 p.Ala149Thr Polymorphism rs2289080 -
CHRNG P07510 VAR_030755 p.Arg239Cys Disease - Multiple pterygium syndrome Escobar variant (MUPSE) [MIM:265000]
CHRNG P07510 VAR_030755 p.Arg239Cys Disease - Multiple pterygium syndrome lethal type (MUPSL) [MIM:253290]
CHST10 O43529 VAR_021470 p.Asp258Asn Polymorphism rs3748932 -
CHST10 O43529 VAR_033737 p.Val20Leu Polymorphism rs35177621 -
CHST12 Q9NRB3 VAR_021471 p.Pro52His Polymorphism rs3735099 -
CHST12 Q9NRB3 VAR_021472 p.Thr61Ser Polymorphism rs3735100 -
CHST12 Q9NRB3 VAR_021473 p.Arg109Ser Polymorphism rs17132395 -
CHST12 Q9NRB3 VAR_021474 p.Ala145Pro Polymorphism rs17132399 -
CHST12 Q9NRB3 VAR_033738 p.Pro94Leu Polymorphism rs12536223 -
CHST13 Q8NET6 VAR_021477 p.Ala271Val Polymorphism rs1056523 -
CHST13 Q8NET6 VAR_021478 p.Arg317Gln Polymorphism rs1056522 -
CHST13 Q8NET6 VAR_053698 p.Pro146Ser Polymorphism rs34311016 -
CHST14 Q8NCH0 VAR_063754 p.Arg135Gly Disease - Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]
CHST14 Q8NCH0 VAR_063755 p.Leu137Gln Disease - Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]
CHST14 Q8NCH0 VAR_063756 p.Arg213Pro Disease rs121908257 Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]
CHST14 Q8NCH0 VAR_063757 p.Tyr293Cys Disease rs121908258 Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]
CHST14 Q8NCH0 VAR_064555 p.Pro281Leu Disease - Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]
CHST14 Q8NCH0 VAR_064556 p.Cys289Ser Disease - Ehlers-Danlos syndrome musculocontractural type (EDSMC) [MIM:601776]
CHST3 Q7LGC8 VAR_021413 p.Arg304Gln Disease rs28937593 Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]
CHST3 Q7LGC8 VAR_021414 p.Ile348Met Polymorphism rs3740128 -
CHST3 Q7LGC8 VAR_021415 p.Arg357Gln Polymorphism rs3740129 -
CHST3 Q7LGC8 VAR_047856 p.Arg222Trp Disease - Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]
CHST3 Q7LGC8 VAR_047857 p.Leu259Pro Disease - Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]
CHST3 Q7LGC8 VAR_047858 p.Leu307Pro Disease - Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]
CHST3 Q7LGC8 VAR_047859 p.Glu372Lys Disease - Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD) [MIM:143095]
CHST4 Q8NCG5 VAR_052528 p.His361Gln Polymorphism rs3813744 -
CHST5 Q9GZS9 VAR_021416 p.Thr318Met Polymorphism rs3826107 -
CHST5 Q9GZS9 VAR_057993 p.Ala311Thr Polymorphism rs7206332 -
CHST6 Q9GZX3 VAR_021417 p.Leu15Pro Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021418 p.Leu22Arg Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021419 p.Pro31Ser Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021420 p.His42Tyr Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021421 p.Arg50Cys Disease rs28937877 Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021422 p.Ser51Leu Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021423 p.Gly52Asp Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021424 p.Ser53Leu Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021425 p.Leu59Pro Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021426 p.Asn61Thr Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021427 p.Val66Leu Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021428 p.Tyr68His Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021429 p.Met70Leu Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021430 p.Pro72Ser Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021431 p.Val76Met Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021432 p.Arg93His Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021433 p.Arg97Pro Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021434 p.Ser98Trp Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021435 p.Cys102Gly Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021436 p.Cys102Tyr Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021437 p.Met104Val Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021438 p.Phe107Ser Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021439 p.Tyr110Cys Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021440 p.Phe121Leu Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021441 p.Gln122Pro Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021442 p.Arg127Cys Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021443 p.Ala128Val Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021444 p.Ser131Pro Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021445 p.Leu152Pro Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021446 p.Arg162Gly Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021447 p.Arg166Pro Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021448 p.Lys174Arg Disease rs28937878 Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021449 p.Arg177His Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021450 p.Val198Glu Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021451 p.Leu200Arg Disease rs28937879 Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021452 p.Arg202Ser Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021453 p.Asp203Glu Disease rs28937878 Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021454 p.Pro204Gln Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021455 p.Arg205Leu Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021456 p.Arg205Gln Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021457 p.Ala206Thr Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021458 p.Ala206Val Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021459 p.Ser210Phe Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021460 p.Arg211Gln Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021461 p.Arg211Trp Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021462 p.Ala217Thr Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021463 p.Asp221Glu Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021464 p.Asp221Tyr Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021465 p.His249Pro Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021466 p.Tyr268Cys Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021467 p.Glu274Lys Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021468 p.Leu276Pro Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_021469 p.Tyr358Asp Disease - Macular corneal dystrophy (MCD) [MIM:217800]
CHST6 Q9GZX3 VAR_033735 p.Asn369Asp Polymorphism rs35036798 -
CHST8 Q9H2A9 VAR_036538 p.Arg247His Unclassified - A colorectal cancer sample
CHST9 Q7L1S5 VAR_055150 p.Ser122Asn Polymorphism rs17694469 -
CHSY1 Q86X52 VAR_021173 p.Pro359Ser Polymorphism rs3743193 -
CHSY1 Q86X52 VAR_028009 p.Gln652His Polymorphism rs4426333 -
CHSY1 Q86X52 VAR_065822 p.Pro539Arg Disease - Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282]
CHSY3 Q70JA7 VAR_021174 p.Asp764Gly Polymorphism rs2015018 -
CHSY3 Q70JA7 VAR_027540 p.Gly615Glu Polymorphism rs10068403 -
CHTF18 Q8WVB6 VAR_043990 p.Ser63Phe Polymorphism rs2277902 -
CHTF18 Q8WVB6 VAR_043991 p.Gln82Pro Polymorphism rs2277901 -
CHTF18 Q8WVB6 VAR_043992 p.Lys244Arg Polymorphism rs3765263 -
CHTF18 Q8WVB6 VAR_043993 p.Ala466Ser Polymorphism rs34595992 -
CHTF18 Q8WVB6 VAR_043994 p.Pro928Leu Polymorphism rs2294451 -
CHUK O15111 VAR_021359 p.Val268Ile Polymorphism rs2230804 -
CHUK O15111 VAR_040565 p.Ser126Cys Polymorphism rs34427437 -
CHUK O15111 VAR_040566 p.Val155Ala Polymorphism rs2230803 -
CIAPIN1 Q6FI81 VAR_033747 p.Ala34Glu Polymorphism rs11557672 -
CIAPIN1 Q6FI81 VAR_033748 p.Gln52Glu Polymorphism rs11557674 -
CIB1 Q99828 VAR_019565 p.Ser44Thr Polymorphism rs3210935 -
CIB1 Q99828 VAR_048636 p.Ile106Thr Polymorphism rs11551250 -
CIB3 Q96Q77 VAR_060268 p.Gly139Glu Polymorphism rs6512087 -
CIB4 A0PJX0 VAR_048637 p.His181Arg Polymorphism rs935172 -
CIC Q96RK0 VAR_028302 p.Ser982Gly Polymorphism rs17339472 -
CIC Q96RK0 VAR_035936 p.Glu104Lys Unclassified - A breast cancer sample
CIC Q96RK0 VAR_035937 p.Ala652Thr Unclassified - A breast cancer sample
CIC Q96RK0 VAR_065090 p.Arg492Trp Unclassified - -
CIDEA O60543 VAR_048738 p.Val115Phe Polymorphism rs45619832 -
CIITA P33076 VAR_005128 p.Gly500Ala Polymorphism rs4774 -
CIITA P33076 VAR_015551 p.Leu469Pro Disease - Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]
CIITA P33076 VAR_015552 p.Ala658Gly Polymorphism rs2229319 -
CIITA P33076 VAR_015553 p.Phe962Ser Disease - Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]
CIITA P33076 VAR_029270 p.Leu45Val Polymorphism rs2229317 -
CIITA P33076 VAR_047907 p.Arg174Gly Polymorphism rs8046121 -
CIITA P33076 VAR_047908 p.Gln900Arg Polymorphism rs7197779 -
CIITA P33076 VAR_057711 p.Val782Ala Polymorphism rs13336804 -
CIITA P33076 VAR_060104 p.Ser781Leu Polymorphism rs13330686 -
CILP O75339 VAR_022768 p.Trp59Leu Polymorphism rs2585033 -
CILP O75339 VAR_022769 p.Ser327Phe Polymorphism - -
CILP O75339 VAR_022770 p.Ile395Thr Polymorphism rs2073711 -
CILP O75339 VAR_022771 p.Lys575Glu Polymorphism rs2679118 -
CILP O75339 VAR_022772 p.Ala895Val Polymorphism - -
CILP O75339 VAR_022773 p.Gln979Arg Polymorphism rs2679117 -
CILP O75339 VAR_022774 p.Asp1101Asn Polymorphism - -
CILP O75339 VAR_022775 p.Gly1166Ser Polymorphism rs938952 -
CILP O75339 VAR_022776 p.Val1168Ala Polymorphism - -
CINP Q9BW66 VAR_039979 p.Arg164His Polymorphism rs7011 -
CINP Q9BW66 VAR_039980 p.Asp177Asn Unclassified - A colorectal cancer sample
CIRH1A Q969X6 VAR_017445 p.Arg565Trp Disease - North American Indian childhood cirrhosis (NAIC) [MIM:604901]
CIRH1A Q969X6 VAR_053388 p.Arg438His Polymorphism rs8056684 -
CIT O14578 VAR_040417 p.Gly7Glu Polymorphism rs36054900 -
CIT O14578 VAR_040418 p.Arg9Gln Polymorphism rs56193743 -
CIT O14578 VAR_040419 p.Leu183Phe Polymorphism - -
CITED1 Q99966 VAR_053038 p.His96Gln Polymorphism rs3012627 -
CIZ1 Q9ULV3 VAR_056820 p.Ala219Thr Polymorphism rs45588035 -
CIZ1 Q9ULV3 VAR_056821 p.Ser578Phe Polymorphism rs12334 -
CIZ1 Q9ULV3 VAR_056822 p.Val638Met Polymorphism rs11549266 -
CIZ1 Q9ULV3 VAR_063105 p.Glu370Gly Polymorphism rs45554035 -
CIZ1 Q9ULV3 VAR_063106 p.Arg847Gln Polymorphism rs11549260 -
CKAP2 Q8WWK9 VAR_027005 p.Ile323Val Polymorphism rs7335867 -
CKAP2 Q8WWK9 VAR_054018 p.Met236Lys Polymorphism rs35975899 -
CKAP2L Q8IYA6 VAR_039735 p.Leu19Phe Polymorphism rs36093393 -
CKAP2L Q8IYA6 VAR_039736 p.Lys26Arg Polymorphism rs35593767 -
CKAP2L Q8IYA6 VAR_039737 p.Asn62Ser Polymorphism rs17042344 -
CKAP2L Q8IYA6 VAR_039738 p.Thr104Ile Polymorphism rs13007595 -
CKAP2L Q8IYA6 VAR_039739 p.Arg263Ser Polymorphism rs17042341 -
CKAP2L Q8IYA6 VAR_039740 p.Ile375Val Polymorphism rs6731822 -
CKAP2L Q8IYA6 VAR_039741 p.Pro379Ala Polymorphism rs2676126 -
CKAP2L Q8IYA6 VAR_039742 p.Ser519Gly Polymorphism rs36046436 -
CKAP2L Q8IYA6 VAR_039743 p.Leu614Ser Polymorphism rs3811040 -
CKAP2L Q8IYA6 VAR_039744 p.Glu706Asp Polymorphism rs3811039 -
CKAP4 Q07065 VAR_027853 p.Ala348Thr Polymorphism rs3088113 -
CKAP5 Q14008 VAR_045627 p.Tyr785Cys Polymorphism rs11038988 -
CKB P12277 VAR_025838 p.Lys177Arg Polymorphism rs36002620 -
CKB P12277 VAR_025839 p.Ser309Leu Polymorphism rs35156510 -
CKB P12277 VAR_049674 p.Leu360Phe Polymorphism rs12505 -
CKM P06732 VAR_018680 p.Glu83Gly Polymorphism rs11559024 -
CKM P06732 VAR_018681 p.Leu127Val Polymorphism rs17875653 -
CKM P06732 VAR_018682 p.Gly243Ala Polymorphism rs17875625 -
CKM P06732 VAR_049675 p.Thr166Met Polymorphism rs17357122 -
CLASP1 Q7Z460 VAR_053818 p.Ile233Thr Polymorphism rs17761055 -
CLASRP Q8N2M8 VAR_016809 p.Lys174Glu Polymorphism rs4803794 -
CLASRP Q8N2M8 VAR_035490 p.Leu213Ser Unclassified - A breast cancer sample
CLC Q05315 VAR_014765 p.Ala28Val Polymorphism rs17608 -
CLCA1 A8K7I4 VAR_043146 p.Asn357Ser Polymorphism rs2734705 -
CLCA1 A8K7I4 VAR_043147 p.Met524Thr Polymorphism rs2791494 -
CLCA1 A8K7I4 VAR_054654 p.Leu65Phe Polymorphism rs2145412 -
CLCA1 A8K7I4 VAR_054655 p.Arg152Lys Polymorphism rs2753386 -
CLCA1 A8K7I4 VAR_054656 p.Glu406Val Polymorphism rs1142185 -
CLCA1 A8K7I4 VAR_054657 p.Lys426Arg Polymorphism rs4647852 -
CLCA1 A8K7I4 VAR_054658 p.Tyr661His Polymorphism rs5744409 -
CLCA1 A8K7I4 VAR_054659 p.Lys760Asn Polymorphism rs2791483 -
CLCA2 Q9UQC9 VAR_043148 p.Gln306Glu Polymorphism rs17409304 -
CLCA2 Q9UQC9 VAR_043149 p.Gly754Glu Unclassified - A breast cancer sample
CLCA2 Q9UQC9 VAR_054057 p.Val80Ile Polymorphism rs11580625 -
CLCA2 Q9UQC9 VAR_054058 p.Gly534Asp Polymorphism rs1413426 -
CLCA3P Q9Y6N3 VAR_035296 p.Tyr84Thr Polymorphism rs2292830 -
CLCA3P Q9Y6N3 VAR_035297 p.Ile104Thr Polymorphism rs2292829 -
CLCA4 Q14CN2 VAR_045816 p.Pro43Ser Polymorphism rs2231580 -
CLCA4 Q14CN2 VAR_045817 p.Asp443Val Polymorphism rs2839932 -
CLCA4 Q14CN2 VAR_045818 p.Met449Leu Polymorphism rs1011048 -
CLCA4 Q14CN2 VAR_045819 p.Val810Leu Polymorphism rs2231604 -
CLCC1 Q96S66 VAR_034673 p.Ser368Arg Polymorphism rs168107 -
CLCF1 Q9UBD9 VAR_028354 p.Arg197Leu Disease - Cold-induced sweating syndrome type 2 (CISS2) [MIM:610313]
CLCN1 P35523 VAR_001582 p.Arg105Cys Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001583 p.Gly118Trp Polymorphism rs10282312 -
CLCN1 P35523 VAR_001584 p.Asp136Gly Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001585 p.Tyr150Cys Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001586 p.Phe161Val Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001586 p.Phe161Val Disease - Thomsen disease (THD) [MIM:160800]
CLCN1 P35523 VAR_001587 p.Val165Gly Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001588 p.Phe167Leu Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001589 p.Gly200Arg Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001589 p.Gly200Arg Disease - Thomsen disease (THD) [MIM:160800]
CLCN1 P35523 VAR_001590 p.Gly230Glu Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001590 p.Gly230Glu Disease - Thomsen disease (THD) [MIM:160800]
CLCN1 P35523 VAR_001591 p.Val236Leu Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001592 p.Tyr261Cys Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001593 p.Gly285Glu Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001594 p.Val286Ala Disease - Thomsen disease (THD) [MIM:160800]
CLCN1 P35523 VAR_001595 p.Ile290Met Disease - Thomsen disease (THD) [MIM:160800]
CLCN1 P35523 VAR_001596 p.Glu291Lys Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001597 p.Arg300Gln Polymorphism - -
CLCN1 P35523 VAR_001598 p.Phe307Ser Disease - Thomsen disease (THD) [MIM:160800]
CLCN1 P35523 VAR_001599 p.Ala313Thr Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001599 p.Ala313Thr Disease - Thomsen disease (THD) [MIM:160800]
CLCN1 P35523 VAR_001600 p.Arg317Gln Disease - Thomsen disease (THD) [MIM:160800]
CLCN1 P35523 VAR_001601 p.Val327Ile Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001602 p.Ile329Thr Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001603 p.Arg338Gln Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001603 p.Arg338Gln Disease - Thomsen disease (THD) [MIM:160800]
CLCN1 P35523 VAR_001604 p.Phe413Cys Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001605 p.Ala415Val Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001606 p.Ala437Thr Polymorphism rs41276054 -
CLCN1 P35523 VAR_001607 p.Pro480Leu Disease - Thomsen disease (THD) [MIM:160800]
CLCN1 P35523 VAR_001608 p.Gly482Arg Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001609 p.Met485Val Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001610 p.Arg496Ser Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001611 p.Gln552Arg Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001611 p.Gln552Arg Disease - Thomsen disease (THD) [MIM:160800]
CLCN1 P35523 VAR_001612 p.Ile556Asn Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001612 p.Ile556Asn Disease - Thomsen disease (THD) [MIM:160800]
CLCN1 P35523 VAR_001613 p.Val563Ile Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_001614 p.Phe708Leu Disease - Autosomal recessive myotonia congenita (MCR) [MIM:255700]
CLCN1 P35523 VAR_036300 p.Glu548Lys Unclassified - A breast cancer sample
CLCN1 P35523 VAR_047779 p.Pro727Leu Polymorphism rs13438232 -
CLCN2 P51788 VAR_015989 p.Gly715Glu Polymorphism rs28938470 -
CLCN2 P51788 VAR_054550 p.Thr668Ser Polymorphism rs9820367 -
CLCN2 P51788 VAR_054551 p.Glu718Asp Polymorphism rs2228292 -
CLCN2 P51788 VAR_057886 p.Pro48Arg Unclassified - -
CLCN2 P51788 VAR_057887 p.Arg68His Unclassified - -
CLCN2 P51788 VAR_057888 p.Gly199Ala Unclassified - -
CLCN2 P51788 VAR_057889 p.Arg235Gln Unclassified - -
CLCN2 P51788 VAR_057890 p.Arg577Gln Unclassified - -
CLCN2 P51788 VAR_057891 p.Arg644Cys Unclassified - -
CLCN2 P51788 VAR_057892 p.Arg646Gln Unclassified - -
CLCN2 P51788 VAR_057893 p.Arg725Trp Unclassified - -
CLCN2 P51788 VAR_057894 p.Arg747His Unclassified - -
CLCN2 P51788 VAR_058426 p.Ser719Leu Unclassified - -
CLCN5 P51795 VAR_001616 p.Gly57Val Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_001617 p.Leu200Arg Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_001618 p.Ser244Leu Disease - Hypophosphatemic rickets X-linked recessive (XLRH) [MIM:300554]
CLCN5 P51795 VAR_001619 p.Arg280Pro Disease - Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]
CLCN5 P51795 VAR_001620 p.Gly506Glu Disease - Nephrolithiasis type 1 (NPHL1) [MIM:310468]
CLCN5 P51795 VAR_001621 p.Gly512Arg Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_001622 p.Ser520Pro Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_001623 p.Glu527Asp Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_048694 p.Met142Ile Polymorphism rs34800648 -
CLCN5 P51795 VAR_065591 p.Gly179Asp Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065592 p.Ser203Leu Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065593 p.Gly212Ala Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065594 p.Cys219Arg Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065595 p.Cys221Arg Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065596 p.Leu225Pro Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065597 p.Gly260Val Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065598 p.Glu267Ala Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065600 p.Ser270Gly Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065601 p.Ser270Arg Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065602 p.Tyr272Cys Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065603 p.Phe273Leu Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065604 p.Leu278Phe Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065605 p.Asn340Lys Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065606 p.Gly462Asp Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065607 p.Leu469Pro Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065608 p.Gly513Glu Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065609 p.Gly513Arg Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065610 p.Arg516Trp Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065611 p.Ile524Lys Disease - Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis (LMWPHN) [MIM:308990]
CLCN5 P51795 VAR_065612 p.Ser545Asn Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065613 p.Lys546Glu Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065614 p.Trp547Gly Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN5 P51795 VAR_065615 p.Thr657Ser Disease - Nephrolithiasis type 2 (NPHL2) [MIM:300009]
CLCN6 P51797 VAR_023051 p.Glu198Gly Polymorphism rs198400 -
CLCN7 P51798 VAR_017838 p.Arg762Gln Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
CLCN7 P51798 VAR_017838 p.Arg762Gln Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_017839 p.Leu766Pro Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_017840 p.Arg767Trp Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
CLCN7 P51798 VAR_017840 p.Arg767Trp Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_020997 p.Gly215Arg Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
CLCN7 P51798 VAR_020998 p.Gly240Arg Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_020999 p.Pro249Arg Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_021000 p.Arg286Gln Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
CLCN7 P51798 VAR_021001 p.Met332Val Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_021002 p.Val418Met Polymorphism rs12926089 -
CLCN7 P51798 VAR_021003 p.Leu490Phe Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
CLCN7 P51798 VAR_021004 p.Arg526Trp Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_021005 p.Leu614Pro Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_021006 p.Gly677Val Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
CLCN7 P51798 VAR_021007 p.Ser744Phe Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_021008 p.Arg767Gln Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_037427 p.Ile261Phe Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_064637 p.Leu132Pro Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_064638 p.Asn214Ser Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_064640 p.Phe318Leu Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
CLCN7 P51798 VAR_064641 p.Arg403Gln Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_064642 p.Gly521Arg Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_064643 p.Arg526Gln Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_064644 p.Leu549Pro Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_064645 p.Leu651Pro Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_064646 p.Phe758Leu Disease - Osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]
CLCN7 P51798 VAR_064647 p.Arg762Trp Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCN7 P51798 VAR_064648 p.Arg767Pro Disease - Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
CLCNKA P51800 VAR_014465 p.Ala447Thr Polymorphism rs1805152 -
CLCNKA P51800 VAR_019787 p.Arg83Gly Polymorphism rs10927887 -
CLCNKA P51800 VAR_019788 p.Tyr315Phe Polymorphism rs12126269 -
CLCNKA P51800 VAR_030784 p.Met67Ile Polymorphism rs17855678 -
CLCNKA P51800 VAR_033768 p.Arg45His Polymorphism rs35932996 -
CLCNKA P51800 VAR_033769 p.Ala287Val Polymorphism rs34188929 -
CLCNKA P51800 VAR_048695 p.Arg8His Polymorphism rs9442189 -
CLCNKA P51800 VAR_059209 p.Arg534Trp Polymorphism rs12140223 -
CLCNKA P51800 VAR_061095 p.Pro683Leu Polymorphism rs12746751 -
CLCNKA P51800 VAR_063074 p.Trp80Cys Disease - Bartter syndrome type 4B (BS4B) [MIM:613090]
CLCNKB P51801 VAR_001624 p.Pro124Leu Disease - Bartter syndrome type 3 (BS3) [MIM:607364]
CLCNKB P51801 VAR_001625 p.Ala204Thr Disease - Bartter syndrome type 3 (BS3) [MIM:607364]
CLCNKB P51801 VAR_001626 p.Ala349Asp Disease - Bartter syndrome type 3 (BS3) [MIM:607364]
CLCNKB P51801 VAR_001627 p.Tyr432His Disease - Bartter syndrome type 3 (BS3) [MIM:607364]
CLCNKB P51801 VAR_001628 p.Arg438Cys Disease - Bartter syndrome type 3 (BS3) [MIM:607364]
CLCNKB P51801 VAR_014466 p.Ser88Arg Polymorphism rs5256 -
CLCNKB P51801 VAR_014467 p.Asn143His Polymorphism rs5259 -
CLCNKB P51801 VAR_014468 p.Val334Leu Polymorphism rs5251 -
CLCNKB P51801 VAR_014469 p.Met562Thr Polymorphism rs5253 -
CLCNKB P51801 VAR_024409 p.Lys578Glu Polymorphism rs2275166 -
CLCNKB P51801 VAR_033770 p.Phe4Leu Polymorphism rs34851419 -
CLCNKB P51801 VAR_033771 p.Val104Ile Polymorphism rs35530360 -
CLCNKB P51801 VAR_033772 p.Ala214Gly Polymorphism rs1889789 -
CLCNKB P51801 VAR_033773 p.Ile419Val Polymorphism rs6650119 -
CLCNKB P51801 VAR_046797 p.Arg27Leu Polymorphism rs2015352 -
CLCNKB P51801 VAR_046798 p.Val126Leu Polymorphism rs5258 -
CLCNKB P51801 VAR_046799 p.Arg395Trp Polymorphism rs34255952 -
CLCNKB P51801 VAR_046800 p.Thr481Ser Polymorphism rs12140311 -
CLCNKB P51801 VAR_046801 p.Ser660Leu Polymorphism rs5255 -
CLDN14 O95500 VAR_010738 p.Val85Asp Disease - Deafness autosomal recessive type 29 (DFNB29) [MIM:614035]
CLDN14 O95500 VAR_017227 p.Thr4Met Polymorphism - -
CLDN16 Q9Y5I7 VAR_008172 p.Gly239Arg Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_008173 p.Met71Arg Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_008174 p.Leu167Pro Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_008175 p.Gly191Arg Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_008176 p.Gly198Asp Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_008177 p.Phe232Cys Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_008178 p.Gly233Asp Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_008179 p.Ser235Phe Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_017228 p.His141Asp Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_017229 p.Leu145Pro Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_017230 p.Arg149Leu Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_017231 p.Leu151Phe Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_017232 p.Leu151Pro Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_017233 p.Leu151Trp Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_017234 p.Gly198Ala Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_017235 p.Ala209Thr Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_017236 p.Arg216Thr Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN16 Q9Y5I7 VAR_017237 p.Ser235Pro Disease - Hypomagnesemia type 3 (HOMG3) [MIM:248250]
CLDN17 P56750 VAR_033774 p.Ala82Thr Polymorphism rs35531957 -
CLDN18 P56856 VAR_033775 p.Met149Leu Polymorphism rs17204075 -
CLDN19 Q8N6F1 VAR_031238 p.Leu13Phe Polymorphism rs12065961 -
CLDN19 Q8N6F1 VAR_031239 p.Gly20Asp Disease - Hypomagnesemia renal with ocular involvement (HOMG5) [MIM:248190]
CLDN19 Q8N6F1 VAR_031240 p.Gln57Glu Disease - Hypomagnesemia renal with ocular involvement (HOMG5) [MIM:248190]
CLDN19 Q8N6F1 VAR_031241 p.Leu90Pro Disease - Hypomagnesemia renal with ocular involvement (HOMG5) [MIM:248190]
CLDN23 Q96B33 VAR_059219 p.Val210Met Polymorphism rs12548737 -
CLDN24 A6NM45 VAR_055660 p.Leu18Phe Polymorphism rs7688467 -
CLDN25 C9JDP6 VAR_063401 p.His219Tyr Polymorphism rs35111413 -
CLDN6 P56747 VAR_017151 p.Ile143Val Polymorphism rs2257295 -
CLDN7 O95471 VAR_014538 p.Val197Ala Polymorphism rs4562 -
CLDN7 O95471 VAR_030736 p.Ala133Thr Polymorphism rs17849410 -
CLDN8 P56748 VAR_020387 p.Ser151Pro Polymorphism rs686364 -
CLDN8 P56748 VAR_024417 p.Thr129Ala Polymorphism rs685967 -
CLDN8 P56748 VAR_048739 p.Thr25Ala Polymorphism rs1557294 -
CLEC10A Q8IUN9 VAR_021262 p.Cys35Arg Polymorphism rs90951 -
CLEC10A Q8IUN9 VAR_050113 p.Arg73Lys Polymorphism rs16956478 -
CLEC10A Q8IUN9 VAR_050114 p.Thr100Met Polymorphism rs35318160 -
CLEC10A Q8IUN9 VAR_050115 p.Ala203Gly Polymorphism rs35101468 -
CLEC11A Q9Y240 VAR_050116 p.Pro104Arg Polymorphism rs2303688 -
CLEC12A Q5QGZ9 VAR_037669 p.Lys244Gln Polymorphism rs479499 -
CLEC12B Q2HXU8 VAR_037670 p.Thr6Asn Polymorphism rs1359082 -
CLEC12B Q2HXU8 VAR_037671 p.Val116Leu Polymorphism rs637790 -
CLEC16A Q2KHT3 VAR_030288 p.Gly906Glu Polymorphism rs2241100 -
CLEC18A A5D8T8 VAR_059449 p.Val118Ala Polymorphism rs2549097 -
CLEC1A Q8NC01 VAR_050106 p.Gly26Ala Polymorphism rs2306894 -
CLEC1B Q9P126 VAR_031047 p.Ile20Val Polymorphism rs612593 -
CLEC1B Q9P126 VAR_031048 p.Ser24Pro Polymorphism rs2273986 -
CLEC1B Q9P126 VAR_031049 p.Ser28Phe Polymorphism rs2273987 -
CLEC1B Q9P126 VAR_031050 p.Gly64Asp Polymorphism rs583903 -
CLEC2A Q6UVW9 VAR_029629 p.Gly136Asp Polymorphism rs526680 -
CLEC2D Q9UHP7 VAR_038172 p.Asn19Lys Polymorphism rs16914640 -
CLEC2D Q9UHP7 VAR_038173 p.Leu23Val Polymorphism rs3764022 -
CLEC3A O75596 VAR_021259 p.Gln197Lys Polymorphism rs2072663 -
CLEC3B P05452 VAR_004189 p.Ala55Ser Polymorphism - -
CLEC3B P05452 VAR_004190 p.Val58Met Polymorphism - -
CLEC3B P05452 VAR_012318 p.Gly106Ser Polymorphism rs13963 -
CLEC4A Q9UMR7 VAR_021260 p.His36Leu Polymorphism rs2024301 -
CLEC4D Q8WXI8 VAR_021261 p.Ser32Gly Polymorphism rs4304840 -
CLEC4F Q8N1N0 VAR_054429 p.Arg101Gln Polymorphism rs2075221 -
CLEC4F Q8N1N0 VAR_054430 p.Arg351His Polymorphism rs722896 -
CLEC4F Q8N1N0 VAR_054431 p.Lys564Arg Polymorphism rs2287101 -
CLEC4M Q9H2X3 VAR_021957 p.Asp291Asn Polymorphism rs2277998 -
CLEC4M Q9H2X3 VAR_050107 p.Arg164Gln Polymorphism rs11465376 -
CLEC4M Q9H2X3 VAR_050108 p.Tyr205Cys Polymorphism rs479448 -
CLEC4M Q9H2X3 VAR_050109 p.Tyr251Cys Polymorphism rs479448 -
CLEC5A Q9NY25 VAR_050110 p.Arg141His Polymorphism rs35942193 -
CLEC7A Q9BXN2 VAR_050111 p.Ile223Ser Polymorphism rs16910527 -
CLEC9A Q6UXN8 VAR_050112 p.Ala107Gly Polymorphism rs11831360 -
CLGN O14967 VAR_024400 p.Ala160Ser Polymorphism rs2567241 -
CLGN O14967 VAR_033776 p.Val290Ile Polymorphism rs2175563 -
CLGN O14967 VAR_048590 p.Arg352Trp Polymorphism rs12513290 -
CLIC3 O95833 VAR_020424 p.Pro38His Polymorphism rs2292923 -
CLIC5 Q9NZA1 VAR_047541 p.Pro257His Polymorphism rs35822882 -
CLIC5 Q9NZA1 VAR_059208 p.Thr114Ala Polymorphism rs723580 -
CLIC6 Q96NY7 VAR_014139 p.Asp632Gly Polymorphism rs3171439 -
CLIP1 P30622 VAR_020398 p.Asp1080Glu Polymorphism rs1129167 -
CLIP1 P30622 VAR_036446 p.Met1213Ile Unclassified - A breast cancer sample
CLIP1 P30622 VAR_048672 p.Arg780Trp Polymorphism rs3741447 -
CLIP1 P30622 VAR_048673 p.Ser941Pro Polymorphism rs17883517 -
CLIP1 P30622 VAR_048674 p.Ala1224Ser Polymorphism rs17881033 -
CLIP1 P30622 VAR_059206 p.Ser162Pro Polymorphism rs7963597 -
CLIP2 Q9UDT6 VAR_023618 p.Arg977Pro Polymorphism rs2522943 -
CLIP2 Q9UDT6 VAR_055636 p.Asp961Glu Polymorphism rs17145468 -
CLIP3 Q96DZ5 VAR_027962 p.Asp175Val Polymorphism rs17851002 -
CLIP4 Q8N3C7 VAR_048675 p.Arg486Leu Polymorphism rs3100246 -
CLIP4 Q8N3C7 VAR_048676 p.Thr613Pro Polymorphism rs34327508 -
CLK1 P49759 VAR_040409 p.Ser61Phe Polymorphism rs55989135 -
CLK1 P49759 VAR_040410 p.Arg118Gly Polymorphism rs56135616 -
CLK1 P49759 VAR_040411 p.Pro307Ser Polymorphism rs35412475 -
CLK1 P49759 VAR_040412 p.Met440Thr Polymorphism rs35393352 -
CLK1 P49759 VAR_046551 p.Asn99Asp Polymorphism rs6735666 -
CLK1 P49759 VAR_051620 p.Glu459Gly Polymorphism rs12709 -
CLK3 P49761 VAR_040413 p.Arg486Cys Polymorphism - -
CLK3 P49761 VAR_045579 p.Gln607Arg Polymorphism - -
CLK3 P49761 VAR_045580 p.Arg628Trp Polymorphism - -
CLK4 Q9HAZ1 VAR_040414 p.Leu352Phe Polymorphism rs35272416 -
CLK4 Q9HAZ1 VAR_040415 p.Ile363Val Polymorphism rs55746655 -
CLLU1 Q5K131 VAR_034663 p.Ser9Phe Polymorphism rs12580153 -
CLMN Q96JQ2 VAR_050866 p.Pro963Leu Polymorphism rs10149705 -
CLMP Q9H6B4 VAR_049824 p.Arg69His Polymorphism rs2276348 -
CLN3 Q13286 VAR_005131 p.Leu101Pro Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
CLN3 Q13286 VAR_005132 p.Leu170Pro Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
CLN3 Q13286 VAR_005133 p.Glu295Lys Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
CLN3 Q13286 VAR_005134 p.Val330Phe Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
CLN3 Q13286 VAR_005135 p.Arg334Cys Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
CLN3 Q13286 VAR_005136 p.Arg334His Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
CLN3 Q13286 VAR_066892 p.Cys134Arg Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
CLN3 Q13286 VAR_066893 p.Gly187Ala Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
CLN3 Q13286 VAR_066894 p.Gly189Arg Disease - Neuronal ceroid lipofuscinosis type 3 (CLN3) [MIM:204200]
CLN5 O75503 VAR_005137 p.Asp230Asn Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN5 O75503 VAR_005138 p.Lys319Arg Polymorphism rs1800209 -
CLN5 O75503 VAR_042700 p.Arg63His Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN5 O75503 VAR_042701 p.Tyr209Asp Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN5 O75503 VAR_042702 p.Arg63Pro Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN5 O75503 VAR_059031 p.Glu219Ala Polymorphism rs11842935 -
CLN5 O75503 VAR_059032 p.Trp330Cys Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN5 O75503 VAR_066895 p.Trp26Arg Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN5 O75503 VAR_066896 p.Cys77Tyr Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN5 O75503 VAR_066897 p.Asn143Ser Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN5 O75503 VAR_066898 p.Leu149Pro Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN5 O75503 VAR_066899 p.Pro156Ser Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN5 O75503 VAR_066900 p.Trp158Arg Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN5 O75503 VAR_066901 p.Trp158Ser Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN5 O75503 VAR_066902 p.Asn193Lys Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN5 O75503 VAR_066903 p.Tyr325Cys Disease - Neuronal ceroid lipofuscinosis type 5 (CLN5) [MIM:256731]
CLN6 Q9NWW5 VAR_015683 p.Gly123Asp Disease rs28939384 Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_015686 p.Trp300Arg Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_021549 p.Arg62His Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_021550 p.Glu72Gln Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_021551 p.Tyr221Ser Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_021552 p.Met241Thr Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_021554 p.Pro299Leu Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_058436 p.Pro159Leu Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_058437 p.Tyr221Cys Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_065834 p.Arg6Thr Disease - Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
CLN6 Q9NWW5 VAR_065835 p.Ala34Thr Polymorphism - -
CLN6 Q9NWW5 VAR_065836 p.Leu47Phe Disease - Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
CLN6 Q9NWW5 VAR_065837 p.Leu67Pro Disease - Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
CLN6 Q9NWW5 VAR_065838 p.Asn77Lys Disease - Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
CLN6 Q9NWW5 VAR_065839 p.Arg103Gln Disease - Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
CLN6 Q9NWW5 VAR_065840 p.Arg149His Disease - Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
CLN6 Q9NWW5 VAR_065841 p.Phe238Thr Disease - Neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]
CLN6 Q9NWW5 VAR_065842 p.Ser308Thr Polymorphism - -
CLN6 Q9NWW5 VAR_066904 p.Ala12Thr Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_066905 p.Gly17Ser Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_066906 p.Asn90Lys Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_066907 p.Ser104Phe Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_066908 p.Arg149Cys Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_066909 p.Leu169Pro Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_066910 p.Phe186Ser Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_066911 p.Phe234Leu Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_066912 p.Arg252His Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_066913 p.Gly259Ser Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN6 Q9NWW5 VAR_066914 p.Pro297Thr Disease - Neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]
CLN8 Q9UBY8 VAR_013174 p.Arg24Gly Disease - Neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE) [MIM:610003]
CLN8 Q9UBY8 VAR_013175 p.Ala155Val Polymorphism - -
CLN8 Q9UBY8 VAR_026554 p.Leu16Met Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_026555 p.Thr170Met Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_026556 p.Arg204Cys Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_026557 p.Trp263Cys Disease rs28940569 Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_031704 p.His92Tyr Polymorphism rs34030778 -
CLN8 Q9UBY8 VAR_058438 p.Tyr158Cys Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_058439 p.Gly237Arg Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_060573 p.Ala30Pro Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_060575 p.Gln194Arg Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_066920 p.Arg70His Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_066921 p.Gln76Arg Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_066922 p.Ile107Ser Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_066923 p.Asn125Ser Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_066924 p.His139Tyr Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_066926 p.Gly221Ser Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_066927 p.Pro229Ala Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLN8 Q9UBY8 VAR_066928 p.Glu269Val Disease - Neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]
CLNK Q7Z7G1 VAR_037984 p.Ser65Gly Polymorphism rs16869924 -
CLNS1A P54105 VAR_015736 p.Gln20His Polymorphism - -
CLNS1A P54105 VAR_015737 p.Met218Thr Polymorphism - -
CLOCK O15516 VAR_029076 p.Leu395Ile Polymorphism rs6855837 -
CLOCK O15516 VAR_029077 p.His542Arg Polymorphism rs3762836 -
CLOCK O15516 VAR_040061 p.Ser208Cys Polymorphism rs34897046 -
CLOCK O15516 VAR_040062 p.Glu380Lys Polymorphism rs1056478 -
CLPB Q9H078 VAR_048740 p.Arg295Thr Polymorphism rs7938203 -
CLPS P04118 VAR_047105 p.Arg109Cys Polymorphism rs41270082 -
CLPS P04118 VAR_053040 p.Leu8Pro Polymorphism rs2766597 -
CLPTM1L Q96KA5 VAR_042754 p.Lys313Asn Unclassified - A breast cancer sample
CLPTM1L Q96KA5 VAR_042755 p.Thr537Met Polymorphism rs33955038 -
CLPX O76031 VAR_048826 p.Ile488Thr Polymorphism rs35754835 -
CLRN1 P58418 VAR_012241 p.Met120Lys Disease - Usher syndrome type 3 (USH3) [MIM:276902]
CLRN1 P58418 VAR_030345 p.Asn48Lys Disease - Usher syndrome type 3 (USH3) [MIM:276902]
CLRN1 P58418 VAR_030346 p.Leu150Pro Disease - Usher syndrome type 3 (USH3) [MIM:276902]
CLRN1 P58418 VAR_053825 p.Lys7Ile Polymorphism rs3796241 -
CLRN1 P58418 VAR_054555 p.Cys40Gly Disease - Usher syndrome type 3 (USH3) [MIM:276902]
CLRN1 P58418 VAR_054556 p.Ser105Pro Disease - Usher syndrome type 3 (USH3) [MIM:276902]
CLRN1 P58418 VAR_066673 p.Pro31Leu Disease - Retinitis pigmentosa type 61 (RP61) [MIM:614180]
CLRN1 P58418 VAR_066674 p.Leu154Trp Disease - Retinitis pigmentosa type 61 (RP61) [MIM:614180]
CLRN2 A0PK11 VAR_053826 p.Leu113Val Polymorphism rs13147559 -
CLRN2 A0PK11 VAR_053827 p.Ala153Thr Polymorphism rs2597791 -
CLRN3 Q8NCR9 VAR_053828 p.Phe75Ile Polymorphism rs35070529 -
CLSPN Q9HAW4 VAR_023439 p.Asn525Ser Polymorphism rs7537203 -
CLSPN Q9HAW4 VAR_035674 p.His439Arg Unclassified - A breast cancer sample
CLSPN Q9HAW4 VAR_050867 p.Pro892Thr Polymorphism rs34390044 -
CLSPN Q9HAW4 VAR_050868 p.Ser1280Leu Polymorphism rs35490896 -
CLSTN1 O94985 VAR_039552 p.Val474Ala Polymorphism rs17853245 -
CLSTN1 O94985 VAR_039553 p.Ser524Cys Polymorphism rs17853244 -
CLSTN1 O94985 VAR_039554 p.Pro583Arg Polymorphism rs17853243 -
CLSTN1 O94985 VAR_039555 p.Pro857His Polymorphism rs17855572 -
CLSTN1 O94985 VAR_039556 p.Phe870Ser Polymorphism rs17855573 -
CLSTN1 O94985 VAR_048582 p.Ala332Thr Polymorphism rs7550295 -
CLSTN2 Q9H4D0 VAR_036112 p.Ser193Ile Unclassified - A colorectal cancer sample
CLSTN2 Q9H4D0 VAR_036113 p.Arg765Gln Unclassified - A colorectal cancer sample
CLSTN2 Q9H4D0 VAR_039557 p.Val366Ile Polymorphism rs7632885 -
CLSTN2 Q9H4D0 VAR_055615 p.Ile331Thr Polymorphism rs17348572 -
CLSTN3 Q9BQT9 VAR_036114 p.His874Tyr Unclassified - A colorectal cancer sample
CLSTN3 Q9BQT9 VAR_048583 p.Ser209Gly Polymorphism rs7302230 -
CLTCL1 P53675 VAR_055653 p.Pro61Leu Polymorphism rs3747059 -
CLTCL1 P53675 VAR_055654 p.Lys205Arg Polymorphism rs5746697 -
CLTCL1 P53675 VAR_055655 p.Tyr279Cys Polymorphism rs807459 -
CLTCL1 P53675 VAR_055656 p.Glu691Lys Polymorphism rs1060374 -
CLTCL1 P53675 VAR_055657 p.Lys941Arg Polymorphism rs35398725 -
CLTCL1 P53675 VAR_055658 p.Arg945His Polymorphism rs36077768 -
CLTCL1 P53675 VAR_055659 p.Arg1046Cys Polymorphism rs712952 -
CLTCL1 P53675 VAR_059214 p.Asn1195Ser Polymorphism rs807547 -
CLTCL1 P53675 VAR_059215 p.Met1316Val Polymorphism rs1061325 -
CLTCL1 P53675 VAR_059216 p.Ile1394Thr Polymorphism rs1633399 -
CLTCL1 P53675 VAR_059217 p.Val1592Met Polymorphism rs2073738 -
CLTCL1 P53675 VAR_059218 p.Arg1620His Polymorphism rs5748024 -
CLU P10909 VAR_019366 p.Asn317His Polymorphism rs9331936 -
CLU P10909 VAR_019367 p.Asp328Asn Polymorphism rs9331938 -
CLU P10909 VAR_019368 p.Ser396Leu Polymorphism rs13494 -
CLUAP1 Q96AJ1 VAR_050869 p.Ala68Ser Polymorphism rs34115694 -
CLUAP1 Q96AJ1 VAR_050870 p.Arg401Trp Polymorphism rs9790 -
CLYBL Q8N0X4 VAR_032099 p.Asp28Tyr Polymorphism rs17577293 -
CLYBL Q8N0X4 VAR_032100 p.Val128Ile Polymorphism rs35680839 -
CLYBL Q8N0X4 VAR_032101 p.Ile241Val Polymorphism rs3783185 -
CMA1 P23946 VAR_011770 p.Gly46Arg Polymorphism rs5246 -
CMA1 P23946 VAR_011771 p.His66Arg Polymorphism rs5247 -
CMA1 P23946 VAR_029190 p.Arg98His Polymorphism rs13306252 -
CMBL Q96DG6 VAR_036751 p.Tyr155Cys Polymorphism rs35489000 -
CMPK2 Q5EBM0 VAR_055997 p.Lys433Arg Polymorphism rs6712141 -
CMTM1 Q8IZ96 VAR_053039 p.Ser10Thr Polymorphism rs16956746 -
CMTM2 Q8TAZ6 VAR_022154 p.Ile122Thr Polymorphism rs2290182 -
CMTM6 Q9NX76 VAR_061998 p.Thr91Ala Polymorphism rs35574803 -
CMYA5 Q8N3K9 VAR_042471 p.Tyr64Cys Polymorphism rs16877109 -
CMYA5 Q8N3K9 VAR_042472 p.Gln175His Polymorphism rs6895605 -
CMYA5 Q8N3K9 VAR_042473 p.Asp190Gly Polymorphism rs10942901 -
CMYA5 Q8N3K9 VAR_042474 p.Gly349Asp Polymorphism rs1366271 -
CMYA5 Q8N3K9 VAR_042475 p.Gly591Asp Polymorphism rs16877124 -
CMYA5 Q8N3K9 VAR_042476 p.Val1006Ala Polymorphism rs6893869 -
CMYA5 Q8N3K9 VAR_042477 p.Ala1295Val Polymorphism rs4704585 -
CMYA5 Q8N3K9 VAR_042478 p.Ile1309Val Polymorphism rs16877133 -
CMYA5 Q8N3K9 VAR_042479 p.Ala1333Val Polymorphism rs16877135 -
CMYA5 Q8N3K9 VAR_042480 p.Ile1380Val Polymorphism rs13158477 -
CMYA5 Q8N3K9 VAR_042481 p.Ala1567Glu Polymorphism rs1428223 -
CMYA5 Q8N3K9 VAR_042482 p.Ser1599Ala Polymorphism rs1428224 -
CMYA5 Q8N3K9 VAR_042483 p.Leu1669Ser Polymorphism rs1019762 -
CMYA5 Q8N3K9 VAR_042484 p.Ile1713Asn Polymorphism rs16877141 -
CMYA5 Q8N3K9 VAR_042485 p.Ile1721Val Polymorphism rs1428225 -
CMYA5 Q8N3K9 VAR_042486 p.Ala1875Val Polymorphism rs16877147 -
CMYA5 Q8N3K9 VAR_042487 p.Asp1917Gly Polymorphism rs16877150 -
CMYA5 Q8N3K9 VAR_042488 p.Ser1920Gly Polymorphism rs16877151 -
CMYA5 Q8N3K9 VAR_042489 p.Val2262Leu Polymorphism rs6859595 -
CMYA5 Q8N3K9 VAR_042490 p.Lys2383Glu Polymorphism rs7721884 -
CMYA5 Q8N3K9 VAR_042491 p.Thr2693Ile Polymorphism rs28362541 -
CMYA5 Q8N3K9 VAR_042492 p.Lys2906Asn Polymorphism rs2278239 -
CMYA5 Q8N3K9 VAR_042493 p.Gly2935Arg Polymorphism rs2278240 -
CMYA5 Q8N3K9 VAR_042494 p.His3358Gln Polymorphism rs3828611 -
CMYA5 Q8N3K9 VAR_042495 p.Lys3583Glu Polymorphism rs12514461 -
CMYA5 Q8N3K9 VAR_042496 p.Arg3927Gln Polymorphism rs1129770 -
CMYA5 Q8N3K9 VAR_042497 p.Pro4063Leu Polymorphism rs10043986 -
CMYA5 Q8N3K9 VAR_061611 p.Ser651Arg Polymorphism rs57544556 -
CNBD1 Q8NA66 VAR_032859 p.Asp64Asn Polymorphism rs10504829 -
CNBD1 Q8NA66 VAR_032860 p.Gln69Lys Polymorphism rs16894901 -
CNBD1 Q8NA66 VAR_061108 p.Met257Val Polymorphism rs60556175 -
CNDP1 Q96KN2 VAR_027147 p.Gly6Arg Polymorphism rs11151964 -
CNDP1 Q96KN2 VAR_027149 p.Ile113Val Polymorphism rs4263028 -
CNDP2 Q96KP4 VAR_057154 p.Tyr126His Polymorphism rs2278161 -
CNGA1 P29973 VAR_009295 p.Arg32Gln Polymorphism - -
CNGA1 P29973 VAR_009296 p.Asp118Asn Polymorphism - -
CNGA1 P29973 VAR_009297 p.Ser320Phe Disease - Retinitis pigmentosa type 49 (RP49) [MIM:613756]
CNGA1 P29973 VAR_047385 p.Asn122Asp Polymorphism rs28642966 -
CNGA2 Q16280 VAR_036603 p.Arg97His Unclassified - A breast cancer sample
CNGA2 Q16280 VAR_036604 p.Arg399Gln Unclassified - A breast cancer sample
CNGA2 Q16280 VAR_048748 p.Asp118His Polymorphism rs6627455 -
CNGA2 Q16280 VAR_048749 p.Glu663Lys Polymorphism rs714147 -
CNGA2 Q16280 VAR_061107 p.Trp139Leu Polymorphism rs35350051 -
CNGA3 Q16281 VAR_010902 p.Thr153Met Polymorphism rs34314205 -
CNGA3 Q16281 VAR_010903 p.Pro163Leu Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_010904 p.Arg283Gln Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_010905 p.Arg283Trp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_010906 p.Thr291Arg Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_010907 p.Val529Met Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_010908 p.Phe547Leu Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_010909 p.Gly557Arg Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_010910 p.Arg410Trp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_021963 p.Glu198Lys Polymorphism rs2271041 -
CNGA3 Q16281 VAR_047565 p.Pro48Leu Polymorphism - -
CNGA3 Q16281 VAR_047566 p.Asp162Val Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047567 p.Tyr181Cys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047568 p.Asn182Tyr Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047569 p.Leu186Phe Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047570 p.Cys191Tyr Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047571 p.Glu194Lys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047572 p.Arg223Trp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047573 p.Thr224Arg Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047574 p.Glu228Lys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047575 p.Phe249Ser Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047576 p.Asp260Asn Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047577 p.Tyr263Asp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047578 p.Gly267Asp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047579 p.Arg277Cys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047580 p.Arg277His Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047582 p.Ser341Pro Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047583 p.Thr369Ser Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047584 p.Pro372Ser Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047585 p.Phe380Ser Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047586 p.Ser401Pro Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047587 p.Met406Thr Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047588 p.Arg427Cys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047589 p.Arg436Trp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047590 p.Arg439Trp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047591 p.Ala469Thr Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047592 p.Asn471Ser Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047593 p.Asp485Val Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047594 p.Cys510Ser Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047595 p.Gly513Glu Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047596 p.Gly516Glu Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047597 p.Ile522Thr Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047598 p.Gly525Asp Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047599 p.Gly548Arg Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047600 p.Arg563His Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047601 p.Thr565Met Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047602 p.Arg569His Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047603 p.Tyr573Cys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047604 p.Glu590Lys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_047605 p.Glu593Lys Disease - Achromatopsia type 2 (ACHM2) [MIM:216900]
CNGA3 Q16281 VAR_066860 p.Leu527Met Disease - Leber congenital amaurosis (LCA)
CNGA4 Q8IV77 VAR_038480 p.Glu553Val Polymorphism rs325706 -
CNGB1 Q14028 VAR_058691 p.Arg100His Polymorphism rs13336595 -
CNGB1 Q14028 VAR_059225 p.Leu479Ile Polymorphism rs2303783 -
CNGB1 Q14028 VAR_059226 p.Val535Ala Polymorphism rs12927214 -
CNGB1 Q14028 VAR_059227 p.Asn731Lys Polymorphism rs376270 -
CNGB1 Q14028 VAR_059228 p.Leu745Ile Polymorphism rs10459809 -
CNGB1 Q14028 VAR_059229 p.Lys911Arg Polymorphism rs2303785 -
CNGB1 Q14028 VAR_059230 p.Ala961Ser Polymorphism rs16942445 -
CNGB1 Q14028 VAR_060491 p.Gly993Val Disease - Retinitis pigmentosa type 45 (RP45) [MIM:613767]
CNGB3 Q9NQW8 VAR_018109 p.Cys234Trp Polymorphism rs6471482 -
CNGB3 Q9NQW8 VAR_018110 p.Thr298Pro Polymorphism rs4961206 -
CNGB3 Q9NQW8 VAR_018111 p.Ser435Phe Disease - Achromatopsia type 3 (ACHM3) [MIM:262300]
CNGB3 Q9NQW8 VAR_018112 p.Glu755Gly Polymorphism rs3735972 -
CNGB3 Q9NQW8 VAR_024418 p.Ile307Val Polymorphism rs13265557 -
CNGB3 Q9NQW8 VAR_025524 p.Arg203Gln Disease rs16916632 Achromatopsia type 3 (ACHM3) [MIM:262300]
CNGB3 Q9NQW8 VAR_025525 p.Pro750Ser Polymorphism rs3735971 -
CNGB3 Q9NQW8 VAR_047606 p.Arg25His Polymorphism - -
CNGB3 Q9NQW8 VAR_047607 p.Asn27Ser Polymorphism rs35807406 -
CNGB3 Q9NQW8 VAR_047608 p.Gly107Arg Disease - Achromatopsia type 3 (ACHM3) [MIM:262300]
CNGB3 Q9NQW8 VAR_047609 p.Lys148Glu Disease - Achromatopsia type 3 (ACHM3) [MIM:262300]
CNGB3 Q9NQW8 VAR_047610 p.Ser156Phe Disease - Achromatopsia type 3 (ACHM3) [MIM:262300]
CNGB3 Q9NQW8 VAR_047611 p.Glu199Lys Disease - Achromatopsia type 3 (ACHM3) [MIM:262300]
CNGB3 Q9NQW8 VAR_047612 p.Pro309Leu Disease - Achromatopsia type 3 (ACHM3) [MIM:262300]
CNGB3 Q9NQW8 VAR_047613 p.Arg403Gln Unclassified - -
CNGB3 Q9NQW8 VAR_047614 p.Met466Thr Disease rs35010099 Achromatopsia type 3 (ACHM3) [MIM:262300]
CNGB3 Q9NQW8 VAR_047615 p.Tyr469Asp Disease rs35365413 Stargardt disease type 1 (STGD1) [MIM:248200]
CNGB3 Q9NQW8 VAR_047616 p.Asp494Asn Disease - Achromatopsia type 3 (ACHM3) [MIM:262300]
CNGB3 Q9NQW8 VAR_047617 p.Asp513Tyr Disease - Achromatopsia type 3 (ACHM3) [MIM:262300]
CNGB3 Q9NQW8 VAR_047618 p.Phe525Asn Disease - Achromatopsia type 3 (ACHM3) [MIM:262300]
CNGB3 Q9NQW8 VAR_047619 p.Gly558Cys Disease - Achromatopsia type 3 (ACHM3) [MIM:262300]
CNGB3 Q9NQW8 VAR_047620 p.Leu595Phe Disease - Achromatopsia type 3 (ACHM3) [MIM:262300]
CNGB3 Q9NQW8 VAR_047621 p.Thr672Pro Disease - Achromatopsia type 3 (ACHM3) [MIM:262300]
CNIH4 Q9P003 VAR_048830 p.Ala3Gly Polymorphism rs12123896 -
CNKSR1 Q969H4 VAR_057790 p.Arg662Trp Polymorphism rs17163640 -
CNKSR2 Q8WXI2 VAR_035681 p.Arg46His Unclassified - A colorectal cancer sample
CNNM1 Q9NRU3 VAR_057737 p.Arg819Gln Polymorphism rs2298316 -
CNNM2 Q9H8M5 VAR_065259 p.Arg38Gln Polymorphism rs76057237 -
CNNM2 Q9H8M5 VAR_065260 p.Thr568Ile Disease - Hypomagnesemia type 6 (HOMG6) [MIM:613882]
CNNM4 Q6P4Q7 VAR_033365 p.Gly126Arg Polymorphism rs17855817 -
CNNM4 Q6P4Q7 VAR_035946 p.Val134Leu Unclassified - A breast cancer sample
CNNM4 Q6P4Q7 VAR_058319 p.Ser196Pro Disease - Jalili syndrome (JALIS) [MIM:217080]
CNNM4 Q6P4Q7 VAR_058320 p.Ser200Tyr Disease - Jalili syndrome (JALIS) [MIM:217080]
CNNM4 Q6P4Q7 VAR_058321 p.Arg236Gln Disease - Jalili syndrome (JALIS) [MIM:217080]
CNNM4 Q6P4Q7 VAR_058322 p.Leu324Pro Disease - Jalili syndrome (JALIS) [MIM:217080]
CNOT1 A5YKK6 VAR_038254 p.Asp603Ala Polymorphism rs17854028 -
CNOT10 Q9H9A5 VAR_037957 p.Pro736Ser Polymorphism rs17849684 -
CNOT10 Q9H9A5 VAR_053982 p.Thr348Ser Polymorphism rs11558687 -
CNOT2 Q9NZN8 VAR_048750 p.Ala460Thr Polymorphism rs11178192 -
CNOT4 O95628 VAR_027833 p.Ala7Gly Polymorphism rs17480616 -
CNOT8 Q9UFF9 VAR_048751 p.Leu32Pro Polymorphism rs1139980 -
CNP P09543 VAR_033746 p.Gln207Arg Polymorphism rs34353668 -
CNPPD1 Q9BV87 VAR_022825 p.Ile262Thr Polymorphism rs1043160 -
CNPPD1 Q9BV87 VAR_024298 p.Leu292Pro Polymorphism rs1127102 -
CNPPD1 Q9BV87 VAR_024299 p.Pro366Leu Polymorphism rs17655123 -
CNPPD1 Q9BV87 VAR_024300 p.Leu383Pro Polymorphism rs4674361 -
CNPPD1 Q9BV87 VAR_056769 p.Arg344Thr Polymorphism rs1043161 -
CNPY3 Q9BT09 VAR_037731 p.Met145Ile Polymorphism rs1063252 -
CNPY3 Q9BT09 VAR_037732 p.Ser231Ile Polymorphism rs9471969 -
CNPY4 Q8N129 VAR_062216 p.Gly168Arg Polymorphism rs60551236 -
CNR2 P34972 VAR_029209 p.His316Tyr Polymorphism rs2229579 -
CNR2 P34972 VAR_054310 p.Gln63Arg Polymorphism rs2501432 -
CNST Q6PJW8 VAR_032530 p.Ser28Asn Polymorphism rs35286882 -
CNST Q6PJW8 VAR_032531 p.Leu87Ser Polymorphism rs6702823 -
CNST Q6PJW8 VAR_032532 p.Arg399Cys Polymorphism rs12075111 -
CNST Q6PJW8 VAR_056762 p.Gln183Arg Polymorphism rs12091148 -
CNTD1 Q8N815 VAR_037708 p.Thr145Pro Polymorphism rs12947820 -
CNTF P26441 VAR_013924 p.His182Arg Polymorphism rs6266 -
CNTF P26441 VAR_033777 p.Asn49Ser Polymorphism rs17152779 -
CNTLN Q9NXG0 VAR_025608 p.Arg562Cys Polymorphism rs3808782 -
CNTLN Q9NXG0 VAR_025609 p.Thr695Ile Polymorphism rs7035276 -
CNTLN Q9NXG0 VAR_025610 p.Thr1376Ala Polymorphism rs2499057 -
CNTLN Q9NXG0 VAR_056840 p.Thr284Ala Polymorphism rs3808795 -
CNTLN Q9NXG0 VAR_056841 p.Glu291Asp Polymorphism rs3808794 -
CNTN1 Q12860 VAR_011722 p.Val798Leu Polymorphism rs1056020 -
CNTN1 Q12860 VAR_035506 p.Pro794His Unclassified - A colorectal cancer sample
CNTN1 Q12860 VAR_049866 p.Glu824Gly Polymorphism rs11553341 -
CNTN2 Q02246 VAR_021918 p.Ala145Thr Polymorphism rs2275697 -
CNTN2 Q02246 VAR_021919 p.Arg657Trp Polymorphism rs2305276 -
CNTN2 Q02246 VAR_029129 p.Pro366Leu Polymorphism rs2229866 -
CNTN2 Q02246 VAR_049867 p.Val1024Ile Polymorphism rs17416074 -
CNTN3 Q9P232 VAR_019906 p.Ser630Asn Polymorphism rs626578 -
CNTN3 Q9P232 VAR_056042 p.Asn708Ser Polymorphism rs626578 -
CNTN4 Q8IWV2 VAR_035507 p.Thr176Pro Unclassified - A colorectal cancer sample
CNTN4 Q8IWV2 VAR_035508 p.Lys420Asn Unclassified - A colorectal cancer sample
CNTN5 O94779 VAR_019907 p.Ser23Ala Polymorphism rs10790978 -
CNTN5 O94779 VAR_019908 p.Leu70Arg Polymorphism rs7125822 -
CNTN5 O94779 VAR_019909 p.Asn81Ser Polymorphism rs10893933 -
CNTN5 O94779 VAR_019910 p.Ile530Val Polymorphism rs11223168 -
CNTN5 O94779 VAR_019911 p.Tyr1065Phe Polymorphism rs1944169 -
CNTN5 O94779 VAR_019912 p.Ser1079Thr Polymorphism rs1216183 -
CNTN5 O94779 VAR_033610 p.Met1094Val Polymorphism rs35208161 -
CNTN6 Q9UQ52 VAR_019913 p.Ala440Ser Polymorphism rs265771 -
CNTN6 Q9UQ52 VAR_033611 p.Phe150Ser Polymorphism rs6808056 -
CNTN6 Q9UQ52 VAR_035509 p.Thr108Ala Unclassified - A breast cancer sample
CNTN6 Q9UQ52 VAR_035510 p.Ser585Cys Unclassified - A breast cancer sample
CNTN6 Q9UQ52 VAR_065744 p.Arg303Gln Polymorphism rs41293401 -
CNTN6 Q9UQ52 VAR_065745 p.Phe314Val Polymorphism - -
CNTN6 Q9UQ52 VAR_065746 p.Glu954Val Unclassified - -
CNTNAP1 P78357 VAR_050267 p.Val522Leu Polymorphism rs35437096 -
CNTNAP2 Q9UHC6 VAR_046227 p.Arg114Gln Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046228 p.Thr218Met Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046229 p.Leu226Met Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046230 p.Arg283Cys Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046231 p.Ser382Asn Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046232 p.Asn407Ser Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046233 p.Asn418Asp Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046234 p.Glu680Lys Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046235 p.Pro699Gln Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046236 p.Tyr716Cys Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046237 p.Gly731Ser Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046238 p.Gly779Asp Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046239 p.Ile869Thr Unclassified - -
CNTNAP2 Q9UHC6 VAR_046240 p.Arg906His Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046241 p.Asp1038Asn Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046242 p.Val1102Ala Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046243 p.Ser1114Gly Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046244 p.Arg1119His Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046245 p.Asp1129His Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046246 p.Ala1227Thr Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046247 p.Ile1253Thr Polymorphism - -
CNTNAP2 Q9UHC6 VAR_046248 p.Thr1278Ile Polymorphism - -
CNTNAP3 Q9BZ76 VAR_046710 p.Ala628Ser Polymorphism rs1758272 -
CNTNAP3 Q9BZ76 VAR_046711 p.Arg845His Polymorphism rs7852039 -
CNTNAP4 Q9C0A0 VAR_050268 p.Gln513His Polymorphism rs6564343 -
CNTNAP4 Q9C0A0 VAR_050269 p.Asp1155Glu Polymorphism rs7202925 -
CNTNAP4 Q9C0A0 VAR_050270 p.Asn1300Ser Polymorphism rs34198820 -
CNTNAP4 Q9C0A0 VAR_061371 p.Leu276Val Polymorphism rs34251012 -
CNTNAP4 Q9C0A0 VAR_061372 p.Gln786Arg Polymorphism rs12933808 -
CNTNAP5 Q8WYK1 VAR_038518 p.Ser452Leu Polymorphism rs17727261 -
CNTNAP5 Q8WYK1 VAR_038519 p.Thr1195Met Polymorphism rs34165507 -
CNTRL Q7Z7A1 VAR_039559 p.Val56Ile Polymorphism rs10818503 -
CNTRL Q7Z7A1 VAR_039560 p.Pro216Leu Polymorphism rs10818504 -
CNTRL Q7Z7A1 VAR_039561 p.Ala889Thr Polymorphism rs17292952 -
CNTRL Q7Z7A1 VAR_061622 p.Met1146Val Polymorphism rs35342437 -
CNTROB Q8N137 VAR_024787 p.Pro578Gln Polymorphism rs11650083 -
CNTROB Q8N137 VAR_050877 p.Arg439Gln Polymorphism rs35421969 -
COA5 Q86WW8 VAR_065499 p.Ala53Pro Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
COASY Q13057 VAR_030299 p.Ser55Tyr Polymorphism rs615942 -
COBL O75128 VAR_029043 p.Asp577Ala Polymorphism rs10230120 -
COBL O75128 VAR_029044 p.Val607Ile Polymorphism rs2240090 -
COBL O75128 VAR_029045 p.Asp927Asn Polymorphism rs17134128 -
COBL O75128 VAR_029046 p.Ala1015Pro Polymorphism rs17134127 -
COBL O75128 VAR_050894 p.Pro526Leu Polymorphism rs17656599 -
COBL O75128 VAR_050895 p.His919Gln Polymorphism rs2240089 -
COCH O43405 VAR_008532 p.Pro51Ser Disease rs28938175 Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]
COCH O43405 VAR_008533 p.Val66Gly Disease - Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]
COCH O43405 VAR_008534 p.Gly88Glu Disease - Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]
COCH O43405 VAR_008535 p.Ile109Asn Disease - Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]
COCH O43405 VAR_008536 p.Trp117Arg Disease - Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]
COCH O43405 VAR_011925 p.Thr352Ser Polymorphism rs1045644 -
COCH O43405 VAR_011926 p.Pro532Ser Polymorphism rs1801963 -
COCH O43405 VAR_017175 p.Ala119Thr Disease - Deafness autosomal dominant type 9 (DFNA9) [MIM:601369]
COCH O43405 VAR_022259 p.Gly135Arg Polymorphism rs28400035 -
COCH O43405 VAR_022260 p.Asp281Asn Polymorphism rs28362775 -
COCH O43405 VAR_022261 p.Ile402Val Polymorphism rs28362778 -
COCH O43405 VAR_050896 p.Glu518Gly Polymorphism rs17097468 -
COG1 Q8WTW3 VAR_020415 p.Asn392Ser Polymorphism rs1026128 -
COG1 Q8WTW3 VAR_048756 p.Tyr744Cys Polymorphism rs7208207 -
COG1 Q8WTW3 VAR_059231 p.Met357Leu Polymorphism rs4375725 -
COG2 Q14746 VAR_029274 p.Asn304Lys Polymorphism rs6681346 -
COG2 Q14746 VAR_048757 p.Arg288His Polymorphism rs34796217 -
COG2 Q14746 VAR_048758 p.Val589Ile Polymorphism rs34109129 -
COG3 Q96JB2 VAR_036454 p.Arg620Cys Unclassified - A breast cancer sample
COG3 Q96JB2 VAR_055663 p.Asn747Ser Polymorphism rs2274285 -
COG4 Q9H9E3 VAR_058009 p.Thr158Ile Polymorphism rs3931036 -
COG4 Q9H9E3 VAR_063767 p.Arg729Trp Disease - Congenital disorder of glycosylation type 2J (CDG2J) [MIM:613489]
COG5 Q9UP83 VAR_039142 p.Phe330Leu Polymorphism rs2269970 -
COG5 Q9UP83 VAR_039143 p.Ser558Pro Polymorphism - -
COG5 Q9UP83 VAR_039182 p.Ile365Val Polymorphism rs34087251 -
COG5 Q9UP83 VAR_055664 p.His452Arg Polymorphism rs35393416 -
COG6 Q9Y2V7 VAR_048759 p.Ala10Thr Polymorphism rs3812882 -
COG6 Q9Y2V7 VAR_048760 p.Cys32Ser Polymorphism rs3812883 -
COG6 Q9Y2V7 VAR_048761 p.His300Tyr Polymorphism rs34555836 -
COG6 Q9Y2V7 VAR_061110 p.Met447Thr Polymorphism rs41286961 -
COG7 P83436 VAR_048762 p.Thr605Met Polymorphism rs16940094 -
COG8 Q96MW5 VAR_047655 p.Leu517Arg Polymorphism rs3027 -
COL10A1 Q03692 VAR_001838 p.Gly18Glu Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_001839 p.Gly18Arg Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_001840 p.Gly545Arg Polymorphism rs2228547 -
COL10A1 Q03692 VAR_001841 p.Cys591Arg Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_001842 p.Gly595Glu Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_001843 p.Tyr597His Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_001844 p.Tyr598Asp Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_001845 p.Ser600Pro Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_001846 p.Leu614Pro Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_001847 p.Asn617Lys Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_001848 p.Gly618Val Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_001849 p.Leu644Arg Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_001850 p.Asp648Gly Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_008039 p.Tyr597Cys Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_023186 p.Met27Thr Polymorphism rs1064583 -
COL10A1 Q03692 VAR_023187 p.Arg198His Polymorphism - -
COL10A1 Q03692 VAR_023188 p.Tyr582Asp Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_023189 p.Gly595Arg Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_023190 p.Val603Met Polymorphism - -
COL10A1 Q03692 VAR_023191 p.Trp651Arg Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_023192 p.Gln653Pro Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_023193 p.Ser671Pro Disease - Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
COL10A1 Q03692 VAR_048767 p.Gly98Arg Polymorphism rs2243370 -
COL11A1 P12107 VAR_013583 p.Gly625Val Disease - Stickler syndrome type 2 (STL2) [MIM:604841]
COL11A1 P12107 VAR_013584 p.Gly676Arg Disease - Stickler syndrome type 2 (STL2) [MIM:604841]
COL11A1 P12107 VAR_013587 p.Gly1516Val Disease - Stickler syndrome type 2 (STL2) [MIM:604841]
COL11A1 P12107 VAR_035743 p.Ala1326Val Unclassified - A breast cancer sample
COL11A1 P12107 VAR_035744 p.Gln1328Lys Unclassified - A breast cancer sample
COL11A1 P12107 VAR_035745 p.Gln1328Leu Unclassified - A breast cancer sample
COL11A1 P12107 VAR_047723 p.Trp8Gly Polymorphism rs12025888 -
COL11A1 P12107 VAR_047724 p.Asp46Glu Polymorphism rs11164663 -
COL11A1 P12107 VAR_047725 p.Gly559Ser Polymorphism rs12143815 -
COL11A1 P12107 VAR_047726 p.Pro1323Leu Polymorphism rs3753841 -
COL11A1 P12107 VAR_047727 p.Ser1535Pro Polymorphism rs1676486 -
COL11A1 P12107 VAR_047728 p.Leu1805Phe Polymorphism rs1975916 -
COL11A1 P12107 VAR_063675 p.Gly565Val Disease - Stickler syndrome type 2 (STL2) [MIM:604841]
COL11A1 P12107 VAR_063676 p.Gly1027Arg Disease - Stickler syndrome type 2 (STL2) [MIM:604841]
COL11A1 P12107 VAR_063678 p.Gly1513Asp Disease - Stickler syndrome type 2 (STL2) [MIM:604841]
COL11A1 P12107 VAR_065904 p.Gly796Arg Disease - Fibrochondrogenesis (FCG) [MIM:228520]
COL11A1 P12107 VAR_065905 p.Gly1042Arg Disease - Fibrochondrogenesis (FCG) [MIM:228520]
COL11A2 P13942 VAR_001907 p.Gly661Arg Disease - Autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED) [MIM:215150]
COL11A2 P13942 VAR_010655 p.Gly808Glu Disease - Deafness autosomal dominant type 13 (DFNA13) [MIM:601868]
COL11A2 P13942 VAR_010656 p.Arg1034Cys Disease - Deafness autosomal dominant type 13 (DFNA13) [MIM:601868]
COL11A2 P13942 VAR_013591 p.Asp593Gly Polymorphism - -
COL11A2 P13942 VAR_013592 p.Glu824Lys Polymorphism rs1799909 -
COL11A2 P13942 VAR_013593 p.Pro879Leu Polymorphism - -
COL11A2 P13942 VAR_013595 p.Gly1441Glu Disease - Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610]
COL11A2 P13942 VAR_013596 p.Pro1316Thr Polymorphism rs2229784 -
COL11A2 P13942 VAR_013597 p.Arg1600Gln Polymorphism rs1799912 -
COL11A2 P13942 VAR_025276 p.Pro621Thr Disease - Deafness autosomal recessive type 53 (DFNB53) [MIM:609706]
COL11A2 P13942 VAR_033797 p.Glu1628Asp Polymorphism rs2229790 -
COL11A2 P13942 VAR_048804 p.Pro236Ser Polymorphism rs35116188 -
COL11A2 P13942 VAR_048805 p.Glu276Lys Polymorphism rs9277934 -
COL11A2 P13942 VAR_048806 p.Leu894Pro Polymorphism rs2855430 -
COL11A2 P13942 VAR_048807 p.Pro1722Leu Polymorphism rs2229792 -
COL12A1 Q99715 VAR_032059 p.Gly3058Ser Polymorphism rs970547 -
COL12A1 Q99715 VAR_048768 p.Ala461Pro Polymorphism rs34730529 -
COL12A1 Q99715 VAR_048769 p.Ile1738Thr Polymorphism rs240736 -
COL12A1 Q99715 VAR_048770 p.Glu2160Val Polymorphism rs35523808 -
COL12A1 Q99715 VAR_048771 p.Ile2596Val Polymorphism rs35710072 -
COL12A1 Q99715 VAR_061111 p.Arg2021Gln Polymorphism rs34438461 -
COL12A1 Q99715 VAR_061112 p.Gln3048His Polymorphism rs57396313 -
COL13A1 Q5TAT6 VAR_055670 p.His531Gln Polymorphism rs1061954 -
COL14A1 Q05707 VAR_048772 p.Asn563His Polymorphism rs4870723 -
COL14A1 Q05707 VAR_048773 p.Pro855Leu Polymorphism rs2305606 -
COL14A1 Q05707 VAR_048774 p.Val922Ile Polymorphism rs11774228 -
COL14A1 Q05707 VAR_048775 p.Val1342Leu Polymorphism rs17833992 -
COL14A1 Q05707 VAR_061113 p.Thr636Ala Polymorphism rs56815167 -
COL15A1 P39059 VAR_033787 p.Arg163His Polymorphism rs2075662 -
COL15A1 P39059 VAR_033788 p.Met204Val Polymorphism rs2075663 -
COL15A1 P39059 VAR_033789 p.Thr391Met Polymorphism rs10988532 -
COL15A1 P39059 VAR_033790 p.Ala442Thr Polymorphism rs16918128 -
COL15A1 P39059 VAR_033791 p.Gly446Arg Polymorphism rs35934703 -
COL15A1 P39059 VAR_033792 p.Glu506Asp Polymorphism rs35250850 -
COL15A1 P39059 VAR_033793 p.Pro531Arg Polymorphism rs35529307 -
COL15A1 P39059 VAR_033794 p.Lys989Arg Polymorphism rs35642150 -
COL15A1 P39059 VAR_033795 p.Lys1001Arg Polymorphism rs35544077 -
COL15A1 P39059 VAR_033796 p.Val1332Ile Polymorphism rs10519 -
COL15A1 P39059 VAR_048776 p.Gly504Val Polymorphism rs2297603 -
COL15A1 P39059 VAR_061114 p.Pro705Leu Polymorphism rs41308900 -
COL16A1 Q07092 VAR_031440 p.Thr62Lys Polymorphism rs2228552 -
COL16A1 Q07092 VAR_048777 p.Gln27His Polymorphism rs2229802 -
COL16A1 Q07092 VAR_048778 p.Arg418Gln Polymorphism rs6699645 -
COL16A1 Q07092 VAR_048779 p.Gly745Ser Polymorphism rs34770879 -
COL16A1 Q07092 VAR_048780 p.Pro909Leu Polymorphism rs2229804 -
COL17A1 Q9UMD9 VAR_017593 p.Thr210Met Polymorphism rs805708 -
COL17A1 Q9UMD9 VAR_017594 p.Met231Ile Polymorphism rs1054113 -
COL17A1 Q9UMD9 VAR_017595 p.Met238Thr Polymorphism - -
COL17A1 Q9UMD9 VAR_017596 p.Ser265Cys Disease - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
COL17A1 Q9UMD9 VAR_017597 p.Gly428Ser Polymorphism rs805698 -
COL17A1 Q9UMD9 VAR_017598 p.Gly627Val Disease - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
COL17A1 Q9UMD9 VAR_017599 p.Gly633Asp Disease - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
COL17A1 Q9UMD9 VAR_017600 p.Met703Val Polymorphism rs805722 -
COL17A1 Q9UMD9 VAR_017601 p.Arg1303Gln Disease - Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
COL17A1 Q9UMD9 VAR_017602 p.Asp1370Gly Polymorphism rs17116350 -
COL17A1 Q9UMD9 VAR_048781 p.Thr4Ala Polymorphism rs17116471 -
COL18A1 P39060 VAR_012709 p.Asp1675Asn Unclassified - -
COL18A1 P39060 VAR_018053 p.Gln49Leu Polymorphism - -
COL18A1 P39060 VAR_018054 p.Gly111Arg Polymorphism - -
COL18A1 P39060 VAR_018055 p.Val1076Ile Polymorphism - -
COL18A1 P39060 VAR_018056 p.Pro1121Arg Polymorphism - -
COL18A1 P39060 VAR_059232 p.Ala288Thr Polymorphism rs11702494 -
COL18A1 P39060 VAR_059233 p.Gln1195His Polymorphism rs2230693 -
COL18A1 P39060 VAR_061115 p.Thr379Met Polymorphism rs8133886 -
COL19A1 Q14993 VAR_024419 p.Ala352Gly Polymorphism rs2273426 -
COL19A1 Q14993 VAR_035746 p.Gly361Asp Unclassified - A breast cancer sample
COL19A1 Q14993 VAR_035747 p.Lys1019Asn Unclassified - A breast cancer sample
COL19A1 Q14993 VAR_048782 p.Gly406Glu Polymorphism rs13204209 -
COL19A1 Q14993 VAR_048783 p.Glu496Gly Polymorphism rs13204209 -
COL1A1 P02452 VAR_001642 p.Gly197Cys Polymorphism rs8179178 -
COL1A1 P02452 VAR_001643 p.Pro205Ala Polymorphism - -
COL1A1 P02452 VAR_001644 p.Gly221Cys Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_001645 p.Gly224Cys Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_001646 p.Gly263Arg Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_001647 p.Gly263Val Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_001648 p.Gly272Cys Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_001649 p.Gly275Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001650 p.Gly332Arg Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001651 p.Gly350Arg Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001652 p.Gly353Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001653 p.Gly356Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001654 p.Gly383Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001655 p.Gly389Cys Unclassified - -
COL1A1 P02452 VAR_001656 p.Gly389Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001657 p.Gly398Ala Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001658 p.Gly398Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001659 p.Gly401Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001660 p.Gly404Cys Unclassified - -
COL1A1 P02452 VAR_001661 p.Gly422Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001662 p.Gly425Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001663 p.Gly434Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001664 p.Gly476Arg Disease rs57377812 Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001665 p.Gly527Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001666 p.Gly530Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001666 p.Gly530Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001666 p.Gly530Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001667 p.Gly533Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001668 p.Gly560Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001669 p.Gly560Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001670 p.Gly560Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001671 p.Arg564His Polymorphism rs1800211 -
COL1A1 P02452 VAR_001672 p.Gly569Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001673 p.Gly593Cys Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001673 p.Gly593Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001674 p.Gly593Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001674 p.Gly593Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001676 p.Gly656Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001677 p.Gly701Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001678 p.Gly704Cys Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001679 p.Gly719Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001680 p.Gly719Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001681 p.Gly728Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001682 p.Gly737Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001683 p.Gly743Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001684 p.Gly743Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001685 p.Gly764Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001686 p.Gly767Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001687 p.Gly776Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001688 p.Gly809Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001689 p.Gly815Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001690 p.Gly821Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001691 p.Pro823Ala Polymorphism rs1800214 -
COL1A1 P02452 VAR_001692 p.Gly839Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001693 p.Gly842Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001694 p.Gly845Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001695 p.Gly851Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001696 p.Gly869Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001697 p.Gly884Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001697 p.Gly884Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001698 p.Gly896Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001699 p.Gly926Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001700 p.Gly980Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001701 p.Gly1010Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001702 p.Gly1022Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001703 p.Gly1022Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001704 p.Gly1025Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001705 p.Gly1040Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001705 p.Gly1040Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001706 p.Gly1043Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001708 p.Gly1049Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001709 p.Gly1058Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001709 p.Gly1058Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001710 p.Gly1061Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001711 p.Gly1061Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_001712 p.Thr1075Ala Polymorphism rs1800215 -
COL1A1 P02452 VAR_001713 p.Gly1076Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001714 p.Gly1079Ser Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_001714 p.Gly1079Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001715 p.Gly1082Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001716 p.Gly1088Ala Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001717 p.Gly1091Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001718 p.Gly1100Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001719 p.Gly1106Ala Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001720 p.Gly1124Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001721 p.Gly1142Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001722 p.Gly1151Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001723 p.Gly1151Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001724 p.Gly1154Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001725 p.Gly1166Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001726 p.Gly1172Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001727 p.Gly1181Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001728 p.Gly1184Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001729 p.Gly1187Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001729 p.Gly1187Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_001730 p.Gly1187Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001731 p.Gly1195Cys Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_001732 p.Asp1277His Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001733 p.Trp1312Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001735 p.Leu1388Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_001736 p.Thr1434Ser Polymorphism rs1800220 -
COL1A1 P02452 VAR_001737 p.Leu1464Pro Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_008118 p.Gly866Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_008118 p.Gly866Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_013579 p.Arg312Cys Disease - Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
COL1A1 P02452 VAR_030013 p.Gly1019Ala Polymorphism rs1135348 -
COL1A1 P02452 VAR_030014 p.Ser1251Thr Polymorphism rs3205325 -
COL1A1 P02452 VAR_030015 p.Gln1391Lys Polymorphism rs2586486 -
COL1A1 P02452 VAR_030016 p.Pro1438Arg Polymorphism rs17857117 -
COL1A1 P02452 VAR_030017 p.Pro1460His Polymorphism rs17853657 -
COL1A1 P02452 VAR_033097 p.Arg1014Cys Disease - Caffey disease (CAFFD) [MIM:114000]
COL1A1 P02452 VAR_033778 p.Arg1141Gln Polymorphism rs41316713 -
COL1A1 P02452 VAR_033779 p.Val1177Ile Polymorphism rs41316719 -
COL1A1 P02452 VAR_033780 p.Lys1430Asn Polymorphism rs1059454 -
COL1A1 P02452 VAR_033781 p.Thr1431Pro Polymorphism rs1059454 -
COL1A1 P02452 VAR_063290 p.Gly22Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063291 p.Pro146Thr Unclassified - -
COL1A1 P02452 VAR_063292 p.Gly194Arg Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_063293 p.Gly197Arg Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_063294 p.Gly200Val Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_063295 p.Gly203Val Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A1 P02452 VAR_063296 p.Gly242Asp Unclassified - -
COL1A1 P02452 VAR_063297 p.Gly257Arg Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_063298 p.Gly266Glu Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_063299 p.Gly287Ser Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_063300 p.Glu288Lys Unclassified - -
COL1A1 P02452 VAR_063301 p.Glu288Val Unclassified - -
COL1A1 P02452 VAR_063302 p.Gly320Val Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_063303 p.Gly338Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_063304 p.Val349Phe Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_063305 p.Gly353Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063306 p.Gly353Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_063307 p.Gly368Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063308 p.Ala390Thr Unclassified - -
COL1A1 P02452 VAR_063309 p.Gly455Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063310 p.Gly470Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063311 p.Gly509Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063312 p.Gly548Ala Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063313 p.Pro555Arg Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_063314 p.Arg574Cys Unclassified - -
COL1A1 P02452 VAR_063315 p.Gly581Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063316 p.Gly602Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063317 p.Gly605Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063318 p.Gly614Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063319 p.Gly647Ser Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_063320 p.Gly683Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A1 P02452 VAR_063321 p.Gly722Ser Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_063322 p.Gly734Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063323 p.Gly740Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063324 p.Gly824Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063325 p.Gly833Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063326 p.Asn855His Unclassified - -
COL1A1 P02452 VAR_063327 p.Gly875Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063328 p.Gly896Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063329 p.Gly906Ser Unclassified - -
COL1A1 P02452 VAR_063330 p.Gly947Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063331 p.Gly977Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063332 p.Gly1001Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063334 p.Gly1055Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063335 p.Arg1066Cys Unclassified - -
COL1A1 P02452 VAR_063336 p.Arg1093Cys Unclassified - -
COL1A1 P02452 VAR_063337 p.Gly1094Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063338 p.Gly1157Asp Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_063339 p.Asp1219Glu Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A1 P02452 VAR_063340 p.Arg1356His Polymorphism - -
COL1A1 P02452 VAR_063341 p.Asp1413Asn Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_063342 p.Gly848Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A1 P02452 VAR_066385 p.Asp1219Asn Unclassified - -
COL1A2 P08123 VAR_001852 p.Gly211Asp Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A2 P08123 VAR_001853 p.Ile249Asn Polymorphism rs1800228 -
COL1A2 P08123 VAR_001854 p.Ala276Thr Polymorphism rs1800231 -
COL1A2 P08123 VAR_001855 p.Gly328Ser Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A2 P08123 VAR_001856 p.Gly334Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001857 p.Gly337Cys Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_001858 p.Gly337Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_001860 p.Gly349Cys Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_001861 p.Gly409Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001862 p.Gly433Glu Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001863 p.Gly460Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_001864 p.Gly511Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001865 p.Gly517Arg Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_001866 p.Gly547Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001867 p.Pro549Ala Polymorphism rs42524 -
COL1A2 P08123 VAR_001868 p.Gly562Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001869 p.Gly586Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001870 p.Gly592Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001871 p.Gly634Val Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A2 P08123 VAR_001872 p.Gly637Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001873 p.Gly640Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001874 p.Gly670Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001875 p.Gly676Val Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_001875 p.Gly676Val Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A2 P08123 VAR_001876 p.Arg708Gln Unclassified - -
COL1A2 P08123 VAR_001877 p.Gly715Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001878 p.Gly730Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001879 p.Gly736Cys Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A2 P08123 VAR_001880 p.Ala743Gly Polymorphism rs408535 -
COL1A2 P08123 VAR_001881 p.Gly751Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A2 P08123 VAR_001882 p.Gly754Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001883 p.Gly766Val Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A2 P08123 VAR_001884 p.Gly778Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_001885 p.Gly784Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001886 p.Gly787Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001887 p.Gly790Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001888 p.Gly796Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001889 p.Arg822His Polymorphism rs1800240 -
COL1A2 P08123 VAR_001890 p.Gly835Ser Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A2 P08123 VAR_001891 p.Gly877Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001892 p.Gly892Asp Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_001892 p.Gly892Asp Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A2 P08123 VAR_001893 p.Gly895Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001894 p.Gly949Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_001895 p.Gly955Ser Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001896 p.Gly997Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001897 p.Gly1012Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_001897 p.Gly1012Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A2 P08123 VAR_001898 p.Leu1022Phe Polymorphism rs392609 -
COL1A2 P08123 VAR_001899 p.Gly1066Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001900 p.Gly1078Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_001901 p.Gly1096Ala Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_001902 p.Gly1102Arg Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A2 P08123 VAR_001903 p.Pro1101Leu Polymorphism - -
COL1A2 P08123 VAR_001904 p.Thr1148Pro Disease rs1800250 Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_001905 p.Asp1189Glu Polymorphism rs422361 -
COL1A2 P08123 VAR_001906 p.Ser1198Pro Polymorphism rs384487 -
COL1A2 P08123 VAR_008119 p.Gly331Asp Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_008120 p.Gly973Val Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_030116 p.Thr59Pro Polymorphism rs1800221 -
COL1A2 P08123 VAR_030118 p.Val270Ile Polymorphism rs368468 -
COL1A2 P08123 VAR_030119 p.Ala483Val Polymorphism rs414408 -
COL1A2 P08123 VAR_030121 p.Pro678His Polymorphism rs409108 -
COL1A2 P08123 VAR_030122 p.Gln1354His Polymorphism rs418570 -
COL1A2 P08123 VAR_033040 p.Asn528Ser Polymorphism rs41317144 -
COL1A2 P08123 VAR_033041 p.Ala564Thr Polymorphism rs41317153 -
COL1A2 P08123 VAR_055677 p.Leu344Val Polymorphism rs16868573 -
COL1A2 P08123 VAR_063343 p.Gly193Ser Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A2 P08123 VAR_063344 p.Gly202Arg Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A2 P08123 VAR_063345 p.Arg234Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063346 p.Gly247Arg Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A2 P08123 VAR_063347 p.Gly253Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063348 p.Gly256Val Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A2 P08123 VAR_063349 p.Gly283Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063350 p.Gly319Arg Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A2 P08123 VAR_063351 p.Gly325Glu Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A2 P08123 VAR_063352 p.Gly358Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_063353 p.Gly397Glu Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063354 p.Gly454Cys Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063355 p.Gly457Leu Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063357 p.Gly526Glu Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063358 p.Gly562Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063359 p.Gly601Ser Unclassified - -
COL1A2 P08123 VAR_063360 p.Gly625Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063361 p.Gly676Asp Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_063363 p.Gly733Cys Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A2 P08123 VAR_063364 p.Gly739Arg Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063365 p.Gly748Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063366 p.Gly754Cys Disease - Osteogenesis imperfecta type 4 (OI4) [MIM:166220]
COL1A2 P08123 VAR_063370 p.Gly820Ser Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_063371 p.Gly835Cys Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_063372 p.Gly856Arg Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_063373 p.Gly856Val Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063374 p.Gly955Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063375 p.Gly982Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063377 p.Gly991Val Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_063378 p.Gly1003Asp Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063379 p.Gly1027Glu Disease - Osteogenesis imperfecta type 2 (OI2) [MIM:166210]
COL1A2 P08123 VAR_063381 p.Gly1087Asp Disease - Osteogenesis imperfecta type 3 (OI3) [MIM:259420]
COL1A2 P08123 VAR_063383 p.Cys1195Tyr Disease - Osteogenesis imperfecta type 1 (OI1) [MIM:166200]
COL1A2 P08123 VAR_066386 p.Ala1119Thr Unclassified - -
COL20A1 Q9P218 VAR_055671 p.Pro134Leu Polymorphism rs753686 -
COL21A1 Q96P44 VAR_038555 p.Leu277Pro Polymorphism rs2764043 -
COL21A1 Q96P44 VAR_038556 p.Thr343Met Polymorphism rs35471617 -
COL21A1 Q96P44 VAR_038557 p.Ile495Thr Polymorphism rs35583895 -
COL21A1 Q96P44 VAR_038558 p.Gly560Ser Polymorphism rs9382581 -
COL21A1 Q96P44 VAR_038559 p.Ala747Asp Polymorphism rs9464337 -
COL21A1 Q96P44 VAR_038560 p.Leu821Pro Polymorphism rs12209452 -
COL21A1 Q96P44 VAR_038561 p.Pro827Ala Polymorphism rs1555131 -
COL22A1 Q8NFW1 VAR_038562 p.Ser320Gly Polymorphism rs2292927 -
COL22A1 Q8NFW1 VAR_038563 p.Pro703Thr Polymorphism rs10111520 -
COL22A1 Q8NFW1 VAR_038564 p.Ala938Asp Polymorphism rs4909444 -
COL23A1 Q86Y22 VAR_026964 p.Thr287Ala Polymorphism rs890802 -
COL24A1 Q17RW2 VAR_038565 p.Gly1423Arg Polymorphism rs7520146 -
COL24A1 Q17RW2 VAR_055672 p.Pro151Leu Polymorphism rs1027819 -
COL24A1 Q17RW2 VAR_055673 p.Ile293Thr Polymorphism rs17128866 -
COL24A1 Q17RW2 VAR_055674 p.Met481Leu Polymorphism rs10493784 -
COL24A1 Q17RW2 VAR_055675 p.Pro546Ser Polymorphism rs11161732 -
COL24A1 Q17RW2 VAR_055676 p.Pro731Ser Polymorphism rs641712 -
COL24A1 Q17RW2 VAR_061116 p.Arg641His Polymorphism rs60891279 -
COL24A1 Q17RW2 VAR_062865 p.Ala61Val Polymorphism rs11161747 -
COL27A1 Q8IZC6 VAR_048784 p.Val89Ile Polymorphism rs2567707 -
COL27A1 Q8IZC6 VAR_048785 p.Gln120Arg Polymorphism rs2567706 -
COL27A1 Q8IZC6 VAR_048786 p.Ala265Thr Polymorphism rs34578955 -
COL27A1 Q8IZC6 VAR_048787 p.Arg349Cys Polymorphism rs34973417 -
COL27A1 Q8IZC6 VAR_048788 p.Ala422Thr Polymorphism rs2241671 -
COL27A1 Q8IZC6 VAR_048789 p.Ile537Thr Polymorphism rs2808770 -
COL27A1 Q8IZC6 VAR_048790 p.Ile611Phe Polymorphism rs2567705 -
COL27A1 Q8IZC6 VAR_048791 p.Pro720Arg Polymorphism rs35446342 -
COL27A1 Q8IZC6 VAR_048792 p.Pro1116Gln Polymorphism rs7048607 -
COL27A1 Q8IZC6 VAR_048793 p.Arg1348Gln Polymorphism rs1631319 -
COL27A1 Q8IZC6 VAR_048794 p.Arg1354Gln Polymorphism rs10982134 -
COL27A1 Q8IZC6 VAR_048795 p.Met1808Val Polymorphism rs3736252 -
COL28A1 Q2UY09 VAR_038566 p.Ala189Gly Polymorphism rs7804532 -
COL28A1 Q2UY09 VAR_038567 p.Ile239Val Polymorphism rs10486180 -
COL28A1 Q2UY09 VAR_038568 p.Thr327Ser Polymorphism rs10486176 -
COL28A1 Q2UY09 VAR_038569 p.Glu433Asp Polymorphism rs6952195 -
COL28A1 Q2UY09 VAR_038570 p.Ala472Pro Polymorphism rs17167927 -
COL28A1 Q2UY09 VAR_038571 p.Arg741Gln Polymorphism rs17167102 -
COL28A1 Q2UY09 VAR_061117 p.Ile437Met Polymorphism rs55745506 -
COL2A1 P02458 VAR_001738 p.Gly267Asp Disease - Stickler syndrome type 1 non-syndromic ocular (STL1O) [MIM:609508]
COL2A1 P02458 VAR_001739 p.Arg275Cys Disease - Czech dysplasia (CZECHD) [MIM:609162]
COL2A1 P02458 VAR_001741 p.Gly303Asp Disease - Kniest dysplasia (KD) [MIM:156550]
COL2A1 P02458 VAR_001742 p.Gly354Arg Unclassified - -
COL2A1 P02458 VAR_001743 p.Gly375Arg Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
COL2A1 P02458 VAR_001744 p.Gly447Ser Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
COL2A1 P02458 VAR_001745 p.Gly492Val Disease - Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]
COL2A1 P02458 VAR_001746 p.Gly504Cys Disease - Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]
COL2A1 P02458 VAR_001747 p.Gly510Asp Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_001748 p.Arg719Cys Disease - Osteoarthritis with mild chondrodysplasia (OACD) [MIM:604864]
COL2A1 P02458 VAR_001749 p.Gly774Ser Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
COL2A1 P02458 VAR_001751 p.Gly804Ala Unclassified - -
COL2A1 P02458 VAR_001752 p.Gly891Arg Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_001752 p.Gly891Arg Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
COL2A1 P02458 VAR_001753 p.Gly909Cys Disease - Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]
COL2A1 P02458 VAR_001754 p.Gly969Ser Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_001755 p.Arg989Cys Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
COL2A1 P02458 VAR_001756 p.Gly1005Ser Unclassified - -
COL2A1 P02458 VAR_001757 p.Gly1017Val Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_001758 p.Gly1053Glu Unclassified - -
COL2A1 P02458 VAR_001759 p.Gly1110Cys Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_001760 p.Gly1113Cys Unclassified - -
COL2A1 P02458 VAR_001761 p.Gly1143Ser Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_001763 p.Gly1176Ser Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
COL2A1 P02458 VAR_001764 p.Gly1188Arg Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_001765 p.Gly1197Ser Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
COL2A1 P02458 VAR_017105 p.Thr1439Met Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
COL2A1 P02458 VAR_017638 p.Thr9Ser Polymorphism rs3803183 -
COL2A1 P02458 VAR_017639 p.Gly453Asp Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_017640 p.Gly453Val Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_017641 p.Gly771Asp Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_017642 p.Gly780Arg Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_017643 p.Gly795Arg Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_017644 p.Gly894Glu Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_017645 p.Arg904Cys Disease - Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]
COL2A1 P02458 VAR_017645 p.Arg904Cys Disease - Stickler syndrome type 1 (STL1) [MIM:108300]
COL2A1 P02458 VAR_017646 p.Gly948Asp Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_017647 p.Gly981Ser Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_017649 p.Gly1065Val Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_017650 p.Gly1119Arg Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_017651 p.Gly1173Arg Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
COL2A1 P02458 VAR_017652 p.Val1331Ile Polymorphism rs12721427 -
COL2A1 P02458 VAR_019836 p.Pro158Leu Polymorphism rs1050861 -
COL2A1 P02458 VAR_023925 p.Gly318Arg Disease - Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]
COL2A1 P02458 VAR_023926 p.Gly516Asp Unclassified - -
COL2A1 P02458 VAR_023927 p.Arg565Cys Disease - Stickler syndrome type 1 (STL1) [MIM:108300]
COL2A1 P02458 VAR_023928 p.Leu667Phe Disease - Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]
COL2A1 P02458 VAR_023929 p.Gly717Ser Disease - Primary avascular necrosis of femoral head (ANFH) [MIM:608805]
COL2A1 P02458 VAR_023930 p.Gly855Ser Disease - Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]
COL2A1 P02458 VAR_023931 p.Gly897Val Disease - Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]
COL2A1 P02458 VAR_023932 p.Arg992Gly Disease - Spondyloepimetaphyseal dysplasia Strudwick type (SEMD-STR) [MIM:184250]
COL2A1 P02458 VAR_023933 p.Gly1170Ser Disease - Primary avascular necrosis of femoral head (ANFH) [MIM:608805]
COL2A1 P02458 VAR_023934 p.Gly1305Asp Unclassified - -
COL2A1 P02458 VAR_023935 p.Tyr1391Cys Disease - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
COL2A1 P02458 VAR_024819 p.Gly513Ser Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_024820 p.Gly717Val Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_024821 p.Gly771Ala Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_024822 p.Thr1390Asn Disease - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
COL2A1 P02458 VAR_024823 p.Thr1448Pro Disease - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
COL2A1 P02458 VAR_024824 p.Asp1469His Disease - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
COL2A1 P02458 VAR_024826 p.Cys1485Gly Disease - Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]
COL2A1 P02458 VAR_033782 p.Glu142Asp Polymorphism rs34392760 -
COL2A1 P02458 VAR_033783 p.Thr638Ile Polymorphism rs41263847 -
COL2A1 P02458 VAR_033784 p.Ala1051Thr Polymorphism rs41272041 -
COL2A1 P02458 VAR_033785 p.Gly1405Ser Polymorphism rs2070739 -
COL2A1 P02458 VAR_063891 p.Cys57Tyr Disease - Stickler syndrome type 1 non-syndromic ocular (STL1O) [MIM:609508]
COL2A1 P02458 VAR_063892 p.Gly240Asp Disease - Stickler syndrome type 1 (STL1) [MIM:108300]
COL2A1 P02458 VAR_063893 p.Gly270Arg Disease - Stickler syndrome type 1 (STL1) [MIM:108300]
COL2A1 P02458 VAR_063894 p.Gly282Asp Disease - Stickler syndrome type 1 (STL1) [MIM:108300]
COL2A1 P02458 VAR_063895 p.Gly453Ala Disease - Stickler syndrome type 1 (STL1) [MIM:108300]
COL2A1 P02458 VAR_063896 p.Gly501Arg Disease - Stickler syndrome type 1 (STL1) [MIM:108300]
COL2A1 P02458 VAR_063897 p.Asp547Val Disease - Achondrogenesis type 2 (ACG2) [MIM:200610]
COL2A1 P02458 VAR_063898 p.Gly1158Ala Disease - Stickler syndrome type 1 (STL1) [MIM:108300]
COL2A1 P02458 VAR_066836 p.Gly1176Val Unclassified - -
COL2A1 P02458 VAR_066837 p.Gly1179Arg Unclassified - -
COL3A1 P02461 VAR_001767 p.Leu169Phe Disease - Aortic aneurysm abdominal (AAA) [MIM:100070]
COL3A1 P02461 VAR_001768 p.Gly183Cys Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001769 p.Gly201Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001770 p.Gly228Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001771 p.Gly303Arg Unclassified - -
COL3A1 P02461 VAR_001772 p.Gly540Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001773 p.Gly567Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001774 p.Gly582Ser Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001775 p.Pro602Thr Polymorphism rs35795890 -
COL3A1 P02461 VAR_001776 p.Pro635Leu Polymorphism - -
COL3A1 P02461 VAR_001777 p.Gly666Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001778 p.Ala698Thr Polymorphism rs1800255 -
COL3A1 P02461 VAR_001779 p.Gly726Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001780 p.Gly756Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001781 p.Gly762Cys Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001782 p.Gly786Arg Disease - Aortic aneurysm abdominal (AAA) [MIM:100070]
COL3A1 P02461 VAR_001783 p.Gly804Ser Disease - Ehlers-Danlos syndrome type 3 (EDS3) [MIM:130020]
COL3A1 P02461 VAR_001784 p.Gly828Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001785 p.Gly909Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001786 p.Gly936Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001787 p.Gly936Ser Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001788 p.Gly939Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001789 p.Gly957Ser Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001790 p.Gly960Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001791 p.Gly996Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001792 p.Gly1014Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001793 p.Gly1050Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001794 p.Gly1071Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001795 p.Gly1077Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001796 p.Gly1101Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001797 p.Gly1104Ala Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001798 p.Gly1164Ser Unclassified - -
COL3A1 P02461 VAR_001799 p.Gly1167Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001800 p.Gly1170Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001801 p.Gly1173Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001802 p.Gly1176Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001803 p.Gly1182Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001804 p.Gly1185Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001805 p.Gly1185Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001806 p.Gly1188Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_001807 p.Gly1188Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011095 p.Gly183Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011096 p.Gly183Ser Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011097 p.Gly192Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011098 p.Gly204Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011099 p.Gly204Ser Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011100 p.Gly210Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011101 p.Gly219Cys Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011102 p.Gly225Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011103 p.Gly240Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011104 p.Gly243Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011105 p.Gly249Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011106 p.Gly249Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011107 p.Gly252Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011108 p.Gly252Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011109 p.Gly252Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011110 p.Gly255Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011111 p.Gly264Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011112 p.Gly267Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011113 p.Gly321Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011114 p.Gly327Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011115 p.Gly345Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011116 p.Gly417Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011117 p.Gly444Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011118 p.Gly489Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011119 p.Gly501Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011120 p.Gly519Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011121 p.Gly549Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011122 p.Gly552Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011123 p.Gly588Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011124 p.Gly636Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011125 p.Gly657Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011126 p.Gly660Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011127 p.Pro668Thr Polymorphism rs1801183 -
COL3A1 P02461 VAR_011128 p.Gly699Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011129 p.Gly738Ser Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011130 p.Gly738Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011131 p.Gly744Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011132 p.Gly828Trp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011133 p.Gly852Cys Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011134 p.Gly879Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011135 p.Gly882Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011136 p.Gly900Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011137 p.Gly903Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011138 p.Gly909Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011139 p.Gly918Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011140 p.Gly924Cys Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011141 p.Gly942Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011142 p.Gly966Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011143 p.Gly972Ala Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011144 p.Gly984Thr Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011145 p.Gly999Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011146 p.Gly1011Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011147 p.Gly1032Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011148 p.Gly1035Cys Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011149 p.Gly1044Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011150 p.Gly1050Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011151 p.Gly1089Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011152 p.Gly1098Asp Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011153 p.Gly1098Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011154 p.Gly1161Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011155 p.Gly1164Glu Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011156 p.Gly1164Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011157 p.Gly1170Val Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011158 p.Gly1173Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_011159 p.Gly1179Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_020012 p.Ile1205Val Polymorphism rs2271683 -
COL3A1 P02461 VAR_030115 p.His1353Gln Polymorphism rs1516446 -
COL3A1 P02461 VAR_035738 p.Gly420Ser Unclassified - A colorectal cancer sample
COL3A1 P02461 VAR_035739 p.Arg1434Cys Unclassified - A colorectal cancer sample
COL3A1 P02461 VAR_037007 p.Gly297Arg Disease - Ehlers-Danlos syndrome type 4 (EDS4) [MIM:130050]
COL3A1 P02461 VAR_055665 p.Gly534Glu Polymorphism rs41263744 -
COL3A1 P02461 VAR_055666 p.Ala679Thr Polymorphism rs41263773 -
COL3A1 P02461 VAR_055667 p.Pro686Ala Polymorphism rs41263775 -
COL4A1 P02462 VAR_020013 p.Gln1334His Polymorphism rs3742207 -
COL4A1 P02462 VAR_030027 p.Val7Leu Polymorphism rs9515185 -
COL4A1 P02462 VAR_030028 p.Gly562Glu Disease - Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]
COL4A1 P02462 VAR_030029 p.Gly749Ser Disease - Familial porencephaly (PCEPH) [MIM:175780]
COL4A1 P02462 VAR_030030 p.Gly1130Asp Disease - Familial porencephaly (PCEPH) [MIM:175780]
COL4A1 P02462 VAR_030031 p.Gly1236Arg Disease - Familial porencephaly (PCEPH) [MIM:175780]
COL4A1 P02462 VAR_030032 p.Gly1423Arg Disease - Familial porencephaly (PCEPH) [MIM:175780]
COL4A1 P02462 VAR_030511 p.Thr555Pro Polymorphism rs536174 -
COL4A1 P02462 VAR_044158 p.Pro304Leu Polymorphism rs34843786 -
COL4A1 P02462 VAR_044159 p.Gly498Val Disease - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
COL4A1 P02462 VAR_044160 p.Gly519Arg Disease - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
COL4A1 P02462 VAR_044161 p.Gly528Glu Disease - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
COL4A1 P02462 VAR_064493 p.Gly498Arg Disease - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
COL4A1 P02462 VAR_064494 p.Gly510Arg Disease - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
COL4A1 P02462 VAR_064495 p.Gly525Leu Disease - Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]
COL4A1 P02462 VAR_064496 p.Gly720Asp Disease - Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]
COL4A1 P02462 VAR_064497 p.Gly755Arg Disease - Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]
COL4A1 P02462 VAR_064498 p.Gly805Arg Disease - Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]
COL4A1 P02462 VAR_064499 p.Gly1580Arg Disease - Familial porencephaly (PCEPH) [MIM:175780]
COL4A2 P08572 VAR_048796 p.Arg517Lys Polymorphism rs7990383 -
COL4A2 P08572 VAR_048797 p.Gly683Ala Polymorphism rs3803230 -
COL4A2 P08572 VAR_048798 p.Pro718Ser Polymorphism rs9583500 -
COL4A3 Q01955 VAR_001908 p.Leu1474Pro Polymorphism - -
COL4A3 Q01955 VAR_001909 p.Gln1495Arg Polymorphism - -
COL4A3 Q01955 VAR_011202 p.Gly43Arg Polymorphism rs13424243 -
COL4A3 Q01955 VAR_011203 p.Glu162Gly Polymorphism rs6436669 -
COL4A3 Q01955 VAR_011204 p.Gly297Glu Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_011205 p.Asp326Tyr Polymorphism rs55703767 -
COL4A3 Q01955 VAR_011206 p.Gly407Arg Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_011207 p.Arg408His Polymorphism rs34505188 -
COL4A3 Q01955 VAR_011208 p.His451Arg Polymorphism rs11677877 -
COL4A3 Q01955 VAR_011209 p.Pro574Leu Polymorphism rs28381984 -
COL4A3 Q01955 VAR_011210 p.Gly640Arg Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_011211 p.Gly1167Arg Disease - Alport syndrome autosomal dominant (APSAD) [MIM:104200]
COL4A3 Q01955 VAR_011212 p.Gly1207Glu Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_011213 p.Arg1215Gln Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_011214 p.Asp1269Glu Polymorphism rs57611801 -
COL4A3 Q01955 VAR_011215 p.Gly1277Ser Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_011216 p.Ile1330Thr Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_011217 p.Gly1334Glu Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_011218 p.Asp1347Glu Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_011219 p.Arg1661Cys Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_030944 p.Leu141Pro Polymorphism rs10178458 -
COL4A3 Q01955 VAR_030945 p.Gly532Asp Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_030946 p.Gly739Arg Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_030947 p.Gly853Arg Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_030948 p.Gly985Val Disease - Benign familial hematuria (BFH) [MIM:141200]
COL4A3 Q01955 VAR_030949 p.Gly1015Glu Disease - Benign familial hematuria (BFH) [MIM:141200]
COL4A3 Q01955 VAR_030950 p.Gly1216Arg Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A3 Q01955 VAR_061118 p.Lys834Arg Polymorphism rs56226424 -
COL4A3BP Q9Y5P4 VAR_035416 p.Gly67Glu Unclassified - -
COL4A3BP Q9Y5P4 VAR_061815 p.Lys599Arg Polymorphism rs55882089 -
COL4A4 P53420 VAR_001912 p.Gly897Glu Disease - Benign familial hematuria (BFH) [MIM:141200]
COL4A4 P53420 VAR_001913 p.Gly1201Ser Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A4 P53420 VAR_008149 p.Gly545Ala Polymorphism rs1800516 -
COL4A4 P53420 VAR_008150 p.Glu570Gln Polymorphism - -
COL4A4 P53420 VAR_008151 p.Ala931Thr Polymorphism - -
COL4A4 P53420 VAR_008152 p.Pro1004Leu Polymorphism rs1800517 -
COL4A4 P53420 VAR_008153 p.Gly1030Val Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A4 P53420 VAR_008154 p.Pro1402Ser Polymorphism - -
COL4A4 P53420 VAR_008155 p.Pro1572Leu Disease - Alport syndrome autosomal recessive (APSAR) [MIM:203780]
COL4A4 P53420 VAR_022069 p.Pro482Ser Polymorphism rs2229814 -
COL4A4 P53420 VAR_031622 p.Ile6Thr Polymorphism rs16823264 -
COL4A4 P53420 VAR_031623 p.Gly116Glu Disease - Benign familial hematuria (BFH) [MIM:141200]
COL4A4 P53420 VAR_031624 p.Gly960Arg Disease - Benign familial hematuria (BFH) [MIM:141200]
COL4A4 P53420 VAR_031625 p.Gly999Glu Disease rs13027659 Benign familial hematuria (BFH) [MIM:141200]
COL4A4 P53420 VAR_031626 p.Pro1132Leu Disease - Benign familial hematuria (BFH) [MIM:141200]
COL4A4 P53420 VAR_031627 p.Val1327Met Polymorphism rs2229813 -
COL4A4 P53420 VAR_031628 p.Ser1403Pro Polymorphism rs3752895 -
COL4A4 P53420 VAR_055680 p.Glu594Gly Polymorphism rs35998949 -
COL4A4 P53420 VAR_055681 p.Val670Ile Polymorphism rs34236495 -
COL4A4 P53420 VAR_055682 p.Pro759Leu Polymorphism rs36121515 -
COL4A5 P29400 VAR_001914 p.Gly54Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001915 p.Gly129Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001916 p.Gly129Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001917 p.Gly174Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001918 p.Gly177Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001919 p.Gly216Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001920 p.Gly219Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001921 p.Gly289Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001922 p.Gly292Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001923 p.Gly325Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001924 p.Gly325Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001925 p.Gly365Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001927 p.Gly371Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001928 p.Gly374Ala Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001929 p.Gly383Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001930 p.Gly400Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001931 p.Gly406Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001932 p.Gly409Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001933 p.Ala430Asp Polymorphism - -
COL4A5 P29400 VAR_001934 p.Ile444Ser Polymorphism rs2272946 -
COL4A5 P29400 VAR_001936 p.Gly466Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001937 p.Gly494Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001939 p.Gly521Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001940 p.Gly521Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001941 p.Gly567Ala Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001942 p.Gly609Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001943 p.Gly638Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001944 p.Gly638Ala Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001945 p.Gly653Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001946 p.Lys664Asn Polymorphism rs34077552 -
COL4A5 P29400 VAR_001947 p.Gly684Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001948 p.Gly740Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001949 p.Gly772Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001950 p.Gly796Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001951 p.Gly852Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001952 p.Gly866Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001953 p.Gly869Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001954 p.Gly872Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001956 p.Gly1104Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001957 p.Gly1143Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001958 p.Gly1143Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001959 p.Gly1182Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001960 p.Gly1241Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001961 p.Gly1270Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001962 p.Gly1379Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001963 p.Arg1410Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001964 p.Gly1421Trp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001965 p.Arg1422Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001966 p.Gly1451Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001967 p.Ala1498Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001968 p.Pro1517Thr Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001969 p.Trp1538Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001970 p.Arg1563Gln Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001971 p.Cys1564Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001972 p.Gly1596Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001973 p.Leu1649Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_001974 p.Arg1677Gln Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_007991 p.Gly114Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_007992 p.Gly331Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_007993 p.Gly472Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_007994 p.Gly545Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_007995 p.Gly545Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_007996 p.Gly561Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_007997 p.Gly579Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_007998 p.Gly635Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_007999 p.Gly638Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008000 p.Gly669Ala Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008001 p.Gly687Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008002 p.Gly743Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008003 p.Gly808Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008005 p.Gly852Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008006 p.Gly878Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008008 p.Gly1107Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008009 p.Gly1161Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008010 p.Gly1211Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008011 p.Gly1220Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008012 p.Gly1333Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008013 p.Gly1427Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008014 p.Gly1442Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008015 p.Gly1486Ala Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_008016 p.Pro1559Ala Polymorphism - -
COL4A5 P29400 VAR_011220 p.Gly177Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011221 p.Gly192Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011222 p.Gly204Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011223 p.Gly230Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011224 p.Gly239Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011225 p.Gly264Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011226 p.Gly292Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011227 p.Gly295Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011228 p.Gly298Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011229 p.Gly319Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011230 p.Gly412Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011231 p.Gly415Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011232 p.Gly420Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011233 p.Gly420Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011234 p.Gly423Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011235 p.Gly491Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011236 p.Gly497Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011237 p.Gly524Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011238 p.Gly558Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011239 p.Gly573Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011240 p.Gly579Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011241 p.Gly603Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011242 p.Gly609Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011243 p.Pro619Ser Polymorphism - -
COL4A5 P29400 VAR_011244 p.Gly621Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011245 p.Gly624Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011246 p.Gly629Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011247 p.Gly632Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011248 p.Glu633Lys Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011249 p.Gly681Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011250 p.Gly722Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011251 p.Pro739Ala Polymorphism - -
COL4A5 P29400 VAR_011252 p.Pro739Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011253 p.Gly802Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011255 p.Gly811Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011256 p.Gly822Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011258 p.Met898Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011259 p.Gly902Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011260 p.Gly911Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011261 p.Gly941Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011262 p.Gly947Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011263 p.Gly953Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011264 p.Gly1006Ala Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011265 p.Gly1006Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011266 p.Gly1015Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011267 p.Gly1015Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011268 p.Gly1030Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011269 p.Gly1036Val Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011270 p.Gly1039Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011271 p.Gly1045Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011272 p.Gly1066Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011273 p.Gly1066Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011274 p.Gly1086Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011275 p.Gly1158Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011276 p.Gly1167Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011277 p.Gly1170Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011278 p.Gly1196Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011279 p.Gly1205Cys Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011280 p.Gly1211Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011281 p.Gly1229Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011282 p.Gly1244Asp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011283 p.Gly1252Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011284 p.Gly1261Glu Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011285 p.Gly1357Ser Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011286 p.Leu1428Met Polymorphism - -
COL4A5 P29400 VAR_011287 p.Ser1488Phe Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011288 p.Arg1511His Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011289 p.Cys1567Arg Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011290 p.Arg1677Pro Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A5 P29400 VAR_011291 p.Cys1678Trp Disease - Alport syndrome X-linked (APSX) [MIM:301050]
COL4A6 Q14031 VAR_015216 p.Ser455Ala Polymorphism rs1042065 -
COL4A6 Q14031 VAR_015217 p.Asn1110Lys Polymorphism rs1042067 -
COL4A6 Q14031 VAR_032972 p.Pro1126Ser Polymorphism rs35179844 -
COL4A6 Q14031 VAR_032973 p.Ile1162Val Polymorphism rs34466065 -
COL4A6 Q14031 VAR_032974 p.Leu1362Pro Polymorphism rs35363062 -
COL4A6 Q14031 VAR_035748 p.Gly1130Glu Unclassified - A colorectal cancer sample
COL4A6 Q14031 VAR_059242 p.Ser455Pro Polymorphism rs1042065 -
COL5A1 P20908 VAR_001808 p.Cys1639Ser Disease - Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
COL5A1 P20908 VAR_015412 p.Gly530Ser Disease rs61735045 Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
COL5A1 P20908 VAR_015412 p.Gly530Ser Disease rs61735045 Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]
COL5A1 P20908 VAR_015413 p.Gly1489Asp Disease - Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
COL5A1 P20908 VAR_057902 p.Leu25Pro Disease - Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
COL5A1 P20908 VAR_057902 p.Leu25Pro Disease - Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]
COL5A1 P20908 VAR_057903 p.Leu25Arg Disease - Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
COL5A1 P20908 VAR_057903 p.Leu25Arg Disease - Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]
COL5A1 P20908 VAR_057904 p.Ala114Asp Unclassified - -
COL5A1 P20908 VAR_057905 p.Asp192Asn Unclassified - -
COL5A1 P20908 VAR_057906 p.Asp229Asn Unclassified - -
COL5A1 P20908 VAR_057907 p.Pro393Ser Unclassified - -
COL5A1 P20908 VAR_057908 p.Asn951Ser Polymorphism rs61736966 -
COL5A1 P20908 VAR_057909 p.Gly1486Cys Disease - Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]
COL5A1 P20908 VAR_057909 p.Gly1486Cys Disease - Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]
COL5A1 P20908 VAR_064702 p.Pro908Leu Unclassified - -
COL5A2 P05997 VAR_013588 p.Gly963Arg Disease - Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]
COL5A2 P05997 VAR_048799 p.Pro460Ser Polymorphism rs35830636 -
COL5A2 P05997 VAR_048800 p.Arg956Pro Polymorphism rs6434313 -
COL5A2 P05997 VAR_057910 p.Val512Ala Polymorphism rs35852101 -
COL5A2 P05997 VAR_057911 p.Pro833Leu Polymorphism - -
COL5A2 P05997 VAR_057912 p.Thr1230Ser Polymorphism - -
COL5A2 P05997 VAR_057913 p.Asp1432Val Polymorphism - -
COL5A3 P25940 VAR_020015 p.Arg134His Polymorphism rs2303098 -
COL5A3 P25940 VAR_020016 p.Arg1207Pro Polymorphism rs2287813 -
COL5A3 P25940 VAR_020017 p.Val1428Met Polymorphism rs3815746 -
COL5A3 P25940 VAR_020018 p.Ile1594Met Polymorphism rs3745581 -
COL5A3 P25940 VAR_020019 p.Val1691Ile Polymorphism rs2277969 -
COL5A3 P25940 VAR_055678 p.Arg1042Pro Polymorphism rs2161468 -
COL5A3 P25940 VAR_055679 p.Ala1488Pro Polymorphism rs3745584 -
COL5A3 P25940 VAR_060789 p.Arg322Gly Polymorphism rs2287803 -
COL6A1 P12109 VAR_013580 p.Lys121Arg Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A1 P12109 VAR_013581 p.Gly305Val Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A1 P12109 VAR_013582 p.Gly341Asp Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A1 P12109 VAR_048763 p.Arg439Gln Polymorphism rs35059000 -
COL6A1 P12109 VAR_048764 p.Arg850His Polymorphism rs1053312 -
COL6A1 P12109 VAR_058213 p.Ser116Asn Disease rs11553519 Bethlem myopathy (BM) [MIM:158810]
COL6A1 P12109 VAR_058214 p.Gly272Asp Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A1 P12109 VAR_058215 p.Pro274Leu Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A1 P12109 VAR_058216 p.Gly275Arg Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A1 P12109 VAR_058217 p.Gly281Arg Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
COL6A1 P12109 VAR_058218 p.Gly284Arg Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
COL6A1 P12109 VAR_058219 p.Gly290Arg Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A1 P12109 VAR_058219 p.Gly290Arg Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
COL6A1 P12109 VAR_058220 p.Gly332Ser Polymorphism rs11701912 -
COL6A1 P12109 VAR_058221 p.Gly341Val Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A1 P12109 VAR_058222 p.Lys571Thr Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A1 P12109 VAR_058223 p.Thr881Met Polymorphism - -
COL6A1 P12109 VAR_058224 p.Ser890Leu Polymorphism rs13051496 -
COL6A2 P12110 VAR_013589 p.Gly271Ser Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A2 P12110 VAR_013590 p.Asp621Asn Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A2 P12110 VAR_030315 p.Ser399Asn Polymorphism rs2839110 -
COL6A2 P12110 VAR_030316 p.Arg680His Polymorphism rs1042917 -
COL6A2 P12110 VAR_048801 p.Asp227Asn Polymorphism rs35881321 -
COL6A2 P12110 VAR_048802 p.Gly935Arg Polymorphism rs35548026 -
COL6A2 P12110 VAR_048803 p.Ile1015Leu Polymorphism rs11910483 -
COL6A2 P12110 VAR_058225 p.Glu106Lys Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A2 P12110 VAR_058226 p.Gly283Arg Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
COL6A2 P12110 VAR_058227 p.Arg489Gln Polymorphism - -
COL6A2 P12110 VAR_058228 p.Arg498His Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
COL6A2 P12110 VAR_058229 p.Pro518Ser Polymorphism - -
COL6A2 P12110 VAR_058230 p.Gly531Arg Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
COL6A2 P12110 VAR_058231 p.Gly700Ser Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A2 P12110 VAR_058232 p.Arg724Cys Polymorphism - -
COL6A2 P12110 VAR_058233 p.Cys777Arg Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A2 P12110 VAR_058234 p.Arg784His Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
COL6A2 P12110 VAR_058235 p.Val804Gly Polymorphism - -
COL6A2 P12110 VAR_058236 p.Leu837Pro Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
COL6A2 P12110 VAR_058237 p.Arg853Gln Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A2 P12110 VAR_058238 p.Arg876Ser Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
COL6A2 P12110 VAR_058239 p.Ser895Arg Polymorphism - -
COL6A2 P12110 VAR_058241 p.Pro932Leu Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A3 P12111 VAR_001910 p.Gly1679Glu Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A3 P12111 VAR_001911 p.Asp2831His Polymorphism rs36104025 -
COL6A3 P12111 VAR_047279 p.Thr538Met Polymorphism rs34741387 -
COL6A3 P12111 VAR_047280 p.Arg659His Polymorphism rs36092870 -
COL6A3 P12111 VAR_047281 p.Val886Glu Polymorphism rs9630964 -
COL6A3 P12111 VAR_047282 p.Lys1088Gln Polymorphism rs11896521 -
COL6A3 P12111 VAR_047283 p.Pro2218Leu Polymorphism rs36117715 -
COL6A3 P12111 VAR_047284 p.Asn2805Thr Polymorphism rs35848091 -
COL6A3 P12111 VAR_047285 p.Met2927Thr Polymorphism rs6728818 -
COL6A3 P12111 VAR_047286 p.Met2988Val Polymorphism rs11690358 -
COL6A3 P12111 VAR_047287 p.Ala3012Pro Polymorphism rs2270669 -
COL6A3 P12111 VAR_047288 p.Thr3069Ile Polymorphism rs1131296 -
COL6A3 P12111 VAR_058242 p.Leu411Val Polymorphism - -
COL6A3 P12111 VAR_058243 p.Asp491His Polymorphism - -
COL6A3 P12111 VAR_058244 p.Thr492Ser Polymorphism - -
COL6A3 P12111 VAR_058245 p.Arg677His Disease rs35227432 Bethlem myopathy (BM) [MIM:158810]
COL6A3 P12111 VAR_058246 p.Ala807Thr Polymorphism - -
COL6A3 P12111 VAR_058247 p.Ala830Ser Polymorphism - -
COL6A3 P12111 VAR_058248 p.Lys1014Glu Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A3 P12111 VAR_058249 p.Arg1064Gln Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
COL6A3 P12111 VAR_058250 p.Glu1386Lys Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A3 P12111 VAR_058251 p.Arg1395Gln Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
COL6A3 P12111 VAR_058252 p.Asn1467Asp Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A3 P12111 VAR_058253 p.Arg1576Gln Polymorphism - -
COL6A3 P12111 VAR_058254 p.Arg1632Gln Polymorphism - -
COL6A3 P12111 VAR_058255 p.Asp1674Asn Disease - Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]
COL6A3 P12111 VAR_058256 p.Pro1687Ser Polymorphism rs35273032 -
COL6A3 P12111 VAR_058257 p.Leu1726Arg Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A3 P12111 VAR_058258 p.Val1985Met Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A3 P12111 VAR_058259 p.Gly2047Asp Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A3 P12111 VAR_058260 p.Gly2056Arg Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A3 P12111 VAR_058261 p.Gly2080Asp Disease - Bethlem myopathy (BM) [MIM:158810]
COL6A3 P12111 VAR_058262 p.Asp2431Val Polymorphism - -
COL6A3 P12111 VAR_058263 p.Glu2453Lys Polymorphism - -
COL6A3 P12111 VAR_058264 p.Ala2941Val Disease rs11903206 Bethlem myopathy (BM) [MIM:158810]
COL6A5 A8TX70 VAR_043607 p.Gln2188Arg Polymorphism rs9883988 -
COL6A5 A8TX70 VAR_043608 p.Gly2205Asp Polymorphism rs819085 -
COL6A5 A8TX70 VAR_059234 p.Glu455Lys Polymorphism rs1453241 -
COL6A5 A8TX70 VAR_059235 p.Asn641His Polymorphism rs9882852 -
COL6A5 A8TX70 VAR_059236 p.His805Arg Polymorphism rs16827168 -
COL6A5 A8TX70 VAR_059237 p.Asp982Gly Polymorphism rs11917356 -
COL6A5 A8TX70 VAR_059238 p.Ile1114Met Polymorphism rs1353613 -
COL6A5 A8TX70 VAR_059239 p.Thr1280Pro Polymorphism rs12488457 -
COL6A5 A8TX70 VAR_059240 p.Cys1477Ser Polymorphism rs1497312 -
COL6A5 A8TX70 VAR_059241 p.Ser1589Pro Polymorphism rs16827497 -
COL6A5 A8TX70 VAR_061119 p.Asp2175Asn Polymorphism rs60021408 -
COL6A6 A6NMZ7 VAR_043609 p.Glu345Lys Polymorphism rs4613427 -
COL6A6 A6NMZ7 VAR_043610 p.Ala370Thr Polymorphism rs9830253 -
COL6A6 A6NMZ7 VAR_043611 p.Glu461Ala Polymorphism rs11921769 -
COL6A6 A6NMZ7 VAR_043612 p.Arg1739Gln Polymorphism rs16830494 -
COL6A6 A6NMZ7 VAR_043613 p.His1799Arg Polymorphism rs7614116 -
COL6A6 A6NMZ7 VAR_061120 p.Pro556Ser Polymorphism rs59021909 -
COL7A1 Q02388 VAR_001809 p.Lys142Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_001810 p.Pro595Leu Disease rs2228561 Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_001811 p.Pro1277Leu Disease rs35761247 Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_001812 p.Gly1557Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_001813 p.Gly1782Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_001814 p.Gly1982Trp Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
COL7A1 Q02388 VAR_001815 p.Gly2003Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_001816 p.Arg2008Gly Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
COL7A1 Q02388 VAR_001817 p.Gly2025Ala Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_001818 p.Gly2034Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_001818 p.Gly2034Arg Disease - Epidermolysis bullosa dystrophica with subcorneal cleavage (EBDSC) [MIM:607600]
COL7A1 Q02388 VAR_001819 p.Gly2040Ser Disease - Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750]
COL7A1 Q02388 VAR_001820 p.Gly2043Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_001821 p.Gly2049Glu Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
COL7A1 Q02388 VAR_001822 p.Gly2055Glu Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_001823 p.Arg2063Trp Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
COL7A1 Q02388 VAR_001825 p.Gly2073Asp Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_001826 p.Gly2076Asp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_001827 p.Gly2079Glu Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_001828 p.Gly2242Arg Disease - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
COL7A1 Q02388 VAR_001829 p.Gly2351Arg Polymorphism rs1800013 -
COL7A1 Q02388 VAR_001830 p.Gly2569Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_001831 p.Gly2575Arg Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
COL7A1 Q02388 VAR_001832 p.Gly2623Cys Disease - Epidermolysis bullosa dystrophica pretibial type (PR-DEB) [MIM:131850]
COL7A1 Q02388 VAR_001833 p.Gly2653Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_001834 p.Gly2671Val Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_001835 p.Gly2674Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_001836 p.Gly2749Arg Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
COL7A1 Q02388 VAR_001837 p.Met2798Lys Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
COL7A1 Q02388 VAR_011160 p.Gly1347Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011161 p.Gly1519Asp Disease - Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]
COL7A1 Q02388 VAR_011162 p.Gly1522Glu Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011163 p.Gly1604Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011164 p.Gly1652Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011165 p.Gly1703Glu Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011166 p.Arg1772Trp Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011167 p.Gly1776Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011168 p.Gly1791Glu Disease - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
COL7A1 Q02388 VAR_011169 p.Gly1812Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011170 p.Gly2006Ala Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011171 p.Gly2006Asp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011172 p.Arg2008Cys Disease - Epidermolysis bullosa dystrophica Hallopeau-Siemens type (HS-DEB) [MIM:226600]
COL7A1 Q02388 VAR_011173 p.Gly2009Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011174 p.Gly2015Glu Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011175 p.Gly2028Ala Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011176 p.Gly2028Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011176 p.Gly2028Arg Disease - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
COL7A1 Q02388 VAR_011177 p.Gly2031Ser Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011178 p.Gly2034Trp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011179 p.Gly2037Glu Disease - Epidermolysis bullosa dystrophica Pasini type (P-DEB) [MIM:131750]
COL7A1 Q02388 VAR_011180 p.Gly2040Asp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011181 p.Gly2040Val Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011182 p.Gly2043Trp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011183 p.Gly2046Val Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011184 p.Gly2064Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011185 p.Gly2079Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011186 p.Gly2132Asp Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011187 p.Gly2192Ser Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011188 p.Gly2207Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011189 p.Gly2251Glu Disease - Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]
COL7A1 Q02388 VAR_011190 p.Gly2263Val Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011191 p.Gly2287Arg Polymorphism - -
COL7A1 Q02388 VAR_011192 p.Gly2316Arg Unclassified - -
COL7A1 Q02388 VAR_011193 p.Gly2348Arg Unclassified - -
COL7A1 Q02388 VAR_011194 p.Gly2366Ser Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011195 p.Gly2369Ser Disease - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
COL7A1 Q02388 VAR_011196 p.Gly2674Asp Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011197 p.Gly2713Asp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_011198 p.Gly2713Arg Disease - Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]
COL7A1 Q02388 VAR_011199 p.Gly2740Ala Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011200 p.Gly2775Ser Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_011201 p.Arg2791Trp Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_015519 p.Gly1595Arg Disease - Nail disorder non-syndromic congenital type 8 (NDNC8) [MIM:607523]
COL7A1 Q02388 VAR_015520 p.Gly1815Arg Disease - Nail disorder non-syndromic congenital type 8 (NDNC8) [MIM:607523]
COL7A1 Q02388 VAR_033786 p.Pro2429Leu Polymorphism rs2229822 -
COL7A1 Q02388 VAR_035740 p.Thr119Pro Unclassified - A breast cancer sample
COL7A1 Q02388 VAR_035741 p.Pro1364Thr Unclassified - A breast cancer sample
COL7A1 Q02388 VAR_035742 p.Arg1366Trp Unclassified - A breast cancer sample
COL7A1 Q02388 VAR_048765 p.Val547Phe Polymorphism rs2229823 -
COL7A1 Q02388 VAR_048766 p.Arg1120Lys Polymorphism rs2228563 -
COL7A1 Q02388 VAR_064994 p.Gly1845Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_064995 p.Lys1981Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_064996 p.Arg2069Cys Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_064997 p.Gly2070Arg Disease - Epidermolysis bullosa dystrophica autosomal dominant (DDEB) [MIM:131750]
COL7A1 Q02388 VAR_064998 p.Gly2221Ala Unclassified - -
COL7A1 Q02388 VAR_064999 p.Gly2296Glu Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_065000 p.Gly2557Arg Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL7A1 Q02388 VAR_065001 p.Arg2622Trp Disease - Epidermolysis bullosa dystrophica autosomal recessive (RDEB) [MIM:226600]
COL8A2 P25067 VAR_017893 p.Gly3Arg Polymorphism - -
COL8A2 P25067 VAR_017894 p.Arg155Gln Disease - Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]
COL8A2 P25067 VAR_017895 p.Arg304Gln Disease - Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]
COL8A2 P25067 VAR_017896 p.Gly357Arg Disease - Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]
COL8A2 P25067 VAR_017897 p.Arg434His Disease - Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]
COL8A2 P25067 VAR_017898 p.Gln455Lys Disease - Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]
COL8A2 P25067 VAR_017898 p.Gln455Lys Disease - Posterior polymorphous corneal dystrophy type 2 (PPCD2) [MIM:609140]
COL8A2 P25067 VAR_017899 p.Pro575Leu Disease - Corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]
COL8A2 P25067 VAR_017900 p.Thr645Ile Polymorphism - -
COL8A2 P25067 VAR_021387 p.Thr502Met Polymorphism - -
COL9A1 P20849 VAR_023326 p.Arg870Lys Polymorphism rs1056921 -
COL9A1 P20849 VAR_023327 p.Val882Leu Polymorphism rs1056923 -
COL9A1 P20849 VAR_026463 p.Ser339Pro Polymorphism rs592121 -
COL9A1 P20849 VAR_026464 p.Gln621Arg Polymorphism rs1135056 -
COL9A1 P20849 VAR_055668 p.Glu684Lys Polymorphism rs35470562 -
COL9A1 P20849 VAR_055669 p.Met767Val Polymorphism rs6910140 -
COL9A2 Q14055 VAR_012658 p.Gln326Trp Disease - Intervertebral disc disease (IDD) [MIM:603932]
COL9A2 Q14055 VAR_012659 p.Gln326Arg Polymorphism rs2228564 -
COL9A2 Q14055 VAR_020014 p.Val581Ile Polymorphism rs3737821 -
COL9A2 Q14055 VAR_026465 p.Thr246Met Polymorphism rs2228565 -
COL9A2 Q14055 VAR_026466 p.Leu335Val Polymorphism rs2228567 -
COL9A3 Q14050 VAR_026467 p.Arg103Gln Polymorphism - -
COL9A3 Q14050 VAR_026468 p.Arg103Trp Unclassified - -
COL9A3 Q14050 VAR_026469 p.Pro296Leu Polymorphism rs45628843 -
COL9A3 Q14050 VAR_026470 p.Arg402Gln Polymorphism - -
COL9A3 Q14050 VAR_026471 p.Ala435Glu Polymorphism rs751557 -
COL9A3 Q14050 VAR_048808 p.Pro94Ser Polymorphism rs35908728 -
COLEC11 Q9BWP8 VAR_038143 p.His219Arg Polymorphism rs7567833 -
COLEC11 Q9BWP8 VAR_065901 p.Ser169Pro Disease - 3MC syndrome type 2 (3MC2) [MIM:265050]
COLEC11 Q9BWP8 VAR_065902 p.Gly204Ser Disease - 3MC syndrome type 2 (3MC2) [MIM:265050]
COLEC12 Q5KU26 VAR_038853 p.Lys91Glu Polymorphism rs17855029 -
COLEC12 Q5KU26 VAR_038854 p.Ile487Val Polymorphism rs8098850 -
COLEC12 Q5KU26 VAR_038855 p.Ser522Pro Polymorphism rs2305025 -
COLEC12 Q5KU26 VAR_038856 p.Gly606Ser Polymorphism rs2305027 -
COLQ Q9Y215 VAR_010133 p.Pro59Gln Disease - Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]
COLQ Q9Y215 VAR_010134 p.Asp342Glu Disease - Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]
COLQ Q9Y215 VAR_010135 p.Arg410Gln Disease - Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]
COLQ Q9Y215 VAR_010136 p.Tyr430Ser Disease - Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]
COLQ Q9Y215 VAR_010137 p.Cys444Tyr Disease - Congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]
COLQ Q9Y215 VAR_048809 p.Ser312Gly Polymorphism rs6782980 -
COMMD10 Q9Y6G5 VAR_061122 p.Ile128Ser Polymorphism rs1129495 -
COMMD2 Q86X83 VAR_028010 p.Ile113Leu Polymorphism rs9843784 -
COMMD2 Q86X83 VAR_028011 p.Gln177His Polymorphism rs1546732 -
COMMD3 Q9UBI1 VAR_061121 p.Arg18Gly Polymorphism rs11552445 -
COMMD5 Q9GZQ3 VAR_020130 p.Ala6Thr Polymorphism rs1209879 -
COMMD5 Q9GZQ3 VAR_048812 p.Gln69His Polymorphism rs421427 -
COMMD6 Q7Z4G1 VAR_048813 p.His52Asn Polymorphism rs1063485 -
COMMD8 Q9NX08 VAR_048814 p.Ala17Pro Polymorphism rs35444219 -
COMP P49747 VAR_007614 p.Asp290Asn Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_007615 p.Gly299Arg Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_007616 p.Cys328Arg Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_007617 p.Asp342Tyr Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_007618 p.Asp349Val Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_007619 p.Asp361Val Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_007620 p.Asp361Tyr Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_007622 p.Cys371Ser Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_007625 p.Cys387Gly Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_007627 p.Asp408Tyr Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_007628 p.Gly440Glu Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_007629 p.Gly440Arg Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_007630 p.Asn453Ser Disease rs28936668 Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_007632 p.Cys468Tyr Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_007634 p.Asp472Tyr Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_007635 p.Asp473Gly Disease rs28936669 Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_007637 p.Asp482Gly Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_007639 p.Asp518Asn Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_007640 p.Asn523Lys Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_007641 p.Thr585Met Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_007642 p.Thr585Arg Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_007642 p.Thr585Arg Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_016254 p.Glu50Asp Polymorphism - -
COMP P49747 VAR_016255 p.Leu51Trp Polymorphism - -
COMP P49747 VAR_016257 p.Ala109Gly Polymorphism - -
COMP P49747 VAR_016258 p.Arg224Gly Polymorphism - -
COMP P49747 VAR_016261 p.Arg285Pro Polymorphism - -
COMP P49747 VAR_017102 p.Cys348Arg Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_017103 p.Gly719Asp Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_026239 p.Pro276Arg Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_026240 p.Asp420Ala Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_046796 p.Arg381Cys Polymorphism rs3179763 -
COMP P49747 VAR_066789 p.Gly167Glu Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066790 p.Pro234Ser Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066791 p.Asp290Gly Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066792 p.Ser298Leu Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066793 p.Ala311Asp Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066794 p.Asp317Gly Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066795 p.Asp326Gly Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066796 p.Asp326Tyr Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066798 p.Cys348Phe Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066800 p.Cys371Tyr Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066801 p.Asp374Asn Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066802 p.Asp376Asn Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066803 p.Asp378Val Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066804 p.Asp385Asn Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066805 p.Asp385Tyr Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066807 p.Cys387Arg Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066808 p.Asp397His Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066810 p.Gly404Arg Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066811 p.Cys410Tyr Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066812 p.Asn415Lys Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066813 p.Gly427Glu Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066815 p.Asp446Asn Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066816 p.Cys448Ser Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066819 p.Asp473His Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066820 p.Asp475Asn Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066821 p.Gly501Asp Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066822 p.Asp507Gly Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066823 p.Asp511Gly Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066824 p.Asp515Gly Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066825 p.Thr529Ile Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066826 p.Arg718Pro Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066827 p.Arg718Trp Disease - Multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]
COMP P49747 VAR_066828 p.Gly719Ser Disease - Pseudoachondroplasia (PSACH) [MIM:177170]
COMP P49747 VAR_066829 p.Gln756Arg Unclassified - -
COMT P21964 VAR_005139 p.Val158Met Polymorphism rs4680 -
COMT P21964 VAR_013925 p.Cys34Ser Polymorphism rs6270 -
COMT P21964 VAR_013926 p.Ala72Ser Polymorphism rs6267 -
COMT P21964 VAR_020274 p.Ala102Thr Polymorphism rs5031015 -
COMT P21964 VAR_020275 p.Ala146Val Polymorphism rs4986871 -
COPA P53621 VAR_033803 p.Val1040Gly Polymorphism rs34997807 -
COPA P53621 VAR_066525 p.Ile164Val Unclassified - -
COPE O14579 VAR_054032 p.Ser13Cys Polymorphism rs2231987 -
COPE O14579 VAR_054033 p.Thr117Ile Polymorphism rs10330 -
COPG Q9Y678 VAR_054039 p.Met681Thr Polymorphism rs15648 -
COPG2 Q9UBF2 VAR_060181 p.Ile547Leu Polymorphism rs10128 -
COPG2 Q9UBF2 VAR_060182 p.Pro626Leu Polymorphism rs17333054 -
COPR5 Q9NQ92 VAR_043538 p.Ser43Gly Polymorphism rs8068049 -
COQ10A Q96MF6 VAR_025703 p.Pro79His Polymorphism rs11543258 -
COQ10A Q96MF6 VAR_048828 p.Pro231Ser Polymorphism rs3184994 -
COQ10B Q9H8M1 VAR_033823 p.Leu48Phe Polymorphism rs34946819 -
COQ2 Q96H96 VAR_025701 p.Tyr247Cys Disease - Coenzyme Q10 deficiency (COQ10D) [MIM:607426]
COQ3 Q9NZJ6 VAR_020789 p.Ser272Gly Polymorphism rs6925344 -
COQ3 Q9NZJ6 VAR_020790 p.Tyr329His Polymorphism rs4144164 -
COQ3 Q9NZJ6 VAR_061925 p.Lys134Glu Polymorphism rs11548336 -
COQ4 Q9Y3A0 VAR_048829 p.Arg20Gln Polymorphism rs9697215 -
COQ4 Q9Y3A0 VAR_054861 p.Gly50Ala Polymorphism rs3003601 -
COQ5 Q5HYK3 VAR_025702 p.Ala152Thr Polymorphism rs3742049 -
COQ6 Q9Y2Z9 VAR_014953 p.Val406Met Polymorphism rs8500 -
COQ6 Q9Y2Z9 VAR_033813 p.Asp339Val Polymorphism rs2074930 -
COQ6 Q9Y2Z9 VAR_033814 p.Thr395Met Polymorphism rs34746680 -
COQ6 Q9Y2Z9 VAR_052691 p.Asp300Tyr Polymorphism rs1044640 -
COQ7 Q99807 VAR_055148 p.Thr103Met Polymorphism rs11074359 -
CORIN Q9Y5Q5 VAR_038000 p.Cys13Tyr Polymorphism rs2289433 -
CORIN Q9Y5Q5 VAR_038001 p.His525Arg Polymorphism rs11934749 -
CORO1A P31146 VAR_011956 p.Arg415Lys Polymorphism rs1804109 -
CORO1A P31146 VAR_011957 p.Thr443Pro Polymorphism rs1053574 -
CORO1B Q9BR76 VAR_035877 p.Val411Met Unclassified - A colorectal cancer sample
CORO1B Q9BR76 VAR_053389 p.Arg476Leu Polymorphism rs2286624 -
CORO2A Q92828 VAR_053390 p.Arg296His Polymorphism rs2231666 -
CORO2A Q92828 VAR_053391 p.Arg495Leu Polymorphism rs35787916 -
CORO2B Q9UQ03 VAR_035878 p.Pro318Leu Unclassified - A colorectal cancer sample
CORO2B Q9UQ03 VAR_058323 p.Leu238Val Polymorphism rs17852400 -
CORO7 P57737 VAR_057585 p.Ala174Val Polymorphism rs17137007 -
CORO7 P57737 VAR_057586 p.Arg193Gln Polymorphism rs3747579 -
CORO7 P57737 VAR_057587 p.Leu257Ser Polymorphism rs35357594 -
CORO7 P57737 VAR_057588 p.Ala403Thr Polymorphism rs9928967 -
COX10 Q12887 VAR_026562 p.Thr196Lys Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
COX10 Q12887 VAR_026563 p.Asn204Lys Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
COX10 Q12887 VAR_026564 p.Pro225Leu Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
COX10 Q12887 VAR_026565 p.Asp336Gly Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
COX10 Q12887 VAR_026566 p.Asp336Val Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
COX10 Q12887 VAR_057371 p.Thr28Ile Polymorphism rs16948978 -
COX10 Q12887 VAR_057372 p.Thr62Ser Polymorphism rs2230351 -
COX10 Q12887 VAR_057373 p.Tyr97Cys Polymorphism rs16948986 -
COX10 Q12887 VAR_060233 p.Arg159Gln Polymorphism rs8077302 -
COX10 Q12887 VAR_060234 p.Gly340Asp Polymorphism rs1050214 -
COX10 Q12887 VAR_064768 p.Leu258His Polymorphism - -
COX11 Q9Y6N1 VAR_048831 p.Pro74Leu Polymorphism rs34080917 -
COX15 Q7KZN9 VAR_019596 p.Arg217Trp Disease rs28939711 Leigh syndrome (LS) [MIM:256000]
COX15 Q7KZN9 VAR_019596 p.Arg217Trp Disease rs28939711 Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
COX15 Q7KZN9 VAR_033117 p.Ser344Pro Disease - Leigh syndrome (LS) [MIM:256000]
COX4I1 P13073 VAR_002170 p.Tyr38Phe Polymorphism - -
COX4I1 P13073 VAR_061127 p.Ala3Thr Polymorphism rs11557187 -
COX4I2 Q96KJ9 VAR_033815 p.Arg161His Polymorphism rs11907253 -
COX4I2 Q96KJ9 VAR_058101 p.Glu138Lys Disease - Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]
COX6B1 P14854 VAR_046775 p.Arg20His Disease - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
COX7A2 P14406 VAR_012319 p.Glu40Asp Polymorphism - -
COX7B2 Q8TF08 VAR_026231 p.His27Gln Polymorphism - -
CP P00450 VAR_025655 p.Ile63Thr Unclassified - -
CP P00450 VAR_025656 p.Pro477Leu Polymorphism rs35331711 -
CP P00450 VAR_025657 p.Asp544Glu Polymorphism rs701753 -
CP P00450 VAR_025658 p.Thr551Ile Polymorphism - -
CP P00450 VAR_025659 p.Arg793His Polymorphism - -
CP P00450 VAR_025660 p.Thr841Arg Polymorphism rs56033670 -
CP P00450 VAR_032815 p.Arg367Cys Polymorphism rs34624984 -
CPA1 P15085 VAR_048593 p.Ala208Thr Polymorphism rs34474469 -
CPA1 P15085 VAR_054311 p.His276Arg Polymorphism rs17849959 -
CPA2 P48052 VAR_031204 p.Glu82Gly Polymorphism rs17850135 -
CPA3 P15088 VAR_033725 p.Thr171Met Polymorphism rs12489516 -
CPA3 P15088 VAR_048602 p.Ala81Ser Polymorphism rs2270523 -
CPA4 Q9UI42 VAR_020393 p.Pro157Thr Polymorphism rs3735051 -
CPA4 Q9UI42 VAR_020394 p.Gly303Cys Polymorphism rs2171492 -
CPA4 Q9UI42 VAR_048594 p.Leu27Phe Polymorphism rs34587586 -
CPA4 Q9UI42 VAR_048595 p.Arg183Leu Polymorphism rs3735053 -
CPA5 Q8WXQ8 VAR_017191 p.Pro79Ser Polymorphism rs17388190 -
CPA5 Q8WXQ8 VAR_017192 p.Leu336Ser Polymorphism rs11761888 -
CPA5 Q8WXQ8 VAR_017193 p.Glu338Asp Polymorphism - -
CPA5 Q8WXQ8 VAR_048596 p.Ser378Gly Polymorphism rs11765961 -
CPA6 Q8N4T0 VAR_024241 p.Phe45Leu Polymorphism rs10957393 -
CPA6 Q8N4T0 VAR_025003 p.Ser173Cys Polymorphism rs17853192 -
CPA6 Q8N4T0 VAR_048597 p.Asn249Ser Polymorphism rs17343819 -
CPA6 Q8N4T0 VAR_066946 p.Gly267Arg Unclassified - -
CPA6 Q8N4T0 VAR_066947 p.Ala270Val Unclassified - -
CPAMD8 Q8IZJ3 VAR_038655 p.Arg251Trp Polymorphism rs10426545 -
CPAMD8 Q8IZJ3 VAR_038656 p.Met265Thr Polymorphism rs4808551 -
CPAMD8 Q8IZJ3 VAR_038657 p.Arg294Gln Polymorphism rs3745340 -
CPAMD8 Q8IZJ3 VAR_038658 p.Asp539Glu Polymorphism rs3745335 -
CPAMD8 Q8IZJ3 VAR_038659 p.His546Arg Polymorphism rs1824152 -
CPAMD8 Q8IZJ3 VAR_038660 p.Pro736His Polymorphism rs9305083 -
CPAMD8 Q8IZJ3 VAR_038661 p.Val1156Ile Polymorphism rs2250918 -
CPAMD8 Q8IZJ3 VAR_038662 p.Thr1268Ile Polymorphism rs706761 -
CPAMD8 Q8IZJ3 VAR_038663 p.Gln1843Arg Polymorphism rs1054533 -
CPB1 P15086 VAR_048598 p.Asp208Asn Polymorphism rs1059502 -
CPB2 Q96IY4 VAR_022258 p.Ile347Thr Polymorphism rs1926447 -
CPB2 Q96IY4 VAR_032565 p.Ala169Thr Polymorphism rs3742264 -
CPD O75976 VAR_027771 p.Lys36Glu Polymorphism rs17857300 -
CPD O75976 VAR_027772 p.Glu454Gly Polymorphism rs17857301 -
CPD O75976 VAR_027773 p.His505Asn Polymorphism rs17854355 -
CPD O75976 VAR_027774 p.Thr899Ile Polymorphism rs1860543 -
CPE P16870 VAR_036011 p.Arg297Gln Unclassified - A colorectal cancer sample
CPE P16870 VAR_048599 p.Trp235Arg Polymorphism rs34516004 -
CPEB3 Q8NE35 VAR_029776 p.Arg324Trp Polymorphism rs17853616 -
CPM P14384 VAR_048600 p.Arg24His Polymorphism rs7978197 -
CPM P14384 VAR_048601 p.Val133Ile Polymorphism rs7309831 -
CPN1 P15169 VAR_042415 p.Gly178Asp Disease - Carboxypeptidase N deficiency (CPND) [MIM:212070]
CPN2 P22792 VAR_019721 p.Val536Met Polymorphism rs11711157 -
CPN2 P22792 VAR_019722 p.Ala305Thr Polymorphism rs3732477 -
CPN2 P22792 VAR_065186 p.Gln509Arg Polymorphism rs4974538 -
CPNE1 Q99829 VAR_024423 p.Gln211Arg Polymorphism rs6579255 -
CPNE1 Q99829 VAR_048846 p.Pro347Arg Polymorphism rs12481228 -
CPNE1 Q99829 VAR_048847 p.Pro535Leu Polymorphism rs11543239 -
CPNE3 O75131 VAR_024424 p.Thr412Met Polymorphism rs2304789 -
CPNE3 O75131 VAR_048848 p.Glu252Asp Polymorphism rs41333046 -
CPNE5 Q9HCH3 VAR_020358 p.Asn33Ser Polymorphism rs3734334 -
CPNE5 Q9HCH3 VAR_021954 p.Arg582His Polymorphism rs3830138 -
CPNE7 Q9UBL6 VAR_021955 p.Phe77Leu Polymorphism rs455527 -
CPNE7 Q9UBL6 VAR_021956 p.Pro633Leu Polymorphism rs3751682 -
CPNE7 Q9UBL6 VAR_033822 p.Arg397Gln Polymorphism rs28568523 -
CPNE7 Q9UBL6 VAR_048849 p.Lys507Glu Polymorphism rs35731090 -
CPO Q8IVL8 VAR_027850 p.Met85Ile Polymorphism rs13420911 -
CPO Q8IVL8 VAR_027851 p.Ser134Arg Polymorphism rs11903403 -
CPO Q8IVL8 VAR_036012 p.Lys273Asn Unclassified - A colorectal cancer sample
CPOX P36551 VAR_002152 p.Gly189Ser Disease - Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_002153 p.Gly197Trp Disease - Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_002154 p.Glu201Lys Disease - Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_002155 p.Pro249Ser Disease - Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_002156 p.Asn272His Polymorphism rs1131857 -
CPOX P36551 VAR_002157 p.Gly280Arg Disease - Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_002158 p.Val294Ile Polymorphism rs2228056 -
CPOX P36551 VAR_002159 p.His295Asp Disease - Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_002160 p.Arg331Trp Disease - Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_002162 p.Lys404Glu Disease - Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_002163 p.Trp427Arg Disease - Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_019067 p.Ser208Phe Disease rs28929486 Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_019068 p.Arg328Cys Disease rs28929487 Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_019069 p.Arg447Cys Disease rs28931603 Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_023444 p.Val135Ala Disease - Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_023445 p.Leu214Arg Disease - Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_023446 p.Pro249Arg Disease - Hereditary coproporphyria (HCP) [MIM:121300]
CPOX P36551 VAR_048827 p.Arg352Cys Polymorphism rs11921054 -
CPOX P36551 VAR_058005 p.Gly279Arg Disease - Hereditary coproporphyria (HCP) [MIM:121300]
CPPED1 Q9BRF8 VAR_039204 p.Ala19Asp Polymorphism rs3748976 -
CPPED1 Q9BRF8 VAR_039205 p.Val86Ile Polymorphism rs3748980 -
CPPED1 Q9BRF8 VAR_039206 p.Lys241Arg Polymorphism rs1713480 -
CPPED1 Q9BRF8 VAR_039207 p.His290Pro Polymorphism rs11645068 -
CPS1 P31327 VAR_006834 p.Thr344Ala Polymorphism rs1047883 -
CPS1 P31327 VAR_006835 p.Thr544Met Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_014077 p.His337Arg Disease rs28940283 Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_017562 p.Val457Gly Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_017563 p.Gln810Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_017564 p.Leu843Ser Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_017565 p.Lys875Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_017566 p.Phe1266Ser Polymorphism rs1047886 -
CPS1 P31327 VAR_017567 p.Met1283Leu Polymorphism rs1047887 -
CPS1 P31327 VAR_017568 p.Gly1376Ser Polymorphism - -
CPS1 P31327 VAR_017569 p.Thr1406Asn Polymorphism rs1047891 -
CPS1 P31327 VAR_030675 p.Arg850His Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_030676 p.Ser918Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_061752 p.Thr344Ser Polymorphism rs1047883 -
CPS1 P31327 VAR_063560 p.Gly79Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063561 p.Tyr212Asn Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063562 p.Lys280Asn Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063563 p.Ala438Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063564 p.Arg587His Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063565 p.Gly593Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063566 p.Glu651Lys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063567 p.Asn674Ile Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063568 p.Arg780His Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063569 p.Arg850Cys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063570 p.Gly982Asp Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063571 p.Gln1103Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063572 p.Val1141Gly Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063573 p.His1195Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063574 p.Ile1215Val Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_063575 p.Asn1241Lys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_064062 p.Ser123Phe Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_064063 p.Thr471Asn Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_064064 p.Gln678Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_064065 p.Pro774Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_064066 p.Pro1411Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_064067 p.Arg1453Gln Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_064068 p.Arg1453Trp Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_064069 p.Tyr1491His Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066104 p.Gly301Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066105 p.Tyr389Cys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066106 p.Leu390Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066107 p.Arg718Lys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066108 p.Arg721Gln Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066109 p.Ala724Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066110 p.Ala726Thr Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066111 p.Asp767Val Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066112 p.Met792Ile Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066113 p.Val978Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066114 p.Gly982Val Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066115 p.Tyr984His Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066116 p.Ile986Thr Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066117 p.Gly987Cys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066118 p.Phe992Ser Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066119 p.Asn1016Ser Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066120 p.Pro1017Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066121 p.Thr1022Ile Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066122 p.Glu1034Gly Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066123 p.His1045Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066124 p.Gln1059Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066125 p.Ala1065Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066126 p.Arg1089Cys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066127 p.Ala1155Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066128 p.Ala1155Val Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066129 p.Ser1203Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066130 p.Arg1228Gln Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066131 p.Glu1255Asp Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066132 p.Arg1262Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066133 p.Arg1262Gln Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066134 p.Asp1274His Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066135 p.Cys1327Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066136 p.Gly1333Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066137 p.Arg1371Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066138 p.Thr1391Met Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066139 p.Leu1398Val Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066140 p.Pro1439Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066141 p.Pro1462Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066142 p.Ala589Thr Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066143 p.Ala640Ser Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066144 p.Asn716Lys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066145 p.Arg803Cys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066146 p.Arg803Gly Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066147 p.Arg803Ser Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066148 p.Phe805Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066149 p.Phe805Ser Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066150 p.Arg814Trp Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066151 p.Cys816Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066152 p.Gly911Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066153 p.Gly911Val Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066154 p.Ser913Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066155 p.Asp914Gly Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066156 p.Asp914His Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066157 p.Arg932Thr Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066158 p.Ala949Thr Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066159 p.Leu958Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066160 p.Tyr959Cys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066161 p.Tyr962Cys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066162 p.Gly982Ser Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066163 p.Ser998Phe Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066164 p.Ile1054Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066165 p.Arg1089Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066166 p.Ser1203Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066167 p.Asp1205Asn Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066168 p.Ser1331Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066169 p.Ala1378Thr Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066170 p.Thr1443Ala Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066171 p.Ala43Val Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066172 p.Gly58Asp Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066173 p.Ser65Phe Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066174 p.Val71Gly Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066175 p.Pro87Ser Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066176 p.Tyr89Asp Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066177 p.Asp165Gly Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066178 p.Asp224Val Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066179 p.Arg233Cys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066180 p.His243Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066181 p.Gly258Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066182 p.Gly263Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066183 p.Ala304Val Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066184 p.Gly317Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066185 p.Asp358His Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066186 p.Pro382Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066187 p.Gly401Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066188 p.Gly431Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066189 p.Gly432Val Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066190 p.Ala438Thr Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066191 p.Lys450Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066192 p.Ala498Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066193 p.Val531Glu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066194 p.Val531Gly Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066195 p.Arg587Cys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066196 p.Arg587Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066197 p.Ser597Leu Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066198 p.Val622Met Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066199 p.Gly628Asp Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066200 p.Ile632Arg Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066201 p.Arg638Pro Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066202 p.Cys648Tyr Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066203 p.Asp654Val Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066204 p.Asn674Lys Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPS1 P31327 VAR_066205 p.Asn698Ser Disease - Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
CPSF3 Q9UKF6 VAR_035873 p.Asp578Asn Unclassified - A breast cancer sample
CPSF3 Q9UKF6 VAR_037646 p.Glu142Gly Polymorphism rs17850770 -
CPT1A P50416 VAR_020546 p.Arg123Cys Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_020547 p.Ala275Thr Polymorphism rs2229738 -
CPT1A P50416 VAR_020548 p.Cys304Trp Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_020549 p.Thr314Ile Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_020550 p.Arg357Trp Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_020551 p.Glu360Gly Disease rs28936372 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_020553 p.Ala414Val Disease rs28936373 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_020554 p.Asp454Gly Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_020555 p.Pro479Leu Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_020556 p.Leu484Pro Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_020557 p.Tyr498Cys Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_020558 p.Gly709Glu Disease rs28936374 Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_020559 p.Gly710Glu Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_046767 p.Arg316Gly Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_046768 p.Phe343Val Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1A P50416 VAR_046769 p.Gly465Trp Disease - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
CPT1B Q92523 VAR_011739 p.Glu531Lys Polymorphism rs470117 -
CPT1B Q92523 VAR_011740 p.Ser664Tyr Polymorphism rs1804702 -
CPT1B Q92523 VAR_020029 p.Ile66Val Polymorphism rs3213445 -
CPT1B Q92523 VAR_021854 p.Gly320Asp Polymorphism rs2269383 -
CPT1B Q92523 VAR_024188 p.Ser427Cys Polymorphism rs8142477 -
CPT2 P23786 VAR_001391 p.Pro50His Disease rs28936674 Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_001392 p.Ser113Leu Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_001393 p.Glu174Lys Disease rs28936674 Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_001394 p.Phe352Cys Polymorphism rs2229291 -
CPT2 P23786 VAR_001395 p.Val368Ile Polymorphism rs1799821 -
CPT2 P23786 VAR_001396 p.Phe383Tyr Disease rs28936673 Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_001397 p.Asp553Asn Disease rs28936376 Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_001398 p.Tyr628Ser Disease rs28936673 Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_001399 p.Arg631Cys Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_001400 p.Met647Val Polymorphism rs1799822 -
CPT2 P23786 VAR_007966 p.Met214Thr Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_007967 p.Pro227Leu Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_007968 p.Phe448Leu Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_007969 p.Tyr479Phe Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_007970 p.Arg503Cys Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_007971 p.Gly549Asp Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_011741 p.Ser588Cys Polymorphism rs1871748 -
CPT2 P23786 VAR_020540 p.Arg151Gln Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_020541 p.Tyr210Asp Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_020542 p.Arg296Gln Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_020543 p.Gln550Arg Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_020544 p.Gly600Arg Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_020545 p.Pro604Ser Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_037976 p.Asp213Gly Disease - Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]
CPT2 P23786 VAR_066567 p.Pro504Leu Unclassified - -
CPT2 P23786 VAR_066568 p.Val605Leu Unclassified - -
CPVL Q9H3G5 VAR_022612 p.Ala435Val Polymorphism rs7313 -
CPVL Q9H3G5 VAR_048681 p.Ser11Leu Polymorphism rs36074676 -
CPVL Q9H3G5 VAR_048682 p.Arg25His Polymorphism rs34219043 -
CPVL Q9H3G5 VAR_048683 p.Arg398His Polymorphism rs1052200 -
CPXCR1 Q8N123 VAR_035218 p.Tyr3Ser Polymorphism rs5940915 -
CPXCR1 Q8N123 VAR_035219 p.Arg131His Polymorphism rs5984611 -
CPXM2 Q8N436 VAR_048603 p.Gln750Arg Polymorphism rs7088479 -
CPZ Q66K79 VAR_027883 p.Leu5Pro Polymorphism rs2302583 -
CPZ Q66K79 VAR_027884 p.Thr501Met Polymorphism rs9991535 -
CPZ Q66K79 VAR_047244 p.Pro6Leu Polymorphism rs34964084 -
CPZ Q66K79 VAR_047245 p.Gln130Leu Polymorphism rs35993494 -
CPZ Q66K79 VAR_047246 p.Ile486Thr Polymorphism rs7378066 -
CR1 P17927 VAR_013819 p.His1208Arg Polymorphism rs2274567 -
CR1 P17927 VAR_013820 p.Thr1408Ile Polymorphism - -
CR1 P17927 VAR_013821 p.Lys1590Glu Polymorphism rs17047660 -
CR1 P17927 VAR_013822 p.Arg1601Gly Polymorphism rs17047661 -
CR1 P17927 VAR_013823 p.Ser1610Thr Polymorphism rs4844609 -
CR1 P17927 VAR_013824 p.Ile1615Val Polymorphism rs6691117 -
CR1 P17927 VAR_013825 p.Pro1827Arg Polymorphism rs3811381 -
CR1 P17927 VAR_013826 p.His1850Asp Polymorphism - -
CR1 P17927 VAR_020263 p.Thr1408Met Polymorphism rs3737002 -
CR1 P17927 VAR_055685 p.Asn1540Ser Polymorphism rs17259045 -
CR1 P17927 VAR_055686 p.Thr1969Ala Polymorphism rs2296160 -
CR1L Q2VPA4 VAR_038677 p.Arg116Gly Polymorphism rs2296158 -
CR1L Q2VPA4 VAR_038678 p.Ile139Val Polymorphism rs3085 -
CR1L Q2VPA4 VAR_038679 p.Asn402Asp Polymorphism rs12729569 -
CR1L Q2VPA4 VAR_038680 p.Ile455Val Polymorphism rs6683902 -
CR1L Q2VPA4 VAR_038681 p.Leu491Pro Polymorphism rs2796257 -
CR2 P20023 VAR_016164 p.Ser639Asn Polymorphism rs17615 -
CR2 P20023 VAR_016165 p.Ile993Val Polymorphism rs17258982 -
CR2 P20023 VAR_016166 p.Ala1003Glu Polymorphism rs6540433 -
CRAT P43155 VAR_047780 p.Leu372Met Polymorphism rs3118635 -
CRAT P43155 VAR_047781 p.Ala624Pro Polymorphism rs17459086 -
CRB1 P82279 VAR_011641 p.Ala161Val Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_011642 p.Cys250Trp Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_011643 p.Thr745Met Disease rs28939720 Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_011644 p.Arg764Cys Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_011644 p.Arg764Cys Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_011645 p.Cys948Tyr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_011645 p.Cys948Tyr Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_011646 p.Met1041Thr Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_011647 p.Leu1071Pro Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_011648 p.Ile1100Arg Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_011649 p.Cys1181Arg Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022941 p.Phe144Val Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022942 p.Val162Met Disease - Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870]
CRB1 P82279 VAR_022943 p.Cys195Phe Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022944 p.Ile205Thr Polymorphism - -
CRB1 P82279 VAR_022945 p.Thr289Met Polymorphism - -
CRB1 P82279 VAR_022946 p.Cys383Tyr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022947 p.Tyr433Cys Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022948 p.Cys480Gly Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022949 p.Cys480Arg Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022950 p.Val578Glu Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022951 p.Asp584Tyr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022952 p.Cys587Tyr Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022953 p.Gln679Glu Polymorphism - -
CRB1 P82279 VAR_022954 p.Cys681Tyr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022955 p.Glu710Gln Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022956 p.Met741Thr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022958 p.Arg769His Polymorphism - -
CRB1 P82279 VAR_022959 p.Arg769Gln Polymorphism - -
CRB1 P82279 VAR_022960 p.Pro836Thr Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022961 p.Asp837His Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022962 p.Gly846Arg Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022963 p.Gly850Ser Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022964 p.Ile852Thr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022965 p.Cys891Gly Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022966 p.Asn894Ser Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022967 p.Arg905Gln Polymorphism - -
CRB1 P82279 VAR_022968 p.Gly959Ser Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022970 p.Asn986Ile Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022971 p.Ile989Thr Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022972 p.Ser1025Ile Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022973 p.Ile1100Thr Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022974 p.Gly1103Arg Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022974 p.Gly1103Arg Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022975 p.Leu1107Pro Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022976 p.Leu1107Arg Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022977 p.Gly1205Arg Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022978 p.Cys1218Phe Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022979 p.Asn1317His Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022980 p.Cys1321Ser Disease - Leber congenital amaurosis type 8 (LCA8) [MIM:613835]
CRB1 P82279 VAR_022981 p.Arg1331His Polymorphism - -
CRB1 P82279 VAR_022982 p.Ala1354Thr Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_022983 p.Arg1383His Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_064180 p.Cys27Phe Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB1 P82279 VAR_064181 p.Cys1165Trp Disease - Retinitis pigmentosa type 12 (RP12) [MIM:600105]
CRB2 Q5IJ48 VAR_022984 p.Pro46Leu Polymorphism - -
CRB2 Q5IJ48 VAR_022985 p.Val97Leu Polymorphism - -
CRB2 Q5IJ48 VAR_022986 p.Pro116Leu Polymorphism - -
CRB2 Q5IJ48 VAR_022987 p.Met145Thr Polymorphism rs1105223 -
CRB2 Q5IJ48 VAR_022988 p.Gly159Ala Polymorphism rs1105222 -
CRB2 Q5IJ48 VAR_022989 p.Glu187Asp Polymorphism - -
CRB2 Q5IJ48 VAR_022990 p.Ala351Thr Polymorphism - -
CRB2 Q5IJ48 VAR_022991 p.Arg534Gln Polymorphism - -
CRB2 Q5IJ48 VAR_022992 p.Arg610Trp Polymorphism - -
CRB2 Q5IJ48 VAR_022993 p.His746Gln Polymorphism - -
CRB2 Q5IJ48 VAR_022994 p.Thr1110Met Polymorphism - -
CRB2 Q5IJ48 VAR_048974 p.Thr90Asn Polymorphism rs2808415 -
CRB2 Q5IJ48 VAR_061153 p.Val709Ala Polymorphism rs2488602 -
CRCT1 Q9UGL9 VAR_050906 p.Cys96Tyr Polymorphism rs16834168 -
CREB3L1 Q96BA8 VAR_032392 p.Ala411Thr Polymorphism rs35652107 -
CREB3L2 Q70SY1 VAR_062386 p.Val130Ile Polymorphism rs273957 -
CREB3L4 Q8TEY5 VAR_048444 p.Pro95Ser Polymorphism rs11264743 -
CREBBP Q92793 VAR_015578 p.Arg1378Pro Disease - Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
CREBBP Q92793 VAR_027953 p.Val1414Ile Polymorphism rs130015 -
CREBBP Q92793 VAR_035080 p.Glu1278Lys Disease - Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
CREBBP Q92793 VAR_035081 p.Thr1447Ile Disease - Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
CREBBP Q92793 VAR_035082 p.Tyr1450His Disease - Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
CREBBP Q92793 VAR_035083 p.His1470Arg Disease - Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
CREBBP Q92793 VAR_035084 p.Arg1664His Disease - Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
CREBBP Q92793 VAR_037305 p.Tyr1175Cys Disease rs28937315 Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]
CREG2 Q8IUH2 VAR_021252 p.Pro96Gln Polymorphism rs11554173 -
CRELD1 Q96HD1 VAR_023764 p.Arg107His Polymorphism rs28941780 -
CRELD1 Q96HD1 VAR_023765 p.Pro162Ala Unclassified - -
CRELD1 Q96HD1 VAR_023766 p.Thr311Ile Polymorphism rs28942092 -
CRELD1 Q96HD1 VAR_023767 p.Arg329Cys Polymorphism rs28942091 -
CRELD1 Q96HD1 VAR_046653 p.Met13Val Polymorphism rs279552 -
CRELD1 Q96HD1 VAR_046654 p.Pro128Arg Polymorphism rs2302787 -
CRELD2 Q6UXH1 VAR_028892 p.Asp182Glu Polymorphism rs8139422 -
CRELD2 Q6UXH1 VAR_028893 p.Ser295Ala Polymorphism rs11545762 -
CRELD2 Q6UXH1 VAR_028894 p.Glu325Gly Polymorphism rs11545763 -
CREM Q03060 VAR_055561 p.Gln270Arg Polymorphism rs1804604 -
CRHR2 Q13324 VAR_049455 p.Glu220Asp Polymorphism rs34625936 -
CRIM1 Q9NZV1 VAR_050907 p.Glu502Lys Polymorphism rs12997487 -
CRIM1 Q9NZV1 VAR_061625 p.Val781Ile Polymorphism rs59929305 -
CRIPAK Q8N1N5 VAR_038794 p.Cys89Tyr Polymorphism rs13097 -
CRIPAK Q8N1N5 VAR_038795 p.His95Pro Polymorphism rs9328733 -
CRIPAK Q8N1N5 VAR_050908 p.Val120Met Polymorphism rs13097 -
CRIPAK Q8N1N5 VAR_061628 p.His95Arg Polymorphism rs9328733 -
CRISP2 P16562 VAR_048832 p.Asn131Ser Polymorphism rs34457011 -
CRISP3 P54108 VAR_011718 p.Ser106Pro Polymorphism rs495335 -
CRISP3 P54108 VAR_011719 p.Ala134Ser Polymorphism rs1864312 -
CRISPLD1 Q9H336 VAR_027255 p.Ala286Ser Polymorphism rs1945 -
CRISPLD2 Q9H0B8 VAR_027256 p.Ser105Gly Polymorphism rs12051468 -
CRISPLD2 Q9H0B8 VAR_027257 p.Thr322Ser Polymorphism rs721005 -
CRLF1 O75462 VAR_017865 p.Arg81His Disease - Cold-induced sweating syndrome type 1 (CISS1) [MIM:272430]
CRLF1 O75462 VAR_017866 p.Leu374Arg Disease - Cold-induced sweating syndrome type 1 (CISS1) [MIM:272430]
CRLF1 O75462 VAR_028355 p.Arg176Lys Polymorphism rs11672248 -
CRLF1 O75462 VAR_033113 p.Trp76Gly Disease - Crisponi syndrome (CRISPS) [MIM:601378]
CRLF3 Q8IUI8 VAR_032539 p.Leu389Pro Polymorphism rs11867457 -
CRLF3 Q8IUI8 VAR_049180 p.Val202Met Polymorphism rs3764418 -
CRMP1 Q14194 VAR_037745 p.Val461Ile Polymorphism rs34611001 -
CRNKL1 Q9BZJ0 VAR_024995 p.Gly35Arg Polymorphism rs7508949 -
CRNKL1 Q9BZJ0 VAR_049318 p.Phe51Leu Polymorphism rs2273058 -
CRNKL1 Q9BZJ0 VAR_049319 p.Gln111His Polymorphism rs2255258 -
CRNKL1 Q9BZJ0 VAR_049320 p.Thr158Ala Polymorphism rs2255255 -
CRNKL1 Q9BZJ0 VAR_049321 p.Val843Ile Polymorphism rs35201190 -
CRNN Q9UBG3 VAR_048469 p.Ala27Val Polymorphism rs35639220 -
CRNN Q9UBG3 VAR_048470 p.Gln374His Polymorphism rs6695830 -
CRNN Q9UBG3 VAR_048471 p.Gly480Ser Polymorphism rs3829868 -
CROCC Q5TZA2 VAR_059628 p.Ala439Val Polymorphism rs4463721 -
CROCC Q5TZA2 VAR_059629 p.Asp586His Polymorphism rs9435714 -
CROCC Q5TZA2 VAR_059630 p.Arg1097Pro Polymorphism rs6669627 -
CROCC Q5TZA2 VAR_061626 p.Arg7Gly Polymorphism rs6586566 -
CROCC Q5TZA2 VAR_061627 p.Arg372Gln Polymorphism rs57442576 -
CROT Q9UKG9 VAR_048612 p.Arg94His Polymorphism rs3827653 -
CROT Q9UKG9 VAR_048613 p.Val474Leu Polymorphism rs7785206 -
CRTAC1 Q9NQ79 VAR_048972 p.Ala253Thr Polymorphism rs35853031 -
CRTAC1 Q9NQ79 VAR_048973 p.Val569Met Polymorphism rs2297935 -
CRTAC1 Q9NQ79 VAR_061152 p.Glu658Lys Polymorphism rs56007204 -
CRTAM O95727 VAR_032999 p.Lys321Arg Polymorphism rs2272094 -
CRTAM O95727 VAR_033000 p.Ala368Gly Polymorphism rs1916036 -
CRTAM O95727 VAR_049868 p.Glu16Ala Polymorphism rs35411582 -
CRTAM O95727 VAR_049869 p.Ala78Asp Polymorphism rs34397316 -
CRTAM O95727 VAR_049870 p.Asp173Gly Polymorphism rs35136295 -
CRTAP O75718 VAR_032846 p.Glu137Asp Polymorphism rs17850371 -
CRTAP O75718 VAR_053050 p.Leu261Val Polymorphism rs1135127 -
CRTAP O75718 VAR_054442 p.Leu67Pro Disease - Osteogenesis imperfecta type 7 (OI7) [MIM:610682]
CRTAP O75718 VAR_063599 p.Ala13Glu Disease - Osteogenesis imperfecta type 7 (OI7) [MIM:610682]
CRTAP O75718 VAR_063600 p.Lys157Glu Disease - Osteogenesis imperfecta type 7 (OI7) [MIM:610682]
CRTC1 Q6UUV9 VAR_053934 p.Thr286Ala Polymorphism rs3746266 -
CRTC1 Q6UUV9 VAR_053935 p.Val311Ile Polymorphism rs36070283 -
CRTC1 Q6UUV9 VAR_053936 p.Thr328Ala Polymorphism rs3746266 -
CRTC2 Q53ET0 VAR_038756 p.Met147Val Polymorphism rs11264680 -
CRTC2 Q53ET0 VAR_038757 p.Arg379Cys Polymorphism - -
CRTC3 Q6UUV7 VAR_038758 p.Ser72Asn Polymorphism rs8033595 -
CRTC3 Q6UUV7 VAR_038759 p.Leu346Ser Polymorphism - -
CRX O43186 VAR_003750 p.Arg41Trp Disease - Cone-rod dystrophy type 2 (CORD2) [MIM:120970]
CRX O43186 VAR_003751 p.Glu80Ala Disease rs28939682 Cone-rod dystrophy type 2 (CORD2) [MIM:120970]
CRX O43186 VAR_007946 p.Arg41Gln Disease - Retinitis pigmentosa (RP) [MIM:268000]
CRX O43186 VAR_007948 p.Ala158Thr Polymorphism - -
CRX O43186 VAR_007949 p.Val242Met Disease - Cone-rod dystrophy type 2 (CORD2) [MIM:120970]
CRX O43186 VAR_008282 p.Gly122Asp Disease - Retinitis pigmentosa (RP) [MIM:268000]
CRX O43186 VAR_008714 p.Arg90Trp Disease - Leber congenital amaurosis type 7 (LCA7) [MIM:613829]
CRX O43186 VAR_036438 p.Ser141Phe Unclassified - A breast cancer sample
CRX O43186 VAR_063919 p.Lys88Asn Disease - Leber congenital amaurosis type 7 (LCA7) [MIM:613829]
CRYAA P02489 VAR_003819 p.Arg116Cys Disease - Cataract autosomal dominant (ADC) [MIM:604219]
CRYAA P02489 VAR_036564 p.Asp105His Unclassified - A breast cancer sample
CRYAA P02489 VAR_038375 p.Arg49Cys Disease - Cataract autosomal dominant (ADC) [MIM:604219]
CRYAA P02489 VAR_046892 p.Arg21Leu Unclassified - -
CRYAA P02489 VAR_046893 p.Arg116His Disease - Cataract autosomal dominant (ADC) [MIM:604219]
CRYAB P02511 VAR_007899 p.Arg120Gly Disease rs28929489 Myopathy myofibrillar type 2 (MFM2) [MIM:608810]
CRYAB P02511 VAR_014607 p.Ser41Tyr Polymorphism rs2234703 -
CRYAB P02511 VAR_014608 p.Pro51Leu Polymorphism rs2234704 -
CRYBA4 P53673 VAR_014903 p.Thr84Met Polymorphism rs4277 -
CRYBA4 P53673 VAR_029528 p.Leu69Pro Disease - Microphthalmia isolated with cataract type 4 (MCOPCT4) [MIM:610426]
CRYBA4 P53673 VAR_029529 p.Phe94Ser Disease - Cataract zonular type 2 (CZ2) [MIM:610425]
CRYBA4 P53673 VAR_033824 p.Val36Met Polymorphism rs35520672 -
CRYBB1 P53674 VAR_065296 p.Ser129Arg Disease - Cataract-microcornea syndrome (CAMIS) [MIM:116150]
CRYBB2 P43320 VAR_038431 p.Ala65Ser Polymorphism rs16986560 -
CRYBB3 P26998 VAR_025277 p.Arg105Gln Polymorphism rs17670506 -
CRYBB3 P26998 VAR_025278 p.His113Asp Polymorphism rs9608378 -
CRYBB3 P26998 VAR_025279 p.Val159Ile Polymorphism rs4455261 -
CRYBB3 P26998 VAR_025280 p.Gly165Arg Disease - Cataract congenital nuclear autosomal recessive type 2 (CATCN2) [MIM:609741]
CRYBG3 Q68DQ2 VAR_039906 p.Arg433His Polymorphism rs11918990 -
CRYBG3 Q68DQ2 VAR_039907 p.Tyr761Cys Polymorphism rs17302349 -
CRYBG3 Q68DQ2 VAR_039908 p.Asn926His Polymorphism rs4857302 -
CRYGA P11844 VAR_021139 p.Pro148Leu Polymorphism - -
CRYGB P07316 VAR_021140 p.Ser73Ile Polymorphism - -
CRYGB P07316 VAR_021141 p.Ile111Leu Polymorphism rs796287 -
CRYGB P07316 VAR_029517 p.Arg90Thr Polymorphism rs2241980 -
CRYGC P07315 VAR_021142 p.Thr5Pro Disease - Cataract Coppock-like (CCL) [MIM:604307]
CRYGC P07315 VAR_021143 p.Arg48His Polymorphism - -
CRYGC P07315 VAR_021144 p.Arg169Trp Disease - Cataract autosomal dominant (ADC) [MIM:604219]
CRYGC P07315 VAR_038432 p.Phe6Leu Polymorphism rs2242072 -
CRYGD P07320 VAR_010733 p.Arg15Cys Disease - Cataract autosomal dominant (ADC) [MIM:604219]
CRYGD P07320 VAR_010734 p.Arg37Ser Unclassified - -
CRYGD P07320 VAR_010735 p.Arg59His Disease - Cataract crystalline aculeiform (CACA) [MIM:115700]
CRYGD P07320 VAR_021145 p.Pro24Thr Disease - Cataract congenital cerulean type 3 (CCA3) [MIM:608983]
CRYGD P07320 VAR_021146 p.Met102Val Polymorphism - -
CRYGD P07320 VAR_034955 p.Pro24Ser Disease rs28931605 Cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:601286]
CRYGD P07320 VAR_034956 p.Glu107Ala Disease - Cataract congenital non-nuclear polymorphic autosomal dominant (CCP) [MIM:601286]
CRYGD P07320 VAR_064829 p.Trp43Arg Disease - Cataract autosomal dominant (ADC) [MIM:604219]
CRYZ Q08257 VAR_022913 p.Pro66Ser Polymorphism rs11551729 -
CRYZ Q08257 VAR_022914 p.Ile176Val Polymorphism rs3819946 -
CRYZ Q08257 VAR_048200 p.Glu183Lys Polymorphism rs17095822 -
CRYZL1 O95825 VAR_027835 p.Ala39Thr Polymorphism rs13050238 -
CSAG1 Q6PB30 VAR_032868 p.Tyr28Phe Polymorphism rs1894359 -
CSAG1 Q6PB30 VAR_047336 p.Lys62Arg Polymorphism rs2515848 -
CSDA P16989 VAR_013114 p.Thr75Ala Polymorphism rs1126501 -
CSE1L P55060 VAR_029327 p.Ile754Val Polymorphism rs2229042 -
CSE1L P55060 VAR_036558 p.Cys842Phe Unclassified - A colorectal cancer sample
CSE1L P55060 VAR_048836 p.Val968Leu Polymorphism rs3505 -
CSF1 P09603 VAR_020454 p.Leu408Pro Polymorphism rs1058885 -
CSF1 P09603 VAR_020455 p.Ser496Phe Polymorphism - -
CSF1 P09603 VAR_022146 p.Ala531Val Polymorphism rs2229167 -
CSF1 P09603 VAR_029320 p.Gly438Arg Polymorphism rs2229165 -
CSF1 P09603 VAR_048810 p.Ser341Asn Polymorphism rs12565736 -
CSF1 P09603 VAR_048811 p.Phe489Ser Polymorphism rs333971 -
CSF1R P07333 VAR_011953 p.Tyr969Cys Polymorphism rs1801271 -
CSF1R P07333 VAR_042038 p.Val32Gly Polymorphism rs56048668 -
CSF1R P07333 VAR_042039 p.His362Arg Polymorphism rs10079250 -
CSF1R P07333 VAR_042040 p.Gly413Ser Polymorphism rs34951517 -
CSF1R P07333 VAR_042041 p.Leu536Val Polymorphism rs55942044 -
CSF1R P07333 VAR_042042 p.Pro693His Unclassified - A lung squamous cell carcinoma sample
CSF1R P07333 VAR_042043 p.Glu920Asp Polymorphism rs34030164 -
CSF1R P07333 VAR_042044 p.Arg921Gln Polymorphism rs56059682 -
CSF1R P07333 VAR_049718 p.Val279Met Polymorphism rs3829986 -
CSF1R P07333 VAR_061290 p.Ala245Ser Polymorphism rs41338945 -
CSF2 P04141 VAR_001975 p.Ile117Thr Polymorphism rs25882 -
CSF2 P04141 VAR_013089 p.Thr115Ile Polymorphism rs2069640 -
CSF2RA P15509 VAR_058507 p.Gly196Arg Disease - Pulmonary surfactant metabolism dysfunction type 4 (SMDP4) [MIM:300770]
CSF2RB P32927 VAR_014801 p.Pro603Thr Polymorphism rs1801122 -
CSF2RB P32927 VAR_014802 p.Gly647Val Polymorphism rs1801115 -
CSF2RB P32927 VAR_014803 p.Val652Met Polymorphism rs1801114 -
CSF2RB P32927 VAR_042521 p.Glu249Gln Polymorphism rs16845 -
CSF2RB P32927 VAR_042522 p.Pro696Ser Polymorphism rs16997517 -
CSF3 P09919 VAR_013073 p.Leu157Met Polymorphism rs2227329 -
CSF3 P09919 VAR_013074 p.Ala174Thr Polymorphism rs2227330 -
CSF3R Q99062 VAR_014325 p.Met231Thr Polymorphism rs3917973 -
CSF3R Q99062 VAR_014326 p.Asp320Asn Polymorphism rs3918018 -
CSF3R Q99062 VAR_014327 p.Gln346Arg Polymorphism rs3917974 -
CSF3R Q99062 VAR_014328 p.Glu405Lys Polymorphism rs3918019 -
CSF3R Q99062 VAR_014329 p.Arg440Gln Polymorphism rs3918020 -
CSF3R Q99062 VAR_014330 p.Asp510His Polymorphism rs3917991 -
CSF3R Q99062 VAR_014331 p.Tyr562His Polymorphism rs3917996 -
CSF3R Q99062 VAR_014332 p.Arg583Cys Polymorphism rs3917997 -
CSF3R Q99062 VAR_062517 p.Pro229His Unclassified - -
CSF3R Q99062 VAR_063065 p.Thr640Asn Disease - Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830]
CSGALNACT Q8N6G5 VAR_048715 p.Glu215Lys Polymorphism rs11238456 -
CSGALNACT Q8N6G5 VAR_048716 p.Pro479Ser Polymorphism rs2435381 -
CSGALNACT Q8TDX6 VAR_055647 p.Val137Ile Polymorphism rs17128518 -
CSGALNACT Q8TDX6 VAR_055648 p.Phe473Tyr Polymorphism rs17128366 -
CSGALNACT Q8TDX6 VAR_060391 p.Ser193Asn Polymorphism rs7017776 -
CSH1 P01243 VAR_007166 p.Pro3Ala Polymorphism rs1130686 -
CSHL1 Q14406 VAR_059807 p.Asp141Glu Polymorphism rs2727307 -
CSK P41240 VAR_025203 p.Gly287Asp Polymorphism rs34866753 -
CSK P41240 VAR_025204 p.Arg398Gln Polymorphism rs34616395 -
CSK P41240 VAR_025205 p.His442Arg Polymorphism rs35556162 -
CSK P41240 VAR_041678 p.Pro45Leu Polymorphism - -
CSMD1 Q96PZ7 VAR_056846 p.Gly3312Trp Polymorphism rs34079122 -
CSMD1 Q96PZ7 VAR_059634 p.Met2041Ile Polymorphism rs6995799 -
CSMD1 Q96PZ7 VAR_059635 p.Gln3370His Polymorphism rs34337712 -
CSMD1 Q96PZ7 VAR_059636 p.Ser3479Asn Polymorphism rs11984691 -
CSMD2 Q7Z408 VAR_024330 p.His538Arg Polymorphism rs474474 -
CSMD2 Q7Z408 VAR_028081 p.Leu167Pro Polymorphism rs16836099 -
CSMD2 Q7Z408 VAR_028082 p.Arg2096Lys Polymorphism rs1874045 -
CSMD2 Q7Z408 VAR_028083 p.Ala2117Val Polymorphism rs11588581 -
CSMD2 Q7Z408 VAR_028084 p.Met2554Val Polymorphism rs2641962 -
CSMD2 Q7Z408 VAR_028085 p.Leu2661Arg Polymorphism rs3820206 -
CSMD2 Q7Z408 VAR_028086 p.Ser3406Phe Polymorphism rs1617468 -
CSMD2 Q7Z408 VAR_050917 p.Leu2661Val Polymorphism rs34850622 -
CSMD3 Q7Z407 VAR_017404 p.Ile219Met Polymorphism rs2219898 -
CSMD3 Q7Z407 VAR_017405 p.Val3000Leu Polymorphism rs2193430 -
CSMD3 Q7Z407 VAR_017406 p.Asn3621His Polymorphism rs1592624 -
CSMD3 Q7Z407 VAR_035688 p.Trp322Gly Unclassified - A colorectal cancer sample
CSMD3 Q7Z407 VAR_035689 p.Arg3079His Unclassified - A colorectal cancer sample
CSMD3 Q7Z407 VAR_035690 p.Arg3359Gln Unclassified - A colorectal cancer sample
CSMD3 Q7Z407 VAR_064703 p.Ser2020Cys Unclassified - -
CSN1S1 P47710 VAR_048614 p.Ala117Val Polymorphism rs10030475 -
CSN3 P07498 VAR_026338 p.Tyr75Cys Polymorphism rs17850702 -
CSN3 P07498 VAR_026339 p.Arg110Leu Polymorphism rs1048152 -
CSN3 P07498 VAR_026340 p.Ala145Thr Polymorphism rs3775739 -
CSNK1A1 P48729 VAR_042073 p.Asp297His Unclassified - A breast pleomorphic lobular carcinoma sample
CSNK1A1L Q8N752 VAR_034047 p.Arg170Ser Polymorphism rs17773251 -
CSNK1A1L Q8N752 VAR_036450 p.Arg21Gln Unclassified rs56158728 A colorectal cancer sample
CSNK1A1L Q8N752 VAR_042074 p.Ser5Gly Polymorphism rs56224973 -
CSNK1A1L Q8N752 VAR_042075 p.Arg21Trp Polymorphism - -
CSNK1A1L Q8N752 VAR_042076 p.Asp42Glu Polymorphism rs9576175 -
CSNK1A1L Q8N752 VAR_042077 p.Glu177Lys Polymorphism rs17054882 -
CSNK1A1L Q8N752 VAR_042078 p.Pro220Leu Polymorphism rs56252856 -
CSNK1A1L Q8N752 VAR_042079 p.Lys230Asn Polymorphism rs56252523 -
CSNK1A1L Q8N752 VAR_042080 p.Ala257Thr Polymorphism rs55895045 -
CSNK1D P48730 VAR_029075 p.Thr44Ala Disease - Familial advanced sleep-phase syndrome (FASPS) [MIM:604348]
CSNK1D P48730 VAR_036451 p.Ser97Cys Unclassified - Breast cancer samples
CSNK1D P48730 VAR_042081 p.Pro401Ala Polymorphism rs56124628 -
CSNK1E P49674 VAR_042082 p.Arg256Leu Unclassified - A lung adenocarcinoma sample
CSNK1E P49674 VAR_042083 p.His413Arg Polymorphism rs35665927 -
CSNK1G1 Q9HCP0 VAR_042084 p.Arg206Lys Polymorphism rs55799101 -
CSNK1G1 Q9HCP0 VAR_042085 p.Val329Ile Polymorphism rs55699712 -
CSNK1G2 P78368 VAR_042086 p.Phe189Leu Polymorphism - -
CSNK1G2 P78368 VAR_042087 p.Glu194Gly Polymorphism - -
CSNK1G2 P78368 VAR_042088 p.Ile196Thr Polymorphism - -
CSNK1G2 P78368 VAR_042089 p.Tyr206Cys Polymorphism - -
CSNK1G2 P78368 VAR_042090 p.Tyr206His Polymorphism - -
CSNK1G2 P78368 VAR_042091 p.Arg207Ser Polymorphism - -
CSNK1G2 P78368 VAR_042092 p.Glu208Gln Polymorphism - -
CSNK1G2 P78368 VAR_042093 p.Arg217Cys Polymorphism - -
CSNK1G2 P78368 VAR_042094 p.Thr223Met Polymorphism - -
CSNK2A2 P19784 VAR_040416 p.Glu188Ala Polymorphism rs55911801 -
CSPG4 Q6UVK1 VAR_061733 p.Arg1703His Polymorphism rs8023621 -
CSPG4P5 Q96PW8 VAR_039011 p.Val431Ile Polymorphism rs468120 -
CSPG5 O95196 VAR_055089 p.Gly188Val Polymorphism rs3732530 -
CSPG5 O95196 VAR_055090 p.Thr417Pro Polymorphism rs34016925 -
CSPP1 Q1MSJ5 VAR_033045 p.Arg907His Polymorphism rs16933182 -
CSPP1 Q1MSJ5 VAR_047014 p.Trp1135Arg Polymorphism rs1808140 -
CSRNP1 Q96S65 VAR_055100 p.Val453Ile Polymorphism rs1274958 -
CSRNP2 Q9H175 VAR_053016 p.Thr436Met Polymorphism rs11542510 -
CSRNP3 Q8WYN3 VAR_035993 p.Pro474Leu Unclassified - A colorectal cancer sample
CSRP1 P21291 VAR_050144 p.Lys108Ile Polymorphism rs3738283 -
CSRP2BP Q9H8E8 VAR_020466 p.Arg442Thr Polymorphism rs2295182 -
CSRP2BP Q9H8E8 VAR_028034 p.Pro214Leu Polymorphism rs6081011 -
CSRP2BP Q9H8E8 VAR_028035 p.Val400Gly Polymorphism rs1205193 -
CSRP2BP Q9H8E8 VAR_033839 p.Pro600Arg Polymorphism rs11557577 -
CSRP2BP Q9H8E8 VAR_048166 p.Ala738Ser Polymorphism rs6081027 -
CSRP3 P50461 VAR_015401 p.Trp4Arg Disease rs45550635 Cardiomyopathy dilated type 1M (CMD1M) [MIM:607482]
CSRP3 P50461 VAR_045932 p.Leu44Pro Disease - Familial hypertrophic cardiomyopathy type 12 (CMH12) [MIM:612124]
CSRP3 P50461 VAR_045934 p.Cys58Gly Disease - Familial hypertrophic cardiomyopathy type 12 (CMH12) [MIM:612124]
CST1 P01037 VAR_028932 p.Tyr4His Polymorphism rs6076122 -
CST1 P01037 VAR_028933 p.Pro31Leu Polymorphism rs2070856 -
CST1 P01037 VAR_028934 p.Asn129Asp Polymorphism rs3188319 -
CST1 P01037 VAR_028935 p.Arg131Met Polymorphism rs3188320 -
CST1 P01037 VAR_028936 p.Lys135Asn Polymorphism rs3188322 -
CST3 P01034 VAR_002207 p.Leu94Gln Disease rs28939068 Amyloidosis type 6 (AMYL6) [MIM:105150]
CST3 P01034 VAR_011893 p.Ala25Thr Polymorphism rs1064039 -
CST4 P01036 VAR_036549 p.Thr77Asn Unclassified - A breast cancer sample
CST4 P01036 VAR_048852 p.Asp36Asn Polymorphism rs3210291 -
CST5 P28325 VAR_002208 p.Cys46Arg Polymorphism rs1799841 -
CST8 O60676 VAR_014527 p.Ala142Pro Polymorphism rs1054633 -
CST8 O60676 VAR_061130 p.Ala52Val Polymorphism rs35190670 -
CST9 Q5W186 VAR_038045 p.Leu48Phe Polymorphism rs2983640 -
CST9L Q9H4G1 VAR_022079 p.His109Pro Polymorphism rs2295564 -
CSTA P01040 VAR_048851 p.Thr96Met Polymorphism rs34173813 -
CSTB P04080 VAR_002206 p.Gly4Arg Disease - Progressive myoclonic epilepsy type 1 (EPM1) [MIM:254800]
CSTL1 Q9H114 VAR_024425 p.Trp88Arg Polymorphism rs3746736 -
CSTL1 Q9H114 VAR_024426 p.Thr96Met Polymorphism rs3746737 -
CSTL1 Q9H114 VAR_033841 p.Thr59Ala Polymorphism rs7361799 -
CSTL1 Q9H114 VAR_033842 p.Tyr62Phe Polymorphism rs16985357 -
CSTL1 Q9H114 VAR_033843 p.Arg66Lys Polymorphism rs17757442 -
CTAG2 O75638 VAR_007855 p.Gln6Arg Polymorphism rs34402964 -
CTAG2 O75638 VAR_007856 p.Gln89Glu Polymorphism rs17328091 -
CTAG2 O75638 VAR_057512 p.Pro99Ala Polymorphism rs5987003 -
CTAGE1 Q96RT6 VAR_046956 p.Ile682Val Polymorphism rs9946136 -
CTAGE5 O15320 VAR_047889 p.Val6Ala Polymorphism rs7140561 -
CTAGE5 O15320 VAR_047890 p.Tyr11Asp Polymorphism rs17855895 -
CTAGE5 O15320 VAR_047891 p.Lys205Asn Polymorphism rs17855896 -
CTAGE5 O15320 VAR_047892 p.Lys250Glu Polymorphism rs10162564 -
CTAGE5 O15320 VAR_047893 p.Glu360Gln Polymorphism rs1950952 -
CTAGE5 O15320 VAR_047894 p.Asn375Ser Polymorphism rs17109109 -
CTAGE5 O15320 VAR_047895 p.Ile699Val Polymorphism rs1140952 -
CTAGE5 O15320 VAR_047896 p.Gly738Arg Polymorphism rs1060878 -
CTBP2 P56545 VAR_033844 p.Glu47Asp Polymorphism rs3198926 -
CTBS Q01459 VAR_020160 p.Asp310Tyr Polymorphism rs3768249 -
CTBS Q01459 VAR_049197 p.Val274Ile Polymorphism rs15911 -
CTC1 Q2NKJ3 VAR_032282 p.Ile820Val Polymorphism rs3027238 -
CTC1 Q2NKJ3 VAR_032283 p.Ile1005Val Polymorphism rs3826543 -
CTCF P49711 VAR_013141 p.Arg339Trp Unclassified - A Wilms' tumor
CTCF P49711 VAR_013142 p.Lys344Glu Unclassified - A breast tumor
CTCF P49711 VAR_013143 p.His345Arg Unclassified - A prostate tumor
CTCF P49711 VAR_013144 p.Arg448Gln Unclassified - A Wilms' tumor
CTCFL Q8NI51 VAR_023213 p.Glu50Gln Polymorphism rs6070128 -
CTCFL Q8NI51 VAR_023214 p.Thr177Ala Polymorphism rs6025606 -
CTCFL Q8NI51 VAR_032766 p.Gln525Glu Polymorphism rs6070122 -
CTCFL Q8NI51 VAR_057374 p.Arg448His Polymorphism rs6092491 -
CTDNEP1 O95476 VAR_034699 p.Thr12Ala Polymorphism rs3744399 -
CTDP1 Q9Y5B0 VAR_018264 p.Thr340Met Polymorphism rs2279103 -
CTDP1 Q9Y5B0 VAR_032763 p.Leu755Ser Polymorphism rs34967023 -
CTDP1 Q9Y5B0 VAR_060440 p.Ser282Phe Polymorphism rs4799078 -
CTDP1 Q9Y5B0 VAR_060441 p.Pro519His Polymorphism rs557503 -
CTDSP1 Q9GZU7 VAR_049054 p.Ala56Thr Polymorphism rs2227249 -
CTDSPL O15194 VAR_019683 p.Ser121Pro Polymorphism - -
CTDSPL O15194 VAR_019684 p.Asn127Ser Polymorphism - -
CTDSPL O15194 VAR_019685 p.Val132Gly Polymorphism - -
CTDSPL2 Q05D32 VAR_042886 p.Ala244Val Polymorphism rs871923 -
CTF1 Q16619 VAR_014938 p.Ala92Thr Polymorphism rs2234933 -
CTGF P29279 VAR_027925 p.His83Asp Polymorphism rs7451102 -
CTH P32929 VAR_015450 p.Thr67Ile Disease rs28941785 Cystathioninuria (CSTNU) [MIM:219500]
CTH P32929 VAR_015451 p.Gln240Glu Disease rs28941786 Cystathioninuria (CSTNU) [MIM:219500]
CTH P32929 VAR_015452 p.Ser403Ile Polymorphism rs1021737 -
CTHRC1 Q96CG8 VAR_066589 p.Gln44Pro Unclassified - -
CTIF O43310 VAR_020041 p.Pro82Leu Polymorphism rs2277712 -
CTIF O43310 VAR_035749 p.Val389Leu Unclassified - A breast cancer sample
CTIF O43310 VAR_035750 p.Met438Ile Unclassified - A breast cancer sample
CTLA4 P16410 VAR_013577 p.Thr17Ala Polymorphism rs231775 -
CTNNA1 P35221 VAR_022303 p.Ala179Val Polymorphism rs28363394 -
CTNNA1 P35221 VAR_022304 p.Pro219Ser Polymorphism rs28363406 -
CTNNA3 Q9UI47 VAR_053369 p.Ser596Asn Polymorphism rs4548513 -
CTNNA3 Q9UI47 VAR_062093 p.Arg535Cys Polymorphism rs41274090 -
CTNNAL1 Q9UBT7 VAR_020924 p.Asn91Thr Polymorphism rs28361109 -
CTNNAL1 Q9UBT7 VAR_020925 p.Glu203Lys Polymorphism rs28361118 -
CTNNAL1 Q9UBT7 VAR_020926 p.Glu527Gln Polymorphism rs7021366 -
CTNNAL1 Q9UBT7 VAR_020927 p.Ile593Asn Polymorphism rs28361167 -
CTNNAL1 Q9UBT7 VAR_020928 p.Met716Arg Polymorphism rs28361182 -
CTNNAL1 Q9UBT7 VAR_033845 p.Thr424Ser Polymorphism rs16913734 -
CTNNAL1 Q9UBT7 VAR_053370 p.Asp555Glu Polymorphism rs34922868 -
CTNNB1 P35222 VAR_017612 p.Ser23Arg Unclassified - Hepatocellular carcinoma
CTNNB1 P35222 VAR_017614 p.Asp32Ala Unclassified - Hepatocellular carcinoma
CTNNB1 P35222 VAR_017615 p.Asp32Gly Disease - Pilomatrixoma (PTR) [MIM:132600]
CTNNB1 P35222 VAR_017616 p.Asp32Tyr Disease rs28931588 Pilomatrixoma (PTR) [MIM:132600]
CTNNB1 P35222 VAR_017617 p.Ser33Phe Disease - Medulloblastoma (MDB) [MIM:155255]
CTNNB1 P35222 VAR_017617 p.Ser33Phe Disease - Pilomatrixoma (PTR) [MIM:132600]
CTNNB1 P35222 VAR_017618 p.Ser33Leu Unclassified - Hepatocellular carcinoma
CTNNB1 P35222 VAR_017619 p.Ser33Tyr Disease - Colorectal cancer (CRC) [MIM:114500]
CTNNB1 P35222 VAR_017619 p.Ser33Tyr Disease - Pilomatrixoma (PTR) [MIM:132600]
CTNNB1 P35222 VAR_017620 p.Gly34Glu Disease - Pilomatrixoma (PTR) [MIM:132600]
CTNNB1 P35222 VAR_017621 p.Gly34Arg Unclassified - Hepatocellular carcinoma
CTNNB1 P35222 VAR_017622 p.Gly34Val Polymorphism rs28931589 -
CTNNB1 P35222 VAR_017623 p.Ile35Ser Unclassified - Hepatocellular carcinoma
CTNNB1 P35222 VAR_017624 p.Ser37Ala Disease - Medulloblastoma (MDB) [MIM:155255]
CTNNB1 P35222 VAR_017625 p.Ser37Cys Disease - Ovarian cancer (OC) [MIM:167000]
CTNNB1 P35222 VAR_017625 p.Ser37Cys Disease - Pilomatrixoma (PTR) [MIM:132600]
CTNNB1 P35222 VAR_017626 p.Ser37Phe Disease - Pilomatrixoma (PTR) [MIM:132600]
CTNNB1 P35222 VAR_017627 p.Ser37Tyr Unclassified - Hepatocellular carcinoma
CTNNB1 P35222 VAR_017629 p.Thr41Ala Unclassified - Hepatocellular carcinoma
CTNNB1 P35222 VAR_017630 p.Thr41Ile Disease - Ovarian cancer (OC) [MIM:167000]
CTNNB1 P35222 VAR_017630 p.Thr41Ile Disease - Pilomatrixoma (PTR) [MIM:132600]
CTNNB1 P35222 VAR_017631 p.Ser45Phe Unclassified - Hepatocellular carcinoma
CTNNB1 P35222 VAR_017632 p.Ser45Pro Unclassified - Hepatocellular carcinoma
CTNNB1 P35222 VAR_018954 p.Met688Val Polymorphism rs4135384 -
CTNNBL1 Q8WYA6 VAR_059638 p.Asn507Asp Polymorphism rs4811236 -
CTNND1 O60716 VAR_020929 p.Tyr217Cys Polymorphism rs11570194 -
CTNND1 O60716 VAR_020930 p.Arg464Cys Polymorphism rs11570199 -
CTNND1 O60716 VAR_020931 p.Arg915Lys Polymorphism rs11570222 -
CTNND1 O60716 VAR_038255 p.Ser171Phe Polymorphism rs11229133 -
CTNND2 Q9UQB3 VAR_036162 p.Pro1159Ser Unclassified - A colorectal cancer sample
CTNND2 Q9UQB3 VAR_062270 p.Gly275Cys Polymorphism - -
CTNND2 Q9UQB3 VAR_062271 p.Ala482Thr Polymorphism - -
CTNND2 Q9UQB3 VAR_062272 p.Gly810Arg Polymorphism - -
CTNS O60931 VAR_010285 p.Val42Ile Polymorphism rs35086888 -
CTNS O60931 VAR_010286 p.Gly169Asp Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_010287 p.Lys280Arg Disease - Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
CTNS O60931 VAR_010288 p.Asn323Lys Disease - Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
CTNS O60931 VAR_010677 p.Ile133Phe Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_010678 p.Ser139Phe Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_010680 p.Leu158Pro Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_010681 p.Trp182Arg Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_010682 p.Gly197Arg Disease - Cystinosis adult non-nephropathic type (CTNSANN) [MIM:219750]
CTNS O60931 VAR_010683 p.Asp205Asn Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_010690 p.Asp305Gly Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_010691 p.Asp305Tyr Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_010692 p.Gly308Arg Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_010694 p.Leu338Pro Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_010695 p.Gly339Arg Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_010698 p.Asp346Asn Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_012314 p.Lys292Arg Polymorphism rs1800527 -
CTNS O60931 VAR_012315 p.Ser298Asn Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_037318 p.Gly110Val Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_037319 p.Asn177Thr Disease - Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
CTNS O60931 VAR_037320 p.Pro200Leu Disease - Cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]
CTNS O60931 VAR_037321 p.Gln222Arg Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_037322 p.Asn288Lys Disease - Cystinosis nephropathic type (CTNS) [MIM:219800]
CTNS O60931 VAR_060371 p.Thr260Ile Polymorphism rs161400 -
CTPS P17812 VAR_027055 p.Ser571Ile Polymorphism rs17856308 -
CTRB1 P17538 VAR_014566 p.Thr250Ala Polymorphism rs4737 -
CTRB1 P17538 VAR_057158 p.Asp222His Polymorphism rs8061550 -
CTRB2 Q6GPI1 VAR_062766 p.Ala250Thr Polymorphism rs4737 -
CTRC Q99895 VAR_010928 p.Arg80Trp Polymorphism - -
CTRC Q99895 VAR_043516 p.Asp35His Polymorphism - -
CTRC Q99895 VAR_043517 p.Asp35Asn Polymorphism - -
CTRC Q99895 VAR_043518 p.Arg37Gln Unclassified - -
CTRC Q99895 VAR_043519 p.Gln48Arg Unclassified - -
CTRC Q99895 VAR_043520 p.Ala73Thr Unclassified - -
CTRC Q99895 VAR_043521 p.Lys172Glu Polymorphism rs34949635 -
CTRC Q99895 VAR_043522 p.Gly217Arg Polymorphism - -
CTRC Q99895 VAR_043523 p.Gly217Ser Unclassified - -
CTRC Q99895 VAR_043524 p.Gly218Ser Polymorphism - -
CTRC Q99895 VAR_043525 p.Leu220Arg Polymorphism - -
CTRC Q99895 VAR_043526 p.Glu225Ala Polymorphism - -
CTRC Q99895 VAR_043527 p.Val235Ile Unclassified - -
CTRC Q99895 VAR_043528 p.Pro249Leu Polymorphism - -
CTRC Q99895 VAR_043529 p.Arg254Trp Unclassified - -
CTRC Q99895 VAR_043530 p.Asp260Asn Polymorphism - -
CTRL P40313 VAR_021939 p.His173Arg Polymorphism rs1134760 -
CTRL P40313 VAR_051834 p.Thr150Ile Polymorphism rs11552953 -
CTSA P10619 VAR_001385 p.Gln49Arg Disease - Galactosialidosis (GSL) [MIM:256540]
CTSA P10619 VAR_001386 p.Trp65Arg Disease rs28934603 Galactosialidosis (GSL) [MIM:256540]
CTSA P10619 VAR_001387 p.Ser90Leu Disease - Galactosialidosis (GSL) [MIM:256540]
CTSA P10619 VAR_001388 p.Tyr249Asn Disease - Galactosialidosis (GSL) [MIM:256540]
CTSA P10619 VAR_001389 p.Tyr395Cys Disease - Galactosialidosis (GSL) [MIM:256540]
CTSA P10619 VAR_001390 p.Phe440Val Disease - Galactosialidosis (GSL) [MIM:256540]
CTSA P10619 VAR_063018 p.Ser51Tyr Disease - Galactosialidosis (GSL) [MIM:256540]
CTSA P10619 VAR_063019 p.Val132Met Disease - Galactosialidosis (GSL) [MIM:256540]
CTSA P10619 VAR_063020 p.Leu236Pro Disease - Galactosialidosis (GSL) [MIM:256540]
CTSA P10619 VAR_063021 p.Met406Thr Disease - Galactosialidosis (GSL) [MIM:256540]
CTSA P10619 VAR_063022 p.Gly439Ser Disease - Galactosialidosis (GSL) [MIM:256540]
CTSA P10619 VAR_063023 p.Lys453Glu Disease - Galactosialidosis (GSL) [MIM:256540]
CTSB P07858 VAR_006724 p.Leu26Val Polymorphism rs12338 -
CTSB P07858 VAR_014696 p.Ser235Asn Polymorphism rs17573 -
CTSB P07858 VAR_051511 p.Ser53Gly Polymorphism rs1803250 -
CTSB P07858 VAR_051512 p.Pro91Leu Polymorphism rs11548596 -
CTSC P53634 VAR_009541 p.Val249Phe Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_009542 p.Gln252Leu Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_009543 p.Arg272Pro Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_009544 p.Gly301Ser Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_009545 p.Arg339Cys Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_009546 p.Tyr347Cys Disease - Aggressive periodontititis type 1 (AP1) [MIM:170650]
CTSC P53634 VAR_009546 p.Tyr347Cys Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_016933 p.Trp39Ser Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_016934 p.His127Pro Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_016935 p.Gln286Arg Disease - Haim-Munk syndrome (HMS) [MIM:245010]
CTSC P53634 VAR_016935 p.Gln286Arg Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_016936 p.Trp429Cys Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_016943 p.Ile153Thr Polymorphism rs217086 -
CTSC P53634 VAR_016944 p.Tyr340Cys Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_016945 p.Glu401Lys Polymorphism - -
CTSC P53634 VAR_016946 p.Ile453Val Polymorphism rs3888798 -
CTSC P53634 VAR_019036 p.Val129Glu Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_019037 p.Gly139Arg Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_019038 p.Asp236Tyr Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_019039 p.Arg272His Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_019040 p.Cys291Tyr Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_019041 p.Gly300Asp Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_019042 p.Gly300Ser Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_019043 p.Gly301Val Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_019044 p.Tyr304Asn Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_019045 p.Gln312Arg Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_019046 p.Glu319Gly Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_019047 p.Tyr412Cys Disease rs28937571 Aggressive periodontititis type 1 (AP1) [MIM:170650]
CTSC P53634 VAR_019048 p.Glu447Gly Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_027249 p.His405Asn Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_027250 p.His405Arg Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSC P53634 VAR_039686 p.Tyr294His Disease - Papillon-Lefevre syndrome (PLS) [MIM:245000]
CTSD P07339 VAR_011621 p.Ala58Val Polymorphism rs17571 -
CTSD P07339 VAR_029362 p.Phe229Ile Disease - Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]
CTSD P07339 VAR_029363 p.Trp383Cys Disease - Neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]
CTSD P07339 VAR_058490 p.Gly282Arg Polymorphism - -
CTSE P14091 VAR_014572 p.Thr329Ile Polymorphism rs6503 -
CTSE P14091 VAR_061731 p.Ile82Val Polymorphism rs57621203 -
CTSF Q9UBX1 VAR_051513 p.Gln153Arg Polymorphism rs11550508 -
CTSG P08311 VAR_006491 p.Asn125Ser Polymorphism rs45567233 -
CTSH P09668 VAR_036478 p.Gly126Arg Unclassified - A colorectal cancer sample
CTSH P09668 VAR_057038 p.Gly11Arg Polymorphism rs2289702 -
CTSH P09668 VAR_057039 p.Ala23Thr Polymorphism rs35001431 -
CTSH P09668 VAR_060368 p.Cys26Ser Polymorphism rs1036938 -
CTSK P43235 VAR_006725 p.Gly146Arg Disease - Pycnodysostosis (PKND) [MIM:265800]
CTSK P43235 VAR_006726 p.Leu309Pro Disease rs29001685 Pycnodysostosis (PKND) [MIM:265800]
CTSK P43235 VAR_015738 p.Gly79Glu Disease - Pycnodysostosis (PKND) [MIM:265800]
CTSK P43235 VAR_015739 p.Ala277Val Disease - Pycnodysostosis (PKND) [MIM:265800]
CTSL3 Q5NE16 VAR_057040 p.Ser123Gly Polymorphism rs11141967 -
CTSS P25774 VAR_025385 p.Arg113Trp Polymorphism rs2230061 -
CTSS P25774 VAR_025386 p.Ser161Thr Polymorphism rs1059604 -
CTSW P56202 VAR_057041 p.Gln218Arg Polymorphism rs606830 -
CTSW P56202 VAR_058847 p.Ser139Gly Polymorphism rs604630 -
CTSZ Q9UBR2 VAR_010254 p.Pro36Ser Polymorphism - -
CTSZ Q9UBR2 VAR_010255 p.Ala129Arg Unclassified - -
CTSZ Q9UBR2 VAR_033719 p.Ala286Thr Polymorphism rs34069356 -
CTTNBP2 Q8WZ74 VAR_025535 p.Leu1213Val Polymorphism - -
CTTNBP2 Q8WZ74 VAR_048294 p.Gln1148Lys Polymorphism rs10274022 -
CTTNBP2NL Q9P2B4 VAR_050925 p.Val296Met Polymorphism rs1175640 -
CTTNBP2NL Q9P2B4 VAR_050926 p.Ser409Gly Polymorphism rs12137578 -
CTU1 Q7Z7A3 VAR_031402 p.Ala107Val Polymorphism rs17855403 -
CTU2 Q2VPK5 VAR_032595 p.Met253Val Polymorphism rs11549837 -
CTU2 Q2VPK5 VAR_032596 p.Val332Ile Polymorphism rs4782321 -
CTU2 Q2VPK5 VAR_032597 p.Gln416Arg Polymorphism rs8059048 -
CTU2 Q2VPK5 VAR_062244 p.His186Tyr Polymorphism rs2290895 -
CTXN3 Q4LDR2 VAR_031763 p.Glu17Val Polymorphism rs248709 -
CTXN3 Q4LDR2 VAR_053885 p.Met23Ile Polymorphism rs2280170 -
CUBN O60494 VAR_025284 p.Phe124Ile Polymorphism rs1801220 -
CUBN O60494 VAR_025285 p.Phe253Ser Polymorphism rs1801222 -
CUBN O60494 VAR_025286 p.Pro389Thr Polymorphism rs1801224 -
CUBN O60494 VAR_025287 p.Tyr1032His Polymorphism rs1801227 -
CUBN O60494 VAR_025288 p.Pro1297Leu Disease rs28939699 Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]
CUBN O60494 VAR_025289 p.Asn1545Tyr Polymorphism - -
CUBN O60494 VAR_025290 p.Pro1559Ser Polymorphism rs1801231 -
CUBN O60494 VAR_025291 p.Val1769Ile Polymorphism - -
CUBN O60494 VAR_025292 p.Leu2153Phe Polymorphism - -
CUBN O60494 VAR_025293 p.Cys2162Tyr Polymorphism rs1276712 -
CUBN O60494 VAR_025294 p.Pro2575Arg Polymorphism rs3740168 -
CUBN O60494 VAR_025295 p.Gly2691Arg Polymorphism rs1801237 -
CUBN O60494 VAR_025296 p.Ser2717Trp Polymorphism rs2796835 -
CUBN O60494 VAR_025297 p.Leu2879Ile Polymorphism rs45474496 -
CUBN O60494 VAR_025298 p.Ile2984Val Polymorphism rs1801239 -
CUBN O60494 VAR_025299 p.Glu3002Gly Polymorphism rs1801240 -
CUBN O60494 VAR_025300 p.Thr3422Ile Polymorphism rs1801230 -
CUBN O60494 VAR_025301 p.Asn3552Lys Polymorphism rs1801232 -
CUBN O60494 VAR_035829 p.His786Gln Unclassified - A breast cancer sample
CUBN O60494 VAR_035830 p.Ala2252Val Unclassified - A colorectal cancer sample
CUBN O60494 VAR_035831 p.Ala2914Val Unclassified rs45551835 A breast cancer sample
CUBN O60494 VAR_035832 p.Ile3189Val Unclassified - A breast cancer sample
CUBN O60494 VAR_047443 p.Gly66Arg Polymorphism rs12259370 -
CUBN O60494 VAR_047444 p.Ile504Met Polymorphism rs2228053 -
CUBN O60494 VAR_047445 p.His730Tyr Polymorphism rs7905349 -
CUBN O60494 VAR_047446 p.Leu969Val Polymorphism rs11254354 -
CUBN O60494 VAR_047447 p.Arg1775Trp Polymorphism rs1276708 -
CUBN O60494 VAR_047448 p.Gly1840Ser Polymorphism rs2271462 -
CUBN O60494 VAR_047449 p.Ser1935Gly Polymorphism rs41289305 -
CUBN O60494 VAR_047450 p.Pro1971Thr Polymorphism rs2356590 -
CUBN O60494 VAR_047451 p.Phe2263Cys Polymorphism rs2271460 -
CUBN O60494 VAR_047452 p.Arg2444Gln Polymorphism rs11254274 -
CUBN O60494 VAR_047453 p.Glu2968Gln Polymorphism rs45569534 -
CUBN O60494 VAR_055714 p.Thr3432Ser Polymorphism rs7898873 -
CUBN O60494 VAR_061154 p.Ala335Thr Polymorphism rs57335729 -
CUBN O60494 VAR_064704 p.Ser3258Gly Unclassified - -
CUEDC1 Q9NWM3 VAR_021951 p.Pro205Ser Polymorphism rs2304942 -
CUEDC1 Q9NWM3 VAR_033765 p.Arg316Gln Polymorphism rs34800498 -
CUEDC1 Q9NWM3 VAR_050933 p.Arg169His Polymorphism rs17762338 -
CUL2 Q13617 VAR_011374 p.Asn109Ser Polymorphism rs1131503 -
CUL3 Q13618 VAR_017194 p.Asp13His Polymorphism rs2969802 -
CUL3 Q13618 VAR_017195 p.Val567Ile Polymorphism rs3738952 -
CUL3 Q13618 VAR_048839 p.Arg184Ser Polymorphism rs17480168 -
CUL4A Q13619 VAR_020341 p.Lys644Arg Polymorphism rs2302757 -
CUL4B Q13620 VAR_032272 p.Leu103Pro Polymorphism rs61759504 -
CUL4B Q13620 VAR_032273 p.Thr213Ile Disease - Mental retardation syndromic X-linked Cabezas type (MRXC) [MIM:300354]
CUL4B Q13620 VAR_032274 p.Arg572Cys Disease - Mental retardation syndromic X-linked Cabezas type (MRXC) [MIM:300354]
CUL4B Q13620 VAR_032275 p.Val745Ala Disease - Mental retardation syndromic X-linked Cabezas type (MRXC) [MIM:300354]
CUL7 Q14999 VAR_026121 p.Gln813Arg Polymorphism rs9381231 -
CUL7 Q14999 VAR_026122 p.Leu1014Arg Disease - 3M syndrome type 1 (3M1) [MIM:273750]
CUL7 Q14999 VAR_026123 p.Gln1246Gly Disease - 3M syndrome type 1 (3M1) [MIM:273750]
CUL7 Q14999 VAR_026124 p.His1464Pro Disease - 3M syndrome type 1 (3M1) [MIM:273750]
CUL7 Q14999 VAR_048841 p.Ser616Gly Polymorphism rs7774330 -
CUL7 Q14999 VAR_048842 p.Arg852Gln Polymorphism rs34574340 -
CUL7 Q14999 VAR_048843 p.Gln1246His Polymorphism rs36071170 -
CUL9 Q8IWT3 VAR_048844 p.His2058Pro Polymorphism rs2273709 -
CUL9 Q8IWT3 VAR_048845 p.Thr2180Ile Polymorphism rs11962520 -
CUTC Q9NTM9 VAR_036363 p.Pro77Leu Unclassified - A breast cancer sample
CUX1 Q13948 VAR_024923 p.Ala464Thr Polymorphism rs803064 -
CUX1 Q13948 VAR_024924 p.Ile545Val Polymorphism rs2230103 -
CUX1 Q13948 VAR_036285 p.Ser490Gly Unclassified - A breast cancer sample
CUX1 Q13948 VAR_036286 p.Arg609Cys Unclassified - A colorectal cancer sample
CUX2 O14529 VAR_065096 p.Val1472Leu Polymorphism rs6490073 -
CUZD1 Q86UP6 VAR_061992 p.Gly156Ser Polymorphism rs35120257 -
CWC22 Q9HCG8 VAR_057513 p.Ala656Val Polymorphism rs17778270 -
CWC22 Q9HCG8 VAR_057514 p.Asp741Val Polymorphism rs11903115 -
CWC22 Q9HCG8 VAR_057515 p.Arg794Gln Polymorphism rs1046356 -
CWC27 Q6UX04 VAR_037686 p.Pro256Ala Polymorphism rs7735338 -
CWF19L1 Q69YN2 VAR_038264 p.Cys160Tyr Polymorphism rs2270962 -
CWF19L1 Q69YN2 VAR_038265 p.Pro259Leu Polymorphism rs7073610 -
CWF19L1 Q69YN2 VAR_038266 p.Arg523His Polymorphism rs35490714 -
CWF19L1 Q69YN2 VAR_038267 p.Arg526Gln Polymorphism rs7922946 -
CWF19L2 Q2TBE0 VAR_038268 p.Pro210Thr Polymorphism rs608634 -
CWF19L2 Q2TBE0 VAR_038269 p.His443Tyr Polymorphism rs659040 -
CWF19L2 Q2TBE0 VAR_038270 p.His445Gln Polymorphism rs35968518 -
CWF19L2 Q2TBE0 VAR_038271 p.Gly537Arg Polymorphism rs17106909 -
CWF19L2 Q2TBE0 VAR_038272 p.Tyr894Cys Polymorphism rs3758911 -
CWH43 Q9H720 VAR_039234 p.Pro2Thr Polymorphism rs3747690 -
CWH43 Q9H720 VAR_039235 p.His689Asn Polymorphism rs1051447 -
CX3CL1 P78423 VAR_048714 p.Ala240Val Polymorphism rs35860084 -
CX3CR1 P49238 VAR_010041 p.Thr57Ala Polymorphism - -
CX3CR1 P49238 VAR_010042 p.Val122Ile Polymorphism - -
CX3CR1 P49238 VAR_010043 p.Val249Ile Polymorphism rs3732379 -
CX3CR1 P49238 VAR_010044 p.Thr280Met Polymorphism rs3732378 -
CX3CR1 P49238 VAR_022062 p.Val147Ile Polymorphism rs3732380 -
CX3CR1 P49238 VAR_049386 p.Glu13Asp Polymorphism rs41535248 -
CXADR P78310 VAR_049871 p.Ser323Arg Polymorphism rs34727960 -
CXCL11 O14625 VAR_048700 p.Asn55Ser Polymorphism rs4859596 -
CXCL16 Q9H2A7 VAR_015424 p.Ile123Thr Polymorphism - -
CXCL16 Q9H2A7 VAR_015425 p.Ala181Val Polymorphism rs2277680 -
CXCL3 P19876 VAR_059210 p.His3Arg Polymorphism rs352043 -
CXCR1 P25024 VAR_003479 p.Ser276Thr Polymorphism rs2234671 -
CXCR1 P25024 VAR_016236 p.Arg71Cys Polymorphism rs1805038 -
CXCR1 P25024 VAR_016237 p.Ala306Thr Polymorphism - -
CXCR1 P25024 VAR_016238 p.Arg335Cys Polymorphism rs16858808 -
CXCR1 P25024 VAR_021061 p.Met31Arg Polymorphism rs16858811 -
CXCR1 P25024 VAR_021062 p.Ser342Leu Polymorphism rs16858806 -
CXCR1 P25024 VAR_026525 p.Met268Leu Polymorphism rs9282752 -
CXCR2 P25025 VAR_014679 p.Arg80Cys Polymorphism rs1805038 -
CXCR3 P49682 VAR_016240 p.Arg292Gln Polymorphism - -
CXCR3 P49682 VAR_016241 p.Ala363Thr Polymorphism - -
CXCR5 P32302 VAR_011838 p.Gly344Ser Polymorphism rs665648 -
CXCR5 P32302 VAR_035757 p.Glu34Lys Unclassified - A breast cancer sample
CXCR6 O00574 VAR_003506 p.Asp25Ala Unclassified - -
CXCR6 O00574 VAR_024253 p.Glu3Lys Polymorphism rs2234355 -
CXCR7 P25106 VAR_027477 p.Leu219Trp Polymorphism rs10183641 -
CXorf1 O96002 VAR_033766 p.Ser36Ala Polymorphism rs3752359 -
CXorf22 Q6ZTR5 VAR_056856 p.Val236Met Polymorphism rs2336029 -
CXorf22 Q6ZTR5 VAR_060280 p.Cys345Arg Polymorphism rs6632427 -
CXorf22 Q6ZTR5 VAR_060281 p.Ala561Thr Polymorphism rs11795910 -
CXorf22 Q6ZTR5 VAR_060282 p.His634Tyr Polymorphism rs17852470 -
CXorf22 Q6ZTR5 VAR_060283 p.Phe964Leu Polymorphism rs6629027 -
CXorf27 O75409 VAR_028810 p.Val68Ile Polymorphism rs6651635 -
CXorf30 A6PW82 VAR_044195 p.Ile332Val Polymorphism rs16998547 -
CXorf30 A6PW82 VAR_044196 p.Ile363Met Polymorphism rs6527558 -
CXorf30 A6PW82 VAR_044197 p.His606Arg Polymorphism rs6527569 -
CXorf36 Q9H7Y0 VAR_047103 p.Arg128Lys Polymorphism rs1132201 -
CXorf36 Q9H7Y0 VAR_047104 p.Arg146Gln Polymorphism rs9969 -
CXorf38 Q8TB03 VAR_050936 p.Thr176Ala Polymorphism rs17145855 -
CXorf57 Q6NSI4 VAR_028816 p.Ile593Met Polymorphism rs5962707 -
CXorf58 Q96LI9 VAR_029857 p.Arg24Cys Polymorphism rs2707164 -
CXorf58 Q96LI9 VAR_029858 p.Arg187His Polymorphism rs16982852 -
CXorf64 B1ATL7 VAR_059650 p.Met193Thr Polymorphism rs4289953 -
CXorf64 B1ATL7 VAR_061638 p.Leu115Val Polymorphism rs12835991 -
CXorf65 A6NEN9 VAR_045896 p.Arg156His Polymorphism rs12009522 -
CXorf66 Q5JRM2 VAR_046157 p.Pro233Leu Polymorphism rs5955139 -
CXorf67 Q86X51 VAR_038938 p.Arg470Lys Polymorphism rs1875755 -
CYB5D1 Q6P9G0 VAR_037486 p.Phe20Leu Polymorphism rs12453250 -
CYB5D2 Q8WUJ1 VAR_037487 p.Arg7Gly Unclassified - A colorectal cancer sample
CYB5D2 Q8WUJ1 VAR_037488 p.Arg7Pro Unclassified - A colorectal cancer sample
CYB5R1 Q9UHQ9 VAR_032320 p.Asn44Ser Polymorphism rs2232842 -
CYB5R2 Q6BCY4 VAR_032321 p.Glu15Ala Polymorphism rs11041525 -
CYB5R2 Q6BCY4 VAR_032322 p.Asn209Asp Polymorphism rs12801394 -
CYB5R3 P00387 VAR_004619 p.Arg58Gln Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
CYB5R3 P00387 VAR_004620 p.Val106Met Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
CYB5R3 P00387 VAR_004621 p.Ser128Pro Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
CYB5R3 P00387 VAR_004622 p.Leu149Pro Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
CYB5R3 P00387 VAR_010750 p.Leu73Pro Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
CYB5R3 P00387 VAR_010751 p.Thr117Ser Polymorphism rs1800457 -
CYB5R3 P00387 VAR_010752 p.Ala179Val Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
CYB5R3 P00387 VAR_010753 p.Cys204Arg Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
CYB5R3 P00387 VAR_010754 p.Cys204Tyr Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
CYB5R3 P00387 VAR_018419 p.Ser66Pro Polymorphism rs1130706 -
CYB5R3 P00387 VAR_037316 p.Gly292Asp Disease - Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]
CYB5R4 Q7L1T6 VAR_032323 p.Gln187Arg Polymorphism - -
CYB5R4 Q7L1T6 VAR_032324 p.His223Arg Polymorphism - -
CYB5R4 Q7L1T6 VAR_032325 p.Ser282Pro Polymorphism rs10080628 -
CYB5R4 Q7L1T6 VAR_036240 p.Asp371Tyr Unclassified - A breast cancer sample
CYB5R4 Q7L1T6 VAR_036241 p.Leu390Met Unclassified - A breast cancer sample
CYB5R4 Q7L1T6 VAR_047967 p.Arg140His Polymorphism - -
CYB5R4 Q7L1T6 VAR_047968 p.Pro267Ala Polymorphism rs61382555 -
CYB5R4 Q7L1T6 VAR_047969 p.Pro316Ser Polymorphism rs10080628 -
CYB5RL Q6IPT4 VAR_043577 p.Arg47Lys Polymorphism rs946448 -
CYBA P13498 VAR_005122 p.Tyr72His Polymorphism rs4673 -
CYBA P13498 VAR_005123 p.Arg90Gln Disease - Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
CYBA P13498 VAR_005124 p.His94Arg Disease - Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
CYBA P13498 VAR_005125 p.Ser118Arg Disease rs104894514 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
CYBA P13498 VAR_005126 p.Pro156Gln Disease - Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
CYBA P13498 VAR_012755 p.Gly24Arg Disease rs28941476 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
CYBA P13498 VAR_054801 p.Val174Ala Polymorphism rs1049254 -
CYBA P13498 VAR_060576 p.Gly25Val Disease rs179363891 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
CYBA P13498 VAR_060577 p.Leu52Pro Disease rs179363890 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
CYBA P13498 VAR_060578 p.Glu53Val Disease rs179363893 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
CYBA P13498 VAR_060579 p.Arg90Trp Disease rs179363892 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
CYBA P13498 VAR_060580 p.Ala124Val Disease rs179363894 Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
CYBA P13498 VAR_060581 p.Ala125Thr Disease - Chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]
CYBA P13498 VAR_060582 p.Glu171Gly Polymorphism rs72667005 -
CYBA P13498 VAR_060583 p.Glu193Asp Polymorphism - -
CYBB P04839 VAR_002432 p.His101Arg Disease rs137854591 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_002433 p.Ala156Thr Disease rs137854590 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_002434 p.His209Tyr Disease rs137854587 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_002435 p.Glu225Val Disease rs151344494 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_002436 p.Cys244Ser Disease rs137854589 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_002437 p.Cys244Tyr Disease rs137854589 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_002438 p.Pro339His Disease rs151344470 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_002439 p.Gly389Ala Disease rs137854586 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_002440 p.Pro415His Disease rs137854585 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_002441 p.Asp500Gly Disease rs137854593 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007873 p.Gly20Arg Disease rs151344455 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007874 p.Arg54Ser Disease rs151344456 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007875 p.Cys59Arg Disease rs151344457 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007876 p.His101Tyr Disease rs137854594 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007877 p.His119Arg Disease rs151344458 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007878 p.His209Gln Disease rs151344459 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007880 p.His222Asn Disease rs151344460 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007881 p.His222Arg Disease rs151344462 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007882 p.His222Tyr Disease rs151344460 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007883 p.Gly223Leu Disease rs151344463 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007884 p.Cys244Arg Disease rs151344465 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007885 p.Glu309Lys Disease rs151344466 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007886 p.Gly322Glu Disease rs151344467 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007887 p.Ile325Phe Disease rs151344468 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007888 p.Ser333Pro Disease rs151344469 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007889 p.Arg356Pro Disease rs151344471 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007890 p.Met405Arg Disease rs151344472 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007891 p.Gly408Glu Disease rs151344474 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007892 p.Gly408Arg Disease rs151344473 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007893 p.Pro415Leu Disease rs137854585 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007894 p.Ser422Pro Disease rs151344475 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007895 p.Trp453Arg Disease rs151344476 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007896 p.Trp516Cys Disease rs151344477 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007897 p.Val534Asp Disease rs151344478 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_007898 p.Cys537Arg Disease rs151344454 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_008845 p.Ala57Glu Disease rs151344481 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_016880 p.His303Asn Disease rs137854595 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_016881 p.Pro304Arg Disease rs137854596 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_025613 p.Tyr41Asp Disease rs151344453 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_025614 p.Arg54Met Disease rs151344479 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_025615 p.Ala55Asp Disease rs151344480 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_025616 p.His209Arg Disease rs151344482 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_025617 p.Ala224Gly Disease rs151344483 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_025618 p.His338Tyr Disease rs151344484 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_025619 p.Ser344Phe Disease rs151344485 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_025620 p.Gly364Arg Polymorphism rs141756032 -
CYBB P04839 VAR_025621 p.Gly389Glu Disease rs137854586 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_025622 p.Leu420Pro Disease rs151344486 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_025623 p.Trp516Arg Disease rs151344487 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_025624 p.Asp517Glu Polymorphism rs151344452 -
CYBB P04839 VAR_047264 p.Trp18Cys Disease - Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_047266 p.Cys59Trp Disease rs151344488 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_047267 p.Gly179Arg Disease rs151344491 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_047268 p.Ser193Phe Disease rs151344493 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_047269 p.Phe205Ile Disease rs151344496 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_047271 p.Thr307Pro Disease rs151344489 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_047273 p.Leu342Gln Disease rs151344495 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_047274 p.Gly472Ser Polymorphism rs13306300 -
CYBB P04839 VAR_047275 p.Leu505Arg Disease rs151344490 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_047276 p.Leu546Pro Disease rs151344492 Chronic granulomatous disease X-linked (XCGD) [MIM:306400]
CYBB P04839 VAR_065365 p.Thr178Pro Disease rs151344497 Mycobacteriosis atypical X-linked type 2 (AMCBX2) [MIM:300645]
CYBB P04839 VAR_065366 p.Gln231Pro Disease rs151344498 Mycobacteriosis atypical X-linked type 2 (AMCBX2) [MIM:300645]
CYBRD1 Q53TN4 VAR_038065 p.Met156Thr Polymorphism rs16859487 -
CYBRD1 Q53TN4 VAR_038066 p.Arg226His Polymorphism rs62181680 -
CYBRD1 Q53TN4 VAR_038067 p.Ser266Asn Polymorphism rs10455 -
CYC1 P08574 VAR_013631 p.Leu89Val Polymorphism - -
CYC1 P08574 VAR_025163 p.Met76Val Polymorphism rs7820984 -
CYCS P99999 VAR_002204 p.Met66Leu Unclassified - -
CYCS P99999 VAR_044450 p.Gly42Ser Disease - Thrombocytopenia type 4 (THC4) [MIM:612004]
CYCS P99999 VAR_048850 p.Lys56Arg Polymorphism rs11548795 -
CYFIP1 Q7L576 VAR_053849 p.Ala532Pro Polymorphism rs34683919 -
CYFIP1 Q7L576 VAR_053850 p.Gly820Asp Polymorphism rs17137190 -
CYFIP1 Q7L576 VAR_053851 p.Gly820Ser Polymorphism rs7170637 -
CYFIP2 Q96F07 VAR_030953 p.Lys320Glu Polymorphism rs3207362 -
CYLC1 P35663 VAR_050937 p.Asp399His Polymorphism rs12008888 -
CYLC2 Q14093 VAR_020100 p.Lys190Glu Polymorphism rs2298050 -
CYLC2 Q14093 VAR_020101 p.Gly208Asp Polymorphism rs2298051 -
CYLC2 Q14093 VAR_020102 p.Ala319Glu Polymorphism rs3763636 -
CYLC2 Q14093 VAR_050938 p.Asp146Tyr Polymorphism rs13293961 -
CYLC2 Q14093 VAR_050939 p.Gly184Asp Polymorphism rs10990424 -
CYLD Q9NQC7 VAR_045967 p.Glu747Gly Disease - Brooke-Spiegler syndrome (BRSS) [MIM:605041]
CYLD Q9NQC7 VAR_045967 p.Glu747Gly Disease - Multiple familial trichoepithelioma type 1 (MFT1) [MIM:601606]
CYP11A1 P05108 VAR_013944 p.Glu314Lys Polymorphism rs6161 -
CYP11A1 P05108 VAR_016949 p.Ala189Val Disease - Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743]
CYP11A1 P05108 VAR_016951 p.Arg353Trp Disease - Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743]
CYP11A1 P05108 VAR_065241 p.Leu141Trp Disease - Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743]
CYP11A1 P05108 VAR_065242 p.Leu222Pro Disease - Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743]
CYP11A1 P05108 VAR_065243 p.Ala359Val Disease - Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743]
CYP11A1 P05108 VAR_065244 p.Val415Glu Disease - Adrenal insufficiency congenital with 46,XY sex reversal (AICSR) [MIM:613743]
CYP11B1 P15538 VAR_001260 p.Pro42Ser Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010]
CYP11B1 P15538 VAR_001261 p.Asn133His Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010]
CYP11B1 P15538 VAR_001262 p.Thr318Met Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010]
CYP11B1 P15538 VAR_001263 p.Thr319Met Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010]
CYP11B1 P15538 VAR_001264 p.Arg374Gln Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010]
CYP11B1 P15538 VAR_001265 p.Arg448His Disease rs28934586 Adrenal hyperplasia type 4 (AH4) [MIM:202010]
CYP11B1 P15538 VAR_008687 p.Phe494Cys Polymorphism - -
CYP11B1 P15538 VAR_014145 p.Cys10Tyr Polymorphism rs6405 -
CYP11B1 P15538 VAR_014146 p.Arg43Gln Polymorphism rs4534 -
CYP11B1 P15538 VAR_014147 p.Met160Ile Polymorphism rs5287 -
CYP11B1 P15538 VAR_014148 p.Leu293Val Polymorphism rs5292 -
CYP11B1 P15538 VAR_014149 p.Ala348Thr Polymorphism rs6407 -
CYP11B1 P15538 VAR_014150 p.Ala386Val Polymorphism rs4541 -
CYP11B1 P15538 VAR_014638 p.Asp63His Polymorphism rs5282 -
CYP11B1 P15538 VAR_014639 p.Lys173Arg Polymorphism rs4539 -
CYP11B1 P15538 VAR_014640 p.Phe257Leu Polymorphism rs5288 -
CYP11B1 P15538 VAR_014641 p.Ser281Asn Polymorphism rs5291 -
CYP11B1 P15538 VAR_014642 p.Tyr439His Polymorphism rs5294 -
CYP11B1 P15538 VAR_048462 p.Thr248Ile Polymorphism rs34620645 -
CYP11B1 P15538 VAR_048463 p.Arg404His Polymorphism rs4998896 -
CYP11B1 P15538 VAR_065196 p.Gly379Val Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010]
CYP11B1 P15538 VAR_065197 p.Arg454Cys Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010]
CYP11B1 P15538 VAR_065666 p.Pro94Leu Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010]
CYP11B1 P15538 VAR_065667 p.Thr318Arg Disease - Adrenal hyperplasia type 4 (AH4) [MIM:202010]
CYP11B2 P19099 VAR_001266 p.Lys173Arg Polymorphism rs4539 -
CYP11B2 P19099 VAR_001267 p.Arg181Trp Disease rs28931609 Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]
CYP11B2 P19099 VAR_001268 p.Glu198Asp Disease - Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]
CYP11B2 P19099 VAR_001269 p.Val386Ala Disease rs4541 Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]
CYP11B2 P19099 VAR_014151 p.Ala29Thr Polymorphism rs6438 -
CYP11B2 P19099 VAR_014152 p.Arg30Gln Polymorphism rs6441 -
CYP11B2 P19099 VAR_014153 p.Ile248Thr Polymorphism rs4547 -
CYP11B2 P19099 VAR_014154 p.Asn281Ser Polymorphism rs4537 -
CYP11B2 P19099 VAR_014155 p.Ile339Thr Polymorphism rs4544 -
CYP11B2 P19099 VAR_014156 p.Gly435Ser Polymorphism rs4545 -
CYP11B2 P19099 VAR_014643 p.Asn222Thr Polymorphism rs5308 -
CYP11B2 P19099 VAR_014644 p.Glu383Val Polymorphism rs5312 -
CYP11B2 P19099 VAR_014645 p.Val403Glu Polymorphism rs5315 -
CYP11B2 P19099 VAR_014646 p.Phe487Val Polymorphism rs5317 -
CYP11B2 P19099 VAR_018471 p.Thr185Ile Disease - Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]
CYP11B2 P19099 VAR_018472 p.Leu461Pro Disease - Corticosterone methyloxidase type 1 deficiency (CMO-1 deficiency) [MIM:203400]
CYP11B2 P19099 VAR_018473 p.Thr498Ala Disease - Corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]
CYP17A1 P05093 VAR_001271 p.Tyr64Ser Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_001272 p.Ser106Pro Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_001274 p.Pro342Thr Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_001275 p.Arg347His Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_001276 p.Arg358Gln Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_001277 p.His373Leu Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_001278 p.Arg440His Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_001280 p.Arg496Cys Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_011755 p.Cys22Trp Polymorphism rs762563 -
CYP17A1 P05093 VAR_013147 p.Phe93Cys Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_022745 p.Pro35Leu Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_022746 p.Arg96Trp Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_022747 p.Phe114Val Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_022748 p.Asp116Val Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_022749 p.Asn177Asp Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_022750 p.Tyr329Asp Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_022752 p.Arg347Cys Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_022753 p.Arg362Cys Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_022754 p.Trp406Arg Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_022755 p.Phe417Cys Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_022756 p.Pro428Leu Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP17A1 P05093 VAR_022757 p.Arg496His Disease - Adrenal hyperplasia type 5 (AH5) [MIM:202110]
CYP19A1 P11511 VAR_016962 p.Arg365Gln Disease - Aromatase deficiency (AROD) [MIM:613546]
CYP19A1 P11511 VAR_016963 p.Arg375Cys Disease - Aromatase deficiency (AROD) [MIM:613546]
CYP19A1 P11511 VAR_016964 p.Arg435Cys Disease - Aromatase deficiency (AROD) [MIM:613546]
CYP19A1 P11511 VAR_016965 p.Cys437Tyr Disease - Aromatase deficiency (AROD) [MIM:613546]
CYP19A1 P11511 VAR_018406 p.Arg264Cys Polymorphism rs700519 -
CYP19A1 P11511 VAR_023428 p.Trp39Arg Polymorphism rs2236722 -
CYP19A1 P11511 VAR_023429 p.Thr201Met Polymorphism rs28757184 -
CYP19A1 P11511 VAR_054152 p.Arg375Leu Polymorphism - -
CYP1A1 P04798 VAR_001243 p.Ile462Val Polymorphism rs1048943 -
CYP1A1 P04798 VAR_008342 p.Thr461Asn Polymorphism rs1799814 -
CYP1A1 P04798 VAR_009280 p.Arg279Trp Polymorphism rs34260157 -
CYP1A1 P04798 VAR_016937 p.Met331Ile Polymorphism rs56313657 -
CYP1A1 P04798 VAR_016938 p.Ile448Asn Polymorphism - -
CYP1A1 P04798 VAR_016939 p.Arg464Cys Polymorphism - -
CYP1A1 P04798 VAR_016940 p.Arg464Ser Polymorphism rs41279188 -
CYP1A1 P04798 VAR_016941 p.Arg477Trp Polymorphism rs56240201 -
CYP1A1 P04798 VAR_016942 p.Pro492Arg Polymorphism rs28399430 -
CYP1A1 P04798 VAR_020122 p.Ile286Thr Polymorphism rs4987133 -
CYP1A1 P04798 VAR_023194 p.Gly45Asp Polymorphism rs4646422 -
CYP1A1 P04798 VAR_023195 p.Ile78Thr Polymorphism rs17861094 -
CYP1A1 P04798 VAR_024706 p.Arg93Trp Polymorphism rs2229150 -
CYP1A1 P04798 VAR_024707 p.Thr173Arg Polymorphism rs28399427 -
CYP1A1 P04798 VAR_024708 p.Val482Met Polymorphism rs28399429 -
CYP1A1 P04798 VAR_033817 p.Met66Val Polymorphism rs35035798 -
CYP1A1 P04798 VAR_033818 p.Phe470Val Polymorphism rs36121583 -
CYP1A2 P05177 VAR_008349 p.Phe21Leu Polymorphism rs56160784 -
CYP1A2 P05177 VAR_020793 p.Asp348Asn Polymorphism rs56276455 -
CYP1A2 P05177 VAR_020794 p.Ile386Phe Polymorphism - -
CYP1A2 P05177 VAR_020795 p.Cys406Tyr Polymorphism rs55889066 -
CYP1A2 P05177 VAR_020796 p.Arg431Trp Polymorphism rs28399424 -
CYP1A2 P05177 VAR_020848 p.Thr83Met Polymorphism - -
CYP1A2 P05177 VAR_020849 p.Glu168Gln Polymorphism - -
CYP1A2 P05177 VAR_020850 p.Phe186Leu Polymorphism - -
CYP1A2 P05177 VAR_020851 p.Ser212Cys Polymorphism - -
CYP1A2 P05177 VAR_020852 p.Gly299Ser Polymorphism rs35796837 -
CYP1A2 P05177 VAR_020853 p.Thr438Ile Polymorphism rs45486893 -
CYP1A2 P05177 VAR_023196 p.Ser18Cys Polymorphism rs17861152 -
CYP1A2 P05177 VAR_024709 p.Ser298Arg Polymorphism rs17861157 -
CYP1A2 P05177 VAR_024710 p.Ile314Val Polymorphism rs28399418 -
CYP1A2 P05177 VAR_025182 p.Pro42Arg Polymorphism - -
CYP1A2 P05177 VAR_025183 p.Gly73Arg Polymorphism rs45565238 -
CYP1A2 P05177 VAR_025184 p.Asp104Asn Polymorphism rs34067076 -
CYP1A2 P05177 VAR_025185 p.Leu111Phe Polymorphism rs45442197 -
CYP1A2 P05177 VAR_025186 p.Phe205Val Polymorphism rs45540640 -
CYP1A2 P05177 VAR_025187 p.Arg281Trp Polymorphism rs45468096 -
CYP1A2 P05177 VAR_025188 p.Arg377Gln Polymorphism - -
CYP1A2 P05177 VAR_025189 p.Arg456His Polymorphism - -
CYP1A2 P05177 VAR_055563 p.Arg457Trp Polymorphism rs34151816 -
CYP1B1 Q16678 VAR_001244 p.Gly61Glu Disease rs28936700 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_001244 p.Gly61Glu Disease rs28936700 Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_001245 p.Gly365Trp Disease rs55771538 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_001246 p.Asp374Asn Disease rs28936413 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_001247 p.Arg469Trp Disease rs28936701 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_001248 p.Leu432Val Polymorphism rs1056836 -
CYP1B1 Q16678 VAR_008350 p.Trp57Cys Disease - Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_008351 p.Pro379Leu Polymorphism rs56305281 -
CYP1B1 Q16678 VAR_008352 p.Glu387Lys Disease rs55989760 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_008352 p.Glu387Lys Disease rs55989760 Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_008353 p.Arg390His Disease rs56010818 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_008354 p.Pro437Leu Disease rs56175199 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_008355 p.Asn453Ser Polymorphism rs1800440 -
CYP1B1 Q16678 VAR_011752 p.Arg48Gly Polymorphism rs10012 -
CYP1B1 Q16678 VAR_011753 p.Ala119Ser Polymorphism rs1056827 -
CYP1B1 Q16678 VAR_016034 p.Arg368His Disease rs28936414 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_018774 p.Ala443Gly Disease rs4986888 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_018774 p.Ala443Gly Disease rs4986888 Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_018869 p.Ser206Asn Polymorphism rs9341248 -
CYP1B1 Q16678 VAR_018870 p.Arg266Leu Polymorphism rs9341250 -
CYP1B1 Q16678 VAR_028735 p.Gln68Arg Polymorphism rs9282670 -
CYP1B1 Q16678 VAR_028736 p.Tyr81Asn Disease rs9282671 Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_028737 p.Asp441His Polymorphism rs4986887 -
CYP1B1 Q16678 VAR_028738 p.Asp449Glu Polymorphism rs1056837 -
CYP1B1 Q16678 VAR_054227 p.Ser28Trp Disease - Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_054228 p.Pro52Leu Polymorphism - -
CYP1B1 Q16678 VAR_054229 p.Leu77Pro Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054230 p.Ala115Pro Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054231 p.Met132Arg Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054232 p.Gln144His Polymorphism - -
CYP1B1 Q16678 VAR_054233 p.Gln144Pro Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054234 p.Gln144Arg Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054235 p.Arg145Trp Disease - Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_054236 p.Gly184Ser Polymorphism - -
CYP1B1 Q16678 VAR_054237 p.Ala189Pro Unclassified - -
CYP1B1 Q16678 VAR_054238 p.Asp192Val Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054239 p.Pro193Leu Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054240 p.Val198Ile Disease rs59472972 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054241 p.Asn203Ser Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054242 p.Ser215Ile Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054243 p.Glu229Lys Disease rs57865060 Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054243 p.Glu229Lys Disease rs57865060 Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_054244 p.Gly232Arg Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054244 p.Gly232Arg Disease - Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_054245 p.Ser239Arg Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054247 p.Val320Leu Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054248 p.Ala330Phe Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054249 p.Ala330Ser Unclassified - -
CYP1B1 Q16678 VAR_054251 p.Leu345Phe Disease - Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_054253 p.Val364Met Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054254 p.Ala388Thr Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054255 p.Arg390Cys Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054256 p.Arg390Ser Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054257 p.Ile399Ser Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054258 p.Val409Phe Disease - Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_054259 p.Val422Gly Polymorphism - -
CYP1B1 Q16678 VAR_054260 p.Asn423Tyr Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054260 p.Asn423Tyr Disease - Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_054261 p.Arg444Gln Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054262 p.Phe445Cys Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054263 p.Gly466Asp Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054264 p.Glu499Gly Disease - Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
CYP1B1 Q16678 VAR_054265 p.Ser515Leu Disease - Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_054266 p.Val518Ala Polymorphism - -
CYP1B1 Q16678 VAR_054267 p.Arg523Thr Disease - Primary open angle glaucoma (POAG) [MIM:137760]
CYP1B1 Q16678 VAR_054268 p.Asp530Gly Disease - Primary open angle glaucoma (POAG) [MIM:137760]
CYP20A1 Q6UW02 VAR_059153 p.Ser97Leu Polymorphism rs2043449 -
CYP20A1 Q6UW02 VAR_059154 p.Leu346Phe Polymorphism rs1048013 -
CYP21A2 P08686 VAR_001281 p.Pro30Leu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001282 p.Lys98Arg Polymorphism - -
CYP21A2 P08686 VAR_001283 p.Lys102Arg Polymorphism - -
CYP21A2 P08686 VAR_001284 p.Pro105Leu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001285 p.Cys169Tyr Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001286 p.Ile172Asn Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001287 p.Asp183Glu Polymorphism rs1040310 -
CYP21A2 P08686 VAR_001288 p.Ile236Asn Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001289 p.Val237Glu Disease rs12530380 Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001290 p.Met239Lys Disease rs6476 Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001291 p.Ser268Thr Polymorphism rs6472 -
CYP21A2 P08686 VAR_001292 p.Val281Leu Disease rs6471 Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001293 p.Gly291Ser Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001294 p.Arg339His Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001295 p.Arg341Trp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001296 p.Arg356Pro Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001297 p.Arg356Gln Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001298 p.Arg356Trp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001299 p.Glu380Asp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001300 p.Pro453Ser Disease rs6445 Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001301 p.Arg483Pro Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_001302 p.Asn493Ser Polymorphism rs6473 -
CYP21A2 P08686 VAR_007923 p.Gly64Glu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_007924 p.Ala362Val Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_018364 p.His62Leu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_018365 p.Gly291Arg Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_018366 p.Ser301Tyr Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_018367 p.Arg341Pro Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_018368 p.Arg483Gln Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026059 p.Ala15Thr Disease rs63749090 Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026060 p.Pro30Gln Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026061 p.Gly90Val Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026062 p.Arg124His Disease rs72552750 Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026063 p.Gly178Ala Disease rs72552751 Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026064 p.Val211Leu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026065 p.Leu261Pro Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026066 p.Val281Gly Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026067 p.Met283Leu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026068 p.Gly291Cys Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026069 p.Leu300Phe Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026070 p.Val304Met Unclassified - -
CYP21A2 P08686 VAR_026071 p.Leu317Met Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026072 p.Arg354Cys Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026073 p.Arg354His Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026074 p.Leu363Trp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026075 p.His365Tyr Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026076 p.Gly375Ser Unclassified - -
CYP21A2 P08686 VAR_026077 p.Arg408Cys Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026078 p.Gly424Ser Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026079 p.Arg426His Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026080 p.Arg435Cys Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026081 p.Arg479Leu Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026082 p.Pro482Ser Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_026083 p.Arg483Trp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_065668 p.Gly56Arg Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_065669 p.Ile77Thr Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_065670 p.Leu107Arg Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_065671 p.Lys121Gln Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_065672 p.Leu142Pro Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_065673 p.Leu167Pro Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_065674 p.Ile230Thr Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_065675 p.Arg233Lys Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_065676 p.Gly292Asp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_065677 p.Glu320Lys Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP21A2 P08686 VAR_065678 p.Arg369Trp Disease - Adrenal hyperplasia type 3 (AH3) [MIM:201910]
CYP24A1 Q07973 VAR_048464 p.Arg157Gln Polymorphism rs35051736 -
CYP24A1 Q07973 VAR_048465 p.Met374Thr Polymorphism rs6022990 -
CYP24A1 Q07973 VAR_048466 p.Leu409Ser Disease rs6068812 Hypercalcemia infantile (HCAI) [MIM:143880]
CYP24A1 Q07973 VAR_066409 p.Arg159Gln Disease - Hypercalcemia infantile (HCAI) [MIM:143880]
CYP24A1 Q07973 VAR_066410 p.Glu322Lys Disease - Hypercalcemia infantile (HCAI) [MIM:143880]
CYP24A1 Q07973 VAR_066411 p.Arg396Trp Disease - Hypercalcemia infantile (HCAI) [MIM:143880]
CYP26B1 Q9NR63 VAR_024383 p.Leu264Ser Polymorphism rs2241057 -
CYP26B1 Q9NR63 VAR_038722 p.Val181Met Polymorphism - -
CYP26B1 Q9NR63 VAR_038723 p.Ala185Val Polymorphism - -
CYP26B1 Q9NR63 VAR_038724 p.Arg191His Polymorphism - -
CYP26B1 Q9NR63 VAR_038725 p.Asp227Asn Polymorphism - -
CYP26B1 Q9NR63 VAR_038726 p.Glu380Lys Polymorphism rs2286965 -
CYP26B1 Q9NR63 VAR_038727 p.Ala420Gly Polymorphism rs7568553 -
CYP26B1 Q9NR63 VAR_038728 p.Arg473Cys Polymorphism - -
CYP26B1 Q9NR63 VAR_038729 p.Val479Ile Polymorphism - -
CYP26C1 Q6V0L0 VAR_022886 p.Arg245Gln Polymorphism rs11187265 -
CYP27A1 Q02318 VAR_001303 p.Arg395Cys Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
CYP27A1 Q02318 VAR_001304 p.Arg479Cys Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
CYP27A1 Q02318 VAR_012285 p.Arg395Ser Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
CYP27A1 Q02318 VAR_012286 p.Arg405Gln Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
CYP27A1 Q02318 VAR_012287 p.Arg474Gln Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
CYP27A1 Q02318 VAR_012288 p.Arg474Trp Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
CYP27A1 Q02318 VAR_016966 p.Gly145Glu Disease - Cerebrotendinous xanthomatosis (CTX) [MIM:213700]
CYP27A1 Q02318 VAR_048467 p.Thr175Met Polymorphism rs2229381 -
CYP27A1 Q02318 VAR_061046 p.Ala169Val Polymorphism rs59443548 -
CYP27B1 O15528 VAR_016952 p.Arg107His Disease rs28934604 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016953 p.Gly125Glu Disease rs28934605 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016954 p.Glu189Gly Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016955 p.Thr321Arg Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016956 p.Arg335Pro Disease rs28934606 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016957 p.Leu343Phe Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016958 p.Pro382Ser Disease rs28934607 Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016959 p.Arg389His Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016960 p.Arg389Gly Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016961 p.Thr409Ile Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016967 p.Glu189Lys Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016968 p.Arg389Cys Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016969 p.Gln65His Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016970 p.Ser323Tyr Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016971 p.Arg429Pro Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016972 p.Arg453Cys Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016973 p.Val478Gly Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_016974 p.Pro497Arg Disease - Rickets vitamin D-dependent type 1A (VDDR1A) [MIM:264700]
CYP27B1 O15528 VAR_018841 p.Val166Leu Polymorphism rs8176344 -
CYP27C1 Q4G0S4 VAR_033120 p.Thr359Met Polymorphism rs35075135 -
CYP2A13 Q16696 VAR_013835 p.Arg257Cys Polymorphism rs8192789 -
CYP2A13 Q16696 VAR_018334 p.Arg25Gln Polymorphism rs8192784 -
CYP2A13 Q16696 VAR_018335 p.Arg101Gln Polymorphism - -
CYP2A13 Q16696 VAR_018337 p.Asp158Glu Polymorphism - -
CYP2A13 Q16696 VAR_018338 p.Phe453Tyr Polymorphism - -
CYP2A13 Q16696 VAR_018339 p.Arg494Cys Polymorphism - -
CYP2A13 Q16696 VAR_018356 p.Val323Leu Polymorphism - -
CYP2A6 P11509 VAR_001249 p.Leu160His Polymorphism rs1801272 -
CYP2A6 P11509 VAR_008356 p.Gly479Val Polymorphism rs5031017 -
CYP2A6 P11509 VAR_011577 p.Arg128Gln Polymorphism rs4986891 -
CYP2A6 P11509 VAR_011578 p.Ile471Thr Polymorphism rs5031016 -
CYP2A6 P11509 VAR_011579 p.Arg485Leu Polymorphism rs28399468 -
CYP2A6 P11509 VAR_018330 p.Gly5Arg Polymorphism rs28399434 -
CYP2A6 P11509 VAR_018331 p.Ser29Asn Polymorphism rs28399435 -
CYP2A6 P11509 VAR_018332 p.Lys194Glu Polymorphism - -
CYP2A6 P11509 VAR_018333 p.Arg203Ser Polymorphism rs56256500 -
CYP2A6 P11509 VAR_018375 p.Glu419Asp Polymorphism rs8192730 -
CYP2A6 P11509 VAR_024711 p.Phe118Leu Polymorphism rs28399440 -
CYP2A6 P11509 VAR_024712 p.Ser224Pro Polymorphism - -
CYP2A6 P11509 VAR_024713 p.Val365Met Polymorphism rs28399454 -
CYP2A6 P11509 VAR_024714 p.Asn418Asp Polymorphism rs28399463 -
CYP2A6 P11509 VAR_024715 p.Lys476Arg Polymorphism rs6413474 -
CYP2A6 P11509 VAR_048448 p.Thr294Ser Polymorphism rs4997557 -
CYP2A6 P11509 VAR_055033 p.Phe392Tyr Polymorphism rs1809810 -
CYP2A6 P11509 VAR_055034 p.Arg203Cys Polymorphism - -
CYP2A6 P11509 VAR_055035 p.Val110Leu Polymorphism - -
CYP2A6 P11509 VAR_055036 p.Arg128Leu Polymorphism - -
CYP2A6 P11509 VAR_055037 p.Ser131Ala Polymorphism rs59552350 -
CYP2A6 P11509 VAR_055038 p.Asn438Tyr Polymorphism - -
CYP2A6 P11509 VAR_059149 p.Val292Met Polymorphism rs2644906 -
CYP2A7 P20853 VAR_047815 p.Phe61Ile Polymorphism rs10425176 -
CYP2A7 P20853 VAR_047816 p.Cys64Arg Polymorphism rs10425169 -
CYP2A7 P20853 VAR_047817 p.His274Arg Polymorphism rs4079366 -
CYP2A7 P20853 VAR_047818 p.Ala301Gly Polymorphism rs2545754 -
CYP2A7 P20853 VAR_047819 p.Arg311Cys Polymorphism rs3869579 -
CYP2A7 P20853 VAR_047820 p.Met368Thr Polymorphism rs2261144 -
CYP2A7 P20853 VAR_061043 p.Asp169Glu Polymorphism rs4142867 -
CYP2A7 P20853 VAR_061044 p.Val479Gly Polymorphism rs12460590 -
CYP2B6 P20813 VAR_016924 p.Pro167Ala Polymorphism rs3826711 -
CYP2B6 P20813 VAR_016925 p.Gln172His Polymorphism rs3745274 -
CYP2B6 P20813 VAR_016926 p.Lys262Arg Polymorphism rs2279343 -
CYP2B6 P20813 VAR_016927 p.Arg22Cys Polymorphism rs8192709 -
CYP2B6 P20813 VAR_016928 p.Ser259Arg Polymorphism rs45482602 -
CYP2B6 P20813 VAR_016929 p.Arg487Cys Polymorphism rs3211371 -
CYP2B6 P20813 VAR_016948 p.Lys139Glu Polymorphism - -
CYP2B6 P20813 VAR_023563 p.Gln21Leu Polymorphism rs34883432 -
CYP2B6 P20813 VAR_023564 p.Met46Val Polymorphism rs35303484 -
CYP2B6 P20813 VAR_023565 p.Gly99Glu Polymorphism rs36060847 -
CYP2B6 P20813 VAR_023566 p.Arg140Gln Polymorphism rs35773040 -
CYP2B6 P20813 VAR_023567 p.Ile391Asn Polymorphism rs35979566 -
CYP2B6 P20813 VAR_024716 p.Ile328Thr Polymorphism rs28399499 -
CYP2B6 P20813 VAR_025206 p.Thr26Ser Polymorphism rs33973337 -
CYP2B6 P20813 VAR_025207 p.Asp28Gly Polymorphism rs33980385 -
CYP2B6 P20813 VAR_025208 p.Arg29Ser Polymorphism rs33926104 -
CYP2B6 P20813 VAR_025209 p.Asn289Lys Polymorphism rs34277950 -
CYP2B6 P20813 VAR_025210 p.Thr306Ser Polymorphism rs34698757 -
CYP2B6 P20813 VAR_033819 p.Arg29Pro Polymorphism rs34284776 -
CYP2C18 P33260 VAR_001254 p.Thr385Met Polymorphism rs2281891 -
CYP2C19 P33261 VAR_001255 p.Val331Ile Polymorphism rs3758581 -
CYP2C19 P33261 VAR_008357 p.Trp120Arg Polymorphism rs41291556 -
CYP2C19 P33261 VAR_008358 p.Arg132Gln Polymorphism - -
CYP2C19 P33261 VAR_008359 p.Arg433Trp Polymorphism rs56337013 -
CYP2C19 P33261 VAR_020123 p.Pro227Leu Polymorphism rs6413438 -
CYP2C19 P33261 VAR_021268 p.Leu17Pro Polymorphism rs55752064 -
CYP2C19 P33261 VAR_021269 p.Ile19Leu Polymorphism rs17882687 -
CYP2C19 P33261 VAR_021270 p.Glu92Asp Polymorphism rs17878459 -
CYP2C19 P33261 VAR_021271 p.Glu122Ala Polymorphism rs17885179 -
CYP2C19 P33261 VAR_021272 p.Arg144His Polymorphism rs17884712 -
CYP2C19 P33261 VAR_021273 p.Arg150His Polymorphism rs58973490 -
CYP2C19 P33261 VAR_021274 p.Arg410Cys Polymorphism rs17879685 -
CYP2C19 P33261 VAR_021275 p.Arg442Cys Polymorphism - -
CYP2C19 P33261 VAR_024083 p.Ser51Gly Polymorphism - -
CYP2C19 P33261 VAR_024084 p.Ala161Pro Polymorphism - -
CYP2C19 P33261 VAR_024085 p.Arg329His Polymorphism - -
CYP2C19 P33261 VAR_024718 p.Met74Thr Polymorphism rs28399505 -
CYP2C19 P33261 VAR_024719 p.Phe168Leu Polymorphism rs28399510 -
CYP2C8 P10632 VAR_001250 p.Glu154Asp Unclassified - -
CYP2C8 P10632 VAR_001251 p.Asn193Lys Unclassified - -
CYP2C8 P10632 VAR_001252 p.Lys249Arg Unclassified - -
CYP2C8 P10632 VAR_001253 p.His411Leu Unclassified - -
CYP2C8 P10632 VAR_011754 p.Ile264Met Polymorphism rs1058930 -
CYP2C8 P10632 VAR_012238 p.Arg139Lys Polymorphism rs11572080 -
CYP2C8 P10632 VAR_012239 p.Ile269Phe Polymorphism rs11572103 -
CYP2C8 P10632 VAR_012240 p.Lys399Arg Polymorphism rs10509681 -
CYP2C8 P10632 VAR_016947 p.Leu390Ser Polymorphism - -
CYP2C8 P10632 VAR_018958 p.Ile244Val Polymorphism rs11572102 -
CYP2C9 P11712 VAR_008343 p.Arg144Cys Polymorphism rs1799853 -
CYP2C9 P11712 VAR_008344 p.Tyr358Cys Polymorphism rs1057909 -
CYP2C9 P11712 VAR_008345 p.Ile359Leu Polymorphism rs1057910 -
CYP2C9 P11712 VAR_008346 p.Gly417Asp Polymorphism - -
CYP2C9 P11712 VAR_013515 p.Ile359Thr Polymorphism rs56165452 -
CYP2C9 P11712 VAR_013516 p.Asp360Glu Polymorphism rs28371686 -
CYP2C9 P11712 VAR_018862 p.Leu19Ile Polymorphism - -
CYP2C9 P11712 VAR_018863 p.Arg150His Polymorphism rs7900194 -
CYP2C9 P11712 VAR_018864 p.His251Arg Polymorphism rs2256871 -
CYP2C9 P11712 VAR_018865 p.Glu272Gly Polymorphism rs9332130 -
CYP2C9 P11712 VAR_018866 p.Arg335Trp Polymorphism rs28371685 -
CYP2C9 P11712 VAR_018867 p.Pro489Ser Polymorphism rs9332239 -
CYP2C9 P11712 VAR_024717 p.Leu413Pro Polymorphism rs28371687 -
CYP2D6 P10635 VAR_001256 p.Gly42Arg Polymorphism rs5030862 -
CYP2D6 P10635 VAR_008336 p.Pro34Ser Polymorphism rs1065852 -
CYP2D6 P10635 VAR_008337 p.Thr107Ile Polymorphism rs28371706 -
CYP2D6 P10635 VAR_008338 p.Gly169Arg Polymorphism - -
CYP2D6 P10635 VAR_008339 p.Gly212Glu Polymorphism rs5030866 -
CYP2D6 P10635 VAR_008340 p.Arg296Cys Polymorphism rs16947 -
CYP2D6 P10635 VAR_008341 p.Ser486Thr Polymorphism rs1135840 -
CYP2D6 P10635 VAR_008348 p.His324Pro Polymorphism rs5030867 -
CYP2D6 P10635 VAR_008366 p.Val11Met Polymorphism rs769258 -
CYP2D6 P10635 VAR_008367 p.Arg26His Polymorphism rs28371696 -
CYP2D6 P10635 VAR_008368 p.Arg28Cys Polymorphism - -
CYP2D6 P10635 VAR_008369 p.Ala85Val Polymorphism - -
CYP2D6 P10635 VAR_008370 p.Ala237Ser Polymorphism rs28371717 -
CYP2D6 P10635 VAR_008371 p.Ile297Leu Polymorphism - -
CYP2D6 P10635 VAR_008372 p.Arg343Gly Polymorphism - -
CYP2D6 P10635 VAR_008373 p.Ile369Thr Polymorphism - -
CYP2D6 P10635 VAR_008374 p.Glu410Lys Polymorphism - -
CYP2D6 P10635 VAR_014633 p.Ser311Leu Polymorphism rs1800754 -
CYP2D6 P10635 VAR_024720 p.Leu91Met Polymorphism rs28371703 -
CYP2D6 P10635 VAR_024721 p.His94Arg Polymorphism rs28371704 -
CYP2D6 P10635 VAR_024722 p.Phe120Ile Polymorphism rs1135822 -
CYP2D6 P10635 VAR_024723 p.Glu155Lys Polymorphism rs28371710 -
CYP2D6 P10635 VAR_024724 p.Glu418Lys Polymorphism - -
CYP2D6 P10635 VAR_024725 p.Pro469Ala Polymorphism rs1135833 -
CYP2D6 P10635 VAR_024726 p.His478Tyr Polymorphism rs28371735 -
CYP2D6 P10635 VAR_045679 p.Leu231Pro Polymorphism rs17002853 -
CYP2D6 P10635 VAR_045680 p.Ala300Gly Polymorphism rs1058170 -
CYP2D6 P10635 VAR_045681 p.Arg365His Polymorphism rs1058172 -
CYP2D6 P10635 VAR_059150 p.Arg329Leu Polymorphism rs3915951 -
CYP2D6 P10635 VAR_059151 p.Gly373Ser Polymorphism rs2856959 -
CYP2E1 P05181 VAR_008360 p.Arg76His Polymorphism - -
CYP2E1 P05181 VAR_008361 p.Val179Ile Polymorphism rs6413419 -
CYP2E1 P05181 VAR_008362 p.Val389Ile Polymorphism rs55897648 -
CYP2E1 P05181 VAR_024727 p.His457Leu Polymorphism rs28969387 -
CYP2E1 P05181 VAR_055382 p.Asn219Asp Polymorphism rs41299426 -
CYP2E1 P05181 VAR_055383 p.Ser366Cys Polymorphism rs41299434 -
CYP2F1 P24903 VAR_058863 p.Ser38Pro Polymorphism rs58285195 -
CYP2F1 P24903 VAR_058864 p.Arg98Pro Polymorphism rs57670668 -
CYP2F1 P24903 VAR_058865 p.Asp218Asn Polymorphism - -
CYP2F1 P24903 VAR_058866 p.Gln266His Polymorphism - -
CYP2F1 P24903 VAR_058867 p.Leu391Pro Polymorphism - -
CYP2F1 P24903 VAR_058868 p.Pro490Leu Polymorphism rs7246981 -
CYP2J2 P51589 VAR_014317 p.Thr143Ala Polymorphism rs55753213 -
CYP2J2 P51589 VAR_014318 p.Arg158Cys Polymorphism rs56307989 -
CYP2J2 P51589 VAR_014319 p.Ile192Asn Polymorphism - -
CYP2J2 P51589 VAR_014320 p.Asp342Asn Polymorphism rs56053398 -
CYP2J2 P51589 VAR_014321 p.Asn404Tyr Polymorphism - -
CYP2J2 P51589 VAR_022084 p.Asn124Ser Polymorphism rs2228113 -
CYP2J2 P51589 VAR_029159 p.Arg49Ser Polymorphism rs11572190 -
CYP2J2 P51589 VAR_029160 p.Val113Met Polymorphism rs11572242 -
CYP2R1 Q6VVX0 VAR_021534 p.Leu99Pro Disease rs61495246 Rickets vitamin D-dependent type 1B (VDDR1B) [MIM:600081]
CYP2S1 Q96SQ9 VAR_033820 p.Pro466Leu Polymorphism rs34971233 -
CYP2W1 Q8TAV3 VAR_027413 p.Ala181Thr Polymorphism rs3735684 -
CYP39A1 Q9NYL5 VAR_031609 p.Arg23Pro Polymorphism rs12192544 -
CYP39A1 Q9NYL5 VAR_031610 p.Arg103His Polymorphism rs2277119 -
CYP39A1 Q9NYL5 VAR_031611 p.Tyr288His Polymorphism rs17856332 -
CYP39A1 Q9NYL5 VAR_031612 p.Asn324Lys Polymorphism rs7761731 -
CYP3A4 P08684 VAR_008363 p.Ser222Pro Polymorphism rs55785340 -
CYP3A4 P08684 VAR_008364 p.Met445Thr Polymorphism rs4986910 -
CYP3A4 P08684 VAR_011597 p.Leu15Pro Polymorphism rs12721634 -
CYP3A4 P08684 VAR_011598 p.Gly56Asp Polymorphism rs56324128 -
CYP3A4 P08684 VAR_011599 p.Ile118Val Polymorphism rs55951658 -
CYP3A4 P08684 VAR_011600 p.Arg130Gln Polymorphism - -
CYP3A4 P08684 VAR_011601 p.Arg162Gln Polymorphism rs4986907 -
CYP3A4 P08684 VAR_011602 p.Val170Ile Polymorphism - -
CYP3A4 P08684 VAR_011603 p.Asp174His Polymorphism - -
CYP3A4 P08684 VAR_011604 p.Thr185Ser Polymorphism rs12721627 -
CYP3A4 P08684 VAR_011605 p.Pro218Arg Polymorphism rs55901263 -
CYP3A4 P08684 VAR_011606 p.Thr363Met Polymorphism - -
CYP3A4 P08684 VAR_011607 p.Leu373Phe Polymorphism rs12721629 -
CYP3A4 P08684 VAR_011608 p.Pro416Leu Polymorphism rs4986909 -
CYP3A4 P08684 VAR_014322 p.Phe189Ser Polymorphism rs4987161 -
CYP3A4 P08684 VAR_014323 p.Leu293Pro Polymorphism rs28371759 -
CYP3A4 P08684 VAR_014324 p.Pro467Ser Polymorphism rs4986913 -
CYP3A4 P08684 VAR_037547 p.Lys96Glu Polymorphism rs3091339 -
CYP3A4 P08684 VAR_037548 p.Ser252Ala Polymorphism rs3208363 -
CYP3A4 P08684 VAR_037549 p.Thr349Asn Polymorphism rs10250778 -
CYP3A4 P08684 VAR_037550 p.Ile431Thr Polymorphism rs1041988 -
CYP3A43 Q9HB55 VAR_018052 p.Pro340Ala Polymorphism rs680055 -
CYP3A43 Q9HB55 VAR_048449 p.Thr27Ala Polymorphism rs45558032 -
CYP3A43 Q9HB55 VAR_048450 p.Met145Ile Polymorphism rs45450092 -
CYP3A43 Q9HB55 VAR_048451 p.Met275Ile Polymorphism rs45621431 -
CYP3A5 P20815 VAR_008365 p.Thr398Asn Polymorphism rs28365083 -
CYP3A5 P20815 VAR_024728 p.His30Tyr Polymorphism rs28383468 -
CYP3A5 P20815 VAR_024729 p.Asp277Glu Polymorphism rs28383477 -
CYP3A5 P20815 VAR_024730 p.Ala337Thr Polymorphism rs28383479 -
CYP3A5 P20815 VAR_024731 p.Arg28Cys Polymorphism rs55817950 -
CYP3A5 P20815 VAR_024732 p.Gln200Arg Polymorphism rs56411402 -
CYP3A5 P20815 VAR_024733 p.Phe446Ser Polymorphism rs41279854 -
CYP3A5 P20815 VAR_029161 p.Ile371Val Polymorphism rs28365092 -
CYP3A5 P20815 VAR_029162 p.Ile488Thr Polymorphism rs28365085 -
CYP3A7 P24462 VAR_020124 p.Arg409Thr Polymorphism rs2257401 -
CYP3A7 P24462 VAR_055564 p.Val71Ala Polymorphism rs45580339 -
CYP4A11 Q02928 VAR_019160 p.Phe434Ser Polymorphism rs1126742 -
CYP4A11 Q02928 VAR_044377 p.Ser353Gly Polymorphism - -
CYP4A11 Q02928 VAR_048452 p.Asn226Ser Polymorphism rs12759923 -
CYP4A22 Q5TCH4 VAR_044349 p.Arg11Cys Polymorphism - -
CYP4A22 Q5TCH4 VAR_044350 p.Lys121Arg Polymorphism rs2758717 -
CYP4A22 Q5TCH4 VAR_044351 p.Arg126Trp Polymorphism rs12564525 -
CYP4A22 Q5TCH4 VAR_044352 p.Gly130Ser Polymorphism rs2056900 -
CYP4A22 Q5TCH4 VAR_044353 p.Asn152Tyr Polymorphism rs2056899 -
CYP4A22 Q5TCH4 VAR_044354 p.Val185Phe Polymorphism - -
CYP4A22 Q5TCH4 VAR_044355 p.Ser226Asn Polymorphism rs35202523 -
CYP4A22 Q5TCH4 VAR_044356 p.Cys230Ser Polymorphism rs35156123 -
CYP4A22 Q5TCH4 VAR_044357 p.Cys231Arg Polymorphism rs10789501 -
CYP4A22 Q5TCH4 VAR_044358 p.Lys276Thr Polymorphism - -
CYP4A22 Q5TCH4 VAR_044359 p.Leu428Pro Polymorphism rs2405599 -
CYP4A22 Q5TCH4 VAR_044360 p.Met491Ile Polymorphism rs2758714 -
CYP4A22 Q5TCH4 VAR_044361 p.Leu509Phe Polymorphism rs4926600 -
CYP4A22 Q5TCH4 VAR_061045 p.Tyr104Phe Polymorphism rs61507155 -
CYP4B1 P13584 VAR_018357 p.Arg173Trp Polymorphism rs4646487 -
CYP4B1 P13584 VAR_018358 p.Ser322Gly Polymorphism rs45467195 -
CYP4B1 P13584 VAR_018359 p.Met331Ile Polymorphism rs2297810 -
CYP4B1 P13584 VAR_018360 p.Arg340Cys Polymorphism rs4646491 -
CYP4B1 P13584 VAR_018361 p.Val345Ile Polymorphism - -
CYP4B1 P13584 VAR_018362 p.Arg375Cys Polymorphism rs2297809 -
CYP4B1 P13584 VAR_048453 p.Arg264Trp Polymorphism rs45446505 -
CYP4B1 P13584 VAR_048454 p.Tyr329Ser Polymorphism rs12094024 -
CYP4B1 P13584 VAR_048455 p.Phe354Cys Polymorphism rs17102592 -
CYP4B1 P13584 VAR_048456 p.Arg482Gln Polymorphism rs45622937 -
CYP4B1 P13584 VAR_055377 p.Ala111Val Polymorphism rs45559437 -
CYP4B1 P13584 VAR_055378 p.Arg274Gln Polymorphism rs45578838 -
CYP4F11 Q9HBI6 VAR_060265 p.Arg146Cys Polymorphism rs57519667 -
CYP4F11 Q9HBI6 VAR_060266 p.Cys276Arg Polymorphism rs8104361 -
CYP4F11 Q9HBI6 VAR_060267 p.Asp284Asn Polymorphism rs1060463 -
CYP4F12 Q9HCS2 VAR_013244 p.Pro13Leu Polymorphism rs16995376 -
CYP4F12 Q9HCS2 VAR_013245 p.Asn76Asp Polymorphism rs609636 -
CYP4F12 Q9HCS2 VAR_013246 p.Ile90Val Polymorphism rs609290 -
CYP4F12 Q9HCS2 VAR_013247 p.Cys188Arg Polymorphism rs2285888 -
CYP4F12 Q9HCS2 VAR_048459 p.Thr16Met Polymorphism rs16995378 -
CYP4F12 Q9HCS2 VAR_048460 p.Ser522Gly Polymorphism rs593818 -
CYP4F2 P78329 VAR_013116 p.Ser7Tyr Polymorphism rs3093104 -
CYP4F2 P78329 VAR_013117 p.Trp12Gly Polymorphism rs3093105 -
CYP4F2 P78329 VAR_013118 p.Gly185Val Polymorphism rs3093153 -
CYP4F2 P78329 VAR_013119 p.Val433Met Polymorphism rs2108622 -
CYP4F2 P78329 VAR_013120 p.Leu519Met Polymorphism rs3093200 -
CYP4F2 P78329 VAR_020125 p.Ala269Asp Polymorphism rs1805040 -
CYP4F22 Q6NT55 VAR_033118 p.Ser178Cys Polymorphism rs16980531 -
CYP4F22 Q6NT55 VAR_033119 p.Lys505Gln Polymorphism rs7256787 -
CYP4F22 Q6NT55 VAR_037441 p.Phe59Leu Disease - Ichthyosis lamellar type 3 (LI3) [MIM:604777]
CYP4F22 Q6NT55 VAR_037442 p.Arg243His Disease - Ichthyosis lamellar type 3 (LI3) [MIM:604777]
CYP4F22 Q6NT55 VAR_037443 p.Arg372Trp Disease - Ichthyosis lamellar type 3 (LI3) [MIM:604777]
CYP4F22 Q6NT55 VAR_037444 p.His435Tyr Disease - Ichthyosis lamellar type 3 (LI3) [MIM:604777]
CYP4F22 Q6NT55 VAR_037445 p.His436Asp Disease - Ichthyosis lamellar type 3 (LI3) [MIM:604777]
CYP4F3 Q08477 VAR_001258 p.Ala269Asp Polymorphism rs1805040 -
CYP4F3 Q08477 VAR_020664 p.Val270Ile Polymorphism rs28371536 -
CYP4F3 Q08477 VAR_020665 p.Ile271Thr Polymorphism rs28371479 -
CYP4F3 Q08477 VAR_048457 p.His96Gln Polymorphism rs34923393 -
CYP4F3 Q08477 VAR_048458 p.Tyr106Cys Polymorphism rs35888783 -
CYP4F8 P98187 VAR_038347 p.Tyr125Phe Polymorphism rs2072600 -
CYP4F8 P98187 VAR_038348 p.Pro447Gln Polymorphism rs2056822 -
CYP4V2 Q6ZWL3 VAR_023084 p.Trp44Arg Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
CYP4V2 Q6ZWL3 VAR_023085 p.Gly61Ser Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
CYP4V2 Q6ZWL3 VAR_023086 p.Glu79Asp Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
CYP4V2 Q6ZWL3 VAR_023087 p.Ile111Thr Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
CYP4V2 Q6ZWL3 VAR_023088 p.Met123Val Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
CYP4V2 Q6ZWL3 VAR_023089 p.His331Pro Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
CYP4V2 Q6ZWL3 VAR_023090 p.Ser341Pro Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
CYP4V2 Q6ZWL3 VAR_023091 p.Arg508His Disease - Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]
CYP4V2 Q6ZWL3 VAR_033821 p.Gln259Lys Polymorphism rs13146272 -
CYP4V2 Q6ZWL3 VAR_038606 p.Leu22Val Polymorphism rs1055138 -
CYP4V2 Q6ZWL3 VAR_038607 p.Ser213Asn Polymorphism rs34331648 -
CYP4V2 Q6ZWL3 VAR_055379 p.Glu275Lys Polymorphism rs34745240 -
CYP4V2 Q6ZWL3 VAR_055380 p.Val372Ile Polymorphism - -
CYP4V2 Q6ZWL3 VAR_055381 p.Arg443Gln Polymorphism - -
CYP4Z1 Q86W10 VAR_048461 p.Pro393Leu Polymorphism rs28463559 -
CYP51A1 Q16850 VAR_023470 p.Val13Ala Polymorphism rs2229188 -
CYP7A1 P22680 VAR_001259 p.Phe100Ser Polymorphism - -
CYP7A1 P22680 VAR_018376 p.Asn233Ser Polymorphism rs8192874 -
CYP7A1 P22680 VAR_018377 p.Asp347Asn Polymorphism rs8192875 -
CYP7A1 P22680 VAR_059152 p.His86Asn Polymorphism rs62621283 -
CYP7B1 O75881 VAR_044382 p.Gly57Arg Disease - Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]
CYP7B1 O75881 VAR_044383 p.Phe216Ser Disease - Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]
CYP7B1 O75881 VAR_044384 p.Ser363Phe Disease - Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]
CYP7B1 O75881 VAR_044385 p.Arg417His Disease - Spastic paraplegia autosomal recessive type 5A (SPG5A) [MIM:270800]
CYP8B1 Q9UNU6 VAR_010381 p.Arg234His Polymorphism - -
CYP8B1 Q9UNU6 VAR_055102 p.Ser88Pro Polymorphism rs9865715 -
CYP8B1 Q9UNU6 VAR_055103 p.Lys238Arg Polymorphism rs35764459 -
CYP8B1 Q9UNU6 VAR_055104 p.Leu357Phe Polymorphism rs35637877 -
CYR61 O00622 VAR_018934 p.Arg334Trp Polymorphism rs9658587 -
CYTH4 Q9UIA0 VAR_051920 p.Met74Val Polymorphism rs16998061 -
CYTIP O60759 VAR_023534 p.Asp37Asn Polymorphism rs1042038 -
CYTIP O60759 VAR_051287 p.Gln83Glu Polymorphism rs2229345 -
CYTIP O60759 VAR_064706 p.Pro329Ser Unclassified - -
CYTL1 Q9NRR1 VAR_050940 p.Ser51Leu Polymorphism rs35755546 -
CYTL1 Q9NRR1 VAR_050941 p.Arg136Cys Polymorphism rs11722554 -
CYYR1 Q96J86 VAR_044042 p.Arg95His Polymorphism rs35253087 -
CYYR1 Q96J86 VAR_044043 p.Pro111Ser Polymorphism - -
D2HGDH Q8N465 VAR_025889 p.Arg15Gly Polymorphism rs4675887 -
D2HGDH Q8N465 VAR_025890 p.Ile147Ser Disease - D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721]
D2HGDH Q8N465 VAR_025891 p.Asp375Tyr Disease - D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721]
D2HGDH Q8N465 VAR_025892 p.Gly436Val Polymorphism - -
D2HGDH Q8N465 VAR_025893 p.Asn439Asp Disease - D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721]
D2HGDH Q8N465 VAR_025894 p.Val444Ala Disease - D-2-hydroxyglutaric aciduria type 1 (D2HGA1) [MIM:600721]
D2HGDH Q8N465 VAR_050433 p.Val338Ile Polymorphism rs1106639 -
D2HGDH Q8N465 VAR_050434 p.Ala361Val Polymorphism rs1105273 -
DAAM2 Q86T65 VAR_055805 p.Arg105His Polymorphism rs6919807 -
DAAM2 Q86T65 VAR_055806 p.Arg617His Polymorphism rs34699846 -
DAB1 O75553 VAR_056857 p.Val71Ile Polymorphism rs1855377 -
DAB2 P98082 VAR_031705 p.Thr586Ile Polymorphism rs700241 -
DAB2 P98082 VAR_050942 p.Ser634Asn Polymorphism rs3733801 -
DAB2IP Q5VWQ8 VAR_056858 p.Ser59Phe Polymorphism rs7027492 -
DACT1 Q9NYF0 VAR_036461 p.Gly124Cys Unclassified - A colorectal cancer sample
DACT1 Q9NYF0 VAR_036462 p.Ser682Leu Unclassified - A colorectal cancer sample
DACT1 Q9NYF0 VAR_053057 p.Asp446Asn Polymorphism rs34015825 -
DACT1 Q9NYF0 VAR_053058 p.Ala464Val Polymorphism rs17832998 -
DACT1 Q9NYF0 VAR_053059 p.Ser628Ala Polymorphism rs17094821 -
DACT1 Q9NYF0 VAR_053060 p.Gly697Ser Polymorphism rs698025 -
DACT2 Q5SW24 VAR_059969 p.Glu351Gly Polymorphism rs6925614 -
DACT2 Q5SW24 VAR_059970 p.Thr541Pro Polymorphism rs10945501 -
DAD1 P61803 VAR_018825 p.Ala83Thr Polymorphism rs5742796 -
DAG1 Q14118 VAR_024335 p.Ser14Trp Polymorphism rs2131107 -
DAG1 Q14118 VAR_065266 p.Thr192Met Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C7 (MDDGC7) [MIM:613818]
DAGLA Q9Y4D2 VAR_027274 p.Pro889Leu Polymorphism rs3741252 -
DAGLA Q9Y4D2 VAR_049822 p.Gly735Val Polymorphism rs35056845 -
DAGLA Q9Y4D2 VAR_049823 p.Asp945Glu Polymorphism rs34956386 -
DAGLB Q8NCG7 VAR_027275 p.Gln664Arg Polymorphism rs2303361 -
DAK Q3LXA3 VAR_028108 p.Ala185Thr Polymorphism rs2260655 -
DAK Q3LXA3 VAR_054780 p.Ala334Gly Polymorphism rs35723406 -
DALRD3 Q5D0E6 VAR_038349 p.Gln299Arg Polymorphism rs3087866 -
DAOA P59103 VAR_014313 p.Arg30Lys Polymorphism rs2391191 -
DAOA P59103 VAR_050943 p.Lys62Glu Polymorphism rs9558562 -
DAP3 P51398 VAR_061811 p.Val240Phe Polymorphism rs57692591 -
DAPK1 P53355 VAR_033235 p.Val416Ile Polymorphism rs12343465 -
DAPK1 P53355 VAR_040420 p.Ala461Ser Polymorphism - -
DAPK1 P53355 VAR_040421 p.Ser519Ala Polymorphism - -
DAPK1 P53355 VAR_040422 p.Cys540Tyr Polymorphism rs56327474 -
DAPK1 P53355 VAR_040423 p.Met941Thr Polymorphism - -
DAPK1 P53355 VAR_040424 p.Arg977Trp Polymorphism - -
DAPK1 P53355 VAR_040425 p.Lys978Asn Polymorphism - -
DAPK1 P53355 VAR_040426 p.Tyr993Cys Polymorphism - -
DAPK1 P53355 VAR_040427 p.Asp994Glu Polymorphism - -
DAPK1 P53355 VAR_040428 p.Glu1005Gln Polymorphism - -
DAPK1 P53355 VAR_040429 p.Asp1007Tyr Polymorphism - -
DAPK1 P53355 VAR_040430 p.Leu1008Pro Polymorphism - -
DAPK1 P53355 VAR_040431 p.Arg1010Cys Polymorphism - -
DAPK1 P53355 VAR_040432 p.Thr1018Ala Polymorphism - -
DAPK1 P53355 VAR_040433 p.Met1272Ile Polymorphism rs56169226 -
DAPK1 P53355 VAR_040434 p.Ser1346Asn Polymorphism rs1056719 -
DAPK1 P53355 VAR_040435 p.Gly1405Val Polymorphism rs36220450 -
DAPK1 P53355 VAR_060693 p.Pro591Leu Polymorphism - -
DAPK1 P53355 VAR_060694 p.Ile622Met Polymorphism - -
DAPK2 Q9UIK4 VAR_040436 p.Arg60Trp Polymorphism rs56047843 -
DAPK2 Q9UIK4 VAR_040437 p.Arg271Trp Polymorphism rs34270163 -
DAPK3 O43293 VAR_040438 p.Thr112Met Unclassified - A colorectal adenocarcinoma sample
DAPK3 O43293 VAR_040439 p.Asp161Asn Unclassified - An ovarian mucinous carcinoma sample
DAPK3 O43293 VAR_040440 p.Pro216Ser Unclassified - A lung neuroendocrine carcinoma sample
DAPL1 A0PJW8 VAR_038402 p.Leu60Pro Polymorphism rs9869 -
DAPL1 A0PJW8 VAR_038403 p.Ala66Thr Polymorphism rs10497199 -
DARC Q16570 VAR_003480 p.Gly42Asp Polymorphism rs12075 -
DARC Q16570 VAR_015068 p.Arg89Cys Polymorphism rs34599082 -
DARC Q16570 VAR_015069 p.Ala100Thr Polymorphism rs13962 -
DARC Q16570 VAR_044116 p.Leu203Gln Polymorphism rs3027020 -
DARC Q16570 VAR_044117 p.Ser326Phe Polymorphism rs17851570 -
DARS P14868 VAR_027611 p.Leu426Phe Polymorphism rs1803165 -
DARS2 Q6PI48 VAR_027612 p.Leu10Val Polymorphism rs4427454 -
DARS2 Q6PI48 VAR_034525 p.Lys196Arg Polymorphism rs35515638 -
DARS2 Q6PI48 VAR_037015 p.Ser45Gly Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
DARS2 Q6PI48 VAR_037016 p.Cys152Phe Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
DARS2 Q6PI48 VAR_037017 p.Arg179His Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
DARS2 Q6PI48 VAR_037018 p.Gln184Lys Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
DARS2 Q6PI48 VAR_037019 p.Gln248Lys Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
DARS2 Q6PI48 VAR_037020 p.Arg263Gln Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
DARS2 Q6PI48 VAR_037021 p.Asp560Val Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
DARS2 Q6PI48 VAR_037022 p.Leu613Phe Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
DARS2 Q6PI48 VAR_037023 p.Leu626Gln Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
DARS2 Q6PI48 VAR_037024 p.Leu626Val Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
DARS2 Q6PI48 VAR_037025 p.Tyr629Cys Disease - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
DAZAP1 Q96EP5 VAR_035480 p.Ser381Thr Unclassified - A breast cancer sample
DAZAP2 Q15038 VAR_061639 p.Ser102Ala Polymorphism rs57917280 -
DAZL Q92904 VAR_017780 p.Thr12Ala Polymorphism rs11710967 -
DAZL Q92904 VAR_017781 p.Thr54Ala Unclassified - -
DBC1 O60477 VAR_024930 p.Ala437Thr Polymorphism rs1043377 -
DBC1 O60477 VAR_029989 p.Ser347Arg Polymorphism - -
DBC1 O60477 VAR_029990 p.Arg358His Polymorphism rs17476783 -
DBC1 O60477 VAR_036336 p.Pro712Thr Unclassified - A colorectal cancer sample
DBF4 Q9UBU7 VAR_052970 p.Tyr112Asn Polymorphism rs1476703 -
DBF4 Q9UBU7 VAR_052971 p.His575Arg Polymorphism rs2041049 -
DBH P09172 VAR_002196 p.Ala318Ser Polymorphism rs4531 -
DBH P09172 VAR_013947 p.Ala211Thr Polymorphism rs5320 -
DBH P09172 VAR_013948 p.Arg549Cys Polymorphism rs6271 -
DBH P09172 VAR_014706 p.Glu181Gln Polymorphism rs5319 -
DBH P09172 VAR_014707 p.Lys239Asn Polymorphism rs5321 -
DBH P09172 VAR_014708 p.Glu250Gln Polymorphism rs5323 -
DBH P09172 VAR_014709 p.Asp290Asn Polymorphism rs5324 -
DBH P09172 VAR_014710 p.Leu317Pro Polymorphism rs5325 -
DBH P09172 VAR_022758 p.Val101Met Disease - Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]
DBH P09172 VAR_022759 p.Asp114Glu Disease - Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]
DBH P09172 VAR_022760 p.Asp345Asn Disease - Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]
DBH P09172 VAR_048838 p.Gly12Ser Polymorphism rs5318 -
DBI P07108 VAR_048160 p.Asp39Asn Polymorphism rs8192504 -
DBI P07108 VAR_048161 p.Met71Val Polymorphism rs8192506 -
DBI P07108 VAR_048162 p.Gly86Arg Polymorphism rs8192507 -
DBN1 Q16643 VAR_035910 p.Glu278Lys Unclassified - A breast cancer sample
DBN1 Q16643 VAR_035911 p.Glu640Gln Unclassified - A breast cancer sample
DBN1 Q16643 VAR_047365 p.Ile446Val Polymorphism rs2544809 -
DBN1 Q16643 VAR_047366 p.Ser553Pro Polymorphism rs28538572 -
DBT P11182 VAR_004978 p.Phe276Cys Disease - Maple syrup urine disease type 2 (MSUD2) [MIM:248600]
DBT P11182 VAR_015099 p.Ile98Met Disease - Maple syrup urine disease type 2 (MSUD2) [MIM:248600]
DBT P11182 VAR_015100 p.Gly384Ser Disease rs12021720 Maple syrup urine disease type 2 (MSUD2) [MIM:248600]
DBX2 Q6ZNG2 VAR_034969 p.Met171Val Polymorphism rs2731038 -
DCAF11 Q8TEB1 VAR_020121 p.Arg207His Polymorphism rs3825584 -
DCAF12 Q5T6F0 VAR_035322 p.Arg131Gln Polymorphism rs11557154 -
DCAF12L1 Q5VU92 VAR_035323 p.Asp19Gly Polymorphism rs11095722 -
DCAF12L2 Q5VW00 VAR_062104 p.His147Gln Polymorphism rs10126452 -
DCAF13 Q9NV06 VAR_037035 p.Ile42Val Polymorphism rs3134253 -
DCAF13 Q9NV06 VAR_037036 p.Asn70Ser Polymorphism rs13272825 -
DCAF16 Q9NXF7 VAR_034917 p.Asn45Ser Polymorphism rs34085539 -
DCAF16 Q9NXF7 VAR_034918 p.Thr129Ile Polymorphism rs7690457 -
DCAF17 Q5H9S7 VAR_050711 p.His185Gln Polymorphism rs3731984 -
DCAF4 Q8WV16 VAR_027908 p.Trp22Cys Polymorphism rs2302588 -
DCAF4 Q8WV16 VAR_027909 p.Lys193Thr Polymorphism rs17856582 -
DCAF4 Q8WV16 VAR_027910 p.Asn266Ser Polymorphism rs7155812 -
DCAF4 Q8WV16 VAR_027911 p.Leu334Phe Polymorphism rs17856583 -
DCAF4 Q8WV16 VAR_027912 p.Ser345Cys Polymorphism rs3815460 -
DCAF4 Q8WV16 VAR_027913 p.Arg439Ile Polymorphism rs17856584 -
DCAF6 Q58WW2 VAR_035020 p.Val547Ala Polymorphism rs11558511 -
DCAF8L1 A6NGE4 VAR_038060 p.Arg549Trp Polymorphism rs12388557 -
DCAF8L2 P0C7V8 VAR_045620 p.Thr316Ala Polymorphism rs5926895 -
DCAKD Q8WVC6 VAR_038406 p.Asn84Ile Polymorphism rs17850104 -
DCBLD2 Q96PD2 VAR_050944 p.Ile144Met Polymorphism rs9838238 -
DCBLD2 Q96PD2 VAR_050945 p.Asp723Asn Polymorphism rs16840208 -
DCC P43146 VAR_003909 p.Met168Thr Unclassified - A esophageal carcinoma
DCC P43146 VAR_003910 p.Arg201Gly Polymorphism rs2229080 -
DCC P43146 VAR_003911 p.Pro1375His Unclassified - A colorectal carcinoma
DCC P43146 VAR_024495 p.Met1017Val Polymorphism rs984274 -
DCC P43146 VAR_035511 p.Phe1039Ser Unclassified - A colorectal cancer sample
DCC P43146 VAR_056043 p.Ile759Met Polymorphism rs2278339 -
DCC P43146 VAR_060257 p.Phe23Leu Polymorphism rs9951523 -
DCC P43146 VAR_060258 p.Leu679Arg Polymorphism rs2271042 -
DCC P43146 VAR_060259 p.His1191Leu Polymorphism rs2270950 -
DCDC1 P59894 VAR_033767 p.Val83Met Polymorphism rs2761591 -
DCDC1 P59894 VAR_037284 p.Glu7Gly Polymorphism rs11031357 -
DCDC2 Q9UHG0 VAR_022890 p.Ser221Gly Polymorphism rs2274305 -
DCDC2 Q9UHG0 VAR_050946 p.Pro152Ala Polymorphism rs33914824 -
DCDC2 Q9UHG0 VAR_050947 p.Lys456Asn Polymorphism rs9460973 -
DCHS1 Q96JQ0 VAR_036110 p.Arg1583Trp Unclassified - A colorectal cancer sample
DCHS1 Q96JQ0 VAR_048577 p.Thr1949Met Polymorphism rs4758443 -
DCHS1 Q96JQ0 VAR_048578 p.Val2331Ile Polymorphism rs7924553 -
DCHS1 Q96JQ0 VAR_048579 p.Arg2359Cys Polymorphism rs2659875 -
DCHS1 Q96JQ0 VAR_061074 p.Leu2172Gln Polymorphism rs56920123 -
DCHS2 Q6V1P9 VAR_044362 p.Val153Ala Polymorphism rs11721758 -
DCHS2 Q6V1P9 VAR_044363 p.His174Arg Polymorphism rs10017772 -
DCHS2 Q6V1P9 VAR_044364 p.Ser344Leu Polymorphism rs6858712 -
DCHS2 Q6V1P9 VAR_044365 p.Val827Ile Polymorphism rs7666283 -
DCHS2 Q6V1P9 VAR_044366 p.Asn897Ser Polymorphism rs1352714 -
DCHS2 Q6V1P9 VAR_044367 p.Ser1205Leu Polymorphism rs11935573 -
DCHS2 Q6V1P9 VAR_044368 p.Thr1480Arg Polymorphism rs17031394 -
DCHS2 Q6V1P9 VAR_044369 p.Thr2112Met Polymorphism rs17031279 -
DCHS2 Q6V1P9 VAR_044370 p.Ser2303Asn Polymorphism rs6824133 -
DCHS2 Q6V1P9 VAR_061075 p.Glu1595Gln Polymorphism rs28561984 -
DCLK1 O15075 VAR_045673 p.Gly29Cys Unclassified - A gastric adenocarcinoma sample
DCLK1 O15075 VAR_045674 p.Thr46Met Unclassified - A gastric adenocarcinoma sample
DCLK1 O15075 VAR_045675 p.Arg93Gln Unclassified - A gastric adenocarcinoma sample
DCLK1 O15075 VAR_045676 p.Ser291Phe Unclassified - A gastric adenocarcinoma sample
DCLK1 O15075 VAR_045677 p.Arg292His Polymorphism rs56185003 -
DCLK2 Q8N568 VAR_040441 p.Gly119Cys Polymorphism rs56327537 -
DCLK2 Q8N568 VAR_040442 p.Arg372His Polymorphism rs34386880 -
DCLK2 Q8N568 VAR_040443 p.Ile583Val Polymorphism rs35745104 -
DCLK3 Q9C098 VAR_040444 p.Arg24Gln Polymorphism rs56070233 -
DCLK3 Q9C098 VAR_040445 p.Pro108Leu Unclassified - A breast infiltrating ductal carcinoma sample
DCLK3 Q9C098 VAR_040446 p.Glu422Lys Unclassified - A colorectal adenocarcinoma sample
DCLK3 Q9C098 VAR_040447 p.Ser472Asn Unclassified - A lung large cell carcinoma sample
DCLK3 Q9C098 VAR_040448 p.Arg554Cys Unclassified - A lung squamous cell carcinoma sample
DCLK3 Q9C098 VAR_040449 p.Gly570Arg Unclassified - A renal clear cell carcinoma sample
DCLK3 Q9C098 VAR_040450 p.Val596Ala Unclassified - A colorectal adenocarcinoma sample
DCLK3 Q9C098 VAR_040451 p.Glu633Asp Polymorphism rs35704209 -
DCLRE1A Q6PJP8 VAR_023286 p.Lys58Glu Polymorphism rs17235066 -
DCLRE1A Q6PJP8 VAR_023287 p.Glu59Asp Polymorphism rs17228665 -
DCLRE1A Q6PJP8 VAR_023288 p.Gly71Asp Polymorphism rs17228672 -
DCLRE1A Q6PJP8 VAR_023289 p.Pro287Leu Polymorphism rs17235094 -
DCLRE1A Q6PJP8 VAR_023290 p.Asp317His Polymorphism rs3750898 -
DCLRE1A Q6PJP8 VAR_023291 p.Ile859Phe Polymorphism rs11196530 -
DCLRE1A Q6PJP8 VAR_030574 p.Gly582Trp Polymorphism rs17855759 -
DCLRE1B Q9H816 VAR_023292 p.Arg46Leu Polymorphism rs28381069 -
DCLRE1B Q9H816 VAR_023293 p.His61Tyr Polymorphism rs11552449 -
DCLRE1B Q9H816 VAR_023294 p.Asp462Asn Polymorphism rs28381079 -
DCLRE1B Q9H816 VAR_048891 p.Asn510Tyr Polymorphism rs35397235 -
DCLRE1C Q96SD1 VAR_023077 p.His35Asp Disease - Omenn syndrome (OS) [MIM:603554]
DCLRE1C Q96SD1 VAR_023078 p.Gly118Val Unclassified - -
DCLRE1C Q96SD1 VAR_023079 p.Gly135Glu Unclassified - -
DCLRE1C Q96SD1 VAR_048892 p.Pro171Arg Polymorphism rs35441642 -
DCLRE1C Q96SD1 VAR_048893 p.His243Arg Polymorphism rs12768894 -
DCLRE1C Q96SD1 VAR_048894 p.Ser320Cys Polymorphism rs41298896 -
DCLRE1C Q96SD1 VAR_060689 p.Ala140Val Polymorphism - -
DCLRE1C Q96SD1 VAR_060690 p.Gly153Arg Polymorphism - -
DCLRE1C Q96SD1 VAR_060691 p.Leu329Met Polymorphism - -
DCN P07585 VAR_011975 p.Glu273Gln Polymorphism rs1803344 -
DCN P07585 VAR_014351 p.Thr268Met Polymorphism rs3138268 -
DCNP1 Q8TF63 VAR_025758 p.Thr75Pro Polymorphism rs1031844 -
DCNP1 Q8TF63 VAR_025759 p.Asn97Asp Polymorphism rs12520809 -
DCP1B Q8IZD4 VAR_047395 p.Asn195Asp Polymorphism rs12423058 -
DCP1B Q8IZD4 VAR_047396 p.Asn216Ser Polymorphism rs34730825 -
DCP1B Q8IZD4 VAR_047397 p.Ser301Thr Polymorphism rs2470449 -
DCP1B Q8IZD4 VAR_047398 p.Arg344His Polymorphism rs715146 -
DCP2 Q8IU60 VAR_059528 p.Phe16Leu Polymorphism rs33555 -
DCPS Q96C86 VAR_027958 p.Gly73Glu Polymorphism rs11557735 -
DCST1 Q5T197 VAR_030868 p.Met512Leu Polymorphism rs11264300 -
DCST1 Q5T197 VAR_056859 p.Thr158Ile Polymorphism rs9427170 -
DCTN1 Q14203 VAR_001373 p.Ala163Pro Polymorphism - -
DCTN1 Q14203 VAR_015850 p.Gly59Ser Disease - Distal hereditary motor neuronopathy type 7B (HMN7B) [MIM:607641]
DCTN1 Q14203 VAR_048677 p.Leu287Met Polymorphism rs13420401 -
DCTN1 Q14203 VAR_048678 p.Arg495Gln Polymorphism rs17721059 -
DCTN1 Q14203 VAR_063867 p.Gly71Ala Disease - Perry syndrome (PERRYS) [MIM:168605]
DCTN1 Q14203 VAR_063868 p.Gly71Glu Disease - Perry syndrome (PERRYS) [MIM:168605]
DCTN1 Q14203 VAR_063869 p.Gly71Arg Disease - Perry syndrome (PERRYS) [MIM:168605]
DCTN1 Q14203 VAR_063870 p.Thr72Pro Disease - Perry syndrome (PERRYS) [MIM:168605]
DCTN1 Q14203 VAR_063871 p.Gln74Pro Disease - Perry syndrome (PERRYS) [MIM:168605]
DCTN1 Q14203 VAR_063872 p.Met571Thr Unclassified - -
DCTN1 Q14203 VAR_063873 p.Arg785Trp Unclassified - -
DCTN1 Q14203 VAR_063874 p.Arg1101Lys Unclassified - -
DCTN1 Q14203 VAR_063875 p.Thr1249Ile Unclassified - -
DCTN4 Q9UJW0 VAR_024336 p.Phe342Leu Polymorphism rs11954652 -
DCTN4 Q9UJW0 VAR_024337 p.Ser438Asn Polymorphism rs3733923 -
DCTN4 Q9UJW0 VAR_033847 p.Tyr263Cys Polymorphism rs35772018 -
DCTN4 Q9UJW0 VAR_054037 p.Pro95Thr Polymorphism rs11550931 -
DCX O43602 VAR_007819 p.Leu124Ser Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_007820 p.Ser128Arg Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_007820 p.Ser128Arg Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007821 p.Arg140Leu Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_007821 p.Arg140Leu Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007822 p.Arg140His Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007823 p.Asp143Asn Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_007823 p.Asp143Asn Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007824 p.Arg159Leu Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007825 p.Asp167His Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007826 p.Gly181Ala Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_007826 p.Gly181Ala Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007827 p.Arg183Ser Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_007828 p.Tyr206His Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_007828 p.Tyr206His Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007829 p.Tyr206Asp Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007830 p.Arg259Leu Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007831 p.Arg267Cys Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007832 p.Pro272Arg Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007833 p.Arg273Trp Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_007833 p.Arg273Trp Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007834 p.Asn281Lys Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007835 p.Thr284Arg Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_007835 p.Thr284Arg Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007836 p.Ile295Thr Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007837 p.Thr303Ile Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007838 p.Gly304Glu Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007839 p.Val317Ile Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007840 p.Ile331Asn Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007841 p.Ile331Thr Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_007842 p.Gly334Asp Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_010202 p.Arg159His Unclassified - -
DCX O43602 VAR_010536 p.Arg170Gly Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_026022 p.Thr123Ile Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_026023 p.Lys131Asn Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_026024 p.Asn141Asp Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_026025 p.Gly148Glu Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_026026 p.Ala152Ser Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_026027 p.Leu178Arg Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_026028 p.Ile185Thr Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_026029 p.Arg259Cys Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_026030 p.Pro272Leu Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_026031 p.Arg277His Disease rs56030372 Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_026032 p.Arg277Ser Unclassified - -
DCX O43602 VAR_026033 p.Asn281Ile Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_026034 p.Thr284Ala Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_026035 p.Gly304Val Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_026036 p.Phe324Leu Disease - Lissencephaly X-linked type 1 (LISX1) [MIM:300067]
DCX O43602 VAR_026037 p.Ala332Ser Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DCX O43602 VAR_026038 p.Ala332Val Disease - Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
DDB1 Q16531 VAR_023074 p.Leu427Phe Polymorphism rs28720299 -
DDB2 Q92466 VAR_010141 p.Lys244Glu Disease - Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]
DDB2 Q92466 VAR_010142 p.Arg273His Disease - Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]
DDB2 Q92466 VAR_016337 p.Met215Thr Polymorphism rs4647750 -
DDB2 Q92466 VAR_016338 p.Ala293Thr Polymorphism rs4647751 -
DDC P20711 VAR_014788 p.Met17Val Polymorphism rs6264 -
DDC P20711 VAR_014789 p.Pro210Leu Polymorphism rs6262 -
DDC P20711 VAR_014790 p.Met217Val Polymorphism rs6263 -
DDC P20711 VAR_019214 p.Glu61Asp Polymorphism rs11575292 -
DDC P20711 VAR_019215 p.Met239Ile Polymorphism rs11575377 -
DDC P20711 VAR_019216 p.Met239Leu Polymorphism rs11575376 -
DDC P20711 VAR_019217 p.Arg462Gln Polymorphism rs11575542 -
DDC P20711 VAR_019309 p.Gly102Ser Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
DDC P20711 VAR_046137 p.Pro47His Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
DDC P20711 VAR_046138 p.Ala91Val Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
DDC P20711 VAR_046139 p.Ser147Arg Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
DDC P20711 VAR_046140 p.Ser250Phe Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
DDC P20711 VAR_046141 p.Ala275Thr Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
DDC P20711 VAR_046142 p.Phe309Leu Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
DDC P20711 VAR_046143 p.Arg347Gln Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
DDC P20711 VAR_046144 p.Leu408Ile Disease - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
DDHD2 O94830 VAR_036930 p.Thr186Met Polymorphism rs2306899 -
DDI1 Q8WTU0 VAR_032259 p.Gly136Ser Polymorphism rs7102675 -
DDI1 Q8WTU0 VAR_032260 p.Ser142Gly Polymorphism rs17856633 -
DDI1 Q8WTU0 VAR_032261 p.Gly239Glu Polymorphism rs17851870 -
DDIT3 P35638 VAR_036000 p.Ala115Val Unclassified - A colorectal cancer sample
DDIT4L Q96D03 VAR_053971 p.Ser161Phe Polymorphism rs11553154 -
DDN O94850 VAR_059651 p.Glu661Gly Polymorphism rs10783299 -
DDO Q99489 VAR_014939 p.Gln189Glu Polymorphism rs17622 -
DDO Q99489 VAR_014940 p.His230Tyr Polymorphism rs17621 -
DDO Q99489 VAR_014941 p.Leu255Arg Polymorphism rs17623 -
DDO Q99489 VAR_036244 p.Phe136Leu Unclassified - A breast cancer sample
DDOST P39656 VAR_047911 p.Arg8Gly Polymorphism rs537816 -
DDR1 Q08345 VAR_041492 p.Ser17Gly Polymorphism rs55901302 -
DDR1 Q08345 VAR_041493 p.Val100Ala Polymorphism rs34544756 -
DDR1 Q08345 VAR_041494 p.Arg169Gln Polymorphism rs55980643 -
DDR1 Q08345 VAR_041495 p.Ala170Asp Polymorphism rs56231803 -
DDR1 Q08345 VAR_041496 p.Arg306Trp Polymorphism rs56024191 -
DDR1 Q08345 VAR_041497 p.Ser496Ala Unclassified - A lung squamous cell carcinoma sample
DDR1 Q08345 VAR_049716 p.Leu833Val Polymorphism rs2524235 -
DDR2 Q16832 VAR_041498 p.Arg105Ser Unclassified - A lung large cell carcinoma sample
DDR2 Q16832 VAR_041499 p.Met441Ile Polymorphism rs34722354 -
DDR2 Q16832 VAR_041500 p.Arg478Cys Polymorphism rs34869543 -
DDR2 Q16832 VAR_041501 p.Val543Phe Polymorphism rs55973200 -
DDR2 Q16832 VAR_063050 p.Thr713Ile Disease - Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
DDR2 Q16832 VAR_063051 p.Ile726Arg Disease - Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
DDR2 Q16832 VAR_063052 p.Arg752Cys Disease - Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
DDR2 Q16832 VAR_065719 p.Glu113Lys Disease - Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
DDRGK1 Q96HY6 VAR_016923 p.Ala303Thr Polymorphism rs11591 -
DDX10 Q13206 VAR_035840 p.Leu566Val Unclassified - A breast cancer sample
DDX11 Q96FC9 VAR_024808 p.Ile39Ser Polymorphism rs1046454 -
DDX11 Q96FC9 VAR_024809 p.Gln567Glu Polymorphism rs2075322 -
DDX11 Q96FC9 VAR_024810 p.Thr575Met Polymorphism rs17857386 -
DDX11 Q96FC9 VAR_052175 p.Arg856His Polymorphism rs1046457 -
DDX11 Q96FC9 VAR_052176 p.Cys864Arg Polymorphism rs3893679 -
DDX11 Q96FC9 VAR_052177 p.Cys951Arg Polymorphism rs1046458 -
DDX11 Q96FC9 VAR_052178 p.Trp966Cys Polymorphism rs14330 -
DDX18 Q9NVP1 VAR_013293 p.Thr94Ser Polymorphism rs1052637 -
DDX18 Q9NVP1 VAR_033857 p.Lys647Arg Polymorphism rs10179772 -
DDX18 Q9NVP1 VAR_035841 p.Gly41Arg Unclassified - A breast cancer sample
DDX19B Q9UMR2 VAR_052160 p.Val149Leu Polymorphism rs34607244 -
DDX20 Q9UHI6 VAR_057231 p.Ile636Thr Polymorphism rs197412 -
DDX20 Q9UHI6 VAR_057232 p.Arg693Ser Polymorphism rs197414 -
DDX20 Q9UHI6 VAR_057233 p.Ile762Thr Polymorphism rs85276 -
DDX21 Q9NR30 VAR_052161 p.Thr27Ile Polymorphism rs17556220 -
DDX24 Q9GZR7 VAR_052162 p.Glu316Lys Polymorphism rs35413935 -
DDX27 Q96GQ7 VAR_022849 p.Gly766Ser Polymorphism rs1130146 -
DDX28 Q9NUL7 VAR_052163 p.Thr4Ala Polymorphism rs237831 -
DDX31 Q9H8H2 VAR_023065 p.Ile799Val Polymorphism rs306547 -
DDX31 Q9H8H2 VAR_023066 p.Arg843Gln Polymorphism rs306548 -
DDX31 Q9H8H2 VAR_052164 p.Glu153Lys Polymorphism rs17402080 -
DDX31 Q9H8H2 VAR_052165 p.Arg687Gln Polymorphism rs34246652 -
DDX39A O00148 VAR_052166 p.Val142Ile Polymorphism rs36127505 -
DDX3X O00571 VAR_035839 p.Arg294Thr Unclassified - A breast cancer sample
DDX4 Q9NQI0 VAR_019574 p.Gly148Asp Polymorphism rs2306259 -
DDX4 Q9NQI0 VAR_052159 p.Ile287Val Polymorphism rs2305123 -
DDX43 Q9NXZ2 VAR_057234 p.Lys625Glu Polymorphism rs311686 -
DDX43 Q9NXZ2 VAR_057235 p.Gln629Arg Polymorphism rs311685 -
DDX46 Q7L014 VAR_028079 p.Glu207Gln Polymorphism rs10447293 -
DDX49 Q9Y6V7 VAR_033858 p.Arg222His Polymorphism rs35802425 -
DDX49 Q9Y6V7 VAR_033859 p.Ser296Ala Polymorphism rs35614860 -
DDX49 Q9Y6V7 VAR_052167 p.Arg413Trp Polymorphism rs16995781 -
DDX5 P17844 VAR_029241 p.Ser480Ala Polymorphism rs1140409 -
DDX51 Q8N8A6 VAR_055299 p.Arg41Gln Polymorphism rs17857214 -
DDX51 Q8N8A6 VAR_055300 p.Glu134Val Polymorphism rs17855642 -
DDX51 Q8N8A6 VAR_055301 p.Gln175Lys Polymorphism rs17855639 -
DDX51 Q8N8A6 VAR_055302 p.Pro249Leu Polymorphism rs17857213 -
DDX51 Q8N8A6 VAR_055303 p.Gln295Arg Polymorphism rs1133690 -
DDX51 Q8N8A6 VAR_055304 p.Gln406Lys Polymorphism rs17853968 -
DDX51 Q8N8A6 VAR_055305 p.Gln652Lys Polymorphism rs17853969 -
DDX51 Q8N8A6 VAR_061825 p.Ala322Val Polymorphism rs60927391 -
DDX52 Q9Y2R4 VAR_060235 p.Met403Val Polymorphism rs7216445 -
DDX53 Q86TM3 VAR_052168 p.Val62Ala Polymorphism rs4412516 -
DDX53 Q86TM3 VAR_052169 p.Met381Ile Polymorphism rs5925720 -
DDX53 Q86TM3 VAR_052170 p.Arg391Met Polymorphism rs5926203 -
DDX53 Q86TM3 VAR_064707 p.Asn141Thr Unclassified - -
DDX54 Q8TDD1 VAR_033860 p.Pro821Leu Polymorphism rs1048889 -
DDX54 Q8TDD1 VAR_052171 p.Arg570His Polymorphism rs35519289 -
DDX54 Q8TDD1 VAR_052172 p.Arg693Gln Polymorphism rs11564 -
DDX54 Q8TDD1 VAR_052173 p.Val712Ala Polymorphism rs10354 -
DDX55 Q8NHQ9 VAR_027789 p.Val101Leu Polymorphism rs17881657 -
DDX55 Q8NHQ9 VAR_027790 p.Glu154Gly Polymorphism rs17886035 -
DDX55 Q8NHQ9 VAR_027791 p.Asn264Ser Polymorphism rs11057306 -
DDX55 Q8NHQ9 VAR_027792 p.Asn556Ser Polymorphism rs10773019 -
DDX58 O95786 VAR_023747 p.Arg7Cys Polymorphism rs10813831 -
DDX58 O95786 VAR_023748 p.Asp580Glu Polymorphism rs17217280 -
DDX59 Q5T1V6 VAR_031424 p.Ile107Val Polymorphism rs3795634 -
DDX59 Q5T1V6 VAR_033001 p.Ser472Arg Polymorphism rs17854157 -
DDX59 Q5T1V6 VAR_035842 p.Pro77Thr Unclassified - A breast cancer sample
DDX60 Q8IY21 VAR_055895 p.Val672Met Polymorphism rs550625 -
DDX60 Q8IY21 VAR_055896 p.Ile998Val Polymorphism rs576619 -
DDX60L Q5H9U9 VAR_055897 p.Cys336Tyr Polymorphism rs12507582 -
DDX60L Q5H9U9 VAR_055898 p.Asn355Lys Polymorphism rs10029536 -
DDX60L Q5H9U9 VAR_055899 p.Val409Leu Polymorphism rs13151700 -
DDX60L Q5H9U9 VAR_055900 p.Ala583Thr Polymorphism rs2319850 -
DDX60L Q5H9U9 VAR_055901 p.Ser1080Cys Polymorphism rs17540213 -
DEAF1 O75398 VAR_013725 p.Glu186Val Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013726 p.Lys191Ile Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013727 p.Lys191Asn Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013729 p.Glu202Asp Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013730 p.Arg218Lys Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013732 p.Glu356His Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013733 p.Ser364Asn Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013734 p.Gln367His Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013735 p.Val370Leu Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013736 p.Tyr397Phe Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013737 p.Val442Ala Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013738 p.Glu449Lys Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013740 p.Gln468His Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013741 p.His479Leu Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013742 p.Glu498Lys Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013743 p.Thr526Asn Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013744 p.Arg530Leu Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013746 p.Gln542His Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013747 p.Ala545Gly Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_013748 p.Ala545Val Unclassified - A primary colorectal cancer
DEAF1 O75398 VAR_065089 p.Ile228Ser Unclassified - -
DEC1 Q9P2X7 VAR_050948 p.Ala60Val Polymorphism rs2269700 -
DECR1 Q16698 VAR_012034 p.Lys333Asn Polymorphism rs15094 -
DEF6 Q9H4E7 VAR_033193 p.Asn287Thr Polymorphism rs2395617 -
DEF6 Q9H4E7 VAR_033194 p.Arg578His Polymorphism rs9296146 -
DEF8 Q6ZN54 VAR_061485 p.Gln90Glu Polymorphism rs7194844 -
DEFA4 P12838 VAR_036315 p.Arg74Gln Unclassified - A colorectal cancer sample
DEFA4 P12838 VAR_048861 p.Ala8Pro Polymorphism rs28661751 -
DEFA4 P12838 VAR_061132 p.Ala8Val Polymorphism rs28488529 -
DEFA5 Q01523 VAR_059245 p.Arg71His Polymorphism rs7839771 -
DEFB1 P60022 VAR_014925 p.Ala48Val Polymorphism rs1800967 -
DEFB1 P60022 VAR_014926 p.Cys67Ser Polymorphism rs1800968 -
DEFB1 P60022 VAR_018405 p.Val38Ile Polymorphism rs2738047 -
DEFB104A Q8WTQ1 VAR_024767 p.Ile10Val Polymorphism rs2680507 -
DEFB108B Q8NET1 VAR_048862 p.Arg36Trp Polymorphism rs12793731 -
DEFB108B Q8NET1 VAR_059246 p.Ile27Val Polymorphism rs12285436 -
DEFB108B Q8NET1 VAR_059247 p.His45Leu Polymorphism rs12285495 -
DEFB108B Q8NET1 VAR_059248 p.Gln53Arg Polymorphism rs7120658 -
DEFB116 Q30KQ4 VAR_048863 p.Gln19Leu Polymorphism rs6119768 -
DEFB118 Q96PH6 VAR_061133 p.Ile56Val Polymorphism rs34173055 -
DEFB125 Q8N687 VAR_061134 p.His62Tyr Polymorphism rs41276376 -
DEFB127 Q9H1M4 VAR_048864 p.Gly31Arg Polymorphism rs12624954 -
DEFB127 Q9H1M4 VAR_048865 p.Arg71Ser Polymorphism rs16995685 -
DEFB128 Q7Z7B8 VAR_048866 p.Lys27Asn Polymorphism rs4813043 -
DEFB129 Q9H1M3 VAR_024327 p.Thr149Ser Polymorphism rs1053783 -
DEGS2 Q6QHC5 VAR_055698 p.Ala57Thr Polymorphism rs4905937 -
DEGS2 Q6QHC5 VAR_060347 p.Ser8Asn Polymorphism rs7157599 -
DEK P35659 VAR_050949 p.Val140Ala Polymorphism rs17336208 -
DEM1 Q9H790 VAR_035407 p.Asp115Asn Polymorphism rs1134586 -
DEM1 Q9H790 VAR_035408 p.Gly172Val Polymorphism rs11208299 -
DENND1B Q6P3S1 VAR_035055 p.Val216Met Polymorphism rs7546381 -
DENND1C Q8IV53 VAR_035056 p.Ala23Thr Polymorphism rs10416003 -
DENND1C Q8IV53 VAR_035057 p.Arg489Cys Polymorphism rs35001260 -
DENND1C Q8IV53 VAR_035058 p.Ala542Val Polymorphism rs35810378 -
DENND2A Q9ULE3 VAR_026856 p.Pro156His Polymorphism rs269243 -
DENND2A Q9ULE3 VAR_026857 p.Glu729Lys Polymorphism rs2293177 -
DENND2A Q9ULE3 VAR_026858 p.Ile777Thr Polymorphism rs6464833 -
DENND2C Q68D51 VAR_026859 p.Asp2Glu Polymorphism rs7541738 -
DENND2C Q68D51 VAR_026860 p.Asp170Gly Polymorphism rs12136548 -
DENND2D Q9H6A0 VAR_050950 p.Ser282Asn Polymorphism rs35742969 -
DENND3 A2RUS2 VAR_035053 p.Ser143Asn Polymorphism rs307761 -
DENND3 A2RUS2 VAR_035054 p.Gln364Arg Polymorphism rs11997191 -
DENND4A Q7Z401 VAR_025362 p.Leu284Pro Polymorphism rs17854146 -
DENND4C Q5VZ89 VAR_022891 p.Thr1030Ala Polymorphism rs17818730 -
DENND4C Q5VZ89 VAR_022892 p.Asn1107His Polymorphism rs6475322 -
DENND4C Q5VZ89 VAR_061640 p.Val991Gly Polymorphism rs34267952 -
DENND5A Q6IQ26 VAR_028409 p.Glu224Gln Polymorphism rs952374 -
DENND5B Q6ZUT9 VAR_040076 p.Arg52Lys Polymorphism rs4930979 -
DENND5B Q6ZUT9 VAR_040077 p.His487Asn Polymorphism rs1056320 -
DEPDC1 Q5TB30 VAR_059798 p.Ile404Arg Polymorphism rs3790479 -
DEPDC1B Q8WUY9 VAR_031819 p.Arg332Met Polymorphism rs17856590 -
DEPDC1B Q8WUY9 VAR_031820 p.Val395Leu Polymorphism rs17851707 -
DEPDC4 Q8N2C3 VAR_031815 p.His122Arg Polymorphism rs7307415 -
DEPDC5 O75140 VAR_024338 p.Ser491Thr Polymorphism rs8138516 -
DEPDC5 O75140 VAR_053953 p.Ala641Val Polymorphism rs16989528 -
DEPDC5 O75140 VAR_053954 p.Ser712Phe Polymorphism rs16989535 -
DEPDC7 Q96QD5 VAR_053972 p.Ala192Thr Polymorphism rs34161108 -
DEPDC7 Q96QD5 VAR_062212 p.Thr464Ile Polymorphism rs17852859 -
DEPP Q9NTK1 VAR_050951 p.Ile44Met Polymorphism rs11555140 -
DEPTOR Q8TB45 VAR_031816 p.Asn148Ser Polymorphism rs34057546 -
DEPTOR Q8TB45 VAR_031817 p.Asn204Ser Polymorphism rs2271900 -
DEPTOR Q8TB45 VAR_031818 p.Ser389Asn Polymorphism rs4871827 -
DERL1 Q9BUN8 VAR_019516 p.Ile171Val Polymorphism rs2272722 -
DERL3 Q96Q80 VAR_019517 p.Ala211Val Polymorphism rs1128127 -
DERL3 Q96Q80 VAR_048897 p.Phe149Leu Polymorphism rs3177243 -
DERP6 Q8TE02 VAR_031205 p.Asp303Tyr Polymorphism rs17849664 -
DERP6 Q8TE02 VAR_053882 p.Glu14Lys Polymorphism rs2521988 -
DES P17661 VAR_007900 p.Ala337Pro Disease rs59962885 Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_007901 p.Ala360Pro Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_007902 p.Asn393Ile Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_009189 p.Leu345Pro Disease rs57639980 Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_018771 p.Leu385Pro Disease rs57955682 Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_018772 p.Gln389Pro Disease rs28930075 Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_018773 p.Ile451Met Disease - Cardiomyopathy dilated type 1I (CMD1I) [MIM:604765]
DES P17661 VAR_042448 p.Ser2Ile Disease rs58999456 Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042449 p.Ser46Phe Disease rs60794845 Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042450 p.Ser46Tyr Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042451 p.Ala213Val Disease rs41272699 Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042452 p.Glu245Asp Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042453 p.Asn342Asp Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042454 p.Arg350Pro Disease rs57965306 Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042454 p.Arg350Pro Disease rs57965306 Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]
DES P17661 VAR_042455 p.Arg355Pro Disease rs61368398 Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042456 p.Ala357Pro Disease rs58898021 Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042457 p.Leu370Pro Disease rs59308628 Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042458 p.Arg406Trp Disease rs61726465 Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042459 p.Thr442Ile Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042460 p.Lys449Met Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042461 p.Lys449Thr Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042462 p.Arg454Trp Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DES P17661 VAR_042463 p.Ser460Ile Disease - Myopathy myofibrillar type 1 (MFM1) [MIM:601419]
DFFB O76075 VAR_009305 p.Arg196Lys Polymorphism rs12738235 -
DFFB O76075 VAR_048737 p.Lys277Arg Polymorphism rs12564400 -
DFNA5 O60443 VAR_030824 p.Pro142Thr Polymorphism rs754554 -
DFNA5 O60443 VAR_030825 p.Val207Met Polymorphism rs12540919 -
DFNA5 O60443 VAR_053102 p.Met174Thr Polymorphism rs876306 -
DGAT2 Q96PD7 VAR_033864 p.Arg317Gly Polymorphism rs34421064 -
DGAT2 Q96PD7 VAR_033865 p.Met361Ile Polymorphism rs34113941 -
DGCR14 Q96DF8 VAR_015117 p.Ala31Val Polymorphism - -
DGCR14 Q96DF8 VAR_015118 p.Val336Met Polymorphism rs17743887 -
DGCR14 Q96DF8 VAR_015119 p.Ala423Val Polymorphism rs712965 -
DGCR2 P98153 VAR_020046 p.Val473Ala Polymorphism rs2072123 -
DGCR6 Q14129 VAR_033866 p.Ala117Val Polymorphism rs16983281 -
DGCR6L Q9BY27 VAR_055870 p.Val115Leu Polymorphism rs1056818 -
DGCR6L Q9BY27 VAR_055871 p.Asn195Lys Polymorphism rs1056804 -
DGCR8 Q8WYQ5 VAR_050952 p.Ile174Val Polymorphism rs35987994 -
DGCR8 Q8WYQ5 VAR_050953 p.Asn725Asp Polymorphism rs11546015 -
DGKA P23743 VAR_031563 p.His538Tyr Polymorphism rs17852990 -
DGKB Q9Y6T7 VAR_048858 p.Gly789Ser Polymorphism rs34616903 -
DGKE P52429 VAR_036120 p.Leu99Arg Unclassified - A breast cancer sample
DGKG P49619 VAR_020259 p.Thr142Ser Polymorphism rs1004588 -
DGKG P49619 VAR_020260 p.Arg370Trp Polymorphism rs3213770 -
DGKG P49619 VAR_024430 p.Arg316Lys Polymorphism rs2193587 -
DGKG P49619 VAR_036119 p.Glu706Lys Unclassified - A breast cancer sample
DGKH Q86XP1 VAR_033867 p.Val1201Ala Polymorphism rs17646069 -
DGKI O75912 VAR_010190 p.Leu153Phe Polymorphism - -
DGKK Q5KSL6 VAR_048859 p.Asp1118Asn Polymorphism rs4074320 -
DGKQ P52824 VAR_058478 p.Pro27Leu Polymorphism rs17855876 -
DGKZ Q13574 VAR_047371 p.Gln21Arg Polymorphism rs1317826 -
DGKZ Q13574 VAR_061131 p.Gly69Cys Polymorphism rs901998 -
DGUOK Q16854 VAR_019417 p.Arg142Lys Disease - Mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:251880]
DGUOK Q16854 VAR_019418 p.Glu227Lys Disease - Mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:251880]
DGUOK Q16854 VAR_023789 p.Leu250Ser Disease - Mitochondrial DNA depletion syndrome type 3 (MTDPS3) [MIM:251880]
DHCR24 Q15392 VAR_012732 p.Glu191Lys Disease rs28939093 Desmosterolosis (DESMOS) [MIM:602398]
DHCR24 Q15392 VAR_012733 p.Asn294Thr Disease - Desmosterolosis (DESMOS) [MIM:602398]
DHCR24 Q15392 VAR_012734 p.Lys306Asn Disease - Desmosterolosis (DESMOS) [MIM:602398]
DHCR24 Q15392 VAR_012735 p.Tyr471Ser Disease rs28939092 Desmosterolosis (DESMOS) [MIM:602398]
DHCR7 Q9UBM7 VAR_012717 p.Pro51Ser Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_012718 p.Thr93Met Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_012719 p.Leu99Pro Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_012720 p.His119Leu Disease rs28938174 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_012721 p.Leu157Pro Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_012722 p.Gly244Arg Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_012723 p.Ala247Val Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_012724 p.Trp248Cys Disease rs28939698 Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_012725 p.Thr289Ile Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_012726 p.Val326Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_012727 p.Arg352Trp Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_012728 p.Cys380Ser Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_012729 p.Arg404Cys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_012730 p.Gly410Ser Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_016975 p.Glu448Lys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023148 p.Leu68Pro Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023149 p.Gln107His Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023150 p.Leu109Pro Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023151 p.Ser113Cys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023152 p.Gly138Val Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023153 p.Ile145Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023154 p.Gly147Asp Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023155 p.Thr154Met Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023156 p.Ser169Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023157 p.Trp182Cys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023158 p.Trp182Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023159 p.Cys183Tyr Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023160 p.Lys198Glu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023161 p.Phe235Ser Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023162 p.Arg242Cys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023163 p.Arg242His Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023164 p.Phe255Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023165 p.Val281Met Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023166 p.Ile297Thr Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023167 p.Cys311Gly Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023168 p.Cys311Tyr Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023169 p.Tyr324His Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023170 p.Gly344Arg Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023171 p.Arg352Gln Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023172 p.Val353Ala Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023173 p.Arg362Cys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023174 p.Cys380Arg Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023175 p.Cys380Tyr Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023176 p.Ser397Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023177 p.Arg404Ser Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023178 p.His405Tyr Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023179 p.Tyr408His Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023180 p.Gly410Arg Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023181 p.His426Pro Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023182 p.Arg443Cys Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023183 p.Arg446Gln Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023184 p.Glu448Gln Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_023185 p.Arg450Leu Disease - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
DHCR7 Q9UBM7 VAR_052154 p.Gly425Ser Polymorphism rs760242 -
DHDDS Q86SQ9 VAR_028088 p.Val253Met Polymorphism rs3816539 -
DHDDS Q86SQ9 VAR_065356 p.Lys42Glu Disease - Retinitis pigmentosa type 59 (RP59) [MIM:613861]
DHDH Q9UQ10 VAR_038174 p.Ala2Pro Polymorphism rs10401800 -
DHDH Q9UQ10 VAR_038175 p.Ser66Asn Polymorphism rs2270941 -
DHDH Q9UQ10 VAR_038176 p.Val200Met Polymorphism rs35453148 -
DHDH Q9UQ10 VAR_038177 p.Val247Ala Polymorphism rs11666105 -
DHDH Q9UQ10 VAR_038178 p.Gly282Arg Polymorphism rs3765148 -
DHFR P00374 VAR_065818 p.Leu80Phe Disease - Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]
DHFR P00374 VAR_065819 p.Asp153Val Disease - Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]
DHFRL1 Q86XF0 VAR_061135 p.Val166Ile Polymorphism rs17855824 -
DHH O43323 VAR_054873 p.Leu162Pro Disease - Complete pure gonadal dysgenesis 46,XY type (GDXYM) [MIM:233420]
DHODH Q02127 VAR_022094 p.Lys7Gln Polymorphism rs3213422 -
DHODH Q02127 VAR_062412 p.Gly19Glu Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
DHODH Q02127 VAR_062413 p.Arg135Cys Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
DHODH Q02127 VAR_062414 p.Gly152Arg Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
DHODH Q02127 VAR_062415 p.Arg199Cys Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
DHODH Q02127 VAR_062416 p.Gly202Ala Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
DHODH Q02127 VAR_062417 p.Gly202Asp Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
DHODH Q02127 VAR_062418 p.Arg244Trp Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
DHODH Q02127 VAR_062419 p.Thr284Ile Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
DHODH Q02127 VAR_062420 p.Arg346Trp Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
DHODH Q02127 VAR_062421 p.Asp392Gly Disease - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
DHPS P49366 VAR_043005 p.Glu174Asp Polymorphism rs10425108 -
DHRS1 Q96LJ7 VAR_052318 p.Thr241Ile Polymorphism rs10134537 -
DHRS13 Q6UX07 VAR_037348 p.Arg191Gln Polymorphism rs2277666 -
DHRS13 Q6UX07 VAR_037349 p.Leu336Gln Polymorphism rs4795472 -
DHRS2 Q13268 VAR_035846 p.Ala250Val Unclassified - A colorectal cancer sample
DHRS4 Q9BTZ2 VAR_057272 p.Ala31Thr Polymorphism rs1043442 -
DHRS4 Q9BTZ2 VAR_061846 p.Pro202Ser Polymorphism rs1043650 -
DHRS4L2 Q6PKH6 VAR_037395 p.Leu17Met Polymorphism rs2273947 -
DHRS7 Q9Y394 VAR_052319 p.Arg218Gln Polymorphism rs34583017 -
DHRS7C A6NNS2 VAR_043150 p.Ser227Leu Polymorphism rs2280490 -
DHRS9 Q9BPW9 VAR_052320 p.Asp286His Polymorphism rs11695788 -
DHRSX Q8N5I4 VAR_016100 p.Glu297Lys Polymorphism rs12010 -
DHRSX Q8N5I4 VAR_055354 p.Val247Leu Polymorphism rs1127915 -
DHRSX Q8N5I4 VAR_055355 p.His292Arg Polymorphism rs3210910 -
DHTKD1 Q96HY7 VAR_036715 p.Phe20Leu Polymorphism rs1279138 -
DHTKD1 Q96HY7 VAR_036716 p.Tyr272Asp Polymorphism rs3740015 -
DHTKD1 Q96HY7 VAR_036717 p.Arg308Leu Polymorphism rs17849603 -
DHTKD1 Q96HY7 VAR_036718 p.Asn350Asp Polymorphism rs34716552 -
DHTKD1 Q96HY7 VAR_036719 p.Ile607Met Polymorphism rs2062988 -
DHX16 O60231 VAR_057236 p.Lys352Glu Polymorphism rs17189239 -
DHX16 O60231 VAR_057237 p.Leu502Phe Polymorphism rs17189232 -
DHX16 O60231 VAR_057238 p.Asp566Gly Polymorphism rs9262138 -
DHX29 Q7Z478 VAR_026985 p.Pro630His Polymorphism rs17854904 -
DHX29 Q7Z478 VAR_052180 p.Asp309Ala Polymorphism rs35874395 -
DHX32 Q7L7V1 VAR_035843 p.Pro209Arg Unclassified - A breast cancer sample
DHX32 Q7L7V1 VAR_052181 p.Glu271Asp Polymorphism rs11244674 -
DHX32 Q7L7V1 VAR_052182 p.Asp301Ala Polymorphism rs35772239 -
DHX32 Q7L7V1 VAR_052183 p.Val430Leu Polymorphism rs17153669 -
DHX33 Q9H6R0 VAR_057239 p.Arg118Cys Polymorphism rs8069315 -
DHX33 Q9H6R0 VAR_057240 p.His483Asp Polymorphism rs11653658 -
DHX34 Q14147 VAR_057241 p.Arg17Trp Polymorphism rs12984558 -
DHX34 Q14147 VAR_057242 p.Gly117Asp Polymorphism rs8113564 -
DHX35 Q9H5Z1 VAR_020211 p.Pro703Leu Polymorphism rs3752302 -
DHX35 Q9H5Z1 VAR_052184 p.Ile189Thr Polymorphism rs36053162 -
DHX36 Q9H2U1 VAR_027140 p.Glu151Lys Polymorphism rs1058299 -
DHX36 Q9H2U1 VAR_027141 p.Ser416Cys Polymorphism rs9438 -
DHX36 Q9H2U1 VAR_027142 p.Ile583Asn Polymorphism rs17853513 -
DHX37 Q8IY37 VAR_052185 p.Arg458Gln Polymorphism rs11057939 -
DHX37 Q8IY37 VAR_052186 p.Lys508Asn Polymorphism rs35165507 -
DHX37 Q8IY37 VAR_052187 p.Val717Ile Polymorphism rs35016004 -
DHX37 Q8IY37 VAR_052188 p.Ser869Gly Polymorphism rs4516060 -
DHX37 Q8IY37 VAR_052189 p.Arg1081Gln Polymorphism rs4447263 -
DHX37 Q8IY37 VAR_061826 p.Met96Ile Polymorphism rs11558556 -
DHX38 Q92620 VAR_015518 p.Thr1217Ala Polymorphism - -
DHX57 Q6P158 VAR_033861 p.Ser433Gly Polymorphism rs35371077 -
DHX57 Q6P158 VAR_052190 p.Ser410Phe Polymorphism rs11893062 -
DHX57 Q6P158 VAR_052191 p.Asn587Ser Polymorphism rs7598922 -
DHX58 Q96C10 VAR_019394 p.Gln425Arg Polymorphism rs2074158 -
DHX58 Q96C10 VAR_019395 p.Arg523Gln Polymorphism rs2074160 -
DHX58 Q96C10 VAR_049336 p.Thr76Ala Polymorphism rs34891485 -
DHX58 Q96C10 VAR_049337 p.Arg95Gln Polymorphism rs35118457 -
DHX8 Q14562 VAR_052174 p.Ala1069Gly Polymorphism rs34285079 -
DHX9 Q08211 VAR_052179 p.Ile894Val Polymorphism rs1049264 -
DIABLO Q9NR28 VAR_066487 p.Ser126Leu Disease - Deafness autosomal dominant type 64 (DFNA64) [MIM:614152]
DIAPH2 O60879 VAR_049095 p.Phe425Leu Polymorphism rs20361 -
DIAPH2 O60879 VAR_049096 p.Leu426Val Polymorphism rs20361 -
DIAPH3 Q9NSV4 VAR_049097 p.Asn363Ser Polymorphism rs36084898 -
DIAPH3 Q9NSV4 VAR_049098 p.Phe773Leu Polymorphism rs35579086 -
DIAPH3 Q9NSV4 VAR_049099 p.Glu1041Gly Polymorphism rs7491389 -
DICER1 Q9UPY3 VAR_063150 p.Leu1583Arg Disease - Pleuropulmonary blastoma (PPB) [MIM:601200]
DICER1 Q9UPY3 VAR_065301 p.Ser839Phe Disease - Goiter multinodular type 1 with or without Sertoli-Leydig cell tumors (MNG1) [MIM:138800]
DIDO1 Q9BTC0 VAR_028310 p.Pro13Leu Polymorphism rs6090161 -
DIDO1 Q9BTC0 VAR_028311 p.Pro276Leu Polymorphism rs6090160 -
DIDO1 Q9BTC0 VAR_057093 p.Met544Thr Polymorphism rs1883848 -
DIDO1 Q9BTC0 VAR_057094 p.Ala556Thr Polymorphism rs1883847 -
DIDO1 Q9BTC0 VAR_057095 p.Ala793Gly Polymorphism rs750077 -
DIDO1 Q9BTC0 VAR_057096 p.Pro1220Gln Polymorphism rs6011441 -
DIDO1 Q9BTC0 VAR_061740 p.Ser1708Cys Polymorphism rs41282984 -
DIEXF Q68CQ4 VAR_028827 p.Gln67Glu Polymorphism rs585627 -
DIO2 Q92813 VAR_047549 p.Thr92Ala Polymorphism rs225014 -
DIO2 Q92813 VAR_049640 p.Ala81Asp Polymorphism rs2839859 -
DIP2A Q14689 VAR_047372 p.Pro191Ala Polymorphism rs7283507 -
DIP2A Q14689 VAR_047373 p.Ser372Asn Polymorphism rs16979312 -
DIP2B Q9P265 VAR_038861 p.Ile792Val Polymorphism rs11169525 -
DIP2C Q9Y2E4 VAR_035905 p.Ala586Glu Unclassified - A breast cancer sample
DIP2C Q9Y2E4 VAR_035906 p.Gly622Ser Unclassified - A colorectal cancer sample
DIP2C Q9Y2E4 VAR_035907 p.Val1264Met Unclassified - A breast cancer sample
DIRC1 Q969H9 VAR_022549 p.Ser51Ala Polymorphism - -
DIRC1 Q969H9 VAR_061641 p.Leu92Ser Polymorphism rs58846152 -
DIS3 Q9Y2L1 VAR_023099 p.Asn269Ser Polymorphism rs4883918 -
DIS3 Q9Y2L1 VAR_023100 p.Thr326Arg Polymorphism rs7332388 -
DIS3L Q8TF46 VAR_038056 p.Ile518Val Polymorphism rs34668776 -
DIS3L Q8TF46 VAR_038057 p.Asp614Gly Polymorphism rs3803412 -
DIS3L Q8TF46 VAR_038058 p.Asn747Ser Polymorphism rs17258507 -
DIS3L2 Q8IYB7 VAR_038059 p.Pro12Ser Polymorphism rs723044 -
DISC1 Q9NRI5 VAR_022437 p.Arg264Gln Polymorphism rs3738401 -
DISC1 Q9NRI5 VAR_022438 p.Ser704Cys Polymorphism rs821616 -
DISC1 Q9NRI5 VAR_026704 p.Leu607Phe Polymorphism rs6675281 -
DISC1 Q9NRI5 VAR_030422 p.Gly5Val Polymorphism rs3738400 -
DISC1 Q9NRI5 VAR_050954 p.Leu330Phe Polymorphism rs34622148 -
DISC1 Q9NRI5 VAR_061642 p.Ala116Val Polymorphism rs56020408 -
DISC1 Q9NRI5 VAR_061643 p.Thr328Asn Polymorphism rs55795950 -
DISC1 Q9NRI5 VAR_061644 p.Gly531Arg Polymorphism rs56229136 -
DISP1 Q96F81 VAR_037077 p.Glu103Lys Polymorphism rs2609383 -
DISP2 A7MBM2 VAR_037078 p.Pro47Ala Polymorphism rs1898883 -
DISP2 A7MBM2 VAR_037079 p.Cys56Ser Polymorphism rs1898882 -
DISP2 A7MBM2 VAR_037080 p.Gly388Glu Polymorphism rs35043215 -
DISP2 A7MBM2 VAR_037081 p.Gly1145Ser Polymorphism rs2412512 -
DISP2 A7MBM2 VAR_037082 p.Arg1247Trp Polymorphism rs3743142 -
DIXDC1 Q155Q3 VAR_032294 p.Lys300Arg Polymorphism rs34575249 -
DKC1 O60832 VAR_006811 p.Phe36Val Disease rs121912293 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_006813 p.Pro40Arg Disease rs121912292 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_006814 p.Leu72Tyr Disease rs121912294 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_006815 p.Gly402Glu Disease rs121912295 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_009264 p.Ala353Val Disease rs121912288 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_009264 p.Ala353Val Disease rs121912288 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]
DKC1 O60832 VAR_010076 p.Ala2Val Disease rs121912303 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_010077 p.Lys39Glu Disease rs121912296 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_010078 p.Glu41Lys Disease rs121912302 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_010079 p.Arg65Thr Disease rs121912301 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_010080 p.Thr66Ala Disease rs121912297 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_010081 p.Leu321Val Disease rs2728726 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_010082 p.Met350Ile Disease rs121912298 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_010083 p.Met350Thr Disease rs121912300 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_010084 p.Gly402Arg Disease rs121912299 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_015674 p.Ile38Thr Disease rs28936072 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]
DKC1 O60832 VAR_015675 p.Thr49Met Disease rs121912304 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]
DKC1 O60832 VAR_015676 p.Ser121Gly Disease rs121912305 Hoyeraal-Hreidarsson syndrome (HHS) [MIM:300240]
DKC1 O60832 VAR_022553 p.Gly223Asp Polymorphism rs2728533 -
DKC1 O60832 VAR_063821 p.Leu56Ser Disease rs121912287 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_063822 p.Leu72Phe Disease rs121912306 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_063823 p.Leu317Phe Disease rs121912290 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_063824 p.Arg322Gln Disease rs121912291 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKC1 O60832 VAR_063825 p.Pro409Leu Disease rs121912289 Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
DKK2 Q9UBU2 VAR_021966 p.Arg146Gln Polymorphism rs17037102 -
DKK3 Q9UBP4 VAR_030787 p.Arg335Gly Polymorphism rs3206824 -
DKK3 Q9UBP4 VAR_057516 p.Glu49Asp Polymorphism rs11544816 -
DKKL1 Q9UK85 VAR_021967 p.Met109Arg Polymorphism rs2303759 -
DKKL1 Q9UK85 VAR_021968 p.Glu214Lys Polymorphism rs2288481 -
DKKL1 Q9UK85 VAR_024432 p.Ala29Thr Polymorphism rs919364 -
DKKL1 Q9UK85 VAR_053061 p.Leu24Arg Polymorphism rs2303757 -
DKKL1 Q9UK85 VAR_053062 p.Leu104Ile Polymorphism rs35693137 -
DKKL1 Q9UK85 VAR_053063 p.Gly187Ser Polymorphism rs1054770 -
DLAT P10515 VAR_047410 p.Ala43Val Polymorphism rs2303436 -
DLAT P10515 VAR_047411 p.Ser98Phe Polymorphism rs537057 -
DLAT P10515 VAR_047412 p.Leu99Phe Polymorphism rs537060 -
DLAT P10515 VAR_047413 p.Gln209Arg Polymorphism rs11553595 -
DLAT P10515 VAR_047414 p.Asp313Val Polymorphism rs11553592 -
DLAT P10515 VAR_047415 p.Val318Ala Polymorphism rs627441 -
DLAT P10515 VAR_047416 p.Asp451Asn Polymorphism rs10891314 -
DLC1 Q96QB1 VAR_014229 p.Asn712Ser Polymorphism rs1044092 -
DLC1 Q96QB1 VAR_014230 p.Val791Met Polymorphism rs532841 -
DLC1 Q96QB1 VAR_014231 p.Thr959Ala Polymorphism - -
DLC1 Q96QB1 VAR_014232 p.His998Gln Polymorphism - -
DLC1 Q96QB1 VAR_014233 p.Val1025Ala Polymorphism - -
DLC1 Q96QB1 VAR_014234 p.Glu1199Val Polymorphism rs1044093 -
DLC1 Q96QB1 VAR_014235 p.Ser1209Cys Polymorphism rs1044094 -
DLC1 Q96QB1 VAR_059293 p.Arg27Cys Polymorphism rs34575560 -
DLC1 Q96QB1 VAR_059294 p.Leu81Val Polymorphism rs3816748 -
DLC1 Q96QB1 VAR_059295 p.Gln254His Polymorphism rs11203495 -
DLC1 Q96QB1 VAR_059296 p.Asn255Asp Polymorphism rs11203494 -
DLC1 Q96QB1 VAR_059297 p.Thr260Ile Polymorphism rs3816747 -
DLC1 Q96QB1 VAR_059298 p.Gln320His Polymorphism rs34591797 -
DLD P09622 VAR_006907 p.Lys72Glu Unclassified - -
DLD P09622 VAR_006908 p.Pro488Leu Unclassified - -
DLD P09622 VAR_014555 p.Leu331Val Polymorphism rs17624 -
DLD P09622 VAR_015820 p.Gly229Cys Unclassified - -
DLD P09622 VAR_015821 p.Arg495Gly Unclassified - -
DLD P09622 VAR_031922 p.Lys104Thr Polymorphism rs1130477 -
DLEC1 Q9Y238 VAR_035908 p.Pro351Arg Unclassified - A breast cancer sample
DLEC1 Q9Y238 VAR_056860 p.Leu79Arg Polymorphism rs7625806 -
DLEC1 Q9Y238 VAR_056861 p.Ser192Phe Polymorphism rs34012183 -
DLEC1 Q9Y238 VAR_056862 p.Lys1022Asn Polymorphism rs36012922 -
DLEC1 Q9Y238 VAR_056863 p.Asn1150Asp Polymorphism rs9840172 -
DLEC1 Q9Y238 VAR_056864 p.Leu1227Pro Polymorphism rs9810085 -
DLEU7 Q6UYE1 VAR_031280 p.Ala83Val Polymorphism rs898861 -
DLG1 Q12959 VAR_054334 p.Lys140Arg Polymorphism rs1802668 -
DLG1 Q12959 VAR_054335 p.Arg278Gln Polymorphism rs1134986 -
DLG1 Q12959 VAR_054336 p.Pro899Leu Polymorphism rs34492126 -
DLG3 Q92796 VAR_036591 p.Gly40Arg Unclassified - A colorectal cancer sample
DLG5 Q8TDM6 VAR_027897 p.Gln140Arg Polymorphism rs1248696 -
DLG5 Q8TDM6 VAR_027898 p.Pro1481Gln Polymorphism rs2289310 -
DLG5 Q8TDM6 VAR_027899 p.Ala1600Val Polymorphism rs4979794 -
DLGAP1 O14490 VAR_053648 p.Arg816Gln Polymorphism rs35822832 -
DLGAP2 Q9P1A6 VAR_023073 p.Pro419Gln Polymorphism rs2301963 -
DLGAP2 Q9P1A6 VAR_036750 p.Thr620Met Polymorphism rs7463888 -
DLGAP4 Q9Y2H0 VAR_057716 p.Ala486Thr Polymorphism rs6019652 -
DLGAP4 Q9Y2H0 VAR_057717 p.Arg861Gln Polymorphism rs2275807 -
DLGAP5 Q15398 VAR_023774 p.Gly69Glu Polymorphism rs2274271 -
DLGAP5 Q15398 VAR_057718 p.Gln324His Polymorphism rs8010791 -
DLGAP5 Q15398 VAR_057719 p.Thr469Ile Polymorphism rs17128275 -
DLGAP5 Q15398 VAR_062147 p.Glu753Gln Polymorphism rs35954941 -
DLK1 P80370 VAR_055715 p.Gln73Leu Polymorphism rs34686110 -
DLK1 P80370 VAR_055716 p.Val104Met Polymorphism rs2273607 -
DLK1 P80370 VAR_055717 p.Ser260Asn Polymorphism rs1058009 -
DLK1 P80370 VAR_060335 p.Arg101Gly Polymorphism rs6575799 -
DLK1 P80370 VAR_060336 p.Asp108Gly Polymorphism rs1058006 -
DLK2 Q6UY11 VAR_048977 p.Gly301Arg Polymorphism rs35192247 -
DLL1 O00548 VAR_048976 p.Val444Met Polymorphism rs16901311 -
DLL3 Q9NYJ7 VAR_009952 p.Gly385Asp Disease - Spondylocostal dysostosis type 1 (SCDO1) [MIM:277300]
DLL3 Q9NYJ7 VAR_016776 p.Leu218Pro Polymorphism rs1110627 -
DLL3 Q9NYJ7 VAR_046782 p.Ala115Thr Polymorphism - -
DLL3 Q9NYJ7 VAR_046783 p.Leu142Gln Polymorphism rs55741253 -
DLL3 Q9NYJ7 VAR_046784 p.Phe172Cys Polymorphism rs8107127 -
DLST P36957 VAR_004976 p.Pro213Ala Polymorphism rs2853769 -
DLST P36957 VAR_004977 p.Pro384Thr Polymorphism - -
DLX1 P56177 VAR_028443 p.Ser136Cys Polymorphism rs17853565 -
DLX5 P56178 VAR_033874 p.Ser234Arg Polymorphism rs35273378 -
DMBT1 Q9UGM3 VAR_024788 p.Pro42Thr Polymorphism rs11523871 -
DMBT1 Q9UGM3 VAR_024789 p.Ser52Trp Polymorphism - -
DMBT1 Q9UGM3 VAR_024790 p.Ser54Leu Polymorphism rs3013236 -
DMBT1 Q9UGM3 VAR_024791 p.Val60Ala Polymorphism - -
DMBT1 Q9UGM3 VAR_024792 p.Pro65Leu Polymorphism - -
DMBT1 Q9UGM3 VAR_024793 p.Gln337Leu Polymorphism - -
DMBT1 Q9UGM3 VAR_024794 p.Pro357Ser Polymorphism - -
DMBT1 Q9UGM3 VAR_024795 p.Arg364Gly Polymorphism - -
DMBT1 Q9UGM3 VAR_024796 p.Gln420His Unclassified - A glioma sample
DMBT1 Q9UGM3 VAR_024797 p.Gly607Val Unclassified - A glioma sample
DMBT1 Q9UGM3 VAR_024798 p.Thr649Met Polymorphism - -
DMBT1 Q9UGM3 VAR_024799 p.Arg656Trp Polymorphism - -
DMBT1 Q9UGM3 VAR_024800 p.Thr780Met Polymorphism - -
DMBT1 Q9UGM3 VAR_024801 p.Pro856Ser Polymorphism rs2277240 -
DMBT1 Q9UGM3 VAR_024802 p.His1084Tyr Polymorphism rs2277244 -
DMBT1 Q9UGM3 VAR_024803 p.Met1169Thr Polymorphism rs3758437 -
DMBT1 Q9UGM3 VAR_024804 p.Arg1176Trp Polymorphism - -
DMBT1 Q9UGM3 VAR_024805 p.Val1545Met Polymorphism - -
DMBT1 Q9UGM3 VAR_024806 p.His1732Ser Unclassified - -
DMBT1 Q9UGM3 VAR_024807 p.Thr1961Pro Polymorphism - -
DMBT1 Q9UGM3 VAR_044417 p.Asn322Asp Polymorphism rs1969620 -
DMBT1 Q9UGM3 VAR_044418 p.Arg1860Leu Polymorphism rs7099177 -
DMBT1 Q9UGM3 VAR_052994 p.Arg670Cys Polymorphism rs2277237 -
DMBT1 Q9UGM3 VAR_052995 p.Thr719Met Polymorphism rs2277238 -
DMBT1 Q9UGM3 VAR_057981 p.Gly162Glu Unclassified - A glioma cell line
DMBT1 Q9UGM3 VAR_057982 p.Asn546Ser Unclassified - A glioma cell line
DMBT1 Q9UGM3 VAR_057983 p.Ser1095Pro Polymorphism - -
DMBT1 Q9UGM3 VAR_057984 p.Ser1102Thr Polymorphism - -
DMBT1 Q9UGM3 VAR_057985 p.Arg1434Trp Polymorphism - -
DMBT1 Q9UGM3 VAR_057986 p.Val2255Met Polymorphism - -
DMBX1 Q8NFW5 VAR_049578 p.Ala205Pro Polymorphism rs34614765 -
DMC1 Q14565 VAR_018960 p.Met200Val Polymorphism rs2227914 -
DMC1 Q14565 VAR_061757 p.Gly150Asp Polymorphism rs58396845 -
DMD P11532 VAR_005147 p.Leu54Arg Disease - Duchenne muscular dystrophy (DMD) [MIM:310200]
DMD P11532 VAR_005148 p.Gln133Pro Polymorphism rs1800256 -
DMD P11532 VAR_005149 p.Ala168Asp Disease - Becker muscular dystrophy (BMD) [MIM:300376]
DMD P11532 VAR_005150 p.Tyr231Asn Disease - Becker muscular dystrophy (BMD) [MIM:300376]
DMD P11532 VAR_005151 p.Gln365His Polymorphism rs1800266 -
DMD P11532 VAR_005153 p.Leu623Ile Polymorphism rs1800259 -
DMD P11532 VAR_005154 p.Lys773Glu Disease - Duchenne muscular dystrophy (DMD) [MIM:310200]
DMD P11532 VAR_005155 p.Ala784Gly Polymorphism rs1800260 -
DMD P11532 VAR_005156 p.Asp882Gly Polymorphism rs228406 -
DMD P11532 VAR_005157 p.Val1197Phe Polymorphism rs1800262 -
DMD P11532 VAR_005158 p.Thr1245Ile Polymorphism rs1800269 -
DMD P11532 VAR_005159 p.Ala1278Pro Polymorphism rs1800270 -
DMD P11532 VAR_005160 p.Lys1377Asn Polymorphism rs1800263 -
DMD P11532 VAR_005161 p.Gln1469Leu Polymorphism rs1057872 -
DMD P11532 VAR_005162 p.Arg1745His Polymorphism rs1801187 -
DMD P11532 VAR_005163 p.Arg1844Ser Polymorphism rs1801186 -
DMD P11532 VAR_005164 p.Arg2155Trp Polymorphism rs1800273 -
DMD P11532 VAR_005165 p.Arg2191Trp Polymorphism - -
DMD P11532 VAR_005167 p.Lys2366Gln Polymorphism rs1800275 -
DMD P11532 VAR_005168 p.Glu2910Val Polymorphism rs41305353 -
DMD P11532 VAR_005169 p.Asn2912Asp Polymorphism rs1800278 -
DMD P11532 VAR_005170 p.His2921Arg Disease rs1800279 Becker muscular dystrophy (BMD) [MIM:300376]
DMD P11532 VAR_005171 p.Gln2937Arg Polymorphism rs1800280 -
DMD P11532 VAR_005172 p.Ala3421Val Disease - Becker muscular dystrophy (BMD) [MIM:300376]
DMD P11532 VAR_023537 p.Lys18Asn Disease - Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]
DMD P11532 VAR_023538 p.Asp165Val Unclassified - -
DMD P11532 VAR_023539 p.Ala171Pro Disease - Becker muscular dystrophy (BMD) [MIM:300376]
DMD P11532 VAR_023540 p.Thr279Ala Disease - Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]
DMD P11532 VAR_023541 p.Asp645Gly Disease - Duchenne muscular dystrophy (DMD) [MIM:310200]
DMD P11532 VAR_023542 p.Asn1672Lys Disease rs16990264 Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]
DMD P11532 VAR_023543 p.Asn2299Thr Polymorphism - -
DMD P11532 VAR_023544 p.Phe3228Leu Disease - Cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:302045]
DMD P11532 VAR_023545 p.Cys3313Phe Unclassified - -
DMD P11532 VAR_023546 p.Asp3335His Disease - Duchenne muscular dystrophy (DMD) [MIM:310200]
DMD P11532 VAR_023547 p.Cys3340Tyr Disease - Duchenne muscular dystrophy (DMD) [MIM:310200]
DMD P11532 VAR_036353 p.Leu334Phe Unclassified - A colorectal cancer sample
DMD P11532 VAR_036354 p.Glu1219Gln Unclassified - A breast cancer sample
DMD P11532 VAR_036355 p.Arg1470His Unclassified - A breast cancer sample
DMD P11532 VAR_036356 p.Ala2164Val Unclassified - A colorectal cancer sample
DMD P11532 VAR_057642 p.Thr409Ser Polymorphism rs34155804 -
DMD P11532 VAR_057643 p.Ala573Val Polymorphism rs5972599 -
DMD P11532 VAR_057644 p.Thr715Ser Polymorphism rs16998350 -
DMD P11532 VAR_057645 p.Thr1136Ser Polymorphism rs3827462 -
DMD P11532 VAR_057646 p.Phe1388Val Polymorphism rs28715870 -
DMD P11532 VAR_057647 p.Arg2108Cys Polymorphism rs16990169 -
DMD P11532 VAR_062110 p.Ser666Leu Polymorphism rs34563188 -
DMD P11532 VAR_065764 p.Trp118Arg Unclassified - -
DMGDH Q9UI17 VAR_011505 p.His109Arg Disease - DMGDH deficiency (DMGDHD) [MIM:605850]
DMGDH Q9UI17 VAR_014950 p.Ser279Pro Polymorphism rs532964 -
DMGDH Q9UI17 VAR_014951 p.Ala530Gly Polymorphism rs1805073 -
DMGDH Q9UI17 VAR_014952 p.Ser646Pro Polymorphism rs1805074 -
DMKN Q6E0U4 VAR_042720 p.Ala13Asp Unclassified - A colorectal cancer sample
DMKN Q6E0U4 VAR_042721 p.Ala415Ser Polymorphism rs2293696 -
DMKN Q6E0U4 VAR_047337 p.Asp427Ala Polymorphism rs909072 -
DMKN Q6E0U4 VAR_056865 p.Glu69Asp Polymorphism rs12460932 -
DMKN Q6E0U4 VAR_056866 p.Asn139Ser Polymorphism rs7247001 -
DMKN Q6E0U4 VAR_059652 p.Val91Ala Polymorphism rs4806163 -
DMKN Q6E0U4 VAR_059653 p.Gly280Ser Polymorphism rs11667007 -
DMP1 Q13316 VAR_030750 p.Ser69Cys Polymorphism rs10019009 -
DMP1 Q13316 VAR_030751 p.Asp117Asn Unclassified - One individual with tumoral calcinosis
DMP1 Q13316 VAR_030752 p.Arg272His Polymorphism - -
DMP1 Q13316 VAR_033848 p.Lys463Arg Polymorphism rs34661425 -
DMPK Q09013 VAR_040452 p.Leu428Val Unclassified - A lung small cell carcinoma sample
DMPK Q09013 VAR_058334 p.Leu423Val Polymorphism rs527221 -
DMRT1 Q9Y5R6 VAR_009954 p.Ser45Thr Polymorphism rs3739583 -
DMRT1 Q9Y5R6 VAR_009955 p.Tyr221Ser Polymorphism - -
DMRT1 Q9Y5R6 VAR_009956 p.Arg281Ser Polymorphism - -
DMRT1 Q9Y5R6 VAR_009957 p.Pro295Leu Polymorphism - -
DMRT3 Q9NQL9 VAR_030591 p.Ala164Thr Polymorphism rs10978001 -
DMRT3 Q9NQL9 VAR_030592 p.Asn261Thr Polymorphism rs7854621 -
DMRT3 Q9NQL9 VAR_030593 p.Gly356Val Polymorphism rs16927037 -
DMRTA1 Q5VZB9 VAR_036331 p.Arg342Cys Unclassified - A colorectal cancer sample
DMTF1 Q9Y222 VAR_039577 p.Val479Ile Polymorphism rs1558049 -
DMXL1 Q9Y485 VAR_057589 p.Ile221Met Polymorphism rs7700801 -
DMXL1 Q9Y485 VAR_057590 p.Ser851Asn Polymorphism rs4895362 -
DMXL1 Q9Y485 VAR_057591 p.Val2067Met Polymorphism rs9790916 -
DMXL1 Q9Y485 VAR_057592 p.Thr2107Ser Polymorphism rs9791092 -
DMXL2 Q8TDJ6 VAR_057593 p.Thr497Met Polymorphism rs17524906 -
DMXL2 Q8TDJ6 VAR_057594 p.Asn903Asp Polymorphism rs16953073 -
DMXL2 Q8TDJ6 VAR_057595 p.Ser1288Pro Polymorphism rs12102203 -
DMXL2 Q8TDJ6 VAR_057596 p.Asp1481Gly Polymorphism rs35349640 -
DMXL2 Q8TDJ6 VAR_062094 p.Glu144Gln Polymorphism rs35097381 -
DNAAF1 Q8NEP3 VAR_047662 p.Asp387Glu Polymorphism rs36062234 -
DNAAF1 Q8NEP3 VAR_047663 p.Lys393Arg Polymorphism rs17856705 -
DNAAF1 Q8NEP3 VAR_047664 p.Glu432Asp Polymorphism rs9972733 -
DNAAF1 Q8NEP3 VAR_047665 p.Pro502Leu Polymorphism rs11644164 -
DNAAF1 Q8NEP3 VAR_047666 p.Phe545Cys Polymorphism rs17856706 -
DNAAF1 Q8NEP3 VAR_047667 p.Leu633Ser Polymorphism rs2288020 -
DNAAF1 Q8NEP3 VAR_047668 p.Leu659Pro Polymorphism rs2288022 -
DNAAF1 Q8NEP3 VAR_047669 p.Leu659Val Polymorphism rs2288021 -
DNAAF1 Q8NEP3 VAR_047670 p.Ser675Thr Polymorphism rs2288023 -
DNAAF1 Q8NEP3 VAR_047671 p.Gly703Arg Polymorphism rs4150188 -
DNAAF1 Q8NEP3 VAR_047672 p.Pro712Ala Polymorphism rs4150187 -
DNAAF1 Q8NEP3 VAR_063098 p.Leu175Arg Disease - Primary ciliary dyskinesia type 13 (CILD13) [MIM:613193]
DNAAF2 Q9NVR5 VAR_024309 p.Asp768Gly Polymorphism rs9989177 -
DNAAF2 Q9NVR5 VAR_057788 p.Glu62Asp Polymorphism rs2985684 -
DNAH1 Q9P2D7 VAR_038912 p.Glu205Asp Polymorphism rs10460963 -
DNAH1 Q9P2D7 VAR_038913 p.Val441Leu Polymorphism rs13060192 -
DNAH1 Q9P2D7 VAR_038914 p.Val1502Met Polymorphism rs17052095 -
DNAH1 Q9P2D7 VAR_038915 p.Arg1663Cys Polymorphism rs17052097 -
DNAH1 Q9P2D7 VAR_062176 p.Asn2384Ser Polymorphism rs56002041 -
DNAH1 Q9P2D7 VAR_064924 p.His3897Arg Polymorphism rs365048 -
DNAH10 Q8IVF4 VAR_038916 p.Ile480Val Polymorphism rs10846559 -
DNAH10 Q8IVF4 VAR_060135 p.Ser167Pro Polymorphism rs11057353 -
DNAH10 Q8IVF4 VAR_060136 p.Thr1724Met Polymorphism rs34934281 -
DNAH10 Q8IVF4 VAR_060137 p.Asp1767Glu Polymorphism rs7969937 -
DNAH10 Q8IVF4 VAR_060138 p.Arg1865Lys Polymorphism rs35685787 -
DNAH10 Q8IVF4 VAR_060139 p.Arg2403Trp Polymorphism rs7977449 -
DNAH10 Q8IVF4 VAR_060140 p.Asn2483Ser Polymorphism rs11835416 -
DNAH10 Q8IVF4 VAR_062177 p.Thr1986Met Polymorphism rs33935373 -
DNAH11 Q96DT5 VAR_013851 p.Glu34Leu Unclassified - -
DNAH11 Q96DT5 VAR_013852 p.Gln639Arg Polymorphism rs12670130 -
DNAH11 Q96DT5 VAR_013853 p.Ser654Cys Polymorphism - -
DNAH11 Q96DT5 VAR_013854 p.Val1023Ala Polymorphism rs10269582 -
DNAH11 Q96DT5 VAR_013855 p.Thr1038Ala Polymorphism rs10224537 -
DNAH11 Q96DT5 VAR_013856 p.Asp1640Gly Polymorphism rs17144835 -
DNAH11 Q96DT5 VAR_013857 p.Ser2641Asn Polymorphism rs9639393 -
DNAH11 Q96DT5 VAR_013858 p.Ile2682Val Polymorphism - -
DNAH11 Q96DT5 VAR_013859 p.Arg3004Gln Disease rs35865357 Primary ciliary dyskinesia type 7 (CILD7) [MIM:611884]
DNAH11 Q96DT5 VAR_013860 p.Ala3474Thr Polymorphism rs2214326 -
DNAH11 Q96DT5 VAR_013861 p.Leu3715Val Polymorphism rs4722064 -
DNAH11 Q96DT5 VAR_013862 p.Ser3765Pro Polymorphism rs17145720 -
DNAH11 Q96DT5 VAR_013863 p.Thr4177Ile Polymorphism rs12537531 -
DNAH11 Q96DT5 VAR_042944 p.Glu34Val Polymorphism rs2285944 -
DNAH11 Q96DT5 VAR_042945 p.Met1316Val Polymorphism rs17144788 -
DNAH11 Q96DT5 VAR_042946 p.Met4172Val Polymorphism rs6461613 -
DNAH11 Q96DT5 VAR_060141 p.Tyr2593His Polymorphism rs2003417 -
DNAH12 Q6ZR08 VAR_034829 p.Val32Ala Polymorphism rs9311651 -
DNAH12 Q6ZR08 VAR_034830 p.Ser139Asn Polymorphism rs6778837 -
DNAH12 Q6ZR08 VAR_034831 p.Asp224Glu Polymorphism rs6445902 -
DNAH12 Q6ZR08 VAR_034832 p.Thr231Ala Polymorphism rs7629743 -
DNAH12 Q6ZR08 VAR_037390 p.Tyr2740Phe Polymorphism rs17057989 -
DNAH12 Q6ZR08 VAR_037391 p.Gly2893Ser Polymorphism rs4060726 -
DNAH12 Q6ZR08 VAR_060142 p.Thr467Pro Polymorphism rs6806444 -
DNAH12 Q6ZR08 VAR_060143 p.Asp1549Asn Polymorphism rs6773904 -
DNAH12 Q6ZR08 VAR_060144 p.Tyr1704His Polymorphism rs4462937 -
DNAH12 Q6ZR08 VAR_060145 p.Arg1748Cys Polymorphism rs17050836 -
DNAH12 Q6ZR08 VAR_060146 p.Lys1754Asn Polymorphism rs17793014 -
DNAH12 Q6ZR08 VAR_060147 p.Thr1763Ile Polymorphism rs4681982 -
DNAH14 Q0VDD8 VAR_032116 p.Thr220Ser Polymorphism rs41267347 -
DNAH14 Q0VDD8 VAR_032117 p.Pro274Leu Polymorphism rs41267349 -
DNAH14 Q0VDD8 VAR_057764 p.Lys2671Glu Polymorphism rs6667999 -
DNAH17 Q9UFH2 VAR_039581 p.Asp492Asn Polymorphism rs34868091 -
DNAH17 Q9UFH2 VAR_062178 p.Ile792Val Polymorphism rs16971526 -
DNAH17 Q9UFH2 VAR_062179 p.Ile963Thr Polymorphism rs11651537 -
DNAH17 Q9UFH2 VAR_062180 p.Met1958Val Polymorphism rs691652 -
DNAH2 Q9P225 VAR_039407 p.Ala100Val Polymorphism rs35664870 -
DNAH2 Q9P225 VAR_039408 p.Ser312Thr Polymorphism rs3744254 -
DNAH2 Q9P225 VAR_039409 p.Glu1326Gly Polymorphism rs11868946 -
DNAH2 Q9P225 VAR_039410 p.Arg2548His Polymorphism rs11656500 -
DNAH2 Q9P225 VAR_039411 p.Thr3600Ile Polymorphism rs7213894 -
DNAH2 Q9P225 VAR_060134 p.Arg2904His Polymorphism rs2309808 -
DNAH3 Q8TD57 VAR_039412 p.Ile484Leu Unclassified - A colorectal cancer sample
DNAH3 Q8TD57 VAR_039413 p.Arg545Trp Polymorphism rs16970910 -
DNAH3 Q8TD57 VAR_039414 p.Ile1565Met Polymorphism rs330150 -
DNAH3 Q8TD57 VAR_039415 p.Val1583Ile Polymorphism rs16970832 -
DNAH3 Q8TD57 VAR_039416 p.Ser1608Phe Unclassified - A colorectal cancer sample
DNAH3 Q8TD57 VAR_039417 p.Thr1752Met Polymorphism rs13332291 -
DNAH3 Q8TD57 VAR_039418 p.Ile2399Asn Polymorphism rs34179606 -
DNAH3 Q8TD57 VAR_039419 p.Ile2804Val Polymorphism rs12929546 -
DNAH3 Q8TD57 VAR_039420 p.Lys2949Thr Polymorphism rs33928718 -
DNAH3 Q8TD57 VAR_039421 p.Glu3457Lys Polymorphism rs3743695 -
DNAH3 Q8TD57 VAR_039422 p.Leu3639Ile Polymorphism rs34771199 -
DNAH3 Q8TD57 VAR_039423 p.Arg3645Cys Polymorphism rs12924551 -
DNAH3 Q8TD57 VAR_039424 p.Arg3744Trp Polymorphism rs2301620 -
DNAH5 Q8TE73 VAR_019603 p.His12Gln Polymorphism rs339445 -
DNAH5 Q8TE73 VAR_019604 p.Gly24Glu Polymorphism rs1530496 -
DNAH5 Q8TE73 VAR_019605 p.Thr558Ala Polymorphism rs1530498 -
DNAH5 Q8TE73 VAR_019606 p.Gln2463Arg Polymorphism rs10078391 -
DNAH5 Q8TE73 VAR_019607 p.Leu2862Phe Polymorphism rs10513155 -
DNAH5 Q8TE73 VAR_019608 p.Gly3519Arg Disease - Kartagener syndrome (KTGS) [MIM:244400]
DNAH5 Q8TE73 VAR_019609 p.Ala4134Val Polymorphism rs30168 -
DNAH5 Q8TE73 VAR_019610 p.Thr4220Ala Polymorphism rs2277046 -
DNAH5 Q8TE73 VAR_019611 p.Ile4450Val Polymorphism rs3734110 -
DNAH5 Q8TE73 VAR_027903 p.Ile766Leu Polymorphism rs4701997 -
DNAH5 Q8TE73 VAR_027904 p.Ser1006Gly Polymorphism rs16902886 -
DNAH5 Q8TE73 VAR_027905 p.Met1081Val Polymorphism rs16902880 -
DNAH5 Q8TE73 VAR_027906 p.Thr3791Ile Polymorphism rs17263496 -
DNAH5 Q8TE73 VAR_030705 p.Arg1716Leu Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
DNAH5 Q8TE73 VAR_030706 p.Ser2264Asn Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
DNAH5 Q8TE73 VAR_030707 p.Glu2347Lys Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
DNAH5 Q8TE73 VAR_030708 p.Arg2501Pro Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
DNAH5 Q8TE73 VAR_030709 p.Phe2843Ser Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
DNAH5 Q8TE73 VAR_030710 p.Trp3409Ser Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
DNAH5 Q8TE73 VAR_030711 p.Ser3843Leu Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
DNAH5 Q8TE73 VAR_030712 p.Gly4205Val Disease - Primary ciliary dyskinesia type 3 (CILD3) [MIM:608644]
DNAH5 Q8TE73 VAR_053840 p.Leu591Arg Polymorphism rs35090077 -
DNAH5 Q8TE73 VAR_053841 p.Leu591Val Polymorphism rs35090077 -
DNAH5 Q8TE73 VAR_053842 p.Gln620Lys Polymorphism rs34076967 -
DNAH5 Q8TE73 VAR_053843 p.Lys765Asn Polymorphism rs4701997 -
DNAH5 Q8TE73 VAR_053844 p.Arg2425His Polymorphism rs35900306 -
DNAH7 Q8WXX0 VAR_038580 p.His169Pro Polymorphism rs1072599 -
DNAH7 Q8WXX0 VAR_038581 p.Ala280Thr Polymorphism rs2375643 -
DNAH7 Q8WXX0 VAR_038582 p.Ile315Val Polymorphism rs17838596 -
DNAH7 Q8WXX0 VAR_038583 p.Ser438Asn Polymorphism rs16843720 -
DNAH7 Q8WXX0 VAR_038584 p.Arg545Cys Polymorphism rs10931715 -
DNAH7 Q8WXX0 VAR_038585 p.Asp565His Polymorphism rs2635718 -
DNAH7 Q8WXX0 VAR_038586 p.Lys675Glu Polymorphism rs10198893 -
DNAH7 Q8WXX0 VAR_038587 p.Lys825Glu Polymorphism rs6719500 -
DNAH7 Q8WXX0 VAR_038588 p.Pro1422Thr Polymorphism rs168192 -
DNAH7 Q8WXX0 VAR_038589 p.Glu1525Lys Polymorphism rs13415574 -
DNAH7 Q8WXX0 VAR_038590 p.Arg1886Gln Polymorphism rs13034775 -
DNAH7 Q8WXX0 VAR_038591 p.Pro1940Leu Polymorphism rs2375544 -
DNAH7 Q8WXX0 VAR_038592 p.Pro1971Leu Polymorphism rs2889109 -
DNAH7 Q8WXX0 VAR_038593 p.Met2020Thr Polymorphism rs10184131 -
DNAH7 Q8WXX0 VAR_038594 p.Asn2459Lys Polymorphism rs16841199 -
DNAH7 Q8WXX0 VAR_038595 p.Thr2569Ile Polymorphism rs2293066 -
DNAH7 Q8WXX0 VAR_038596 p.Ile2809Val Polymorphism rs16841018 -
DNAH7 Q8WXX0 VAR_038597 p.Leu3319Pro Polymorphism rs13411834 -
DNAH7 Q8WXX0 VAR_038598 p.Arg3386His Polymorphism rs6708527 -
DNAH8 Q96JB1 VAR_030171 p.Asn71Ser Polymorphism rs6935293 -
DNAH8 Q96JB1 VAR_030172 p.Gly473Arg Polymorphism rs1738254 -
DNAH8 Q96JB1 VAR_030173 p.Ile573Val Polymorphism rs3823430 -
DNAH8 Q96JB1 VAR_030174 p.Ala727Thr Polymorphism rs1678674 -
DNAH8 Q96JB1 VAR_030175 p.Gly807Glu Polymorphism rs874808 -
DNAH8 Q96JB1 VAR_030176 p.Glu1202Lys Polymorphism rs9357283 -
DNAH8 Q96JB1 VAR_030177 p.Thr2444Asn Polymorphism rs862432 -
DNAH8 Q96JB1 VAR_030178 p.Thr4106Met Polymorphism rs1537232 -
DNAH8 Q96JB1 VAR_030179 p.Ile4271Val Polymorphism rs10484847 -
DNAH8 Q96JB1 VAR_036213 p.Thr2226Met Unclassified - A colorectal cancer sample
DNAH9 Q9NYC9 VAR_036214 p.Arg771Leu Unclassified - A breast cancer sample
DNAH9 Q9NYC9 VAR_036215 p.Asp2653His Unclassified - A breast cancer sample
DNAH9 Q9NYC9 VAR_036216 p.Thr3664Asn Unclassified - A breast cancer sample
DNAH9 Q9NYC9 VAR_046312 p.Arg151His Polymorphism rs17599639 -
DNAH9 Q9NYC9 VAR_046313 p.Gln445Arg Polymorphism rs9892256 -
DNAH9 Q9NYC9 VAR_046314 p.Arg842Trp Polymorphism rs16945138 -
DNAH9 Q9NYC9 VAR_046315 p.Arg1158Trp Polymorphism rs8070501 -
DNAH9 Q9NYC9 VAR_046316 p.Thr1221Ala Polymorphism rs9916482 -
DNAH9 Q9NYC9 VAR_046317 p.Met2087Val Polymorphism rs9892290 -
DNAH9 Q9NYC9 VAR_046318 p.Asn2195Ser Polymorphism rs3744581 -
DNAH9 Q9NYC9 VAR_046319 p.Gln2438His Polymorphism rs2277658 -
DNAH9 Q9NYC9 VAR_046320 p.Lys2961Arg Polymorphism rs11870983 -
DNAH9 Q9NYC9 VAR_046321 p.Lys2968Asn Polymorphism rs11871037 -
DNAH9 Q9NYC9 VAR_046322 p.Arg3726Gln Polymorphism rs16945431 -
DNAH9 Q9NYC9 VAR_046323 p.Arg3726Trp Polymorphism rs3760436 -
DNAH9 Q9NYC9 VAR_046324 p.Asp4036Asn Polymorphism rs17612861 -
DNAH9 Q9NYC9 VAR_046325 p.Met4374Ile Polymorphism rs1990236 -
DNAH9 Q9NYC9 VAR_046326 p.Arg4443Cys Polymorphism rs9913494 -
DNAH9 Q9NYC9 VAR_046327 p.Trp4462Arg Polymorphism rs8074656 -
DNAI1 Q9UI46 VAR_016774 p.Ala8Ser Polymorphism rs11547035 -
DNAI1 Q9UI46 VAR_016775 p.Gly515Ser Disease - Kartagener syndrome (KTGS) [MIM:244400]
DNAI1 Q9UI46 VAR_033876 p.Ala60Val Polymorphism rs16931549 -
DNAI1 Q9UI46 VAR_033877 p.Gln326His Polymorphism rs16931555 -
DNAI1 Q9UI46 VAR_033878 p.Val335Ile Polymorphism rs11793196 -
DNAI1 Q9UI46 VAR_033879 p.Val487Gly Polymorphism rs11999454 -
DNAI2 Q9GZS0 VAR_033880 p.Ala558Thr Polymorphism rs1979370 -
DNAI2 Q9GZS0 VAR_061140 p.Val495Ile Polymorphism rs28725418 -
DNAJA3 Q96EY1 VAR_027965 p.Asn75Tyr Polymorphism rs4785963 -
DNAJB11 Q9UBS4 VAR_016092 p.Ile264Val Polymorphism rs8147 -
DNAJB12 Q9NXW2 VAR_017864 p.Glu304Lys Polymorphism rs3750784 -
DNAJB2 P25686 VAR_048910 p.Gly270Arg Polymorphism rs34127289 -
DNAJB3 Q8WWF6 VAR_061142 p.Asp85Glu Polymorphism rs34622615 -
DNAJB3 Q8WWF6 VAR_061143 p.Asp98Glu Polymorphism rs34150486 -
DNAJB7 Q7Z6W7 VAR_017779 p.Glu41Ala Polymorphism rs2269619 -
DNAJB8 Q8NHS0 VAR_033881 p.Met153Leu Polymorphism rs35948511 -
DNAJB9 Q9UBS3 VAR_048911 p.Arg136His Polymorphism rs17155937 -
DNAJC10 Q8IXB1 VAR_031247 p.Asp76Asn Polymorphism rs6729801 -
DNAJC10 Q8IXB1 VAR_031248 p.Tyr414Cys Polymorphism rs11681366 -
DNAJC10 Q8IXB1 VAR_031249 p.His646Gln Polymorphism rs288334 -
DNAJC10 Q8IXB1 VAR_048912 p.Leu347Ile Polymorphism rs13414223 -
DNAJC11 Q9NVH1 VAR_027078 p.Val267Met Polymorphism rs12137794 -
DNAJC11 Q9NVH1 VAR_027079 p.Thr290Ala Polymorphism rs200454 -
DNAJC11 Q9NVH1 VAR_055703 p.Thr290Ser Polymorphism rs200454 -
DNAJC12 Q9UKB3 VAR_048913 p.Met124Ile Polymorphism rs35690028 -
DNAJC12 Q9UKB3 VAR_048914 p.Cys129Trp Polymorphism rs36099123 -
DNAJC13 O75165 VAR_047458 p.Ala1463Ser Polymorphism rs3762672 -
DNAJC13 O75165 VAR_047459 p.Phe1487Cys Polymorphism rs4405917 -
DNAJC13 O75165 VAR_047460 p.Val1995Ile Polymorphism rs10935014 -
DNAJC13 O75165 VAR_061144 p.Pro1515Ser Polymorphism rs55825559 -
DNAJC15 Q9Y5T4 VAR_027077 p.Arg35Gly Polymorphism rs11617079 -
DNAJC21 Q5F1R6 VAR_036163 p.Asp214Asn Unclassified - A breast cancer sample
DNAJC21 Q5F1R6 VAR_061145 p.Glu433Lys Polymorphism rs34908091 -
DNAJC24 Q6P3W2 VAR_036397 p.Asn22Asp Unclassified - A breast cancer sample
DNAJC30 Q96LL9 VAR_024433 p.Gly34Arg Polymorphism rs1128349 -
DNAJC30 Q96LL9 VAR_048915 p.Phe167Leu Polymorphism rs13244259 -
DNAJC5 Q9H3Z4 VAR_066555 p.Leu115Arg Disease - Neuronal ceroid lipofuscinosis type 4B (CLN4B) [MIM:162350]
DNAJC5G Q8N7S2 VAR_033882 p.Val4Gly Polymorphism rs17005979 -
DNAJC5G Q8N7S2 VAR_033883 p.His51Arg Polymorphism rs13414011 -
DNAJC6 O75061 VAR_026908 p.Ser671Asn Polymorphism rs4915691 -
DNAL1 Q4LDG9 VAR_065739 p.Asn150Ser Disease - Primary ciliary dyskinesia type 16 (CILD16) [MIM:614017]
DNALI1 O14645 VAR_014473 p.Ala65Val Polymorphism rs11749 -
DNALI1 O14645 VAR_035701 p.Ile120Met Unclassified - A colorectal cancer sample
DNASE1 P24855 VAR_002264 p.Gln31Glu Polymorphism - -
DNASE1 P24855 VAR_002265 p.Pro154Ala Polymorphism rs1799891 -
DNASE1 P24855 VAR_002266 p.Arg244Gln Polymorphism rs1053874 -
DNASE1 P24855 VAR_009300 p.Val114Met Polymorphism - -
DNASE1 P24855 VAR_009301 p.Arg207Cys Polymorphism - -
DNASE1 P24855 VAR_024434 p.Arg2Ser Polymorphism rs8176927 -
DNASE1 P24855 VAR_024435 p.Gly127Arg Polymorphism rs8176919 -
DNASE1 P24855 VAR_029172 p.Arg107Gly Polymorphism rs8176928 -
DNASE1 P24855 VAR_029173 p.Cys231Tyr Polymorphism rs8176940 -
DNASE1 P24855 VAR_029174 p.Ala246Pro Polymorphism rs8176939 -
DNASE1 P24855 VAR_029175 p.Gly262Asp Polymorphism rs8176924 -
DNASE1L1 P49184 VAR_048869 p.Val122Ile Polymorphism rs34952165 -
DNASE1L3 Q13609 VAR_036079 p.Leu19Val Unclassified - A breast cancer sample
DNASE1L3 Q13609 VAR_036080 p.Gly82Arg Unclassified - A breast cancer sample
DNASE1L3 Q13609 VAR_036081 p.Tyr117Ser Unclassified - A colorectal cancer sample
DNASE1L3 Q13609 VAR_059249 p.Asn96Lys Polymorphism rs12491947 -
DNASE1L3 Q13609 VAR_061137 p.Arg206Cys Polymorphism rs35677470 -
DNASE2 O00115 VAR_012044 p.Arg314Leu Polymorphism rs1061192 -
DNASE2 O00115 VAR_048870 p.Arg39Ile Polymorphism rs36075196 -
DNASE2 O00115 VAR_048871 p.His204Arg Polymorphism rs16978744 -
DNASE2B Q8WZ79 VAR_048872 p.Lys47Arg Polymorphism rs3754274 -
DNASE2B Q8WZ79 VAR_059250 p.Gln3His Polymorphism rs3738573 -
DNASE2B Q8WZ79 VAR_059251 p.Arg51Lys Polymorphism rs3754274 -
DNER Q8NFT8 VAR_028380 p.Pro433Leu Polymorphism rs17853365 -
DNHD1 Q96M86 VAR_033353 p.Arg1358Cys Polymorphism rs12574381 -
DNHD1 Q96M86 VAR_033354 p.Lys1896Asn Polymorphism rs16915277 -
DNHD1 Q96M86 VAR_033355 p.Phe2041Leu Polymorphism rs11825154 -
DNHD1 Q96M86 VAR_037388 p.Arg3830His Polymorphism rs10769699 -
DNHD1 Q96M86 VAR_037389 p.Ile4666Thr Polymorphism rs11604362 -
DNHD1 Q96M86 VAR_039308 p.Val240Glu Polymorphism rs2555158 -
DNHD1 Q96M86 VAR_039309 p.Asp317Asn Polymorphism rs2555152 -
DNHD1 Q96M86 VAR_039310 p.His418Tyr Polymorphism rs4758423 -
DNHD1 Q96M86 VAR_039311 p.Gln560Glu Polymorphism rs11603869 -
DNHD1 Q96M86 VAR_056829 p.Gln279Pro Polymorphism rs11605196 -
DNHD1 Q96M86 VAR_056830 p.Phe403Leu Polymorphism rs11040904 -
DNLZ Q5SXM8 VAR_053993 p.Pro169His Polymorphism rs3812553 -
DNLZ Q5SXM8 VAR_053994 p.Ser178Thr Polymorphism rs3812552 -
DNM1 Q05193 VAR_048904 p.Asp744Asn Polymorphism rs1042007 -
DNM1L O00429 VAR_022446 p.Ser71Thr Polymorphism rs1064610 -
DNM1L O00429 VAR_030489 p.Glu426Asp Polymorphism rs2389105 -
DNM1L O00429 VAR_063704 p.Ala395Asp Unclassified - -
DNM1P46 Q6ZS02 VAR_032224 p.Leu147Val Polymorphism rs4965539 -
DNM2 P50570 VAR_031961 p.Pro263Leu Polymorphism rs3745674 -
DNM2 P50570 VAR_031962 p.Glu368Lys Disease - Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]
DNM2 P50570 VAR_031963 p.Arg369Gln Disease - Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]
DNM2 P50570 VAR_031964 p.Arg369Trp Disease - Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]
DNM2 P50570 VAR_031965 p.Arg465Trp Disease - Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]
DNM2 P50570 VAR_031967 p.Lys562Glu Disease - Charcot-Marie-Tooth disease dominant intermediate type B (CMTDIB) [MIM:606482]
DNM2 P50570 VAR_039041 p.Ala618Thr Disease - Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]
DNM2 P50570 VAR_039042 p.Ser619Leu Disease - Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]
DNM2 P50570 VAR_039043 p.Ser619Trp Disease - Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]
DNM2 P50570 VAR_062574 p.Gly537Cys Unclassified - -
DNM2 P50570 VAR_062575 p.Leu570His Unclassified - -
DNM2 P50570 VAR_062576 p.Glu650Lys Disease - Centronuclear myopathy autosomal dominant (ADCNM) [MIM:160150]
DNMBP Q6XZF7 VAR_024339 p.Cys1413Trp Polymorphism rs11190305 -
DNMBP Q6XZF7 VAR_050955 p.Glu81Asp Polymorphism rs12267912 -
DNMBP Q6XZF7 VAR_050956 p.Asn373Lys Polymorphism rs35924554 -
DNMBP Q6XZF7 VAR_050957 p.Asn914Lys Polymorphism rs7919507 -
DNMT1 P26358 VAR_024605 p.His97Arg Polymorphism rs16999593 -
DNMT1 P26358 VAR_051960 p.Ile311Val Polymorphism rs2228612 -
DNMT1 P26358 VAR_065966 p.Tyr495Cys Disease - Hereditary sensory neuropathy type 1E (HSN1E) [MIM:614116]
DNMT3B Q9UBC3 VAR_011499 p.Ala603Thr Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
DNMT3B Q9UBC3 VAR_011500 p.Gly663Ser Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
DNMT3B Q9UBC3 VAR_011501 p.Val726Gly Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
DNMT3B Q9UBC3 VAR_011503 p.Asp817Gly Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
DNMT3B Q9UBC3 VAR_011504 p.Val818Met Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
DNMT3B Q9UBC3 VAR_011506 p.Ala585Val Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
DNMT3B Q9UBC3 VAR_011507 p.Val606Ala Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
DNMT3B Q9UBC3 VAR_011508 p.Val699Gly Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
DNMT3B Q9UBC3 VAR_011509 p.Ala766Pro Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
DNMT3B Q9UBC3 VAR_011510 p.His814Arg Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
DNMT3B Q9UBC3 VAR_022579 p.Ser270Pro Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
DNMT3B Q9UBC3 VAR_022580 p.Leu664Pro Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
DNMT3B Q9UBC3 VAR_022581 p.Arg840Gln Disease - Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]
DNMT3B Q9UBC3 VAR_033885 p.Arg54Pro Polymorphism rs17123590 -
DNMT3L Q9UJW3 VAR_051962 p.Arg278Gly Polymorphism rs7354779 -
DNTT P04053 VAR_058200 p.Arg112Gly Polymorphism rs6584066 -
DNTTIP1 Q9H147 VAR_014956 p.Ala183Thr Polymorphism rs408911 -
DNTTIP2 Q5QJE6 VAR_038748 p.Glu309Asp Polymorphism rs3747965 -
DNTTIP2 Q5QJE6 VAR_038749 p.Thr341Ala Polymorphism rs3179879 -
DNTTIP2 Q5QJE6 VAR_038750 p.Ala430Val Polymorphism rs35650636 -
DNTTIP2 Q5QJE6 VAR_038751 p.Tyr676Phe Polymorphism rs12748154 -
DNTTIP2 Q5QJE6 VAR_061710 p.Gly477Glu Polymorphism rs41292661 -
DOC2A Q14183 VAR_019656 p.Gly48Ser Polymorphism rs1140239 -
DOC2B Q14184 VAR_065743 p.Arg209Leu Unclassified - -
DOCK1 Q14185 VAR_059971 p.Ala1793Thr Polymorphism rs869801 -
DOCK11 Q5JSL3 VAR_034854 p.Ile813Phe Polymorphism rs16995229 -
DOCK2 Q92608 VAR_015822 p.Ser1746Thr Polymorphism rs2270898 -
DOCK2 Q92608 VAR_022137 p.Thr1779Ser Polymorphism rs2270898 -
DOCK2 Q92608 VAR_053064 p.Asp1558Ala Polymorphism rs13179480 -
DOCK4 Q8N1I0 VAR_015823 p.Thr87Ile Unclassified - A CNS cancer cell line
DOCK4 Q8N1I0 VAR_015824 p.Glu606Gln Polymorphism - -
DOCK4 Q8N1I0 VAR_015825 p.Lys1059Thr Unclassified - A CNS cancer cell line
DOCK4 Q8N1I0 VAR_015826 p.Pro1718Leu Unclassified - Ovarian cancer cell lines
DOCK4 Q8N1I0 VAR_015827 p.Pro1733Ala Polymorphism - -
DOCK4 Q8N1I0 VAR_015828 p.Ser1755Pro Unclassified - Colorectal cancer cell line
DOCK4 Q8N1I0 VAR_015829 p.Val1884Met Unclassified - A prostate cancer cell line
DOCK4 Q8N1I0 VAR_015830 p.Val1914Ile Polymorphism rs12705795 -
DOCK4 Q8N1I0 VAR_015831 p.Pro1917Leu Polymorphism - -
DOCK4 Q8N1I0 VAR_015832 p.Ser1926Leu Polymorphism rs34597439 -
DOCK4 Q8N1I0 VAR_057517 p.Asn535Asp Polymorphism rs12705801 -
DOCK4 Q8N1I0 VAR_057518 p.Arg853His Polymorphism rs2074130 -
DOCK4 Q8N1I0 VAR_057519 p.Arg1570Lys Polymorphism rs3757650 -
DOCK4 Q8N1I0 VAR_057520 p.Phe1580Leu Polymorphism rs3757651 -
DOCK4 Q8N1I0 VAR_057521 p.Gln1822Lys Polymorphism rs10281942 -
DOCK5 Q9H7D0 VAR_033886 p.Gln250Arg Polymorphism rs17053341 -
DOCK5 Q9H7D0 VAR_033887 p.Glu1836Lys Polymorphism rs35688737 -
DOCK5 Q9H7D0 VAR_053065 p.Gln1023Arg Polymorphism rs2271111 -
DOCK5 Q9H7D0 VAR_053066 p.Lys1285Arg Polymorphism rs2659585 -
DOCK6 Q96HP0 VAR_029830 p.Pro250Leu Polymorphism rs12978266 -
DOCK6 Q96HP0 VAR_029831 p.Pro555Leu Polymorphism rs12609039 -
DOCK6 Q96HP0 VAR_029832 p.Gly665Arg Polymorphism rs17001264 -
DOCK6 Q96HP0 VAR_029833 p.Val1420Leu Polymorphism rs8108071 -
DOCK6 Q96HP0 VAR_057522 p.Arg826Cys Polymorphism rs35881692 -
DOCK6 Q96HP0 VAR_057523 p.Ala1442Thr Polymorphism rs34243815 -
DOCK7 Q96N67 VAR_057524 p.Ile824Thr Polymorphism rs35400360 -
DOCK8 Q8NF50 VAR_033888 p.Pro97Thr Polymorphism rs529208 -
DOCK8 Q8NF50 VAR_033889 p.Glu237Lys Polymorphism rs11789099 -
DOCK8 Q8NF50 VAR_033890 p.Asn413Ser Polymorphism rs10970979 -
DOCK8 Q8NF50 VAR_033891 p.Ala597Val Polymorphism rs17673268 -
DOCK8 Q8NF50 VAR_033892 p.Arg1008Trp Polymorphism rs16937932 -
DOCK8 Q8NF50 VAR_033893 p.Ala1970Pro Polymorphism rs34908836 -
DOCK8 Q8NF50 VAR_059972 p.Glu169Lys Polymorphism rs11789099 -
DOCK8 Q8NF50 VAR_063753 p.Lys473Arg Disease - Hyperimmunoglobulin E recurrent infection syndrome autosomal recessive (AR-HIES) [MIM:243700]
DOCK9 Q9BZ29 VAR_053067 p.Lys1416Glu Polymorphism rs16955934 -
DOCK9 Q9BZ29 VAR_062000 p.Ala455Thr Polymorphism rs56010605 -
DOK2 O60496 VAR_030951 p.Ala152Pro Polymorphism rs1140295 -
DOK2 O60496 VAR_030952 p.Ser394Ala Polymorphism rs2242241 -
DOK2 O60496 VAR_053068 p.Pro274Leu Polymorphism rs34215892 -
DOK3 Q7L591 VAR_057525 p.Arg12Pro Polymorphism rs3749728 -
DOK3 Q7L591 VAR_062002 p.Gly22Arg Polymorphism rs41275297 -
DOK7 Q18PE1 VAR_027544 p.Gly180Ala Disease - Familial limb-girdle myasthenia autosomal recessive (LGM) [MIM:254300]
DOK7 Q18PE1 VAR_027545 p.Asp197Asn Polymorphism rs16844422 -
DOK7 Q18PE1 VAR_027546 p.Arg261His Polymorphism rs16844460 -
DOK7 Q18PE1 VAR_027547 p.Gln296Arg Polymorphism rs6811423 -
DOK7 Q18PE1 VAR_027548 p.Pro415Ser Polymorphism rs16844464 -
DOK7 Q18PE1 VAR_027549 p.Gly427Asp Polymorphism rs2020433 -
DOK7 Q18PE1 VAR_027550 p.Arg451Trp Polymorphism rs16844470 -
DOK7 Q18PE1 VAR_027551 p.Gly461Asp Polymorphism rs9684786 -
DOK7 Q18PE1 VAR_031246 p.Arg158Gln Polymorphism rs6811423 -
DOK7 Q18PE1 VAR_050508 p.Gly379Arg Polymorphism rs6831659 -
DOLK Q9UPQ8 VAR_032851 p.Cys99Ser Disease - Congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768]
DOLK Q9UPQ8 VAR_032852 p.Tyr441Ser Disease - Congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768]
DOLK Q9UPQ8 VAR_049709 p.Asp224Val Polymorphism rs17485436 -
DOM3Z O77932 VAR_027492 p.Ser28Thr Polymorphism rs1056694 -
DOM3Z O77932 VAR_027493 p.Asp63Glu Polymorphism rs2746396 -
DOM3Z O77932 VAR_027494 p.His261Gln Polymorphism rs17207867 -
DOM3Z O77932 VAR_027495 p.Ala332Val Polymorphism rs12205138 -
DOPEY1 Q5JWR5 VAR_034690 p.Arg596Gln Polymorphism rs4706980 -
DOPEY1 Q5JWR5 VAR_034691 p.Gln1781Leu Polymorphism rs9444039 -
DOPEY1 Q5JWR5 VAR_036607 p.Asp1155His Unclassified - A breast cancer sample
DOPEY2 Q9Y3R5 VAR_027939 p.Cys1118Gly Polymorphism rs4817788 -
DOPEY2 Q9Y3R5 VAR_027940 p.Pro1149His Polymorphism rs3746866 -
DOPEY2 Q9Y3R5 VAR_027941 p.Arg1217Ser Polymorphism rs3746867 -
DOPEY2 Q9Y3R5 VAR_027942 p.Gly2139Glu Polymorphism rs3827183 -
DOPEY2 Q9Y3R5 VAR_034688 p.Ser1021Trp Polymorphism rs7278340 -
DOT1L Q8TEK3 VAR_014287 p.Leu726Met Polymorphism rs880525 -
DOT1L Q8TEK3 VAR_014288 p.Gly1386Ser Polymorphism rs3815308 -
DOT1L Q8TEK3 VAR_014289 p.Val1418Leu Polymorphism rs2302061 -
DPAGT1 Q9H3H5 VAR_011391 p.Ile393Val Polymorphism rs643788 -
DPAGT1 Q9H3H5 VAR_017243 p.Tyr170Cys Disease rs28934876 Congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]
DPAGT1 Q9H3H5 VAR_036422 p.Met9Ile Unclassified - A breast cancer sample
DPCD Q9BVM2 VAR_039574 p.Ser56Arg Polymorphism - -
DPCD Q9BVM2 VAR_039575 p.Leu156Ser Polymorphism rs7006 -
DPCR1 Q3MIW9 VAR_038857 p.Gly337Arg Polymorphism rs11970154 -
DPCR1 Q3MIW9 VAR_038858 p.Glu419Lys Polymorphism rs3132580 -
DPCR1 Q3MIW9 VAR_038859 p.Arg517Gln Polymorphism rs2240804 -
DPEP1 P16444 VAR_036496 p.Arg246His Unclassified - A colorectal cancer sample
DPEP1 P16444 VAR_061375 p.Glu351Lys Polymorphism rs1126464 -
DPEP1 P16444 VAR_061376 p.Glu351Gln Polymorphism rs1126464 -
DPEP2 Q9H4A9 VAR_033894 p.His468Asp Polymorphism rs1133090 -
DPEP2 Q9H4A9 VAR_060230 p.Pro201Arg Polymorphism rs255051 -
DPF3 Q92784 VAR_047771 p.Arg177His Polymorphism rs17855717 -
DPH1 Q9BZG8 VAR_036702 p.Ala7Val Unclassified - Ovarian cancer
DPH1 Q9BZG8 VAR_036703 p.Ala34Asp Unclassified - Ovarian cancer
DPH1 Q9BZG8 VAR_036704 p.Leu335Val Unclassified rs35394823 Ovarian cancer
DPH1 Q9BZG8 VAR_036705 p.Ser389Arg Unclassified - Ovarian cancer
DPH1 Q9BZG8 VAR_055706 p.Lys226Arg Polymorphism rs1131600 -
DPH1 Q9BZG8 VAR_059255 p.Ile51Met Polymorphism rs8070453 -
DPM1 O60762 VAR_012341 p.Arg92Gly Disease - Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]
DPM1 O60762 VAR_019841 p.Ser248Pro Disease - Congenital disorder of glycosylation type 1E (CDG1E) [MIM:608799]
DPM2 O94777 VAR_033895 p.Thr76Ser Polymorphism rs7997 -
DPM3 Q9P2X0 VAR_062518 p.Leu85Ser Disease - Congenital disorder of glycosylation type 1O (CDG1O) [MIM:612937]
DPP10 Q8N608 VAR_057061 p.Ala340Pro Polymorphism rs2053724 -
DPP10 Q8N608 VAR_057062 p.Ser517Asn Polymorphism rs13421193 -
DPP10 Q8N608 VAR_059759 p.Val401Ile Polymorphism rs1446495 -
DPP3 Q9NY33 VAR_021850 p.Arg678His Polymorphism rs2305535 -
DPP3 Q9NY33 VAR_033494 p.Arg76His Polymorphism rs11826683 -
DPP3 Q9NY33 VAR_033495 p.Gln145His Polymorphism rs11550299 -
DPP3 Q9NY33 VAR_051597 p.Glu690Lys Polymorphism rs12421620 -
DPP6 P42658 VAR_051579 p.Leu854Pro Polymorphism rs3734960 -
DPP7 Q9UHL4 VAR_047087 p.Ala89Gly Polymorphism rs10747049 -
DPPA2 Q7Z7J5 VAR_028087 p.Arg131Gln Polymorphism rs9809030 -
DPPA3 Q6W0C5 VAR_030533 p.Glu51Gln Polymorphism rs2024320 -
DPPA4 Q7L190 VAR_060372 p.Ile55Val Polymorphism rs3762648 -
DPPA4 Q7L190 VAR_060373 p.Ser226Phe Polymorphism rs3905734 -
DPT Q07507 VAR_048888 p.Val201Ile Polymorphism rs6698023 -
DPY19L1 Q2PZI1 VAR_037332 p.Gly502Val Polymorphism rs1637696 -
DPY19L2 Q6NUT2 VAR_037333 p.Met37Val Polymorphism rs10878075 -
DPY19L2 Q6NUT2 VAR_037334 p.Ala41Val Polymorphism rs10878074 -
DPY19L2 Q6NUT2 VAR_037335 p.Ser51Ala Polymorphism rs10878073 -
DPY19L2 Q6NUT2 VAR_062214 p.Val757Ile Polymorphism rs12314553 -
DPY19L2P2 Q6ZN68 VAR_043009 p.Met66Val Polymorphism rs7796589 -
DPY19L2P2 Q6ZN68 VAR_043010 p.Asn333Ile Polymorphism rs17136078 -
DPY19L3 Q6ZPD9 VAR_037336 p.Met350Val Polymorphism rs8105178 -
DPYD Q12882 VAR_005173 p.Cys29Arg Polymorphism rs1801265 -
DPYD Q12882 VAR_005174 p.Arg235Trp Polymorphism rs1801266 -
DPYD Q12882 VAR_005175 p.Ser534Asn Polymorphism rs1801158 -
DPYD Q12882 VAR_005176 p.Ile543Val Polymorphism rs1801159 -
DPYD Q12882 VAR_005177 p.Arg886His Polymorphism rs1801267 -
DPYD Q12882 VAR_005178 p.Val995Phe Polymorphism rs1801268 -
DPYD Q12882 VAR_014760 p.Val732Ile Polymorphism rs1801160 -
DPYD Q12882 VAR_054034 p.Met166Val Polymorphism rs2297595 -
DPYS Q14117 VAR_002267 p.Thr68Arg Disease - Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
DPYS Q14117 VAR_002268 p.Gln334Arg Disease - Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
DPYS Q14117 VAR_002269 p.Trp360Arg Disease - Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
DPYS Q14117 VAR_002270 p.Gly435Arg Disease - Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
DPYS Q14117 VAR_002271 p.Arg490Thr Disease - Dihydropyrimidinase deficiency (DHPD) [MIM:222748]
DPYSL2 Q16555 VAR_022016 p.Ala118Thr Polymorphism rs2289593 -
DPYSL2 Q16555 VAR_036316 p.Arg481Cys Unclassified - A colorectal cancer sample
DPYSL3 Q14195 VAR_020485 p.Ala442Ser Polymorphism rs2304044 -
DR1 Q01658 VAR_034506 p.Glu171Asp Polymorphism rs3088371 -
DRD1 P21728 VAR_014670 p.Thr37Pro Polymorphism rs5327 -
DRD1 P21728 VAR_014671 p.Thr37Arg Polymorphism rs5328 -
DRD1 P21728 VAR_014672 p.Arg50Ser Polymorphism rs5330 -
DRD1 P21728 VAR_014673 p.Ser199Ala Polymorphism rs5331 -
DRD1 P21728 VAR_064577 p.Lys81Arg Polymorphism - -
DRD1 P21728 VAR_064578 p.Ser259Tyr Polymorphism rs74414188 -
DRD2 P14416 VAR_003462 p.Ser311Cys Polymorphism rs1801028 -
DRD2 P14416 VAR_014674 p.Pro310Ser Polymorphism rs1800496 -
DRD2 P14416 VAR_017143 p.Val154Ile Disease - Dystonia type 11 (DYT11) [MIM:159900]
DRD2 P14416 VAR_064579 p.Lys327Glu Polymorphism rs71653614 -
DRD3 P35462 VAR_003463 p.Ser9Gly Polymorphism rs6280 -
DRD4 P21917 VAR_003464 p.Val194Gly Polymorphism rs1800443 -
DRD4 P21917 VAR_003467 p.Pro329Ala Polymorphism - -
DRD4 P21917 VAR_003468 p.Gly332Ser Polymorphism - -
DRD4 P21917 VAR_055914 p.Ala281Pro Polymorphism rs3889692 -
DRD5 P21918 VAR_003458 p.Ala269Val Polymorphism rs2227842 -
DRD5 P21918 VAR_003459 p.Pro330Gln Polymorphism rs1800762 -
DRD5 P21918 VAR_003460 p.Asn351Asp Polymorphism - -
DRD5 P21918 VAR_003461 p.Ser453Cys Polymorphism - -
DRD5 P21918 VAR_011837 p.Leu88Arg Polymorphism rs6282 -
DRD5 P21918 VAR_024254 p.Val238Ile Polymorphism rs2227852 -
DRD5 P21918 VAR_029210 p.Cys62Ser Polymorphism rs2227840 -
DRD5 P21918 VAR_029211 p.Gly110Glu Polymorphism rs2227849 -
DRD5 P21918 VAR_029212 p.Phe207Val Polymorphism rs2227845 -
DRD5 P21918 VAR_029213 p.Ser233Asn Polymorphism rs2227843 -
DRD5 P21918 VAR_029214 p.Arg247His Polymorphism rs2227847 -
DRD5 P21918 VAR_029215 p.Ala286Val Polymorphism rs2227850 -
DRD5 P21918 VAR_061217 p.Thr297Pro Polymorphism rs2227851 -
DROSHA Q9NRR4 VAR_051866 p.Pro67Thr Polymorphism rs35342496 -
DROSHA Q9NRR4 VAR_061778 p.Ser321Leu Polymorphism rs55656741 -
DRP2 Q13474 VAR_033898 p.Val68Leu Polymorphism rs7066252 -
DSC1 Q08554 VAR_055579 p.Val460Ile Polymorphism rs17800159 -
DSC1 Q08554 VAR_055580 p.Cys848Phe Polymorphism rs985861 -
DSC1 Q08554 VAR_061059 p.Ser93Phe Polymorphism rs35338395 -
DSC2 Q02487 VAR_024388 p.Ile776Val Polymorphism rs1893963 -
DSC2 Q02487 VAR_029480 p.Asn11Ser Polymorphism rs868333 -
DSC2 Q02487 VAR_062391 p.Thr358Ile Polymorphism - -
DSC2 Q02487 VAR_062392 p.Arg798Gln Polymorphism - -
DSC2 Q02487 VAR_065687 p.Arg203Cys Disease - Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476]
DSC2 Q02487 VAR_065688 p.Ile231Thr Disease - Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476]
DSC2 Q02487 VAR_065689 p.Thr275Met Disease - Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476]
DSC2 Q02487 VAR_065690 p.Thr340Ala Disease - Familial arrhythmogenic right ventricular dysplasia type 11 (ARVD11) [MIM:610476]
DSC2 Q02487 VAR_065691 p.Ala596Val Polymorphism - -
DSC2 Q02487 VAR_065692 p.Gln638His Polymorphism - -
DSC3 Q14574 VAR_048515 p.Ala28Asp Polymorphism rs2852003 -
DSC3 Q14574 VAR_048516 p.Ser78Thr Polymorphism rs276937 -
DSC3 Q14574 VAR_048517 p.Arg102Lys Polymorphism rs276938 -
DSC3 Q14574 VAR_048518 p.Lys180Gln Polymorphism rs35296997 -
DSC3 Q14574 VAR_048519 p.Arg199Trp Polymorphism rs276921 -
DSC3 Q14574 VAR_048520 p.Asn239Ser Polymorphism rs35630063 -
DSCAM O60469 VAR_020080 p.Asp232Glu Polymorphism rs2297270 -
DSCAML1 Q8TD84 VAR_035512 p.Val659Ile Unclassified - A colorectal cancer sample
DSCAML1 Q8TD84 VAR_035513 p.Val1702Ile Unclassified - A colorectal cancer sample
DSCC1 Q9BVC3 VAR_038682 p.His376Arg Polymorphism rs1055130 -
DSCR9 P59020 VAR_024340 p.Arg76Leu Polymorphism rs13864 -
DSCR9 P59020 VAR_033849 p.Gly23Val Polymorphism rs1888464 -
DSE Q9UL01 VAR_034481 p.Thr25Ile Polymorphism rs10485183 -
DSE Q9UL01 VAR_053833 p.Pro34Leu Polymorphism rs35548455 -
DSE Q9UL01 VAR_053834 p.Ile282Val Polymorphism rs34994230 -
DSEL Q8IZU8 VAR_030833 p.Pro673Ser Polymorphism rs2279269 -
DSEL Q8IZU8 VAR_030834 p.Tyr730Cys Polymorphism rs12953840 -
DSEL Q8IZU8 VAR_036528 p.Lys1090Glu Unclassified - A colorectal cancer sample
DSEL Q8IZU8 VAR_057759 p.Thr832Ser Polymorphism rs35479856 -
DSG1 Q02413 VAR_020364 p.Tyr841Phe Polymorphism rs3752095 -
DSG1 Q02413 VAR_024385 p.Asn493Thr Polymorphism rs8091003 -
DSG1 Q02413 VAR_024386 p.Thr498Asn Polymorphism rs8091117 -
DSG1 Q02413 VAR_055573 p.Thr395Ser Polymorphism rs16961655 -
DSG1 Q02413 VAR_055574 p.Tyr528Ser Polymorphism rs16961689 -
DSG1 Q02413 VAR_055575 p.Asp538Asn Polymorphism rs34302455 -
DSG1 Q02413 VAR_055576 p.Met665Ile Polymorphism rs35360042 -
DSG1 Q02413 VAR_055577 p.Leu821Gln Polymorphism rs16961692 -
DSG1 Q02413 VAR_060248 p.Met11Val Polymorphism rs1426310 -
DSG1 Q02413 VAR_060249 p.Asp828Asn Polymorphism rs3752094 -
DSG2 Q14126 VAR_029365 p.Arg46Gln Disease - Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]
DSG2 Q14126 VAR_029366 p.Arg49His Disease - Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]
DSG2 Q14126 VAR_029367 p.Cys507Tyr Disease - Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]
DSG2 Q14126 VAR_029368 p.Gly812Cys Disease - Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]
DSG2 Q14126 VAR_048508 p.Tyr89Cys Polymorphism rs2230232 -
DSG2 Q14126 VAR_048509 p.Ile293Val Polymorphism rs2230234 -
DSG2 Q14126 VAR_048510 p.Val515Ile Polymorphism rs2230235 -
DSG2 Q14126 VAR_048511 p.Arg773Lys Polymorphism rs2278792 -
DSG2 Q14126 VAR_048512 p.Met863Leu Polymorphism rs16962093 -
DSG2 Q14126 VAR_048513 p.Thr903Ile Polymorphism rs34065672 -
DSG2 Q14126 VAR_062387 p.Val56Met Unclassified - -
DSG2 Q14126 VAR_062388 p.Val158Gly Polymorphism - -
DSG2 Q14126 VAR_062389 p.Glu713Lys Polymorphism - -
DSG2 Q14126 VAR_062390 p.Val920Gly Polymorphism - -
DSG2 Q14126 VAR_065686 p.Thr335Ala Disease - Familial arrhythmogenic right ventricular dysplasia type 10 (ARVD10) [MIM:610193]
DSG3 P32926 VAR_055578 p.Val509Met Polymorphism rs16961975 -
DSG3 P32926 VAR_059178 p.Thr912Ala Polymorphism rs1380866 -
DSG4 Q86SJ6 VAR_024387 p.Ile644Leu Polymorphism rs4799570 -
DSG4 Q86SJ6 VAR_033700 p.Ile535Thr Polymorphism rs7229252 -
DSG4 Q86SJ6 VAR_048514 p.Ala154Thr Polymorphism rs13381457 -
DSP P15924 VAR_015402 p.Ser299Arg Disease - Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450]
DSP P15924 VAR_015569 p.Asn287Lys Disease - Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]
DSP P15924 VAR_015570 p.Arg2366Cys Disease rs28931610 Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]
DSP P15924 VAR_018158 p.Gly2375Arg Unclassified - -
DSP P15924 VAR_020468 p.Tyr1512Cys Polymorphism rs2076299 -
DSP P15924 VAR_023814 p.Arg1255Lys Disease - Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450]
DSP P15924 VAR_023815 p.Arg1738Gln Polymorphism rs6929069 -
DSP P15924 VAR_023816 p.Arg1775Ile Disease rs34738426 Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450]
DSP P15924 VAR_033862 p.Ile305Phe Polymorphism rs17604693 -
DSP P15924 VAR_065693 p.Ile445Val Disease - Familial arrhythmogenic right ventricular dysplasia type 8 (ARVD8) [MIM:607450]
DSP P15924 VAR_065694 p.Ala1505Val Polymorphism - -
DSP P15924 VAR_065695 p.Asn1526Lys Polymorphism - -
DSP P15924 VAR_065696 p.Arg1537Cys Polymorphism - -
DSP P15924 VAR_065697 p.Glu1833Val Polymorphism - -
DSPP Q9NZW4 VAR_012280 p.Pro17Thr Disease rs28929492 Deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594]
DSPP Q9NZW4 VAR_012281 p.Val18Phe Disease - Deafness autosomal dominant type 39 with dentinogenesis imperfecta 1 (DFNA39/DGI1) [MIM:605594]
DSPP Q9NZW4 VAR_012281 p.Val18Phe Disease - Dentinogenesis imperfecta Shields type 3 (DGI3) [MIM:125500]
DSPP Q9NZW4 VAR_030661 p.Arg68Trp Polymorphism rs36094464 -
DSPP Q9NZW4 VAR_036861 p.Tyr6Asp Disease - Dentin dysplasia type 2 (DTDP2) [MIM:125420]
DSPP Q9NZW4 VAR_036862 p.Ala15Val Unclassified - -
DSPP Q9NZW4 VAR_047551 p.Asp243Asn Polymorphism rs3750025 -
DSPP Q9NZW4 VAR_054443 p.Pro17Ser Unclassified - -
DST Q03001 VAR_063045 p.Asn1319Lys Polymorphism rs35014998 -
DST Q03001 VAR_063046 p.Gln2332Arg Polymorphism rs16888053 -
DST Q03001 VAR_063047 p.Gln3720Arg Polymorphism rs4712138 -
DST Q03001 VAR_063048 p.Thr5138Ala Polymorphism rs4715631 -
DSTN P60981 VAR_036459 p.Gly139Glu Unclassified - A colorectal cancer sample
DSTYK Q6XUX3 VAR_057101 p.Leu432Val Polymorphism rs35845538 -
DTHD1 Q6ZMT9 VAR_046339 p.Gly26Arg Polymorphism rs16992035 -
DTHD1 Q6ZMT9 VAR_046340 p.Val179Asp Polymorphism rs1995319 -
DTHD1 Q6ZMT9 VAR_046341 p.Arg552Cys Polymorphism rs12507599 -
DTHD1 Q6ZMT9 VAR_046342 p.Arg662His Polymorphism rs9654132 -
DTL Q9NZJ0 VAR_030353 p.Ala436Val Polymorphism rs3135474 -
DTL Q9NZJ0 VAR_030354 p.Lys694Thr Polymorphism rs6540718 -
DTL Q9NZJ0 VAR_062095 p.Ser425Asn Polymorphism rs35137676 -
DTNA Q9Y4J8 VAR_026744 p.Pro121Leu Disease - Left ventricular non-compaction type 1 (LVNC1) [MIM:604169]
DTNA Q9Y4J8 VAR_055320 p.Ala180Glu Polymorphism rs1048081 -
DTNBP1 Q96EV8 VAR_029644 p.Pro272Ser Polymorphism rs17470454 -
DTNBP1 Q96EV8 VAR_053069 p.Gly214Asp Polymorphism rs16876589 -
DTWD1 Q8N5C7 VAR_036757 p.Leu9Pro Polymorphism rs11539522 -
DTWD1 Q8N5C7 VAR_036758 p.Glu13Lys Polymorphism rs11539519 -
DTWD1 Q8N5C7 VAR_036759 p.Ser25Pro Polymorphism rs11539521 -
DTX2 Q86UW9 VAR_016920 p.Ala94Thr Polymorphism rs2462312 -
DTX2 Q86UW9 VAR_016921 p.Gly384Glu Polymorphism rs1638152 -
DTX2 Q86UW9 VAR_016922 p.Thr421Ala Polymorphism rs6979487 -
DTX3L Q8TDB6 VAR_036098 p.Lys209Asn Unclassified - A breast cancer sample
DTX3L Q8TDB6 VAR_048895 p.Arg425Lys Polymorphism rs2332285 -
DTX3L Q8TDB6 VAR_048896 p.Lys668Met Polymorphism rs9868175 -
DUOX1 Q9NRD9 VAR_025321 p.Cys1026Arg Polymorphism rs16939752 -
DUOX1 Q9NRD9 VAR_025322 p.Leu1178Phe Polymorphism rs2458236 -
DUOX1 Q9NRD9 VAR_049104 p.Ile962Thr Polymorphism rs16939743 -
DUOX2 Q9NRD8 VAR_025323 p.Gln36His Disease - Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]
DUOX2 Q9NRD8 VAR_025324 p.Pro138Leu Polymorphism rs2001616 -
DUOX2 Q9NRD8 VAR_025325 p.Arg376Trp Disease - Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]
DUOX2 Q9NRD8 VAR_047075 p.Ser1067Leu Polymorphism rs269868 -
DUOX2 Q9NRD8 VAR_061177 p.His678Arg Polymorphism rs57659670 -
DUOX2 Q9NRD8 VAR_064619 p.Gly1518Ser Disease - Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]
DUOXA1 Q1HG43 VAR_029630 p.Ser313Gly Polymorphism rs16977686 -
DUOXA1 Q1HG43 VAR_057753 p.Pro19Leu Polymorphism rs34734975 -
DUOXA2 Q1HG44 VAR_047367 p.Arg100Gly Polymorphism rs2576090 -
DUPD1 Q68J44 VAR_033376 p.Ser137Arg Polymorphism rs16931938 -
DUPD1 Q68J44 VAR_051757 p.Asp66Asn Polymorphism rs11594934 -
DUS3L Q96G46 VAR_027092 p.Arg185Gly Polymorphism rs2436487 -
DUS3L Q96G46 VAR_027093 p.Asp609Asn Polymorphism rs12977803 -
DUS4L O95620 VAR_027094 p.Arg230Gln Polymorphism rs6957510 -
DUS4L O95620 VAR_048938 p.Thr178Ala Polymorphism rs6956789 -
DUSP1 P28562 VAR_025201 p.Ala56Thr Polymorphism rs34013988 -
DUSP1 P28562 VAR_025202 p.Tyr187His Polymorphism rs34471628 -
DUSP12 Q9UNI6 VAR_033899 p.Ala51Glu Polymorphism rs35106830 -
DUSP13 Q6B8I1 VAR_058495 p.Lys73Arg Polymorphism rs7912300 -
DUSP13 Q9UII6 VAR_025431 p.Cys156Tyr Polymorphism rs3088142 -
DUSP13 Q9UII6 VAR_057130 p.Arg62Gln Polymorphism rs16932004 -
DUSP13 Q9UII6 VAR_057131 p.Arg190Gly Polymorphism rs16931996 -
DUSP16 Q9BY84 VAR_051753 p.Thr23Met Polymorphism rs36049447 -
DUSP16 Q9BY84 VAR_051754 p.Val366Met Polymorphism rs3809199 -
DUSP19 Q8WTR2 VAR_051755 p.Ser216Arg Polymorphism rs16823987 -
DUSP21 Q9H596 VAR_019423 p.Met186Thr Polymorphism rs1045031 -
DUSP21 Q9H596 VAR_035644 p.Arg167Cys Unclassified - A colorectal cancer sample
DUSP22 Q9NRW4 VAR_026912 p.Arg119His Polymorphism rs7768224 -
DUSP23 Q9BVJ7 VAR_023199 p.Gly131Ser Polymorphism rs1129923 -
DUSP23 Q9BVJ7 VAR_051756 p.Glu124Val Polymorphism rs11544443 -
DUSP27 Q5VZP5 VAR_034964 p.Glu265Asp Polymorphism rs267745 -
DUSP27 Q5VZP5 VAR_034965 p.Arg466His Polymorphism rs6668826 -
DUSP27 Q5VZP5 VAR_034966 p.Ala505Thr Polymorphism rs3795605 -
DUSP27 Q5VZP5 VAR_034967 p.Lys855Gln Polymorphism rs267746 -
DUSP27 Q5VZP5 VAR_034968 p.Thr1124Asn Polymorphism rs2281959 -
DUSP5 Q16690 VAR_020298 p.Glu154Asp Polymorphism rs2282238 -
DUSP5 Q16690 VAR_047368 p.Pro322Leu Polymorphism rs35101549 -
DUSP5 Q16690 VAR_059777 p.Ala220Thr Polymorphism rs1889566 -
DUSP5 Q16690 VAR_059778 p.Ala220Val Polymorphism rs1889565 -
DUSP6 Q16828 VAR_015113 p.Val114Leu Polymorphism rs2279574 -
DUSP6 Q16828 VAR_051750 p.Ser144Ala Polymorphism rs770087 -
DUSP6 Q16828 VAR_051751 p.Asn313Ile Polymorphism rs12828557 -
DUSP7 Q16829 VAR_051752 p.Ser235Asn Polymorphism rs34821455 -
DUT P33316 VAR_022314 p.Pro100Ser Polymorphism rs28381104 -
DUX5 Q96PT3 VAR_059347 p.Ala60Val Polymorphism rs10865697 -
DUX5 Q96PT3 VAR_059348 p.Pro118Leu Polymorphism rs9755233 -
DUX5 Q96PT3 VAR_059349 p.Gln119Pro Polymorphism rs12374009 -
DUX5 Q96PT3 VAR_059350 p.Ser180Ala Polymorphism rs12632317 -
DUX5 Q96PT3 VAR_059351 p.Ser180Thr Polymorphism rs12632317 -
DVL2 O14641 VAR_064708 p.Ile282Thr Unclassified - -
DVL3 Q92997 VAR_025519 p.Trp433Leu Polymorphism rs17853048 -
DVL3 Q92997 VAR_036116 p.Arg216Thr Unclassified - A breast cancer sample
DYDC2 Q96IM9 VAR_048889 p.Gly143Ser Polymorphism rs1047951 -
DYM Q7RTS9 VAR_022740 p.Glu87Lys Disease - Smith-McCort dysplasia (SMC) [MIM:607326]
DYM Q7RTS9 VAR_054499 p.Asn469Tyr Disease - Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800]
DYM Q7RTS9 VAR_065293 p.Cys542Arg Disease - Smith-McCort dysplasia (SMC) [MIM:607326]
DYNC1H1 Q14204 VAR_020889 p.Asp3902Asn Polymorphism rs17512818 -
DYNC1H1 Q14204 VAR_020890 p.His4029Gln Polymorphism rs10129889 -
DYNC1H1 Q14204 VAR_065085 p.His3822Pro Unclassified - -
DYNC1H1 Q14204 VAR_066651 p.His306Arg Disease - Charcot-Marie-Tooth disease type 2O (CMT2O) [MIM:614228]
DYNC1I1 O14576 VAR_048905 p.Asn582Thr Polymorphism rs35077523 -
DYNC1I1 O14576 VAR_064709 p.His373Leu Unclassified - -
DYNC1LI1 Q9Y6G9 VAR_023325 p.Gln277Arg Polymorphism rs2303857 -
DYNC1LI1 Q9Y6G9 VAR_061141 p.Met147Thr Polymorphism rs34181332 -
DYNC2H1 Q8NCM8 VAR_038862 p.Thr302Pro Polymorphism rs12803695 -
DYNC2H1 Q8NCM8 VAR_038863 p.Gln304Leu Polymorphism rs12146610 -
DYNC2H1 Q8NCM8 VAR_038864 p.His341Tyr Polymorphism rs17301182 -
DYNC2H1 Q8NCM8 VAR_038865 p.Arg456Gln Polymorphism rs17099969 -
DYNC2H1 Q8NCM8 VAR_038866 p.Arg789Lys Polymorphism rs7358374 -
DYNC2H1 Q8NCM8 VAR_038867 p.Arg1221Lys Polymorphism rs12794914 -
DYNC2H1 Q8NCM8 VAR_038868 p.Thr1288Ala Polymorphism rs17301750 -
DYNC2H1 Q8NCM8 VAR_038869 p.Lys1413Arg Polymorphism rs688906 -
DYNC2H1 Q8NCM8 VAR_038870 p.Arg2871Gln Polymorphism rs589623 -
DYNC2H1 Q8NCM8 VAR_038871 p.Ala3680Val Polymorphism rs10895391 -
DYNC2H1 Q8NCM8 VAR_038872 p.Ser3976Asn Polymorphism rs4754914 -
DYNC2H1 Q8NCM8 VAR_038873 p.Gln4139Pro Polymorphism rs1793493 -
DYNC2H1 Q8NCM8 VAR_063242 p.Phe209Ile Disease - Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]
DYNC2H1 Q8NCM8 VAR_063243 p.Arg587Cys Disease - Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]
DYNC2H1 Q8NCM8 VAR_063244 p.Ile1240Thr Disease - Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]
DYNC2H1 Q8NCM8 VAR_063245 p.Gln1537Arg Disease - Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]
DYNC2H1 Q8NCM8 VAR_063246 p.Thr1987Ala Disease - Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]
DYNC2H1 Q8NCM8 VAR_063247 p.Met1991Leu Disease - Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]
DYNC2H1 Q8NCM8 VAR_063248 p.Arg2205His Disease - Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]
DYNC2H1 Q8NCM8 VAR_063249 p.Gly2461Val Disease - Short rib-polydactyly syndrome type 3 (SRPS3) [MIM:263510]
DYNC2H1 Q8NCM8 VAR_063250 p.Asp3015Gly Disease - Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]
DYNC2H1 Q8NCM8 VAR_063251 p.Leu3762Val Disease - Asphyxiating thoracic dystrophy type 3 (ATD3) [MIM:613091]
DYNC2LI1 Q8TCX1 VAR_038874 p.Phe33Ser Polymorphism rs2288709 -
DYNC2LI1 Q8TCX1 VAR_038875 p.Pro58Ser Polymorphism rs17854966 -
DYNC2LI1 Q8TCX1 VAR_038876 p.Ile230Leu Polymorphism rs11556157 -
DYNLRB1 Q9NP97 VAR_049124 p.Ser13Arg Polymorphism rs1063616 -
DYNLRB1 Q9NP97 VAR_049125 p.Ile71Phe Polymorphism rs10036 -
DYNLRB2 Q8TF09 VAR_049126 p.His14Arg Polymorphism rs13332289 -
DYRK1A Q13627 VAR_009395 p.Tyr415Phe Polymorphism - -
DYRK1A Q13627 VAR_009396 p.Gln681His Polymorphism - -
DYRK1A Q13627 VAR_040453 p.Ala679Pro Polymorphism rs55720916 -
DYRK1B Q9Y463 VAR_040454 p.Leu28Pro Polymorphism rs34587974 -
DYRK1B Q9Y463 VAR_040455 p.Arg102His Polymorphism rs55687541 -
DYRK1B Q9Y463 VAR_040456 p.Ser234Gly Polymorphism rs35858874 -
DYRK1B Q9Y463 VAR_040457 p.Gln275Arg Unclassified - A metastatic melanoma sample
DYRK2 Q92630 VAR_040458 p.Ser98Gly Polymorphism rs35139851 -
DYRK2 Q92630 VAR_040459 p.Pro198Leu Unclassified - A glioblastoma multiforme sample
DYRK2 Q92630 VAR_040460 p.His245Asn Polymorphism rs34166200 -
DYRK2 Q92630 VAR_040461 p.Asn295Ser Polymorphism rs56293072 -
DYRK2 Q92630 VAR_040462 p.Arg451Gln Polymorphism rs35688869 -
DYRK2 Q92630 VAR_040463 p.Phe455Tyr Polymorphism rs55774594 -
DYRK3 O43781 VAR_040464 p.Met239Leu Polymorphism - -
DYRK4 Q9NR20 VAR_010721 p.Val95Ile Polymorphism - -
DYRK4 Q9NR20 VAR_010722 p.Asn189Ser Polymorphism rs3741927 -
DYRK4 Q9NR20 VAR_014948 p.Asp454Val Polymorphism rs1801016 -
DYRK4 Q9NR20 VAR_033900 p.Ala61Thr Polymorphism rs12306130 -
DYRK4 Q9NR20 VAR_040465 p.Ala70Ser Polymorphism - -
DYSF O75923 VAR_012308 p.Pro791Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_012308 p.Pro791Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_012309 p.Ile1298Val Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_012309 p.Ile1298Val Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_012310 p.His1857Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_012311 p.Arg2042Cys Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_012311 p.Arg2042Cys Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_020308 p.Arg1242His Polymorphism rs2303603 -
DYSF O75923 VAR_024853 p.Ala170Glu Disease rs34999029 Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_024853 p.Ala170Glu Disease rs34999029 Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_024854 p.Leu189Val Polymorphism rs13407355 -
DYSF O75923 VAR_024855 p.Arg253Trp Unclassified - -
DYSF O75923 VAR_024856 p.Leu266Pro Unclassified - -
DYSF O75923 VAR_024857 p.Gly299Glu Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_024858 p.Cys456Trp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_024859 p.Arg555Trp Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_024859 p.Arg555Trp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_024860 p.Arg959Trp Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_024860 p.Arg959Trp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_024861 p.Arg1022Gln Disease rs34211915 Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_024862 p.Arg1038Gln Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_024863 p.Arg1046His Disease rs28939700 Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_024865 p.Ile1208Met Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_024866 p.Leu1276Val Polymorphism - -
DYSF O75923 VAR_024867 p.Arg1331Leu Polymorphism rs61742872 -
DYSF O75923 VAR_024868 p.Glu1335Lys Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_024868 p.Glu1335Lys Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_024869 p.Asn1351Ser Polymorphism - -
DYSF O75923 VAR_024870 p.Arg1693Gln Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_024871 p.Glu1748Val Unclassified - -
DYSF O75923 VAR_024872 p.Arg2000Gln Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_035893 p.Ile1325Met Unclassified - A breast cancer sample
DYSF O75923 VAR_035894 p.Leu1349Val Unclassified - A breast cancer sample
DYSF O75923 VAR_049055 p.Ile834Val Polymorphism rs34671418 -
DYSF O75923 VAR_049056 p.Ala1072Pro Polymorphism rs34660230 -
DYSF O75923 VAR_057834 p.Trp52Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057835 p.Val67Asp Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057835 p.Val67Asp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057836 p.Ala84Val Polymorphism - -
DYSF O75923 VAR_057837 p.Gly155Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057838 p.Gly234Glu Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057839 p.Ile284Thr Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057840 p.Gly299Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057841 p.Gly299Trp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057842 p.Gly335Ala Polymorphism - -
DYSF O75923 VAR_057843 p.Ser340Arg Unclassified - -
DYSF O75923 VAR_057844 p.Val374Leu Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057846 p.Glu389Gln Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057847 p.Asp390Asn Polymorphism - -
DYSF O75923 VAR_057848 p.Gly426Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057849 p.Gly426Val Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057850 p.Gly519Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057851 p.Gly618Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057851 p.Gly618Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057852 p.Gly621Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057853 p.Asp625Tyr Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057854 p.Pro731Arg Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057855 p.Arg819Gln Polymorphism - -
DYSF O75923 VAR_057856 p.Trp930Cys Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057857 p.Trp999Cys Disease rs28937581 Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057858 p.Pro1029Leu Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057859 p.Arg1041Cys Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057860 p.Leu1228Pro Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057861 p.Ile1325Val Polymorphism - -
DYSF O75923 VAR_057862 p.Leu1341Pro Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057863 p.Cys1361Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057864 p.Tyr1505Cys Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057865 p.Lys1526Thr Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057866 p.Gly1543Asp Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057867 p.Arg1581His Polymorphism - -
DYSF O75923 VAR_057868 p.Thr1662Arg Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057869 p.Cys1678Ser Unclassified - -
DYSF O75923 VAR_057870 p.Gly1679Glu Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057871 p.Arg1693Trp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057872 p.Glu1734Gly Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057873 p.Arg1768Trp Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057874 p.Asp1837Asn Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057875 p.Gly1842Asp Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057876 p.Leu1922Pro Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057878 p.Cys1942Gly Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_057879 p.Gly1967Ser Polymorphism - -
DYSF O75923 VAR_057880 p.Pro1970Ser Disease - Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
DYSF O75923 VAR_057881 p.Pro2068Leu Disease - Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]
DYSF O75923 VAR_061170 p.Arg1096His Polymorphism rs59915619 -
DYTN A2CJ06 VAR_050960 p.Tyr241Cys Polymorphism rs16838593 -
DYTN A2CJ06 VAR_050961 p.Gln474Lys Polymorphism rs2115591 -
DYX1C1 Q8WXU2 VAR_017383 p.Pro2Ser Polymorphism - -
DYX1C1 Q8WXU2 VAR_017384 p.Val91Ile Polymorphism rs17819126 -
DYX1C1 Q8WXU2 VAR_017385 p.Glu191Gly Polymorphism rs600753 -
DYX1C1 Q8WXU2 VAR_017386 p.Ser420Cys Polymorphism - -
DYX1C1 Q8WXU2 VAR_026214 p.Asn38Lys Polymorphism rs16976354 -
DYX1C1 Q8WXU2 VAR_026215 p.Ala332Val Polymorphism rs17855756 -
DZIP1 Q86YF9 VAR_019456 p.Pro736Ser Polymorphism rs11070136 -
DZIP1 Q86YF9 VAR_052710 p.Thr172Met Polymorphism rs9561921 -
DZIP1 Q86YF9 VAR_052711 p.Met664Leu Polymorphism rs34303958 -
DZIP1L Q8IYY4 VAR_042756 p.Arg321Trp Polymorphism rs2724693 -
DZIP1L Q8IYY4 VAR_042757 p.Thr545Ala Polymorphism rs446644 -
DZIP1L Q8IYY4 VAR_042758 p.Ala551Val Polymorphism rs11917468 -
DZIP1L Q8IYY4 VAR_042759 p.Arg593His Polymorphism rs374045 -
DZIP1L Q8IYY4 VAR_042760 p.Lys645Glu Polymorphism rs442800 -
E2F1 Q01094 VAR_013607 p.Arg252His Polymorphism rs3213172 -
E2F1 Q01094 VAR_013608 p.Val276Met Polymorphism rs3213173 -
E2F1 Q01094 VAR_013609 p.Thr311Asn Polymorphism rs3213174 -
E2F1 Q01094 VAR_013610 p.Gly393Ser Polymorphism rs3213176 -
E2F1 Q01094 VAR_048907 p.Gly200Ser Polymorphism rs35385772 -
E2F2 Q14209 VAR_018990 p.Gly205Arg Polymorphism rs2229297 -
E2F2 Q14209 VAR_018991 p.Gln226His Polymorphism rs2075995 -
E2F3 O00716 VAR_014341 p.Gly344Arg Polymorphism rs4134973 -
E2F3 O00716 VAR_014342 p.Asp389Asn Polymorphism rs4134982 -
E2F4 Q16254 VAR_014936 p.Thr293Pro Polymorphism rs1801013 -
E2F5 Q15329 VAR_014348 p.Gly18Ala Polymorphism rs4150841 -
E2F7 Q96AV8 VAR_034732 p.Phe72Leu Polymorphism rs310791 -
E2F7 Q96AV8 VAR_034733 p.Met626Val Polymorphism rs3829295 -
E2F7 Q96AV8 VAR_034734 p.His854Gln Polymorphism rs310831 -
E2F8 A0AVK6 VAR_034735 p.Ile674Val Polymorphism rs793274 -
E4F1 Q66K89 VAR_060270 p.Arg167His Polymorphism rs26839 -
E4F1 Q66K89 VAR_060271 p.Val355Ile Polymorphism rs59784157 -
EAPP Q56P03 VAR_031915 p.Gln168Glu Polymorphism rs17856038 -
EARS2 Q5JPH6 VAR_028840 p.Ser457Gly Polymorphism rs6497671 -
EBF2 Q9HAK2 VAR_048754 p.Gly559Ser Polymorphism rs17054477 -
EBI3 Q14213 VAR_024342 p.Val201Ile Polymorphism rs4740 -
EBI3 Q14213 VAR_049171 p.Ala174Val Polymorphism rs1803524 -
EBNA1BP2 Q99848 VAR_024437 p.Arg223His Polymorphism rs7163 -
EBP Q15125 VAR_012105 p.Glu80Lys Disease rs28936073 Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]
EBP Q15125 VAR_012106 p.Arg110Gln Disease - Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]
EBP Q15125 VAR_012107 p.Arg147Gly Disease - Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]
EBP Q15125 VAR_012108 p.Arg147His Disease rs28935174 Chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]
ECAT1 Q587J8 VAR_054052 p.Glu97Gln Polymorphism rs564533 -
ECAT1 Q587J8 VAR_054053 p.Ala201Gly Polymorphism rs561930 -
ECD O95905 VAR_012191 p.Arg281Gly Polymorphism - -
ECD O95905 VAR_051970 p.Arg45Gln Polymorphism rs3812619 -
ECD O95905 VAR_051971 p.Glu452Gln Polymorphism rs3736518 -
ECD O95905 VAR_051972 p.Asn501Ser Polymorphism rs36152134 -
ECD O95905 VAR_051973 p.Asp634Gly Polymorphism rs2271904 -
ECE1 P42892 VAR_011972 p.Thr341Ile Polymorphism rs1076669 -
ECE1 P42892 VAR_026747 p.Arg754Cys Disease rs3026906 Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD) [MIM:613870]
ECE1 P42892 VAR_054007 p.Trp630Arg Polymorphism rs2229451 -
ECE2 O60344 VAR_037085 p.Arg571Gln Polymorphism rs35875049 -
ECE2 O60344 VAR_047752 p.His101Tyr Polymorphism rs7633387 -
ECEL1 O95672 VAR_012813 p.His10Gln Polymorphism rs2741281 -
ECEL1 O95672 VAR_012814 p.His328Tyr Polymorphism rs1529874 -
ECH1 Q13011 VAR_014927 p.Glu41Ala Polymorphism rs9419 -
ECH1 Q13011 VAR_033913 p.Gly217Arg Polymorphism rs2229259 -
ECHDC2 Q86YB7 VAR_036951 p.Asn119Asp Polymorphism rs17854314 -
ECHDC3 Q96DC8 VAR_043126 p.Ala69Thr Polymorphism rs4750090 -
ECHDC3 Q96DC8 VAR_043127 p.Ala151Thr Polymorphism rs7910140 -
ECHDC3 Q96DC8 VAR_043128 p.Asp162Asn Polymorphism rs35986488 -
ECHS1 P30084 VAR_022273 p.Val11Ala Polymorphism rs10466126 -
ECHS1 P30084 VAR_022274 p.Thr75Ile Polymorphism rs1049951 -
ECI2 O75521 VAR_058493 p.Met47Ile Polymorphism rs3177253 -
ECI2 O75521 VAR_058494 p.Ala344Val Polymorphism rs7166 -
ECM1 Q16610 VAR_014761 p.Gly415Ser Polymorphism rs13294 -
ECM1 Q16610 VAR_014762 p.Gly528Arg Polymorphism rs1050901 -
ECM1 Q16610 VAR_014763 p.Ser535Phe Polymorphism rs1050904 -
ECM1 Q16610 VAR_018690 p.Thr130Met Polymorphism rs3737240 -
ECM1 Q16610 VAR_018691 p.Phe167Ile Disease - Lipoid proteinosis (LiP) [MIM:247100]
ECM2 O94769 VAR_024646 p.Gln56Pro Polymorphism rs10120210 -
ECM2 O94769 VAR_052010 p.Thr109Ser Polymorphism rs35496743 -
ECM2 O94769 VAR_052011 p.Arg204Gln Polymorphism rs34758505 -
ECM29 Q5VYK3 VAR_055702 p.Thr472Ser Polymorphism rs16916091 -
ECSIT Q9BQ95 VAR_032907 p.Arg278Cys Polymorphism rs34803265 -
ECSIT Q9BQ95 VAR_032908 p.Gly406Arg Polymorphism rs2302971 -
ECT2 Q9H8V3 VAR_035975 p.Thr833Pro Unclassified - A breast cancer sample
ECT2 Q9H8V3 VAR_047064 p.Ser15Thr Polymorphism rs34703432 -
ECT2L Q008S8 VAR_043482 p.Glu527Lys Polymorphism rs1529151 -
ECT2L Q008S8 VAR_043483 p.Ala594Thr Polymorphism rs11968285 -
ECT2L Q008S8 VAR_051984 p.Gln483His Polymorphism rs12198781 -
EDA Q92838 VAR_005179 p.Tyr61His Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_005180 p.Glu63Lys Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_005181 p.Arg69Leu Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_005182 p.Arg155Cys Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_005183 p.Arg156Cys Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_005184 p.Arg156His Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_005185 p.Pro209Leu Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_005186 p.Gly224Ala Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_005187 p.His252Leu Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_005188 p.Gly299Ser Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_005189 p.Ala349Thr Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_005190 p.Ala356Asp Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_005191 p.Arg357Pro Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_010611 p.His54Tyr Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_010612 p.Leu55Arg Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_010613 p.Gly291Arg Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_010614 p.Gly291Trp Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_010615 p.Asp298His Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_011077 p.Gly255Cys Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_011078 p.Gly255Asp Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_011079 p.Trp274Gly Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_011080 p.Cys332Tyr Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_013484 p.Cys60Arg Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_013485 p.His252Tyr Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_013486 p.Gly269Val Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_013487 p.Phe302Ser Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_013488 p.Thr378Met Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_029534 p.Arg65Gly Disease - Tooth agenesis selective X-linked type 1 (STHAGX1) [MIM:313500]
EDA Q92838 VAR_036590 p.Pro118Leu Unclassified - A colorectal cancer sample
EDA Q92838 VAR_054454 p.Arg153Cys Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054455 p.Arg156Ser Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054456 p.Lys158Asn Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054460 p.Gly189Glu Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054462 p.Gly198Ala Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054463 p.Gly207Arg Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054464 p.Gly218Asp Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054466 p.Asp298Tyr Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054467 p.Gln306His Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054468 p.Val307Gly Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054469 p.Tyr320Cys Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054470 p.Tyr343Cys Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054471 p.Gln358Glu Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054472 p.Ile360Asn Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054473 p.Asn372Asp Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054474 p.Met373Ile Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054475 p.Ser374Arg Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_054476 p.Thr378Pro Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_064858 p.Arg156Gly Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_064860 p.Gly207Val Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_064861 p.Thr211Arg Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_064862 p.Leu266Arg Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_064863 p.Trp274Arg Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_064864 p.Leu293Pro Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_064865 p.Leu296Val Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_064866 p.Gly299Asp Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_064867 p.Val323Gly Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_064868 p.Thr338Met Disease - Tooth agenesis selective X-linked type 1 (STHAGX1) [MIM:313500]
EDA Q92838 VAR_064869 p.Cys346Tyr Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_064870 p.Ala356Val Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA Q92838 VAR_064871 p.Gly381Arg Disease - Ectodermal dysplasia type 1 (ED1) [MIM:305100]
EDA2R Q9HAV5 VAR_044511 p.Arg57Lys Polymorphism rs1385699 -
EDA2R Q9HAV5 VAR_044512 p.Thr129Ala Polymorphism rs1385698 -
EDAR Q9UNE0 VAR_013448 p.Cys87Arg Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_013449 p.Arg89His Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_013450 p.Arg420Gln Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_013450 p.Arg420Gln Disease - Ectodermal dysplasia type 3 (ED3) [MIM:129490]
EDAR Q9UNE0 VAR_020011 p.Val370Ala Polymorphism rs3827760 -
EDAR Q9UNE0 VAR_054444 p.Cys47Tyr Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_054445 p.Asp110Ala Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_054446 p.Cys148Arg Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_054447 p.Arg375His Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_054448 p.Leu377Phe Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_054449 p.Gly382Ser Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_054450 p.Thr403Met Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_054451 p.Thr413Pro Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_054452 p.Ile418Thr Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_054453 p.Trp434Cys Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_064830 p.Arg98Gln Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_064831 p.Arg358Gln Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_064833 p.Ile408Phe Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDAR Q9UNE0 VAR_064834 p.Trp434Arg Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDARADD Q8WWZ3 VAR_013482 p.Glu152Lys Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDARADD Q8WWZ3 VAR_050963 p.Met9Ile Polymorphism rs966365 -
EDARADD Q8WWZ3 VAR_054509 p.Ser103Phe Polymorphism - -
EDARADD Q8WWZ3 VAR_054510 p.Leu122Arg Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDARADD Q8WWZ3 VAR_064835 p.Asp114Tyr Disease - Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
EDDM3A Q14507 VAR_050968 p.Gly62Cys Polymorphism rs34552133 -
EDDM3B P56851 VAR_038946 p.Leu5Val Polymorphism rs3827906 -
EDEM2 Q9BV94 VAR_012165 p.Ala456Thr Polymorphism rs3746429 -
EDEM2 Q9BV94 VAR_055842 p.Arg510Gln Polymorphism rs6060248 -
EDEM2 Q9BV94 VAR_055843 p.Leu556Phe Polymorphism rs1052056 -
EDEM3 Q9BZQ6 VAR_059306 p.Ile820Ser Polymorphism rs9425343 -
EDN1 P05305 VAR_014188 p.Lys198Asn Polymorphism rs5370 -
EDN1 P05305 VAR_048933 p.Val186Ile Polymorphism rs6413478 -
EDN2 P20800 VAR_018817 p.Pro168Leu Polymorphism rs11572371 -
EDN2 P20800 VAR_033914 p.Phe131Leu Polymorphism rs5798 -
EDN3 P14138 VAR_002353 p.Cys159Phe Disease - Waardenburg syndrome type 4 (WS4B) [MIM:613265]
EDN3 P14138 VAR_009078 p.Ala17Thr Disease rs11570255 Hirschsprung disease type 4 (HSCR4) [MIM:613712]
EDN3 P14138 VAR_009079 p.Ala224Thr Disease rs11570351 Hirschsprung disease type 4 (HSCR4) [MIM:613712]
EDN3 P14138 VAR_015238 p.Tyr127Cys Disease - Waardenburg syndrome type 4 (WS4B) [MIM:613265]
EDNRA P25101 VAR_035758 p.Ile136Leu Unclassified - A breast cancer sample
EDNRB P24530 VAR_003469 p.Gly57Ser Disease rs1801710 Hirschsprung disease type 2 (HSCR2) [MIM:600155]
EDNRB P24530 VAR_003470 p.Ala183Gly Disease - Waardenburg syndrome type 4A (WS4A) [MIM:277580]
EDNRB P24530 VAR_003471 p.Trp276Cys Disease - Hirschsprung disease type 2 (HSCR2) [MIM:600155]
EDNRB P24530 VAR_003472 p.Ser305Asn Disease rs5352 Hirschsprung disease type 2 (HSCR2) [MIM:600155]
EDNRB P24530 VAR_003473 p.Arg319Trp Disease - Hirschsprung disease type 2 (HSCR2) [MIM:600155]
EDNRB P24530 VAR_003474 p.Met374Ile Disease - Hirschsprung disease type 2 (HSCR2) [MIM:600155]
EDNRB P24530 VAR_003475 p.Pro383Leu Disease - Hirschsprung disease type 2 (HSCR2) [MIM:600155]
EDNRB P24530 VAR_014675 p.Leu7Gln Polymorphism rs5345 -
EDNRB P24530 VAR_014676 p.Leu17Phe Polymorphism rs5346 -
EDNRB P24530 VAR_014677 p.Phe112Val Polymorphism rs5347 -
EDNRB P24530 VAR_014678 p.Thr244Met Polymorphism rs5350 -
EDNRB P24530 VAR_015294 p.Phe292Leu Disease - Waardenburg syndrome type 4A (WS4A) [MIM:277580]
EDNRB P24530 VAR_019285 p.Pro5Thr Polymorphism rs12720160 -
EDNRB P24530 VAR_024255 p.Arg76Met Polymorphism rs2228271 -
EDRF1 Q3B7T1 VAR_035862 p.Asn45Ser Unclassified - A colorectal cancer sample
EDRF1 Q3B7T1 VAR_035863 p.Leu95Phe Unclassified - A colorectal cancer sample
EEA1 Q15075 VAR_052980 p.Lys810Gln Polymorphism rs10745623 -
EEF2K O00418 VAR_033915 p.His23Arg Polymorphism rs9935059 -
EEF2K O00418 VAR_033916 p.Pro75Ala Polymorphism rs17841292 -
EEF2K O00418 VAR_041534 p.Thr291Met Unclassified - A colorectal adenocarcinoma sample
EEF2K O00418 VAR_041535 p.Arg433Trp Polymorphism rs56137739 -
EEF2K O00418 VAR_041536 p.Asp609His Polymorphism - -
EEF2K O00418 VAR_058405 p.Gln361Arg Polymorphism rs4783453 -
EEFSEC P57772 VAR_055712 p.Ala435Val Polymorphism rs34326479 -
EEPD1 Q7L9B9 VAR_056867 p.Ala358Ser Polymorphism rs3815682 -
EEPD1 Q7L9B9 VAR_056868 p.Pro416Ser Polymorphism rs196594 -
EEPD1 Q7L9B9 VAR_060374 p.Ser343Asn Polymorphism rs196586 -
EFCAB11 Q9BUY7 VAR_032129 p.Ala15Val Polymorphism rs35435801 -
EFCAB11 Q9BUY7 VAR_032130 p.Asp31Gly Polymorphism rs34486581 -
EFCAB11 Q9BUY7 VAR_032131 p.Thr45Ala Polymorphism rs34911716 -
EFCAB3 Q8N7B9 VAR_028377 p.Gly341Arg Polymorphism rs12602985 -
EFCAB3 Q8N7B9 VAR_028378 p.Met364Ile Polymorphism rs1056642 -
EFCAB3 Q8N7B9 VAR_028379 p.Ser370Ala Polymorphism rs1056643 -
EFCAB4A Q8N4Y2 VAR_031479 p.Arg77Gln Polymorphism rs7126805 -
EFCAB4A Q8N4Y2 VAR_031480 p.Lys153Glu Polymorphism rs28558789 -
EFCAB4A Q8N4Y2 VAR_031481 p.Gly173Ser Polymorphism rs35567200 -
EFCAB4A Q8N4Y2 VAR_031482 p.Ser248Ile Polymorphism rs4075289 -
EFCAB4B Q9BSW2 VAR_031483 p.Arg7Gly Polymorphism rs9788233 -
EFCAB4B Q9BSW2 VAR_031484 p.Ala98Thr Polymorphism rs17836273 -
EFCAB4B Q9BSW2 VAR_031485 p.Ala128Val Polymorphism rs242017 -
EFCAB4B Q9BSW2 VAR_031486 p.His136Pro Polymorphism rs34088152 -
EFCAB4B Q9BSW2 VAR_031487 p.Glu154Lys Polymorphism rs242018 -
EFCAB4B Q9BSW2 VAR_031488 p.His212Gln Polymorphism rs36030417 -
EFCAB5 A4FU69 VAR_038343 p.Leu237Val Polymorphism rs9897794 -
EFCAB5 A4FU69 VAR_038344 p.Lys278Ile Polymorphism rs4795524 -
EFCAB5 A4FU69 VAR_038345 p.Arg561Ser Polymorphism rs9900546 -
EFCAB5 A4FU69 VAR_048644 p.Ala1145Asp Polymorphism rs9894896 -
EFCAB5 A4FU69 VAR_048645 p.Val1252Ala Polymorphism rs4499292 -
EFCAB5 A4FU69 VAR_048646 p.Arg1274Thr Polymorphism rs35724168 -
EFCAB5 A4FU69 VAR_048647 p.Asp1488Tyr Polymorphism rs5024269 -
EFCAB6 Q5THR3 VAR_048648 p.Val166Ala Polymorphism rs16990981 -
EFCAB6 Q5THR3 VAR_048649 p.Arg199Gly Polymorphism rs3747203 -
EFCAB6 Q5THR3 VAR_048650 p.Thr351Ala Polymorphism rs5764214 -
EFCAB6 Q5THR3 VAR_048651 p.Ser384Ala Polymorphism rs6006438 -
EFCAB6 Q5THR3 VAR_048652 p.His400Tyr Polymorphism rs137794 -
EFCAB6 Q5THR3 VAR_048653 p.Thr680Ala Polymorphism rs137731 -
EFCAB6 Q5THR3 VAR_048654 p.Asp780Asn Polymorphism rs12159591 -
EFCAB6 Q5THR3 VAR_048655 p.Arg800Trp Polymorphism rs6006514 -
EFCAB6 Q5THR3 VAR_048656 p.Ala1059Val Polymorphism rs9614382 -
EFCAB7 A8K855 VAR_038493 p.Phe27Ile Polymorphism rs17125106 -
EFCAB7 A8K855 VAR_038494 p.Ser186Gly Polymorphism rs9436246 -
EFCAB7 A8K855 VAR_038495 p.Thr248Ile Polymorphism rs6693255 -
EFCAB7 A8K855 VAR_038496 p.Met262Thr Polymorphism rs6657480 -
EFCAB7 A8K855 VAR_038497 p.Arg375Lys Polymorphism rs2273367 -
EFEMP1 Q12805 VAR_009512 p.Ile220Phe Polymorphism - -
EFEMP1 Q12805 VAR_009513 p.Arg345Trp Disease - Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600]
EFEMP2 O95967 VAR_027019 p.Glu57Lys Disease - Cutis laxa autosomal recessive type 1 (ARCL1) [MIM:219100]
EFEMP2 O95967 VAR_027020 p.Ile259Val Polymorphism rs601314 -
EFHA1 Q8IYU8 VAR_027662 p.Gln260Leu Polymorphism rs17853349 -
EFHB Q8N7U6 VAR_027750 p.Val331Ile Polymorphism rs2931403 -
EFHB Q8N7U6 VAR_027751 p.Thr382Ile Polymorphism rs2929366 -
EFHB Q8N7U6 VAR_027752 p.Gln663Pro Polymorphism rs9868950 -
EFHB Q8N7U6 VAR_055296 p.Gly99Val Polymorphism rs17795400 -
EFHB Q8N7U6 VAR_055297 p.Pro269Ser Polymorphism rs13078867 -
EFHB Q8N7U6 VAR_055298 p.Arg826Trp Polymorphism rs11917204 -
EFHC1 Q5JVL4 VAR_023619 p.Pro77Thr Disease - Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]
EFHC1 Q5JVL4 VAR_023620 p.Arg159Trp Polymorphism rs3804506 -
EFHC1 Q5JVL4 VAR_023621 p.Arg182His Polymorphism rs3804505 -
EFHC1 Q5JVL4 VAR_023622 p.Asp210Asn Disease - Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]
EFHC1 Q5JVL4 VAR_023623 p.Arg221His Disease - Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]
EFHC1 Q5JVL4 VAR_023624 p.Phe229Leu Disease - Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]
EFHC1 Q5JVL4 VAR_023625 p.Asp253Tyr Disease - Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]
EFHC1 Q5JVL4 VAR_023626 p.Ile619Leu Polymorphism rs17851770 -
EFHC1 Q5JVL4 VAR_026531 p.Arg285Ile Polymorphism rs17851771 -
EFHC1 Q5JVL4 VAR_043154 p.Ile174Val Unclassified - -
EFHC1 Q5JVL4 VAR_043155 p.Cys259Tyr Unclassified - -
EFHC1 Q5JVL4 VAR_043156 p.Arg294His Polymorphism rs1570624 -
EFHC1 Q5JVL4 VAR_043157 p.Arg353Trp Disease - Juvenile myoclonic epilepsy type 1 (EJM1) [MIM:254770]
EFHC1 Q5JVL4 VAR_043158 p.Ala394Ser Unclassified - -
EFHC1 Q5JVL4 VAR_043159 p.Met448Thr Polymorphism rs1266787 -
EFHC1 Q5JVL4 VAR_048666 p.Glu357Lys Polymorphism rs505760 -
EFHC2 Q5JST6 VAR_027698 p.Asn31Ser Polymorphism rs17146914 -
EFHC2 Q5JST6 VAR_027699 p.Glu208Lys Polymorphism rs7062352 -
EFHC2 Q5JST6 VAR_027700 p.Ser430Tyr Polymorphism rs2208592 -
EFHC2 Q5JST6 VAR_027701 p.Glu507Gln Polymorphism rs3747354 -
EFHC2 Q5JST6 VAR_061086 p.Cys57Tyr Polymorphism rs61636783 -
EFHD1 Q9BUP0 VAR_047966 p.Lys186Arg Polymorphism rs11550699 -
EFNA1 P20827 VAR_014791 p.Asp159Val Polymorphism rs4745 -
EFNA3 P52797 VAR_048937 p.Val190Met Polymorphism rs17723260 -
EFNA5 P52803 VAR_012035 p.Asn55Lys Polymorphism rs469062 -
EFNB1 P98172 VAR_023127 p.Pro27Arg Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023128 p.Pro54Leu Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023129 p.Ile62Thr Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023130 p.Leu98Ser Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023131 p.Thr111Ile Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023132 p.Gln115Pro Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023133 p.Pro119His Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023134 p.Pro119Ser Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023135 p.Pro119Thr Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023136 p.Thr137Ala Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023137 p.Ser138Phe Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023138 p.Gly151Ser Disease rs28936069 Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023139 p.Gly151Val Disease rs28936070 Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023140 p.Cys153Ser Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023141 p.Cys153Tyr Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023142 p.Arg154His Polymorphism - -
EFNB1 P98172 VAR_023143 p.Thr155Pro Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023144 p.Met158Ile Disease rs28935170 Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023145 p.Met158Val Disease rs28936071 Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023146 p.Ser182Arg Disease - Craniofrontonasal syndrome (CFNS) [MIM:304110]
EFNB1 P98172 VAR_023147 p.Val189Ala Polymorphism rs16989105 -
EFNB1 P98172 VAR_059256 p.Thr172Met Polymorphism rs7889678 -
EFNB3 Q15768 VAR_002356 p.Arg166Gln Polymorphism - -
EFR3A Q14156 VAR_047247 p.Gly358Arg Polymorphism rs2270877 -
EFR3A Q14156 VAR_047248 p.Asn365Asp Polymorphism rs1051221 -
EFS O43281 VAR_035912 p.Met361Ile Unclassified - A colorectal cancer sample
EFS O43281 VAR_054088 p.Thr7Ala Polymorphism rs2231798 -
EFS O43281 VAR_054089 p.Val100Met Polymorphism rs2231801 -
EFTUD1 Q7Z2Z2 VAR_037746 p.Glu478Asp Polymorphism rs2292189 -
EFTUD1 Q7Z2Z2 VAR_037747 p.Ile617Val Polymorphism rs1128431 -
EFTUD1 Q7Z2Z2 VAR_037748 p.Lys711Arg Polymorphism rs2292071 -
EFTUD2 Q15029 VAR_014931 p.Gly773Val Polymorphism rs1056505 -
EGF P01133 VAR_002275 p.Met708Ile Polymorphism rs2237051 -
EGF P01133 VAR_020161 p.Ser16Arg Polymorphism rs11568849 -
EGF P01133 VAR_020162 p.Arg431Lys Polymorphism rs11568943 -
EGF P01133 VAR_020163 p.Gly723Arg Polymorphism rs6413481 -
EGF P01133 VAR_020164 p.Asp784Val Polymorphism rs11569017 -
EGF P01133 VAR_020165 p.Met842Thr Polymorphism rs11569046 -
EGF P01133 VAR_020166 p.Leu1043Phe Polymorphism rs11569098 -
EGF P01133 VAR_020968 p.Asp257His Polymorphism rs11568911 -
EGF P01133 VAR_020969 p.Ser638Arg Polymorphism rs11568992 -
EGF P01133 VAR_020970 p.Glu920Val Polymorphism rs4698803 -
EGF P01133 VAR_020971 p.Asp981Glu Polymorphism rs11569086 -
EGF P01133 VAR_020972 p.Ala1084Gly Polymorphism rs11569111 -
EGF P01133 VAR_033825 p.His151Tyr Polymorphism rs9991664 -
EGF P01133 VAR_033826 p.Leu292His Polymorphism rs35191533 -
EGF P01133 VAR_039474 p.Pro1070Leu Disease - Hypomagnesemia type 4 (HOMG4) [MIM:611718]
EGFEM1P Q0D2K5 VAR_044016 p.Gly59Asp Polymorphism rs603638 -
EGFEM1P Q0D2K5 VAR_044017 p.Pro157Leu Polymorphism rs678690 -
EGFL6 Q8IUX8 VAR_033366 p.Glu66Lys Polymorphism rs16979010 -
EGFL6 Q8IUX8 VAR_033367 p.Arg164Cys Polymorphism rs34613284 -
EGFL6 Q8IUX8 VAR_033368 p.Leu508Phe Polymorphism rs34550481 -
EGFL6 Q8IUX8 VAR_033369 p.Asp535Asn Polymorphism rs16979033 -
EGFL7 Q9UHF1 VAR_019791 p.Val153Ile Polymorphism rs2297538 -
EGFL7 Q9UHF1 VAR_048981 p.Pro183Ser Polymorphism rs35863900 -
EGFL7 Q9UHF1 VAR_048982 p.Ala186Gly Polymorphism rs34142075 -
EGFL8 Q99944 VAR_019792 p.Arg86Lys Polymorphism rs3096697 -
EGFL8 Q99944 VAR_019793 p.Ala204Glu Polymorphism rs2071289 -
EGFL8 Q99944 VAR_048983 p.Gly277Cys Polymorphism rs35587174 -
EGFLAM Q63HQ2 VAR_035302 p.Arg111His Polymorphism rs2561111 -
EGFLAM Q63HQ2 VAR_035303 p.Trp229Arg Polymorphism rs1465567 -
EGFLAM Q63HQ2 VAR_035304 p.Thr473Met Polymorphism rs16903965 -
EGFLAM Q63HQ2 VAR_035305 p.His576Asn Polymorphism rs6897179 -
EGFLAM Q63HQ2 VAR_055718 p.Arg26Pro Polymorphism rs12522205 -
EGFLAM Q63HQ2 VAR_055719 p.Val745Met Polymorphism rs2561818 -
EGFR P00533 VAR_019293 p.Arg98Gln Polymorphism rs17289589 -
EGFR P00533 VAR_019294 p.Pro266Arg Polymorphism rs17336639 -
EGFR P00533 VAR_019295 p.Arg521Lys Polymorphism rs2227983 -
EGFR P00533 VAR_019296 p.Val674Ile Polymorphism rs17337079 -
EGFR P00533 VAR_019297 p.Gly719Ser Unclassified - -
EGFR P00533 VAR_019298 p.Leu858Arg Unclassified - -
EGFR P00533 VAR_019299 p.Arg962Gly Polymorphism rs17337451 -
EGFR P00533 VAR_019300 p.His988Pro Polymorphism rs17290699 -
EGFR P00533 VAR_026084 p.Glu709Ala Unclassified - -
EGFR P00533 VAR_026085 p.Glu709Lys Unclassified - -
EGFR P00533 VAR_026086 p.Gly719Ala Unclassified - -
EGFR P00533 VAR_026087 p.Gly719Cys Polymorphism rs28929495 -
EGFR P00533 VAR_026088 p.Gly719Asp Unclassified - -
EGFR P00533 VAR_026089 p.Gly724Ser Unclassified - -
EGFR P00533 VAR_026090 p.Glu734Lys Unclassified - -
EGFR P00533 VAR_026093 p.Leu747Phe Unclassified - -
EGFR P00533 VAR_026095 p.Arg748Pro Unclassified - -
EGFR P00533 VAR_026097 p.Gln787Arg Unclassified - -
EGFR P00533 VAR_026098 p.Thr790Met Unclassified - -
EGFR P00533 VAR_026099 p.Leu833Val Unclassified - -
EGFR P00533 VAR_026100 p.Val834Leu Unclassified - -
EGFR P00533 VAR_026101 p.Leu858Met Unclassified - -
EGFR P00533 VAR_026102 p.Leu861Gln Unclassified - -
EGFR P00533 VAR_026103 p.Gly873Glu Unclassified - -
EGFR P00533 VAR_042095 p.Leu1034Arg Polymorphism rs34352568 -
EGFR P00533 VAR_042096 p.Ala1210Val Polymorphism rs35918369 -
EGLN1 Q9GZT9 VAR_027371 p.Pro317Arg Disease - Familial erythrocytosis type 3 (ECYT3) [MIM:609820]
EGLN1 Q9GZT9 VAR_045902 p.Arg371His Disease - Familial erythrocytosis type 3 (ECYT3) [MIM:609820]
EGLN3 Q9H6Z9 VAR_050449 p.Val136Leu Polymorphism rs17102002 -
EGLN3 Q9H6Z9 VAR_050450 p.Ser234Thr Polymorphism rs17101995 -
EGR1 P18146 VAR_029330 p.Asn144Lys Polymorphism rs28365166 -
EGR1 P18146 VAR_029331 p.Ser145Arg Polymorphism rs28365164 -
EGR1 P18146 VAR_029332 p.Glu219Asp Polymorphism rs28365165 -
EGR1 P18146 VAR_052712 p.Thr28Ile Polymorphism rs13181973 -
EGR2 P11161 VAR_007735 p.Ile268Asn Disease - Congenital hypomyelination neuropathy (CHN) [MIM:605253]
EGR2 P11161 VAR_007736 p.Asp355Val Disease - Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]
EGR2 P11161 VAR_007738 p.Arg409Trp Disease - Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]
EGR2 P11161 VAR_009874 p.Arg359Trp Disease - Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]
EGR2 P11161 VAR_009874 p.Arg359Trp Disease - Dejerine-Sottas syndrome (DSS) [MIM:145900]
EGR2 P11161 VAR_009875 p.Arg381His Disease - Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]
EGR2 P11161 VAR_029958 p.Arg381Cys Disease - Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]
EGR2 P11161 VAR_029959 p.Asp383Tyr Disease - Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]
EHBP1 Q8NDI1 VAR_031992 p.Lys755Gln Polymorphism rs17432615 -
EHBP1 Q8NDI1 VAR_035913 p.Arg395Thr Unclassified - A breast cancer sample
EHBP1L1 Q8N3D4 VAR_031993 p.Arg307Gln Polymorphism rs3741380 -
EHBP1L1 Q8N3D4 VAR_031994 p.Val538Gly Polymorphism rs6591182 -
EHBP1L1 Q8N3D4 VAR_031995 p.Asp569Val Polymorphism rs1194099 -
EHBP1L1 Q8N3D4 VAR_031996 p.Thr599Ile Polymorphism rs7931052 -
EHBP1L1 Q8N3D4 VAR_031997 p.Thr648Ile Polymorphism rs7931269 -
EHBP1L1 Q8N3D4 VAR_061645 p.Val133Leu Polymorphism rs1194100 -
EHD2 Q9NZN4 VAR_033917 p.Gly57Ser Polymorphism rs34140460 -
EHD4 Q9H223 VAR_053070 p.Val154Ile Polymorphism rs11549015 -
EHF Q9NZC4 VAR_048941 p.Ala96Val Polymorphism rs9804460 -
EHHADH Q08426 VAR_047132 p.Thr75Ile Polymorphism rs1062553 -
EHHADH Q08426 VAR_047133 p.Ala274Thr Polymorphism rs2302819 -
EHHADH Q08426 VAR_047134 p.Thr606Pro Polymorphism rs1042438 -
EHHADH Q08426 VAR_047135 p.Gln685Lys Polymorphism rs11919970 -
EHHADH Q08426 VAR_047136 p.Leu715Ser Polymorphism rs11927618 -
EHHADH Q08426 VAR_054329 p.Val40Gly Polymorphism rs1062551 -
EHHADH Q08426 VAR_054330 p.Ile41Arg Polymorphism rs1062552 -
EHHADH Q08426 VAR_054331 p.Ala325Gly Polymorphism rs1062555 -
EHHADH Q08426 VAR_054332 p.Lys598Thr Polymorphism rs1042437 -
EHMT1 Q9H9B1 VAR_027642 p.Ala388Thr Polymorphism rs11137198 -
EHMT1 Q9H9B1 VAR_036345 p.Ala43Val Unclassified - A breast cancer sample
EHMT1 Q9H9B1 VAR_036346 p.Tyr1173Phe Unclassified - A breast cancer sample
EHMT2 Q96KQ7 VAR_027973 p.Thr55Asn Polymorphism rs7887 -
EHMT2 Q96KQ7 VAR_027974 p.Tyr1165Phe Polymorphism rs13919 -
EI24 O14681 VAR_065459 p.Asp30Gly Unclassified - Some patients with early onset breast cancer
EI24 O14681 VAR_065460 p.Pro195Trp Unclassified - Some patients with early onset breast cancer
EI24 O14681 VAR_065461 p.Ile196Asp Unclassified - Some patients with early onset breast cancer
EI24 O14681 VAR_065462 p.His197Tyr Unclassified - Some patients with early onset breast cancer
EI24 O14681 VAR_065463 p.Val199His Unclassified - Some patients with early onset breast cancer
EI24 O14681 VAR_065464 p.Thr319Ala Unclassified - Some patients with early onset breast cancer
EID2 Q8N6I1 VAR_038351 p.Ala6Thr Polymorphism rs7252027 -
EID2 Q8N6I1 VAR_050964 p.Glu60Ala Polymorphism rs3746086 -
EIF1 P41567 VAR_052505 p.Leu59Pro Polymorphism rs3390 -
EIF1 P41567 VAR_052506 p.Arg90Gly Polymorphism rs3387 -
EIF1AD Q8N9N8 VAR_037851 p.Asp23Asn Polymorphism rs17849919 -
EIF1AD Q8N9N8 VAR_037852 p.Ser159Asn Polymorphism rs2276017 -
EIF2A Q9BY44 VAR_032066 p.Thr97Ser Polymorphism rs1132979 -
EIF2A Q9BY44 VAR_032067 p.Glu582Lys Polymorphism rs17850813 -
EIF2AK1 Q9BQI3 VAR_015732 p.Lys558Arg Polymorphism rs2640 -
EIF2AK1 Q9BQI3 VAR_040466 p.Arg117Thr Polymorphism rs34889754 -
EIF2AK1 Q9BQI3 VAR_040467 p.Lys132Thr Polymorphism rs34851195 -
EIF2AK1 Q9BQI3 VAR_040468 p.Arg134Lys Polymorphism rs55744865 -
EIF2AK1 Q9BQI3 VAR_040469 p.Pro139Ser Polymorphism rs55963745 -
EIF2AK1 Q9BQI3 VAR_040470 p.Arg145His Polymorphism rs55971369 -
EIF2AK1 Q9BQI3 VAR_040471 p.Gly202Ser Unclassified - A lung adenocarcinoma sample
EIF2AK1 Q9BQI3 VAR_040472 p.Phe292Leu Polymorphism rs55982710 -
EIF2AK1 Q9BQI3 VAR_040473 p.Leu319His Polymorphism rs34909691 -
EIF2AK2 P19525 VAR_040474 p.Val428Glu Polymorphism rs56219559 -
EIF2AK2 P19525 VAR_040475 p.Leu439Val Unclassified - A lung adenocarcinoma sample
EIF2AK2 P19525 VAR_040476 p.Ile506Val Polymorphism rs34821155 -
EIF2AK3 Q9NZJ5 VAR_011408 p.Arg588Gln Disease - Wolcott-Rallison syndrome (WRS) [MIM:226980]
EIF2AK3 Q9NZJ5 VAR_011409 p.Ser136Cys Polymorphism rs867529 -
EIF2AK3 Q9NZJ5 VAR_011410 p.Gln166Arg Polymorphism rs13045 -
EIF2AK3 Q9NZJ5 VAR_011411 p.Ala704Ser Polymorphism rs1805165 -
EIF2AK3 Q9NZJ5 VAR_040477 p.Asp566Val Polymorphism - -
EIF2AK3 Q9NZJ5 VAR_040478 p.Pro716Leu Polymorphism - -
EIF2AK4 Q9P2K8 VAR_040479 p.His137Arg Polymorphism - -
EIF2AK4 Q9P2K8 VAR_040480 p.Arg166Trp Polymorphism - -
EIF2AK4 Q9P2K8 VAR_040481 p.Ile441Leu Polymorphism rs2291627 -
EIF2AK4 Q9P2K8 VAR_040482 p.Asp872Val Polymorphism - -
EIF2AK4 Q9P2K8 VAR_040483 p.His939Tyr Unclassified - A lung neuroendocrine carcinoma sample
EIF2AK4 Q9P2K8 VAR_040484 p.Thr1060Arg Polymorphism - -
EIF2AK4 Q9P2K8 VAR_040485 p.Gly1306Cys Polymorphism rs35602605 -
EIF2AK4 Q9P2K8 VAR_040486 p.Lys1336Arg Polymorphism rs35480871 -
EIF2AK4 Q9P2K8 VAR_040487 p.Gln1406His Polymorphism - -
EIF2B1 Q14232 VAR_015404 p.Asn208Tyr Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B2 P49770 VAR_012289 p.Glu213Gly Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B2 P49770 VAR_012290 p.Val316Asp Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B2 P49770 VAR_012321 p.Lys273Arg Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B2 P49770 VAR_012322 p.Gly329Val Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B2 P49770 VAR_016842 p.Ser171Phe Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B3 Q9NR50 VAR_015409 p.Ala87Val Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B3 Q9NR50 VAR_015410 p.Arg225Gln Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B3 Q9NR50 VAR_048920 p.Asp288Glu Polymorphism rs3738247 -
EIF2B4 Q9UI10 VAR_015405 p.Ala228Val Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B4 Q9UI10 VAR_015406 p.Arg306Gly Polymorphism - -
EIF2B4 Q9UI10 VAR_015407 p.Arg357Gln Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B4 Q9UI10 VAR_015408 p.Arg374Cys Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B4 Q9UI10 VAR_016843 p.Cys465Arg Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B4 Q9UI10 VAR_016844 p.Tyr489His Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B4 Q9UI10 VAR_048918 p.Ala93Val Polymorphism rs34155621 -
EIF2B5 Q13144 VAR_012291 p.Thr91Ala Disease rs28939717 Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_012292 p.Arg113His Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_012293 p.Gly386Val Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_012294 p.Trp628Arg Disease rs28937596 Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_012323 p.Val73Gly Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_012324 p.Leu106Phe Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_012325 p.Arg299His Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_012326 p.Arg315Gly Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_012327 p.Arg315His Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_012328 p.Arg339Pro Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_012329 p.Arg339Gln Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_012330 p.Arg339Trp Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_012331 p.Val430Ala Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_012332 p.Ile587Val Polymorphism rs843358 -
EIF2B5 Q13144 VAR_012333 p.Glu650Lys Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_016845 p.Arg195Cys Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_016846 p.Arg195His Disease - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
EIF2B5 Q13144 VAR_048919 p.Asn200Thr Polymorphism rs2971409 -
EIF2D P41214 VAR_052507 p.Thr210Ile Polymorphism rs35252702 -
EIF2S2 P20042 VAR_048909 p.Glu177Asp Polymorphism rs17856024 -
EIF2S3 P41091 VAR_002352 p.Lys125Arg Polymorphism rs16997659 -
EIF3A Q14152 VAR_024438 p.Glu386Lys Polymorphism rs967185 -
EIF3A Q14152 VAR_048921 p.Lys694Asn Polymorphism rs431898 -
EIF3A Q14152 VAR_048922 p.Asp993Glu Polymorphism rs532138 -
EIF3B P55884 VAR_047972 p.Ser64Pro Polymorphism rs9690787 -
EIF3B P55884 VAR_047973 p.Asp793Glu Polymorphism rs1063257 -
EIF3E P60228 VAR_046480 p.Ala185Val Polymorphism rs17856554 -
EIF3F O00303 VAR_014452 p.Trp172Leu Polymorphism rs1044058 -
EIF3F O00303 VAR_029267 p.Pro39Leu Polymorphism rs1043738 -
EIF3J O75822 VAR_034007 p.Ala141Thr Polymorphism rs2303578 -
EIF3L Q9Y262 VAR_053937 p.Asn239Ser Polymorphism rs11551387 -
EIF3M Q7L2H7 VAR_036752 p.Gly37Arg Polymorphism rs11557143 -
EIF3M Q7L2H7 VAR_036753 p.Glu80Gly Unclassified - A breast cancer sample
EIF3M Q7L2H7 VAR_036754 p.Gln346Arg Polymorphism rs1802363 -
EIF4A2 Q14240 VAR_035838 p.Val181Leu Unclassified - A breast cancer sample
EIF4A2 Q14240 VAR_052158 p.Gln93His Polymorphism rs11538616 -
EIF4B P23588 VAR_064710 p.Pro203Arg Unclassified - -
EIF4E1B A6NMX2 VAR_044209 p.Asp227Tyr Polymorphism rs13163938 -
EIF4G1 Q04637 VAR_036117 p.Pro696Leu Unclassified - A colorectal cancer sample
EIF4G1 Q04637 VAR_055704 p.Tyr311Cys Polymorphism rs16858632 -
EIF4G1 Q04637 VAR_055705 p.Leu1233Pro Polymorphism rs2230570 -
EIF4G1 Q04637 VAR_061147 p.Thr161Ala Polymorphism rs13319149 -
EIF4G1 Q04637 VAR_061148 p.Pro1229Ala Polymorphism rs35629949 -
EIF4G1 Q04637 VAR_063040 p.Met432Val Polymorphism rs2178403 -
EIF4G1 Q04637 VAR_066571 p.Pro71Ser Polymorphism rs113810947 -
EIF4G1 Q04637 VAR_066573 p.Ala502Val Disease rs111290936 Parkinson disease type 18 (PARK18) [MIM:614251]
EIF4G1 Q04637 VAR_066574 p.Gly686Cys Polymorphism rs112019125 -
EIF4G1 Q04637 VAR_066575 p.Ile806Val Polymorphism rs62287499 -
EIF4G1 Q04637 VAR_066576 p.Thr829Ser Polymorphism rs111500185 -
EIF4G1 Q04637 VAR_066577 p.Ser1164Arg Polymorphism rs113169049 -
EIF4G1 Q04637 VAR_066578 p.Arg1197Trp Polymorphism rs113388242 -
EIF4G1 Q04637 VAR_066579 p.Arg1205His Disease rs112176450 Parkinson disease type 18 (PARK18) [MIM:614251]
EIF4G1 Q04637 VAR_066580 p.Asn1257Ser Polymorphism rs73053766 -
EIF4G2 P78344 VAR_048923 p.Leu236Met Polymorphism rs34885591 -
EIF4G3 O43432 VAR_034009 p.Pro496Ala Polymorphism rs35176330 -
EIF4G3 O43432 VAR_048924 p.Gln378Arg Polymorphism rs35731992 -
EIF4G3 O43432 VAR_048925 p.Asp1185Glu Polymorphism rs2230572 -
EIF5 P55010 VAR_036467 p.Lys418Met Unclassified - A breast cancer sample
EIF5A2 Q9GZV4 VAR_027943 p.Glu42Asp Polymorphism - -
EIF5B O60841 VAR_055954 p.Ser337Gly Polymorphism rs10642 -
EIF5B O60841 VAR_055955 p.Arg360Gly Polymorphism rs3205296 -
EIF5B O60841 VAR_060587 p.Lys522Thr Polymorphism rs7558074 -
ELAC1 Q9H777 VAR_017424 p.Met355Val Polymorphism rs34524743 -
ELAC2 Q9BQ52 VAR_017425 p.Arg211Gln Unclassified - -
ELAC2 Q9BQ52 VAR_017426 p.Ser217Leu Polymorphism rs4792311 -
ELAC2 Q9BQ52 VAR_017427 p.Gly487Arg Unclassified - -
ELAC2 Q9BQ52 VAR_017428 p.Ala541Thr Polymorphism rs34152967 -
ELAC2 Q9BQ52 VAR_017429 p.Glu622Val Unclassified - -
ELAC2 Q9BQ52 VAR_017430 p.Ser627Leu Polymorphism - -
ELAC2 Q9BQ52 VAR_017431 p.Arg781His Unclassified - -
ELAC2 Q9BQ52 VAR_017432 p.Gly806Arg Unclassified - -
ELAC2 Q9BQ52 VAR_038210 p.Ser52Phe Polymorphism rs9895963 -
ELAC2 Q9BQ52 VAR_038211 p.Asp436Asn Polymorphism rs3760317 -
ELANE P08246 VAR_009538 p.Gly32Val Disease - Cyclic haematopoiesis (CH) [MIM:162800]
ELANE P08246 VAR_009539 p.Val177Phe Disease - Cyclic haematopoiesis (CH) [MIM:162800]
ELANE P08246 VAR_009540 p.Arg191Gln Disease - Cyclic haematopoiesis (CH) [MIM:162800]
ELANE P08246 VAR_019237 p.Val219Ile Polymorphism rs17216656 -
ELANE P08246 VAR_019238 p.Pro257Leu Polymorphism rs17216663 -
ELANE P08246 VAR_019239 p.Pro262Leu Polymorphism rs17216670 -
ELANE P08246 VAR_038609 p.Cys55Tyr Unclassified - -
ELANE P08246 VAR_038610 p.Ala57Thr Unclassified - -
ELANE P08246 VAR_038611 p.Ile60Thr Unclassified - -
ELANE P08246 VAR_038612 p.Cys71Arg Polymorphism rs28931611 -
ELANE P08246 VAR_038613 p.Cys71Ser Unclassified - -
ELANE P08246 VAR_038614 p.Gly85Glu Unclassified - -
ELANE P08246 VAR_038615 p.Val98Leu Polymorphism - -
ELANE P08246 VAR_038616 p.Val101Leu Polymorphism - -
ELANE P08246 VAR_038617 p.Val101Met Polymorphism rs28929494 -
ELANE P08246 VAR_038619 p.Ser126Leu Unclassified - -
ELANE P08246 VAR_038620 p.Pro139Leu Polymorphism rs28929493 -
ELANE P08246 VAR_038621 p.Cys151Ser Unclassified - -
ELANE P08246 VAR_038623 p.Pro205Arg Unclassified - -
ELANE P08246 VAR_038624 p.Gly210Val Unclassified - -
ELANE P08246 VAR_038625 p.Gly214Arg Unclassified - -
ELANE P08246 VAR_064512 p.Ala25Val Disease - Neutropenia severe congenital autosomal dominant type 1 (SCN1) [MIM:202700]
ELANE P08246 VAR_064513 p.Ala166Thr Disease - Neutropenia severe congenital autosomal dominant type 1 (SCN1) [MIM:202700]
ELAVL4 P26378 VAR_052204 p.Pro270Ser Polymorphism rs2494876 -
ELAVL4 P26378 VAR_058091 p.Asp166Gly Polymorphism rs17853533 -
ELAVL4 P26378 VAR_058092 p.Ala356Thr Polymorphism rs17853531 -
ELF1 P32519 VAR_048942 p.Asn58Ser Polymorphism rs7799 -
ELF1 P32519 VAR_048943 p.Thr343Ser Polymorphism rs1056820 -
ELF1 P32519 VAR_048944 p.Thr403Ile Polymorphism rs7323148 -
ELF3 P78545 VAR_048945 p.Gln317Lys Polymorphism rs1135542 -
ELK1 P19419 VAR_017108 p.Gly144Ser Polymorphism rs1997639 -
ELK1 P19419 VAR_017109 p.Ser183Asn Polymorphism rs1059579 -
ELK3 P41970 VAR_048946 p.Pro169Leu Polymorphism rs35332676 -
ELL P55199 VAR_053072 p.Ser297Asn Polymorphism rs2303694 -
ELL P55199 VAR_053073 p.Arg387Trp Polymorphism rs35245196 -
ELL2 O00472 VAR_058406 p.Ala298Thr Polymorphism rs3815768 -
ELL3 Q9HB65 VAR_018992 p.Gln11Glu Polymorphism rs2277531 -
ELL3 Q9HB65 VAR_053074 p.Trp140Arg Polymorphism rs35454865 -
ELMO1 Q92556 VAR_065824 p.Ile362Ser Polymorphism - -
ELMO2 Q96JJ3 VAR_048928 p.Glu695Asp Polymorphism rs34630674 -
ELMO3 Q96BJ8 VAR_055402 p.Lys13Gln Polymorphism rs12923138 -
ELMO3 Q96BJ8 VAR_055403 p.Asn95Asp Polymorphism rs8058861 -
ELMO3 Q96BJ8 VAR_055404 p.Arg316Cys Polymorphism rs33948247 -
ELMOD3 Q96FG2 VAR_030362 p.Arg66Cys Polymorphism rs7564372 -
ELMOD3 Q96FG2 VAR_030363 p.Thr70Ile Polymorphism rs955592 -
ELN P15502 VAR_020882 p.Gly422Ser Polymorphism rs2071307 -
ELN P15502 VAR_056869 p.Gly610Arg Polymorphism rs17855988 -
ELOVL2 Q9NXB9 VAR_039039 p.Thr216Ala Polymorphism rs17855038 -
ELOVL2 Q9NXB9 VAR_039040 p.Val225Met Polymorphism rs6919726 -
ELOVL4 Q9GZR5 VAR_012492 p.Met299Val Polymorphism rs3812153 -
ELOVL4 Q9GZR5 VAR_017043 p.Ile267Thr Polymorphism - -
ELP2 Q6IA86 VAR_024072 p.Thr128Pro Polymorphism rs1785934 -
ELP2 Q6IA86 VAR_024073 p.Val305Met Polymorphism rs1785928 -
ELP2 Q6IA86 VAR_024074 p.His359Arg Polymorphism rs16967474 -
ELP2 Q6IA86 VAR_024075 p.Glu795Gly Polymorphism rs12607773 -
ELP2 Q6IA86 VAR_024076 p.His806Pro Polymorphism rs1044128 -
ELP2 Q6IA86 VAR_033804 p.Ile541Thr Polymorphism rs28463092 -
ELP2 Q6IA86 VAR_033805 p.Thr543Pro Polymorphism rs17563617 -
ELP2 Q6IA86 VAR_033806 p.Thr815Pro Polymorphism rs1044134 -
ELP4 Q96EB1 VAR_053881 p.Ile300Leu Polymorphism rs34804357 -
ELSPBP1 Q96BH3 VAR_036760 p.Cys100Trp Polymorphism rs3745751 -
ELSPBP1 Q96BH3 VAR_036761 p.Asp170Asn Polymorphism rs35362679 -
ELSPBP1 Q96BH3 VAR_036762 p.Glu199Lys Polymorphism rs2303690 -
ELSPBP1 Q96BH3 VAR_036763 p.Asp215Asn Polymorphism rs6509358 -
ELTD1 Q9HBW9 VAR_047072 p.Val300Leu Polymorphism rs12754818 -
ELTD1 Q9HBW9 VAR_047073 p.His599Gln Polymorphism rs1968956 -
ELTD1 Q9HBW9 VAR_047074 p.Ala620Gly Polymorphism rs2275902 -
EMD P50402 VAR_005198 p.Ser54Phe Disease - Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300]
EMD P50402 VAR_005199 p.Pro183His Disease - Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300]
EMD P50402 VAR_005200 p.Pro183Thr Disease - Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300]
EMD P50402 VAR_016016 p.Gln133His Disease - Emery-Dreifuss muscular dystrophy type 1 (EDMD1) [MIM:310300]
EMD P50402 VAR_038433 p.Asp149His Polymorphism rs2070818 -
EME1 Q96AY2 VAR_025337 p.Ile49Val Polymorphism rs9896405 -
EME1 Q96AY2 VAR_025338 p.Glu69Asp Polymorphism rs3760413 -
EME1 Q96AY2 VAR_025339 p.Ile350Thr Polymorphism rs12450550 -
EME1 Q96AY2 VAR_055708 p.Lys5Asn Polymorphism rs35248609 -
EME1 Q96AY2 VAR_055709 p.Phe63Leu Polymorphism rs17714854 -
EME1 Q96AY2 VAR_055710 p.Val347Ile Polymorphism rs7222520 -
EMG1 Q92979 VAR_050237 p.Ala34Gly Polymorphism rs11064480 -
EMG1 Q92979 VAR_062480 p.Asp86Gly Disease - Bowen-Conradi syndrome (BWCNS) [MIM:211180]
EMID1 Q96A84 VAR_019803 p.Ala107Gly Polymorphism rs743920 -
EMID2 Q96A83 VAR_057530 p.Pro427Leu Polymorphism rs17471501 -
EMILIN1 Q9Y6C2 VAR_046095 p.Gln149Arg Polymorphism rs2736976 -
EMILIN1 Q9Y6C2 VAR_046096 p.Gln536Arg Polymorphism rs36069611 -
EMILIN1 Q9Y6C2 VAR_046097 p.Glu903Lys Polymorphism rs36045790 -
EMILIN2 Q9BXX0 VAR_057528 p.Ala215Thr Polymorphism rs16943977 -
EMILIN2 Q9BXX0 VAR_057529 p.Met259Val Polymorphism rs35267664 -
EMILIN2 Q9BXX0 VAR_062003 p.Pro903Ser Polymorphism rs56288451 -
EMILIN3 Q9NT22 VAR_053075 p.Ser532Asn Polymorphism rs2235592 -
EML1 O00423 VAR_031720 p.Ala377Val Polymorphism rs34198557 -
EML1 O00423 VAR_031721 p.His552Asn Polymorphism rs17853154 -
EML1 O00423 VAR_031722 p.Ser556Pro Polymorphism rs2250718 -
EML2 O95834 VAR_022026 p.Arg357His Polymorphism rs3816045 -
EML2 O95834 VAR_024697 p.Glu235Asp Polymorphism rs1545040 -
EML2 O95834 VAR_031723 p.Met33Val Polymorphism rs12151009 -
EML2 O95834 VAR_031724 p.Leu187Phe Polymorphism rs7252175 -
EML2 O95834 VAR_035879 p.Val484Leu Unclassified - A colorectal cancer sample
EML3 Q32P44 VAR_031725 p.Gln620Lys Polymorphism rs34098002 -
EML4 Q9HC35 VAR_031726 p.Lys283Glu Polymorphism rs6736913 -
EML4 Q9HC35 VAR_031727 p.Ile382Val Polymorphism rs10202624 -
EML4 Q9HC35 VAR_031728 p.Lys398Arg Polymorphism rs28651764 -
EML4 Q9HC35 VAR_031729 p.Ser978Leu Polymorphism rs28364731 -
EML5 Q05BV3 VAR_031730 p.Ile269Val Polymorphism rs17188228 -
EMP1 P54849 VAR_050608 p.Ser57Asn Polymorphism rs34412222 -
EMP3 P54852 VAR_050609 p.Ile125Val Polymorphism rs4893 -
EMR1 Q14246 VAR_027616 p.Ala57Thr Polymorphism rs330877 -
EMR1 Q14246 VAR_027617 p.Ser140Arg Polymorphism rs330880 -
EMR1 Q14246 VAR_027618 p.Asp174Asn Polymorphism rs897738 -
EMR1 Q14246 VAR_027619 p.Asn254Ser Polymorphism rs443658 -
EMR1 Q14246 VAR_027620 p.Ala298Val Polymorphism rs370094 -
EMR1 Q14246 VAR_027621 p.Thr389Met Polymorphism rs466876 -
EMR1 Q14246 VAR_027622 p.Ile424Val Polymorphism rs457857 -
EMR1 Q14246 VAR_027623 p.Lys496Gln Polymorphism rs373533 -
EMR1 Q14246 VAR_027624 p.Ile539Val Polymorphism rs461645 -
EMR1 Q14246 VAR_027625 p.Val589Ile Polymorphism rs7256147 -
EMR1 Q14246 VAR_027626 p.Phe691Cys Polymorphism rs2229769 -
EMR1 Q14246 VAR_027627 p.Val724Leu Polymorphism rs10406580 -
EMR1 Q14246 VAR_046976 p.Arg2Leu Polymorphism rs34176643 -
EMR1 Q14246 VAR_046977 p.Met663Thr Polymorphism rs2228539 -
EMR2 Q9UHX3 VAR_026719 p.Thr605Ile Polymorphism rs4410209 -
EMR2 Q9UHX3 VAR_026720 p.Leu614Phe Polymorphism rs2524383 -
EMR2 Q9UHX3 VAR_026721 p.Ser665Phe Polymorphism rs3752187 -
EMR2 Q9UHX3 VAR_061229 p.Ala314Val Polymorphism rs35612307 -
EMR2 Q9UHX3 VAR_061230 p.Glu720Asp Polymorphism rs57865820 -
EMR3 Q9BY15 VAR_024472 p.Glu127Gln Polymorphism rs4606855 -
EMR3 Q9BY15 VAR_055926 p.Ala236Val Polymorphism rs34226397 -
EMR3 Q9BY15 VAR_060442 p.Arg385Gln Polymorphism rs8102646 -
EN2 P19622 VAR_021985 p.Leu121Phe Polymorphism rs3735653 -
ENAM Q9NRM1 VAR_020105 p.Pro724Leu Polymorphism rs3796703 -
ENAM Q9NRM1 VAR_024311 p.Phe576Leu Polymorphism rs2609428 -
ENAM Q9NRM1 VAR_024312 p.Ile648Thr Polymorphism rs7671281 -
ENAM Q9NRM1 VAR_024313 p.Arg763Gln Polymorphism rs3796704 -
ENAM Q9NRM1 VAR_047076 p.Asp767Gly Polymorphism rs3796705 -
ENC1 O14682 VAR_050040 p.Ile256Ser Polymorphism rs16872126 -
ENDOD1 O94919 VAR_022044 p.Val350Met Polymorphism rs3740862 -
ENDOD1 O94919 VAR_022045 p.Gly446Val Polymorphism rs3740861 -
ENDOG Q14249 VAR_031691 p.Ser12Leu Polymorphism rs2293969 -
ENDOU P21128 VAR_014793 p.Glu72Gln Polymorphism rs6504 -
ENDOU P21128 VAR_014794 p.Glu72Val Polymorphism rs6505 -
ENDOV Q8N8Q3 VAR_046285 p.Val29Ile Polymorphism rs35549084 -
ENDOV Q8N8Q3 VAR_046286 p.Arg112Gln Polymorphism rs34933300 -
ENDOV Q8N8Q3 VAR_046287 p.Lys114Arg Polymorphism - -
ENDOV Q8N8Q3 VAR_046288 p.His141Tyr Polymorphism - -
ENDOV Q8N8Q3 VAR_046289 p.Asp201Asn Polymorphism rs35929621 -
ENG P17813 VAR_005192 p.Thr5Met Polymorphism rs35400405 -
ENG P17813 VAR_005193 p.Gly52Val Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENG P17813 VAR_005194 p.Cys53Arg Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENG P17813 VAR_005195 p.Trp149Cys Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENG P17813 VAR_005197 p.Leu306Pro Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENG P17813 VAR_009120 p.Ala160Asp Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENG P17813 VAR_009121 p.Leu221Pro Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENG P17813 VAR_014764 p.Asp366His Polymorphism rs1800956 -
ENG P17813 VAR_026774 p.Leu8Pro Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENG P17813 VAR_026775 p.Val49Phe Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENG P17813 VAR_026776 p.Leu107Arg Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENG P17813 VAR_026780 p.Ile263Thr Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENG P17813 VAR_026781 p.Cys412Ser Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENG P17813 VAR_026782 p.Val504Met Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENG P17813 VAR_026783 p.Ser615Leu Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENG P17813 VAR_037140 p.Gly413Val Disease - Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]
ENGASE Q8NFI3 VAR_060188 p.Ser596Asn Polymorphism rs4789879 -
ENGASE Q8NFI3 VAR_060189 p.Glu731Lys Polymorphism rs11871357 -
ENO1 P06733 VAR_025172 p.Asn177Lys Polymorphism rs11544513 -
ENO1 P06733 VAR_048936 p.Pro325Gln Polymorphism rs11544514 -
ENO2 P09104 VAR_002354 p.Pro264Ala Polymorphism - -
ENO2 P09104 VAR_002355 p.Thr395Ala Polymorphism - -
ENO3 P13929 VAR_020618 p.Ser71Asn Polymorphism rs238238 -
ENO3 P13929 VAR_020619 p.Ala85Val Polymorphism rs238239 -
ENO3 P13929 VAR_020620 p.Gly156Asp Disease - Glycogen storage disease type 13 (GSD13) [MIM:612932]
ENO3 P13929 VAR_020621 p.Gly374Glu Disease - Glycogen storage disease type 13 (GSD13) [MIM:612932]
ENOSF1 Q7L5Y1 VAR_042933 p.Asp31Glu Polymorphism rs34724061 -
ENOSF1 Q7L5Y1 VAR_042934 p.Met145Thr Polymorphism rs2612086 -
ENOSF1 Q7L5Y1 VAR_042935 p.Tyr428Ser Polymorphism rs2847620 -
ENOX1 Q8TC92 VAR_052205 p.Glu16Asp Polymorphism rs7338624 -
ENPEP Q07075 VAR_030359 p.Gln213Arg Polymorphism rs10004516 -
ENPEP Q07075 VAR_030360 p.Val218Ala Polymorphism rs1126483 -
ENPEP Q07075 VAR_036047 p.Arg887Thr Unclassified - A breast cancer sample
ENPEP Q07075 VAR_057056 p.Arg437His Polymorphism rs34949711 -
ENPEP Q07075 VAR_057057 p.Ser861Arg Polymorphism rs35812243 -
ENPP1 P22413 VAR_008873 p.Lys173Gln Polymorphism rs1044498 -
ENPP1 P22413 VAR_014141 p.Leu91Pro Disease - Increased susceptibility for ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]
ENPP1 P22413 VAR_014142 p.Tyr268His Polymorphism rs1805139 -
ENPP1 P22413 VAR_014143 p.Ser287Phe Disease - Increased susceptibility for ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475]
ENPP1 P22413 VAR_014144 p.Thr779Pro Polymorphism rs1805138 -
ENPP1 P22413 VAR_018514 p.Leu579Phe Disease - Idiopathic infantile arterial calcification (IIAC) [MIM:208000]
ENPP1 P22413 VAR_018515 p.Arg774Cys Disease rs28933977 Idiopathic infantile arterial calcification (IIAC) [MIM:208000]
ENPP1 P22413 VAR_037432 p.Asn179Ser Polymorphism rs2273411 -
ENPP1 P22413 VAR_037433 p.Gly342Val Disease - Idiopathic infantile arterial calcification (IIAC) [MIM:208000]
ENPP1 P22413 VAR_037434 p.Tyr371Phe Disease - Idiopathic infantile arterial calcification (IIAC) [MIM:208000]
ENPP1 P22413 VAR_037435 p.Arg886Thr Polymorphism rs8192683 -
ENPP1 P22413 VAR_063719 p.Gly266Val Disease - Rickets hypophosphatemic autosomal recessive type 2 (ARHR2) [MIM:613312]
ENPP1 P22413 VAR_063720 p.Tyr901Ser Disease rs121908249 Rickets hypophosphatemic autosomal recessive type 2 (ARHR2) [MIM:613312]
ENPP2 Q13822 VAR_057472 p.Asn577Ser Polymorphism rs2289886 -
ENPP2 Q13822 VAR_057473 p.Ser726Leu Polymorphism rs16892767 -
ENPP2 Q13822 VAR_060469 p.Ser493Pro Polymorphism rs10283100 -
ENPP3 O14638 VAR_018516 p.Val620Met Polymorphism rs9321309 -
ENPP3 O14638 VAR_031253 p.Ser786Asn Polymorphism rs17601580 -
ENPP3 O14638 VAR_046538 p.Asn744His Polymorphism rs36094194 -
ENPP4 Q9Y6X5 VAR_039884 p.His144Gln Polymorphism rs7451713 -
ENPP4 Q9Y6X5 VAR_039885 p.Ile255Val Polymorphism rs9381429 -
ENPP4 Q9Y6X5 VAR_039886 p.Ser439Ala Polymorphism rs16874289 -
ENPP5 Q9UJA9 VAR_020248 p.Leu6Ile Polymorphism rs3806995 -
ENPP5 Q9UJA9 VAR_024693 p.Ile171Val Polymorphism rs6926570 -
ENPP5 Q9UJA9 VAR_033918 p.Arg39Pro Polymorphism rs34109856 -
ENPP5 Q9UJA9 VAR_052940 p.Ile69Val Polymorphism rs34432940 -
ENPP5 Q9UJA9 VAR_052941 p.Tyr283Cys Polymorphism rs16874326 -
ENPP6 Q6UWR7 VAR_026644 p.Ser419Gly Polymorphism rs4479748 -
ENPP6 Q6UWR7 VAR_052942 p.Asp357Asn Polymorphism rs4488969 -
ENPP7 Q6UWV6 VAR_021506 p.Leu4Pro Polymorphism rs8074547 -
ENTHD1 Q8IYW4 VAR_037449 p.Ile109Thr Polymorphism rs17319801 -
ENTPD1 P49961 VAR_022099 p.Val293Ile Polymorphism rs3793744 -
ENTPD2 Q9Y5L3 VAR_050307 p.Ala103Val Polymorphism rs34618694 -
ENTPD3 O75355 VAR_027541 p.Glu440Asp Polymorphism rs4470483 -
ENTPD3 O75355 VAR_027542 p.Ala496Val Polymorphism rs1047855 -
ENTPD3 O75355 VAR_027543 p.Leu505Phe Polymorphism rs3733167 -
ENTPD3 O75355 VAR_061384 p.Arg264Gln Polymorphism rs34266806 -
ENTPD4 Q9Y227 VAR_020444 p.Lys354Glu Polymorphism rs2272641 -
ENTPD4 Q9Y227 VAR_064711 p.Ile341Val Unclassified - -
ENTPD5 O75356 VAR_050308 p.Lys314Arg Polymorphism rs17094434 -
ENTPD6 O75354 VAR_017863 p.Leu138Val Polymorphism rs1044567 -
ENTPD6 O75354 VAR_027812 p.Ser14Asn Polymorphism rs2076559 -
ENTPD6 O75354 VAR_027813 p.Lys202Glu Polymorphism rs6050446 -
ENTPD6 O75354 VAR_027814 p.Ser323Asn Polymorphism rs6138541 -
ENTPD6 O75354 VAR_050309 p.Arg157Gln Polymorphism rs34007133 -
ENTPD7 Q9NQZ7 VAR_030287 p.Val276Ala Polymorphism rs11190245 -
ENTPD8 Q5MY95 VAR_035339 p.Leu62Pro Polymorphism rs6606582 -
ENTPD8 Q5MY95 VAR_061385 p.Glu428Lys Polymorphism rs61491031 -
EOMES O95936 VAR_036069 p.Glu667Gln Unclassified - A breast cancer sample
EOMES O95936 VAR_059827 p.Ala120Gly Polymorphism rs12715125 -
EP300 Q09472 VAR_014428 p.Leu827Pro Unclassified - A breast cancer sample
EP300 Q09472 VAR_014429 p.Glu1013Gly Unclassified - A breast cancer sample
EP300 Q09472 VAR_014430 p.Ser1650Tyr Unclassified - A pancreatic cancer sample
EP300 Q09472 VAR_014431 p.Pro2221Gln Unclassified rs28937578 A colorectal cancer sample
EP300 Q09472 VAR_020425 p.Ile997Val Polymorphism rs20551 -
EP300 Q09472 VAR_038376 p.Thr2174Ser Polymorphism rs5758252 -
EP300 Q09472 VAR_038377 p.Gln2223Pro Polymorphism rs1046088 -
EP300 Q09472 VAR_055554 p.Met289Val Polymorphism rs2230111 -
EP400 Q96L91 VAR_046957 p.Thr1308Ile Polymorphism rs13377636 -
EPAS1 Q99814 VAR_042443 p.Gly537Trp Disease - Familial erythrocytosis type 4 (ECYT4) [MIM:611783]
EPAS1 Q99814 VAR_061261 p.Thr766Pro Polymorphism rs59901247 -
EPAS1 Q99814 VAR_061262 p.Pro785Thr Polymorphism rs61518065 -
EPB41 P11171 VAR_009122 p.Val214Ile Polymorphism - -
EPB41L1 Q9H4G0 VAR_066600 p.Pro854Ser Disease - Mental retardation autosomal dominant type 11 (MRD11) [MIM:614257]
EPB41L2 O43491 VAR_020145 p.Gln17His Polymorphism rs2297852 -
EPB41L3 Q9Y2J2 VAR_048353 p.Ala555Thr Polymorphism rs9966357 -
EPB41L3 Q9Y2J2 VAR_048354 p.Tyr575Cys Polymorphism rs8082898 -
EPB41L3 Q9Y2J2 VAR_048355 p.Glu859Gln Polymorphism rs8096452 -
EPB41L4A Q9HCS5 VAR_055537 p.Val132Ile Polymorphism rs34008454 -
EPB41L4B Q9H329 VAR_048356 p.Asn816Thr Polymorphism rs3750450 -
EPB41L5 Q9HCM4 VAR_042699 p.Ala462Thr Polymorphism rs1034489 -
EPB41L5 Q9HCM4 VAR_048357 p.His334Tyr Polymorphism rs28930677 -
EPB42 P16452 VAR_007482 p.Ala112Thr Disease rs28933988 Spherocytosis type 5 (SPH5) [MIM:612690]
EPB42 P16452 VAR_012268 p.Arg280Gln Disease - Spherocytosis type 5 (SPH5) [MIM:612690]
EPB42 P16452 VAR_058099 p.Asp145Tyr Disease - Spherocytosis type 5 (SPH5) [MIM:612690]
EPB42 P16452 VAR_058100 p.Arg287Cys Disease - Spherocytosis type 5 (SPH5) [MIM:612690]
EPCAM P16422 VAR_018329 p.Met115Thr Polymorphism rs1126497 -
EPCAM P16422 VAR_063829 p.Cys66Tyr Disease - Diarrhea type 5 (DIAR5) [MIM:613217]
EPG5 Q9HCE0 VAR_035278 p.Glu844Asp Polymorphism rs3744999 -
EPG5 Q9HCE0 VAR_035279 p.Val1058Ala Polymorphism rs3744998 -
EPG5 Q9HCE0 VAR_035280 p.Ile1131Val Polymorphism rs3744997 -
EPG5 Q9HCE0 VAR_035281 p.Ala1511Val Polymorphism rs1893523 -
EPG5 Q9HCE0 VAR_035282 p.Ser1864Asn Polymorphism rs34064739 -
EPG5 Q9HCE0 VAR_035283 p.Arg1985Gln Polymorphism rs34674177 -
EPG5 Q9HCE0 VAR_036525 p.Ala1511Thr Unclassified - A breast cancer sample
EPG5 Q9HCE0 VAR_036526 p.Cys1865Tyr Unclassified - A breast cancer sample
EPG5 Q9HCE0 VAR_036527 p.Arg2056Trp Unclassified - A breast cancer sample
EPG5 Q9HCE0 VAR_062210 p.Lys182Glu Polymorphism rs59422275 -
EPHA1 P21709 VAR_028265 p.Val160Ala Polymorphism rs4725617 -
EPHA1 P21709 VAR_028266 p.Arg492Gln Polymorphism rs11768549 -
EPHA1 P21709 VAR_028267 p.Met900Val Polymorphism rs6967117 -
EPHA1 P21709 VAR_042115 p.Arg351Cys Polymorphism rs56006153 -
EPHA1 P21709 VAR_042116 p.Arg575Gln Polymorphism rs35719334 -
EPHA1 P21709 VAR_042117 p.Ala585Thr Polymorphism rs34178823 -
EPHA1 P21709 VAR_042118 p.Pro697Leu Polymorphism rs34372369 -
EPHA1 P21709 VAR_042119 p.Glu703Lys Unclassified - A breast pleomorphic lobular carcinoma sample
EPHA1 P21709 VAR_042120 p.Ser807Arg Polymorphism rs56244405 -
EPHA10 Q5JZY3 VAR_042159 p.Arg150His Unclassified - A gastric adenocarcinoma sample
EPHA10 Q5JZY3 VAR_042160 p.Thr220Lys Polymorphism rs56276182 -
EPHA10 Q5JZY3 VAR_042161 p.Phe281Ile Polymorphism rs4653328 -
EPHA10 Q5JZY3 VAR_042162 p.Leu630Pro Polymorphism - -
EPHA10 Q5JZY3 VAR_042163 p.His775Arg Unclassified - A breast infiltrating ductal carcinoma sample
EPHA10 Q5JZY3 VAR_042164 p.Ala956Thr Polymorphism - -
EPHA10 Q5JZY3 VAR_055992 p.Val103Leu Polymorphism rs34557762 -
EPHA10 Q5JZY3 VAR_055993 p.Leu629Pro Polymorphism rs17511304 -
EPHA10 Q5JZY3 VAR_055994 p.Val645Ile Polymorphism rs12405650 -
EPHA10 Q5JZY3 VAR_055995 p.Gly749Glu Polymorphism rs6671088 -
EPHA10 Q5JZY3 VAR_055996 p.Arg807Gln Polymorphism rs6670599 -
EPHA2 P29317 VAR_042121 p.Gly391Arg Polymorphism rs34192549 -
EPHA2 P29317 VAR_042122 p.Thr511Met Polymorphism rs55747232 -
EPHA2 P29317 VAR_042123 p.Arg568His Polymorphism rs56198600 -
EPHA2 P29317 VAR_042124 p.Gly777Ser Unclassified - A gastric adenocarcinoma sample
EPHA2 P29317 VAR_042125 p.Arg876His Polymorphism rs35903225 -
EPHA2 P29317 VAR_055989 p.Lys99Asn Polymorphism rs1058372 -
EPHA2 P29317 VAR_055990 p.Met631Thr Polymorphism rs34021505 -
EPHA2 P29317 VAR_058907 p.Thr940Ile Disease - Cataract posterior polar type 1 (CTPP1) [MIM:116600]
EPHA2 P29317 VAR_058908 p.Gly948Trp Disease - Cataract posterior polar type 1 (CTPP1) [MIM:116600]
EPHA2 P29317 VAR_062532 p.Arg721Gln Disease - Cataract cortical age-related type 2 (ARCC2) [MIM:613020]
EPHA3 P29320 VAR_027919 p.Arg914His Polymorphism rs17801309 -
EPHA3 P29320 VAR_036086 p.Thr37Lys Unclassified - A colorectal cancer sample
EPHA3 P29320 VAR_036087 p.Asn85Ser Unclassified - A colorectal cancer sample
EPHA3 P29320 VAR_036088 p.Ile621Leu Unclassified - A colorectal cancer sample
EPHA3 P29320 VAR_036089 p.Asp806Asn Unclassified - A colorectal cancer sample
EPHA3 P29320 VAR_042126 p.Ser229Tyr Unclassified - A lung large cell carcinoma sample
EPHA3 P29320 VAR_042127 p.Ser449Phe Unclassified - A lung neuroendocrine carcinoma sample
EPHA3 P29320 VAR_042128 p.Gly518Leu Unclassified - A lung squamous cell carcinoma sample
EPHA3 P29320 VAR_042129 p.Ile564Val Polymorphism rs55712516 -
EPHA3 P29320 VAR_042130 p.Cys568Ser Polymorphism rs56077781 -
EPHA3 P29320 VAR_042131 p.Leu590Pro Polymorphism rs56081642 -
EPHA3 P29320 VAR_042132 p.Gly766Glu Unclassified - A lung adenocarcinoma sample
EPHA3 P29320 VAR_042133 p.Ala777Gly Polymorphism rs34437982 -
EPHA3 P29320 VAR_042134 p.Trp924Arg Polymorphism rs35124509 -
EPHA3 P29320 VAR_065831 p.Thr660Lys Unclassified - A lung carcinoma sample
EPHA3 P29320 VAR_065832 p.Thr933Met Unclassified - A lung carcinoma sample
EPHA4 P54764 VAR_042135 p.Arg269Gln Polymorphism rs35084379 -
EPHA4 P54764 VAR_042136 p.Gly370Glu Unclassified - A bladder carcinoma NOS sample
EPHA4 P54764 VAR_042137 p.Ser399Phe Unclassified - A metastatic melanoma sample
EPHA4 P54764 VAR_049721 p.Arg953Lys Polymorphism rs35341687 -
EPHA5 P54756 VAR_042138 p.Asn81Thr Polymorphism rs33932471 -
EPHA5 P54756 VAR_042139 p.Ser235Ala Polymorphism rs55710198 -
EPHA5 P54756 VAR_042140 p.Glu330Gln Polymorphism rs56205382 -
EPHA5 P54756 VAR_042141 p.Arg417Gln Unclassified - A lung adenocarcinoma sample
EPHA5 P54756 VAR_042142 p.Glu503Lys Unclassified - A lung large cell carcinoma sample
EPHA5 P54756 VAR_042143 p.Gly582Glu Unclassified - A lung adenocarcinoma sample
EPHA5 P54756 VAR_042144 p.Ala672Thr Polymorphism rs36050417 -
EPHA5 P54756 VAR_042145 p.Ser673Thr Polymorphism rs56359290 -
EPHA5 P54756 VAR_042146 p.Thr856Ile Unclassified - A lung squamous cell carcinoma sample
EPHA5 P54756 VAR_042147 p.His959Arg Polymorphism rs56312931 -
EPHA5 P54756 VAR_042148 p.Asn1032Ser Unclassified - A lung large cell carcinoma sample
EPHA5 P54756 VAR_045912 p.Tyr506Cys Polymorphism rs56074660 -
EPHA6 Q9UF33 VAR_042149 p.Phe703Ser Polymorphism - -
EPHA6 Q9UF33 VAR_055991 p.Ala710Val Polymorphism rs4857276 -
EPHA7 Q15375 VAR_022105 p.Ile138Val Polymorphism rs2278107 -
EPHA7 Q15375 VAR_022106 p.Pro278Ser Polymorphism rs2278106 -
EPHA7 Q15375 VAR_036090 p.Arg371Trp Unclassified - A colorectal cancer sample
EPHA7 Q15375 VAR_042150 p.Glu170Lys Unclassified - A colorectal adenocarcinoma sample
EPHA7 Q15375 VAR_042151 p.Gly232Arg Unclassified - A metastatic melanoma sample
EPHA7 Q15375 VAR_042152 p.Pro903Ser Unclassified - A metastatic melanoma sample
EPHA8 P29322 VAR_022107 p.Val444Met Polymorphism rs2295021 -
EPHA8 P29322 VAR_024514 p.Glu612Gln Polymorphism rs999765 -
EPHA8 P29322 VAR_042153 p.Gly45Ser Polymorphism rs45498698 -
EPHA8 P29322 VAR_042154 p.Val60Leu Polymorphism rs56402644 -
EPHA8 P29322 VAR_042155 p.Asn123Lys Unclassified - A breast infiltrating ductal carcinoma sample
EPHA8 P29322 VAR_042156 p.Arg179Cys Unclassified - A gastric adenocarcinoma sample
EPHA8 P29322 VAR_042157 p.Arg198Leu Unclassified - A lung adenocarcinoma sample
EPHA8 P29322 VAR_042158 p.Pro860Leu Unclassified - A metastatic melanoma sample
EPHA8 P29322 VAR_061292 p.Pro321Leu Polymorphism rs56656925 -
EPHB1 P54762 VAR_011801 p.Thr87Ser Polymorphism rs1042794 -
EPHB1 P54762 VAR_011802 p.Gly152Arg Polymorphism rs1042793 -
EPHB1 P54762 VAR_011803 p.Arg367Gly Polymorphism rs1042789 -
EPHB1 P54762 VAR_011804 p.Arg485Ser Polymorphism rs1042788 -
EPHB1 P54762 VAR_011805 p.Met847Thr Polymorphism rs1042785 -
EPHB1 P54762 VAR_042165 p.Met18Val Polymorphism rs55650774 -
EPHB1 P54762 VAR_042166 p.Thr387Met Polymorphism rs56396912 -
EPHB1 P54762 VAR_042167 p.Ser707Thr Unclassified - An ovarian undifferentiated carcinoma sample
EPHB1 P54762 VAR_042168 p.Ile719Val Unclassified - A gastric adenocarcinoma sample
EPHB1 P54762 VAR_042169 p.Arg743Gln Unclassified - A gastric adenocarcinoma sample
EPHB1 P54762 VAR_042170 p.Ala912Thr Polymorphism rs56345346 -
EPHB1 P54762 VAR_042171 p.Thr981Met Polymorphism rs56186270 -
EPHB1 P54762 VAR_058479 p.Arg973Trp Polymorphism rs1042784 -
EPHB2 P29323 VAR_032853 p.Arg199His Disease - Prostate cancer (PC) [MIM:176807]
EPHB2 P29323 VAR_032854 p.Ala279Ser Disease rs35882952 Prostate cancer (PC) [MIM:176807]
EPHB2 P29323 VAR_032855 p.Val650Ala Disease - Prostate cancer (PC) [MIM:176807]
EPHB2 P29323 VAR_032856 p.His679Asn Disease - Prostate cancer (PC) [MIM:176807]
EPHB2 P29323 VAR_032857 p.Met883Val Disease - Prostate cancer (PC) [MIM:176807]
EPHB2 P29323 VAR_032858 p.Ile909Met Disease - Prostate cancer (PC) [MIM:176807]
EPHB2 P29323 VAR_042172 p.Cys289Gly Polymorphism - -
EPHB2 P29323 VAR_042173 p.Ile361Val Polymorphism rs56180036 -
EPHB2 P29323 VAR_042174 p.Asp678Asn Polymorphism rs28936395 -
EPHB2 P29323 VAR_042175 p.Arg844Trp Polymorphism rs55826626 -
EPHB3 P54753 VAR_042176 p.Arg168Leu Unclassified - A lung small cell carcinoma sample
EPHB3 P54753 VAR_042177 p.Arg440Cys Polymorphism rs56029711 -
EPHB3 P54753 VAR_042178 p.Ile579Val Polymorphism rs56103851 -
EPHB3 P54753 VAR_042179 p.Ile601Leu Polymorphism rs56129875 -
EPHB3 P54753 VAR_042180 p.Arg724Trp Unclassified - A lung neuroendocrine carcinoma sample
EPHB4 P54760 VAR_042181 p.Pro67Leu Polymorphism rs34653459 -
EPHB4 P54760 VAR_042182 p.Val113Ile Polymorphism rs55866373 -
EPHB4 P54760 VAR_042183 p.Pro346Leu Unclassified - A metastatic melanoma sample
EPHB4 P54760 VAR_042184 p.Ala371Val Polymorphism rs55720981 -
EPHB4 P54760 VAR_042185 p.Asp576Glu Polymorphism rs36050247 -
EPHB4 P54760 VAR_042186 p.Arg678His Polymorphism rs55692440 -
EPHB4 P54760 VAR_042187 p.Ala882Thr Polymorphism rs34918225 -
EPHB4 P54760 VAR_042188 p.Arg889Trp Unclassified - A gastric adenocarcinoma sample
EPHB4 P54760 VAR_042189 p.Glu890Asp Polymorphism rs35638378 -
EPHB6 O15197 VAR_019139 p.Gly122Ser Polymorphism rs8177173 -
EPHB6 O15197 VAR_019140 p.Pro282Arg Polymorphism rs8177143 -
EPHB6 O15197 VAR_019141 p.Ser324Ala Polymorphism rs8177146 -
EPHB6 O15197 VAR_019142 p.Arg499Gln Polymorphism rs8177175 -
EPHB6 O15197 VAR_036091 p.Asp360Asn Unclassified - A colorectal cancer sample
EPHB6 O15197 VAR_036092 p.Ala603Pro Unclassified - A colorectal cancer sample
EPHB6 O15197 VAR_036093 p.Arg719Gln Unclassified - A colorectal cancer sample
EPHB6 O15197 VAR_036094 p.Asp930Gly Unclassified - A colorectal cancer sample
EPHB6 O15197 VAR_042190 p.Ser170Thr Polymorphism - -
EPHB6 O15197 VAR_042191 p.Ala221Val Polymorphism - -
EPHB6 O15197 VAR_042192 p.Pro282His Polymorphism - -
EPHB6 O15197 VAR_042193 p.Arg309Gln Polymorphism - -
EPHB6 O15197 VAR_042194 p.Ser332Leu Polymorphism - -
EPHB6 O15197 VAR_042195 p.Ala662Val Polymorphism - -
EPHB6 O15197 VAR_042196 p.Pro743Ser Unclassified - An ovarian mucinous carcinoma sample
EPHB6 O15197 VAR_042197 p.Arg813His Polymorphism - -
EPHB6 O15197 VAR_042198 p.Glu875Lys Unclassified - A glioblastoma multiforme sample
EPHB6 O15197 VAR_042199 p.Ile993Val Polymorphism - -
EPHX1 P07099 VAR_005295 p.Tyr113His Polymorphism rs1051740 -
EPHX1 P07099 VAR_005296 p.His139Arg Polymorphism rs2234922 -
EPHX1 P07099 VAR_005297 p.Thr396Ile Polymorphism - -
EPHX1 P07099 VAR_013298 p.Arg49Cys Polymorphism rs2234697 -
EPHX1 P07099 VAR_013299 p.Leu260Pro Polymorphism - -
EPHX1 P07099 VAR_013300 p.Arg454Gln Polymorphism rs2234701 -
EPHX1 P07099 VAR_018347 p.Glu44Gln Polymorphism - -
EPHX1 P07099 VAR_023303 p.Arg43Thr Polymorphism rs3738046 -
EPHX1 P07099 VAR_023304 p.Val285Leu Polymorphism rs45449793 -
EPHX1 P07099 VAR_023305 p.Thr408Met Polymorphism rs45495897 -
EPHX1 P07099 VAR_023306 p.Leu452Gln Polymorphism rs45563137 -
EPHX1 P07099 VAR_051828 p.Thr275Ala Polymorphism rs35073925 -
EPHX2 P34913 VAR_014852 p.Arg287Gln Polymorphism rs751141 -
EPHX2 P34913 VAR_033991 p.Arg103Cys Polymorphism rs17057255 -
EPHX2 P34913 VAR_051059 p.Lys55Arg Polymorphism rs41507953 -
EPHX2 P34913 VAR_055392 p.Gly21Ala Polymorphism - -
EPHX2 P34913 VAR_055393 p.Arg52Gln Polymorphism - -
EPHX2 P34913 VAR_055394 p.Cys154Tyr Polymorphism rs57699806 -
EPHX2 P34913 VAR_055395 p.Pro225Leu Polymorphism - -
EPHX2 P34913 VAR_055396 p.Met369Val Polymorphism - -
EPHX2 P34913 VAR_055397 p.Glu470Gly Polymorphism - -
EPHX4 Q8IUS5 VAR_031235 p.Tyr321Phe Polymorphism rs17854127 -
EPM2A O95278 VAR_019465 p.Ser25Pro Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019466 p.Glu28Lys Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019467 p.Trp32Gly Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019468 p.Ala46Pro Unclassified - -
EPM2A O95278 VAR_019469 p.Phe84Leu Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019470 p.Phe88Leu Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019471 p.Arg91Pro Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019472 p.Arg108Cys Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019473 p.Glu114Asp Polymorphism - -
EPM2A O95278 VAR_019474 p.Arg171His Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019475 p.Thr187Ala Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019476 p.Thr194Ile Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019477 p.Gly240Ser Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019478 p.Gly279Ser Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019479 p.Gln293Leu Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019480 p.Tyr294Asn Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_019481 p.Pro301Leu Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_046383 p.Lys140Asn Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_046384 p.Asn148Tyr Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_046385 p.Glu210Lys Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2A O95278 VAR_046386 p.Leu310Trp Disease - Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
EPM2AIP1 Q7L775 VAR_050969 p.Val333Phe Polymorphism rs4647202 -
EPM2AIP1 Q7L775 VAR_050970 p.Ala360Ser Polymorphism rs4647201 -
EPN2 O95208 VAR_047923 p.Pro531Thr Polymorphism rs1062727 -
EPN2 O95208 VAR_053080 p.Val401Ala Polymorphism rs6587220 -
EPN2 O95208 VAR_053081 p.Pro532Thr Polymorphism rs1062727 -
EPN3 Q9H201 VAR_059973 p.Pro544Thr Polymorphism rs4794159 -
EPO P01588 VAR_009871 p.Pro149Gln Unclassified - An hepatocellular carcinoma
EPOR P19235 VAR_027372 p.Asn487Ser Disease - Familial erythrocytosis type 1 (ECYT1) [MIM:133100]
EPOR P19235 VAR_027373 p.Pro488Ser Disease - Familial erythrocytosis type 1 (ECYT1) [MIM:133100]
EPOR P19235 VAR_033919 p.Pro380Ala Polymorphism rs35423344 -
EPRS P07814 VAR_037288 p.Ala296Pro Polymorphism rs35999099 -
EPRS P07814 VAR_037289 p.Asp308Glu Polymorphism rs2230301 -
EPRS P07814 VAR_037290 p.Gln334His Polymorphism rs1063236 -
EPRS P07814 VAR_037291 p.Pro893His Polymorphism rs5030751 -
EPRS P07814 VAR_037292 p.Ile1043Val Polymorphism rs5030752 -
EPRS P07814 VAR_037293 p.Ser1107Phe Polymorphism rs12144752 -
EPRS P07814 VAR_037294 p.Thr1399Asn Polymorphism rs34559775 -
EPRS P07814 VAR_057358 p.Glu913Gly Polymorphism rs2230302 -
EPS15 P42566 VAR_016142 p.Ile822Met Polymorphism rs17567 -
EPS8 Q12929 VAR_050971 p.Asp761Glu Polymorphism rs7137185 -
EPS8 Q12929 VAR_050972 p.Ala806Ser Polymorphism rs1802658 -
EPS8L1 Q8TE68 VAR_056870 p.Gln457Glu Polymorphism rs1628576 -
EPS8L1 Q8TE68 VAR_060375 p.Ala4Thr Polymorphism rs12609976 -
EPS8L1 Q8TE68 VAR_060376 p.Arg288Gly Polymorphism rs1620074 -
EPS8L1 Q8TE68 VAR_060377 p.Lys669Arg Polymorphism rs1054940 -
EPS8L1 Q8TE68 VAR_061647 p.Leu703Pro Polymorphism rs60073068 -
EPS8L3 Q8TE67 VAR_026580 p.Gly163Ser Polymorphism rs6693815 -
EPS8L3 Q8TE67 VAR_026581 p.His293Tyr Polymorphism rs3818562 -
EPS8L3 Q8TE67 VAR_026582 p.Pro356Ser Polymorphism rs11102001 -
EPS8L3 Q8TE67 VAR_050976 p.Met35Ile Polymorphism rs17598321 -
EPS8L3 Q8TE67 VAR_050977 p.Arg581Gln Polymorphism rs35072794 -
EPX P11678 VAR_015376 p.Arg286His Disease - Eosinophil peroxidase deficiency (EPD) [MIM:261500]
EPX P11678 VAR_020031 p.Asn572Tyr Polymorphism rs2302311 -
EPX P11678 VAR_025138 p.Ile40Met Polymorphism rs11079339 -
EPX P11678 VAR_025139 p.Gln122His Polymorphism rs11652709 -
EPX P11678 VAR_025140 p.Ala249Glu Polymorphism rs35896669 -
EPX P11678 VAR_025141 p.Lys276Arg Polymorphism rs35074452 -
EPX P11678 VAR_025142 p.Pro292Leu Polymorphism rs33971258 -
EPX P11678 VAR_025143 p.Arg326Pro Polymorphism rs35832094 -
EPX P11678 VAR_025144 p.Pro358Leu Polymorphism rs35135976 -
EPX P11678 VAR_025145 p.Arg364His Polymorphism rs35232062 -
EPX P11678 VAR_025146 p.Lys441Thr Polymorphism rs35750729 -
EPX P11678 VAR_025147 p.His496Gln Polymorphism rs33955150 -
EPX P11678 VAR_050485 p.Val35Ile Polymorphism rs34553736 -
EPX P11678 VAR_050486 p.Val458Met Polymorphism rs34817773 -
EPX P11678 VAR_060197 p.Arg326His Polymorphism - -
EPX P11678 VAR_060198 p.Arg326Leu Polymorphism - -
EPYC Q99645 VAR_031595 p.Ser150Cys Polymorphism rs17784152 -
ERAP1 Q9NZ08 VAR_012779 p.Arg127Pro Polymorphism rs26653 -
ERAP1 Q9NZ08 VAR_012780 p.Ile276Met Polymorphism rs26618 -
ERAP1 Q9NZ08 VAR_012781 p.Gly346Asp Polymorphism rs27895 -
ERAP1 Q9NZ08 VAR_012782 p.Met349Val Polymorphism rs2287987 -
ERAP1 Q9NZ08 VAR_012783 p.Lys528Arg Polymorphism rs30187 -
ERAP1 Q9NZ08 VAR_012784 p.Gln730Glu Polymorphism rs27044 -
ERAP1 Q9NZ08 VAR_021555 p.Asp575Asn Polymorphism rs10050860 -
ERAP1 Q9NZ08 VAR_021556 p.Arg725Gln Polymorphism rs17482078 -
ERAP1 Q9NZ08 VAR_046681 p.Glu56Lys Polymorphism rs3734016 -
ERAP1 Q9NZ08 VAR_046682 p.Asp575Gly Polymorphism rs6863093 -
ERAP2 Q6P179 VAR_038285 p.Pro214Leu Polymorphism rs3733905 -
ERAP2 Q6P179 VAR_038286 p.Lys392Asn Polymorphism rs2549782 -
ERAP2 Q6P179 VAR_038287 p.Leu669Gln Polymorphism rs17408150 -
ERAP2 Q6P179 VAR_051569 p.Leu411Arg Polymorphism rs34261036 -
ERBB2 P04626 VAR_004077 p.Ile654Val Polymorphism rs1801201 -
ERBB2 P04626 VAR_004078 p.Ile655Val Polymorphism rs1136201 -
ERBB2 P04626 VAR_016317 p.Trp452Cys Polymorphism rs4252633 -
ERBB2 P04626 VAR_016318 p.Pro1170Ala Polymorphism rs61552325 -
ERBB2 P04626 VAR_042097 p.Leu768Ser Polymorphism rs56366519 -
ERBB2 P04626 VAR_042098 p.Gly776Ser Unclassified rs28933369 A gastric adenocarcinoma sample
ERBB2 P04626 VAR_042099 p.Asn857Ser Unclassified rs28933370 An ovarian cancer sample
ERBB2 P04626 VAR_042100 p.Ala1216Asp Polymorphism rs55943169 -
ERBB2 P04626 VAR_055432 p.Leu755Pro Unclassified - A lung adenocarcinoma sample
ERBB2 P04626 VAR_055435 p.Glu914Lys Unclassified rs28933368 A glioblastoma sample
ERBB2IP Q96RT1 VAR_019346 p.Ser274Leu Polymorphism rs3213837 -
ERBB2IP Q96RT1 VAR_019347 p.Ser1112Leu Polymorphism rs3805466 -
ERBB2IP Q96RT1 VAR_019348 p.Lys1207Glu Polymorphism - -
ERBB2IP Q96RT1 VAR_028304 p.Lys746Glu Polymorphism rs16894812 -
ERBB2IP Q96RT1 VAR_046673 p.Lys914Arg Polymorphism rs34521887 -
ERBB2IP Q96RT1 VAR_046674 p.Gly1089Val Polymorphism rs35601230 -
ERBB3 P21860 VAR_042101 p.Ser20Tyr Polymorphism rs34379766 -
ERBB3 P21860 VAR_042102 p.Pro30Leu Polymorphism rs56017157 -
ERBB3 P21860 VAR_042103 p.Val104Met Unclassified - An ovarian mucinous carcinoma sample
ERBB3 P21860 VAR_042104 p.Thr204Ile Polymorphism rs56107455 -
ERBB3 P21860 VAR_042105 p.Arg683Trp Polymorphism rs56387488 -
ERBB3 P21860 VAR_042106 p.Ser717Leu Polymorphism rs35961836 -
ERBB3 P21860 VAR_042107 p.Ile744Thr Polymorphism rs55787439 -
ERBB3 P21860 VAR_042108 p.Lys998Arg Polymorphism rs56259600 -
ERBB3 P21860 VAR_042109 p.Ser1119Cys Polymorphism rs773123 -
ERBB3 P21860 VAR_042110 p.Arg1127His Polymorphism rs2271188 -
ERBB3 P21860 VAR_042111 p.Leu1177Ile Polymorphism rs55699040 -
ERBB3 P21860 VAR_042112 p.Thr1254Lys Polymorphism rs55709407 -
ERBB3 P21860 VAR_049710 p.Asn385Ser Polymorphism rs12320176 -
ERBB3 P21860 VAR_049711 p.Gly1271Ser Polymorphism rs11171743 -
ERBB4 Q15303 VAR_042113 p.Thr140Ile Unclassified - A colorectal adenocarcinoma sample
ERBB4 Q15303 VAR_042114 p.Ser303Tyr Unclassified - A lung squamous cell carcinoma sample
ERC1 Q8IUD2 VAR_051304 p.Ser50Gly Polymorphism rs35037408 -
ERC1 Q8IUD2 VAR_051305 p.Thr1032Ala Polymorphism rs12319376 -
ERC2 O15083 VAR_050973 p.Asn542Ser Polymorphism rs12488237 -
ERCC1 P07992 VAR_019167 p.Ala266Thr Polymorphism rs3212977 -
ERCC1 P07992 VAR_032776 p.Phe231Leu Disease - Cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:610758]
ERCC2 P18074 VAR_003622 p.Arg112His Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_003622 p.Arg112His Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_003623 p.Leu461Val Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_003623 p.Leu461Val Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_003625 p.Ser541Arg Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_003626 p.Arg616Pro Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_003626 p.Arg616Pro Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_003627 p.Gly602Asp Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_003628 p.Gly675Arg Unclassified - -
ERCC2 P18074 VAR_003630 p.Arg722Trp Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_003631 p.Ala725Pro Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_008187 p.Gly47Arg Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_008188 p.Asp234Asn Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_008189 p.Cys259Tyr Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_008191 p.Tyr542Cys Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_008192 p.Arg601Leu Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_008193 p.Arg616Trp Disease - Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]
ERCC2 P18074 VAR_008193 p.Arg616Trp Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_008194 p.Arg658Cys Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_008195 p.Arg658His Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_008196 p.Asp673Gly Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_008197 p.Arg683Gln Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_008198 p.Arg683Trp Disease rs41556519 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_008199 p.Gly713Arg Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_011412 p.Ile199Met Polymorphism rs1799791 -
ERCC2 P18074 VAR_011413 p.His201Tyr Polymorphism rs1799792 -
ERCC2 P18074 VAR_011414 p.Asp312Asn Polymorphism rs1799793 -
ERCC2 P18074 VAR_011415 p.Arg616Cys Polymorphism - -
ERCC2 P18074 VAR_011416 p.Lys751Gln Polymorphism rs13181 -
ERCC2 P18074 VAR_017282 p.Thr76Ala Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_017283 p.Leu485Pro Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_017284 p.Arg487Gly Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_017285 p.Arg511Gln Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_017287 p.Arg592Pro Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_017288 p.Ala594Pro Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_017289 p.Arg601Trp Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_017290 p.Arg658Gly Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_017291 p.Cys663Arg Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC2 P18074 VAR_017292 p.Arg666Trp Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC2 P18074 VAR_017293 p.Asp681Asn Disease - Cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]
ERCC2 P18074 VAR_017293 p.Asp681Asn Disease - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
ERCC3 P19447 VAR_003632 p.Phe99Ser Disease - Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]
ERCC3 P19447 VAR_008186 p.Thr119Pro Disease - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
ERCC3 P19447 VAR_014344 p.Ser735Pro Polymorphism rs4150522 -
ERCC3 P19447 VAR_014766 p.Lys117Arg Polymorphism rs1805161 -
ERCC3 P19447 VAR_014767 p.Gly402Cys Polymorphism rs1805162 -
ERCC3 P19447 VAR_017294 p.Ser704Leu Polymorphism rs4150521 -
ERCC3 P19447 VAR_035942 p.Lys418Gln Unclassified - A breast cancer sample
ERCC4 Q92889 VAR_005849 p.Gly703Asp Polymorphism - -
ERCC4 Q92889 VAR_005850 p.Arg799Trp Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
ERCC4 Q92889 VAR_008200 p.Ile225Met Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
ERCC4 Q92889 VAR_008201 p.Arg454Trp Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
ERCC4 Q92889 VAR_008202 p.Arg490Gln Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
ERCC4 Q92889 VAR_008203 p.Glu502Lys Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
ERCC4 Q92889 VAR_008204 p.Gly513Arg Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
ERCC4 Q92889 VAR_008205 p.Ile529Thr Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
ERCC4 Q92889 VAR_008206 p.Thr567Ala Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
ERCC4 Q92889 VAR_013395 p.Pro379Ser Polymorphism rs1799802 -
ERCC4 Q92889 VAR_013396 p.Arg415Gln Polymorphism rs1800067 -
ERCC4 Q92889 VAR_013397 p.Arg576Thr Polymorphism rs1800068 -
ERCC4 Q92889 VAR_013398 p.Leu608Pro Disease - Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]
ERCC4 Q92889 VAR_013399 p.Ile717Thr Polymorphism - -
ERCC4 Q92889 VAR_013408 p.Glu875Gly Polymorphism rs1800124 -
ERCC4 Q92889 VAR_014769 p.Ala168Val Polymorphism rs2020961 -
ERCC4 Q92889 VAR_014770 p.Ser662Pro Polymorphism rs2020955 -
ERCC4 Q92889 VAR_014771 p.Ile706Thr Polymorphism rs1800069 -
ERCC4 Q92889 VAR_014772 p.Gly912Glu Polymorphism rs2020956 -
ERCC4 Q92889 VAR_019201 p.Ile873Val Polymorphism rs2020957 -
ERCC4 Q92889 VAR_034802 p.Arg153Pro Disease - XFE progeroid syndrome (XFEPS) [MIM:610965]
ERCC4 Q92889 VAR_057477 p.Val33Leu Polymorphism rs34205098 -
ERCC4 Q92889 VAR_057478 p.Ser768Phe Polymorphism rs12928650 -
ERCC4 Q92889 VAR_057479 p.Ala860Asp Polymorphism rs4986933 -
ERCC5 P28715 VAR_007732 p.Met254Val Polymorphism rs1047769 -
ERCC5 P28715 VAR_007733 p.Ala792Val Disease - Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]
ERCC5 P28715 VAR_007734 p.Asp1104His Polymorphism rs17655 -
ERCC5 P28715 VAR_014829 p.Ser311Cys Polymorphism rs2307491 -
ERCC5 P28715 VAR_015280 p.Pro72His Disease - Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]
ERCC5 P28715 VAR_017096 p.Ala874Thr Disease rs28929496 Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]
ERCC5 P28715 VAR_017097 p.Leu858Pro Disease - Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]
ERCC5 P28715 VAR_020431 p.Val145Ile Polymorphism rs4987063 -
ERCC5 P28715 VAR_020432 p.Gln256Arg Polymorphism rs4150313 -
ERCC5 P28715 VAR_020433 p.Cys529Ser Polymorphism rs2227869 -
ERCC5 P28715 VAR_020434 p.Gln680Arg Polymorphism rs4987168 -
ERCC5 P28715 VAR_020435 p.Asn879Ser Polymorphism rs4150342 -
ERCC5 P28715 VAR_020436 p.Ala1119Val Polymorphism rs2227871 -
ERCC5 P28715 VAR_023120 p.His181Arg Polymorphism rs4150295 -
ERCC5 P28715 VAR_023121 p.Glu399Lys Polymorphism rs4150315 -
ERCC5 P28715 VAR_023122 p.Val590Ile Polymorphism rs4150318 -
ERCC5 P28715 VAR_023123 p.Val597Leu Polymorphism rs4150319 -
ERCC5 P28715 VAR_023124 p.Arg1009His Polymorphism rs4150387 -
ERCC5 P28715 VAR_023125 p.Gly1080Gln Polymorphism - -
ERCC5 P28715 VAR_046373 p.Phe670Leu Polymorphism rs1803542 -
ERCC5 P28715 VAR_046374 p.Gly1053Arg Polymorphism rs9514066 -
ERCC5 P28715 VAR_046375 p.Gly1080Arg Polymorphism rs9514067 -
ERCC6 Q03468 VAR_001216 p.Lys255Thr Polymorphism - -
ERCC6 Q03468 VAR_001217 p.Gly399Asp Polymorphism rs2228528 -
ERCC6 Q03468 VAR_001218 p.Arg670Trp Disease - Cockayne syndrome type B (CSB) [MIM:133540]
ERCC6 Q03468 VAR_001219 p.Trp851Arg Disease - Cockayne syndrome type B (CSB) [MIM:133540]
ERCC6 Q03468 VAR_001220 p.Val957Gly Disease - Cockayne syndrome type B (CSB) [MIM:133540]
ERCC6 Q03468 VAR_001221 p.Pro1042Leu Disease - Cockayne syndrome type B (CSB) [MIM:133540]
ERCC6 Q03468 VAR_001222 p.Pro1095Arg Polymorphism rs4253208 -
ERCC6 Q03468 VAR_001223 p.Met1097Val Polymorphism rs2228526 -
ERCC6 Q03468 VAR_001224 p.Arg1213Gly Polymorphism rs2228527 -
ERCC6 Q03468 VAR_001225 p.Gln1413Arg Polymorphism rs2228529 -
ERCC6 Q03468 VAR_016301 p.Asp425Ala Polymorphism rs4253046 -
ERCC6 Q03468 VAR_016302 p.Gly446Asp Polymorphism rs4253047 -
ERCC6 Q03468 VAR_016303 p.Thr942Met Polymorphism rs2228525 -
ERCC6 Q03468 VAR_016304 p.Tyr1002Cys Polymorphism rs4253206 -
ERCC6 Q03468 VAR_016305 p.Arg1230Pro Polymorphism rs4253211 -
ERCC6 Q03468 VAR_016306 p.Val1308Leu Polymorphism rs2229761 -
ERCC6 Q03468 VAR_016307 p.Gly1322Val Polymorphism rs4253219 -
ERCC6 Q03468 VAR_016308 p.Gly1372Arg Polymorphism rs4253227 -
ERCC6 Q03468 VAR_016309 p.Gly1382Arg Polymorphism rs4253228 -
ERCC6 Q03468 VAR_016310 p.Gly1410Arg Polymorphism rs4253229 -
ERCC6 Q03468 VAR_016311 p.Thr1441Ile Polymorphism rs4253230 -
ERCC6 Q03468 VAR_036021 p.Pro591Ala Unclassified - A colorectal cancer sample
ERCC6 Q03468 VAR_036022 p.Arg652Leu Unclassified - A colorectal cancer sample
ERCC6 Q03468 VAR_036023 p.Arg1038Thr Unclassified - A breast cancer sample
ERCC6 Q03468 VAR_036024 p.Glu1119Gln Unclassified - A breast cancer sample
ERCC6 Q03468 VAR_036025 p.Glu1119Val Unclassified - A breast cancer sample
ERCC6 Q03468 VAR_037436 p.Thr1220Ile Polymorphism rs34704611 -
ERCC6 Q03468 VAR_037437 p.Asp1355Glu Polymorphism rs34917815 -
ERCC6 Q03468 VAR_054153 p.Arg134Trp Polymorphism - -
ERCC6 Q03468 VAR_063511 p.Asn680Asp Disease - Cockayne syndrome type B (CSB) [MIM:133540]
ERCC6 Q03468 VAR_063512 p.Trp686Cys Disease - Cockayne syndrome type B (CSB) [MIM:133540]
ERCC6 Q03468 VAR_063513 p.Ser687Leu Disease - Cockayne syndrome type B (CSB) [MIM:133540]
ERCC6 Q03468 VAR_063514 p.Leu871Pro Disease - Cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) [MIM:214150]
ERCC6 Q03468 VAR_063515 p.Leu987Pro Disease - Cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) [MIM:214150]
ERCC8 Q13216 VAR_016319 p.Tyr200Cys Polymorphism rs4647105 -
ERCC8 Q13216 VAR_025380 p.Ala160Val Disease - Cockayne syndrome type A (CSA) [MIM:216400]
ERCC8 Q13216 VAR_025381 p.Ala205Pro Disease - Cockayne syndrome type A (CSA) [MIM:216400]
ERCC8 Q13216 VAR_053392 p.Ser150Cys Polymorphism rs167037 -
ERCC8 Q13216 VAR_063507 p.Ala160Thr Disease - Cockayne syndrome type A (CSA) [MIM:216400]
ERCC8 Q13216 VAR_063508 p.Trp194Cys Disease - Cockayne syndrome type A (CSA) [MIM:216400]
ERCC8 Q13216 VAR_063509 p.Leu202Ser Disease - Cockayne syndrome type A (CSA) [MIM:216400]
ERCC8 Q13216 VAR_063510 p.Asp266Gly Disease - Cockayne syndrome type A (CSA) [MIM:216400]
EREG O14944 VAR_033827 p.Arg147Gln Polymorphism rs35275884 -
EREG O14944 VAR_035833 p.Gly42Ala Unclassified - A breast cancer sample
ERF P50548 VAR_048947 p.Arg205His Polymorphism rs1053655 -
ERGIC3 Q9Y282 VAR_036553 p.Thr297Lys Unclassified - A colorectal cancer sample
ERGIC3 Q9Y282 VAR_048939 p.Ile113Leu Polymorphism rs35505616 -
ERI1 Q8IV48 VAR_018107 p.Leu16Pro Polymorphism rs2288672 -
ERI2 A8K979 VAR_043848 p.Ile206Thr Unclassified - A colorectal cancer sample
ERICH1 Q86X53 VAR_035915 p.Leu365Phe Unclassified - A colorectal cancer sample
ERICH1 Q86X53 VAR_050974 p.Arg403Ser Polymorphism rs1703879 -
ERLEC1 Q96DZ1 VAR_051493 p.Val318Leu Polymorphism rs2287345 -
ERLIN2 O94905 VAR_059140 p.Val71Ala Polymorphism rs2032066 -
ERMAP Q96PL5 VAR_025478 p.Ala4Val Polymorphism rs35757049 -
ERMAP Q96PL5 VAR_025479 p.His26Tyr Polymorphism rs33953680 -
ERMAP Q96PL5 VAR_025480 p.Gly35Ser Unclassified - -
ERMAP Q96PL5 VAR_025481 p.Glu47Lys Polymorphism rs56047316 -
ERMAP Q96PL5 VAR_025482 p.Gly57Arg Polymorphism rs56025238 -
ERMAP Q96PL5 VAR_025483 p.Pro60Ala Polymorphism rs56136737 -
ERMAP Q96PL5 VAR_025484 p.Arg81Gln Unclassified - -
ERMAP Q96PL5 VAR_025487 p.Cys259Arg Polymorphism rs35147822 -
ERMAP Q96PL5 VAR_025488 p.Gly263Glu Polymorphism rs34441268 -
ERMP1 Q7Z2K6 VAR_028945 p.Ser44Asn Polymorphism rs13284203 -
ERN1 O75460 VAR_040488 p.Asn244Ser Unclassified - A renal clear cell carcinoma sample
ERN1 O75460 VAR_040489 p.Val418Met Polymorphism rs55869215 -
ERN1 O75460 VAR_040490 p.Leu474Arg Unclassified - A lung adenocarcinoma sample
ERN1 O75460 VAR_040491 p.Arg635Trp Unclassified - A gastric adenocarcinoma sample
ERN1 O75460 VAR_040492 p.Asn700Ser Polymorphism - -
ERN1 O75460 VAR_040493 p.Ser769Phe Unclassified - A glioblastoma multiforme sample
ERN1 O75460 VAR_040494 p.Pro830Leu Unclassified - An ovarian serous carcinoma sample
ERN2 Q76MJ5 VAR_040495 p.Val69Ile Polymorphism - -
ERN2 Q76MJ5 VAR_040496 p.Arg118Cys Polymorphism - -
ERN2 Q76MJ5 VAR_040497 p.Arg184Cys Polymorphism - -
ERN2 Q76MJ5 VAR_040498 p.Arg271Gln Polymorphism - -
ERN2 Q76MJ5 VAR_040499 p.Ala318Thr Polymorphism - -
ERN2 Q76MJ5 VAR_040500 p.Leu410Phe Polymorphism - -
ERN2 Q76MJ5 VAR_040501 p.Ser487Thr Polymorphism - -
ERN2 Q76MJ5 VAR_040502 p.Leu504Phe Polymorphism - -
ERN2 Q76MJ5 VAR_040503 p.Arg537Gln Polymorphism rs56176960 -
ERN2 Q76MJ5 VAR_040504 p.His858Tyr Polymorphism - -
ERO1LB Q86YB8 VAR_019492 p.His465Gln Polymorphism rs1055851 -
ERO1LB Q86YB8 VAR_028012 p.Asp129Val Polymorphism rs2477599 -
ERP27 Q96DN0 VAR_052582 p.Phe52Leu Polymorphism rs35030722 -
ERRFI1 Q9UJM3 VAR_050975 p.Ile158Leu Polymorphism rs34974993 -
ERRFI1 Q9UJM3 VAR_063039 p.Asp109Asn Polymorphism rs34781518 -
ERV3-1 Q14264 VAR_017801 p.Thr90Ile Polymorphism rs6460219 -
ERV3-1 Q14264 VAR_017802 p.Cys192Tyr Polymorphism rs34639489 -
ERV3-1 Q14264 VAR_017803 p.Tyr236Cys Polymorphism - -
ERV3-1 Q14264 VAR_017804 p.Asn481Ser Polymorphism rs4618579 -
ERV3-1 Q14264 VAR_017805 p.Leu522Pro Polymorphism - -
ERV3-1 Q14264 VAR_017806 p.Asn569Ser Polymorphism rs4717229 -
ERVW-1 Q9UQF0 VAR_018638 p.Val129Ala Polymorphism - -
ERVW-1 Q9UQF0 VAR_018639 p.Arg138Gln Polymorphism rs55903518 -
ERVW-1 Q9UQF0 VAR_018640 p.Ser307Asn Polymorphism rs10266695 -
ERVW-1 Q9UQF0 VAR_018641 p.Ser477Phe Polymorphism - -
ESAM Q96AP7 VAR_049872 p.Arg273Cys Polymorphism rs12792040 -
ESCO1 Q5FWF5 VAR_022648 p.Thr221Met Polymorphism rs13381941 -
ESCO1 Q5FWF5 VAR_048167 p.Asn191Ser Polymorphism rs35087820 -
ESCO2 Q56NI9 VAR_022649 p.Trp539Gly Disease - Roberts syndrome (RBS) [MIM:268300]
ESCO2 Q56NI9 VAR_033840 p.Ala80Val Polymorphism rs4732748 -
ESCO2 Q56NI9 VAR_060994 p.Gln359Pro Polymorphism rs57479434 -
ESD P10768 VAR_005202 p.Gly190Glu Polymorphism rs9778 -
ESD P10768 VAR_022275 p.Gly257Asp Polymorphism rs15303 -
ESF1 Q9H501 VAR_024331 p.Ile550Thr Polymorphism rs3180370 -
ESF1 Q9H501 VAR_053082 p.Pro386Leu Polymorphism rs6079171 -
ESF1 Q9H501 VAR_053083 p.Ile824Leu Polymorphism rs34414644 -
ESPL1 Q14674 VAR_057703 p.Ser614Arg Polymorphism rs1318648 -
ESPL1 Q14674 VAR_057704 p.Arg699Gln Polymorphism rs34424268 -
ESPL1 Q14674 VAR_057705 p.Ile1136Val Polymorphism rs34130634 -
ESPL1 Q14674 VAR_057706 p.Thr1157Ala Polymorphism rs35428211 -
ESPL1 Q14674 VAR_057707 p.Gln1237His Polymorphism rs34396464 -
ESPL1 Q14674 VAR_057708 p.Lys1435Met Polymorphism rs1110719 -
ESPN B1AK53 VAR_043451 p.Arg322His Polymorphism rs3817911 -
ESPN B1AK53 VAR_043452 p.Tyr323Cys Polymorphism rs3817910 -
ESPN B1AK53 VAR_043453 p.Ser719Arg Disease - Deafness autosomal recessive type 36 with or without vestibular involvement (DFNB36) [MIM:609006]
ESPN B1AK53 VAR_043454 p.Asp744Asn Disease - Deafness autosomal recessive type 36 with or without vestibular involvement (DFNB36) [MIM:609006]
ESPN B1AK53 VAR_043455 p.Arg774Gln Disease - Deafness autosomal recessive type 36 with or without vestibular involvement (DFNB36) [MIM:609006]
ESPNL Q6ZVH7 VAR_037535 p.Arg167Gln Polymorphism rs34046909 -
ESPNL Q6ZVH7 VAR_037536 p.Ile568Val Polymorphism rs13033248 -
ESPNL Q6ZVH7 VAR_037537 p.Ala574Ser Polymorphism rs13006204 -
ESPNL Q6ZVH7 VAR_037538 p.Val761Ala Polymorphism rs4663845 -
ESPNL Q6ZVH7 VAR_037539 p.Gln829Arg Polymorphism rs10172220 -
ESR1 P03372 VAR_004671 p.Gly160Cys Polymorphism - -
ESR1 P03372 VAR_004672 p.Val364Glu Unclassified - -
ESR1 P03372 VAR_004673 p.Gly400Val Unclassified - -
ESR1 P03372 VAR_018905 p.Gly77Ser Polymorphism rs9340773 -
ESR1 P03372 VAR_033028 p.His6Tyr Unclassified - A breast cancer sample
ESR1 P03372 VAR_033029 p.Met264Ile Unclassified - A breast cancer sample
ESRP1 Q6NXG1 VAR_030073 p.Tyr196Cys Polymorphism rs2303454 -
ESRP2 Q9H6T0 VAR_030074 p.Ser111Leu Polymorphism rs12597504 -
ESRP2 Q9H6T0 VAR_030075 p.Ala528Val Polymorphism rs3743738 -
ESRP2 Q9H6T0 VAR_057245 p.Pro627Ser Polymorphism rs36054935 -
ESRRB O95718 VAR_043503 p.Ala110Val Disease - Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]
ESRRB O95718 VAR_043504 p.Leu320Pro Disease - Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]
ESRRB O95718 VAR_043505 p.Val342Leu Disease - Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]
ESRRB O95718 VAR_043506 p.Leu347Pro Disease - Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]
ESRRB O95718 VAR_043507 p.Pro386Ser Polymorphism - -
ESRRB O95718 VAR_043508 p.Thr389Met Disease - Deafness autosomal recessive type 35 (DFNB35) [MIM:608565]
ESRRG P62508 VAR_019229 p.Thr50Met Polymorphism rs11572693 -
ESX1 Q8N693 VAR_059352 p.Thr314Pro Polymorphism rs9697856 -
ESYT1 Q9BSJ8 VAR_038190 p.Arg764Cys Polymorphism rs35075600 -
ESYT2 A0FGR8 VAR_030725 p.Cys210Ser Polymorphism rs13233513 -
ESYT2 A0FGR8 VAR_030726 p.Ser638Gly Polymorphism rs2305473 -
ESYT3 A0FGR9 VAR_038117 p.Pro246Gln Polymorphism rs17857138 -
ESYT3 A0FGR9 VAR_038118 p.Gly416Arg Polymorphism rs6772467 -
ESYT3 A0FGR9 VAR_053835 p.Gly590Arg Polymorphism rs10935282 -
ESYT3 A0FGR9 VAR_062173 p.Thr662Ser Polymorphism rs35537868 -
ETAA1 Q9NY74 VAR_031053 p.Met221Thr Polymorphism rs13036061 -
ETAA1 Q9NY74 VAR_031054 p.Ser389Asn Polymorphism rs3770657 -
ETAA1 Q9NY74 VAR_031055 p.Pro715Leu Polymorphism rs3770656 -
ETAA1 Q9NY74 VAR_031056 p.Pro771Ser Polymorphism rs3770655 -
ETAA1 Q9NY74 VAR_035916 p.Glu50Asp Unclassified - A colorectal cancer sample
ETFA P13804 VAR_002366 p.Gly116Arg Disease - Glutaric aciduria type 2A (GA2A) [MIM:231680]
ETFA P13804 VAR_002367 p.Val157Gly Disease - Glutaric aciduria type 2A (GA2A) [MIM:231680]
ETFA P13804 VAR_002368 p.Thr266Met Disease - Glutaric aciduria type 2A (GA2A) [MIM:231680]
ETFA P13804 VAR_008547 p.Thr171Ile Polymorphism rs1801591 -
ETFB P38117 VAR_002369 p.Arg164Gln Disease - Glutaric aciduria type 2B (GA2B) [MIM:231680]
ETFB P38117 VAR_008548 p.Thr154Met Polymorphism rs1130426 -
ETFB P38117 VAR_025804 p.Asp128Asn Disease - Glutaric aciduria type 2B (GA2B) [MIM:231680]
ETFDH Q16134 VAR_036134 p.Val565Leu Unclassified - A colorectal cancer sample
ETFDH Q16134 VAR_055711 p.His94Arg Polymorphism rs1140065 -
ETFDH Q16134 VAR_062966 p.Thr31Ile Polymorphism rs11559290 -
ETHE1 O95571 VAR_023395 p.Tyr38Cys Disease - Ethylmalonic encephalopathy (EE) [MIM:602473]
ETHE1 O95571 VAR_023396 p.Thr136Ala Disease - Ethylmalonic encephalopathy (EE) [MIM:602473]
ETHE1 O95571 VAR_023397 p.Arg163Trp Disease rs28940289 Ethylmalonic encephalopathy (EE) [MIM:602473]
ETHE1 O95571 VAR_023398 p.Leu185Arg Disease - Ethylmalonic encephalopathy (EE) [MIM:602473]
ETNK2 Q9NVF9 VAR_022145 p.Arg227Gln Polymorphism rs3737657 -
ETV1 P50549 VAR_048948 p.Ser100Gly Polymorphism rs9639168 -
ETV3L Q6ZN32 VAR_039928 p.Ser19Ala Polymorphism rs16838078 -
ETV3L Q6ZN32 VAR_039929 p.Gly263Ala Polymorphism rs12136960 -
ETV3L Q6ZN32 VAR_039930 p.Met318Val Polymorphism rs12126791 -
ETV3L Q6ZN32 VAR_048949 p.Arg151Trp Polymorphism rs12083811 -
ETV4 P43268 VAR_048950 p.Arg437Cys Polymorphism rs34260468 -
ETV5 P41161 VAR_048951 p.Lys348Arg Polymorphism rs2228269 -
ETV7 Q9Y603 VAR_020314 p.Pro212Leu Polymorphism rs2234079 -
ETV7 Q9Y603 VAR_048952 p.His138Tyr Polymorphism rs9470262 -
ETV7 Q9Y603 VAR_048953 p.Gly199Ser Polymorphism rs34306145 -
ETV7 Q9Y603 VAR_048954 p.Ala250Val Polymorphism rs2234080 -
ETV7 Q9Y603 VAR_059257 p.Ala86Thr Polymorphism rs9394345 -
EURL Q9NYK6 VAR_011631 p.Gln117Arg Polymorphism rs1047976 -
EURL Q9NYK6 VAR_011632 p.Asp136Glu Polymorphism rs1047978 -
EURL Q9NYK6 VAR_054506 p.Asn115Lys Polymorphism rs2824495 -
EURL Q9NYK6 VAR_054507 p.Gln195His Polymorphism rs8128004 -
EURL Q9NYK6 VAR_054508 p.Tyr217His Polymorphism rs2824494 -
EVC P57679 VAR_009942 p.Gln74Pro Polymorphism rs2291157 -
EVC P57679 VAR_009943 p.Tyr258His Polymorphism rs6414624 -
EVC P57679 VAR_009944 p.Ser307Pro Disease - Acrofacial dysostosis Weyers type (WAD) [MIM:193530]
EVC P57679 VAR_009945 p.Gly403Ser Polymorphism - -
EVC P57679 VAR_009946 p.Arg443Gln Disease rs35953626 Ellis-van Creveld syndrome (EVC) [MIM:225500]
EVC P57679 VAR_009947 p.Thr449Lys Polymorphism rs2302075 -
EVC P57679 VAR_009948 p.Arg576Gln Polymorphism rs1383180 -
EVC P57679 VAR_009949 p.Arg760Gln Polymorphism rs2279252 -
EVC P57679 VAR_009950 p.Asp953Gly Polymorphism - -
EVC P57679 VAR_033852 p.Ala114Val Polymorphism rs16837598 -
EVC P57679 VAR_033853 p.Thr372Met Polymorphism rs28483498 -
EVC P57679 VAR_066447 p.Ser206Asn Disease - Ellis-van Creveld syndrome (EVC) [MIM:225500]
EVC P57679 VAR_066448 p.Leu623Pro Disease - Ellis-van Creveld syndrome (EVC) [MIM:225500]
EVC2 Q86UK5 VAR_017209 p.Ile283Arg Disease - Ellis-van Creveld syndrome (EVC) [MIM:225500]
EVC2 Q86UK5 VAR_017210 p.Thr699Ala Polymorphism rs730469 -
EVC2 Q86UK5 VAR_017211 p.Arg950Trp Disease - Ellis-van Creveld syndrome (EVC) [MIM:225500]
EVC2 Q86UK5 VAR_035933 p.Ala630Ser Unclassified - A colorectal cancer sample
EVC2 Q86UK5 VAR_035934 p.Leu994Val Unclassified - A colorectal cancer sample
EVC2 Q86UK5 VAR_051089 p.Ser230Gly Polymorphism rs4689278 -
EVI2B P34910 VAR_056871 p.Gly53Arg Polymorphism rs9903564 -
EVI5 O60447 VAR_028890 p.Ile336Val Polymorphism rs2391199 -
EVI5 O60447 VAR_028891 p.Gln612His Polymorphism rs11808092 -
EVI5 O60447 VAR_047753 p.Asp82Val Polymorphism rs1064580 -
EVL Q9UI08 VAR_036464 p.Pro188Leu Unclassified - A colorectal cancer sample
EVL Q9UI08 VAR_036465 p.Pro247Leu Unclassified - A colorectal cancer sample
EVPL Q92817 VAR_024579 p.Asn49Ser Polymorphism rs570145 -
EVPL Q92817 VAR_033863 p.Gln433Arg Polymorphism rs2071192 -
EVPL Q92817 VAR_057698 p.Tyr168Cys Polymorphism rs10445216 -
EVPL Q92817 VAR_057699 p.Pro1814Ser Polymorphism rs7342883 -
EVPLL A8MZ36 VAR_063399 p.Ser4Asn Polymorphism rs570145 -
EXD1 Q8NHP7 VAR_043676 p.Thr489Ala Polymorphism rs522063 -
EXD2 Q9NVH0 VAR_050980 p.Asp106Asn Polymorphism rs35010854 -
EXD2 Q9NVH0 VAR_050981 p.Gln393His Polymorphism rs8007859 -
EXD3 Q8N9H8 VAR_038945 p.Arg220Gln Polymorphism rs7389423 -
EXD3 Q8N9H8 VAR_062225 p.Arg20Gln Polymorphism rs13291830 -
EXO1 Q9UQ84 VAR_024966 p.Val27Ala Polymorphism - -
EXO1 Q9UQ84 VAR_024967 p.Val76Ile Polymorphism rs4149864 -
EXO1 Q9UQ84 VAR_024968 p.Arg93Gly Polymorphism rs4149865 -
EXO1 Q9UQ84 VAR_024969 p.Glu109Lys Unclassified - -
EXO1 Q9UQ84 VAR_024970 p.Ala137Ser Polymorphism - -
EXO1 Q9UQ84 VAR_024971 p.Asn279Ser Polymorphism rs4149909 -
EXO1 Q9UQ84 VAR_024972 p.Asn299Ser Polymorphism rs4149910 -
EXO1 Q9UQ84 VAR_024973 p.His354Arg Polymorphism rs735943 -
EXO1 Q9UQ84 VAR_024974 p.Leu410Arg Unclassified - -
EXO1 Q9UQ84 VAR_024975 p.Asp428Asn Polymorphism rs4149962 -
EXO1 Q9UQ84 VAR_024976 p.Phe438Cys Polymorphism - -
EXO1 Q9UQ84 VAR_024977 p.Thr439Met Polymorphism rs4149963 -
EXO1 Q9UQ84 VAR_024978 p.Ser456Tyr Polymorphism rs4149964 -
EXO1 Q9UQ84 VAR_024979 p.Val458Met Polymorphism rs4149965 -
EXO1 Q9UQ84 VAR_024980 p.Val460Leu Polymorphism rs4149966 -
EXO1 Q9UQ84 VAR_024981 p.Arg503Thr Polymorphism rs4149967 -
EXO1 Q9UQ84 VAR_024982 p.Glu589Lys Polymorphism rs1047840 -
EXO1 Q9UQ84 VAR_024983 p.Ser610Gly Polymorphism rs12122770 -
EXO1 Q9UQ84 VAR_024984 p.Arg634Gln Polymorphism rs4149978 -
EXO1 Q9UQ84 VAR_024985 p.Pro640Ala Polymorphism - -
EXO1 Q9UQ84 VAR_024986 p.Pro640Ser Unclassified - -
EXO1 Q9UQ84 VAR_024987 p.Glu670Gly Polymorphism rs1776148 -
EXO1 Q9UQ84 VAR_024988 p.Arg723Cys Polymorphism rs1635498 -
EXO1 Q9UQ84 VAR_024989 p.His726Pro Polymorphism - -
EXO1 Q9UQ84 VAR_024990 p.Pro757Leu Polymorphism rs9350 -
EXO1 Q9UQ84 VAR_024991 p.Gly759Glu Polymorphism rs4150001 -
EXO1 Q9UQ84 VAR_024992 p.Pro770Leu Unclassified - -
EXO1 Q9UQ84 VAR_024993 p.Ala827Val Polymorphism - -
EXOC2 Q96KP1 VAR_048956 p.Asn195Thr Polymorphism rs35600069 -
EXOC3L1 Q86VI1 VAR_036959 p.Gln561Glu Polymorphism rs9939768 -
EXOC3L1 Q86VI1 VAR_036960 p.Ser634Gly Polymorphism rs16957212 -
EXOC3L1 Q86VI1 VAR_037002 p.Tyr75Asn Unclassified - A breast cancer sample
EXOC3L1 Q86VI1 VAR_037003 p.Ala514Asp Unclassified - A breast cancer sample
EXOC3L2 Q2M3D2 VAR_036961 p.Asn173Asp Polymorphism rs10411314 -
EXOC3L4 Q17RC7 VAR_030273 p.Arg77Trp Polymorphism rs2297067 -
EXOC3L4 Q17RC7 VAR_030274 p.Asp93Glu Polymorphism rs2297066 -
EXOC3L4 Q17RC7 VAR_030275 p.Leu185His Polymorphism rs10131298 -
EXOC3L4 Q17RC7 VAR_030276 p.Gln675Arg Polymorphism rs729184 -
EXOC3L4 Q17RC7 VAR_062863 p.Gln685Glu Polymorphism rs744153 -
EXOC4 Q96A65 VAR_036292 p.Ser220Phe Unclassified - A colorectal cancer sample
EXOC4 Q96A65 VAR_036293 p.Ala599Thr Unclassified - A colorectal cancer sample
EXOC5 O00471 VAR_048957 p.Glu10Asp Polymorphism rs35132458 -
EXOC6 Q8TAG9 VAR_044522 p.Thr396Ile Polymorphism rs1326331 -
EXOC6 Q8TAG9 VAR_044523 p.Leu523Val Polymorphism rs11187225 -
EXOC6 Q8TAG9 VAR_044524 p.Thr578Ile Polymorphism rs35647717 -
EXOG Q9Y2C4 VAR_044320 p.Gly277Val Polymorphism rs1141223 -
EXOSC3 Q9NQT5 VAR_054098 p.Tyr225His Polymorphism rs3208406 -
EXOSC5 Q9NQT4 VAR_030788 p.Thr5Met Polymorphism rs10853751 -
EXOSC5 Q9NQT4 VAR_051868 p.Cys33Trp Polymorphism rs34500671 -
EXOSC7 Q15024 VAR_014923 p.Val274Leu Polymorphism rs6794 -
EXOSC7 Q15024 VAR_032765 p.Arg169Gln Polymorphism rs34512144 -
EXOSC9 Q06265 VAR_014924 p.Ser425Thr Polymorphism rs1051881 -
EXOSC9 Q06265 VAR_051867 p.Ile366Val Polymorphism rs1803183 -
EXPH5 Q8NEV8 VAR_030538 p.Arg19Gly Polymorphism rs2640738 -
EXPH5 Q8NEV8 VAR_030539 p.Arg118Leu Polymorphism rs3741046 -
EXPH5 Q8NEV8 VAR_030540 p.Glu137Val Polymorphism rs2640785 -
EXPH5 Q8NEV8 VAR_030541 p.Arg328Gln Polymorphism rs11212684 -
EXPH5 Q8NEV8 VAR_030542 p.Met512Leu Polymorphism rs17108127 -
EXPH5 Q8NEV8 VAR_030543 p.Val525Phe Polymorphism rs12146448 -
EXPH5 Q8NEV8 VAR_030544 p.Ser676Asn Polymorphism rs2846412 -
EXPH5 Q8NEV8 VAR_030545 p.Asp777Asn Polymorphism rs3741048 -
EXPH5 Q8NEV8 VAR_030546 p.Leu853Pro Polymorphism rs10749920 -
EXPH5 Q8NEV8 VAR_030547 p.Asn892Tyr Polymorphism rs10890850 -
EXPH5 Q8NEV8 VAR_030548 p.Val899Ala Polymorphism rs17108112 -
EXPH5 Q8NEV8 VAR_030549 p.Asp1240Asn Polymorphism rs11828459 -
EXPH5 Q8NEV8 VAR_030550 p.Cys1311Arg Polymorphism rs877474 -
EXPH5 Q8NEV8 VAR_030551 p.Gly1663Arg Polymorphism rs2640779 -
EXPH5 Q8NEV8 VAR_030552 p.Asn1967Asp Polymorphism rs1943382 -
EXPH5 Q8NEV8 VAR_057117 p.Met1147Ile Polymorphism rs34012545 -
EXPH5 Q8NEV8 VAR_057118 p.Ser1236Ala Polymorphism rs35520914 -
EXPH5 Q8NEV8 VAR_057119 p.Thr1343Ala Polymorphism rs34978242 -
EXPH5 Q8NEV8 VAR_057120 p.Glu1656Lys Polymorphism rs35083468 -
EXPH5 Q8NEV8 VAR_057121 p.Ile1735Phe Polymorphism rs35717245 -
EXT1 Q16394 VAR_002370 p.Arg280Gly Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
EXT1 Q16394 VAR_002371 p.Arg280Ser Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
EXT1 Q16394 VAR_002372 p.Gly339Asp Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
EXT1 Q16394 VAR_002373 p.Arg340Cys Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
EXT1 Q16394 VAR_002374 p.Arg340His Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
EXT1 Q16394 VAR_002375 p.Arg340Leu Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
EXT1 Q16394 VAR_002376 p.Arg340Ser Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
EXT1 Q16394 VAR_012815 p.Gln27Lys Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
EXT1 Q16394 VAR_012816 p.Asp164His Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
EXT1 Q16394 VAR_012820 p.Asn316Ser Disease - Chondrosarcoma (CHDSA) [MIM:215300]
EXT1 Q16394 VAR_012821 p.Ala486Val Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
EXT1 Q16394 VAR_012822 p.Pro496Leu Disease - Hereditary multiple exostoses type 1 (EXT1) [MIM:133700]
EXT2 Q93063 VAR_002378 p.Asp227Asn Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
EXT2 Q93063 VAR_012823 p.Cys85Arg Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
EXT2 Q93063 VAR_012824 p.Leu152Arg Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
EXT2 Q93063 VAR_012825 p.Arg179Ser Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
EXT2 Q93063 VAR_012826 p.Ala202Val Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
EXT2 Q93063 VAR_012827 p.Arg223Pro Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
EXT2 Q93063 VAR_012828 p.Ile380Thr Disease - Hereditary multiple exostoses type 2 (EXT2) [MIM:133701]
EXT2 Q93063 VAR_012829 p.Glu576Lys Unclassified - -
EXT2 Q93063 VAR_033921 p.Met42Val Polymorphism rs4755779 -
EXTL1 Q92935 VAR_012830 p.His379Asn Polymorphism rs2736831 -
EXTL1 Q92935 VAR_049228 p.Arg163His Polymorphism rs34277678 -
EXTL3 O43909 VAR_049229 p.Leu706Pro Polymorphism rs2269452 -
EXTL3 O43909 VAR_061194 p.Ala550Val Polymorphism rs35781576 -
EYA1 Q99502 VAR_005203 p.Ser487Pro Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
EYA1 Q99502 VAR_005204 p.Leu505Arg Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
EYA1 Q99502 VAR_016864 p.Glu363Lys Unclassified - -
EYA1 Q99502 VAR_016865 p.Gly426Ser Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
EYA1 Q99502 VAR_016866 p.Asp429Gly Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
EYA1 Q99502 VAR_016867 p.Arg440Gln Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
EYA1 Q99502 VAR_016868 p.Arg547Gly Unclassified - -
EYA1 Q99502 VAR_016869 p.Leu583Pro Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
EYA1 Q99502 VAR_024439 p.Pro20Ala Polymorphism rs1445404 -
EYA1 Q99502 VAR_044452 p.Ser242Gly Disease - Branchiootic syndrome type 1 (BOS1) [MIM:602588]
EYA1 Q99502 VAR_064942 p.Pro95Ser Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
EYA1 Q99502 VAR_064943 p.Gly140Ser Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
EYA1 Q99502 VAR_064944 p.Glu363Val Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
EYA1 Q99502 VAR_064945 p.Leu514Pro Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
EYA1 Q99502 VAR_064946 p.Tyr527Cys Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
EYA1 Q99502 VAR_064947 p.Met569Thr Disease - Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
EYA2 O00167 VAR_048964 p.Pro83Ser Polymorphism rs2275596 -
EYA2 O00167 VAR_048965 p.Thr238Ala Polymorphism rs866936 -
EYA4 O95677 VAR_022932 p.Gly277Ser Polymorphism rs9493627 -
EYA4 O95677 VAR_036248 p.Leu152Arg Unclassified - A colorectal cancer sample
EYA4 O95677 VAR_036249 p.Asp301Asn Unclassified - A colorectal cancer sample
EYS Q5T1H1 VAR_035301 p.Thr120Met Polymorphism rs12193967 -
EYS Q5T1H1 VAR_043561 p.Leu852Pro Polymorphism rs9294631 -
EYS Q5T1H1 VAR_063437 p.Pro94Gln Polymorphism - -
EYS Q5T1H1 VAR_063438 p.Val112Ile Polymorphism - -
EYS Q5T1H1 VAR_063439 p.Thr135Leu Unclassified - -
EYS Q5T1H1 VAR_063440 p.Val136Phe Polymorphism - -
EYS Q5T1H1 VAR_063441 p.Ser326Asn Polymorphism - -
EYS Q5T1H1 VAR_063442 p.Lys532Asn Polymorphism - -
EYS Q5T1H1 VAR_063443 p.Arg551Leu Polymorphism - -
EYS Q5T1H1 VAR_063444 p.Gln571Arg Polymorphism - -
EYS Q5T1H1 VAR_063445 p.Gly618Ser Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_063446 p.Gly631Ser Polymorphism - -
EYS Q5T1H1 VAR_063447 p.Glu641Val Polymorphism - -
EYS Q5T1H1 VAR_063448 p.Asn745Ser Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_063449 p.Val834Ile Polymorphism - -
EYS Q5T1H1 VAR_063450 p.Lys938Arg Polymorphism - -
EYS Q5T1H1 VAR_063451 p.Thr1110Ser Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_063452 p.Asn1163Lys Polymorphism - -
EYS Q5T1H1 VAR_063453 p.Cys1176Arg Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_063454 p.Ile1232Phe Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_063455 p.Ile1263Val Polymorphism - -
EYS Q5T1H1 VAR_063456 p.Gln1325Glu Polymorphism - -
EYS Q5T1H1 VAR_063457 p.Ile1361Val Polymorphism - -
EYS Q5T1H1 VAR_063458 p.Lys1365Glu Polymorphism - -
EYS Q5T1H1 VAR_063459 p.Leu1419Ser Polymorphism - -
EYS Q5T1H1 VAR_063460 p.Ile1451Thr Polymorphism - -
EYS Q5T1H1 VAR_063461 p.Arg1515Trp Polymorphism - -
EYS Q5T1H1 VAR_063462 p.Ser1517Gly Polymorphism - -
EYS Q5T1H1 VAR_063463 p.Asp1662Val Polymorphism - -
EYS Q5T1H1 VAR_063464 p.Thr1664Ile Polymorphism - -
EYS Q5T1H1 VAR_063465 p.Asp1682Tyr Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_063466 p.Pro1739Leu Polymorphism - -
EYS Q5T1H1 VAR_063467 p.Glu1747Gly Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_063468 p.Leu1748Phe Polymorphism - -
EYS Q5T1H1 VAR_063469 p.Trp1837Ser Polymorphism - -
EYS Q5T1H1 VAR_063470 p.Leu1869Met Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_063471 p.Leu1873Val Polymorphism - -
EYS Q5T1H1 VAR_063472 p.Asn1902Ile Polymorphism - -
EYS Q5T1H1 VAR_063473 p.Ser1915Gly Polymorphism - -
EYS Q5T1H1 VAR_063474 p.Thr1987Pro Polymorphism - -
EYS Q5T1H1 VAR_063475 p.Thr1993Ala Polymorphism - -
EYS Q5T1H1 VAR_063476 p.Ile1999Val Polymorphism - -
EYS Q5T1H1 VAR_063477 p.Val2040Asp Polymorphism - -
EYS Q5T1H1 VAR_063478 p.Cys2139Tyr Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_063479 p.Asn2151Ser Polymorphism - -
EYS Q5T1H1 VAR_063480 p.Leu2189Pro Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_063481 p.Ser2211Leu Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_063482 p.Arg2326Gln Polymorphism - -
EYS Q5T1H1 VAR_063483 p.Ser2556Cys Polymorphism - -
EYS Q5T1H1 VAR_063484 p.His2599Arg Polymorphism - -
EYS Q5T1H1 VAR_063485 p.Ala2757Pro Polymorphism - -
EYS Q5T1H1 VAR_063486 p.Ala2829Thr Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_063487 p.Thr2831Ile Polymorphism - -
EYS Q5T1H1 VAR_063488 p.Cys2911Tyr Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_063489 p.Gly2928Glu Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_064417 p.Trp1484Arg Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_064418 p.Gly2017Val Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_064419 p.Glu2503Lys Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EYS Q5T1H1 VAR_064420 p.Gln2945Glu Disease - Retinitis pigmentosa type 25 (RP25) [MIM:602772]
EZH2 Q15910 VAR_055795 p.Asp185His Polymorphism rs2302427 -
EZR P15311 VAR_015112 p.Leu532Val Polymorphism - -
EZR P15311 VAR_030572 p.Arg180Cys Polymorphism rs3103004 -
EZR P15311 VAR_030573 p.Ala494Pro Polymorphism rs2230143 -
F10 P00742 VAR_014162 p.Leu7Ile Polymorphism rs5963 -
F10 P00742 VAR_014163 p.Gln30His Polymorphism rs5961 -
F10 P00742 VAR_020176 p.Ala152Thr Polymorphism rs3211772 -
F10 P00742 VAR_020177 p.Gly192Arg Polymorphism rs3211783 -
F10 P00742 VAR_065428 p.Glu47Gly Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065429 p.Gly51Val Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065430 p.Glu54Gly Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065431 p.Glu54Lys Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065432 p.Glu72Gln Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065433 p.Glu91Lys Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065434 p.Glu142Lys Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065435 p.Cys149Tyr Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065436 p.Cys151Tyr Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065437 p.Gly289Arg Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065438 p.Glu304Lys Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065439 p.Asp322Asn Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065440 p.Arg327Trp Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065441 p.Val338Met Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065442 p.Glu350Lys Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065443 p.Thr358Met Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065444 p.Gly363Ser Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065445 p.Arg366Cys Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065446 p.Ser374Pro Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065447 p.Pro383Ser Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065448 p.Cys390Phe Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065449 p.Cys404Arg Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065450 p.Gly406Ser Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065451 p.Gly420Arg Disease - Factor X deficiency (FA10D) [MIM:227600]
F10 P00742 VAR_065452 p.Lys448Asn Disease - Factor X deficiency (FA10D) [MIM:227600]
F11 P03951 VAR_006622 p.Phe301Leu Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_011774 p.Pro66Leu Polymorphism rs5968 -
F11 P03951 VAR_011775 p.Gln244Arg Disease rs5969 Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_011776 p.Ile308Phe Polymorphism rs5972 -
F11 P03951 VAR_011777 p.Cys339Phe Polymorphism rs5967 -
F11 P03951 VAR_011778 p.Trp399Arg Polymorphism rs1800439 -
F11 P03951 VAR_012085 p.Asp34His Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_012086 p.Trp246Cys Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_012087 p.Ser266Asn Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_012088 p.Leu320Pro Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_012089 p.Thr322Ile Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_012090 p.Arg326Cys Disease rs28934608 Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_012091 p.Glu341Lys Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_012092 p.Thr404Asn Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_012093 p.Ala430Val Disease rs28934901 Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_012094 p.Phe460Val Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_012095 p.Thr493Ile Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_012096 p.Ser594Arg Disease rs28934609 Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_054894 p.Cys46Phe Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_054895 p.Cys56Arg Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_054896 p.Lys101Arg Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_054897 p.Tyr151Cys Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_054898 p.Cys255Tyr Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_054899 p.Gly263Glu Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_054900 p.Lys270Ile Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_054901 p.Gly418Val Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_054902 p.Tyr511His Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_054903 p.Pro538Leu Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_054904 p.Glu565Lys Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_054905 p.Trp587Ser Disease - Factor XI deficiency (FA11D) [MIM:612416]
F11 P03951 VAR_054906 p.Ile618Ser Disease - Factor XI deficiency (FA11D) [MIM:612416]
F12 P00748 VAR_006623 p.Arg372Pro Disease - Factor XII deficiency (FA12D) [MIM:234000]
F12 P00748 VAR_006624 p.Cys590Ser Disease - Factor XII deficiency (FA12D) [MIM:234000]
F12 P00748 VAR_014336 p.Ala207Pro Polymorphism rs17876030 -
F12 P00748 VAR_014337 p.Gly545Asp Polymorphism rs17876034 -
F12 P00748 VAR_014338 p.Tyr605His Polymorphism rs17876035 -
F12 P00748 VAR_014426 p.Tyr53Cys Disease - Factor XII deficiency (FA12D) [MIM:234000]
F12 P00748 VAR_029191 p.Pro342Gln Polymorphism rs2230939 -
F12 P00748 VAR_031500 p.Arg142Pro Disease - Factor XII deficiency (FA12D) [MIM:234000]
F12 P00748 VAR_031501 p.Thr328Lys Disease - Hereditary angioedema type 3 (HAE3) [MIM:610618]
F12 P00748 VAR_031502 p.Thr328Arg Disease - Hereditary angioedema type 3 (HAE3) [MIM:610618]
F12 P00748 VAR_031503 p.Ala411Thr Disease - Factor XII deficiency (FA12D) [MIM:234000]
F12 P00748 VAR_031504 p.Leu414Met Disease - Factor XII deficiency (FA12D) [MIM:234000]
F12 P00748 VAR_031505 p.Arg417Gln Disease - Factor XII deficiency (FA12D) [MIM:234000]
F12 P00748 VAR_031506 p.Gln440Lys Disease - Factor XII deficiency (FA12D) [MIM:234000]
F12 P00748 VAR_031507 p.Asp461Asn Disease - Factor XII deficiency (FA12D) [MIM:234000]
F12 P00748 VAR_031508 p.Trp505Cys Disease - Factor XII deficiency (FA12D) [MIM:234000]
F12 P00748 VAR_031509 p.Gly589Arg Disease - Factor XII deficiency (FA12D) [MIM:234000]
F12 P00748 VAR_033649 p.Ala340Gly Polymorphism rs2230938 -
F13A1 P00488 VAR_007471 p.Pro565Leu Polymorphism rs5982 -
F13A1 P00488 VAR_007472 p.Val651Ile Polymorphism rs5987 -
F13A1 P00488 VAR_007473 p.Gln652Glu Polymorphism rs5988 -
F13A1 P00488 VAR_007474 p.Arg682His Disease - Factor XIII subunit A deficiency (FA13AD) [MIM:613225]
F13A1 P00488 VAR_013927 p.Val35Leu Polymorphism rs5985 -
F13A1 P00488 VAR_013928 p.Thr551Ile Polymorphism rs5984 -
F13A1 P00488 VAR_013929 p.Leu589Gln Polymorphism rs5983 -
F13A1 P00488 VAR_020910 p.Val40Ile Polymorphism - -
F13A1 P00488 VAR_020911 p.Tyr205Phe Polymorphism rs3024477 -
F13A1 P00488 VAR_057350 p.Met351Lys Polymorphism rs2230848 -
F13A1 P00488 VAR_060545 p.Thr650Ile Polymorphism rs17852475 -
F13B P05160 VAR_007475 p.Cys450Phe Disease - Factor XIII subunit B deficiency (FA13BD) [MIM:613235]
F13B P05160 VAR_013930 p.Met49Val Polymorphism rs6002 -
F13B P05160 VAR_013931 p.Arg115His Polymorphism rs6003 -
F13B P05160 VAR_013932 p.His350Arg Polymorphism rs5999 -
F13B P05160 VAR_013933 p.Glu388Val Polymorphism rs5991 -
F13B P05160 VAR_013934 p.Tyr543Ser Polymorphism rs6001 -
F13B P05160 VAR_013935 p.Asp569Glu Polymorphism rs6000 -
F13B P05160 VAR_020612 p.Ile342Thr Polymorphism rs17514281 -
F13B P05160 VAR_020613 p.Leu529Pro Polymorphism rs17549671 -
F2 P00734 VAR_006711 p.Glu200Lys Disease - Factor II deficiency (FA2D) [MIM:613679]
F2 P00734 VAR_006712 p.Arg314Cys Disease - Factor II deficiency (FA2D) [MIM:613679]
F2 P00734 VAR_006713 p.Arg314His Disease - Factor II deficiency (FA2D) [MIM:613679]
F2 P00734 VAR_006714 p.Met380Thr Disease - Factor II deficiency (FA2D) [MIM:613679]
F2 P00734 VAR_006715 p.Arg425Cys Disease - Factor II deficiency (FA2D) [MIM:613679]
F2 P00734 VAR_006716 p.Arg431His Disease - Factor II deficiency (FA2D) [MIM:613679]
F2 P00734 VAR_006717 p.Arg461Trp Disease - Factor II deficiency (FA2D) [MIM:613679]
F2 P00734 VAR_006718 p.Glu509Ala Disease - Factor II deficiency (FA2D) [MIM:613679]
F2 P00734 VAR_006719 p.Gly601Val Disease - Factor II deficiency (FA2D) [MIM:613679]
F2 P00734 VAR_011781 p.Thr165Met Polymorphism rs5896 -
F2 P00734 VAR_011782 p.Pro386Thr Polymorphism rs5897 -
F2 P00734 VAR_055232 p.Glu72Gly Disease - Factor II deficiency (FA2D) [MIM:613679]
F2R P25116 VAR_014167 p.Ser166Gly Polymorphism rs5893 -
F2R P25116 VAR_049432 p.Tyr187Asn Polymorphism rs2230849 -
F2R P25116 VAR_049433 p.Val257Leu Polymorphism rs2227832 -
F2R P25116 VAR_049434 p.Ser412Tyr Polymorphism rs2227799 -
F2R P25116 VAR_060680 p.Ala268Pro Polymorphism rs1055103 -
F2R P25116 VAR_060681 p.Ala335Val Polymorphism rs17849599 -
F2RL1 P55085 VAR_012846 p.Ser21Phe Polymorphism rs2243072 -
F2RL1 P55085 VAR_012847 p.Arg270Gln Polymorphism rs2243062 -
F2RL1 P55085 VAR_012848 p.Thr291Ala Polymorphism rs2243083 -
F2RL1 P55085 VAR_049435 p.Asn30Ser Polymorphism rs616235 -
F2RL2 O00254 VAR_012849 p.Leu15Ser Polymorphism rs2069649 -
F2RL2 O00254 VAR_012850 p.Met177Val Polymorphism rs2069700 -
F2RL2 O00254 VAR_012851 p.Asn250Asp Polymorphism rs2069683 -
F2RL3 Q96RI0 VAR_012852 p.Phe296Val Polymorphism rs2227346 -
F2RL3 Q96RI0 VAR_012853 p.Pro310Leu Polymorphism rs2227376 -
F2RL3 Q96RI0 VAR_028300 p.Ala120Thr Polymorphism rs773902 -
F2RL3 Q96RI0 VAR_028301 p.Arg215Gln Polymorphism rs2230799 -
F3 P13726 VAR_012008 p.Arg163Trp Polymorphism rs5901 -
F3 P13726 VAR_014298 p.Thr36Ala Polymorphism rs3917604 -
F3 P13726 VAR_014299 p.Ile145Val Polymorphism rs3917627 -
F3 P13726 VAR_052280 p.Gly281Glu Polymorphism rs3789683 -
F5 P12259 VAR_001213 p.Arg534Gln Polymorphism rs6025 -
F5 P12259 VAR_001214 p.Lys858Arg Polymorphism rs4524 -
F5 P12259 VAR_001215 p.His865Arg Polymorphism rs4525 -
F5 P12259 VAR_013620 p.Arg334Gly Unclassified - -
F5 P12259 VAR_013621 p.Arg334Thr Disease - Thrombophilia due to activated protein C resistance (THR-APCR) [MIM:188055]
F5 P12259 VAR_013622 p.Arg513Lys Polymorphism rs6020 -
F5 P12259 VAR_013886 p.Asp107His Polymorphism rs6019 -
F5 P12259 VAR_013887 p.Met413Thr Polymorphism rs6033 -
F5 P12259 VAR_013888 p.Pro809Ser Polymorphism rs6031 -
F5 P12259 VAR_013889 p.Asn817Thr Polymorphism rs6018 -
F5 P12259 VAR_013890 p.Lys925Glu Polymorphism rs6032 -
F5 P12259 VAR_013891 p.His1146Gln Polymorphism rs6005 -
F5 P12259 VAR_013892 p.Leu1285Ile Polymorphism rs1046712 -
F5 P12259 VAR_013893 p.His1327Arg Polymorphism rs1800595 -
F5 P12259 VAR_013894 p.Glu1530Ala Polymorphism rs6007 -
F5 P12259 VAR_013895 p.Thr1685Ser Polymorphism rs6011 -
F5 P12259 VAR_013896 p.Leu1749Val Polymorphism rs6034 -
F5 P12259 VAR_013897 p.Met1764Val Polymorphism rs6030 -
F5 P12259 VAR_013898 p.Met1820Ile Polymorphism rs6026 -
F5 P12259 VAR_013899 p.Asp2222Gly Polymorphism rs6027 -
F5 P12259 VAR_017329 p.Arg2102His Disease - Thrombophilia due to activated protein C resistance (THR-APCR) [MIM:188055]
F5 P12259 VAR_021297 p.Gly15Ser Polymorphism rs9332485 -
F5 P12259 VAR_021298 p.Thr915Ser Polymorphism rs9332695 -
F5 P12259 VAR_021299 p.Asn969Ser Polymorphism rs9332604 -
F5 P12259 VAR_021300 p.Arg980Leu Polymorphism rs9332605 -
F5 P12259 VAR_021301 p.Pro1404Ser Polymorphism rs9332608 -
F5 P12259 VAR_021302 p.Met2148Thr Polymorphism rs9332701 -
F5 P12259 VAR_032698 p.Ile387Thr Disease - Thrombophilia due to activated protein C resistance (THR-APCR) [MIM:188055]
F5 P12259 VAR_032699 p.Cys613Arg Disease - Thrombophilia due to activated protein C resistance (THR-APCR) [MIM:188055]
F5 P12259 VAR_032700 p.Tyr1730Cys Disease - Factor V deficiency (FA5D) [MIM:227400]
F5 P12259 VAR_032701 p.Arg2102Cys Disease - Factor V deficiency (FA5D) [MIM:227400]
F5 P12259 VAR_034603 p.Lys2185Arg Polymorphism rs6679078 -
F5 P12259 VAR_035817 p.Ser775Ala Unclassified - A colorectal cancer sample
F5 P12259 VAR_047740 p.Ser781Arg Polymorphism rs13306350 -
F5 P12259 VAR_047741 p.Leu1397Phe Polymorphism rs13306334 -
F7 P08709 VAR_006497 p.Arg139Lys Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006498 p.Arg139Gln Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006499 p.Arg139Trp Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006500 p.Gly157Ser Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006501 p.Gly157Cys Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006502 p.Gln160Arg Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006503 p.Pro194Thr Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006504 p.Lys197Glu Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006505 p.Arg212Gln Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006506 p.Cys238Tyr Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006507 p.Arg283Trp Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006508 p.Ala304Val Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006509 p.Arg307His Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006510 p.Glu325Lys Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006511 p.Ala354Val Disease rs36209567 Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006512 p.Met358Ile Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006513 p.Met358Val Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006514 p.Arg364Gln Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006515 p.Cys370Phe Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006516 p.Gly402Arg Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006517 p.Gly402Glu Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_006518 p.Arg413Gln Polymorphism rs6046 -
F7 P08709 VAR_006519 p.Thr419Met Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_013122 p.Ala352Thr Polymorphism rs3093267 -
F7 P08709 VAR_013123 p.Glu445Lys Polymorphism rs3093248 -
F7 P08709 VAR_013936 p.Val295Asp Polymorphism rs6045 -
F7 P08709 VAR_014391 p.Leu13Pro Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014392 p.Cys389Gly Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014405 p.Leu73Gln Disease rs45572939 Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014406 p.Glu79Gln Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014407 p.Cys121Phe Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014408 p.Leu125Pro Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014409 p.Tyr128Cys Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014410 p.Cys151Ser Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014411 p.Gly157Val Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014412 p.Cys195Arg Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014413 p.Thr241Asn Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014414 p.Asp302His Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014415 p.Asp302Asn Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014416 p.Ala304Thr Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014417 p.Arg307Cys Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014418 p.Thr332Met Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014419 p.Gly391Ser Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_014420 p.Gly435Glu Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_015135 p.Phe64Leu Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_015136 p.Ser120Pro Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_015137 p.Glu154Lys Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_015138 p.Gly216Asp Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_015139 p.Cys254Tyr Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_015140 p.Ala266Thr Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_015141 p.Val312Met Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_015142 p.Val341Phe Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_015143 p.Pro363Arg Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_015144 p.Asp403His Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_018671 p.Thr367Ser Polymorphism - -
F7 P08709 VAR_065370 p.Cys82Phe Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065371 p.Cys82Arg Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065373 p.Glu85Lys Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065374 p.Arg88Gly Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065375 p.Arg88Pro Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065376 p.Asn117Asp Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065377 p.Gly138Asp Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065378 p.Gly156Ser Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065379 p.Ser171Phe Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065380 p.Gly177Arg Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065381 p.Leu181Pro Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065382 p.Asp183Asn Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065383 p.Ser186Phe Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065384 p.Pro189Ser Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065385 p.Pro194Leu Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065386 p.Ile198Thr Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065387 p.Gly240Arg Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065388 p.Ser250Phe Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065389 p.Ala251Pro Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065390 p.Ala251Thr Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065391 p.Cys254Arg Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065392 p.Leu264Pro Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065393 p.Asp272Asn Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065394 p.Asp277Asn Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065395 p.Thr298Ile Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065396 p.His301Gln Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065397 p.Leu314Val Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065398 p.Leu321Phe Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065399 p.Leu323Arg Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065400 p.Arg326Gln Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065401 p.Arg337Cys Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065402 p.Gly343Ser Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065403 p.Trp344Arg Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065404 p.Gly345Ser Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065405 p.Arg350Cys Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065406 p.Leu360Pro Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065407 p.Pro363His Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065408 p.Arg364Trp Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065409 p.Arg375Trp Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065410 p.Thr384Met Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065411 p.Met387Thr Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065412 p.Met387Val Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065413 p.Phe388Ser Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065414 p.Gly391Cys Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065415 p.Asp398Glu Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065416 p.Lys401Glu Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065417 p.Ser404Asn Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065418 p.His408Gln Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065419 p.His408Arg Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065420 p.Arg413Gly Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065421 p.Gly414Cys Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065422 p.Val422Phe Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065423 p.Gly425Ala Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065424 p.Gly425Cys Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065425 p.Ala429Thr Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065426 p.Gly432Asp Disease - Factor VII deficiency (FA7D) [MIM:227500]
F7 P08709 VAR_065427 p.Tyr437Phe Disease - Factor VII deficiency (FA7D) [MIM:227500]
F8 P00451 VAR_001045 p.Leu26Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001046 p.Glu30Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001047 p.Gly41Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001048 p.Arg48Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001049 p.Asp75Val Polymorphism rs1800288 -
F8 P00451 VAR_001050 p.Gly89Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001051 p.Gly89Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001052 p.Val99Asp Disease rs28935205 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001053 p.Val104Asp Disease rs28935206 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001054 p.Lys108Thr Disease rs28935207 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001055 p.Met110Val Disease rs28936083 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001056 p.Leu117Arg Disease rs28935208 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001057 p.Glu129Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001058 p.Gly130Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001059 p.Glu132Asp Disease rs28935209 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001060 p.Tyr133Cys Disease rs28935210 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001061 p.Asp135Gly Disease rs28935211 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001062 p.Thr137Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001063 p.Gly164Val Disease rs28935212 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001064 p.Pro165Ser Disease rs28935213 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001065 p.Val181Met Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001066 p.Lys185Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001067 p.Ser189Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001068 p.Asp222Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001069 p.Gly224Trp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001070 p.Val253Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001071 p.Gly266Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001072 p.Gly278Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001073 p.Val285Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001074 p.Glu291Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001075 p.Thr294Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001076 p.Asn299Ile Disease rs28935215 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001077 p.Arg301His Disease rs28935216 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001078 p.Arg301Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001079 p.Ser308Leu Disease rs28937268 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001080 p.Phe312Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001081 p.Thr314Ala Disease rs28937269 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001082 p.Thr314Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001083 p.Leu327Pro Disease rs28937270 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001084 p.Ile331Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001085 p.Val345Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001086 p.Cys348Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001087 p.Cys348Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001088 p.Cys348Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001089 p.Arg391Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001090 p.Arg391His Disease rs28935499 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001091 p.Arg391Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001092 p.Ser392Leu Disease rs28933668 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001093 p.Ser392Pro Disease rs28933669 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001094 p.Ile405Ser Disease rs28933670 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001095 p.Glu409Gly Disease rs28933671 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001096 p.Leu431Phe Disease rs28933672 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001097 p.Gly439Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001098 p.Lys444Arg Disease rs28937272 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001099 p.Tyr450Asn Disease rs28937273 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001100 p.Gly474Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001101 p.Ala488Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001102 p.Tyr492His Disease rs28937274 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001103 p.Tyr492Cys Disease rs28937275 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001104 p.Ile494Thr Disease rs28936968 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001105 p.Gly498Arg Disease rs28936969 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001106 p.Asp544Asn Disease rs28937276 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001107 p.Arg546Trp Disease rs28937277 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001108 p.Arg550Cys Disease rs28937278 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001109 p.Arg550Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001110 p.Arg550His Disease rs28937279 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001111 p.Ser554Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001112 p.Val556Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001113 p.Ser577Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001114 p.Gln584Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001115 p.Ile585Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001116 p.Ser596Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001117 p.Ser603Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001118 p.Trp604Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001119 p.Tyr605Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001120 p.Arg612Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001121 p.Asn631Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001122 p.Asn631Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001123 p.Leu644Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001124 p.Val653Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001125 p.Val653Met Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001126 p.Ala663Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001128 p.Phe677Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001129 p.Met699Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001130 p.Arg717Trp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001131 p.Gly720Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001132 p.Ala723Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001133 p.Val727Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001134 p.Glu739Lys Disease rs28937285 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001135 p.Glu1057Lys Disease rs28933673 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001136 p.Asp1260Glu Polymorphism rs1800291 -
F8 P00451 VAR_001137 p.Leu1481Pro Polymorphism rs1800294 -
F8 P00451 VAR_001138 p.Tyr1699Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001139 p.Tyr1699Phe Disease rs28935203 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001140 p.Arg1708Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001141 p.Arg1708His Disease rs28937286 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001142 p.Arg1715Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001143 p.Glu1723Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001144 p.Tyr1728Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001145 p.Gly1769Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001146 p.Leu1775Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001147 p.Leu1775Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001148 p.Gly1779Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001149 p.Met1791Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001150 p.Arg1800His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001151 p.Arg1800Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001152 p.Arg1800Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001153 p.Ser1803Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001154 p.Leu1808Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001155 p.Met1842Ile Disease rs28933674 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001156 p.Pro1844Ser Disease rs28933675 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001157 p.Thr1845Pro Disease rs28933676 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001158 p.Ala1853Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001159 p.Ala1853Val Disease rs28933677 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001160 p.Asp1865Asn Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001161 p.Asp1865Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001162 p.His1867Arg Disease rs28933679 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001163 p.Gly1869Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001164 p.Pro1873Arg Disease rs28933680 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001165 p.Arg1888Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001166 p.Glu1894Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001167 p.Glu1904Lys Disease rs28933681 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001168 p.Asn1941Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001169 p.Asn1941Ser Disease rs28933682 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001170 p.Arg1960Gln Disease rs28937294 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001171 p.Arg1960Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001172 p.Gly1967Asp Disease rs28937295 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001173 p.Gly1979Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001174 p.His1980Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001175 p.Arg2016Trp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001176 p.Asn2038Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001177 p.Trp2065Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001178 p.Ser2088Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001179 p.Asp2093Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001180 p.Thr2105Asn Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001181 p.Gly2107Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001182 p.Phe2120Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001183 p.Tyr2124Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001184 p.Arg2135Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001185 p.Ser2138Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001186 p.Asn2148Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001187 p.Arg2169His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001188 p.Pro2172Gln Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001189 p.Thr2173Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001190 p.Arg2178Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001191 p.Arg2178His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001192 p.Arg2178Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001193 p.Arg2182Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001194 p.Arg2182His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001195 p.Met2183Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001196 p.Leu2185Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001197 p.Ile2204Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001198 p.Ile2209Asn Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001199 p.Ala2211Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001201 p.Arg2228Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001202 p.Arg2228Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001203 p.Arg2228Gln Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001204 p.Val2242Met Polymorphism - -
F8 P00451 VAR_001205 p.Trp2248Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001206 p.Gln2265Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001207 p.Pro2319Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001208 p.Pro2319Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001209 p.Arg2323Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001210 p.Arg2323His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001211 p.Arg2326Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_001212 p.Arg2326Gln Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_008123 p.Ser202Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_008967 p.Asp561Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_008968 p.Gly2344Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_015127 p.Gly255Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_015128 p.Gly323Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_015129 p.Met586Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_015130 p.Gly1942Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_015131 p.Leu1963Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_015132 p.Tyr2036Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_015133 p.Pro2172Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_015134 p.Asp2307Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_017330 p.Glu72Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_017331 p.Ala97Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_017332 p.Tyr155His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_017333 p.Val181Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_017334 p.Asn254Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_017335 p.Gly439Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_017336 p.Lys529Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_017337 p.Ile567Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_017338 p.Phe1804Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_017339 p.Ile2051Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_017340 p.Thr2141Asn Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_017341 p.Cys2193Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_021356 p.Met2257Val Disease rs1800297 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_024380 p.Arg795Gly Polymorphism rs2228152 -
F8 P00451 VAR_028447 p.Ser19Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028448 p.Arg22Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028449 p.Tyr24Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028450 p.Tyr25Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028451 p.Leu26Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028452 p.Trp33Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028453 p.Tyr35Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028454 p.Tyr35His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028455 p.Arg48Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028456 p.Lys67Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028457 p.Lys67Asn Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028458 p.Leu69Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028459 p.Asp75Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028460 p.Asp75Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028463 p.Gly92Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028464 p.Gly92Val Disease rs28935204 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028465 p.Glu98Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028466 p.Asp101Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028467 p.Asp101His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028468 p.Asp101Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028469 p.Ala111Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028470 p.Ala111Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028471 p.His113Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028472 p.His113Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028473 p.Leu117Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028474 p.Gly121Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028475 p.Asp135Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028476 p.Thr137Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028477 p.Ser138Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028478 p.Glu141Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028479 p.Asp145His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028480 p.Val147Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028481 p.Val159Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028482 p.Asn163Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028483 p.Gly164Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028484 p.Cys172Trp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028485 p.Ser176Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028486 p.Ser179Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028487 p.Asp186Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028488 p.Asp186Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028489 p.Gly193Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028490 p.Cys198Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028491 p.Ser202Asn Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028492 p.Phe214Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028493 p.Leu217His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028494 p.Ala219Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028495 p.Ala219Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028496 p.Val220Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028497 p.Glu223Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028498 p.Thr252Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028499 p.Pro262Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028500 p.Gly263Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028501 p.Cys267Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028502 p.Trp274Cys Disease rs34371500 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028503 p.His275Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028504 p.Glu284Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028505 p.Glu291Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028506 p.Phe295Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028507 p.Val297Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028508 p.Arg301Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028510 p.Ala303Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028511 p.Ala303Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028512 p.Ile307Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028513 p.Ala315Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028515 p.Leu326Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028516 p.Leu327Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028517 p.Cys329Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028518 p.Met339Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028519 p.Glu340Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028520 p.Val345Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028521 p.Tyr365Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028522 p.Trp401Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028523 p.Ile405Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028524 p.Trp412Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028525 p.Trp412Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028526 p.Lys427Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028527 p.Leu431Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028528 p.Arg437Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028529 p.Arg437Trp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028530 p.Ile438Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028531 p.Gly439Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028532 p.Tyr442Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028533 p.Tyr450Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028534 p.Thr454Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028535 p.Phe455Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028536 p.Gly466Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028537 p.Pro470Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028538 p.Pro470Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028539 p.Pro470Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028540 p.Gly474Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028541 p.Glu475Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028542 p.Gly477Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028543 p.Asp478Asn Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028544 p.Thr479Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028545 p.Phe484Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028546 p.Arg490Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028547 p.Arg503His Disease rs35383156 Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028548 p.Gly513Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028549 p.Ile522Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028550 p.Trp532Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028551 p.Pro540Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028552 p.Thr541Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028553 p.Ser553Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028554 p.Ser554Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028555 p.Arg560Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028556 p.Asp561Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028557 p.Asp561His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028558 p.Val578Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028559 p.Asp579Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028560 p.Asp579His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028561 p.Asn583Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028562 p.Gln584His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028563 p.Gln584Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028564 p.Ile585Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028565 p.Asp588Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028566 p.Asp588Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028567 p.Leu594Gln Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028568 p.Asn601Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028569 p.Asn601Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028570 p.Arg602Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028571 p.Ser603Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028572 p.Tyr605His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028573 p.Asn609Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028574 p.Met633Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028575 p.Ser635Asn Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028576 p.Asn637Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028577 p.Asn637Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028578 p.Tyr639Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028579 p.Leu650Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028580 p.Leu659Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028581 p.Gln664Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028582 p.Met681Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028583 p.Val682Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028584 p.Tyr683Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028585 p.Tyr683Asn Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028586 p.Thr686Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028587 p.Phe698Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028588 p.Met699Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028589 p.Met701Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028590 p.Gly705Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028591 p.Gly710Trp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028592 p.Asn713Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028593 p.Arg717Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028594 p.Gly720Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028595 p.Met721Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028596 p.Met721Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028597 p.Leu725Gln Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028598 p.Tyr742Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028599 p.Pro947Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028600 p.Val1012Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028601 p.His1066Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028602 p.Gln1336Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028603 p.Asn1460Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028604 p.Ala1610Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028605 p.Ile1698Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028606 p.Glu1701Lys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028607 p.Gln1705His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028608 p.Thr1714Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028609 p.Asp1727Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028610 p.Arg1740Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028611 p.Lys1751Gln Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028612 p.Arg1768His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028613 p.Leu1771Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028614 p.Leu1777Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028615 p.Gly1779Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028616 p.Pro1780Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028617 p.Ile1782Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028618 p.Asp1788His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028619 p.Ala1798Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028620 p.Ser1799His Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028621 p.Pro1801Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028622 p.Tyr1802Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028623 p.Glu1848Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028624 p.Ser1858Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028625 p.Lys1864Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028626 p.His1867Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028627 p.Gly1869Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028628 p.Gly1872Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028629 p.Leu1875Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028630 p.Val1876Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028631 p.Cys1877Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028632 p.Leu1882Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028633 p.Ile1901Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028634 p.Glu1904Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028635 p.Ser1907Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028636 p.Ser1907Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028637 p.Trp1908Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028638 p.Tyr1909Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028639 p.Ala1939Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028640 p.Ala1939Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028641 p.Met1945Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028642 p.Leu1951Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028643 p.Ser1965Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028644 p.Met1966Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028645 p.Met1966Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028646 p.Ser1968Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028647 p.Asn1971Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028648 p.His1973Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028649 p.His1980Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028650 p.Phe1982Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028651 p.Arg1985Gln Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028652 p.Leu1994Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028653 p.Tyr1998Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028654 p.Gly2000Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028655 p.Thr2004Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028656 p.Met2007Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028657 p.Trp2015Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028658 p.Arg2016Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028659 p.Glu2018Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028660 p.Gly2022Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028661 p.Gly2028Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028662 p.Ser2030Asn Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028663 p.Val2035Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028664 p.Cys2040Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028665 p.Gly2045Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028666 p.Gly2045Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028667 p.Ile2056Asn Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028668 p.Ala2058Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028669 p.Pro2067Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028670 p.Ala2070Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028671 p.Ser2082Asn Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028672 p.Asp2093Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028673 p.Gln2106Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028674 p.Gln2106Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028675 p.Arg2109Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028676 p.Ile2117Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028677 p.Ile2117Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028678 p.Gln2119Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028679 p.Phe2120Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028680 p.Phe2145Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028681 p.Asn2157Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028682 p.Pro2162Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028683 p.Arg2169Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028684 p.Thr2173Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028685 p.His2174Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028686 p.Arg2182Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028687 p.Met2183Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028688 p.Leu2185Trp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028689 p.Ser2192Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028690 p.Pro2196Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028691 p.Gly2198Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028692 p.Glu2200Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028693 p.Ala2220Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028695 p.Pro2224Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028696 p.Arg2228Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028697 p.Leu2229Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028698 p.Trp2248Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028699 p.Val2251Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028700 p.Val2251Glu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028701 p.Thr2264Ala Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028702 p.Phe2279Cys Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028703 p.Phe2279Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028704 p.Ile2281Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028705 p.Trp2290Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028706 p.Gly2304Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028707 p.Arg2323Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028708 p.Arg2323Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028709 p.Arg2326Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028710 p.Arg2326Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028711 p.Gln2330Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028712 p.Trp2332Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028713 p.Arg2339Thr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028714 p.Gly2344Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028715 p.Cys2345Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_028716 p.Cys2345Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_048438 p.Lys1289Gln Polymorphism rs1800292 -
F8 P00451 VAR_065303 p.Pro83Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065304 p.Asp186Asn Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065305 p.Leu191Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065306 p.Leu195Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065307 p.Leu261Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065308 p.Gly280Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065309 p.Ala394Ser Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065310 p.Gly474Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065311 p.Pro496Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065312 p.Gly513Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065313 p.Pro569Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065314 p.Asn637Ile Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065315 p.Ala1720Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065316 p.Phe1762Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065317 p.Cys1877Tyr Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065318 p.Gly2013Arg Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065319 p.His2101Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065320 p.Gln2106Pro Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065321 p.Met2143Val Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065322 p.Pro2172Leu Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065323 p.Asp2286Gly Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065324 p.Ile2336Phe Disease - Hemophilia A (HEMA) [MIM:306700]
F8 P00451 VAR_065325 p.Gly2344Asp Disease - Hemophilia A (HEMA) [MIM:306700]
F9 P00740 VAR_006520 p.Ile7Phe Polymorphism - -
F9 P00740 VAR_006521 p.Ile17Asn Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006522 p.Cys28Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006523 p.Val30Ile Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006524 p.Arg43Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006525 p.Arg43Leu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006526 p.Arg43Trp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006527 p.Lys45Asn Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006528 p.Arg46Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006529 p.Arg46Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006530 p.Asn48Ile Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006531 p.Ser49Pro Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006532 p.Glu53Ala Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006533 p.Glu54Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006534 p.Phe55Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006535 p.Gly58Ala Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006536 p.Gly58Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006538 p.Glu66Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006539 p.Glu67Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006540 p.Phe71Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006541 p.Glu73Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006542 p.Glu73Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006543 p.Tyr91Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006544 p.Asp93Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006545 p.Gln96Pro Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006546 p.Cys97Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006547 p.Pro101Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006548 p.Cys102Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006549 p.Gly106Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006550 p.Cys108Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006551 p.Asp110Asn Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006552 p.Ile112Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006553 p.Asn113Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006554 p.Tyr115Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006555 p.Cys119Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006556 p.Cys119Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006557 p.Gly125Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006558 p.Gly125Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006560 p.Ile136Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006561 p.Gly139Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006562 p.Gly139Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006563 p.Cys155Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006564 p.Gly160Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006565 p.Gln167His Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006566 p.Cys178Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006567 p.Cys178Trp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006568 p.Arg191His Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006569 p.Arg191Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006570 p.Arg226Trp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006571 p.Arg226Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006572 p.Arg226Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006573 p.Val227Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006574 p.Val228Leu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006575 p.Gln241His Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006576 p.Gly253Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006577 p.Gly253Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006578 p.Ala265Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006579 p.Ala279Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006580 p.Asn283Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006582 p.Arg294Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006583 p.Arg294Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006584 p.His302Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006585 p.Ile316Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006586 p.Leu321Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006587 p.Pro333His Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006588 p.Thr342Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006589 p.Thr342Met Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006590 p.Gly351Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006591 p.Trp356Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006592 p.Gly357Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006593 p.Lys362Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006594 p.Gly363Trp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006595 p.Ala366Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006596 p.Arg379Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006597 p.Arg379Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006598 p.Cys382Tyr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006599 p.Lys387Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006600 p.Ile390Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006601 p.Met394Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006602 p.Cys396Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006603 p.Arg404Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006604 p.Cys407Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006605 p.Gly413Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006606 p.Val419Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006607 p.Phe424Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006608 p.Thr426Pro Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006609 p.Ser430Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006610 p.Trp431Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006611 p.Trp431Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006612 p.Gly432Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006613 p.Gly432Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006614 p.Glu433Ala Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006615 p.Glu433Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006616 p.Ala436Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006618 p.Arg449Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006619 p.Arg449Trp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006620 p.Tyr450Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_006621 p.Ile454Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_011773 p.Thr194Ala Polymorphism rs6048 -
F9 P00740 VAR_014308 p.Thr461Pro Polymorphism rs4149751 -
F9 P00740 VAR_017307 p.Ala37Thr Unclassified - -
F9 P00740 VAR_017308 p.Arg75Gln Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017309 p.Glu79Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017310 p.Val227Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017311 p.Val228Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017312 p.Cys252Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017313 p.Cys268Trp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017314 p.Glu291Val Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017315 p.Asn306Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017316 p.Gly357Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017317 p.Ala397Pro Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017318 p.Asp410His Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017319 p.Ser411Ile Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017320 p.Ser411Gly Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017321 p.Pro414Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017322 p.Gly442Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017323 p.Ile443Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017324 p.Trp453Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017343 p.Cys28Tyr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017344 p.Leu52Ser Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017345 p.Thr84Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017346 p.Gly106Asp Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017347 p.Glu124Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017348 p.Gly125Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017349 p.Cys134Tyr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017350 p.Ser169Cys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017351 p.Cys170Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017352 p.Gln241Lys Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017353 p.Cys252Tyr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017354 p.Leu318Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017355 p.Pro333Thr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017356 p.Ile344Leu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017357 p.Leu383Ile Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017358 p.Leu383Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017359 p.Phe395Ile Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017360 p.Phe395Leu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017361 p.Cys396Phe Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017362 p.Cys407Arg Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017363 p.Gly412Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017364 p.Cys435Tyr Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_017365 p.Gly442Glu Disease - Recessive X-linked hemophilia B (HEMB) [MIM:306900]
F9 P00740 VAR_062999 p.Arg384Leu Disease - Thrombophilia due to factor IX defect (THR-FIX) [MIM:300807]
FA2H Q7L5A8 VAR_037503 p.Pro97Ala Polymorphism rs35874850 -
FA2H Q7L5A8 VAR_054893 p.Asp35Tyr Disease - Spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319]
FA2H Q7L5A8 VAR_064621 p.Arg235Cys Disease - Spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319]
FA2H Q7L5A8 VAR_065245 p.Arg154Cys Disease - Spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319]
FAAH O00519 VAR_013563 p.Pro129Thr Polymorphism rs324420 -
FAAH O00519 VAR_035704 p.Ala345Asp Unclassified - A breast cancer sample
FAAP100 Q0VG06 VAR_032582 p.Pro660Leu Polymorphism rs11552304 -
FAAP100 Q0VG06 VAR_032583 p.Thr817Ala Polymorphism rs14422 -
FAAP24 Q9BTP7 VAR_029828 p.Ser158Leu Polymorphism rs2304103 -
FAAP24 Q9BTP7 VAR_029829 p.Ile192Thr Polymorphism rs3816032 -
FAAP24 Q9BTP7 VAR_050989 p.Ser126Phe Polymorphism rs36017455 -
FABP1 P07148 VAR_014662 p.Ala54Thr Polymorphism rs1801273 -
FABP1 P07148 VAR_022093 p.Thr94Ala Polymorphism rs2241883 -
FABP2 P12104 VAR_002379 p.Ala55Thr Polymorphism rs1799883 -
FABP3 P05413 VAR_061165 p.Lys53Arg Polymorphism rs2228194 -
FABP4 P15090 VAR_036320 p.Glu23Asp Unclassified - A breast cancer sample
FABP6 P51161 VAR_039578 p.Arg33His Polymorphism rs17856662 -
FABP6 P51161 VAR_039579 p.Ser55Tyr Polymorphism rs17852045 -
FABP6 P51161 VAR_039580 p.Thr79Met Polymorphism rs1130435 -
FABP7 O15540 VAR_049012 p.Thr61Met Polymorphism rs2279381 -
FADD Q13158 VAR_065124 p.Cys105Trp Disease - Infections recurrent associated with encephalopathy hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759]
FADS1 O60427 VAR_035340 p.Pro272Ser Polymorphism rs17856235 -
FADS3 Q9Y5Q0 VAR_035341 p.Lys192Asn Polymorphism rs35479241 -
FADS3 Q9Y5Q0 VAR_035342 p.Asn216Lys Polymorphism rs34511441 -
FAH P16930 VAR_005205 p.Asn16Ile Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005206 p.Phe62Cys Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005207 p.Gln64His Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005208 p.Ala134Asp Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005209 p.Gly158Asp Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005210 p.Val166Gly Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005211 p.Cys193Arg Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005212 p.Gly207Asp Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005213 p.Asp233Val Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005214 p.Trp234Gly Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005215 p.Pro249Thr Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005216 p.Pro261Leu Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005217 p.Thr294Pro Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005218 p.Gly337Ser Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005219 p.Arg341Trp Disease rs11555096 Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005220 p.Pro342Leu Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005222 p.Gly369Val Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005223 p.Arg381Gly Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_005224 p.Phe405His Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_065454 p.Ala35Thr Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAH P16930 VAR_065455 p.Gln279Arg Disease - Tyrosinemia type 1 (TYRO1) [MIM:276700]
FAHD1 Q6P587 VAR_049014 p.Asp110Asn Polymorphism rs3743853 -
FAHD2A Q96GK7 VAR_049015 p.Met198Thr Polymorphism rs1045332 -
FAIM Q9NVQ4 VAR_024314 p.Ala117Thr Polymorphism rs641320 -
FAIM Q9NVQ4 VAR_024315 p.Leu127Ser Polymorphism rs13043 -
FAM104B Q5XKR9 VAR_055796 p.Ser60Gly Polymorphism rs1047037 -
FAM105A Q9NUU6 VAR_030281 p.Phe319Leu Polymorphism rs16903574 -
FAM105B Q96BN8 VAR_029469 p.Ser227Asn Polymorphism rs9312870 -
FAM105B Q96BN8 VAR_053819 p.Met155Leu Polymorphism rs11953822 -
FAM105B Q96BN8 VAR_053820 p.Asn311Ser Polymorphism rs9312870 -
FAM107A O95990 VAR_017238 p.Leu15Met Unclassified - Ovarian cancer
FAM107A O95990 VAR_017239 p.Pro19Leu Unclassified - Renal cell carcinoma cell line
FAM107A O95990 VAR_049016 p.Ala89Ser Polymorphism rs1043942 -
FAM107A O95990 VAR_049017 p.Glu141Gln Polymorphism rs11539086 -
FAM108B1 Q5VST6 VAR_031230 p.Gln169Lys Polymorphism rs17854317 -
FAM108B1 Q5VST6 VAR_054080 p.Arg154Lys Polymorphism rs12380380 -
FAM109B Q6ICB4 VAR_028822 p.Ala188Gly Polymorphism rs1807493 -
FAM110A Q9BQ89 VAR_060150 p.Leu284Ile Polymorphism rs6055290 -
FAM110B Q8TC76 VAR_036319 p.Ala214Ser Unclassified - A colorectal cancer sample
FAM111B Q6SJ93 VAR_030282 p.Pro731Ala Polymorphism rs17153376 -
FAM111B Q6SJ93 VAR_053821 p.Gly218Asp Polymorphism rs1060428 -
FAM113A Q9H1Q7 VAR_021945 p.Gln22His Polymorphism rs2274670 -
FAM113B Q96HM7 VAR_042761 p.Pro429Ala Polymorphism rs2543737 -
FAM114A1 Q8IWE2 VAR_030320 p.Gly84Arg Polymorphism rs11096964 -
FAM114A1 Q8IWE2 VAR_030321 p.Leu116Pro Polymorphism rs11944159 -
FAM114A1 Q8IWE2 VAR_030322 p.Pro201Leu Polymorphism rs430296 -
FAM114A1 Q8IWE2 VAR_030323 p.Arg367His Polymorphism rs2306923 -
FAM114A1 Q8IWE2 VAR_030324 p.Val443Ile Polymorphism rs17429619 -
FAM114A1 Q8IWE2 VAR_053823 p.Ser40Leu Polymorphism rs34137542 -
FAM114A1 Q8IWE2 VAR_053824 p.Ser446Leu Polymorphism rs36058104 -
FAM118A Q9NWS6 VAR_022808 p.Val129Leu Polymorphism rs11556482 -
FAM118A Q9NWS6 VAR_022809 p.Arg239His Polymorphism rs6007594 -
FAM120A Q9NZB2 VAR_054400 p.Tyr327His Polymorphism rs11541747 -
FAM120AOS Q5T036 VAR_043677 p.Leu22Phe Polymorphism rs1055710 -
FAM120AOS Q5T036 VAR_043678 p.Lys241Glu Polymorphism rs10821128 -
FAM120B Q96EK7 VAR_043021 p.Asp370Tyr Polymorphism rs6917485 -
FAM120B Q96EK7 VAR_043022 p.Met379Thr Polymorphism rs6905356 -
FAM120B Q96EK7 VAR_043023 p.Tyr428Cys Polymorphism rs6900199 -
FAM120B Q96EK7 VAR_043024 p.Asp430Gly Polymorphism rs6900202 -
FAM120B Q96EK7 VAR_043025 p.Ser431Pro Polymorphism rs6905610 -
FAM120B Q96EK7 VAR_043026 p.Pro433Ala Polymorphism rs6934830 -
FAM120B Q96EK7 VAR_043027 p.Tyr440Cys Polymorphism rs9366138 -
FAM120B Q96EK7 VAR_043028 p.Cys511Gly Polymorphism rs9348266 -
FAM120C Q9NX05 VAR_047538 p.Ile82Thr Polymorphism rs2495783 -
FAM120C Q9NX05 VAR_062001 p.Met934Ile Polymorphism rs41304786 -
FAM123A Q8N7J2 VAR_031303 p.Ile659Met Polymorphism rs2282406 -
FAM123A Q8N7J2 VAR_036448 p.Ala457Thr Unclassified - A colorectal cancer sample
FAM123B Q5JTC6 VAR_031304 p.Lys292Asn Polymorphism - -
FAM123B Q5JTC6 VAR_053870 p.Phe159Leu Polymorphism rs34677493 -
FAM123B Q5JTC6 VAR_053871 p.Ala278Ser Polymorphism rs35718712 -
FAM123C Q8N944 VAR_039218 p.Ser340Pro Polymorphism rs1905235 -
FAM124A Q86V42 VAR_032098 p.Asp181His Polymorphism rs17075482 -
FAM124B Q9H5Z6 VAR_060151 p.Ile257Thr Polymorphism rs3738954 -
FAM125A Q96EY5 VAR_049018 p.Cys106Tyr Polymorphism rs34949802 -
FAM126A Q9BYI3 VAR_030647 p.Leu53Pro Disease - Leukodystrophy hypomyelinating type 5 (HLD5) [MIM:610532]
FAM127A A6ZKI3 VAR_053975 p.Ser60Asn Polymorphism rs1056977 -
FAM127A O15255 VAR_037283 p.Ser152Trp Polymorphism rs5930670 -
FAM127B Q9BWD3 VAR_060162 p.Ser48Cys Polymorphism rs2498776 -
FAM129A Q9BZQ8 VAR_053533 p.Ser633Leu Polymorphism rs12750174 -
FAM129A Q9BZQ8 VAR_053534 p.Asp692Asn Polymorphism rs35704242 -
FAM129A Q9BZQ8 VAR_053535 p.Val720Met Polymorphism rs17313374 -
FAM129A Q9BZQ8 VAR_053536 p.Gly830Ser Polymorphism rs35601690 -
FAM129C Q86XR2 VAR_039583 p.Ile229Thr Polymorphism rs8107859 -
FAM129C Q86XR2 VAR_039584 p.Leu543Phe Polymorphism rs10401716 -
FAM129C Q86XR2 VAR_039585 p.Gly603Ser Polymorphism rs11666267 -
FAM129C Q86XR2 VAR_062126 p.Thr493Met Polymorphism rs45532635 -
FAM131A Q6UXB0 VAR_036118 p.Ser260Asn Unclassified - A breast cancer sample
FAM131A Q6UXB0 VAR_053919 p.Cys52Arg Polymorphism rs13434353 -
FAM131B Q86XD5 VAR_053920 p.Ala307Thr Polymorphism rs17854363 -
FAM131C Q96AQ9 VAR_031130 p.Lys48Glu Polymorphism rs2863458 -
FAM131C Q96AQ9 VAR_031131 p.Arg107Gln Polymorphism rs11557063 -
FAM131C Q96AQ9 VAR_031132 p.Pro123Arg Polymorphism rs11576236 -
FAM131C Q96AQ9 VAR_031133 p.Ser215Ile Polymorphism rs1832151 -
FAM131C Q96AQ9 VAR_031134 p.Glu226Asp Polymorphism rs17853749 -
FAM132A Q5T7M4 VAR_054065 p.Gly14Arg Polymorphism rs7539412 -
FAM133A Q8N9E0 VAR_053907 p.Glu67Lys Polymorphism rs34123774 -
FAM134A Q8NC44 VAR_022835 p.Pro419Gln Polymorphism rs3731900 -
FAM134A Q8NC44 VAR_033720 p.Arg374His Polymorphism rs3210652 -
FAM134B Q9H6L5 VAR_032422 p.Gln379Glu Polymorphism rs34432513 -
FAM135A Q9P2D6 VAR_037854 p.Ile725Val Polymorphism rs9455142 -
FAM135A Q9P2D6 VAR_037855 p.Pro954Ser Polymorphism rs16869301 -
FAM135A Q9P2D6 VAR_037856 p.Asp1242Gly Polymorphism rs2747701 -
FAM135B Q49AJ0 VAR_053980 p.Ile477Val Polymorphism rs7835830 -
FAM135B Q49AJ0 VAR_053981 p.Asp846Asn Polymorphism rs2978180 -
FAM135B Q49AJ0 VAR_062218 p.Ser578Asn Polymorphism rs57534956 -
FAM135B Q49AJ0 VAR_062219 p.Val1142Ile Polymorphism rs35765793 -
FAM13A O94988 VAR_049019 p.Val769Ile Polymorphism rs7657817 -
FAM13B Q9NYF5 VAR_049020 p.Met802Val Polymorphism rs33956817 -
FAM13C Q8NE31 VAR_047661 p.Pro82His Polymorphism rs17853626 -
FAM149A A5PLN7 VAR_039050 p.Lys332Glu Polymorphism rs4862650 -
FAM149A A5PLN7 VAR_039051 p.Lys437Glu Polymorphism rs4862653 -
FAM149A A5PLN7 VAR_039052 p.His505Arg Polymorphism rs2276924 -
FAM149A A5PLN7 VAR_039053 p.Pro532Leu Polymorphism rs2276922 -
FAM149A A5PLN7 VAR_039054 p.Arg722Trp Polymorphism rs9991339 -
FAM149A A5PLN7 VAR_039055 p.Leu748Val Polymorphism rs6818265 -
FAM149B1 Q96BN6 VAR_060167 p.Gly571Arg Polymorphism rs12573841 -
FAM151A Q8WW52 VAR_037109 p.Asp51Asn Polymorphism rs17399297 -
FAM151A Q8WW52 VAR_037110 p.Asn87Asp Polymorphism rs17856620 -
FAM151A Q8WW52 VAR_037111 p.Ile119Thr Polymorphism rs17851843 -
FAM151A Q8WW52 VAR_037112 p.Ala416Val Polymorphism rs1368883 -
FAM151A Q8WW52 VAR_037113 p.Gly526Ala Polymorphism rs11206394 -
FAM151A Q8WW52 VAR_037114 p.Gly546Asp Polymorphism rs2289015 -
FAM151B Q6UXP7 VAR_053992 p.Ile155Thr Polymorphism rs369998 -
FAM154A Q8IYX7 VAR_023229 p.Lys27Glu Polymorphism rs7021572 -
FAM154A Q8IYX7 VAR_023230 p.Pro63Ser Polymorphism rs6475273 -
FAM154A Q8IYX7 VAR_057807 p.Asn385Ser Polymorphism rs34119945 -
FAM154B Q658L1 VAR_039359 p.Ser8Gly Polymorphism rs11631813 -
FAM154B Q658L1 VAR_039360 p.Pro34Leu Polymorphism rs16973457 -
FAM154B Q658L1 VAR_039361 p.Trp225Arg Polymorphism rs11630197 -
FAM155B O75949 VAR_043975 p.Leu172Pro Polymorphism rs1171942 -
FAM158A Q9Y3B6 VAR_052532 p.Ala97Val Polymorphism rs11574512 -
FAM159B A6NKW6 VAR_053995 p.Ser5Arg Polymorphism rs16893053 -
FAM159B A6NKW6 VAR_053996 p.Ala111Pro Polymorphism rs2305962 -
FAM160A2 Q8N612 VAR_028739 p.Thr491Met Polymorphism rs3750944 -
FAM160A2 Q8N612 VAR_028740 p.Arg619Leu Polymorphism rs3750943 -
FAM160A2 Q8N612 VAR_028741 p.Gln754His Polymorphism rs11040808 -
FAM160A2 Q8N612 VAR_057805 p.Arg462Trp Polymorphism rs35932378 -
FAM160B1 Q5W0V3 VAR_031793 p.Leu408Ile Polymorphism rs17853717 -
FAM160B1 Q5W0V3 VAR_031794 p.Phe631Leu Polymorphism rs3180654 -
FAM160B2 Q86V87 VAR_054008 p.Thr315Ala Polymorphism rs35497596 -
FAM160B2 Q86V87 VAR_054009 p.Gly667Arg Polymorphism rs7822461 -
FAM161A Q3B820 VAR_042630 p.Ile236Val Polymorphism rs17513722 -
FAM161A Q3B820 VAR_042631 p.Glu273Lys Polymorphism rs6733774 -
FAM161A Q3B820 VAR_060180 p.Ile107Met Polymorphism rs11125895 -
FAM161B Q96MY7 VAR_027963 p.Gly11Ala Polymorphism rs11848954 -
FAM161B Q96MY7 VAR_027964 p.Leu622Pro Polymorphism rs17094077 -
FAM162A Q96A26 VAR_028849 p.Ala50Val Polymorphism rs17850692 -
FAM162B Q5T6X4 VAR_053782 p.Gln71His Polymorphism rs654128 -
FAM164A Q96GY0 VAR_031102 p.Thr156Ala Polymorphism rs17850447 -
FAM165B P58511 VAR_054066 p.Lys51Arg Polymorphism rs34016792 -
FAM167A Q96KS9 VAR_062205 p.His56Gln Polymorphism rs3021513 -
FAM167A Q96KS9 VAR_062206 p.Thr107Ser Polymorphism rs3021512 -
FAM169B Q8N8A8 VAR_044345 p.Ser115Pro Polymorphism rs12101356 -
FAM170A A1A519 VAR_047312 p.Pro173Ser Polymorphism rs328694 -
FAM170B A6NMN3 VAR_037062 p.Arg69Leu Polymorphism rs17773851 -
FAM171A1 Q5VUB5 VAR_030220 p.Pro465Ser Polymorphism rs3814165 -
FAM171B Q6P995 VAR_032269 p.Val302Ile Polymorphism rs17855085 -
FAM172A Q8WUF8 VAR_039312 p.Ser131Asn Polymorphism rs17083426 -
FAM173B Q6P4H8 VAR_039345 p.Thr75Met Polymorphism rs2438652 -
FAM173B Q6P4H8 VAR_039346 p.Ala105Val Polymorphism rs16884350 -
FAM173B Q6P4H8 VAR_039347 p.Val114Ala Polymorphism rs17360625 -
FAM173B Q6P4H8 VAR_039348 p.Leu229Met Polymorphism rs15757 -
FAM174B Q3ZCQ3 VAR_039989 p.Ser116Leu Polymorphism rs34052034 -
FAM175A Q6UWZ7 VAR_030790 p.Ala239Thr Polymorphism rs12642536 -
FAM175A Q6UWZ7 VAR_054054 p.Ala348Thr Polymorphism rs12642536 -
FAM175A Q6UWZ7 VAR_054055 p.Asp373Asn Polymorphism rs13125836 -
FAM176A Q9H8M9 VAR_054077 p.Arg150His Polymorphism rs11126472 -
FAM177B A6PVY3 VAR_039953 p.Ile3Ser Polymorphism rs2378607 -
FAM177B A6PVY3 VAR_054090 p.Gln143Arg Polymorphism rs6683071 -
FAM178A Q8IX21 VAR_023112 p.Ser541Tyr Polymorphism rs10883563 -
FAM178B Q8IXR5 VAR_039172 p.Arg793Cys Polymorphism rs34013660 -
FAM179A Q6ZUX3 VAR_054091 p.Ala55Thr Polymorphism rs13009279 -
FAM179A Q6ZUX3 VAR_054092 p.Gln265Arg Polymorphism rs12623297 -
FAM179A Q6ZUX3 VAR_054093 p.Gln362Arg Polymorphism rs11127202 -
FAM179A Q6ZUX3 VAR_054094 p.Ile441Val Polymorphism rs1109758 -
FAM179A Q6ZUX3 VAR_054095 p.Val535Ala Polymorphism rs6721861 -
FAM179A Q6ZUX3 VAR_054096 p.Thr941Ala Polymorphism rs895591 -
FAM179A Q6ZUX3 VAR_054097 p.Gly944Val Polymorphism rs7577483 -
FAM179A Q6ZUX3 VAR_062242 p.Arg724Cys Polymorphism rs60403047 -
FAM179B Q9Y4F4 VAR_027739 p.Glu416Gln Polymorphism rs3825629 -
FAM179B Q9Y4F4 VAR_027740 p.Leu511Val Polymorphism rs3742591 -
FAM180A Q6UWF9 VAR_054081 p.Val96Ile Polymorphism rs3112374 -
FAM180B Q6P0A1 VAR_046379 p.Ala186Thr Polymorphism rs4486587 -
FAM181A Q8N9Y4 VAR_022834 p.Ala28Thr Polymorphism rs10141024 -
FAM181A Q8N9Y4 VAR_057822 p.Leu162Met Polymorphism rs34220325 -
FAM181B A6NEQ2 VAR_039694 p.Val186Leu Polymorphism rs986097 -
FAM181B A6NEQ2 VAR_039695 p.Arg367Pro Polymorphism rs6592081 -
FAM184A Q8NB25 VAR_054101 p.Gln174His Polymorphism rs34681930 -
FAM184A Q8NB25 VAR_054102 p.Val177Gly Polymorphism rs34977570 -
FAM184A Q8NB25 VAR_054103 p.Asp599Asn Polymorphism rs17827619 -
FAM184B Q9ULE4 VAR_039202 p.Asn952Ser Polymorphism rs16895365 -
FAM184B Q9ULE4 VAR_039203 p.Val1042Ala Polymorphism rs6825562 -
FAM185A Q8N0U4 VAR_039356 p.Gly60Ala Polymorphism rs28695887 -
FAM186A A6NE01 VAR_054419 p.Lys187Gln Polymorphism rs12303082 -
FAM186A A6NE01 VAR_054420 p.Arg1204Gly Polymorphism rs10876024 -
FAM186A A6NE01 VAR_054421 p.Leu1233Pro Polymorphism rs10876023 -
FAM186A A6NE01 VAR_054422 p.His2166Tyr Polymorphism rs7296291 -
FAM186A A6NE01 VAR_054423 p.Met2193Ile Polymorphism rs6580742 -
FAM186A A6NE01 VAR_054424 p.His2228Gln Polymorphism rs6580741 -
FAM186A A6NE01 VAR_054425 p.Gln2316Glu Polymorphism rs12809349 -
FAM186B Q8IYM0 VAR_027777 p.Val397Met Polymorphism rs17853450 -
FAM186B Q8IYM0 VAR_027778 p.Glu553Gln Polymorphism rs12299908 -
FAM187B Q17R55 VAR_031790 p.Pro3Ser Polymorphism rs34873156 -
FAM187B Q17R55 VAR_031791 p.Cys160Arg Polymorphism rs565791 -
FAM187B Q17R55 VAR_031792 p.Val216Ile Polymorphism rs564117 -
FAM188B Q4G0A6 VAR_039212 p.Asp183Ala Polymorphism rs34357272 -
FAM188B Q4G0A6 VAR_039213 p.Ser262Leu Polymorphism rs17159453 -
FAM188B Q4G0A6 VAR_039214 p.Thr322Met Polymorphism rs12701034 -
FAM188B Q4G0A6 VAR_039215 p.Arg324Lys Polymorphism rs35897481 -
FAM188B Q4G0A6 VAR_039216 p.Ala355Val Polymorphism rs12672119 -
FAM188B Q4G0A6 VAR_039217 p.Met655Val Polymorphism rs10216063 -
FAM188B Q4G0A6 VAR_062248 p.Cys465Tyr Polymorphism rs34970833 -
FAM189A1 O60320 VAR_039544 p.His375Arg Polymorphism rs2256277 -
FAM189A1 O60320 VAR_039545 p.Arg393His Polymorphism rs2256273 -
FAM189A1 O60320 VAR_059333 p.Gly228Ser Polymorphism rs2292628 -
FAM189A1 O60320 VAR_059334 p.Gly314Asp Polymorphism rs2306933 -
FAM189A1 O60320 VAR_059335 p.Val431Ala Polymorphism rs2279482 -
FAM189A2 Q15884 VAR_047364 p.Thr233Ile Polymorphism rs35386391 -
FAM189A2 Q15884 VAR_050823 p.Arg261Lys Polymorphism rs11138396 -
FAM189B P81408 VAR_035684 p.Ser358Phe Unclassified - A breast cancer sample
FAM189B P81408 VAR_037876 p.Arg549His Polymorphism rs2072648 -
FAM189B P81408 VAR_056842 p.Arg646His Polymorphism rs2072648 -
FAM18B1 Q9NYZ1 VAR_060476 p.Gly55Glu Polymorphism rs61075345 -
FAM18B2 Q96ET8 VAR_024929 p.Asp12Ala Polymorphism rs17850827 -
FAM18B2 Q96ET8 VAR_055797 p.Leu271Gln Polymorphism rs12150518 -
FAM190A Q9C0I3 VAR_059336 p.Gly382Ser Polymorphism rs12647859 -
FAM190B Q9H7U1 VAR_036952 p.Asn84Ser Polymorphism rs3814205 -
FAM190B Q9H7U1 VAR_036953 p.Cys755Tyr Polymorphism rs11201058 -
FAM190B Q9H7U1 VAR_036954 p.Ser819Pro Polymorphism rs11557865 -
FAM190B Q9H7U1 VAR_036955 p.Pro821Ser Polymorphism rs12569751 -
FAM193A P78312 VAR_022863 p.Met192Val Polymorphism rs17164077 -
FAM193A P78312 VAR_056783 p.Ile1115Val Polymorphism rs17681870 -
FAM193B Q96PV7 VAR_045619 p.Pro816Ser Polymorphism rs337382 -
FAM194A Q7L0X2 VAR_032893 p.Gly9Val Polymorphism rs16862795 -
FAM194A Q7L0X2 VAR_032894 p.Gly433Arg Polymorphism rs11919896 -
FAM194A Q7L0X2 VAR_062240 p.Arg604His Polymorphism rs34137455 -
FAM194B Q5W0A0 VAR_039969 p.Glu63Asp Polymorphism rs12020217 -
FAM194B Q5W0A0 VAR_039970 p.Glu99Gly Polymorphism rs12020731 -
FAM194B Q5W0A0 VAR_039971 p.Ser174Thr Polymorphism rs17066954 -
FAM194B Q5W0A0 VAR_039972 p.Glu178Lys Polymorphism rs3014939 -
FAM194B Q5W0A0 VAR_039973 p.Leu303Pro Polymorphism rs11618506 -
FAM194B Q5W0A0 VAR_039974 p.Thr427Ile Polymorphism rs749071 -
FAM194B Q5W0A0 VAR_039975 p.Pro439Arg Polymorphism rs12429125 -
FAM194B Q5W0A0 VAR_039976 p.His453Arg Polymorphism rs17066902 -
FAM194B Q5W0A0 VAR_039977 p.Arg565Cys Polymorphism rs7327901 -
FAM194B Q5W0A0 VAR_039978 p.Val653Phe Polymorphism rs1536207 -
FAM196A Q6ZSG2 VAR_042679 p.Ala147Val Polymorphism rs11594560 -
FAM198A Q9UFP1 VAR_063129 p.His227Tyr Polymorphism rs2936817 -
FAM198A Q9UFP1 VAR_063130 p.Gln460Arg Polymorphism rs536119 -
FAM198B Q6UWH4 VAR_032514 p.Gly432Ser Polymorphism rs17857283 -
FAM205B Q63HN1 VAR_036833 p.Asn72Lys Polymorphism rs521552 -
FAM205B Q63HN1 VAR_036834 p.Asp203Glu Polymorphism rs524512 -
FAM205B Q63HN1 VAR_036835 p.Val229Met Polymorphism rs516485 -
FAM207A Q9NSI2 VAR_021949 p.Val212Leu Polymorphism rs3737075 -
FAM208A Q9UK61 VAR_033350 p.Ala831Gly Polymorphism rs17056999 -
FAM208A Q9UK61 VAR_033351 p.Thr1046Arg Polymorphism rs9835332 -
FAM208A Q9UK61 VAR_033352 p.Ile1435Val Polymorphism rs2291498 -
FAM208A Q9UK61 VAR_055092 p.Val998Ile Polymorphism rs2291498 -
FAM208A Q9UK61 VAR_059595 p.Gln38Pro Polymorphism rs958755 -
FAM208B Q5VWN6 VAR_034838 p.Arg1075Pro Polymorphism rs2797491 -
FAM208B Q5VWN6 VAR_034839 p.Val1679Ala Polymorphism rs2669142 -
FAM208B Q5VWN6 VAR_034840 p.Ser2404Asn Polymorphism rs2797501 -
FAM208B Q5VWN6 VAR_050848 p.Cys499Gly Polymorphism rs2254067 -
FAM208B Q5VWN6 VAR_050849 p.Ala630Asp Polymorphism rs4748636 -
FAM208B Q5VWN6 VAR_050850 p.Val1206Met Polymorphism rs3814196 -
FAM208B Q5VWN6 VAR_050851 p.Pro1578Ser Polymorphism rs17143175 -
FAM208B Q5VWN6 VAR_050852 p.Thr1782Ile Polymorphism rs11593253 -
FAM208B Q5VWN6 VAR_050853 p.Lys2288Arg Polymorphism rs2275774 -
FAM208B Q5VWN6 VAR_061601 p.Ser724Tyr Polymorphism rs56856085 -
FAM208B Q5VWN6 VAR_061602 p.Ile807Val Polymorphism rs45575338 -
FAM209A Q5JX71 VAR_029621 p.Val66Ala Polymorphism rs707554 -
FAM209A Q5JX71 VAR_029622 p.Met117Lys Polymorphism rs1054349 -
FAM209A Q5JX71 VAR_029623 p.Arg135Gly Polymorphism rs1054358 -
FAM209A Q5JX71 VAR_029624 p.Arg146Lys Polymorphism rs1054361 -
FAM209A Q5JX71 VAR_033761 p.Leu95Phe Polymorphism rs1054343 -
FAM209B Q5JX69 VAR_033762 p.Glu129Ala Polymorphism rs2296129 -
FAM209B Q5JX69 VAR_050918 p.Gln74Lys Polymorphism rs3209183 -
FAM209B Q5JX69 VAR_061633 p.Glu84Lys Polymorphism rs61440263 -
FAM20A Q96MK3 VAR_059282 p.Asn332Lys Polymorphism rs2302234 -
FAM20A Q96MK3 VAR_059283 p.Leu530Ser Polymorphism rs2907373 -
FAM20C Q8IXL6 VAR_037530 p.Gly379Glu Disease - Raine syndrome (RNS) [MIM:259775]
FAM20C Q8IXL6 VAR_037531 p.Gly379Arg Disease - Raine syndrome (RNS) [MIM:259775]
FAM20C Q8IXL6 VAR_037532 p.Leu388Arg Disease - Raine syndrome (RNS) [MIM:259775]
FAM20C Q8IXL6 VAR_037533 p.Arg549Trp Disease - Raine syndrome (RNS) [MIM:259775]
FAM210A Q96ND0 VAR_035686 p.Arg82His Unclassified - A breast cancer sample
FAM210A Q96ND0 VAR_035687 p.Val140Glu Unclassified - A breast cancer sample
FAM210A Q96ND0 VAR_056844 p.Tyr39Asn Polymorphism rs35493157 -
FAM210A Q96ND0 VAR_060439 p.Glu167Lys Polymorphism rs2847146 -
FAM210B Q96KR6 VAR_033763 p.Pro126Ser Polymorphism rs6099115 -
FAM211B Q2VPJ9 VAR_051125 p.Ser140Arg Polymorphism rs743370 -
FAM24B Q8N5W8 VAR_038485 p.Pro2Leu Polymorphism rs1891110 -
FAM25A Q5VTM1 VAR_054062 p.Val35Leu Polymorphism rs7079587 -
FAM26F Q5R3K3 VAR_053085 p.Gly80Arg Polymorphism rs1057192 -
FAM26F Q5R3K3 VAR_053086 p.Glu293Lys Polymorphism rs11544160 -
FAM35A Q86V20 VAR_053997 p.Phe132Leu Polymorphism rs3129520 -
FAM35A Q86V20 VAR_053998 p.Ser550Cys Polymorphism rs11202365 -
FAM35A Q86V20 VAR_053999 p.Arg747His Polymorphism rs11816168 -
FAM3A P98173 VAR_011923 p.Trp213Cys Polymorphism rs1050788 -
FAM3A P98173 VAR_057531 p.Ile21Met Polymorphism rs35985994 -
FAM3B P58499 VAR_021953 p.Val14Met Polymorphism rs2838012 -
FAM3D Q96BQ1 VAR_053087 p.Pro60Ser Polymorphism rs17059569 -
FAM3D Q96BQ1 VAR_053088 p.Ala118Ser Polymorphism rs33966924 -
FAM40B Q9ULQ0 VAR_049021 p.Arg383Gln Polymorphism rs2242030 -
FAM46A Q96IP4 VAR_028979 p.Thr313Ala Polymorphism - -
FAM46C Q5VWP2 VAR_060132 p.His67Gln Polymorphism rs1630312 -
FAM46D Q8NEK8 VAR_028980 p.Asp185Glu Polymorphism rs1113265 -
FAM47A Q5JRC9 VAR_054412 p.Phe50Leu Polymorphism rs17856750 -
FAM47A Q5JRC9 VAR_054413 p.Val232Glu Polymorphism rs17856751 -
FAM47A Q5JRC9 VAR_054414 p.Ala377Ser Polymorphism rs1811716 -
FAM47A Q5JRC9 VAR_054416 p.Gly531Arg Polymorphism rs5971820 -
FAM47C Q5HY64 VAR_046358 p.Asn924Thr Polymorphism rs1995914 -
FAM48A Q8NEM7 VAR_055798 p.Met154Val Polymorphism rs7324275 -
FAM48A Q8NEM7 VAR_055799 p.Thr773Met Polymorphism rs9469 -
FAM49B Q9NUQ9 VAR_019704 p.Asn169Lys Polymorphism - -
FAM53C Q9NYF3 VAR_053089 p.Arg21Cys Polymorphism rs35360938 -
FAM54B Q9H019 VAR_044084 p.Pro58Ser Polymorphism rs35448678 -
FAM55A Q8N323 VAR_036712 p.Gly353Arg Polymorphism rs10891692 -
FAM55A Q8N323 VAR_036713 p.Ile423Thr Polymorphism rs34993124 -
FAM55B Q96DL1 VAR_034647 p.Val103Ala Polymorphism rs11215158 -
FAM55C Q969Y0 VAR_049024 p.Thr507Ile Polymorphism rs3796277 -
FAM55D Q6UWF7 VAR_049025 p.Tyr398His Polymorphism rs550897 -
FAM55D Q6UWF7 VAR_049026 p.Ala451Val Polymorphism rs10891705 -
FAM58A Q8N1B3 VAR_034642 p.Cys183Ser Polymorphism rs17850173 -
FAM58BP P0C7Q3 VAR_044332 p.Gln48Arg Polymorphism rs12028402 -
FAM58BP P0C7Q3 VAR_044333 p.Thr236Asn Polymorphism rs10919847 -
FAM59A Q9H706 VAR_030580 p.Thr243Asn Polymorphism rs671138 -
FAM59A Q9H706 VAR_030581 p.Lys291Arg Polymorphism rs3744921 -
FAM59A Q9H706 VAR_030582 p.Ala490Val Polymorphism rs16962974 -
FAM59A Q9H706 VAR_030583 p.Val580Ile Polymorphism rs3891458 -
FAM59A Q9H706 VAR_030584 p.Thr720Met Polymorphism rs2276374 -
FAM5B Q9C0B6 VAR_049022 p.Tyr71Cys Polymorphism rs16850984 -
FAM5B Q9C0B6 VAR_049023 p.Leu390Val Polymorphism rs3176443 -
FAM60A Q9NP50 VAR_049027 p.Arg117His Polymorphism rs2304459 -
FAM63A Q8N5J2 VAR_044541 p.Thr385Lys Polymorphism rs2925741 -
FAM64A Q9BSJ6 VAR_056873 p.Ser199Cys Polymorphism rs16955870 -
FAM65B Q9Y4F9 VAR_032572 p.Ala145Gly Polymorphism rs11967003 -
FAM65B Q9Y4F9 VAR_032573 p.Val320Met Polymorphism rs35331811 -
FAM65B Q9Y4F9 VAR_032574 p.Glu424Lys Polymorphism rs34016544 -
FAM65B Q9Y4F9 VAR_032575 p.Ser452Cys Polymorphism rs34298086 -
FAM65B Q9Y4F9 VAR_032576 p.Glu495Lys Polymorphism rs35514577 -
FAM65B Q9Y4F9 VAR_032577 p.Arg520Cys Polymorphism rs35780910 -
FAM65B Q9Y4F9 VAR_062193 p.Arg868Gln Polymorphism rs9461073 -
FAM65C Q96MK2 VAR_053914 p.Leu580Pro Polymorphism rs6020624 -
FAM65C Q96MK2 VAR_062194 p.Cys566Ser Polymorphism rs35965508 -
FAM69B Q5VUD6 VAR_032295 p.Ser158Gly Polymorphism rs945384 -
FAM70A Q5JRV8 VAR_029637 p.Pro345Gln Polymorphism rs17854410 -
FAM71A Q8IYT1 VAR_029464 p.Asn22Asp Polymorphism rs17853363 -
FAM71A Q8IYT1 VAR_029465 p.Asn253Ser Polymorphism rs3122712 -
FAM71A Q8IYT1 VAR_029466 p.Gly319Asp Polymorphism rs17853362 -
FAM71A Q8IYT1 VAR_029467 p.Asn551Asp Polymorphism rs3122713 -
FAM71A Q8IYT1 VAR_029468 p.Thr577Met Polymorphism rs3795842 -
FAM71B Q8TC56 VAR_032036 p.Ala543Val Polymorphism rs17852327 -
FAM71B Q8TC56 VAR_032037 p.Met564Thr Polymorphism rs31208 -
FAM71B Q8TC56 VAR_032038 p.Val599Ile Polymorphism rs2115480 -
FAM71C Q8NEG0 VAR_029638 p.Arg30Gly Polymorphism rs11109968 -
FAM71C Q8NEG0 VAR_029639 p.Met71Val Polymorphism rs11109969 -
FAM71E1 Q6IPT2 VAR_043465 p.Ser206Ile Polymorphism rs736769 -
FAM71F1 Q96KD3 VAR_037271 p.Ser228Leu Polymorphism rs6949056 -
FAM71F1 Q96KD3 VAR_037272 p.Glu242Lys Polymorphism rs6971091 -
FAM71F2 Q6NXP2 VAR_037267 p.Pro112Thr Polymorphism rs17169357 -
FAM71F2 Q6NXP2 VAR_037268 p.Asp114Val Polymorphism rs6971819 -
FAM71F2 Q6NXP2 VAR_037269 p.Arg136Trp Polymorphism rs6467210 -
FAM71F2 Q6NXP2 VAR_037270 p.Ile251Val Polymorphism rs1109552 -
FAM72B Q86X60 VAR_044011 p.Gly82Val Polymorphism rs17838150 -
FAM72B Q86X60 VAR_044012 p.Pro94Leu Polymorphism rs1572701 -
FAM73B Q7L4E1 VAR_037690 p.Glu78Lys Polymorphism rs6478859 -
FAM73B Q7L4E1 VAR_037691 p.Val100Ala Polymorphism rs16930845 -
FAM73B Q7L4E1 VAR_037692 p.Gly212Ser Polymorphism rs17452596 -
FAM74A7 A6NL05 VAR_045629 p.Asp12Tyr Polymorphism rs11793234 -
FAM74A7 A6NL05 VAR_045630 p.Arg72Lys Polymorphism rs2261191 -
FAM74A7 A6NL05 VAR_045631 p.Arg86Thr Polymorphism rs6423979 -
FAM81B Q96LP2 VAR_057968 p.Arg150Gly Polymorphism rs10042271 -
FAM81B Q96LP2 VAR_057969 p.Ala187Val Polymorphism rs11555275 -
FAM81B Q96LP2 VAR_057970 p.Arg239Gln Polymorphism rs1541797 -
FAM81B Q96LP2 VAR_057971 p.Pro275Ser Polymorphism rs6878669 -
FAM82A1 Q96LZ7 VAR_032316 p.Gly259Asp Polymorphism rs4670800 -
FAM82A2 Q96TC7 VAR_049029 p.Gln33His Polymorphism rs11558807 -
FAM82B Q96DB5 VAR_049028 p.Lys52Asn Polymorphism rs6980476 -
FAM83A Q86UY5 VAR_032178 p.Ala237Thr Polymorphism rs7813708 -
FAM83B Q5T0W9 VAR_034638 p.Asn410Ser Polymorphism rs13211183 -
FAM83B Q5T0W9 VAR_034639 p.Ser435Arg Polymorphism rs9475076 -
FAM83B Q5T0W9 VAR_034640 p.Lys640Thr Polymorphism rs239798 -
FAM83B Q5T0W9 VAR_034641 p.Thr907Asn Polymorphism rs9475077 -
FAM83C Q9BQN1 VAR_021946 p.Arg621Gln Polymorphism rs2425049 -
FAM83C Q9BQN1 VAR_053900 p.Glu134Lys Polymorphism rs35162625 -
FAM83C Q9BQN1 VAR_053901 p.Tyr600His Polymorphism rs35560631 -
FAM83C Q9BQN1 VAR_053902 p.Arg645Cys Polymorphism rs35518957 -
FAM83E Q2M2I3 VAR_038130 p.Thr91Ala Polymorphism rs447802 -
FAM83E Q2M2I3 VAR_038131 p.Pro311Leu Polymorphism rs3745728 -
FAM83E Q2M2I3 VAR_038132 p.Arg372His Polymorphism rs3745727 -
FAM83F Q8NEG4 VAR_038134 p.Arg245Ser Polymorphism rs12330063 -
FAM83F Q8NEG4 VAR_038135 p.Gly353Ser Polymorphism rs35823589 -
FAM83F Q8NEG4 VAR_038136 p.Ala418Val Unclassified - A breast cancer sample
FAM83F Q8NEG4 VAR_038137 p.Arg436Gly Polymorphism rs5995794 -
FAM83G A6ND36 VAR_053903 p.Ile109Thr Polymorphism rs2074283 -
FAM83H Q6ZRV2 VAR_062189 p.Gln201His Polymorphism rs9969600 -
FAM86A Q96G04 VAR_033854 p.Ser123Cys Polymorphism rs9673733 -
FAM86A Q96G04 VAR_060160 p.Arg270Trp Polymorphism rs3204207 -
FAM86B2 P0C5J1 VAR_036617 p.Asp43Tyr Polymorphism rs2684093 -
FAM86B2 P0C5J1 VAR_036618 p.Arg285Ser Polymorphism rs7817085 -
FAM86C1 Q9NVL1 VAR_036619 p.Ala7Ser Polymorphism rs12283300 -
FAM86C1 Q9NVL1 VAR_036620 p.Arg30Pro Polymorphism rs12283346 -
FAM86C1 Q9NVL1 VAR_036621 p.Val70Ala Polymorphism rs3935309 -
FAM86C1 Q9NVL1 VAR_062211 p.Pro135Leu Polymorphism rs57679800 -
FAM90A1 Q86YD7 VAR_057778 p.Ala234Glu Polymorphism rs9668582 -
FAM90A1 Q86YD7 VAR_060154 p.Arg343Ser Polymorphism rs9668475 -
FAM90A1 Q86YD7 VAR_060155 p.Thr410Ala Polymorphism rs11044098 -
FAM90A1 Q86YD7 VAR_060293 p.Arg123Gly Polymorphism rs9738115 -
FAM90A1 Q86YD7 VAR_060294 p.Pro334Leu Polymorphism rs17855656 -
FAM90A1 Q86YD7 VAR_060295 p.Thr348Ile Polymorphism rs9668474 -
FAM91A1 Q658Y4 VAR_057768 p.Ile704Val Polymorphism rs6470187 -
FAM92A1 A1XBS5 VAR_062190 p.Arg222Gln Polymorphism rs36117362 -
FAM92B Q6ZTR7 VAR_043035 p.Glu22Lys Polymorphism rs9934891 -
FAM98C Q17RN3 VAR_049030 p.Thr240Lys Polymorphism rs3745962 -
FAN1 Q9Y2M0 VAR_037167 p.Gly233Glu Polymorphism rs4779794 -
FANCA O15360 VAR_009637 p.Val6Asp Polymorphism rs1800282 -
FANCA O15360 VAR_009638 p.Asn8Lys Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009639 p.Ala181Val Disease rs17232246 Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009640 p.Leu244Phe Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009641 p.Asp252Gly Disease rs17225943 Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009642 p.Arg435Cys Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009643 p.His492Arg Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009644 p.Gly501Ser Polymorphism rs2239359 -
FANCA O15360 VAR_009645 p.Pro739Leu Polymorphism rs45441106 -
FANCA O15360 VAR_009646 p.Gly809Asp Polymorphism rs7195066 -
FANCA O15360 VAR_009647 p.Leu817Pro Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009648 p.Leu845Pro Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009649 p.Arg1055Leu Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009650 p.His1110Pro Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009651 p.Arg1117Gly Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009652 p.Gln1128Glu Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009653 p.Thr1131Ala Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009655 p.Val1287Ile Polymorphism rs17227354 -
FANCA O15360 VAR_009656 p.Trp1302Arg Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_009657 p.Thr1328Ala Polymorphism rs9282681 -
FANCA O15360 VAR_009658 p.His1417Asp Disease rs17227403 Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_017496 p.Thr266Ala Polymorphism rs7190823 -
FANCA O15360 VAR_017497 p.Asp598Asn Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_017498 p.Ser858Arg Disease rs17233141 Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_017499 p.Arg1055Trp Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_017500 p.Leu1082Pro Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_017501 p.Ser1088Phe Disease rs17233497 Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_017502 p.Phe1262Leu Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_017503 p.Asp1359Tyr Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_017504 p.Met1360Ile Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_017505 p.Pro1324Leu Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_038012 p.Leu210Arg Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_038013 p.Leu660Pro Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_038014 p.Val761Glu Polymorphism - -
FANCA O15360 VAR_038015 p.Tyr843Asp Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_038016 p.Gln869Pro Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_038017 p.Arg951Gln Polymorphism - -
FANCA O15360 VAR_038018 p.Arg951Trp Polymorphism - -
FANCA O15360 VAR_038019 p.Leu1249Pro Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_038020 p.Ala1346Thr Disease rs17227396 Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_038021 p.Arg1400His Disease - Fanconi anemia (FA) [MIM:227650]
FANCA O15360 VAR_050982 p.Thr131Ser Polymorphism rs34491278 -
FANCA O15360 VAR_050983 p.Ser176Phe Polymorphism rs35566151 -
FANCA O15360 VAR_050984 p.Ala277Gly Polymorphism rs35880318 -
FANCA O15360 VAR_050985 p.Gln286Arg Polymorphism rs13336566 -
FANCA O15360 VAR_050986 p.Ala412Val Polymorphism rs11646374 -
FANCA O15360 VAR_050987 p.Pro643Ala Polymorphism rs17232910 -
FANCA O15360 VAR_061649 p.Met717Ile Polymorphism rs1131660 -
FANCC Q00597 VAR_005225 p.Ser26Phe Polymorphism rs1800361 -
FANCC Q00597 VAR_005226 p.Gly139Glu Polymorphism rs1800362 -
FANCC Q00597 VAR_005227 p.Leu190Phe Polymorphism rs1800364 -
FANCC Q00597 VAR_005228 p.Asp195Val Polymorphism rs1800365 -
FANCC Q00597 VAR_005229 p.Ile312Val Polymorphism rs1800366 -
FANCC Q00597 VAR_005230 p.Val449Met Polymorphism rs1800367 -
FANCC Q00597 VAR_005231 p.Gln465Arg Polymorphism rs1800368 -
FANCC Q00597 VAR_005232 p.Leu496Arg Unclassified - -
FANCC Q00597 VAR_005233 p.Leu554Pro Unclassified - -
FANCC Q00597 VAR_016339 p.Ile80Thr Polymorphism rs4647419 -
FANCD2 Q9BXW9 VAR_022559 p.Ser126Gly Disease - Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646]
FANCD2 Q9BXW9 VAR_022560 p.Arg302Trp Disease - Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646]
FANCD2 Q9BXW9 VAR_022561 p.Pro714Leu Polymorphism rs3864017 -
FANCD2 Q9BXW9 VAR_022562 p.Arg1236His Disease - Fanconi anemia complementation group D type 2 (FANCD2) [MIM:227646]
FANCD2 Q9BXW9 VAR_025827 p.Lys33Arg Polymorphism rs34691009 -
FANCD2 Q9BXW9 VAR_025828 p.Thr61Met Polymorphism rs35110529 -
FANCD2 Q9BXW9 VAR_025829 p.Gln65His Polymorphism rs36084488 -
FANCD2 Q9BXW9 VAR_025830 p.Ile172Met Polymorphism rs35173688 -
FANCD2 Q9BXW9 VAR_025831 p.Thr193Ala Polymorphism rs34936017 -
FANCD2 Q9BXW9 VAR_025832 p.Arg328Gln Polymorphism rs35625434 -
FANCD2 Q9BXW9 VAR_025833 p.Leu446Val Polymorphism rs34557223 -
FANCD2 Q9BXW9 VAR_025834 p.Leu456Arg Polymorphism rs35782247 -
FANCD2 Q9BXW9 VAR_025835 p.Gln623Pro Polymorphism rs36070315 -
FANCD2 Q9BXW9 VAR_025836 p.Lys865Arg Polymorphism rs35546777 -
FANCD2 Q9BXW9 VAR_025837 p.Gly901Val Polymorphism rs35495399 -
FANCE Q9HB96 VAR_023372 p.Arg89Leu Polymorphism rs45600543 -
FANCE Q9HB96 VAR_023373 p.Ser204Leu Polymorphism rs7761870 -
FANCE Q9HB96 VAR_023374 p.Gly340Arg Polymorphism rs45524646 -
FANCE Q9HB96 VAR_023375 p.Arg343Gln Polymorphism rs45467798 -
FANCE Q9HB96 VAR_023376 p.Ala502Thr Polymorphism rs9462088 -
FANCE Q9HB96 VAR_038022 p.Pro184Gln Unclassified - -
FANCF Q9NPI8 VAR_022270 p.Pro320Leu Polymorphism rs45451294 -
FANCF Q9NPI8 VAR_050988 p.Val295Ile Polymorphism rs7103293 -
FANCG O15287 VAR_017495 p.Leu71Pro Disease - Fanconi anemia complementation group G (FANCG) [MIM:614082]
FANCG O15287 VAR_020311 p.Thr297Ile Polymorphism rs2237857 -
FANCG O15287 VAR_021103 p.Gly294Glu Polymorphism rs17880082 -
FANCG O15287 VAR_021104 p.Pro330Ser Polymorphism rs4986940 -
FANCG O15287 VAR_021105 p.Ser378Leu Polymorphism rs4986939 -
FANCG O15287 VAR_021106 p.Lys430Glu Polymorphism rs17881054 -
FANCG O15287 VAR_021107 p.Arg513Gln Polymorphism rs17885240 -
FANCG O15287 VAR_021108 p.Ser603Phe Polymorphism rs17878854 -
FANCG O15287 VAR_035864 p.Ala607Thr Unclassified - A colorectal cancer sample
FANCI Q9NVI1 VAR_027278 p.Gln686Lys Polymorphism rs28378332 -
FANCI Q9NVI1 VAR_027279 p.Cys742Ser Polymorphism rs2283432 -
FANCI Q9NVI1 VAR_032689 p.Pro55Leu Polymorphism - -
FANCI Q9NVI1 VAR_032690 p.Ala86Val Polymorphism rs17803620 -
FANCI Q9NVI1 VAR_032691 p.His858Tyr Unclassified - -
FANCI Q9NVI1 VAR_032692 p.Arg1285Gln Unclassified - -
FANCL Q9NW38 VAR_052082 p.Ser144Phe Polymorphism rs36059257 -
FANCM Q8IYD8 VAR_023697 p.Ser175Phe Polymorphism rs10138997 -
FANCM Q8IYD8 VAR_023698 p.Val878Leu Polymorphism rs1367580 -
FANCM Q8IYD8 VAR_023699 p.Pro1812Ala Polymorphism rs3736772 -
FANCM Q8IYD8 VAR_061827 p.Ile208Met Polymorphism rs45547534 -
FANK1 Q8TC84 VAR_024176 p.Leu329Val Polymorphism rs1666 -
FANK1 Q8TC84 VAR_027896 p.Arg46Ser Polymorphism rs17153882 -
FANK1 Q8TC84 VAR_048296 p.Pro12Leu Polymorphism rs17153879 -
FANK1 Q8TC84 VAR_048297 p.Cys343Phe Polymorphism rs17153976 -
FAR1 Q8WVX9 VAR_053800 p.Glu96Lys Polymorphism rs12793516 -
FAR2 Q96K12 VAR_053801 p.Phe326Ser Polymorphism rs17400011 -
FAR2 Q96K12 VAR_053802 p.Ile329Thr Polymorphism rs17404064 -
FARP1 Q9Y4F1 VAR_035851 p.Arg714Leu Unclassified - A breast cancer sample
FARP1 Q9Y4F1 VAR_048362 p.Pro8Leu Polymorphism rs9300466 -
FARP2 O94887 VAR_048363 p.Lys185Asn Polymorphism rs16843643 -
FARP2 O94887 VAR_048364 p.Thr260Ile Polymorphism rs757978 -
FARP2 O94887 VAR_048365 p.Val643Ile Polymorphism rs41342147 -
FARS2 O95363 VAR_052642 p.Ser57Cys Polymorphism rs34382405 -
FARS2 O95363 VAR_052643 p.Asn280Ser Polymorphism rs11243011 -
FARSA Q9Y285 VAR_052641 p.Gln341Arg Polymorphism rs35087277 -
FAS P25445 VAR_013416 p.Ala25Thr Unclassified - Non-Hodgkin lymphoma
FAS P25445 VAR_013417 p.Thr28Ala Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013418 p.Cys82Arg Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013419 p.Arg121Trp Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013420 p.Leu180Phe Unclassified - Non-Hodgkin lymphoma
FAS P25445 VAR_013421 p.Pro183Leu Unclassified - Non-Hodgkin lymphoma
FAS P25445 VAR_013422 p.Thr198Ile Unclassified - Non-Hodgkin lymphoma
FAS P25445 VAR_013423 p.Tyr232Cys Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013424 p.Thr241Lys Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013425 p.Thr241Pro Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013426 p.Arg250Pro Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013427 p.Arg250Gln Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013428 p.Ala257Asp Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013429 p.Asp260Gly Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013430 p.Asp260Tyr Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013431 p.Asp260Val Disease rs28929498 Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013432 p.Asn264Lys Unclassified - Non-Hodgkin lymphoma
FAS P25445 VAR_013433 p.Thr270Ile Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013434 p.Glu272Gly Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013435 p.Glu272Lys Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_013436 p.Leu278Phe Unclassified - Non-Hodgkin lymphoma
FAS P25445 VAR_013437 p.Lys299Asn Unclassified - Non-Hodgkin lymphoma
FAS P25445 VAR_013438 p.Ile310Ser Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_018321 p.Asn118Ser Unclassified - Squamous cell carcinoma
FAS P25445 VAR_018322 p.Cys178Arg Unclassified - Squamous cell carcinoma
FAS P25445 VAR_018323 p.Asn255Asp Unclassified - Squamous cell carcinoma
FAS P25445 VAR_020008 p.Ala16Thr Polymorphism rs3218619 -
FAS P25445 VAR_020009 p.Thr122Ile Polymorphism rs3218614 -
FAS P25445 VAR_020942 p.Thr305Ile Polymorphism rs3218611 -
FAS P25445 VAR_052347 p.Ile184Val Polymorphism rs28362322 -
FAS P25445 VAR_058910 p.Ile262Ser Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_065128 p.Val249Leu Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_065129 p.Gly253Asp Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_065130 p.Gly253Ser Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_065131 p.Ile259Arg Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FAS P25445 VAR_065132 p.Thr270Lys Disease - Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
FASLG P48023 VAR_052583 p.Tyr189Ser Polymorphism rs12079514 -
FASN P49327 VAR_055479 p.Val1483Ile Polymorphism rs2228305 -
FASN P49327 VAR_055480 p.Arg1694His Polymorphism rs2229424 -
FASN P49327 VAR_055481 p.Ile1888Val Polymorphism rs2228307 -
FASTK Q14296 VAR_021970 p.Ala436Val Polymorphism rs2288648 -
FASTK Q14296 VAR_042200 p.Val424Leu Unclassified - A lung adenocarcinoma sample
FASTKD1 Q53R41 VAR_031806 p.Glu384Gln Polymorphism rs12618227 -
FASTKD1 Q53R41 VAR_031807 p.Cys446Gly Polymorphism rs35106223 -
FASTKD1 Q53R41 VAR_031808 p.Met467Val Polymorphism rs2253680 -
FASTKD2 Q9NYY8 VAR_053889 p.Ser15Asn Polymorphism rs3762568 -
FASTKD2 Q9NYY8 VAR_053890 p.Val445Glu Polymorphism rs13003768 -
FASTKD3 Q14CZ7 VAR_031809 p.Lys56Arg Polymorphism rs2966952 -
FASTKD3 Q14CZ7 VAR_031810 p.Glu459Gly Polymorphism rs16879259 -
FASTKD3 Q14CZ7 VAR_036161 p.Leu22Val Unclassified - A breast cancer sample
FASTKD3 Q14CZ7 VAR_057769 p.Leu3Phe Polymorphism rs3733782 -
FASTKD5 Q7L8L6 VAR_053891 p.Arg256Cys Polymorphism rs3746700 -
FASTKD5 Q7L8L6 VAR_053892 p.Ile288Thr Polymorphism rs2422857 -
FASTKD5 Q7L8L6 VAR_053893 p.Ile377Val Polymorphism rs3746699 -
FAT1 Q14517 VAR_055590 p.Ala131Val Polymorphism rs3733415 -
FAT1 Q14517 VAR_055591 p.Asn1330Ser Polymorphism rs874111 -
FAT1 Q14517 VAR_055592 p.Ala1564Thr Polymorphism rs2304867 -
FAT1 Q14517 VAR_055593 p.Asn1605Asp Polymorphism rs6836935 -
FAT1 Q14517 VAR_055594 p.Pro3800His Polymorphism rs11731738 -
FAT2 Q9NYQ8 VAR_055595 p.Gly201Ala Polymorphism rs11739693 -
FAT2 Q9NYQ8 VAR_055596 p.Pro248Ser Polymorphism rs3734061 -
FAT2 Q9NYQ8 VAR_055597 p.Arg574Cys Polymorphism rs1432862 -
FAT2 Q9NYQ8 VAR_055598 p.Phe686Ser Polymorphism rs9324700 -
FAT2 Q9NYQ8 VAR_055599 p.Arg992Gln Polymorphism rs3734056 -
FAT2 Q9NYQ8 VAR_055600 p.Gly1004Ser Polymorphism rs3734055 -
FAT2 Q9NYQ8 VAR_055601 p.Pro1164Leu Polymorphism rs2304053 -
FAT2 Q9NYQ8 VAR_055602 p.Val1462Met Polymorphism rs2278371 -
FAT2 Q9NYQ8 VAR_055603 p.Gly1515Ser Polymorphism rs2278370 -
FAT2 Q9NYQ8 VAR_055604 p.Gly1571Ser Polymorphism rs10044879 -
FAT2 Q9NYQ8 VAR_055605 p.Arg1895Trp Polymorphism rs34464977 -
FAT2 Q9NYQ8 VAR_055606 p.Gly2054Ala Polymorphism rs34493925 -
FAT2 Q9NYQ8 VAR_055607 p.Ala2907Thr Polymorphism rs3734053 -
FAT2 Q9NYQ8 VAR_055608 p.Arg3318Gln Polymorphism rs7718054 -
FAT2 Q9NYQ8 VAR_055609 p.Arg3318Trp Polymorphism rs2304024 -
FAT2 Q9NYQ8 VAR_055610 p.Leu3514Ser Polymorphism rs2053028 -
FAT2 Q9NYQ8 VAR_055611 p.Met3631Ile Polymorphism rs6650971 -
FAT2 Q9NYQ8 VAR_055612 p.Ala3664Gly Polymorphism rs35963695 -
FAT2 Q9NYQ8 VAR_055613 p.Gln3953His Polymorphism rs2304029 -
FAT2 Q9NYQ8 VAR_055614 p.Pro4117Leu Polymorphism rs1105168 -
FAT2 Q9NYQ8 VAR_058286 p.Leu1295Pro Polymorphism rs35640822 -
FAT2 Q9NYQ8 VAR_061076 p.Tyr1181His Polymorphism rs6872614 -
FAT2 Q9NYQ8 VAR_061077 p.Phe2428Ser Polymorphism rs6892335 -
FAT3 Q8TDW7 VAR_039851 p.Ser412Phe Polymorphism rs10830902 -
FAT3 Q8TDW7 VAR_039852 p.Ile462Val Polymorphism rs16917409 -
FAT3 Q8TDW7 VAR_039853 p.Val1167Gly Polymorphism rs11821058 -
FAT3 Q8TDW7 VAR_039854 p.Gln1726Arg Polymorphism rs7949157 -
FAT3 Q8TDW7 VAR_039855 p.Asn2293Ser Polymorphism rs16918105 -
FAT3 Q8TDW7 VAR_039856 p.Val2622Phe Polymorphism rs17615477 -
FAT3 Q8TDW7 VAR_039857 p.Ile2755Val Polymorphism rs3847531 -
FAT3 Q8TDW7 VAR_039858 p.Val3518Leu Polymorphism rs10765565 -
FAT3 Q8TDW7 VAR_039859 p.Ser3812Gly Polymorphism rs4753069 -
FAT4 Q6V0I7 VAR_039860 p.Asp2826Asn Polymorphism rs12508222 -
FAT4 Q6V0I7 VAR_039861 p.Gly3524Asp Polymorphism rs1567047 -
FAT4 Q6V0I7 VAR_039862 p.Lys3828Glu Polymorphism rs17009684 -
FAT4 Q6V0I7 VAR_039863 p.Ser3873Asn Polymorphism rs12650153 -
FAT4 Q6V0I7 VAR_039864 p.Glu4374Lys Polymorphism rs11942361 -
FAT4 Q6V0I7 VAR_039865 p.Pro4972Ser Polymorphism rs1014867 -
FAT4 Q6V0I7 VAR_039866 p.Ala4977Thr Polymorphism rs17009858 -
FAT4 Q6V0I7 VAR_048580 p.Gln453Leu Polymorphism rs6847454 -
FAT4 Q6V0I7 VAR_048581 p.Ala807Val Polymorphism rs1039808 -
FATE1 Q969F0 VAR_016917 p.Ala10Val Polymorphism rs3810715 -
FATE1 Q969F0 VAR_016918 p.Ile34Thr Unclassified - -
FATE1 Q969F0 VAR_016919 p.Ser125Arg Unclassified - -
FAU P35544 VAR_019644 p.Thr53Ile Polymorphism rs13807 -
FAU P62861 VAR_019643 p.Val19Met Polymorphism - -
FBF1 Q8TES7 VAR_034659 p.Gly65Val Polymorphism rs1135889 -
FBF1 Q8TES7 VAR_034660 p.Arg151Gly Polymorphism rs2305913 -
FBF1 Q8TES7 VAR_034661 p.Pro371Ser Polymorphism rs7218738 -
FBF1 Q8TES7 VAR_034662 p.Cys574Ser Polymorphism rs7213548 -
FBLIM1 Q8WUP2 VAR_022842 p.Ser191Phe Polymorphism rs10927851 -
FBLIM1 Q8WUP2 VAR_050145 p.Arg39Cys Polymorphism rs34375304 -
FBLN1 P23142 VAR_015650 p.Gln141Arg Polymorphism rs136730 -
FBLN1 P23142 VAR_055720 p.Cys509Ser Polymorphism rs1802787 -
FBLN1 P23142 VAR_055721 p.His695Arg Polymorphism rs13268 -
FBLN2 P98095 VAR_055722 p.Gly1114Arg Polymorphism rs1061375 -
FBLN2 P98095 VAR_059266 p.Ser361Gly Polymorphism rs3732666 -
FBLN2 P98095 VAR_059267 p.Asn387Thr Polymorphism rs3796318 -
FBLN2 P98095 VAR_059268 p.Thr854Ala Polymorphism rs9843344 -
FBLN2 P98095 VAR_061159 p.Ile45Val Polymorphism rs60850813 -
FBLN2 P98095 VAR_061160 p.His144Arg Polymorphism rs28587534 -
FBLN5 Q9UBX5 VAR_017153 p.Ser227Pro Disease rs28939370 Cutis laxa autosomal recessive type 1 (ARCL1) [MIM:219100]
FBLN5 Q9UBX5 VAR_019814 p.Val60Leu Disease rs28939371 Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
FBLN5 Q9UBX5 VAR_019815 p.Arg71Gln Disease rs28939372 Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
FBLN5 Q9UBX5 VAR_019816 p.Pro87Ser Disease rs28939373 Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
FBLN5 Q9UBX5 VAR_019817 p.Ile169Thr Disease rs28939072 Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
FBLN5 Q9UBX5 VAR_019818 p.Arg351Trp Disease rs28939073 Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
FBLN5 Q9UBX5 VAR_019819 p.Ala363Thr Disease - Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
FBLN5 Q9UBX5 VAR_019820 p.Gly412Glu Disease - Age-related macular degeneration type 3 (ARMD3) [MIM:608895]
FBLN5 Q9UBX5 VAR_026986 p.Asp364Tyr Polymorphism rs1802492 -
FBLN7 Q53RD9 VAR_037689 p.Val119Met Polymorphism rs35586251 -
FBN1 P35555 VAR_002276 p.Cys111Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002277 p.Arg122Cys Disease rs137854467 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002278 p.Cys129Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002279 p.Cys166Phe Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002280 p.Cys166Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002281 p.Trp217Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002282 p.Cys476Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002283 p.Asp490Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002284 p.Arg545Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002285 p.Asn548Ile Disease rs137854462 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002286 p.Cys587Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002287 p.Arg627Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002288 p.Cys661Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002289 p.Ala705Thr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002290 p.Cys711Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002291 p.Asp723Ala Disease rs137854463 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002292 p.Tyr746Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002293 p.Cys750Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002294 p.Cys862Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002295 p.Cys926Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002296 p.Val984Ile Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002297 p.Cys996Arg Disease rs140592 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002298 p.Gly1013Arg Disease rs140593 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002299 p.Lys1023Asn Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002300 p.Lys1043Arg Disease rs137854472 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002301 p.Ile1048Thr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002303 p.Cys1053Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002304 p.Cys1055Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002306 p.Asp1072Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002307 p.Glu1073Lys Disease rs137854478 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002308 p.Cys1074Arg Disease rs137854465 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002309 p.Cys1086Trp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002310 p.Cys1117Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002311 p.Cys1117Tyr Disease rs137854470 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002312 p.Gly1127Ser Polymorphism rs137854468 -
FBN1 P35555 VAR_002313 p.Asn1131Tyr Disease rs137854473 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002314 p.Arg1137Pro Disease rs137854456 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002315 p.Pro1148Ala Polymorphism rs140598 -
FBN1 P35555 VAR_002316 p.Cys1153Tyr Disease rs140599 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002317 p.Asp1155Asn Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002318 p.Arg1170His Disease rs137854475 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002319 p.Cys1171Trp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002320 p.Asn1173Lys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002321 p.Cys1223Tyr Disease rs137854469 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002321 p.Cys1223Tyr Disease rs137854469 Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]
FBN1 P35555 VAR_002322 p.Cys1242Tyr Disease rs137854471 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002323 p.Cys1249Ser Disease rs137854458 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002324 p.Asn1382Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002325 p.Asp1404Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002326 p.Cys1513Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002327 p.Cys1589Phe Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002328 p.Cys1610Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002329 p.Cys1663Arg Disease rs137854459 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002330 p.Pro1837Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002331 p.Asn1893Lys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002332 p.Cys1928Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002333 p.Cys2099Trp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002334 p.Cys2111Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002335 p.Asp2127Glu Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002336 p.Asn2144Ser Disease rs137854461 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002337 p.Cys2151Trp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002338 p.Cys2221Ser Disease rs137854460 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002339 p.Cys2258Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002340 p.Arg2282Trp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002341 p.Cys2307Ser Disease rs137854457 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002342 p.Glu2447Lys Disease rs137854464 Isolated ectopia lentis (EL) [MIM:129600]
FBN1 P35555 VAR_002343 p.Cys2489Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002344 p.Cys2511Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002345 p.His2623Pro Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002346 p.Gly2627Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002347 p.Arg2680Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_002348 p.Arg2726Trp Disease rs61746008 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_010776 p.Cys504Phe Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_010777 p.Cys1129Tyr Disease rs137854482 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_010778 p.Tyr1261Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_010779 p.Cys1833Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_010780 p.Cys2142Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_014663 p.Ala27Thr Polymorphism rs25397 -
FBN1 P35555 VAR_017967 p.Arg62Cys Disease rs25403 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017968 p.Cys89Phe Disease rs112660651 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017969 p.Arg114Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017970 p.Ser115Cys Disease - Isolated ectopia lentis (EL) [MIM:129600]
FBN1 P35555 VAR_017971 p.Cys154Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017972 p.Arg240Cys Disease rs137854480 Isolated ectopia lentis (EL) [MIM:129600]
FBN1 P35555 VAR_017972 p.Arg240Cys Disease rs137854480 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017973 p.Trp366Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017974 p.Gly560Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017975 p.Cys570Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017976 p.Gly592Asp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017977 p.Cys596Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017978 p.Cys598Trp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017979 p.Cys652Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017980 p.Asp654Asn Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017981 p.Cys661Tyr Disease - Isolated ectopia lentis (EL) [MIM:129600]
FBN1 P35555 VAR_017982 p.Ser681Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017983 p.Cys683Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017984 p.Cys685Trp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017985 p.Asp723Val Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017986 p.Cys734Phe Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017987 p.Cys748Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017988 p.Cys776Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017989 p.Cys776Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017990 p.Cys781Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017991 p.Cys816Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017992 p.Cys890Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017993 p.Cys908Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017994 p.Glu913Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017995 p.Cys921Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017996 p.Gly985Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017997 p.Cys1044Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017998 p.Cys1055Trp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_017999 p.Cys1055Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018000 p.Tyr1101Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018001 p.Val1128Ile Unclassified - -
FBN1 P35555 VAR_018002 p.Glu1200Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018003 p.Glu1325Gln Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018004 p.Ala1337Pro Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018005 p.Cys1339Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018006 p.Glu1366Lys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018007 p.Cys1374Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018008 p.Cys1389Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018010 p.Pro1424Ala Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018011 p.Cys1429Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018012 p.Arg1530Cys Polymorphism rs111401431 -
FBN1 P35555 VAR_018013 p.Cys1564Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018015 p.Cys1770Phe Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018016 p.Arg1790Pro Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018017 p.Cys1791Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018018 p.Cys1793Trp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018019 p.Gly1796Glu Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018020 p.Cys1806Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018021 p.Cys1835Tyr Disease rs111929350 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018022 p.Ile1909Thr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018023 p.Arg1915Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018025 p.Cys1971Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018026 p.Cys1977Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018027 p.Cys1998Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018028 p.Thr2101Met Polymorphism - -
FBN1 P35555 VAR_018029 p.Cys2111Arg Disease rs363815 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018030 p.Pro2154Arg Disease - Isolated ectopia lentis (EL) [MIM:129600]
FBN1 P35555 VAR_018031 p.Cys2221Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018032 p.Asn2223His Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018033 p.Ile2269Thr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018034 p.Arg2335Trp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018035 p.Cys2339Tyr Disease - Isolated ectopia lentis (EL) [MIM:129600]
FBN1 P35555 VAR_018036 p.Cys2406Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018037 p.Cys2442Trp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018038 p.Tyr2474Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018039 p.Cys2581Phe Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018040 p.Ile2585Thr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018041 p.Gly2618Arg Disease rs141133182 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018042 p.Asn2624Lys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018043 p.Cys2652Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018044 p.Gly2668Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018319 p.Gly985Glu Disease rs137854477 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_018320 p.Cys1265Arg Disease rs137854474 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023859 p.Tyr20Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023860 p.Cys123Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023861 p.Cys177Arg Disease rs363853 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023862 p.Cys224Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023863 p.Arg439Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023865 p.Cys541Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023866 p.Cys628Lys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023868 p.Tyr635Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023869 p.Arg636Ile Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023870 p.Cys781Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023871 p.Cys832Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023872 p.Cys890Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023873 p.Gly1058Asp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023874 p.Asp1113Val Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023875 p.Cys1153Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023877 p.Tyr1219Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023878 p.Tyr1261Asp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023879 p.Cys1278Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023880 p.Cys1284Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023881 p.Cys1333Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023882 p.Cys1402Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023883 p.Pro1424Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023884 p.Gly1475Glu Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023885 p.Gly1475Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023886 p.Cys1564Phe Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023887 p.Met1576Thr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023888 p.Cys1631Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023889 p.Cys1663Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023890 p.Cys1791Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023891 p.Cys1806Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023892 p.Cys1876Tyr Disease rs112728248 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023893 p.Thr1887Ile Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023894 p.Cys1895Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023895 p.Cys1900Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023896 p.Cys1928Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023897 p.Cys1928Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023898 p.Cys2038Tyr Disease rs363804 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023899 p.Cys2085Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023900 p.Ala2160Pro Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023901 p.Cys2221Phe Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023902 p.Cys2251Arg Disease rs112836174 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023903 p.Ala2385Thr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023904 p.Cys2500Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023905 p.Cys2500Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023906 p.Cys2535Trp Disease rs113544411 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023907 p.Gly2536Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023908 p.Glu2570Lys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023909 p.Cys2571Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023910 p.Cys2592Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023911 p.Cys2605Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023912 p.Cys2605Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023913 p.Glu2610Lys Disease rs111984349 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023914 p.Tyr2629Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_023915 p.Cys2663Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_055723 p.His133Gln Polymorphism rs363850 -
FBN1 P35555 VAR_055724 p.Ile329Thr Polymorphism rs12324002 -
FBN1 P35555 VAR_055725 p.Gly363Ser Polymorphism rs363855 -
FBN1 P35555 VAR_055726 p.Ile1048Val Polymorphism rs2229324 -
FBN1 P35555 VAR_055727 p.Asp1113Gly Polymorphism rs140597 -
FBN1 P35555 VAR_055728 p.Asn1282Ser Polymorphism rs140647 -
FBN1 P35555 VAR_055729 p.Cys1672Phe Polymorphism rs140627 -
FBN1 P35555 VAR_055730 p.Val2018Ile Polymorphism rs363802 -
FBN1 P35555 VAR_055731 p.Cys2053Phe Polymorphism rs363805 -
FBN1 P35555 VAR_055732 p.Tyr2113Phe Polymorphism rs363816 -
FBN1 P35555 VAR_055733 p.Cys2170Phe Polymorphism rs363821 -
FBN1 P35555 VAR_055734 p.Pro2278Ser Polymorphism rs363835 -
FBN1 P35555 VAR_055735 p.Asp2329Glu Polymorphism rs363831 -
FBN1 P35555 VAR_058090 p.Cys472Tyr Polymorphism rs4775765 -
FBN1 P35555 VAR_064046 p.Cys1564Ser Disease - Stiff skin syndrome (SSKS) [MIM:184900]
FBN1 P35555 VAR_064047 p.Trp1570Cys Disease - Stiff skin syndrome (SSKS) [MIM:184900]
FBN1 P35555 VAR_064048 p.Cys1577Gly Disease - Stiff skin syndrome (SSKS) [MIM:184900]
FBN1 P35555 VAR_064049 p.Gly1594Asp Disease - Stiff skin syndrome (SSKS) [MIM:184900]
FBN1 P35555 VAR_064503 p.Cys1068Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065981 p.Cys80Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065982 p.Cys499Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065983 p.Cys611Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065984 p.Cys617Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065985 p.Cys685Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065986 p.Cys790Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065987 p.Cys811Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065988 p.Cys853Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065989 p.Cys926Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065990 p.Pro1090Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065991 p.Gly1185Asp Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065992 p.Cys1284Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065993 p.Cys1350Phe Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065994 p.Thr1401Ala Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065995 p.Cys1431Trp Disease rs112375043 Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065996 p.Cys1431Tyr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065997 p.Ser1481Gly Polymorphism rs61730054 -
FBN1 P35555 VAR_065998 p.Asp1487Ala Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_065999 p.Asn1489Lys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_066000 p.Gly1838Cys Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_066001 p.Cys1934Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_066002 p.Glu1976Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_066003 p.Cys1984Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_066004 p.Asp2166Asn Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_066005 p.Ile2185Thr Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_066006 p.Asp2247Gly Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_066007 p.Cys2318Arg Polymorphism rs111588631 -
FBN1 P35555 VAR_066008 p.Cys2442Ser Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_066010 p.Cys2646Arg Disease - Marfan syndrome (MFS) [MIM:154700]
FBN1 P35555 VAR_066011 p.Tyr2793His Polymorphism rs113722038 -
FBN1 P35555 VAR_066527 p.Tyr1696Cys Disease - Geleophysic dysplasia type 2 (GPHYSD2) [MIM:614185]
FBN1 P35555 VAR_066528 p.Tyr1699Cys Disease - Acromicric dysplasia (ACMICD) [MIM:102370]
FBN1 P35555 VAR_066528 p.Tyr1699Cys Disease - Geleophysic dysplasia type 2 (GPHYSD2) [MIM:614185]
FBN1 P35555 VAR_066529 p.Tyr1699Asp Disease - Geleophysic dysplasia type 2 (GPHYSD2) [MIM:614185]
FBN1 P35555 VAR_066530 p.Tyr1700Cys Disease - Acromicric dysplasia (ACMICD) [MIM:102370]
FBN1 P35555 VAR_066531 p.Cys1706Tyr Disease - Geleophysic dysplasia type 2 (GPHYSD2) [MIM:614185]
FBN1 P35555 VAR_066532 p.Met1714Arg Disease - Acromicric dysplasia (ACMICD) [MIM:102370]
FBN1 P35555 VAR_066533 p.Cys1719Trp Disease - Geleophysic dysplasia type 2 (GPHYSD2) [MIM:614185]
FBN1 P35555 VAR_066534 p.Ser1722Cys Disease - Acromicric dysplasia (ACMICD) [MIM:102370]
FBN1 P35555 VAR_066535 p.Gly1726Val Disease - Acromicric dysplasia (ACMICD) [MIM:102370]
FBN1 P35555 VAR_066536 p.Ala1728Thr Disease - Acromicric dysplasia (ACMICD) [MIM:102370]
FBN1 P35555 VAR_066536 p.Ala1728Thr Disease - Geleophysic dysplasia type 2 (GPHYSD2) [MIM:614185]
FBN1 P35555 VAR_066537 p.Ala1728Val Disease - Geleophysic dysplasia type 2 (GPHYSD2) [MIM:614185]
FBN1 P35555 VAR_066538 p.Cys1733Tyr Disease - Geleophysic dysplasia type 2 (GPHYSD2) [MIM:614185]
FBN1 P35555 VAR_066540 p.Ser1750Arg Disease - Acromicric dysplasia (ACMICD) [MIM:102370]
FBN1 P35555 VAR_066541 p.Asp1758Val Disease - Acromicric dysplasia (ACMICD) [MIM:102370]
FBN1 P35555 VAR_066542 p.Gly1762Ser Disease - Geleophysic dysplasia type 2 (GPHYSD2) [MIM:614185]
FBN2 P35556 VAR_002349 p.Val965Ile Polymorphism rs154001 -
FBN2 P35556 VAR_002350 p.Cys1253Tyr Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_002351 p.Cys1434Ser Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_010739 p.Asp1115His Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_010740 p.Cys1142Phe Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_010741 p.Cys1253Trp Disease rs28931602 Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_014664 p.Ser2771Pro Polymorphism rs1801170 -
FBN2 P35556 VAR_015851 p.Glu391Lys Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_016143 p.Pro2428Thr Polymorphism rs1801169 -
FBN2 P35556 VAR_054979 p.Thr594Ser Polymorphism - -
FBN2 P35556 VAR_054980 p.Arg681His Polymorphism - -
FBN2 P35556 VAR_054981 p.Gly1057Asp Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_054982 p.Ile1093Thr Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_054983 p.Gly1179Cys Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_054984 p.Cys1198Tyr Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_054985 p.Cys1240Arg Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_054986 p.Cys1257Trp Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_054987 p.Cys1268Arg Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_054988 p.Trp1772Gly Polymorphism - -
FBN2 P35556 VAR_054989 p.Phe2266Leu Polymorphism - -
FBN2 P35556 VAR_054990 p.Leu2581Ser Polymorphism rs2291628 -
FBN2 P35556 VAR_055415 p.Thr2278Met Polymorphism rs2307109 -
FBN2 P35556 VAR_055416 p.Met2311Val Polymorphism rs32209 -
FBN2 P35556 VAR_055417 p.Ser2580Leu Polymorphism rs2291628 -
FBN2 P35556 VAR_058364 p.Gly754Ser Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_058365 p.Asn1091Ser Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_058366 p.Ser1122Pro Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_058367 p.Cys1142Arg Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_058368 p.Tyr1146Cys Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_058369 p.Cys1156Phe Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_058370 p.Glu1161Lys Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_058371 p.Cys1246Phe Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_058372 p.Cys1384Phe Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_058373 p.Cys1384Tyr Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_058374 p.Asp1408Asn Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_058375 p.Cys1425Arg Disease - Distal arthrogryposis type 9 (DA9) [MIM:121050]
FBN2 P35556 VAR_064705 p.Glu2062Val Unclassified - -
FBN3 Q75N90 VAR_019493 p.Gly119Ala Polymorphism rs3813773 -
FBN3 Q75N90 VAR_019494 p.Arg473Gln Polymorphism rs35277492 -
FBN3 Q75N90 VAR_019495 p.Asp662Asn Polymorphism rs4804271 -
FBN3 Q75N90 VAR_019496 p.Arg935Leu Polymorphism - -
FBN3 Q75N90 VAR_019497 p.Val938Phe Polymorphism - -
FBN3 Q75N90 VAR_019498 p.Arg1083Trp Polymorphism rs35579498 -
FBN3 Q75N90 VAR_019499 p.Ser1293Asn Polymorphism rs4804063 -
FBN3 Q75N90 VAR_019500 p.Val1326Ile Polymorphism rs12975322 -
FBN3 Q75N90 VAR_019501 p.Gly1614Ser Polymorphism rs33967815 -
FBN3 Q75N90 VAR_019502 p.Arg1806Gln Polymorphism rs3829817 -
FBN3 Q75N90 VAR_019503 p.Asn1869Lys Polymorphism rs12150963 -
FBN3 Q75N90 VAR_019504 p.Leu1904Pro Polymorphism rs12608849 -
FBN3 Q75N90 VAR_019505 p.Pro1958His Polymorphism rs7245429 -
FBN3 Q75N90 VAR_019506 p.Glu2610Asp Polymorphism rs7257948 -
FBN3 Q75N90 VAR_055736 p.Pro329Leu Polymorphism rs7246376 -
FBN3 Q75N90 VAR_055737 p.Met371Ile Polymorphism rs35999680 -
FBN3 Q75N90 VAR_055738 p.Val542Ile Polymorphism rs36124795 -
FBN3 Q75N90 VAR_055739 p.Asp868Asn Polymorphism rs35025963 -
FBN3 Q75N90 VAR_055740 p.Gln1209Arg Polymorphism rs34684510 -
FBN3 Q75N90 VAR_055741 p.Ser1293Gly Polymorphism rs4804063 -
FBN3 Q75N90 VAR_055742 p.Asn1431Ile Polymorphism rs17160194 -
FBN3 Q75N90 VAR_055743 p.Glu1850Lys Polymorphism rs10404519 -
FBN3 Q75N90 VAR_055744 p.Leu1904Phe Polymorphism rs12608849 -
FBN3 Q75N90 VAR_055745 p.Thr1939Asn Polymorphism rs7245558 -
FBN3 Q75N90 VAR_055746 p.His1966Asp Polymorphism rs34167077 -
FBN3 Q75N90 VAR_055747 p.Asn2005Thr Polymorphism rs17202741 -
FBN3 Q75N90 VAR_055748 p.Ser2314Asn Polymorphism rs17160151 -
FBN3 Q75N90 VAR_055749 p.Arg2471His Polymorphism rs3848570 -
FBN3 Q75N90 VAR_055750 p.His2540Gln Polymorphism rs35477781 -
FBN3 Q75N90 VAR_055751 p.Val2594Ile Polymorphism rs35318692 -
FBP1 P09467 VAR_002380 p.Gly164Ser Disease - Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]
FBP1 P09467 VAR_002381 p.Ala177Asp Disease - Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]
FBP1 P09467 VAR_002382 p.Val325Ala Polymorphism - -
FBP1 P09467 VAR_022212 p.Arg218Lys Polymorphism rs1769259 -
FBP1 P09467 VAR_022213 p.Phe233Ile Polymorphism rs2297085 -
FBP1 P09467 VAR_022214 p.Arg255Leu Polymorphism rs28369761 -
FBP1 P09467 VAR_038812 p.Phe194Ser Disease - Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]
FBP1 P09467 VAR_038813 p.Pro284Arg Disease - Fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]
FBP2 O00757 VAR_024448 p.Val86Leu Polymorphism rs573212 -
FBRSL1 Q9HCM7 VAR_039390 p.Leu367Pro Polymorphism rs3751315 -
FBXL12 Q9NXK8 VAR_064712 p.Leu63His Unclassified - -
FBXL13 Q8NEE6 VAR_021480 p.Ile74Met Polymorphism rs7805950 -
FBXL13 Q8NEE6 VAR_031426 p.Gly313Ala Polymorphism rs17135923 -
FBXL13 Q8NEE6 VAR_031427 p.Ile535Val Polymorphism rs17135873 -
FBXL13 Q8NEE6 VAR_031428 p.Tyr565Cys Polymorphism rs17136118 -
FBXL13 Q8NEE6 VAR_031429 p.Asp692Gly Polymorphism rs17852944 -
FBXL14 Q8N1E6 VAR_049033 p.Leu220Val Polymorphism rs35571553 -
FBXL16 Q8N461 VAR_028163 p.Leu429Pro Polymorphism rs17855603 -
FBXL18 Q96ME1 VAR_055800 p.Asn552Lys Polymorphism rs33941092 -
FBXL2 Q9UKC9 VAR_036071 p.Val226Met Unclassified - A colorectal cancer sample
FBXL21 Q9UKT6 VAR_049034 p.Phe76Leu Polymorphism rs7705168 -
FBXL21 Q9UKT6 VAR_049035 p.Pro209Leu Polymorphism rs40986 -
FBXL22 Q6P050 VAR_033940 p.Val109Leu Polymorphism rs8035931 -
FBXO10 Q9UK96 VAR_055801 p.His212Asn Polymorphism rs7044561 -
FBXO11 Q86XK2 VAR_024441 p.Thr126Ser Polymorphism rs17036993 -
FBXO15 Q8NCQ5 VAR_049040 p.Tyr420His Polymorphism rs35815390 -
FBXO16 Q8IX29 VAR_020409 p.Arg75Gln Polymorphism rs3735726 -
FBXO16 Q8IX29 VAR_024442 p.Met254Ile Polymorphism rs1390963 -
FBXO16 Q8IX29 VAR_049041 p.Thr255Asn Polymorphism rs7016831 -
FBXO2 Q9UK22 VAR_049036 p.Lys118Thr Polymorphism rs9614 -
FBXO21 O94952 VAR_047919 p.Asn180Thr Polymorphism rs11556202 -
FBXO24 O75426 VAR_049042 p.Arg302His Polymorphism rs7801492 -
FBXO25 Q8TCJ0 VAR_049043 p.Asn36Asp Polymorphism rs17665340 -
FBXO25 Q8TCJ0 VAR_061167 p.Arg38His Polymorphism rs10090550 -
FBXO28 Q9NVF7 VAR_064713 p.Pro345His Unclassified - -
FBXO3 Q9UK99 VAR_049037 p.Val221Ile Polymorphism rs1402954 -
FBXO30 Q8TB52 VAR_020410 p.His583Gln Polymorphism rs3811102 -
FBXO30 Q8TB52 VAR_024443 p.Val375Met Polymorphism rs9373475 -
FBXO30 Q8TB52 VAR_036072 p.Ser8Cys Unclassified - A colorectal cancer sample
FBXO30 Q8TB52 VAR_049044 p.Ser382Cys Polymorphism rs17075385 -
FBXO32 Q969P5 VAR_049045 p.Asn56Ser Polymorphism rs6988591 -
FBXO32 Q969P5 VAR_049046 p.Gly89Ala Polymorphism rs11786471 -
FBXO34 Q9NWN3 VAR_021489 p.Ile470Asn Polymorphism rs1045002 -
FBXO34 Q9NWN3 VAR_021490 p.Leu533Pro Polymorphism rs3742569 -
FBXO34 Q9NWN3 VAR_049047 p.Val432Ala Polymorphism rs35070799 -
FBXO34 Q9NWN3 VAR_049048 p.Gly704Val Polymorphism rs10138395 -
FBXO36 Q8NEA4 VAR_045626 p.Leu86Phe Polymorphism rs1035834 -
FBXO38 Q6PIJ6 VAR_028099 p.Ser592Pro Polymorphism rs10043775 -
FBXO38 Q6PIJ6 VAR_049049 p.Ala894Thr Polymorphism rs11949133 -
FBXO39 Q8N4B4 VAR_024444 p.Pro10Ser Polymorphism rs4796555 -
FBXO39 Q8N4B4 VAR_024445 p.Leu231Phe Polymorphism rs1509123 -
FBXO39 Q8N4B4 VAR_024446 p.Ile363Met Polymorphism rs7213731 -
FBXO39 Q8N4B4 VAR_049050 p.Tyr166Cys Polymorphism rs16956264 -
FBXO39 Q8N4B4 VAR_049051 p.Ser221Thr Polymorphism rs4143218 -
FBXO4 Q9UKT5 VAR_063500 p.Ser8Arg Unclassified - Esophagus cancer samples
FBXO4 Q9UKT5 VAR_063501 p.Ser12Leu Unclassified - Esophagus cancer sample
FBXO4 Q9UKT5 VAR_063502 p.Pro13Ser Unclassified - Esophagus cancer sample
FBXO4 Q9UKT5 VAR_063503 p.Leu23Gln Unclassified - Esophagus cancer samples
FBXO4 Q9UKT5 VAR_063504 p.Pro76Thr Unclassified - Esophagus cancer samples
FBXO40 Q9UH90 VAR_030005 p.Val87Ala Polymorphism rs4676684 -
FBXO42 Q6P3S6 VAR_024447 p.Pro471Ala Polymorphism rs12069239 -
FBXO43 Q4G163 VAR_061168 p.Pro139Leu Polymorphism rs2279102 -
FBXO43 Q4G163 VAR_061169 p.Pro139Arg Polymorphism rs2279102 -
FBXO47 Q5MNV8 VAR_049052 p.Gln209Arg Polymorphism rs9906595 -
FBXO48 Q5FWF7 VAR_043466 p.Thr16Ile Polymorphism rs12614904 -
FBXO5 Q9UKT4 VAR_024440 p.Gln107Glu Polymorphism rs2073260 -
FBXO5 Q9UKT4 VAR_049038 p.Leu164Phe Polymorphism rs7763565 -
FBXO6 Q9NRD1 VAR_022158 p.Pro201Thr Polymorphism rs2294639 -
FBXO6 Q9NRD1 VAR_049039 p.Arg60Gln Polymorphism rs3125818 -
FBXO7 Q9Y3I1 VAR_021408 p.Met115Ile Polymorphism rs11107 -
FBXO7 Q9Y3I1 VAR_047938 p.Arg378Gly Disease - Parkinson disease type 15 (PARK15) [MIM:260300]
FBXO7 Q9Y3I1 VAR_066022 p.Arg481Cys Unclassified - -
FBXO8 Q9NRD0 VAR_036157 p.Leu269Ile Unclassified - A breast cancer sample
FBXW10 Q5XX13 VAR_038341 p.Ile23Asn Polymorphism rs11544711 -
FBXW10 Q5XX13 VAR_038342 p.Ala821Thr Polymorphism rs1026259 -
FBXW10 Q5XX13 VAR_057600 p.Arg372Gly Polymorphism rs7209610 -
FBXW12 Q6X9E4 VAR_057601 p.Pro6Leu Polymorphism rs17080138 -
FBXW12 Q6X9E4 VAR_057602 p.Arg166Trp Polymorphism rs6442117 -
FBXW12 Q6X9E4 VAR_057603 p.Val273Asp Polymorphism rs6784322 -
FBXW5 Q969U6 VAR_053393 p.Glu340Lys Polymorphism rs7850438 -
FBXW7 Q969H0 VAR_017812 p.Glu115Lys Polymorphism rs6816935 -
FBXW7 Q969H0 VAR_017813 p.Arg133Gly Polymorphism rs6842544 -
FBXW7 Q969H0 VAR_017814 p.Thr144Arg Polymorphism rs7660281 -
FBXW7 Q969H0 VAR_017815 p.Arg465Cys Unclassified - A acute lymphoblastic leukemia cell line
FBXW7 Q969H0 VAR_017816 p.Arg505Leu Unclassified - An ovarian cancer cell line
FBXW7 Q969H0 VAR_017817 p.Ser668Gly Polymorphism rs7679116 -
FBXW7 Q969H0 VAR_033030 p.Glu117Lys Unclassified - A breast cancer sample
FBXW7 Q969H0 VAR_035880 p.Arg465His Unclassified - A colorectal cancer sample
FBXW7 Q969H0 VAR_035881 p.Ser582Leu Unclassified - A colorectal cancer sample
FBXW8 Q8N3Y1 VAR_057597 p.Thr211Ala Polymorphism rs36021180 -
FBXW8 Q8N3Y1 VAR_057598 p.Thr536Met Polymorphism rs3741466 -
FBXW8 Q8N3Y1 VAR_060326 p.Arg192Gln Polymorphism rs4076700 -
FBXW8 Q8N3Y1 VAR_062096 p.Val563Met Polymorphism rs56350562 -
FBXW9 Q5XUX1 VAR_057599 p.Arg70Lys Polymorphism rs6511833 -
FBXW9 Q5XUX1 VAR_062097 p.Thr219Ala Polymorphism rs10424623 -
FCAR P24071 VAR_049996 p.Asp113Asn Polymorphism rs11666735 -
FCAR P24071 VAR_049997 p.Ser269Gly Polymorphism rs16986050 -
FCER1A P12319 VAR_020091 p.Lys84Arg Polymorphism rs2298804 -
FCER1A P12319 VAR_020092 p.Ser101Asn Polymorphism rs2298805 -
FCER2 P06734 VAR_035387 p.Arg62Trp Polymorphism rs2228137 -
FCER2 P06734 VAR_035388 p.Arg284Gln Polymorphism rs8102872 -
FCGBP Q9Y6R7 VAR_028903 p.Val1340Leu Polymorphism rs11083543 -
FCGBP Q9Y6R7 VAR_028904 p.Gly1616Val Polymorphism rs7248839 -
FCGBP Q9Y6R7 VAR_028905 p.Met1617Val Polymorphism rs7249743 -
FCGBP Q9Y6R7 VAR_028906 p.Asn2089Asp Polymorphism rs885723 -
FCGBP Q9Y6R7 VAR_028907 p.Glu2646Asp Polymorphism rs2542320 -
FCGBP Q9Y6R7 VAR_028908 p.Glu2647Lys Polymorphism rs2542319 -
FCGBP Q9Y6R7 VAR_028909 p.Ala2793Val Polymorphism rs2542316 -
FCGBP Q9Y6R7 VAR_028910 p.Val2814Ala Polymorphism rs3746009 -
FCGBP Q9Y6R7 VAR_028911 p.Gly3264Ser Polymorphism rs6508919 -
FCGBP Q9Y6R7 VAR_028912 p.His3920Gln Polymorphism rs2542318 -
FCGBP Q9Y6R7 VAR_028913 p.Val4015Ala Polymorphism rs3746009 -
FCGBP Q9Y6R7 VAR_028914 p.Gly4095Asp Polymorphism rs1975181 -
FCGBP Q9Y6R7 VAR_028915 p.Gly4465Ser Polymorphism rs6508919 -
FCGBP Q9Y6R7 VAR_028916 p.Asp4906His Polymorphism rs3746013 -
FCGBP Q9Y6R7 VAR_054490 p.Val732Ala Polymorphism rs34181317 -
FCGBP Q9Y6R7 VAR_054491 p.Asn770Ser Polymorphism rs34939346 -
FCGBP Q9Y6R7 VAR_054492 p.Gly929Arg Polymorphism rs35338934 -
FCGBP Q9Y6R7 VAR_054493 p.Val971Met Polymorphism rs35922811 -
FCGBP Q9Y6R7 VAR_054494 p.Gly1019Arg Polymorphism rs34254649 -
FCGBP Q9Y6R7 VAR_054495 p.Pro1436Leu Polymorphism rs36106401 -
FCGBP Q9Y6R7 VAR_054496 p.His1445Asp Polymorphism rs2909229 -
FCGBP Q9Y6R7 VAR_054497 p.Thr1524Asn Polymorphism rs34938990 -
FCGBP Q9Y6R7 VAR_054498 p.Ala5017Val Polymorphism rs741143 -
FCGR1A P12314 VAR_019522 p.Leu105Pro Polymorphism rs619322 -
FCGR1C A6NKC4 VAR_042882 p.Pro105Leu Polymorphism rs619322 -
FCGR1C A6NKC4 VAR_042883 p.Thr115Met Polymorphism rs619366 -
FCGR1C A6NKC4 VAR_042884 p.Lys171Met Polymorphism rs658149 -
FCGR1C A6NKC4 VAR_042885 p.His175Arg Polymorphism rs658160 -
FCGR2A P12318 VAR_003955 p.His167Arg Polymorphism rs1801274 -
FCGR2A P12318 VAR_054857 p.Gln63Arg Polymorphism rs9427398 -
FCGR2A P12318 VAR_054858 p.Met140Val Polymorphism rs4986941 -
FCGR2A P12318 VAR_054859 p.Ile218Val Polymorphism rs17851834 -
FCGR2B P31994 VAR_008798 p.Tyr258Asp Polymorphism - -
FCGR2B P31994 VAR_015515 p.Ile232Thr Unclassified - -
FCGR2B P31994 VAR_027045 p.Tyr205Phe Polymorphism rs1050499 -
FCGR2B P31994 VAR_059430 p.Gln83Pro Polymorphism rs5017567 -
FCGR3A P08637 VAR_003960 p.Phe176Val Polymorphism rs396991 -
FCGR3A P08637 VAR_008799 p.Leu66Arg Polymorphism rs10127939 -
FCGR3A P08637 VAR_008800 p.Leu66His Polymorphism - -
FCGR3A P08637 VAR_058398 p.Gly147Asp Polymorphism rs443082 -
FCGR3A P08637 VAR_058399 p.Tyr158His Polymorphism rs396716 -
FCGR3A P08637 VAR_058400 p.Phe203Ser Polymorphism rs1042206 -
FCGR3B O75015 VAR_003956 p.Ser36Arg Polymorphism - -
FCGR3B O75015 VAR_003957 p.Asn82Asp Polymorphism - -
FCGR3B O75015 VAR_003963 p.Ser65Asn Polymorphism rs448740 -
FCGR3B O75015 VAR_003964 p.Ile106Val Polymorphism - -
FCGR3B O75015 VAR_008802 p.Ala78Asp Polymorphism rs5030738 -
FCHO2 Q0JRZ9 VAR_029636 p.Met371Val Polymorphism rs185435 -
FCHSD1 Q86WN1 VAR_030692 p.Asn344Lys Polymorphism rs3749760 -
FCHSD1 Q86WN1 VAR_030693 p.Pro681Leu Polymorphism rs32957 -
FCN1 O00602 VAR_024450 p.Tyr126His Polymorphism rs17549179 -
FCN1 O00602 VAR_036341 p.Tyr175Cys Unclassified - A colorectal cancer sample
FCN1 O00602 VAR_061172 p.Arg93Gln Polymorphism rs56345770 -
FCN2 Q15485 VAR_036342 p.Pro80Leu Unclassified - A colorectal cancer sample
FCN2 Q15485 VAR_049072 p.His113Tyr Polymorphism rs17549179 -
FCN2 Q15485 VAR_049073 p.Gly117Ser Polymorphism rs12684476 -
FCN2 Q15485 VAR_049074 p.Thr236Met Polymorphism rs17549193 -
FCN2 Q15485 VAR_049075 p.Ala258Ser Polymorphism rs7851696 -
FCRL1 Q96LA6 VAR_042923 p.Val124Met Polymorphism rs12078586 -
FCRL2 Q96LA5 VAR_049873 p.Ile202Asn Polymorphism rs16839100 -
FCRL3 Q96P31 VAR_042924 p.Asn28Asp Polymorphism rs7522061 -
FCRL3 Q96P31 VAR_042925 p.Leu307Phe Polymorphism rs12041673 -
FCRL3 Q96P31 VAR_042926 p.His445Asn Unclassified - A breast cancer sample
FCRL3 Q96P31 VAR_042927 p.Pro660Leu Polymorphism rs944627 -
FCRL3 Q96P31 VAR_042928 p.Asn721Ser Polymorphism rs2282284 -
FCRL4 Q96PJ5 VAR_042929 p.Arg60Gln Polymorphism rs11582663 -
FCRL4 Q96PJ5 VAR_042930 p.Asn255Ser Polymorphism rs4561035 -
FCRL4 Q96PJ5 VAR_042931 p.Lys457Arg Polymorphism rs2039401 -
FCRL4 Q96PJ5 VAR_042932 p.Tyr493Cys Polymorphism rs3811028 -
FCRL5 Q96RD9 VAR_025447 p.Tyr267His Polymorphism rs6679793 -
FCRL5 Q96RD9 VAR_025448 p.Val269Ile Polymorphism rs12036228 -
FCRL5 Q96RD9 VAR_025449 p.Gly418Asp Polymorphism rs2012199 -
FCRL5 Q96RD9 VAR_025450 p.Val466Ile Polymorphism rs6427384 -
FCRL5 Q96RD9 VAR_035514 p.Ser687Cys Unclassified - A breast cancer sample
FCRL5 Q96RD9 VAR_056044 p.Asn427Lys Polymorphism rs16838748 -
FCRL5 Q96RD9 VAR_056045 p.Gln457Arg Polymorphism rs34868810 -
FCRL6 Q6DN72 VAR_031090 p.Ser427Gly Polymorphism rs4443889 -
FCRLA Q7L513 VAR_025646 p.Arg349Gln Polymorphism rs11746 -
FDFT1 P37268 VAR_011786 p.Lys45Arg Polymorphism rs11549147 -
FDFT1 P37268 VAR_011787 p.Leu392Pro Polymorphism rs1804473 -
FDPS P14324 VAR_049644 p.Ile391Val Polymorphism rs17456 -
FDPS P14324 VAR_061274 p.Val364Ala Polymorphism rs41314549 -
FDXACB1 Q9BRP7 VAR_060321 p.Ile87Asn Polymorphism rs611010 -
FDXACB1 Q9BRP7 VAR_060322 p.Thr475Pro Polymorphism rs3168263 -
FDXACB1 Q9BRP7 VAR_062165 p.Thr28Ala Polymorphism rs59164893 -
FDXR P22570 VAR_004624 p.Arg123Gln Polymorphism rs690514 -
FDXR P22570 VAR_025192 p.Arg7Leu Polymorphism rs28365947 -
FDXR P22570 VAR_025193 p.Gly213Val Polymorphism rs35692345 -
FDXR P22570 VAR_025194 p.Pro248Leu Polymorphism rs35072974 -
FDXR P22570 VAR_025195 p.Arg251Trp Polymorphism rs34038065 -
FDXR P22570 VAR_025196 p.Arg301Cys Polymorphism rs34118765 -
FDXR P22570 VAR_025197 p.Thr345Met Polymorphism rs35660143 -
FDXR P22570 VAR_025198 p.Pro352Ser Polymorphism rs35696549 -
FDXR P22570 VAR_025199 p.Thr472Ala Polymorphism rs35769464 -
FECH P22830 VAR_002383 p.Gly55Cys Disease rs3848519 Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_002384 p.Ile186Thr Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_002385 p.Met267Ile Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_002386 p.His386Pro Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_002387 p.Phe417Ser Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_012028 p.Arg96Gln Polymorphism rs1041951 -
FECH P22830 VAR_030553 p.Pro62Arg Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030554 p.Ile71Lys Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030555 p.Gln139Leu Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030556 p.Ser151Pro Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030557 p.Glu178Lys Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030558 p.Leu182Arg Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030559 p.Tyr191His Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030560 p.Pro192Thr Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030561 p.Cys236Tyr Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030562 p.Phe260Leu Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030563 p.Thr283Ile Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030564 p.Met288Lys Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030565 p.Pro334Leu Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030566 p.Val362Gly Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030567 p.Lys379Asn Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030568 p.Cys406Ser Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_030569 p.Cys406Tyr Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FECH P22830 VAR_054629 p.Ser264Leu Disease - Erythropoietic protoporphyria (EPP) [MIM:177000]
FEM1A Q9BSK4 VAR_039809 p.His500Tyr Polymorphism - -
FEM1C Q96JP0 VAR_039810 p.Asp434Asn Unclassified - A breast cancer sample
FEM1C Q96JP0 VAR_039811 p.Asp462Asn Unclassified - A breast cancer sample
FER P16591 VAR_006282 p.Leu439Val Polymorphism rs34499946 -
FER P16591 VAR_041691 p.Val128Phe Polymorphism rs35150210 -
FER P16591 VAR_041692 p.Glu404Gln Unclassified - An ovarian Endometrioid carcinoma sample
FER P16591 VAR_041693 p.Met412Val Polymorphism rs33940843 -
FER P16591 VAR_041694 p.Ala443Pro Polymorphism rs34259824 -
FER P16591 VAR_041695 p.Trp460Cys Unclassified - A lung small cell carcinoma sample
FER P16591 VAR_041696 p.Glu813Gln Polymorphism rs56097357 -
FER P16591 VAR_051695 p.Ile507Thr Polymorphism rs34204308 -
FER1L4 A9Z1Z3 VAR_045893 p.Lys1179Glu Polymorphism rs1557202 -
FER1L4 A9Z1Z3 VAR_045894 p.Asn1183Ser Polymorphism rs11698021 -
FER1L4 A9Z1Z3 VAR_045895 p.Val1318Ile Polymorphism rs2277862 -
FER1L5 A0AVI2 VAR_059285 p.Ile337Thr Polymorphism rs4907201 -
FER1L5 A0AVI2 VAR_059286 p.Thr682Ala Polymorphism rs7599598 -
FER1L6 Q2WGJ9 VAR_039558 p.Asp1110Glu Polymorphism rs7012186 -
FERD3L Q96RJ6 VAR_042439 p.Gly36Arg Unclassified - A colorectal cancer sample
FERMT1 Q9BQL6 VAR_014398 p.Arg526Lys Polymorphism rs2232074 -
FERMT1 Q9BQL6 VAR_014399 p.Ala534Thr Polymorphism rs2232078 -
FERMT1 Q9BQL6 VAR_048368 p.Ile160Thr Polymorphism rs16991866 -
FERMT1 Q9BQL6 VAR_061035 p.Val241Ala Polymorphism rs55666319 -
FERMT1 Q9BQL6 VAR_066943 p.Ser400Pro Disease - Kindler syndrome (KINDS) [MIM:173650]
FERMT1 Q9BQL6 VAR_066944 p.Trp559Arg Disease - Kindler syndrome (KINDS) [MIM:173650]
FES P07332 VAR_041697 p.Arg85Cys Polymorphism rs56041861 -
FES P07332 VAR_041698 p.Arg246Gln Polymorphism rs34573430 -
FES P07332 VAR_041699 p.Met323Val Polymorphism rs56296062 -
FETUB Q9UGM5 VAR_024449 p.Gly202Ser Polymorphism rs6785067 -
FETUB Q9UGM5 VAR_049061 p.Ser33Pro Polymorphism rs34522046 -
FETUB Q9UGM5 VAR_049062 p.Lys360Arg Polymorphism rs7999 -
FEZ1 Q99689 VAR_020461 p.Asp123Glu Polymorphism rs597570 -
FEZ2 Q9UHY8 VAR_053771 p.Pro50Leu Polymorphism rs1544655 -
FEZ2 Q9UHY8 VAR_053772 p.Arg329Cys Polymorphism rs848642 -
FEZF2 Q8TBJ5 VAR_033213 p.Pro164Thr Polymorphism rs17852031 -
FEZF2 Q8TBJ5 VAR_033214 p.Ser250Trp Polymorphism rs17852032 -
FEZF2 Q8TBJ5 VAR_065740 p.Gly188Asp Unclassified - -
FFAR1 O14842 VAR_020076 p.Arg211His Polymorphism rs2301151 -
FFAR2 O15552 VAR_011861 p.Leu211His Polymorphism rs409093 -
FFAR3 O14843 VAR_062854 p.Gln44Arg Polymorphism - -
FFAR3 O14843 VAR_062855 p.Arg45Cys Polymorphism rs423385 -
FFAR3 O14843 VAR_062856 p.Arg174Trp Unclassified - -
FFAR3 O14843 VAR_062857 p.Leu227Val Polymorphism rs403989 -
FFAR3 O14843 VAR_062858 p.Ala256Val Polymorphism rs424715 -
FFAR3 O14843 VAR_062962 p.Ser346Asn Polymorphism - -
FGA P02671 VAR_002390 p.Asp26Asn Unclassified - -
FGA P02671 VAR_002391 p.Gly31Val Unclassified - -
FGA P02671 VAR_002392 p.Arg35Cys Polymorphism - -
FGA P02671 VAR_002393 p.Arg35His Polymorphism - -
FGA P02671 VAR_002394 p.Pro37Leu Unclassified - -
FGA P02671 VAR_002395 p.Arg38Asn Unclassified - -
FGA P02671 VAR_002396 p.Arg38Ser Unclassified - -
FGA P02671 VAR_002397 p.Arg38Gly Unclassified - -
FGA P02671 VAR_002398 p.Ser66Thr Polymorphism - -
FGA P02671 VAR_002399 p.Arg160Ser Unclassified - -
FGA P02671 VAR_002400 p.Ser453Asn Unclassified - -
FGA P02671 VAR_002401 p.Arg573Cys Unclassified - -
FGA P02671 VAR_010730 p.Val39Asp Unclassified - -
FGA P02671 VAR_010731 p.Glu545Val Disease - Amyloidosis type 8 (AMYL8) [MIM:105200]
FGA P02671 VAR_010732 p.Arg573Leu Disease - Amyloidosis type 8 (AMYL8) [MIM:105200]
FGA P02671 VAR_011609 p.Ile6Val Polymorphism rs2070025 -
FGA P02671 VAR_011610 p.Thr331Ala Polymorphism rs6050 -
FGA P02671 VAR_011611 p.Thr456Ala Polymorphism rs2070031 -
FGA P02671 VAR_014168 p.Lys446Glu Polymorphism rs6052 -
FGB P02675 VAR_002403 p.Arg44Cys Unclassified - -
FGB P02675 VAR_002404 p.Gly45Arg Unclassified - -
FGB P02675 VAR_002405 p.Arg74Cys Unclassified - -
FGB P02675 VAR_002406 p.Ala98Thr Unclassified - -
FGB P02675 VAR_002407 p.Ala365Thr Unclassified - -
FGB P02675 VAR_002408 p.Arg478Lys Polymorphism rs4220 -
FGB P02675 VAR_013091 p.Pro100Ser Polymorphism rs2227434 -
FGB P02675 VAR_013092 p.Asn170His Polymorphism rs2227409 -
FGB P02675 VAR_013093 p.Pro265Leu Polymorphism rs6054 -
FGB P02675 VAR_014169 p.Lys2Glu Polymorphism rs6053 -
FGB P02675 VAR_016908 p.Arg196Cys Disease - Congenital afibrinogenemia (CAFBN) [MIM:202400]
FGB P02675 VAR_016909 p.Leu383Arg Disease - Congenital afibrinogenemia (CAFBN) [MIM:202400]
FGB P02675 VAR_016910 p.Gly430Asp Disease - Congenital afibrinogenemia (CAFBN) [MIM:202400]
FGD1 P98174 VAR_015236 p.Arg522His Disease - Aarskog-Scott syndrome (AAS) [MIM:305400]
FGD1 P98174 VAR_015237 p.Arg610Gln Disease rs28935497 Aarskog-Scott syndrome (AAS) [MIM:305400]
FGD1 P98174 VAR_019268 p.Ser205Ile Disease - Aarskog-Scott syndrome (AAS) [MIM:305400]
FGD1 P98174 VAR_019269 p.Pro312Leu Polymorphism rs28935498 -
FGD1 P98174 VAR_019270 p.Glu380Ala Disease - Aarskog-Scott syndrome (AAS) [MIM:305400]
FGD1 P98174 VAR_019271 p.Arg443His Disease - Aarskog-Scott syndrome (AAS) [MIM:305400]
FGD2 Q7Z6J4 VAR_021491 p.Gln32His Polymorphism rs831510 -
FGD3 Q5JSP0 VAR_021492 p.Val275Ile Polymorphism rs3802384 -
FGD4 Q96M96 VAR_034957 p.Met298Arg Unclassified - -
FGD4 Q96M96 VAR_044321 p.Met298Thr Disease - Charcot-Marie-Tooth disease type 4H (CMT4H) [MIM:609311]
FGD5 Q6ZNL6 VAR_059799 p.Gly403Arg Polymorphism rs7636593 -
FGD5 Q6ZNL6 VAR_059800 p.Ala828Thr Polymorphism rs17038795 -
FGD5 Q6ZNL6 VAR_059801 p.Glu941Lys Polymorphism rs2307092 -
FGD6 Q6ZV73 VAR_024286 p.Gln257Arg Polymorphism rs10507047 -
FGD6 Q6ZV73 VAR_051985 p.Glu1393Lys Polymorphism rs3794255 -
FGF1 P05230 VAR_021357 p.Gly21Glu Polymorphism rs17223632 -
FGF10 O15520 VAR_029888 p.Cys106Phe Disease - Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
FGF10 O15520 VAR_029889 p.Ile156Arg Disease - Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
FGF11 Q92914 VAR_018886 p.Arg163Gly Polymorphism - -
FGF13 Q92913 VAR_020945 p.Lys197Gln Polymorphism rs17510270 -
FGF14 Q92915 VAR_022735 p.Gly42Cys Polymorphism - -
FGF14 Q92915 VAR_022736 p.Phe145Ser Disease - Spinocerebellar ataxia type 27 (SCA27) [MIM:609307]
FGF20 Q9NP95 VAR_020946 p.Gly116Arg Polymorphism rs3793405 -
FGF20 Q9NP95 VAR_020947 p.Pro175Ala Polymorphism rs10089600 -
FGF20 Q9NP95 VAR_020948 p.Asp206Asn Polymorphism rs17550360 -
FGF21 Q9NSA1 VAR_049064 p.Leu174Pro Polymorphism rs739320 -
FGF21 Q9NSA1 VAR_055375 p.Gly141Ser Polymorphism rs41308776 -
FGF23 Q9GZV9 VAR_010717 p.Arg176Gln Disease - Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]
FGF23 Q9GZV9 VAR_010718 p.Arg179Trp Disease rs28937882 Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]
FGF23 Q9GZV9 VAR_010719 p.Arg179Gln Disease - Autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]
FGF23 Q9GZV9 VAR_010720 p.Thr239Met Polymorphism rs7955866 -
FGF23 Q9GZV9 VAR_018887 p.Pro195Ser Polymorphism rs13312793 -
FGF23 Q9GZV9 VAR_023831 p.Ser71Gly Disease - Hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900]
FGF3 P11487 VAR_031848 p.Ser156Pro Disease - Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]
FGF3 P11487 VAR_060492 p.Leu6Pro Disease - Deafness with labyrinthine aplasia, microtia and microdontia (LAMM) [MIM:610706]
FGF5 P12034 VAR_025174 p.Met54Val Polymorphism rs33950145 -
FGF6 P10767 VAR_018882 p.Val36Ala Polymorphism rs11613495 -
FGF6 P10767 VAR_018883 p.Ala63Val Polymorphism rs17183529 -
FGF6 P10767 VAR_018884 p.Asp174Val Polymorphism rs7961645 -
FGF6 P10767 VAR_018885 p.Arg191Trp Polymorphism rs17183778 -
FGF7 P21781 VAR_049063 p.Met59Thr Polymorphism rs34531231 -
FGF8 P55075 VAR_057962 p.His14Asn Disease - Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
FGF8 P55075 VAR_057963 p.Pro26Leu Disease - Kallmann syndrome type 6 (KAL6) [MIM:612702]
FGF8 P55075 VAR_057964 p.Phe40Leu Disease - Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
FGF8 P55075 VAR_057965 p.Lys89Glu Disease - Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
FGF8 P55075 VAR_057966 p.Arg116Gly Disease - Kallmann syndrome type 6 (KAL6) [MIM:612702]
FGF8 P55075 VAR_057967 p.Thr218Met Disease - Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
FGF9 P31371 VAR_020944 p.Ile94Val Polymorphism rs12427696 -
FGF9 P31371 VAR_063254 p.Ser99Asn Disease - Multiple synostoses syndrome type 3 (SYNS3) [MIM:612961]
FGFBP2 Q9BYJ0 VAR_049065 p.Pro90Ser Polymorphism rs758329 -
FGFBP2 Q9BYJ0 VAR_059287 p.Phe84Leu Polymorphism rs2286459 -
FGFBP2 Q9BYJ0 VAR_061171 p.Ser28Asn Polymorphism rs35496730 -
FGFBP3 Q8TAT2 VAR_026888 p.Glu206Val Polymorphism rs1107947 -
FGFBP3 Q8TAT2 VAR_059288 p.Ala107Thr Polymorphism rs10881994 -
FGFR1 P11362 VAR_004111 p.Pro252Arg Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR1 P11362 VAR_017885 p.Gly97Asp Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_017886 p.Tyr99Cys Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_017887 p.Ala167Ser Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_017888 p.Cys277Tyr Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_017889 p.Val607Met Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_017890 p.Trp666Arg Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_017891 p.Met719Arg Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_017892 p.Pro772Ser Disease rs56234888 Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_019290 p.Arg22Ser Polymorphism rs17175750 -
FGFR1 P11362 VAR_019291 p.Gly818Arg Polymorphism rs17182456 -
FGFR1 P11362 VAR_019292 p.Arg822Cys Polymorphism rs17182463 -
FGFR1 P11362 VAR_030968 p.Gly48Ser Disease - Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
FGFR1 P11362 VAR_030969 p.Asn77Lys Polymorphism - -
FGFR1 P11362 VAR_030970 p.Arg78Cys Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030971 p.Cys101Phe Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030972 p.Val102Ile Disease rs55642501 Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030973 p.Asp129Ala Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030974 p.Cys178Ser Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030975 p.Trp213Gly Polymorphism rs17851623 -
FGFR1 P11362 VAR_030976 p.Asp224His Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030977 p.Gly237Asp Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030978 p.Gly237Ser Unclassified - -
FGFR1 P11362 VAR_030979 p.Leu245Pro Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030980 p.Arg250Trp Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030981 p.Arg254Gln Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030982 p.Gly270Asp Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030983 p.Val273Met Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030984 p.Glu274Gly Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030985 p.Pro283Arg Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030986 p.Ile300Thr Disease - Trigonocephaly non-syndromic (TRICEPH) [MIM:190440]
FGFR1 P11362 VAR_030987 p.Asn330Ile Disease - Osteoglophonic dysplasia (OGD) [MIM:166250]
FGFR1 P11362 VAR_030988 p.Ser332Cys Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030989 p.Tyr339Cys Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030990 p.Ala343Val Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030991 p.Ser346Cys Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030992 p.Pro366Leu Unclassified - -
FGFR1 P11362 VAR_030993 p.Tyr374Cys Disease - Osteoglophonic dysplasia (OGD) [MIM:166250]
FGFR1 P11362 VAR_030994 p.Cys381Arg Disease - Osteoglophonic dysplasia (OGD) [MIM:166250]
FGFR1 P11362 VAR_030995 p.Ala520Thr Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030996 p.Ile538Val Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030997 p.His621Arg Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030998 p.Arg622Gly Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_030999 p.Arg622Gln Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_031000 p.Ser685Phe Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_031001 p.Gly687Arg Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_031002 p.Ile693Phe Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_031003 p.Gly703Arg Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_031004 p.Gly703Ser Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_031005 p.Pro722His Disease - Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
FGFR1 P11362 VAR_031006 p.Pro722Ser Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_031007 p.Asn724Lys Disease - Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
FGFR1 P11362 VAR_031008 p.Pro745Ser Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_031009 p.Leu769Val Polymorphism rs2956723 -
FGFR1 P11362 VAR_031010 p.Val795Ile Disease - Kallmann syndrome type 2 (KAL2) [MIM:147950]
FGFR1 P11362 VAR_042201 p.Ser125Leu Unclassified - A breast infiltrating ductal carcinoma sample
FGFR1 P11362 VAR_042202 p.Pro252Thr Unclassified - A lung bronchoalveolar carcinoma sample
FGFR1 P11362 VAR_042203 p.Val664Leu Unclassified - A lung large cell carcinoma sample
FGFR1OP O95684 VAR_051000 p.Lys271Asn Polymorphism rs17856382 -
FGFR1OP O95684 VAR_061651 p.Ala190Gly Polymorphism rs34617108 -
FGFR2 P21802 VAR_004112 p.Tyr105Cys Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004113 p.Ser252Leu Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004114 p.Ser252Phe Disease - Apert syndrome (APRS) [MIM:101200]
FGFR2 P21802 VAR_004115 p.Ser252Trp Disease - Apert syndrome (APRS) [MIM:101200]
FGFR2 P21802 VAR_004115 p.Ser252Trp Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_004117 p.Pro253Arg Disease - Apert syndrome (APRS) [MIM:101200]
FGFR2 P21802 VAR_004118 p.Ser267Pro Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004120 p.Phe276Val Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004121 p.Cys278Phe Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004121 p.Cys278Phe Disease - Jackson-Weiss syndrome (JWS) [MIM:123150]
FGFR2 P21802 VAR_004121 p.Cys278Phe Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_004123 p.Gln289Pro Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004123 p.Gln289Pro Disease - Jackson-Weiss syndrome (JWS) [MIM:123150]
FGFR2 P21802 VAR_004124 p.Trp290Cys Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_004125 p.Trp290Arg Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004126 p.Lys292Glu Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004127 p.Tyr301Cys Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004128 p.Ala314Ser Unclassified - -
FGFR2 P21802 VAR_004129 p.Asp321Ala Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_004130 p.Tyr328Cys Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004131 p.Asn331Ile Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004133 p.Gly338Glu Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004134 p.Tyr340His Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004135 p.Thr341Pro Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004135 p.Thr341Pro Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_004136 p.Cys342Phe Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004137 p.Cys342Arg Disease - Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410]
FGFR2 P21802 VAR_004137 p.Cys342Arg Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004137 p.Cys342Arg Disease - Jackson-Weiss syndrome (JWS) [MIM:123150]
FGFR2 P21802 VAR_004137 p.Cys342Arg Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_004138 p.Cys342Ser Disease - Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410]
FGFR2 P21802 VAR_004138 p.Cys342Ser Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004138 p.Cys342Ser Disease - Jackson-Weiss syndrome (JWS) [MIM:123150]
FGFR2 P21802 VAR_004138 p.Cys342Ser Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_004139 p.Cys342Tyr Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004139 p.Cys342Tyr Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_004140 p.Ala344Gly Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004140 p.Ala344Gly Disease - Jackson-Weiss syndrome (JWS) [MIM:123150]
FGFR2 P21802 VAR_004141 p.Ala344Pro Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004141 p.Ala344Pro Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_004142 p.Ser347Cys Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004143 p.Ser351Cys Disease - Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410]
FGFR2 P21802 VAR_004143 p.Ser351Cys Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004143 p.Ser351Cys Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_004144 p.Ser354Cys Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004146 p.Val359Phe Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_004146 p.Val359Phe Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_004147 p.Gly384Arg Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_015011 p.Gly338Arg Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_015012 p.Gly613Arg Polymorphism - -
FGFR2 P21802 VAR_017258 p.Arg6Pro Polymorphism rs3750819 -
FGFR2 P21802 VAR_017259 p.Ala172Phe Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_017260 p.Met186Thr Polymorphism rs755793 -
FGFR2 P21802 VAR_017261 p.Pro263Leu Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_017263 p.Cys278Tyr Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_017264 p.Tyr281Cys Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_017265 p.Ile288Ser Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_017266 p.Trp290Gly Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_017267 p.Ala315Ser Unclassified - -
FGFR2 P21802 VAR_017268 p.Ala337Pro Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_017269 p.Tyr340Cys Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_017270 p.Cys342Gly Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_017271 p.Cys342Trp Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_017272 p.Ser354Tyr Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_017273 p.Ala362Ser Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_017274 p.Ser372Cys Disease - Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790]
FGFR2 P21802 VAR_017275 p.Tyr375Cys Disease - Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:123790]
FGFR2 P21802 VAR_017275 p.Tyr375Cys Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_017276 p.Asn549His Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_017277 p.Glu565Gly Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_017278 p.Lys641Arg Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_017279 p.Lys659Asn Unclassified - -
FGFR2 P21802 VAR_017280 p.Gly663Glu Disease - Pfeiffer syndrome (PS) [MIM:101600]
FGFR2 P21802 VAR_017281 p.Arg678Gly Disease - Crouzon syndrome (CS) [MIM:123500]
FGFR2 P21802 VAR_023788 p.Lys526Glu Disease - Familial scaphocephaly syndrome (FSPC) [MIM:609579]
FGFR2 P21802 VAR_029884 p.Ala628Thr Disease - Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
FGFR2 P21802 VAR_029885 p.Ala648Thr Disease - Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
FGFR2 P21802 VAR_036380 p.Arg203Cys Unclassified - Breast cancer samples
FGFR2 P21802 VAR_042204 p.Ser57Leu Polymorphism rs56226109 -
FGFR2 P21802 VAR_042205 p.Gly272Val Unclassified - An ovarian serous carcinoma sample
FGFR2 P21802 VAR_042206 p.Asp283Asn Unclassified - A lung squamous cell carcinoma sample
FGFR2 P21802 VAR_046071 p.Arg612Thr Unclassified - A lung adenocarcinoma sample
FGFR3 P22607 VAR_004148 p.Arg248Cys Disease - Bladder cancer (BLC) [MIM:109800]
FGFR3 P22607 VAR_004148 p.Arg248Cys Disease - Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
FGFR3 P22607 VAR_004148 p.Arg248Cys Disease - Keratosis seborrheic (KERSEB) [MIM:182000]
FGFR3 P22607 VAR_004148 p.Arg248Cys Disease - Thanatophoric dysplasia type 1 (TD1) [MIM:187600]
FGFR3 P22607 VAR_004149 p.Ser249Cys Disease - Bladder cancer (BLC) [MIM:109800]
FGFR3 P22607 VAR_004149 p.Ser249Cys Disease - Cervical cancer (CERCA) [MIM:603956]
FGFR3 P22607 VAR_004149 p.Ser249Cys Disease - Keratosis seborrheic (KERSEB) [MIM:182000]
FGFR3 P22607 VAR_004149 p.Ser249Cys Disease - Thanatophoric dysplasia type 1 (TD1) [MIM:187600]
FGFR3 P22607 VAR_004150 p.Pro250Arg Disease rs4647924 Muenke syndrome (MNKS) [MIM:602849]
FGFR3 P22607 VAR_004151 p.Gly370Cys Disease - Bladder cancer (BLC) [MIM:109800]
FGFR3 P22607 VAR_004151 p.Gly370Cys Disease - Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
FGFR3 P22607 VAR_004151 p.Gly370Cys Disease - Keratosis seborrheic (KERSEB) [MIM:182000]
FGFR3 P22607 VAR_004151 p.Gly370Cys Disease - Thanatophoric dysplasia type 1 (TD1) [MIM:187600]
FGFR3 P22607 VAR_004152 p.Ser371Cys Disease - Keratosis seborrheic (KERSEB) [MIM:182000]
FGFR3 P22607 VAR_004152 p.Ser371Cys Disease - Thanatophoric dysplasia type 1 (TD1) [MIM:187600]
FGFR3 P22607 VAR_004153 p.Tyr373Cys Disease - Keratosis seborrheic (KERSEB) [MIM:182000]
FGFR3 P22607 VAR_004153 p.Tyr373Cys Disease - Thanatophoric dysplasia type 1 (TD1) [MIM:187600]
FGFR3 P22607 VAR_004154 p.Gly375Cys Disease - Achondroplasia (ACH) [MIM:100800]
FGFR3 P22607 VAR_004155 p.Gly380Arg Disease rs28931614 Achondroplasia (ACH) [MIM:100800]
FGFR3 P22607 VAR_004155 p.Gly380Arg Disease rs28931614 Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900]
FGFR3 P22607 VAR_004156 p.Ala391Glu Disease rs28931615 Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247]
FGFR3 P22607 VAR_004157 p.Ile538Val Disease - Hypochondroplasia (HCH) [MIM:146000]
FGFR3 P22607 VAR_004158 p.Asn540Lys Disease rs28933068 Hypochondroplasia (HCH) [MIM:146000]
FGFR3 P22607 VAR_004159 p.Asn540Thr Disease - Hypochondroplasia (HCH) [MIM:146000]
FGFR3 P22607 VAR_004160 p.Lys650Glu Disease - Keratosis seborrheic (KERSEB) [MIM:182000]
FGFR3 P22607 VAR_004160 p.Lys650Glu Disease - Testicular tumors (TEST) [MIM:273300]
FGFR3 P22607 VAR_004160 p.Lys650Glu Disease - Thanatophoric dysplasia type 2 (TD2) [MIM:187601]
FGFR3 P22607 VAR_004161 p.Lys650Met Disease - Achondroplasia (ACH) [MIM:100800]
FGFR3 P22607 VAR_004161 p.Lys650Met Disease - Keratosis seborrheic (KERSEB) [MIM:182000]
FGFR3 P22607 VAR_004161 p.Lys650Met Disease - Thanatophoric dysplasia type 1 (TD1) [MIM:187600]
FGFR3 P22607 VAR_018388 p.Glu322Lys Unclassified - Colorectal cancer
FGFR3 P22607 VAR_018389 p.Asn540Ser Disease - Hypochondroplasia (HCH) [MIM:146000]
FGFR3 P22607 VAR_018390 p.Lys650Gln Disease - Bladder cancer (BLC) [MIM:109800]
FGFR3 P22607 VAR_018390 p.Lys650Gln Disease - Hypochondroplasia (HCH) [MIM:146000]
FGFR3 P22607 VAR_022167 p.Gly65Arg Polymorphism rs2305178 -
FGFR3 P22607 VAR_022168 p.Phe384Leu Polymorphism rs17881656 -
FGFR3 P22607 VAR_022169 p.Ala441Thr Polymorphism rs17884368 -
FGFR3 P22607 VAR_022170 p.Ala717Thr Polymorphism rs17882190 -
FGFR3 P22607 VAR_022171 p.Ile726Phe Polymorphism rs17880763 -
FGFR3 P22607 VAR_029108 p.Arg621His Disease - Camptodactyly tall stature and hearing loss syndrome (CATSHL syndrome) [MIM:610474]
FGFR3 P22607 VAR_029887 p.Asp513Asn Disease - Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]
FGFR3 P22607 VAR_042207 p.Thr79Ser Unclassified - A lung adenocarcinoma sample
FGFR3 P22607 VAR_042208 p.Cys228Arg Unclassified - A colorectal adenocarcinoma sample
FGFR3 P22607 VAR_042209 p.Thr338Met Polymorphism - -
FGFR3 P22607 VAR_042210 p.Asp646Asn Polymorphism - -
FGFR4 P22455 VAR_014797 p.Gly388Arg Polymorphism rs351855 -
FGFR4 P22455 VAR_029185 p.Val10Ile Polymorphism rs1966265 -
FGFR4 P22455 VAR_042211 p.Pro136Leu Polymorphism rs376618 -
FGFR4 P22455 VAR_042212 p.Thr179Ala Polymorphism rs55675160 -
FGFR4 P22455 VAR_042213 p.Asp516Asn Polymorphism rs34158682 -
FGFR4 P22455 VAR_046102 p.Gly426Ser Polymorphism rs55879131 -
FGFR4 P22455 VAR_046103 p.Val550Met Unclassified - -
FGFR4 P22455 VAR_046104 p.Pro712Thr Unclassified - A lung adenocarcinoma sample
FGFR4 P22455 VAR_046105 p.Ser772Asn Unclassified - A lung neuroendocrine carcinoma sample
FGFR4 P22455 VAR_049720 p.Arg529Gln Polymorphism rs34284947 -
FGFRL1 Q8N441 VAR_022642 p.Pro362Gln Polymorphism rs4647930 -
FGFRL1 Q8N441 VAR_024316 p.Pro464Leu Polymorphism rs4647932 -
FGG P02679 VAR_002409 p.Arg301Cys Unclassified - -
FGG P02679 VAR_002410 p.Arg301His Unclassified - -
FGG P02679 VAR_002411 p.Gly318Val Unclassified - -
FGG P02679 VAR_002412 p.Asn334Lys Unclassified - -
FGG P02679 VAR_002413 p.Asn334Ile Unclassified - -
FGG P02679 VAR_002414 p.Met336Thr Unclassified - -
FGG P02679 VAR_002416 p.Gln355Arg Unclassified - -
FGG P02679 VAR_002417 p.Asp356Tyr Unclassified - -
FGG P02679 VAR_002418 p.Asp356Val Unclassified - -
FGG P02679 VAR_002419 p.Asn363Lys Unclassified - -
FGG P02679 VAR_002421 p.Ser384Cys Unclassified - -
FGG P02679 VAR_002422 p.Arg401Gly Unclassified - -
FGG P02679 VAR_014170 p.Gly191Arg Polymorphism rs6063 -
FGG P02679 VAR_014171 p.Met410Val Polymorphism rs6061 -
FGG P02679 VAR_015853 p.Gly335Asp Unclassified - -
FGG P02679 VAR_033930 p.Tyr140His Polymorphism rs2066870 -
FGG P02679 VAR_049066 p.Glu77Gly Polymorphism rs11551835 -
FGGY Q96C11 VAR_040072 p.Leu134Val Polymorphism rs11207463 -
FGGY Q96C11 VAR_059193 p.Asn43Lys Polymorphism rs835409 -
FGGY Q96C11 VAR_059194 p.Leu246Val Polymorphism rs11207463 -
FGL1 Q08830 VAR_024002 p.Thr15Ile Polymorphism rs484373 -
FGL1 Q08830 VAR_024003 p.Ile72Val Polymorphism rs3739406 -
FGL1 Q08830 VAR_024004 p.Pro105Leu Polymorphism rs2653406 -
FGL1 Q08830 VAR_024005 p.Tyr111His Polymorphism rs34019703 -
FGL1 Q08830 VAR_024006 p.Thr121Ser Polymorphism rs34239530 -
FGL1 Q08830 VAR_024007 p.Tyr140Phe Polymorphism rs35431851 -
FGL1 Q08830 VAR_049067 p.Met114Val Polymorphism rs35311020 -
FGL1 Q08830 VAR_049068 p.Trp256Leu Polymorphism rs2653414 -
FGL2 Q14314 VAR_013066 p.Gly53Glu Polymorphism rs2075761 -
FGR P09769 VAR_041700 p.Thr110Ile Polymorphism rs34597831 -
FGR P09769 VAR_041701 p.Ser130Arg Polymorphism rs35334091 -
FH P07954 VAR_002445 p.Lys230Arg Disease - Fumarase deficiency (FHD) [MIM:606812]
FH P07954 VAR_002445 p.Lys230Arg Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
FH P07954 VAR_002446 p.Ala308Thr Disease - Fumarase deficiency (FHD) [MIM:606812]
FH P07954 VAR_002447 p.Phe312Cys Disease - Fumarase deficiency (FHD) [MIM:606812]
FH P07954 VAR_002448 p.Asp425Val Disease - Fumarase deficiency (FHD) [MIM:606812]
FH P07954 VAR_013497 p.Asn107Thr Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
FH P07954 VAR_013498 p.Ala117Pro Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
FH P07954 VAR_013499 p.His180Arg Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
FH P07954 VAR_013500 p.Gln185Arg Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
FH P07954 VAR_013501 p.Arg233His Disease rs28933069 Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
FH P07954 VAR_013502 p.Gly282Val Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
FH P07954 VAR_013503 p.Met328Arg Disease - Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]
FHAD1 B1AJZ9 VAR_046372 p.Glu763Lys Polymorphism rs12126178 -
FHDC1 Q9C0D6 VAR_050990 p.Arg639Cys Polymorphism rs3811833 -
FHL1 Q13642 VAR_042603 p.Trp122Ser Disease - X-linked dominant scapuloperoneal myopathy (SPM) [MIM:300695]
FHL1 Q13642 VAR_042605 p.Cys224Trp Disease - X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:300696]
FHL1 Q13642 VAR_045999 p.His123Tyr Disease - X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]
FHL1 Q13642 VAR_046000 p.Cys132Phe Disease - X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]
FHL1 Q13642 VAR_046001 p.Cys153Arg Disease - X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]
FHL1 Q13642 VAR_046002 p.Cys153Tyr Disease - X-linked severe early-onset reducing body myopathy (RBM) [MIM:300717]
FHL5 Q5TD97 VAR_022824 p.Val211Met Polymorphism rs2252816 -
FHL5 Q5TD97 VAR_056160 p.Arg35His Polymorphism rs35157931 -
FHL5 Q5TD97 VAR_056161 p.Arg204Gly Polymorphism rs2273621 -
FHL5 Q5TD97 VAR_056162 p.Ser243Arg Polymorphism rs9373985 -
FHOD3 Q2V2M9 VAR_055804 p.Arg475Trp Polymorphism rs9964535 -
FIBP O43427 VAR_050991 p.Arg152Trp Polymorphism rs11559154 -
FIBP O43427 VAR_050992 p.Met351Val Polymorphism rs2231893 -
FIBP O43427 VAR_060711 p.Leu359Arg Polymorphism - -
FIG4 Q92562 VAR_020378 p.Met364Leu Polymorphism rs2295837 -
FIG4 Q92562 VAR_022826 p.Val654Ala Polymorphism rs9885672 -
FIG4 Q92562 VAR_036974 p.Ile41Thr Disease - Charcot-Marie-Tooth disease type 4J (CMT4J) [MIM:611228]
FIG4 Q92562 VAR_054831 p.Asp48Gly Polymorphism - -
FIG4 Q92562 VAR_054832 p.Asp53Tyr Disease - Amyotrophic lateral sclerosis type 11 (ALS11) [MIM:612577]
FIG4 Q92562 VAR_054833 p.Arg388Gly Polymorphism - -
FIG4 Q92562 VAR_054834 p.Ile411Val Polymorphism - -
FIG4 Q92562 VAR_054835 p.Tyr647Cys Polymorphism - -
FIG4 Q92562 VAR_054836 p.Ile902Thr Polymorphism - -
FIGLA Q6QHK4 VAR_046776 p.Ala4Glu Polymorphism - -
FIGLA Q6QHK4 VAR_046778 p.Ser141Thr Polymorphism rs7566476 -
FIGN Q5HY92 VAR_027613 p.Ser96Leu Polymorphism rs2231902 -
FIGN Q5HY92 VAR_027614 p.Arg448Cys Polymorphism rs2231904 -
FIGN Q5HY92 VAR_027615 p.Lys565Arg Polymorphism rs2231905 -
FIGNL1 Q6PIW4 VAR_034941 p.Val137Met Polymorphism rs10235371 -
FIGNL1 Q6PIW4 VAR_034942 p.His216Tyr Polymorphism rs35929700 -
FIGNL2 A6NMB9 VAR_044425 p.Thr366Pro Polymorphism rs303819 -
FILIP1 Q7Z7B0 VAR_050995 p.Pro1003Ser Polymorphism rs34807169 -
FILIP1L Q4L180 VAR_050993 p.Arg168His Polymorphism rs793440 -
FILIP1L Q4L180 VAR_050994 p.Ala884Pro Polymorphism rs28362487 -
FIZ1 Q96SL8 VAR_060269 p.Thr391Ala Polymorphism rs7247236 -
FJX1 Q86VR8 VAR_043117 p.Met153Leu Polymorphism rs12792700 -
FJX1 Q86VR8 VAR_062233 p.Arg415His Polymorphism rs12286850 -
FKBP10 Q96AY3 VAR_050625 p.Lys197Arg Polymorphism rs34764749 -
FKBP15 Q5T1M5 VAR_034851 p.Ala106Thr Polymorphism rs1133618 -
FKBP15 Q5T1M5 VAR_034852 p.His413Gln Polymorphism rs10435864 -
FKBP15 Q5T1M5 VAR_034853 p.Leu434Phe Polymorphism rs10465129 -
FKBP15 Q5T1M5 VAR_061543 p.Ala847Ser Polymorphism rs1128116 -
FKBP15 Q5T1M5 VAR_061544 p.Pro993Thr Polymorphism rs57348436 -
FKBP2 P26885 VAR_006411 p.Ala25Thr Polymorphism - -
FKBP2 P26885 VAR_006412 p.Cys97Tyr Polymorphism - -
FKBP2 P26885 VAR_050623 p.Arg7Gln Polymorphism rs4672 -
FKBP4 Q02790 VAR_050624 p.Thr436Pro Polymorphism rs1042228 -
FKBP8 Q14318 VAR_044225 p.Ala87Val Polymorphism rs11574806 -
FKBP9L Q75LS8 VAR_036962 p.Val125Gly Polymorphism rs11524166 -
FKBPL Q9UIM3 VAR_061546 p.Ala90Thr Polymorphism rs28732176 -
FKRP Q9H9S5 VAR_018280 p.Ala114Gly Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKRP Q9H9S5 VAR_018282 p.Arg143Ser Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_018283 p.Pro217Thr Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKRP Q9H9S5 VAR_018284 p.Ser221Arg Disease rs28937902 Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKRP Q9H9S5 VAR_018285 p.Leu276Ile Disease rs28937900 Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_018286 p.Tyr309Cys Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKRP Q9H9S5 VAR_018287 p.Arg312Cys Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_018288 p.Pro315Thr Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKRP Q9H9S5 VAR_018289 p.Pro316Arg Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKRP Q9H9S5 VAR_018289 p.Pro316Arg Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_018290 p.Tyr328Ser Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKRP Q9H9S5 VAR_018291 p.Arg339Leu Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_018292 p.Arg339His Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKRP Q9H9S5 VAR_018293 p.Asp401Asn Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKRP Q9H9S5 VAR_018294 p.Pro448Leu Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKRP Q9H9S5 VAR_018295 p.Tyr465Ser Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKRP Q9H9S5 VAR_019272 p.Arg54Trp Disease rs28937905 Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_022850 p.Tyr307Asn Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5) [MIM:613153]
FKRP Q9H9S5 VAR_022850 p.Tyr307Asn Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_022851 p.Pro316Ser Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_022852 p.Cys318Tyr Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A5 (MDDGA5) [MIM:613153]
FKRP Q9H9S5 VAR_022853 p.Asp360Asn Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_022854 p.Val405Leu Disease rs28937904 Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKRP Q9H9S5 VAR_022855 p.Ala455Asp Disease rs28937903 Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKRP Q9H9S5 VAR_022856 p.Pro462Ser Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_065055 p.Val79Met Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_065056 p.Arg134Trp Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_065057 p.Val160Phe Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_065058 p.Tyr182Cys Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_065059 p.Thr293Ile Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_065060 p.Val300Ala Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_065061 p.Val300Met Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_065062 p.Pro358Leu Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C5 (MDDGC5) [MIM:607155]
FKRP Q9H9S5 VAR_065063 p.Asn463Asp Disease - Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation type B5 (MDDGB5) [MIM:606612]
FKTN O75072 VAR_018278 p.Cys250Gly Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800]
FKTN O75072 VAR_018279 p.Asn446Asp Polymorphism rs41313301 -
FKTN O75072 VAR_033926 p.Gly125Ser Polymorphism rs34006675 -
FKTN O75072 VAR_033927 p.Arg203Gln Polymorphism rs34787999 -
FKTN O75072 VAR_036334 p.Asp225Glu Unclassified - A breast cancer sample
FKTN O75072 VAR_036335 p.Asp225Asn Unclassified - A breast cancer sample
FKTN O75072 VAR_039287 p.Arg179Thr Disease - Cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]
FKTN O75072 VAR_039288 p.Arg307Gln Disease - Muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4) [MIM:613152]
FKTN O75072 VAR_039288 p.Arg307Gln Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588]
FKTN O75072 VAR_039289 p.Gln358Pro Disease - Cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]
FKTN O75072 VAR_061296 p.Arg56Cys Polymorphism rs41277797 -
FKTN O75072 VAR_065050 p.Ala114Thr Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588]
FKTN O75072 VAR_065051 p.Ala170Glu Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800]
FKTN O75072 VAR_065052 p.Phe176Ser Disease - Muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588]
FKTN O75072 VAR_065053 p.Arg246Gly Disease - Muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4) [MIM:613152]
FKTN O75072 VAR_065054 p.Tyr371Cys Disease - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800]
FLCN Q8NFG4 VAR_025356 p.Ser79Trp Unclassified - A sporadic colorectal carcinoma
FLCN Q8NFG4 VAR_025357 p.Ala238Val Unclassified - A renal cell carcinoma cell line
FLCN Q8NFG4 VAR_025358 p.Arg320Gln Unclassified - A primary colorectal cancer
FLCN Q8NFG4 VAR_025359 p.Arg392Gly Unclassified - A primary colorectal cancer
FLCN Q8NFG4 VAR_025360 p.Ala444Ser Unclassified - A primary clear-cell renal cell carcinoma
FLCN Q8NFG4 VAR_025361 p.Ala445Thr Unclassified rs41419545 A sporadic colorectal carcinoma
FLCN Q8NFG4 VAR_066023 p.Ser108Ile Disease - Birt-Hogg-Dube syndrome (BHD) [MIM:135150]
FLCN Q8NFG4 VAR_066024 p.Glu132Lys Disease - Primary spontaneous pneumothorax (PSP) [MIM:173600]
FLCN Q8NFG4 VAR_066026 p.Arg239Cys Disease - Renal cell carcinoma (RCC) [MIM:144700]
FLCN Q8NFG4 VAR_066027 p.Arg362Cys Unclassified - -
FLCN Q8NFG4 VAR_066028 p.His429Tyr Disease - Primary spontaneous pneumothorax (PSP) [MIM:173600]
FLCN Q8NFG4 VAR_066029 p.Lys508Arg Disease - Birt-Hogg-Dube syndrome (BHD) [MIM:135150]
FLG P20930 VAR_033931 p.Gly3436Ala Polymorphism rs2065955 -
FLG P20930 VAR_045968 p.Ser1184Leu Polymorphism rs3120649 -
FLG P20930 VAR_045969 p.Arg1376Gly Polymorphism rs11581433 -
FLG P20930 VAR_045970 p.Arg1437Cys Polymorphism rs12750571 -
FLG P20930 VAR_045971 p.Ala1805Val Polymorphism rs12405241 -
FLG P20930 VAR_045972 p.His1961Gln Polymorphism rs3126079 -
FLG P20930 VAR_045973 p.Ile2022Thr Polymorphism rs3120655 -
FLG P20930 VAR_045974 p.His2507Gln Polymorphism rs3126074 -
FLG P20930 VAR_048472 p.Arg2540Gln Polymorphism rs12407748 -
FLG P20930 VAR_048473 p.Asp2781Tyr Polymorphism rs2065958 -
FLG P20930 VAR_048474 p.Ser3371Phe Polymorphism rs3120647 -
FLG P20930 VAR_048475 p.Ser3396Pro Polymorphism rs11584340 -
FLG P20930 VAR_048476 p.His3415Tyr Polymorphism rs7512553 -
FLG P20930 VAR_048477 p.Ser3427Tyr Polymorphism rs11204978 -
FLG P20930 VAR_048478 p.His3437Gln Polymorphism rs12073613 -
FLG P20930 VAR_048479 p.Arg3490Cys Polymorphism rs2184953 -
FLG P20930 VAR_048480 p.Gln3512Arg Polymorphism rs12407748 -
FLG P20930 VAR_048481 p.Asp3584Asn Polymorphism rs3814300 -
FLG P20930 VAR_048482 p.Ser3695Phe Polymorphism rs3120647 -
FLG P20930 VAR_048483 p.Thr3696Ala Polymorphism rs2011331 -
FLG P20930 VAR_048484 p.Ser3720Pro Polymorphism rs11584340 -
FLG P20930 VAR_048485 p.His3739Tyr Polymorphism rs7512553 -
FLG P20930 VAR_048486 p.Ser3751Tyr Polymorphism rs11204978 -
FLG P20930 VAR_048487 p.Gly3760Ala Polymorphism rs2065955 -
FLG P20930 VAR_048488 p.His3761Gln Polymorphism rs12073613 -
FLG P20930 VAR_048489 p.Arg3814Cys Polymorphism rs2184953 -
FLG P20930 VAR_048490 p.Gly3827Trp Polymorphism rs12728908 -
FLG P20930 VAR_048491 p.Asp3908Asn Polymorphism rs3814300 -
FLG P20930 VAR_048492 p.Ser3935Pro Polymorphism rs3126065 -
FLG P20930 VAR_048493 p.Ser3970Leu Polymorphism rs3814299 -
FLG P20930 VAR_059155 p.Thr454Ala Polymorphism rs2011331 -
FLG P20930 VAR_059156 p.Pro478Ser Polymorphism rs11584340 -
FLG P20930 VAR_059157 p.Thr725Ile Polymorphism rs3120655 -
FLG P20930 VAR_059158 p.Ser1482Tyr Polymorphism rs11204978 -
FLG P20930 VAR_059159 p.Arg1699Cys Polymorphism rs12405278 -
FLG P20930 VAR_059160 p.Ser1750Phe Polymorphism rs3120647 -
FLG P20930 VAR_059161 p.His1816Gln Polymorphism rs12073613 -
FLG P20930 VAR_059162 p.Arg1891Gln Polymorphism rs12407748 -
FLG P20930 VAR_059163 p.Ala2108Val Polymorphism rs7522925 -
FLG P20930 VAR_059164 p.Tyr2119His Polymorphism rs7512553 -
FLG P20930 VAR_059165 p.Tyr2194His Polymorphism rs2184953 -
FLG P20930 VAR_059166 p.Gly2545Arg Polymorphism rs3126072 -
FLG P20930 VAR_059167 p.Tyr3105Asp Polymorphism rs2065958 -
FLG P20930 VAR_059168 p.Val3179Gly Polymorphism rs2065957 -
FLG P20930 VAR_059169 p.Trp3503Gly Polymorphism rs12728908 -
FLG P20930 VAR_059170 p.Arg3564His Polymorphism rs7518080 -
FLG P20930 VAR_059171 p.Glu3593Asp Polymorphism rs12083389 -
FLG P20930 VAR_059172 p.His3630Tyr Polymorphism rs9436065 -
FLG P20930 VAR_061049 p.Gly332Val Polymorphism rs41267154 -
FLG P20930 VAR_061050 p.Gly444Arg Polymorphism rs11588170 -
FLG P20930 VAR_061051 p.Ser742Tyr Polymorphism rs3120654 -
FLG P20930 VAR_061052 p.Arg1684His Polymorphism rs12407807 -
FLG2 Q5D862 VAR_042868 p.Leu41Phe Polymorphism rs3818831 -
FLG2 Q5D862 VAR_042869 p.Arg107Gln Polymorphism rs2282304 -
FLG2 Q5D862 VAR_042870 p.Gly137Glu Polymorphism rs6587667 -
FLG2 Q5D862 VAR_042871 p.Arg276Gln Polymorphism rs2282303 -
FLG2 Q5D862 VAR_042872 p.Cys298Ser Polymorphism rs2282302 -
FLG2 Q5D862 VAR_042873 p.Glu723Lys Polymorphism rs16842865 -
FLG2 Q5D862 VAR_042874 p.Tyr881Ser Polymorphism rs12411129 -
FLG2 Q5D862 VAR_042875 p.His1249Arg Polymorphism rs16833974 -
FLG2 Q5D862 VAR_042876 p.Glu1992Asp Polymorphism rs1858484 -
FLG2 Q5D862 VAR_042877 p.Gln2239His Polymorphism rs12736606 -
FLG2 Q5D862 VAR_059173 p.Ser958Tyr Polymorphism rs12411129 -
FLII Q13045 VAR_029258 p.Arg1243His Polymorphism rs8821 -
FLNA P21333 VAR_012831 p.Val320Ala Polymorphism rs1064816 -
FLNA P21333 VAR_012832 p.Phe370Leu Polymorphism rs1064817 -
FLNA P21333 VAR_012833 p.Val552Ala Polymorphism rs730319 -
FLNA P21333 VAR_012834 p.Leu656Phe Disease - Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]
FLNA P21333 VAR_012835 p.Ala1764Thr Disease rs57108893 Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]
FLNA P21333 VAR_015699 p.Glu82Val Disease rs28935169 Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]
FLNA P21333 VAR_015700 p.Pro207Leu Disease rs28935469 Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]
FLNA P21333 VAR_015701 p.Glu254Lys Disease rs28935470 Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
FLNA P21333 VAR_015702 p.Asp1159Ala Disease rs28935471 Frontometaphyseal dysplasia (FMD) [MIM:305620]
FLNA P21333 VAR_015703 p.Ala1188Thr Disease rs28935472 Melnick-Needles syndrome (MNS) [MIM:309350]
FLNA P21333 VAR_015704 p.Ser1199Leu Disease rs28935473 Melnick-Needles syndrome (MNS) [MIM:309350]
FLNA P21333 VAR_015713 p.Gln170Pro Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
FLNA P21333 VAR_015714 p.Leu172Phe Disease - Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]
FLNA P21333 VAR_015715 p.Arg196Gly Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
FLNA P21333 VAR_015716 p.Arg196Trp Disease - Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]
FLNA P21333 VAR_015717 p.Ala200Ser Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
FLNA P21333 VAR_015718 p.Ala273Pro Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
FLNA P21333 VAR_015719 p.Thr555Lys Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
FLNA P21333 VAR_015720 p.Asp1184Glu Disease - Melnick-Needles syndrome (MNS) [MIM:309350]
FLNA P21333 VAR_015721 p.Ser1186Leu Disease - Frontometaphyseal dysplasia (FMD) [MIM:305620]
FLNA P21333 VAR_015723 p.Cys1645Phe Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
FLNA P21333 VAR_022734 p.Ala39Gly Disease - Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]
FLNA P21333 VAR_031305 p.Met102Val Disease - Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]
FLNA P21333 VAR_031306 p.Ala128Val Disease - Periventricular nodular heterotopia type 4 (PVNH4) [MIM:300537]
FLNA P21333 VAR_031307 p.Ser149Phe Disease - Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]
FLNA P21333 VAR_031308 p.Asp203Tyr Disease - Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]
FLNA P21333 VAR_031309 p.Val528Met Disease - Periventricular nodular heterotopia type 1 (PVNH1) [MIM:300049]
FLNA P21333 VAR_031310 p.Ser1012Leu Polymorphism rs17091204 -
FLNA P21333 VAR_031312 p.Gly1728Cys Disease - Frontometaphyseal dysplasia (FMD) [MIM:305620]
FLNA P21333 VAR_032083 p.Ala1419Gly Polymorphism rs35504556 -
FLNA P21333 VAR_058720 p.Cys210Phe Disease - Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
FLNA P21333 VAR_058721 p.Pro1291Leu Disease - FG syndrome type 2 (FGS2) [MIM:300321]
FLNA P21333 VAR_064156 p.Gly288Arg Disease - Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]
FLNA P21333 VAR_064157 p.Pro637Gln Disease - Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]
FLNA P21333 VAR_064158 p.Val711Asp Disease - Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]
FLNB O75369 VAR_017182 p.Val1018Met Polymorphism rs2276742 -
FLNB O75369 VAR_017183 p.Asp1157Asn Polymorphism rs1131356 -
FLNB O75369 VAR_031392 p.Glu1179Lys Polymorphism rs17058845 -
FLNB O75369 VAR_031393 p.Val1471Met Polymorphism rs12632456 -
FLNB O75369 VAR_033069 p.Phe161Cys Disease - Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]
FLNB O75369 VAR_033070 p.Gly168Ser Disease - Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]
FLNB O75369 VAR_033071 p.Leu171Arg Disease - Boomerang dysplasia (BOOMD) [MIM:112310]
FLNB O75369 VAR_033072 p.Ala173Val Disease rs28937586 Atelosteogenesis type 1 (AO1) [MIM:108720]
FLNB O75369 VAR_033073 p.Ser188Pro Disease - Atelosteogenesis type 1 (AO1) [MIM:108720]
FLNB O75369 VAR_033074 p.Met202Val Disease rs28939707 Atelosteogenesis type 1 (AO1) [MIM:108720]
FLNB O75369 VAR_033074 p.Met202Val Disease rs28939707 Atelosteogenesis type 3 (AO3) [MIM:108721]
FLNB O75369 VAR_033075 p.Glu227Lys Disease - Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]
FLNB O75369 VAR_033076 p.Leu234Val Disease - Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]
FLNB O75369 VAR_033077 p.Ser235Pro Disease - Boomerang dysplasia (BOOMD) [MIM:112310]
FLNB O75369 VAR_033078 p.Gly361Ser Disease - Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]
FLNB O75369 VAR_033079 p.Gly363Glu Disease - Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]
FLNB O75369 VAR_033080 p.Gly751Arg Disease rs28937587 Atelosteogenesis type 3 (AO3) [MIM:108721]
FLNB O75369 VAR_033081 p.Leu1431Arg Disease - Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]
FLNB O75369 VAR_033083 p.Gly1586Arg Disease rs28939706 Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]
FLNB O75369 VAR_033084 p.Val1592Asp Disease - Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]
FLNB O75369 VAR_033085 p.Pro1603Leu Disease - Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]
FLNB O75369 VAR_033086 p.Gly1691Ser Disease - Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]
FLNB O75369 VAR_033087 p.Gly1834Arg Disease - Autosomal dominant Larsen syndrome (LRS1) [MIM:150250]
FLNB O75369 VAR_035917 p.Arg566Gln Unclassified - A breast cancer sample
FLNB O75369 VAR_035918 p.Asn663Lys Unclassified - A breast cancer sample
FLNB O75369 VAR_035919 p.Thr703Lys Unclassified - A breast cancer sample
FLNB O75369 VAR_035920 p.Ala1534Gly Unclassified - A breast cancer sample
FLNC Q14315 VAR_015705 p.Arg1567Gln Polymorphism rs2291569 -
FLNC Q14315 VAR_015706 p.Asp1580Gly Polymorphism rs2643766 -
FLNC Q14315 VAR_015707 p.Thr1599Ala Polymorphism rs2643767 -
FLNC Q14315 VAR_015708 p.Lys2135Arg Polymorphism rs1063261 -
FLNC Q14315 VAR_015709 p.Arg2203Pro Polymorphism rs1063262 -
FLNC Q14315 VAR_015710 p.Ser2626Asn Polymorphism rs2639142 -
FLNC Q14315 VAR_015711 p.Lys2637Gln Polymorphism rs2291572 -
FLNC Q14315 VAR_066212 p.Ala193Thr Disease - Myopathy distal type 4 (MPD4) [MIM:614065]
FLNC Q14315 VAR_066213 p.Met251Thr Disease - Myopathy distal type 4 (MPD4) [MIM:614065]
FLOT1 O75955 VAR_048415 p.Ser52Asn Polymorphism rs3180825 -
FLOT2 Q14254 VAR_024375 p.Ala328Thr Polymorphism rs3736238 -
FLRT2 O43155 VAR_050996 p.Arg486Gln Polymorphism rs17646457 -
FLRT3 Q9NZU0 VAR_017152 p.His400Gln Polymorphism rs6079391 -
FLRT3 Q9NZU0 VAR_050997 p.Ala377Thr Polymorphism rs8120693 -
FLRT3 Q9NZU0 VAR_050998 p.Glu460Asp Polymorphism rs35253731 -
FLRT3 Q9NZU0 VAR_064714 p.Ile452Val Unclassified - -
FLT1 P17948 VAR_042045 p.Lys60Thr Polymorphism rs56409818 -
FLT1 P17948 VAR_042046 p.Glu144Lys Polymorphism rs55974987 -
FLT1 P17948 VAR_042047 p.Arg281Gln Polymorphism rs55687105 -
FLT1 P17948 VAR_042048 p.Leu422Ile Unclassified - A lung adenocarcinoma sample
FLT1 P17948 VAR_042049 p.Arg781Gln Unclassified - A glioma low grade oligodendroglioma sample
FLT1 P17948 VAR_042050 p.Met938Val Polymorphism rs35549791 -
FLT1 P17948 VAR_042051 p.Glu982Ala Polymorphism rs35832528 -
FLT1 P17948 VAR_042052 p.Leu1061Val Unclassified - A bladder transitional cell carcinoma sample
FLT1 P17948 VAR_049719 p.Ile128Leu Polymorphism rs35073261 -
FLT3 P36888 VAR_034677 p.Asp7Gly Polymorphism rs12872889 -
FLT3 P36888 VAR_034678 p.Thr227Met Polymorphism rs1933437 -
FLT3 P36888 VAR_042069 p.Val158Ala Polymorphism rs56321896 -
FLT3 P36888 VAR_042070 p.Asp324Asn Polymorphism rs35602083 -
FLT3 P36888 VAR_042071 p.Asp358Val Polymorphism rs34172843 -
FLT3 P36888 VAR_042072 p.Val557Ile Polymorphism rs35958982 -
FLT3 P36888 VAR_054149 p.Val194Met Polymorphism - -
FLT3 P36888 VAR_061291 p.Ile417Leu Polymorphism rs56090538 -
FLT3 P36888 VAR_065679 p.Asp835Glu Unclassified - Acute lymphoblastic leukemia patients
FLT3 P36888 VAR_065680 p.Asp835His Unclassified - Acute lymphoblastic leukemia patients
FLT3 P36888 VAR_065681 p.Asp835Asn Unclassified - Acute lymphoblastic leukemia patients
FLT3 P36888 VAR_065682 p.Asp835Val Unclassified - Acute lymphoblastic leukemia patients
FLT3 P36888 VAR_065683 p.Asp835Tyr Unclassified - Acute lymphoblastic leukemia patients
FLT3 P36888 VAR_065684 p.Ile836Met Unclassified - Acute lymphoblastic leukemia patients
FLT4 P35916 VAR_018407 p.Thr494Ala Polymorphism rs307826 -
FLT4 P35916 VAR_018408 p.Pro641Ser Polymorphism rs55667289 -
FLT4 P35916 VAR_018409 p.Gly857Arg Disease - Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]
FLT4 P35916 VAR_018410 p.His890Gln Polymorphism rs448012 -
FLT4 P35916 VAR_018411 p.Pro954Ser Disease rs34255532 Hemangioma capillary infantile (HCI) [MIM:602089]
FLT4 P35916 VAR_018412 p.His1035Arg Disease - Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]
FLT4 P35916 VAR_018413 p.Arg1041Pro Disease - Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]
FLT4 P35916 VAR_018414 p.Leu1044Pro Disease - Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]
FLT4 P35916 VAR_018415 p.Pro1114Leu Disease - Lymphedema hereditary type 1A (LMPH1A) [MIM:153100]
FLT4 P35916 VAR_018416 p.Pro1137Ser Disease - Hemangioma capillary infantile (HCI) [MIM:602089]
FLT4 P35916 VAR_018417 p.Arg1146His Polymorphism rs1130379 -
FLT4 P35916 VAR_034379 p.Asn527Ser Polymorphism rs35874891 -
FLT4 P35916 VAR_042062 p.Asn149Asp Polymorphism rs34221241 -
FLT4 P35916 VAR_042063 p.Arg378Cys Unclassified - A renal clear cell carcinoma sample
FLT4 P35916 VAR_042064 p.His868Tyr Polymorphism rs35171798 -
FLT4 P35916 VAR_042065 p.Thr1010Ile Unclassified - A metastatic melanoma sample
FLT4 P35916 VAR_042066 p.Arg1031Gln Polymorphism rs56082504 -
FLT4 P35916 VAR_042067 p.Asp1049Asn Polymorphism rs56310180 -
FLT4 P35916 VAR_042068 p.Arg1075Gln Polymorphism - -
FLVCR1 Q9Y5Y0 VAR_050297 p.Ala52Pro Polymorphism rs11120047 -
FLVCR1 Q9Y5Y0 VAR_050298 p.Thr544Met Polymorphism rs3207090 -
FLVCR1 Q9Y5Y0 VAR_065158 p.Asn121Asp Disease - Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
FLVCR1 Q9Y5Y0 VAR_065159 p.Cys192Arg Disease - Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
FLVCR1 Q9Y5Y0 VAR_065160 p.Ala241Thr Disease - Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
FLVCR1 Q9Y5Y0 VAR_065161 p.Gly493Arg Disease - Posterior column ataxia with retinitis pigmentosa (PCARP) [MIM:609033]
FLVCR2 Q9UPI3 VAR_018271 p.Val16Ala Polymorphism rs2287015 -
FLVCR2 Q9UPI3 VAR_050299 p.Ala481Thr Polymorphism rs35126362 -
FLVCR2 Q9UPI3 VAR_064043 p.Pro280Arg Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
FLVCR2 Q9UPI3 VAR_064044 p.Leu398Val Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
FLVCR2 Q9UPI3 VAR_064045 p.Thr430Arg Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
FLVCR2 Q9UPI3 VAR_064410 p.Arg84His Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
FLVCR2 Q9UPI3 VAR_064412 p.Ala326Val Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
FLVCR2 Q9UPI3 VAR_064413 p.Thr352Arg Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
FLVCR2 Q9UPI3 VAR_064414 p.Gly412Arg Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
FLVCR2 Q9UPI3 VAR_064415 p.Thr430Met Disease - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]
FMN1 Q68DA7 VAR_034630 p.Leu686Pro Polymorphism rs2306277 -
FMN2 Q9NZ56 VAR_033932 p.Arg1468His Polymorphism rs3795677 -
FMN2 Q9NZ56 VAR_049094 p.Arg1291Gly Polymorphism rs12732924 -
FMN2 Q9NZ56 VAR_059290 p.Arg1148Gly Polymorphism rs12732924 -
FMNL2 Q96PY5 VAR_032570 p.Tyr352Cys Polymorphism rs34119671 -
FMNL2 Q96PY5 VAR_032571 p.Met504Thr Polymorphism rs11897929 -
FMO1 Q01740 VAR_015358 p.His97Gln Polymorphism rs56841822 -
FMO1 Q01740 VAR_015359 p.Ile303Thr Polymorphism rs28360418 -
FMO1 Q01740 VAR_015360 p.Ile303Val Polymorphism rs16864314 -
FMO1 Q01740 VAR_022204 p.Arg223Gln Polymorphism rs16864310 -
FMO1 Q01740 VAR_022205 p.Ser227Thr Polymorphism - -
FMO1 Q01740 VAR_022206 p.Ile322Val Polymorphism rs28360419 -
FMO1 Q01740 VAR_022207 p.Phe327Leu Polymorphism rs28360420 -
FMO1 Q01740 VAR_022208 p.Lys373Arg Polymorphism rs28360421 -
FMO1 Q01740 VAR_022209 p.Arg474His Polymorphism rs28360433 -
FMO2 Q99518 VAR_014840 p.Asp36Gly Polymorphism rs2020870 -
FMO2 Q99518 VAR_014841 p.Phe81Ser Polymorphism rs2020860 -
FMO2 Q99518 VAR_014842 p.Phe182Ser Polymorphism rs2307492 -
FMO2 Q99518 VAR_014843 p.Ser195Leu Polymorphism rs2020862 -
FMO2 Q99518 VAR_014844 p.Asn413Lys Polymorphism rs2020865 -
FMO2 Q99518 VAR_015361 p.Val59Ile Polymorphism rs55708639 -
FMO2 Q99518 VAR_015362 p.Arg238Gln Polymorphism rs28369895 -
FMO2 Q99518 VAR_015363 p.Arg391Thr Polymorphism rs28369899 -
FMO2 Q99518 VAR_022185 p.Phe69Tyr Polymorphism rs28745274 -
FMO2 Q99518 VAR_022186 p.Glu314Gly Polymorphism rs2020863 -
FMO3 P31513 VAR_002423 p.Met66Ile Disease - Trimethylaminuria (TMAU) [MIM:602079]
FMO3 P31513 VAR_002424 p.Pro153Leu Disease - Trimethylaminuria (TMAU) [MIM:602079]
FMO3 P31513 VAR_002425 p.Glu158Lys Polymorphism rs2266782 -
FMO3 P31513 VAR_002426 p.Val257Met Polymorphism rs1736557 -
FMO3 P31513 VAR_002427 p.Glu308Gly Polymorphism rs2266780 -
FMO3 P31513 VAR_008145 p.Arg492Trp Disease - Trimethylaminuria (TMAU) [MIM:602079]
FMO3 P31513 VAR_008146 p.Ala52Thr Disease - Trimethylaminuria (TMAU) [MIM:602079]
FMO3 P31513 VAR_008147 p.Arg387Leu Disease - Trimethylaminuria (TMAU) [MIM:602079]
FMO3 P31513 VAR_014845 p.Val277Ala Polymorphism rs2066530 -
FMO3 P31513 VAR_014846 p.Glu362Gln Polymorphism rs2066532 -
FMO3 P31513 VAR_015364 p.Asp132His Polymorphism rs12072582 -
FMO3 P31513 VAR_015365 p.Leu360Pro Polymorphism rs28363581 -
FMO3 P31513 VAR_015366 p.Gly503Arg Polymorphism - -
FMO3 P31513 VAR_018345 p.Asp198Glu Polymorphism - -
FMO3 P31513 VAR_018346 p.Arg205Cys Polymorphism rs28363549 -
FMO3 P31513 VAR_037306 p.Glu32Lys Disease - Trimethylaminuria (TMAU) [MIM:602079]
FMO3 P31513 VAR_037307 p.Asn61Ser Disease - Trimethylaminuria (TMAU) [MIM:602079]
FMO3 P31513 VAR_037308 p.Met434Ile Disease - Trimethylaminuria (TMAU) [MIM:602079]
FMO3 P31513 VAR_042705 p.Glu24Asp Unclassified - -
FMO3 P31513 VAR_042706 p.Asn61Lys Unclassified - -
FMO3 P31513 VAR_042707 p.Lys416Asn Unclassified - -
FMO4 P31512 VAR_015367 p.Ile37Thr Polymorphism - -
FMO4 P31512 VAR_015368 p.Val323Ala Polymorphism rs1042767 -
FMO4 P31512 VAR_015369 p.Glu339Gln Polymorphism - -
FMO4 P31512 VAR_022305 p.Gly372Ser Polymorphism - -
FMO4 P31512 VAR_022306 p.Phe536Leu Polymorphism - -
FMO4 P31512 VAR_022307 p.Leu544Arg Polymorphism - -
FMO4 P31512 VAR_049090 p.Thr308Ser Polymorphism rs3737925 -
FMO5 P49326 VAR_015370 p.Pro457Leu Polymorphism - -
FMO5 P49326 VAR_022308 p.Pro400Ala Polymorphism rs28381218 -
FMO5 P49326 VAR_022309 p.Arg506Ser Polymorphism rs28381223 -
FMO6P O60774 VAR_015371 p.Val127Ile Polymorphism - -
FMO6P O60774 VAR_015372 p.Val257Ile Polymorphism - -
FMR1 Q06787 VAR_005234 p.Ile304Asn Disease - Fragile X syndrome (FRAX) [MIM:300624]
FMR1 Q06787 VAR_005235 p.Arg546His Polymorphism - -
FMR1 Q06787 VAR_029278 p.Ala145Ser Polymorphism rs29281 -
FMR1 Q06787 VAR_064507 p.Arg138Gln Unclassified - -
FMR1NB Q8N0W7 VAR_031254 p.Ala142Val Polymorphism rs764631 -
FN1 P02751 VAR_036018 p.Asp940Asn Unclassified - A breast cancer sample
FN1 P02751 VAR_036019 p.Arg1120Pro Unclassified - A breast cancer sample
FN1 P02751 VAR_036020 p.Asp2380Asn Unclassified - A colorectal cancer sample
FN1 P02751 VAR_043917 p.Gln15Leu Polymorphism rs1250259 -
FN1 P02751 VAR_043918 p.Tyr973Cys Disease - Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]
FN1 P02751 VAR_043919 p.Trp1834Arg Disease - Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]
FN1 P02751 VAR_043920 p.Leu1883Arg Disease - Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]
FN1 P02751 VAR_043921 p.Ile1960Val Polymorphism rs1250209 -
FN1 P02751 VAR_056576 p.Ser1467Arg Polymorphism rs11687611 -
FN1 P02751 VAR_056577 p.Ile2121Val Polymorphism rs17449032 -
FN1 P02751 VAR_059529 p.Thr817Pro Polymorphism rs2577301 -
FN1 P02751 VAR_061486 p.Val2170Ile Polymorphism rs1250209 -
FN3KRP Q9HA64 VAR_034057 p.Ala57Val Polymorphism rs3748811 -
FNBP1 Q96RU3 VAR_029388 p.Ser490Asn Polymorphism rs1023000 -
FNBP4 Q8N3X1 VAR_032623 p.Glu125Gly Polymorphism rs34962598 -
FNBP4 Q8N3X1 VAR_032624 p.Thr794Ala Polymorphism rs35040940 -
FNDC1 Q4ZHG4 VAR_031826 p.Thr438Ala Polymorphism rs509648 -
FNDC1 Q4ZHG4 VAR_031827 p.Glu463Gln Polymorphism rs420137 -
FNDC1 Q4ZHG4 VAR_031828 p.Gln1003Glu Polymorphism rs370434 -
FNDC1 Q4ZHG4 VAR_031829 p.Asp1180Glu Polymorphism rs420054 -
FNDC1 Q4ZHG4 VAR_031830 p.Leu1261Pro Polymorphism rs3003174 -
FNDC1 Q4ZHG4 VAR_031831 p.Gln1280Arg Polymorphism rs2501176 -
FNDC1 Q4ZHG4 VAR_031832 p.Thr1504Lys Polymorphism rs386360 -
FNDC1 Q4ZHG4 VAR_031833 p.Thr1574Ala Polymorphism rs7763726 -
FNDC3A Q9Y2H6 VAR_059655 p.Ser107Gly Polymorphism rs34539036 -
FNDC3B Q53EP0 VAR_031856 p.Thr179Ser Polymorphism rs7652177 -
FNDC3B Q53EP0 VAR_035921 p.Pro927Ser Unclassified - A breast cancer sample
FNDC3B Q53EP0 VAR_047814 p.Met1080Val Polymorphism rs2276806 -
FNDC7 Q5VTL7 VAR_042570 p.Ser310Asn Polymorphism rs11582005 -
FNDC7 Q5VTL7 VAR_042571 p.Val354Ala Polymorphism rs4494160 -
FNDC7 Q5VTL7 VAR_042572 p.Asn368Ser Polymorphism rs3006870 -
FNDC7 Q5VTL7 VAR_042573 p.Pro686Leu Polymorphism rs1277017 -
FNDC8 Q8TC99 VAR_031770 p.Ser36Pro Polymorphism rs1871892 -
FNDC8 Q8TC99 VAR_050999 p.Ala127Thr Polymorphism rs12952106 -
FNDC9 Q8TBE3 VAR_047138 p.His50Asn Polymorphism rs17852104 -
FNDC9 Q8TBE3 VAR_047139 p.Val138Ile Polymorphism rs10037485 -
FNDC9 Q8TBE3 VAR_047140 p.Pro166Ala Polymorphism rs17054522 -
FNIP1 Q8TF40 VAR_036824 p.Gly76Cys Polymorphism rs7730228 -
FNIP1 Q8TF40 VAR_036825 p.Ser354Leu Polymorphism rs13177318 -
FNIP1 Q8TF40 VAR_036826 p.Gln648Arg Polymorphism rs26008 -
FNIP1 Q8TF40 VAR_036827 p.Val738Leu Polymorphism rs12109782 -
FNIP1 Q8TF40 VAR_036828 p.Ile844Val Polymorphism rs7717874 -
FNIP2 Q9P278 VAR_045612 p.Thr298Ser Polymorphism rs2276938 -
FOLH1 Q04609 VAR_012736 p.His475Tyr Unclassified - -
FOLH1 Q04609 VAR_024592 p.Tyr75His Polymorphism rs202676 -
FOLH1 Q04609 VAR_028882 p.Val627Leu Polymorphism rs2988342 -
FOLH1 Q04609 VAR_036398 p.Ala23Thr Unclassified - A colorectal cancer sample
FOLH1B Q9HBA9 VAR_059782 p.Asn151Lys Polymorphism rs10830339 -
FOLR1 P15328 VAR_011963 p.Trp160Cys Polymorphism rs1801932 -
FOLR1 P15328 VAR_059284 p.Trp28Arg Polymorphism rs7928649 -
FOLR2 P14207 VAR_036408 p.His236Asn Unclassified - A breast cancer sample
FOSB P53539 VAR_022286 p.Gly33Ser Polymorphism rs28381241 -
FOXA1 P55317 VAR_013457 p.Ala83Thr Polymorphism rs7144658 -
FOXA1 P55317 VAR_013458 p.Ser448Asn Polymorphism - -
FOXA1 P55317 VAR_015183 p.Gly72Ala Polymorphism - -
FOXA1 P55317 VAR_015185 p.Gln185Arg Polymorphism - -
FOXA1 P55317 VAR_055835 p.Gly87Glu Polymorphism rs35220193 -
FOXA2 Q9Y261 VAR_008858 p.Ala328Val Unclassified - -
FOXA3 P55318 VAR_008859 p.Gly91Arg Polymorphism - -
FOXC1 Q12948 VAR_007815 p.Phe112Ser Disease - Iridogoniodysgenesis anomaly (IGDA) [MIM:601631]
FOXC1 Q12948 VAR_007815 p.Phe112Ser Disease - Peters anomaly (PAN) [MIM:604229]
FOXC1 Q12948 VAR_007816 p.Ile126Met Unclassified - -
FOXC1 Q12948 VAR_007817 p.Ser131Leu Unclassified - -
FOXC1 Q12948 VAR_007944 p.Ser82Thr Unclassified - -
FOXC1 Q12948 VAR_007945 p.Ile87Met Unclassified - -
FOXC1 Q12948 VAR_018150 p.Met161Lys Unclassified - -
FOXC1 Q12948 VAR_058722 p.Pro79Leu Unclassified - -
FOXC1 Q12948 VAR_058723 p.Pro79Arg Unclassified - -
FOXC1 Q12948 VAR_058724 p.Pro79Thr Unclassified - -
FOXC1 Q12948 VAR_058725 p.Leu86Phe Unclassified - -
FOXC1 Q12948 VAR_058726 p.Ile91Ser Unclassified - -
FOXC1 Q12948 VAR_058727 p.Ile91Thr Unclassified - -
FOXC1 Q12948 VAR_058728 p.Tyr115Ser Unclassified - -
FOXC1 Q12948 VAR_058729 p.Arg127His Unclassified - -
FOXC1 Q12948 VAR_058730 p.Leu130Phe Disease - Axenfeld-Rieger syndrome type 3 (RIEG3) [MIM:602482]
FOXC1 Q12948 VAR_058731 p.Gly149Asp Unclassified - -
FOXC1 Q12948 VAR_058732 p.Met161Val Unclassified - -
FOXC1 Q12948 VAR_058733 p.Gly165Arg Unclassified - -
FOXC1 Q12948 VAR_058734 p.Arg169Pro Unclassified - -
FOXC2 Q99958 VAR_018418 p.Ser125Leu Disease - Lymphedema-distichiasis (LYD) [MIM:153400]
FOXC2 Q99958 VAR_060950 p.Ser191Phe Polymorphism - -
FOXD2 O60548 VAR_061185 p.Ala368Pro Polymorphism rs2405913 -
FOXD4 Q12950 VAR_028177 p.Ile134Phe Polymorphism rs10959293 -
FOXD4 Q12950 VAR_028178 p.Asp136Gly Polymorphism rs2492216 -
FOXD4 Q12950 VAR_028179 p.Ile152Val Polymorphism rs7031810 -
FOXD4L1 Q9NU39 VAR_059299 p.Val29Ile Polymorphism rs9308683 -
FOXE1 O00358 VAR_008857 p.Ala65Val Disease - Bamforth-Lazarus syndrome (BLS) [MIM:241850]
FOXE1 O00358 VAR_016882 p.Ser57Asn Disease rs28937575 Bamforth-Lazarus syndrome (BLS) [MIM:241850]
FOXE1 O00358 VAR_027508 p.Arg102Cys Unclassified - -
FOXE3 Q13461 VAR_026234 p.Gly196Ala Polymorphism - -
FOXE3 Q13461 VAR_026235 p.Ser300Gly Polymorphism - -
FOXE3 Q13461 VAR_062582 p.Gly49Ala Unclassified - -
FOXE3 Q13461 VAR_062583 p.Met82Val Unclassified - -
FOXE3 Q13461 VAR_062584 p.Arg90Leu Disease - Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]
FOXG1 P55316 VAR_063885 p.Phe215Leu Disease - Congenital variant of Rett syndrome (RTTCV) [MIM:613454]
FOXG1 P55316 VAR_064395 p.Pro109Leu Polymorphism - -
FOXG1 P55316 VAR_064396 p.Arg244Cys Disease - Congenital variant of Rett syndrome (RTTCV) [MIM:613454]
FOXH1 O75593 VAR_011381 p.Ser113Thr Unclassified - Colorectal cancer
FOXH1 O75593 VAR_011382 p.Thr125Ser Unclassified - Colorectal cancer
FOXI1 Q12951 VAR_049160 p.Pro243Ser Polymorphism rs35678180 -
FOXI1 Q12951 VAR_049161 p.Asn362Ser Polymorphism rs3828625 -
FOXJ2 Q9P0K8 VAR_021842 p.Pro310Ser Polymorphism rs2277415 -
FOXJ2 Q9P0K8 VAR_049162 p.Pro229Arg Polymorphism rs35642012 -
FOXJ3 Q9UPW0 VAR_039104 p.Val162Ala Polymorphism rs343376 -
FOXJ3 Q9UPW0 VAR_039105 p.Thr377Pro Polymorphism rs1139978 -
FOXL2 P58012 VAR_015181 p.Gly187Asp Disease - Premature ovarian failure type 3 (POF3) [MIM:608996]
FOXL2 P58012 VAR_015182 p.Pro285Ser Polymorphism - -
FOXL2 P58012 VAR_016883 p.Ile84Ser Disease rs28937884 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_016885 p.Leu106Phe Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_016886 p.Asn109Lys Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_016887 p.Ser217Phe Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_021196 p.Ser58Leu Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_021197 p.Ala66Val Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_021198 p.Glu69Lys Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_021199 p.His104Arg Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_021200 p.Asn105Ser Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_021201 p.Ala179Gly Polymorphism rs7432551 -
FOXL2 P58012 VAR_021202 p.Lys193Arg Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_021203 p.Tyr215Cys Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_021204 p.Tyr258Asn Disease rs28937885 Premature ovarian failure type 3 (POF3) [MIM:608996]
FOXL2 P58012 VAR_046490 p.Met65Val Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_046491 p.Ile80Thr Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_046492 p.Ile84Asn Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_046493 p.Phe90Ser Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_046494 p.Trp98Gly Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_046495 p.Ser101Arg Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_046496 p.Ile102Thr Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_046497 p.Arg103Cys Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_046498 p.Leu106Pro Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_062545 p.Ile63Thr Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_062546 p.Trp98Arg Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_062547 p.Leu108Pro Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXL2 P58012 VAR_062548 p.Cys134Trp Unclassified - Granulosa-cell tumors of the ovary
FOXL2 P58012 VAR_062549 p.Ser217Cys Disease - Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
FOXM1 Q08050 VAR_020024 p.Ser643Pro Polymorphism rs3742076 -
FOXM1 Q08050 VAR_025239 p.Ala402Glu Polymorphism rs28990715 -
FOXM1 Q08050 VAR_025240 p.Phe450Leu Polymorphism rs28919868 -
FOXM1 Q08050 VAR_025241 p.Pro669Arg Polymorphism rs28919869 -
FOXM1 Q08050 VAR_025242 p.Pro673Leu Polymorphism rs28919870 -
FOXN1 O15353 VAR_010376 p.Ala283Val Polymorphism - -
FOXN1 O15353 VAR_020025 p.Arg69Cys Polymorphism rs2071587 -
FOXN1 O15353 VAR_020026 p.Ala599Pro Polymorphism rs532648 -
FOXN1 O15353 VAR_021843 p.Arg411Trp Polymorphism rs2286520 -
FOXN3 O00409 VAR_049163 p.Tyr337His Polymorphism rs1804717 -
FOXN4 Q96NZ1 VAR_059300 p.Pro137Leu Polymorphism rs11609341 -
FOXP1 Q9H334 VAR_065067 p.Ser5Pro Polymorphism - -
FOXP1 Q9H334 VAR_065068 p.Met101Val Polymorphism - -
FOXP1 Q9H334 VAR_065069 p.Pro215Ala Polymorphism - -
FOXP1 Q9H334 VAR_065070 p.Ser261Pro Polymorphism - -
FOXP1 Q9H334 VAR_065071 p.Thr390Ser Polymorphism - -
FOXP1 Q9H334 VAR_065072 p.Val445Met Polymorphism - -
FOXP1 Q9H334 VAR_065073 p.Asn570Ser Polymorphism - -
FOXP1 Q9H334 VAR_065074 p.Asn597Thr Polymorphism - -
FOXP1 Q9H334 VAR_065075 p.Thr613Asn Polymorphism - -
FOXP2 O15409 VAR_012278 p.Arg553His Disease - Speech-language disorder 1 (SPCH1) [MIM:602081]
FOXP3 Q9BZS1 VAR_011331 p.Phe371Cys Disease - Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
FOXP3 Q9BZS1 VAR_011332 p.Ala384Thr Disease - Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
FOXP3 Q9BZS1 VAR_011333 p.Arg397Trp Disease rs28935477 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
FOXP3 Q9BZS1 VAR_023569 p.Ile363Val Disease - Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790]
FOXP4 Q8IVH2 VAR_036219 p.Ala464Thr Unclassified - A breast cancer sample
FOXQ1 Q9C009 VAR_031606 p.Thr60Pro Polymorphism rs9502889 -
FOXQ1 Q9C009 VAR_031607 p.Gln61Pro Polymorphism rs9502890 -
FOXR2 Q6PJQ5 VAR_028731 p.Val286Ala Polymorphism rs2375465 -
FOXRED1 Q96CU9 VAR_030192 p.Ala343Pro Polymorphism rs17855445 -
FOXRED1 Q96CU9 VAR_033856 p.Val145Ile Polymorphism rs34542988 -
FOXRED1 Q96CU9 VAR_051003 p.His380Arg Polymorphism rs7116126 -
FOXRED1 Q96CU9 VAR_064571 p.Asn430Ser Disease - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
FOXRED2 Q8IWF2 VAR_043704 p.Phe179Leu Polymorphism rs760718 -
FOXRED2 Q8IWF2 VAR_043705 p.Asn308Ser Polymorphism rs2277841 -
FOXRED2 Q8IWF2 VAR_043706 p.Lys374Arg Polymorphism rs35813894 -
FOXRED2 Q8IWF2 VAR_043707 p.Glu637Asp Polymorphism rs35748020 -
FOXRED2 Q8IWF2 VAR_062247 p.Arg71Cys Polymorphism rs56767103 -
FOXS1 O43638 VAR_021844 p.Pro292Ala Polymorphism rs2296917 -
FPGS Q05932 VAR_043929 p.Val437Asp Polymorphism rs12686275 -
FPGS Q05932 VAR_043930 p.Ala489Val Polymorphism rs17855900 -
FPGS Q05932 VAR_043931 p.Ser528Thr Polymorphism rs34354111 -
FPGS Q05932 VAR_059305 p.Ile22Val Polymorphism rs10760502 -
FPGS Q05932 VAR_066016 p.Phe13Leu Polymorphism rs11554717 -
FPGS Q05932 VAR_066017 p.Arg466Cys Polymorphism rs35789560 -
FPGS Q05932 VAR_066018 p.Ser499Phe Polymorphism - -
FPGT O14772 VAR_061650 p.Pro448Leu Polymorphism rs55882158 -
FPR1 P21462 VAR_003476 p.Val101Leu Polymorphism rs2070745 -
FPR1 P21462 VAR_003477 p.Asn192Lys Polymorphism rs1042229 -
FPR1 P21462 VAR_003478 p.Glu346Ala Polymorphism rs867228 -
FPR1 P21462 VAR_055915 p.Ile11Thr Polymorphism rs5030878 -
FPR1 P21462 VAR_055916 p.Arg190Trp Polymorphism rs5030880 -
FRA10AC1 Q70Z53 VAR_023237 p.Arg16His Polymorphism rs726817 -
FRA10AC1 Q70Z53 VAR_023238 p.Thr78Arg Polymorphism rs2275438 -
FRA10AC1 Q70Z53 VAR_056872 p.Ser251Phe Polymorphism rs11187583 -
FRAS1 Q86XX4 VAR_055807 p.Asp54His Polymorphism rs17003071 -
FRAS1 Q86XX4 VAR_055808 p.Pro209Ser Polymorphism rs7699637 -
FRAS1 Q86XX4 VAR_055809 p.Tyr228His Polymorphism rs7682296 -
FRAS1 Q86XX4 VAR_055810 p.Ile243Val Polymorphism rs6848030 -
FRAS1 Q86XX4 VAR_055811 p.Ser429Tyr Polymorphism rs6838959 -
FRAS1 Q86XX4 VAR_055812 p.Leu466Ile Polymorphism rs12504081 -
FRAS1 Q86XX4 VAR_055813 p.Met590Thr Polymorphism rs35030041 -
FRAS1 Q86XX4 VAR_055814 p.Ala817Val Polymorphism rs6835769 -
FRAS1 Q86XX4 VAR_055815 p.Thr954Met Polymorphism rs17003166 -
FRAS1 Q86XX4 VAR_055816 p.Gly1022Glu Polymorphism rs17459809 -
FRAS1 Q86XX4 VAR_055817 p.Glu1135Lys Polymorphism rs12512164 -
FRAS1 Q86XX4 VAR_055818 p.Ala1625Val Polymorphism rs17003213 -
FREM1 Q5H8C1 VAR_047317 p.Val439Leu Polymorphism rs2779500 -
FREM1 Q5H8C1 VAR_047318 p.Ile499Val Polymorphism rs1353223 -
FREM1 Q5H8C1 VAR_047319 p.Ser803Tyr Polymorphism rs7023244 -
FREM1 Q5H8C1 VAR_047320 p.Leu863Val Polymorphism rs7041710 -
FREM1 Q5H8C1 VAR_047321 p.Ser1202Arg Polymorphism rs16932300 -
FREM1 Q5H8C1 VAR_047322 p.Asp1273Glu Polymorphism rs7025814 -
FREM1 Q5H8C1 VAR_047323 p.Val1502Met Polymorphism rs10961700 -
FREM1 Q5H8C1 VAR_047324 p.Asn1576Ile Polymorphism rs2101770 -
FREM1 Q5H8C1 VAR_047325 p.Gln2143Pro Polymorphism rs10961689 -
FREM1 Q5H8C1 VAR_047326 p.Val2174Gly Polymorphism rs17856912 -
FREM1 Q5H8C1 VAR_063422 p.Arg649Trp Disease - Bifid nose with or without anorectal and renal anomalies (BNAR) [MIM:608980]
FREM1 Q5H8C1 VAR_063423 p.Gly1440Ser Disease - Bifid nose with or without anorectal and renal anomalies (BNAR) [MIM:608980]
FREM1 Q5H8C1 VAR_066412 p.Leu1324Arg Disease - Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450]
FREM1 Q5H8C1 VAR_066413 p.Val2091Ile Disease - Manitoba oculotrichoanal syndrome (MOTA) [MIM:248450]
FREM2 Q5SZK8 VAR_023201 p.Glu1972Lys Disease - Fraser syndrome (FRASS) [MIM:219000]
FREM2 Q5SZK8 VAR_023202 p.Arg2066Cys Polymorphism rs9548505 -
FREM2 Q5SZK8 VAR_023203 p.Thr2153Ser Polymorphism rs9548506 -
FREM2 Q5SZK8 VAR_023204 p.Thr2326Ile Polymorphism rs9548509 -
FREM2 Q5SZK8 VAR_033933 p.Val770Met Polymorphism rs7327915 -
FREM2 Q5SZK8 VAR_033934 p.Leu868Val Polymorphism rs7329939 -
FREM2 Q5SZK8 VAR_033935 p.Met1039Lys Polymorphism rs2496424 -
FREM2 Q5SZK8 VAR_033936 p.Phe1070Ser Polymorphism rs2496425 -
FREM2 Q5SZK8 VAR_033937 p.Arg1840Trp Polymorphism rs9603422 -
FREM2 Q5SZK8 VAR_037569 p.Ile1045Ser Polymorphism rs17058433 -
FREM2 Q5SZK8 VAR_037570 p.Arg1668His Polymorphism rs1868463 -
FREM2 Q5SZK8 VAR_037571 p.Ala2962Val Polymorphism rs7996253 -
FREM2 Q5SZK8 VAR_061174 p.Arg722Lys Polymorphism rs58363253 -
FREM2 Q5SZK8 VAR_061175 p.Ser745Pro Polymorphism rs2496423 -
FREM3 P0C091 VAR_055819 p.Asp412Asn Polymorphism rs4478130 -
FREM3 P0C091 VAR_059291 p.Asp417Asn Polymorphism rs184496 -
FRG1 Q14331 VAR_033938 p.Lys66Glu Polymorphism rs17406826 -
FRG1 Q14331 VAR_049105 p.Thr19Ala Polymorphism rs17797703 -
FRG2C A6NGY1 VAR_060156 p.Cys12Arg Polymorphism rs13073018 -
FRG2C A6NGY1 VAR_060157 p.Leu210Met Polymorphism rs13096122 -
FRK P42685 VAR_006283 p.Gly122Arg Polymorphism rs3756772 -
FRK P42685 VAR_041702 p.Ile100Val Polymorphism rs34704018 -
FRK P42685 VAR_041703 p.Ser133Leu Polymorphism rs34064900 -
FRMD1 Q8N878 VAR_027099 p.Arg274Cys Polymorphism rs902393 -
FRMD1 Q8N878 VAR_027100 p.Gln456Glu Polymorphism rs1548349 -
FRMD3 A2A2Y4 VAR_048366 p.Asp485Tyr Polymorphism rs4877747 -
FRMD4A Q9P2Q2 VAR_048367 p.Gln242His Polymorphism rs11258565 -
FRMD7 Q6ZUT3 VAR_028951 p.Gly24Glu Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_028952 p.Gly24Arg Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_028953 p.Leu142Arg Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_028954 p.Asn221Asp Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_028955 p.Ala226Thr Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_028956 p.Leu231Val Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_028957 p.Ala266Pro Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_028958 p.Cys271Tyr Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_028959 p.Ser281Leu Polymorphism rs5977625 -
FRMD7 Q6ZUT3 VAR_028960 p.Tyr301Cys Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_028961 p.Ser340Leu Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_028962 p.Arg468His Polymorphism rs6637934 -
FRMD7 Q6ZUT3 VAR_062651 p.Gly24Trp Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_062652 p.Arg146Trp Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_062653 p.Trp225Gly Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_062654 p.Arg229Cys Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_062655 p.Arg229Gly Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_062656 p.Arg261Gly Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_062657 p.Arg261Gln Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_062658 p.Cys271Phe Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_062659 p.His275Pro Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMD7 Q6ZUT3 VAR_062660 p.Gly296Arg Disease - Nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]
FRMPD1 Q5SYB0 VAR_035306 p.Thr6Pro Polymorphism rs3747539 -
FRMPD1 Q5SYB0 VAR_035307 p.Ala44Thr Polymorphism rs2296556 -
FRMPD1 Q5SYB0 VAR_035308 p.Thr50Asn Polymorphism rs7031966 -
FRMPD1 Q5SYB0 VAR_035309 p.Ala225Val Polymorphism rs1359590 -
FRMPD1 Q5SYB0 VAR_035310 p.Tyr846Asp Polymorphism rs34233395 -
FRMPD1 Q5SYB0 VAR_035311 p.Gly1092Glu Polymorphism rs35075933 -
FRMPD1 Q5SYB0 VAR_035445 p.Gly572Asp Unclassified - A breast cancer sample
FRMPD2 Q68DX3 VAR_035446 p.Arg727Trp Unclassified - A colorectal cancer sample
FRMPD2 Q68DX3 VAR_055540 p.Ala20Thr Polymorphism rs11101272 -
FRMPD2 Q68DX3 VAR_055541 p.Lys534Glu Polymorphism rs1864345 -
FRMPD2 Q68DX3 VAR_061034 p.Thr239Met Polymorphism rs55802136 -
FRMPD2 Q68DX3 VAR_065253 p.Thr1021Lys Polymorphism rs1898784 -
FRS2 Q8WU20 VAR_046966 p.Lys303Asn Polymorphism rs12580717 -
FRS2 Q8WU20 VAR_046967 p.Asn449Asp Polymorphism rs35232109 -
FRS3 O43559 VAR_033855 p.Pro221Leu Polymorphism rs3747747 -
FRY Q5TBA9 VAR_053831 p.Gly1968Ser Polymorphism rs2806639 -
FRYL O94915 VAR_053832 p.Ile1878Val Polymorphism rs7670111 -
FRZB Q92765 VAR_014862 p.Arg324Gly Polymorphism rs7775 -
FRZB Q92765 VAR_021411 p.Arg200Trp Polymorphism rs288326 -
FSBP O95073 VAR_019301 p.Arg226Lys Polymorphism rs3136422 -
FSCB Q5H9T9 VAR_035678 p.Thr262Arg Unclassified - A breast cancer sample
FSCB Q5H9T9 VAR_035679 p.Gln764Lys Unclassified - A breast cancer sample
FSCB Q5H9T9 VAR_035680 p.Ser775Leu Unclassified - A breast cancer sample
FSCB Q5H9T9 VAR_056874 p.Pro119Ser Polymorphism rs36083807 -
FSCB Q5H9T9 VAR_056875 p.His195Gln Polymorphism rs3809429 -
FSCB Q5H9T9 VAR_056876 p.Leu380Pro Polymorphism rs3825630 -
FSCB Q5H9T9 VAR_056877 p.Pro409Ser Polymorphism rs1959379 -
FSCB Q5H9T9 VAR_056878 p.Asp423Glu Polymorphism rs3825632 -
FSCB Q5H9T9 VAR_056879 p.Ala642Thr Polymorphism rs8009274 -
FSCN3 Q9NQT6 VAR_022021 p.Ala24Ser Polymorphism rs3779536 -
FSCN3 Q9NQT6 VAR_033939 p.His428Leu Polymorphism rs34394613 -
FSD1 Q9BTV5 VAR_038385 p.Leu232Val Polymorphism rs35139245 -
FSD2 A1L4K1 VAR_051001 p.Lys333Thr Polymorphism rs4779061 -
FSD2 A1L4K1 VAR_051002 p.Glu720Lys Polymorphism rs1108134 -
FSHB P01225 VAR_012047 p.Ser20Ile Polymorphism rs6170 -
FSHB P01225 VAR_033015 p.Cys69Gly Disease rs5030776 Isolated follicle-stimulating hormone deficiency (IFSHD) [MIM:229070]
FSHR P23945 VAR_013903 p.Ala307Thr Polymorphism rs6165 -
FSHR P23945 VAR_013904 p.Ser524Arg Polymorphism rs6167 -
FSHR P23945 VAR_013905 p.Asn680Ser Polymorphism rs6166 -
FSHR P23945 VAR_017244 p.Thr449Ile Disease rs28928870 Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
FSHR P23945 VAR_017245 p.Asp567Asn Disease rs28928871 Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
FSHR P23945 VAR_018045 p.Ile160Thr Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
FSHR P23945 VAR_018046 p.Ala189Val Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
FSHR P23945 VAR_018047 p.Ala419Thr Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
FSHR P23945 VAR_018048 p.Arg573Cys Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
FSHR P23945 VAR_018049 p.Phe591Ser Unclassified - Ovarian sex cord tumor
FSHR P23945 VAR_039279 p.Ser128Tyr Disease - Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
FSHR P23945 VAR_039280 p.Asp224Val Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
FSHR P23945 VAR_039281 p.Pro348Arg Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
FSHR P23945 VAR_039282 p.Thr449Ala Disease - Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
FSHR P23945 VAR_039283 p.Pro519Thr Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
FSHR P23945 VAR_039284 p.Ile545Thr Disease - Ovarian hyperstimulation syndrome (OHSS) [MIM:608115]
FSHR P23945 VAR_039285 p.Asp567Gly Unclassified - -
FSHR P23945 VAR_039286 p.Leu601Val Disease - Ovarian dysgenesis type 1 (ODG1) [MIM:233300]
FSIP1 Q8NA03 VAR_038124 p.Asn64Asp Polymorphism rs1166719 -
FSIP1 Q8NA03 VAR_038125 p.Arg354His Polymorphism rs937961 -
FSIP1 Q8NA03 VAR_038126 p.Glu374Gly Polymorphism rs16969673 -
FSIP1 Q8NA03 VAR_038127 p.Cys402Arg Polymorphism rs10152640 -
FSIP1 Q8NA03 VAR_038128 p.Leu411Phe Polymorphism rs12908846 -
FSIP1 Q8NA03 VAR_038129 p.Gly528Ala Polymorphism rs16969386 -
FSIP2 Q5CZC0 VAR_042938 p.Met306Val Polymorphism rs9808218 -
FST P19883 VAR_049091 p.Glu152Gln Polymorphism rs11745088 -
FSTL4 Q6MZW2 VAR_027727 p.Arg158His Polymorphism rs17683306 -
FSTL4 Q6MZW2 VAR_027728 p.Thr757Met Polymorphism rs3749817 -
FSTL5 Q8N475 VAR_036135 p.Leu92Ile Unclassified - A colorectal cancer sample
FSTL5 Q8N475 VAR_049092 p.Asp711Tyr Polymorphism rs3749598 -
FSTL5 Q8N475 VAR_049093 p.Lys815Glu Polymorphism rs17040982 -
FTCD O95954 VAR_015887 p.Arg135Cys Disease rs28941768 Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]
FTCD O95954 VAR_015888 p.Arg299Pro Disease - Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]
FTCD O95954 VAR_015889 p.Ala438Glu Polymorphism - -
FTH1P19 P0C7X4 VAR_045633 p.Arg17His Polymorphism rs7058438 -
FTH1P19 P0C7X4 VAR_045634 p.Ala106Pro Polymorphism rs7055365 -
FTHL17 Q9BXU8 VAR_033929 p.Gln120His Polymorphism rs16989319 -
FTHL17 Q9BXU8 VAR_049060 p.Tyr138His Polymorphism rs17340519 -
FTL P02792 VAR_026633 p.Ala96Thr Disease - Neurodegeneration with brain iron accumulation type 3 (NBIA3) [MIM:606159]
FTO Q9C0B1 VAR_032078 p.Ala405Val Polymorphism rs16952624 -
FTO Q9C0B1 VAR_063252 p.Arg316Gln Disease - Growth retardation developmental delay coarse facies and early death (GDFD) [MIM:612938]
FTSJ3 Q8IY81 VAR_023284 p.Gln91Glu Polymorphism rs2584625 -
FTSJ3 Q8IY81 VAR_023285 p.Ser424Cys Polymorphism rs2727288 -
FTSJD1 Q8IYT2 VAR_039998 p.Leu60Phe Polymorphism rs3096380 -
FTSJD1 Q8IYT2 VAR_039999 p.Phe163Tyr Polymorphism rs17853360 -
FTSJD1 Q8IYT2 VAR_040000 p.Asn416Ser Polymorphism rs3803704 -
FTSJD1 Q8IYT2 VAR_040001 p.Thr608Lys Polymorphism rs3096381 -
FTSJD1 Q8IYT2 VAR_040002 p.Phe753Leu Polymorphism rs16970857 -
FUBP1 Q96AE4 VAR_049679 p.Ile399Lys Polymorphism rs12748509 -
FUCA1 P04066 VAR_002442 p.Gly65Asp Disease - Fucosidosis (FUCA1D) [MIM:230000]
FUCA1 P04066 VAR_002443 p.Ser68Leu Disease - Fucosidosis (FUCA1D) [MIM:230000]
FUCA1 P04066 VAR_002444 p.Gln286Arg Polymorphism rs13551 -
FUCA1 P04066 VAR_016233 p.Pro10Arg Polymorphism rs2070956 -
FUCA1 P04066 VAR_016234 p.Cys269Ser Polymorphism rs1126512 -
FUCA1 P04066 VAR_016235 p.Leu410Arg Disease - Fucosidosis (FUCA1D) [MIM:230000]
FUCA1 P04066 VAR_049106 p.Arg2Trp Polymorphism rs2070955 -
FUCA1 P04066 VAR_049107 p.Pro146Leu Polymorphism rs2228424 -
FUCA1 P04066 VAR_049108 p.Val260Ile Polymorphism rs665 -
FUCA2 Q9BTY2 VAR_022444 p.Met356Val Polymorphism rs3762002 -
FUCA2 Q9BTY2 VAR_022445 p.His371Tyr Polymorphism rs3762001 -
FUCA2 Q9BTY2 VAR_055822 p.Ala233Glu Polymorphism rs11155297 -
FUK Q8N0W3 VAR_021327 p.Val146Met Polymorphism rs17881323 -
FUK Q8N0W3 VAR_021328 p.Ala521Thr Polymorphism rs17881069 -
FUK Q8N0W3 VAR_021329 p.Arg571His Polymorphism rs17886171 -
FUK Q8N0W3 VAR_021330 p.Pro701Leu Polymorphism rs17883716 -
FUK Q8N0W3 VAR_021331 p.Ala858Thr Polymorphism rs17884050 -
FUK Q8N0W3 VAR_021332 p.Val861Met Polymorphism rs17878599 -
FUK Q8N0W3 VAR_021333 p.Arg901Trp Polymorphism rs17881635 -
FUK Q8N0W3 VAR_021334 p.Arg939Gln Polymorphism rs17886060 -
FUK Q8N0W3 VAR_021335 p.Arg939Trp Polymorphism rs17883248 -
FURIN P09958 VAR_051821 p.Ala43Val Polymorphism rs16944971 -
FURIN P09958 VAR_055343 p.Trp547Arg Unclassified - -
FUS P35637 VAR_035481 p.Lys312Gln Unclassified - A breast cancer sample
FUS P35637 VAR_054837 p.Arg244Cys Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
FUS P35637 VAR_054838 p.Arg514Gly Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
FUS P35637 VAR_054839 p.Arg514Ser Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
FUS P35637 VAR_054840 p.Gly515Cys Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
FUS P35637 VAR_054841 p.His517Gln Unclassified - -
FUS P35637 VAR_054842 p.Arg518Lys Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
FUS P35637 VAR_054843 p.Arg521Cys Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
FUS P35637 VAR_054844 p.Arg521Gly Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
FUS P35637 VAR_054845 p.Arg521His Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
FUS P35637 VAR_054846 p.Arg522Gly Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
FUS P35637 VAR_054847 p.Arg524Ser Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
FUS P35637 VAR_054848 p.Arg524Thr Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
FUS P35637 VAR_054849 p.Pro525Leu Disease - Amyotrophic lateral sclerosis type 6 (ALS6) [MIM:608030]
FUS P35637 VAR_065229 p.Met254Val Unclassified - -
FUT1 P19526 VAR_003417 p.Tyr154Cys Unclassified - -
FUT1 P19526 VAR_003418 p.Trp171Cys Unclassified - -
FUT1 P19526 VAR_003419 p.Val259Glu Unclassified - -
FUT1 P19526 VAR_003420 p.Ala315Val Unclassified - -
FUT1 P19526 VAR_003421 p.Trp349Cys Unclassified - -
FUT1 P19526 VAR_009708 p.Leu164His Unclassified - -
FUT1 P19526 VAR_009709 p.Leu242Arg Polymorphism rs28934588 -
FUT1 P19526 VAR_020536 p.Asp148Tyr Polymorphism rs56346833 -
FUT1 P19526 VAR_020537 p.Tyr154His Polymorphism rs55678037 -
FUT1 P19526 VAR_020538 p.Tyr241His Polymorphism rs55907428 -
FUT1 P19526 VAR_020539 p.Glu348Lys Polymorphism rs56131151 -
FUT1 P19526 VAR_022268 p.Ala12Val Polymorphism rs2071699 -
FUT10 Q6P4F1 VAR_034759 p.Leu59Phe Polymorphism rs16880994 -
FUT10 Q6P4F1 VAR_034760 p.Tyr268His Polymorphism rs16880853 -
FUT10 Q6P4F1 VAR_034761 p.Leu368Val Polymorphism rs17855838 -
FUT10 Q6P4F1 VAR_034762 p.Arg371Pro Polymorphism rs17855839 -
FUT11 Q495W5 VAR_034763 p.Ser51Ala Polymorphism rs17853514 -
FUT2 Q10981 VAR_003422 p.Ile25Val Polymorphism rs1800021 -
FUT2 Q10981 VAR_003423 p.Arg138Cys Polymorphism rs1800022 -
FUT2 Q10981 VAR_003424 p.Ile140Phe Polymorphism rs1047781 -
FUT2 Q10981 VAR_003425 p.Asp172Asn Polymorphism rs1800025 -
FUT2 Q10981 VAR_022187 p.Gly258Ser Polymorphism rs602662 -
FUT3 P21217 VAR_003426 p.Leu20Arg Polymorphism rs28362459 -
FUT3 P21217 VAR_003427 p.Thr105Met Polymorphism rs778986 -
FUT3 P21217 VAR_003428 p.Gly170Ser Polymorphism rs28362464 -
FUT3 P21217 VAR_003429 p.Asp336Ala Unclassified - -
FUT3 P21217 VAR_003430 p.Ile356Lys Polymorphism rs3894326 -
FUT3 P21217 VAR_007959 p.Trp68Arg Polymorphism rs812936 -
FUT3 P21217 VAR_007960 p.Gln102Lys Polymorphism rs59796499 -
FUT3 P21217 VAR_007961 p.Ser124Ala Unclassified - -
FUT3 P21217 VAR_007962 p.Asp162Asn Polymorphism rs28362463 -
FUT3 P21217 VAR_007963 p.Gly223Arg Polymorphism rs28362466 -
FUT3 P21217 VAR_007964 p.Val270Met Polymorphism rs28381968 -
FUT3 P21217 VAR_022200 p.Gly5Ser Polymorphism rs28362458 -
FUT3 P21217 VAR_022201 p.Arg160Cys Polymorphism rs28362462 -
FUT3 P21217 VAR_022202 p.Thr325Met Polymorphism rs28381969 -
FUT3 P21217 VAR_022203 p.Arg327Gln Polymorphism rs28381970 -
FUT4 P22083 VAR_055844 p.Ile255Val Polymorphism rs2230273 -
FUT5 Q11128 VAR_022122 p.Pro187Leu Polymorphism rs778970 -
FUT5 Q11128 VAR_055845 p.Thr338Met Polymorphism rs4807054 -
FUT6 P51993 VAR_024463 p.Pro124Ser Polymorphism rs778805 -
FUT6 P51993 VAR_024464 p.Gln230Lys Polymorphism rs364637 -
FUT6 P51993 VAR_065915 p.Leu244Val Unclassified - -
FUT6 P51993 VAR_065916 p.Glu247Lys Polymorphism rs17855739 -
FUT6 P51993 VAR_065917 p.Arg303Gly Polymorphism rs61147939 -
FUT8 Q9BYC5 VAR_033537 p.Thr267Lys Polymorphism rs35949016 -
FUT8 Q9BYC5 VAR_054038 p.Lys101Gln Polymorphism rs2229678 -
FUT9 Q9Y231 VAR_024465 p.Thr237Ala Polymorphism rs3811069 -
FUT9 Q9Y231 VAR_030575 p.Trp358Gly Polymorphism rs9986564 -
FUZ Q9BT04 VAR_037615 p.Ala34Ser Polymorphism rs35138412 -
FUZ Q9BT04 VAR_037616 p.Gly175Asp Polymorphism rs35002951 -
FUZ Q9BT04 VAR_037617 p.Thr400Ile Polymorphism rs12610577 -
FXC1 Q9Y5J6 VAR_025665 p.Gly90Ser Polymorphism rs17850713 -
FXC1 Q9Y5J6 VAR_061843 p.Ala66Ser Polymorphism rs60702727 -
FXN Q16595 VAR_002428 p.Asp122Tyr Disease - Friedreich ataxia (FRDA) [MIM:229300]
FXN Q16595 VAR_002429 p.Gly130Val Disease - Friedreich ataxia (FRDA) [MIM:229300]
FXN Q16595 VAR_002430 p.Ile154Phe Disease - Friedreich ataxia (FRDA) [MIM:229300]
FXN Q16595 VAR_002431 p.Trp155Arg Disease - Friedreich ataxia (FRDA) [MIM:229300]
FXN Q16595 VAR_008139 p.Arg165Cys Disease - Friedreich ataxia (FRDA) [MIM:229300]
FXN Q16595 VAR_008140 p.Leu182Phe Disease - Friedreich ataxia (FRDA) [MIM:229300]
FXN Q16595 VAR_016065 p.Leu106Ser Disease - Friedreich ataxia (FRDA) [MIM:229300]
FXN Q16595 VAR_016066 p.Leu198Arg Disease - Friedreich ataxia (FRDA) [MIM:229300]
FXN Q16595 VAR_049100 p.Ser202Cys Polymorphism rs1052195 -
FXR1 P51114 VAR_014890 p.Ala614Val Polymorphism rs11499 -
FXR1 P51114 VAR_016077 p.Asp429Asn Polymorphism rs1051080 -
FXR1 P51114 VAR_036050 p.Ala233Thr Unclassified - A breast cancer sample
FXR2 P51116 VAR_055979 p.Arg591Pro Polymorphism rs36013555 -
FXYD2 P54710 VAR_013280 p.Gly41Arg Disease rs28938168 Hypomagnesemia type 2 (HOMG2) [MIM:154020]
FXYD3 Q14802 VAR_049109 p.Gly40Ser Polymorphism rs35578165 -
FXYD5 Q96DB9 VAR_012349 p.Ser35Ala Polymorphism rs1688005 -
FXYD5 Q96DB9 VAR_027959 p.Arg176His Polymorphism rs12110 -
FYB O15117 VAR_056880 p.Pro51Leu Polymorphism rs1642515 -
FYB O15117 VAR_056881 p.Lys332Arg Polymorphism rs3749741 -
FYB O15117 VAR_060592 p.Val672Phe Polymorphism rs379707 -
FYCO1 Q9BQS8 VAR_027006 p.Arg250Gln Polymorphism rs4683158 -
FYCO1 Q9BQS8 VAR_027007 p.Arg282His Polymorphism rs9875356 -
FYCO1 Q9BQS8 VAR_027008 p.Gly321Ala Polymorphism rs3733100 -
FYCO1 Q9BQS8 VAR_027009 p.Thr381Met Polymorphism rs3733101 -
FYCO1 Q9BQS8 VAR_027010 p.Ala679Val Polymorphism rs3796375 -
FYCO1 Q9BQS8 VAR_027011 p.Asn1001Asp Polymorphism rs13059238 -
FYCO1 Q9BQS8 VAR_056882 p.Arg447Cys Polymorphism rs33910087 -
FYCO1 Q9BQS8 VAR_056883 p.Glu994Lys Polymorphism rs34801630 -
FYCO1 Q9BQS8 VAR_065974 p.Leu1376Pro Disease - Cataract congenital autosomal recessive type 2 (CATC2) [MIM:610019]
FYN P06241 VAR_014661 p.Ile445Phe Polymorphism rs1801121 -
FYN P06241 VAR_041704 p.Val243Leu Unclassified - A lung squamous cell carcinoma sample
FYN P06241 VAR_041705 p.Gly410Arg Unclassified - A metastatic melanoma sample
FYN P06241 VAR_041706 p.Asp506Glu Polymorphism rs28763975 -
FYTTD1 Q96QD9 VAR_062411 p.Arg87His Polymorphism rs3205525 -
FZD1 Q9UP38 VAR_049290 p.Val343Met Polymorphism rs3750146 -
FZD4 Q9ULV1 VAR_036413 p.Lys436Thr Unclassified - A colorectal cancer sample
FZD4 Q9ULV1 VAR_038947 p.Met105Val Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_038948 p.Met157Val Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063920 p.Pro33Ser Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063921 p.Gly36Asp Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063922 p.Glu40Gln Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063923 p.His69Tyr Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063924 p.Met105Thr Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063925 p.Ile114Thr Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063926 p.Pro168Ser Polymorphism - -
FZD4 Q9ULV1 VAR_063927 p.Cys181Arg Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063928 p.Lys203Asn Unclassified - -
FZD4 Q9ULV1 VAR_063929 p.Cys204Arg Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063930 p.Cys204Tyr Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063931 p.Met223Lys Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063932 p.Ile256Val Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063933 p.Trp335Cys Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063934 p.Met342Val Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063935 p.Ala370Gly Unclassified - -
FZD4 Q9ULV1 VAR_063936 p.Arg417Gln Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063937 p.Thr445Pro Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063938 p.Gly488Asp Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063939 p.Ser497Phe Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD4 Q9ULV1 VAR_063940 p.Gly525Arg Disease - Vitreoretinopathy exudative type 1 (EVR1) [MIM:133780]
FZD5 Q13467 VAR_049291 p.Pro216Leu Polymorphism rs35994626 -
FZD6 O60353 VAR_047440 p.Met33Val Polymorphism rs827528 -
FZD6 O60353 VAR_047441 p.Met345Leu Polymorphism rs3808553 -
FZD6 O60353 VAR_047442 p.Ala664Glu Polymorphism rs12549394 -
FZD6 O60353 VAR_066398 p.Arg511Cys Disease - Nail disorder non-syndromic congenital type 10 (NDNC10) [MIM:614157]
FZD7 O75084 VAR_033024 p.Gly24Ser Polymorphism - -
FZD7 O75084 VAR_033941 p.Gly196Glu Polymorphism rs34908164 -
FZD7 O75084 VAR_033942 p.Ala487Val Polymorphism rs35600847 -
FZD7 O75084 VAR_049292 p.Gly24Asp Polymorphism rs35111363 -
G2E3 Q7L622 VAR_027273 p.Arg232His Polymorphism rs17096934 -
G3BP2 Q9UN86 VAR_036128 p.Pro434Leu Unclassified - A breast cancer sample
G6B O95866 VAR_051004 p.Arg175Gly Polymorphism rs11575845 -
G6PC P35575 VAR_005237 p.Asp38Val Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005238 p.Trp77Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005239 p.Arg83Cys Disease rs1801175 Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005240 p.Arg83His Disease rs1801176 Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005241 p.Arg83Ile Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005242 p.Glu110Lys Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005243 p.Ala124Thr Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005244 p.Val166Gly Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005245 p.Gly184Glu Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005246 p.Gly188Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005247 p.Leu211Pro Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005248 p.Gly222Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005249 p.Gly266Val Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005250 p.Gly270Val Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005251 p.Arg295Cys Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005253 p.Val338Phe Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_005254 p.Ile341Asn Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_009202 p.Gln20Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_009203 p.Gln54Pro Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_009204 p.Gly81Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_009205 p.Thr108Ile Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_009206 p.Trp156Leu Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_009207 p.Gly188Asp Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_035922 p.Pro116Leu Unclassified - A breast cancer sample
G6PC P35575 VAR_046249 p.Met5Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046250 p.Thr16Ala Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046251 p.Thr16Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046252 p.Trp63Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046253 p.Ala65Pro Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046254 p.Gly68Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046255 p.Lys76Asn Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046256 p.Thr111Ile Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046257 p.Pro113Leu Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046258 p.His119Leu Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046259 p.Gly122Asp Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046260 p.Val166Ala Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046261 p.Arg170Gln Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046262 p.Phe177Cys Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046263 p.Pro178Ser Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046264 p.His179Pro Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046265 p.Gly184Val Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046266 p.Gly188Ser Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046268 p.Tyr209Cys Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046269 p.Trp236Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046270 p.Ala241Thr Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046271 p.Pro257Leu Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046272 p.Asn264Lys Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046273 p.Leu265Pro Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046274 p.Gly270Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046275 p.Gly270Trp Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046276 p.Ser298Pro Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046277 p.Phe322Leu Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_046278 p.Leu345Arg Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_065164 p.Pro178Ala Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC P35575 VAR_065165 p.Thr255Ile Disease - Glycogen storage disease type 1A (GSD1A) [MIM:232200]
G6PC2 Q9NQR9 VAR_043372 p.Ile171Val Polymorphism rs2232322 -
G6PC2 Q9NQR9 VAR_043373 p.Tyr207Ser Polymorphism rs2232323 -
G6PC2 Q9NQR9 VAR_043374 p.Val219Leu Polymorphism rs492594 -
G6PC2 Q9NQR9 VAR_043375 p.Ser324Pro Polymorphism rs2232326 -
G6PC2 Q9NQR9 VAR_043376 p.Pro340Leu Polymorphism rs2232327 -
G6PC2 Q9NQR9 VAR_043377 p.Ser342Cys Polymorphism rs2232328 -
G6PC3 Q9BUM1 VAR_043378 p.Thr216Ile Polymorphism rs34406052 -
G6PC3 Q9BUM1 VAR_055156 p.Leu185Pro Disease - Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]
G6PC3 Q9BUM1 VAR_055157 p.Arg253His Disease - Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]
G6PC3 Q9BUM1 VAR_055158 p.Gly262Arg Disease - Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]
G6PC3 Q9BUM1 VAR_064508 p.Met116Lys Disease - Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]
G6PC3 Q9BUM1 VAR_064509 p.Met116Val Disease - Dursun syndrome (DURSS) [MIM:612541]
G6PC3 Q9BUM1 VAR_064510 p.Arg189Gln Disease - Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]
G6PC3 Q9BUM1 VAR_064511 p.Gly260Arg Disease - Neutropenia severe congenital autosomal recessive type 4 (SCN4) [MIM:612541]
G6PD P11413 VAR_002450 p.Val12Leu Unclassified - -
G6PD P11413 VAR_002451 p.His32Arg Unclassified - -
G6PD P11413 VAR_002453 p.Ala44Gly Unclassified - -
G6PD P11413 VAR_002454 p.Ile48Thr Unclassified - -
G6PD P11413 VAR_002455 p.Asp58Asn Unclassified - -
G6PD P11413 VAR_002456 p.Val68Met Polymorphism rs1050828 -
G6PD P11413 VAR_002457 p.Tyr70His Unclassified - -
G6PD P11413 VAR_002458 p.Leu75Pro Unclassified - -
G6PD P11413 VAR_002459 p.Arg81His Unclassified - -
G6PD P11413 VAR_002460 p.Arg81Cys Unclassified - -
G6PD P11413 VAR_002461 p.Ser106Cys Unclassified - -
G6PD P11413 VAR_002462 p.Asn126Asp Polymorphism rs1050829 -
G6PD P11413 VAR_002463 p.Leu128Pro Unclassified - -
G6PD P11413 VAR_002464 p.Gly131Val Unclassified - -
G6PD P11413 VAR_002465 p.Glu156Lys Unclassified - -
G6PD P11413 VAR_002466 p.Gly163Ser Unclassified - -
G6PD P11413 VAR_002467 p.Gly163Asp Unclassified - -
G6PD P11413 VAR_002468 p.Asn165Asp Unclassified - -
G6PD P11413 VAR_002469 p.Arg166His Unclassified - -
G6PD P11413 VAR_002470 p.Asp176Gly Unclassified - -
G6PD P11413 VAR_002471 p.Asp181Val Polymorphism rs5030872 -
G6PD P11413 VAR_002472 p.Arg182Trp Unclassified - -
G6PD P11413 VAR_002473 p.Ser188Phe Polymorphism rs5030868 -
G6PD P11413 VAR_002474 p.Arg198Cys Unclassified - -
G6PD P11413 VAR_002475 p.Arg198Pro Disease - Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]
G6PD P11413 VAR_002476 p.Met212Val Unclassified - -
G6PD P11413 VAR_002477 p.Val213Leu Unclassified - -
G6PD P11413 VAR_002478 p.Phe216Leu Unclassified - -
G6PD P11413 VAR_002479 p.Arg227Gln Unclassified - -
G6PD P11413 VAR_002480 p.Arg227Leu Unclassified - -
G6PD P11413 VAR_002482 p.Arg257Gly Unclassified - -
G6PD P11413 VAR_002483 p.Glu274Lys Unclassified - -
G6PD P11413 VAR_002484 p.Ser278Phe Unclassified - -
G6PD P11413 VAR_002485 p.Thr279Ser Unclassified - -
G6PD P11413 VAR_002486 p.Asp282His Unclassified - -
G6PD P11413 VAR_002487 p.Arg285His Unclassified - -
G6PD P11413 VAR_002488 p.Val291Met Unclassified - -
G6PD P11413 VAR_002489 p.Glu317Lys Unclassified - -
G6PD P11413 VAR_002490 p.Leu323Pro Unclassified - -
G6PD P11413 VAR_002491 p.Ala335Thr Polymorphism rs5030869 -
G6PD P11413 VAR_002492 p.Leu342Phe Unclassified - -
G6PD P11413 VAR_002493 p.Pro353Ser Unclassified - -
G6PD P11413 VAR_002494 p.Asn363Lys Unclassified - -
G6PD P11413 VAR_002495 p.Cys385Arg Unclassified - -
G6PD P11413 VAR_002496 p.Lys386Glu Unclassified - -
G6PD P11413 VAR_002497 p.Arg387His Unclassified - -
G6PD P11413 VAR_002498 p.Arg387Cys Disease - Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]
G6PD P11413 VAR_002499 p.Arg393His Unclassified - -
G6PD P11413 VAR_002500 p.Val394Leu Disease - Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]
G6PD P11413 VAR_002501 p.Pro396Leu Unclassified - -
G6PD P11413 VAR_002502 p.Glu398Lys Unclassified - -
G6PD P11413 VAR_002503 p.Gly410Cys Unclassified - -
G6PD P11413 VAR_002504 p.Gly410Asp Disease - Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]
G6PD P11413 VAR_002505 p.Glu416Lys Unclassified - -
G6PD P11413 VAR_002506 p.Arg439Pro Disease - Chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]
G6PD P11413 VAR_002507 p.Leu440Phe Unclassified - -
G6PD P11413 VAR_002508 p.Gly447Arg Unclassified - -
G6PD P11413 VAR_002509 p.Gln449His Unclassified - -
G6PD P11413 VAR_002510 p.Arg454Cys Unclassified - -
G6PD P11413 VAR_002511 p.Arg454His Unclassified - -
G6PD P11413 VAR_002512 p.Arg459Leu Unclassified - -
G6PD P11413 VAR_002513 p.Arg459Pro Unclassified - -
G6PD P11413 VAR_002514 p.Arg463His Unclassified - -
G6PD P11413 VAR_002515 p.Gly488Val Unclassified - -
G6PD P11413 VAR_020535 p.Tyr322His Unclassified - -
GAA P10253 VAR_004285 p.Asp91Asn Polymorphism rs1800299 -
GAA P10253 VAR_004286 p.His199Arg Polymorphism rs1042393 -
GAA P10253 VAR_004287 p.Arg223His Polymorphism rs1042395 -
GAA P10253 VAR_004288 p.Leu299Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004289 p.Met318Thr Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004290 p.Trp402Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004291 p.Gly478Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004292 p.Trp481Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004293 p.Met519Thr Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004294 p.Met519Val Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004295 p.Glu521Lys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004296 p.Ser529Val Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004297 p.Pro545Leu Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004298 p.Ser566Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004299 p.Gly576Ala Polymorphism - -
GAA P10253 VAR_004300 p.Gly576Ser Polymorphism rs1800307 -
GAA P10253 VAR_004301 p.Gly643Arg Disease rs28937909 Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004302 p.Asp645Glu Disease rs28940868 Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004303 p.Asp645His Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004304 p.Asp645Asn Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004305 p.Cys647Trp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004306 p.Gly648Ser Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004307 p.Arg672Gln Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004308 p.Arg672Trp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004309 p.Glu689Lys Polymorphism rs1800309 -
GAA P10253 VAR_004310 p.Arg725Trp Disease rs28939100 Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004311 p.Trp746Cys Polymorphism rs1800312 -
GAA P10253 VAR_004312 p.Pro768Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_004313 p.Val780Ile Polymorphism rs1126690 -
GAA P10253 VAR_004314 p.Val816Ile Polymorphism rs1800314 -
GAA P10253 VAR_004317 p.Thr927Ile Polymorphism rs1800315 -
GAA P10253 VAR_004318 p.Val949Asp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_008689 p.Arg600His Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_008690 p.Gly615Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018078 p.Cys103Gly Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018079 p.Gly219Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018080 p.Pro285Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018081 p.Tyr292Cys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018082 p.Gly293Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018083 p.His308Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018084 p.Gly309Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018085 p.Leu312Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018086 p.Leu355Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018087 p.Cys374Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018088 p.Leu405Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018089 p.Tyr455Phe Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018091 p.Gly549Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018092 p.Leu552Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018093 p.Tyr575Ser Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018094 p.Glu579Lys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018095 p.Arg600Cys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018096 p.Gly607Asp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_018097 p.Ala880Asp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029025 p.Leu208Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029026 p.Arg224Trp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029027 p.Ala237Val Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029028 p.Glu262Lys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029029 p.Pro324Leu Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029030 p.Trp330Gly Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029031 p.Pro361Leu Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029032 p.Gly377Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029033 p.Asp404Asn Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029034 p.Met408Val Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029035 p.Arg437Cys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029036 p.Ala445Pro Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029037 p.Asp489Asn Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029038 p.His612Gln Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029039 p.Leu901Gln Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_029040 p.Pro457Leu Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_046467 p.Tyr191Cys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_046468 p.His308Leu Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_046469 p.Arg375Leu Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_046470 p.Gln401Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_046471 p.Pro522Ala Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_046472 p.Arg585Met Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_046473 p.Ser599Tyr Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_046475 p.Ser619Arg Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_046476 p.Gly638Trp Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_046477 p.Arg660His Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_046478 p.Arg672Thr Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAA P10253 VAR_046479 p.Arg702Cys Disease - Glycogen storage disease type 2 (GSD2) [MIM:232300]
GAB1 Q13480 VAR_025261 p.Pro311Leu Polymorphism rs28925904 -
GAB1 Q13480 VAR_036132 p.Tyr83Cys Unclassified - A breast cancer sample
GAB1 Q13480 VAR_036133 p.Thr387Asn Unclassified - A breast cancer sample
GAB1 Q13480 VAR_053096 p.Thr377Ile Polymorphism rs2229879 -
GAB2 Q9UQC2 VAR_020407 p.Pro344Leu Polymorphism rs2279374 -
GAB2 Q9UQC2 VAR_053097 p.Pro320Leu Polymorphism rs2279374 -
GAB3 Q8WWW8 VAR_038917 p.Pro237Ser Polymorphism rs17281349 -
GAB4 Q2WGN9 VAR_053098 p.Leu273Pro Polymorphism rs11703655 -
GABARAPL2 P60520 VAR_049756 p.Val51Ala Polymorphism rs11556291 -
GABBR1 Q9UBS5 VAR_010146 p.Ala20Val Polymorphism rs1805056 -
GABBR1 Q9UBS5 VAR_010147 p.Gly489Ser Polymorphism rs1805057 -
GABBR1 Q9UBS5 VAR_049279 p.Phe645Leu Polymorphism rs2076489 -
GABBR2 O75899 VAR_010148 p.Tyr628Phe Polymorphism - -
GABBR2 O75899 VAR_010149 p.Thr869Ala Polymorphism rs10985765 -
GABBR2 O75899 VAR_049280 p.Leu163Pro Polymorphism rs35449008 -
GABPA Q06546 VAR_020315 p.Ala291Val Polymorphism rs2829897 -
GABPA Q06546 VAR_020316 p.Glu345Lys Polymorphism rs2829900 -
GABPB1 Q06547 VAR_035613 p.Pro31Ala Unclassified - A colorectal cancer sample
GABPB2 Q8TAK5 VAR_039950 p.Val62Ile Polymorphism rs11204774 -
GABRA1 P14867 VAR_013642 p.Ala322Asp Disease - Juvenile myoclonic epilepsy type 5 (EJM5) [MIM:611136]
GABRA4 P48169 VAR_036032 p.Ser516Arg Unclassified - A breast cancer sample
GABRA4 P48169 VAR_046552 p.Ala19Thr Polymorphism rs16859837 -
GABRA4 P48169 VAR_046553 p.Leu26Met Polymorphism rs2229940 -
GABRA6 Q16445 VAR_036033 p.Pro180His Unclassified - A colorectal cancer sample
GABRA6 Q16445 VAR_036782 p.Thr187Met Polymorphism rs3811993 -
GABRA6 Q16445 VAR_036783 p.Pro404Ser Polymorphism rs34907804 -
GABRB1 P18505 VAR_000302 p.His421Gln Polymorphism rs41311286 -
GABRB1 P18505 VAR_035441 p.Ile429Asn Polymorphism rs17852014 -
GABRB3 P28472 VAR_047957 p.Gly32Arg Disease - Childhood absence epilepsy type 5 (ECA5) [MIM:612269]
GABRB3 P28472 VAR_047958 p.Gln173Leu Polymorphism rs17850679 -
GABRB3 P28472 VAR_047959 p.Arg217His Unclassified - -
GABRD O14764 VAR_043151 p.Glu177Ala Disease - Generalized epilepsy with febrile seizures plus type 5 (GEFS+5) [MIM:613060]
GABRD O14764 VAR_043152 p.Arg220Cys Polymorphism - -
GABRD O14764 VAR_043153 p.Arg220His Polymorphism rs41307846 -
GABRE P78334 VAR_048175 p.Ser102Ala Polymorphism rs1139916 -
GABRG1 Q8N1C3 VAR_047056 p.Gly403Glu Polymorphism rs17852913 -
GABRG2 P18507 VAR_014265 p.Arg82Gln Disease rs28933070 Childhood absence epilepsy type 2 (ECA2) [MIM:607681]
GABRG2 P18507 VAR_014265 p.Arg82Gln Disease rs28933070 Familial febrile convulsions type 8 (FEB8) [MIM:611277]
GABRG2 P18507 VAR_014266 p.Lys328Met Disease - Generalized epilepsy with febrile seizures plus type 3 (GEFS+3) [MIM:611277]
GABRG2 P18507 VAR_038602 p.Arg177Gly Disease - Familial febrile convulsions type 8 (FEB8) [MIM:611277]
GABRG2 P18507 VAR_065163 p.His357Arg Polymorphism rs17855003 -
GABRG2 P18507 VAR_065226 p.Asn79Ser Unclassified - -
GABRG3 Q99928 VAR_033957 p.Thr352Ala Polymorphism rs2066712 -
GABRP O00591 VAR_020323 p.Phe391Leu Polymorphism rs1063310 -
GABRP O00591 VAR_036034 p.His416Arg Unclassified - A breast cancer sample
GABRQ Q9UN88 VAR_030761 p.Leu15Ile Polymorphism rs4996045 -
GABRQ Q9UN88 VAR_030762 p.Phe478Ile Polymorphism rs3810651 -
GABRR1 P24046 VAR_024361 p.His27Arg Polymorphism rs1186902 -
GABRR1 P24046 VAR_054426 p.Met26Val Polymorphism rs12200969 -
GAD1 Q99259 VAR_011882 p.Val474Gly Polymorphism rs769403 -
GAD1 Q99259 VAR_011883 p.Arg532Gln Polymorphism rs769402 -
GAD1 Q99259 VAR_011884 p.Phe565Leu Polymorphism rs1049736 -
GAD1 Q99259 VAR_018861 p.Ile228Leu Polymorphism rs45566933 -
GAD1 Q99259 VAR_031021 p.Ser12Cys Disease - Cerebral palsy spastic quadriplegic type 1 (CPSQ1) [MIM:603513]
GAD2 Q05329 VAR_018821 p.Gly12Arg Polymorphism rs8190591 -
GAD2 Q05329 VAR_018822 p.Lys124Asn Polymorphism rs8190600 -
GAD2 Q05329 VAR_018823 p.Lys286Arg Polymorphism rs8190671 -
GAD2 Q05329 VAR_018824 p.Arg375Gln Polymorphism rs8190730 -
GAD2 Q05329 VAR_029176 p.Pro153Gln Polymorphism rs2839672 -
GAD2 Q05329 VAR_029177 p.Gly232Glu Polymorphism rs2839673 -
GAD2 Q05329 VAR_029178 p.Gly326Ala Polymorphism rs2839678 -
GADD45G O95257 VAR_018888 p.Gly112Ser Polymorphism rs3138505 -
GAGE12J A6NER3 VAR_037385 p.Tyr9Cys Polymorphism rs7064096 -
GAGE12J A6NER3 VAR_037386 p.Arg13Ser Polymorphism rs7064105 -
GAGE12J A6NER3 VAR_037387 p.Pro16Arg Polymorphism rs6520418 -
GAGE12J A6NER3 VAR_043979 p.Arg28Gln Polymorphism rs7064530 -
GAK O14976 VAR_040505 p.Ser144Leu Polymorphism - -
GAK O14976 VAR_040506 p.Val580Met Polymorphism rs34255232 -
GAK O14976 VAR_040507 p.Asp787Tyr Polymorphism rs34585705 -
GAK O14976 VAR_040508 p.Gln877Arg Polymorphism - -
GAK O14976 VAR_040509 p.Gly962Asp Unclassified - A lung neuroendocrine carcinoma sample
GAK O14976 VAR_040510 p.Thr1051Met Polymorphism rs35227944 -
GAK O14976 VAR_040511 p.Gln1120His Polymorphism rs55801437 -
GAK O14976 VAR_040512 p.Pro1137Leu Polymorphism rs56169884 -
GAK O14976 VAR_040513 p.Ser1168Asn Polymorphism rs56326341 -
GAK O14976 VAR_040514 p.Lys1265Arg Polymorphism rs2306242 -
GAK O14976 VAR_040515 p.Asp1297Asn Polymorphism rs1134921 -
GAL P22466 VAR_049121 p.Ala16Val Polymorphism rs34725707 -
GAL3ST1 Q99999 VAR_013684 p.Val29Met Polymorphism rs2267161 -
GAL3ST2 Q9H3Q3 VAR_047060 p.Met4Leu Polymorphism rs12469459 -
GAL3ST3 Q96A11 VAR_053988 p.Ala221Asp Polymorphism rs35285455 -
GAL3ST3 Q96A11 VAR_053989 p.Glu410Ala Polymorphism rs4565902 -
GAL3ST4 Q96RP7 VAR_021989 p.Arg353Gln Polymorphism rs3800952 -
GAL3ST4 Q96RP7 VAR_033736 p.Ala467Val Polymorphism rs3823646 -
GALC P54803 VAR_003380 p.Gly111Asp Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003381 p.Gly111Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003382 p.Thr112Ala Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003383 p.Met117Leu Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003384 p.Asp187Val Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003385 p.Gly194Ala Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003386 p.Asp248Asn Polymorphism rs34362748 -
GALC P54803 VAR_003387 p.Ile250Thr Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003388 p.Ala263Thr Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003389 p.Gly284Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003390 p.Gly286Asp Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003391 p.Asn295Thr Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003392 p.Ser303Phe Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003393 p.Pro318Ala Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003394 p.Arg396Trp Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003395 p.Pro400Leu Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003396 p.Thr468Ser Disease rs34134328 Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003397 p.Phe514Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003398 p.Thr529Met Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003399 p.Arg531Cys Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003400 p.Asp544Asn Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003401 p.Ile562Thr Polymorphism rs398607 -
GALC P54803 VAR_003402 p.Val566Gly Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003403 p.Tyr567Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003404 p.Ala592Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003405 p.Ile599Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_003406 p.Ala641Thr Polymorphism rs421262 -
GALC P54803 VAR_003407 p.Leu645Arg Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_013956 p.Gly59Arg Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_013957 p.Ser68Phe Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_013958 p.Arg79His Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_013959 p.Ile82Met Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_013960 p.Arg184Cys Polymorphism rs1805078 -
GALC P54803 VAR_013961 p.Thr278Ile Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_013962 p.Ile305Val Polymorphism rs1805079 -
GALC P54803 VAR_013963 p.Tyr314Cys Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_013964 p.Tyr335Cys Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_013965 p.Trp426Gly Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_013966 p.Arg531His Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_013967 p.Gly553Arg Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_013968 p.Leu634Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_013969 p.Thr668Arg Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_064430 p.Ala21Pro Polymorphism - -
GALC P54803 VAR_064431 p.Gly41Ser Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_064432 p.Glu130Lys Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_064433 p.Pro318Arg Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_064434 p.Gly323Arg Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_064435 p.Ile384Thr Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_064436 p.Arg396Leu Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALC P54803 VAR_064437 p.Tyr490Asn Disease - Leukodystrophy globoid cell (GLD) [MIM:245200]
GALE Q14376 VAR_002539 p.Asn34Ser Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_002540 p.Gly90Glu Disease rs28940882 Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_002541 p.Asp103Gly Disease rs28940883 Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_002542 p.Ala180Val Polymorphism rs3204468 -
GALE Q14376 VAR_002543 p.Leu183Pro Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_002544 p.Lys257Arg Disease rs28940884 Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_002545 p.Leu313Met Disease rs3180383 Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_002546 p.Gly319Glu Disease rs28940885 Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_010058 p.Val94Met Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_037733 p.Ala25Val Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_037734 p.Arg40Cys Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_037735 p.Asp69Glu Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_037736 p.Glu165Lys Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_037737 p.Arg169Trp Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_037738 p.Arg239Trp Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_037739 p.Gly302Asp Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALE Q14376 VAR_037740 p.Arg335His Disease - Epimerase-deficiency galactosemia (EDG) [MIM:230350]
GALK1 P51570 VAR_002547 p.Val32Met Disease - Galactosemia II (GALCT2) [MIM:230200]
GALK1 P51570 VAR_008514 p.Pro28Thr Disease - Galactosemia II (GALCT2) [MIM:230200]
GALK1 P51570 VAR_015746 p.Ala198Val Disease - Galactosemia II (GALCT2) [MIM:230200]
GALK1 P51570 VAR_023486 p.Gly36Arg Disease - Galactosemia II (GALCT2) [MIM:230200]
GALK1 P51570 VAR_023487 p.His44Tyr Disease - Galactosemia II (GALCT2) [MIM:230200]
GALK1 P51570 VAR_023488 p.Arg68Cys Disease - Galactosemia II (GALCT2) [MIM:230200]
GALK1 P51570 VAR_023489 p.Ile184Met Polymorphism - -
GALK1 P51570 VAR_023490 p.Arg239Gln Disease - Galactosemia II (GALCT2) [MIM:230200]
GALK1 P51570 VAR_023491 p.Gly274Asp Polymorphism - -
GALK1 P51570 VAR_023492 p.Thr288Met Disease - Galactosemia II (GALCT2) [MIM:230200]
GALK1 P51570 VAR_023493 p.Val338Ala Polymorphism - -
GALK1 P51570 VAR_023494 p.Gly346Ser Disease - Galactosemia II (GALCT2) [MIM:230200]
GALK1 P51570 VAR_023495 p.Gly349Ser Disease - Galactosemia II (GALCT2) [MIM:230200]
GALK1 P51570 VAR_023496 p.Ala384Pro Disease - Galactosemia II (GALCT2) [MIM:230200]
GALK2 Q01415 VAR_049123 p.Ile182Val Polymorphism rs35507772 -
GALM Q96C23 VAR_024451 p.Asn190Tyr Polymorphism rs6741892 -
GALNS P34059 VAR_007172 p.Gly47Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007173 p.Asp60Asn Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007174 p.Leu67Met Polymorphism rs11862754 -
GALNS P34059 VAR_007175 p.Pro77Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007177 p.Ser80Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007178 p.Arg90Trp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007179 p.Arg94Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007180 p.Arg94Gly Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007181 p.Gly96Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007182 p.Gly96Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007183 p.Phe97Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007184 p.Gln111Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007185 p.Ile113Phe Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007186 p.Pro125Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007187 p.Ser135Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007188 p.Val138Ala Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007189 p.Gly139Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007190 p.Trp141Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007191 p.Pro151Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007192 p.Pro151Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007193 p.Gly155Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007194 p.Phe156Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007195 p.Phe156Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007196 p.His166Gln Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007197 p.Gly168Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007198 p.Ile178Val Polymorphism - -
GALNS P34059 VAR_007199 p.Pro179His Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007200 p.Pro179Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007201 p.Glu185Gly Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007202 p.Thr200Met Polymorphism rs7187889 -
GALNS P34059 VAR_007203 p.Asn204Lys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007204 p.Trp230Gly Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007205 p.Ala231Gly Polymorphism rs34745339 -
GALNS P34059 VAR_007206 p.Gly247Asp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007207 p.Ala257Thr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007208 p.Arg259Gln Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007210 p.Phe284Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007211 p.Ser287Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007212 p.Gly290Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007213 p.Ala291Asp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007214 p.Ala291Thr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007215 p.Ser295Phe Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007216 p.Gly301Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007217 p.Gly309Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007218 p.Thr312Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007219 p.Met318Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007221 p.Met343Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007222 p.Asp344Glu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007223 p.Asp344Asn Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007224 p.Phe346Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007225 p.Ala351Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007226 p.Arg361Gly Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007227 p.Arg376Gln Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007228 p.Arg386Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007229 p.Met391Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007230 p.Ala393Ser Polymorphism rs2303269 -
GALNS P34059 VAR_007231 p.Leu395Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007232 p.Leu395Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007233 p.Asn407His Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007234 p.Trp409Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007235 p.Glu450Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007236 p.Ala459Val Polymorphism - -
GALNS P34059 VAR_007237 p.Asn487Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_007238 p.Val488Met Polymorphism - -
GALNS P34059 VAR_007239 p.Met494Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024873 p.Leu15Met Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024875 p.Gly23Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024876 p.Leu36Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024877 p.Met41Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024878 p.Gly42Glu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024880 p.Ser53Phe Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024881 p.Arg61Trp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024882 p.Phe69Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024884 p.Cys79Tyr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024885 p.Arg94Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024886 p.Ala107Thr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024887 p.Gly116Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024888 p.Trp141Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024889 p.His150Tyr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024890 p.Gly155Glu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024891 p.Ser162Phe Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024892 p.Asn164Thr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024893 p.Phe167Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024894 p.Asp171Ala Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024895 p.Pro179Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024896 p.Ala203Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024897 p.Asp233Asn Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024898 p.Val239Phe Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024899 p.Arg253Trp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024900 p.Glu260Asp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024902 p.Leu307Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024903 p.Lys310Asn Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024904 p.Trp325Cys Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024905 p.Gly340Asp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024906 p.Ser341Arg Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024907 p.Leu345Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024908 p.Leu352Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024909 p.Pro357Leu Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024910 p.Leu369Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024911 p.Arg380Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024912 p.Arg380Thr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024913 p.Arg386His Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024914 p.Asp388Asn Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024915 p.Ala392Val Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024916 p.His398Asp Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024917 p.His401Tyr Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024919 p.Phe452Ile Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024920 p.Ser470Pro Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_024921 p.Pro484Ser Disease - Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
GALNS P34059 VAR_036493 p.Pro510Thr Unclassified - A colorectal cancer sample
GALNT1 Q10472 VAR_033946 p.Tyr414Asp Polymorphism rs34304568 -
GALNT11 Q8NCW6 VAR_019589 p.Pro151Ser Polymorphism rs6464201 -
GALNT11 Q8NCW6 VAR_019590 p.Asp197Tyr Polymorphism rs3778922 -
GALNT12 Q8IXK2 VAR_064352 p.Gly3Glu Polymorphism - -
GALNT12 Q8IXK2 VAR_064353 p.Gly46Arg Polymorphism - -
GALNT12 Q8IXK2 VAR_064354 p.Glu119Val Polymorphism - -
GALNT12 Q8IXK2 VAR_064355 p.Asp261Asn Polymorphism - -
GALNT12 Q8IXK2 VAR_064356 p.Gly272Arg Polymorphism - -
GALNT12 Q8IXK2 VAR_064357 p.Arg297Trp Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812]
GALNT12 Q8IXK2 VAR_064358 p.Asp303Asn Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812]
GALNT12 Q8IXK2 VAR_064359 p.Glu341Asp Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812]
GALNT12 Q8IXK2 VAR_064360 p.Arg373His Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812]
GALNT12 Q8IXK2 VAR_064361 p.Arg382His Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812]
GALNT12 Q8IXK2 VAR_064362 p.Cys479Phe Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812]
GALNT12 Q8IXK2 VAR_064363 p.Thr491Met Disease - Colorectal cancer type 1 (CRCS1) [MIM:608812]
GALNT12 Q8IXK2 VAR_064364 p.Arg552Lys Polymorphism - -
GALNT13 Q8IUC8 VAR_049242 p.Glu59Asp Polymorphism rs34086479 -
GALNT14 Q96FL9 VAR_033948 p.Gln469Lys Polymorphism rs2288101 -
GALNT2 Q10471 VAR_019575 p.Val554Met Polymorphism rs2273970 -
GALNT2 Q10471 VAR_049240 p.Arg245His Polymorphism rs1923950 -
GALNT4 Q8N4A0 VAR_019576 p.Ile270Thr Polymorphism rs2230281 -
GALNT4 Q8N4A0 VAR_019577 p.Val506Ile Polymorphism rs2230283 -
GALNT4 Q8N4A0 VAR_065257 p.Asp51Gly Polymorphism rs17853610 -
GALNT5 Q7Z7M9 VAR_019578 p.Pro77Leu Polymorphism rs3739112 -
GALNT5 Q7Z7M9 VAR_019579 p.Gln489His Polymorphism rs6759356 -
GALNT5 Q7Z7M9 VAR_035991 p.Glu507Asp Unclassified - A breast cancer sample
GALNT5 Q7Z7M9 VAR_035992 p.Leu692Phe Unclassified - A breast cancer sample
GALNT6 Q8NCL4 VAR_019580 p.Val423Ile Polymorphism rs747300 -
GALNT8 Q9NY28 VAR_019581 p.Tyr53Asp Polymorphism rs10849133 -
GALNT8 Q9NY28 VAR_019582 p.Tyr53Asn Polymorphism - -
GALNT8 Q9NY28 VAR_019583 p.Glu267Gly Polymorphism rs34776842 -
GALNT8 Q9NY28 VAR_019584 p.Phe312Ser Polymorphism rs34829532 -
GALNT8 Q9NY28 VAR_019585 p.Ala337Val Polymorphism - -
GALNT8 Q9NY28 VAR_019586 p.Asp438Gly Polymorphism - -
GALNT8 Q9NY28 VAR_019587 p.Val515Phe Polymorphism rs1468556 -
GALNT8 Q9NY28 VAR_019588 p.Val611Met Polymorphism rs34114277 -
GALNT8 Q9NY28 VAR_033947 p.Glu234Lys Polymorphism rs16931676 -
GALNT8 Q9NY28 VAR_049241 p.Asp630Gly Polymorphism rs16931692 -
GALNTL1 Q8N428 VAR_055848 p.Val201Met Polymorphism rs12879377 -
GALNTL1 Q8N428 VAR_061195 p.Pro497Ser Polymorphism rs59840366 -
GALNTL2 Q8N3T1 VAR_019593 p.His510Tyr Polymorphism rs2271077 -
GALNTL2 Q8N3T1 VAR_049243 p.Val68Gly Polymorphism rs36026882 -
GALNTL2 Q8N3T1 VAR_049244 p.Pro151Leu Polymorphism rs11715981 -
GALNTL2 Q8N3T1 VAR_049245 p.Pro324Ala Polymorphism rs12634179 -
GALNTL2 Q8N3T1 VAR_049246 p.Ala432Thr Polymorphism rs17851238 -
GALNTL5 Q7Z4T8 VAR_019592 p.Cys124Arg Polymorphism rs6960270 -
GALP Q9UBC7 VAR_020426 p.Ile72Met Polymorphism rs3745833 -
GALR1 P47211 VAR_003514 p.Trp15Cys Polymorphism rs1143093 -
GALR1 P47211 VAR_014682 p.Ser334Asn Polymorphism rs5376 -
GALR1 P47211 VAR_014683 p.Pro342Leu Polymorphism rs5377 -
GALR3 O60755 VAR_049387 p.Arg342Gly Polymorphism rs8137541 -
GALR3 O60755 VAR_059322 p.Gln349Arg Polymorphism rs8137553 -
GALT P07902 VAR_002548 p.Asp28Tyr Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002549 p.Ile32Asn Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002550 p.Gln38Pro Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002551 p.Val44Leu Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002552 p.Val44Met Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002553 p.Arg51Leu Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002554 p.Gly55Cys Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002555 p.Leu62Met Polymorphism rs1800461 -
GALT P07902 VAR_002556 p.Arg67Cys Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002557 p.Leu74Pro Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002558 p.Ala81Thr Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002559 p.Asn97Ser Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002560 p.Asp98Asn Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002561 p.Asp113Asn Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002562 p.His114Leu Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002563 p.Phe117Ser Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002564 p.Gln118His Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002565 p.Arg123Gly Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002566 p.Arg123Gln Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002567 p.Val125Ala Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002568 p.Lys127Glu Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002569 p.Cys130Tyr Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002570 p.His132Tyr Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002571 p.Ser135Leu Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002572 p.Thr138Met Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002573 p.Leu139Pro Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002574 p.Met142Lys Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002575 p.Met142Val Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002576 p.Ser143Leu Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002577 p.Arg148Gly Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002578 p.Arg148Gln Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002579 p.Arg148Trp Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002580 p.Val150Leu Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002581 p.Val151Ala Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002582 p.Trp154Gly Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002583 p.Phe171Ser Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002584 p.Gly179Asp Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002585 p.Pro183Thr Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002586 p.His184Gln Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002587 p.Gln188Arg Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002588 p.Ser192Asn Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002589 p.Phe194Leu Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002590 p.Leu195Pro Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002591 p.Ile198Met Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002592 p.Ile198Thr Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002593 p.Ala199Thr Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002594 p.Arg201His Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002595 p.Glu203Lys Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002596 p.Tyr209Cys Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002597 p.Tyr209Ser Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002598 p.Gln212His Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002599 p.Leu217Pro Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002600 p.Leu226Pro Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002601 p.Arg231His Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002602 p.Trp249Arg Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002603 p.Tyr251Cys Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002604 p.Tyr251Ser Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002605 p.Arg258Cys Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002606 p.Arg259Trp Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002607 p.Arg262Pro Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002608 p.Leu282Val Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002609 p.Lys285Asn Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002610 p.Leu289Arg Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002611 p.Glu291Lys Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002612 p.Glu308Lys Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002613 p.Asn314Asp Polymorphism rs2070074 -
GALT P07902 VAR_002614 p.Gln317His Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002615 p.Gln317Arg Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002616 p.His319Gln Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002617 p.Ala320Thr Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002618 p.Tyr323Asp Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002619 p.Tyr323His Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002620 p.Pro324Ser Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002621 p.Pro325Leu Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002622 p.Arg328His Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002623 p.Ser329Phe Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002624 p.Ala330Val Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002625 p.Arg333Gly Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002626 p.Arg333Gln Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002627 p.Arg333Trp Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002628 p.Lys334Arg Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002629 p.Met336Leu Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002630 p.Gln344Lys Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_002631 p.Thr350Ala Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_008042 p.Ser45Leu Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_008043 p.Met129Thr Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_008044 p.Trp167Arg Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_008045 p.Arg204Pro Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_008047 p.Arg272Gly Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_008048 p.Phe294Tyr Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_023328 p.Arg51Gln Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_023329 p.Ser135Trp Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_023330 p.Lys229Asn Disease - Galactosemia (GALCT) [MIM:230400]
GALT P07902 VAR_023331 p.Gln252His Disease - Galactosemia (GALCT) [MIM:230400]
GAMT Q14353 VAR_025723 p.Thr209Met Polymorphism rs17851582 -
GAMT Q14353 VAR_058102 p.Trp20Ser Disease - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
GAMT Q14353 VAR_058103 p.Met50Leu Disease - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
GAMT Q14353 VAR_058104 p.His51Pro Disease - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
GAMT Q14353 VAR_058105 p.Ala54Pro Disease - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
GAMT Q14353 VAR_058106 p.Cys169Tyr Disease - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
GAMT Q14353 VAR_058107 p.Leu197Pro Disease - Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
GAN Q9H2C0 VAR_010757 p.Glu486Lys Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_010759 p.Arg15Ser Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_010760 p.Ser52Gly Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_010761 p.Ser79Leu Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_010762 p.Val82Phe Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_010763 p.Arg138His Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_010764 p.Arg269Gln Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_010765 p.Leu309Arg Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_010766 p.Arg545Cys Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_010767 p.Cys570Tyr Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_015560 p.Ile423Thr Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_015680 p.Ile86Phe Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_015681 p.Gly368Arg Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_054113 p.Ala51Pro Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_054114 p.Tyr89Cys Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_054115 p.Val195Phe Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_054116 p.Pro315Leu Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_054117 p.Gly474Arg Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GAN Q9H2C0 VAR_054118 p.Arg545His Disease - Giant axonal neuropathy (GAN) [MIM:256850]
GANAB Q14697 VAR_022086 p.Arg173Gln Polymorphism rs2276295 -
GANAB Q14697 VAR_024529 p.Arg154Trp Polymorphism rs2276296 -
GANAB Q14697 VAR_050272 p.Arg309Cys Polymorphism rs1063445 -
GANC Q8TET4 VAR_018984 p.Leu11Val Polymorphism rs8043515 -
GANC Q8TET4 VAR_018985 p.Gln44Arg Polymorphism rs8024732 -
GANC Q8TET4 VAR_018986 p.Ile153Met Polymorphism - -
GANC Q8TET4 VAR_018987 p.Asp443Glu Polymorphism rs2578652 -
GANC Q8TET4 VAR_018988 p.Phe845Ser Polymorphism rs7181742 -
GANC Q8TET4 VAR_018989 p.Gln848Arg Polymorphism rs7180279 -
GANC Q8TET4 VAR_056237 p.Ile166Val Polymorphism rs16973015 -
GAP43 P17677 VAR_014172 p.Val59Ile Polymorphism rs6291 -
GAP43 P17677 VAR_050271 p.Lys162Glu Polymorphism rs11557762 -
GAPDH P04406 VAR_018889 p.Ala22Gly Polymorphism rs45541435 -
GAPDH P04406 VAR_049218 p.Lys251Asn Polymorphism rs1062429 -
GAPDHS O14556 VAR_049219 p.Asp110Asn Polymorphism rs2285514 -
GAPT Q8N292 VAR_033673 p.Ala83Thr Polymorphism rs35260984 -
GARNL3 Q5VVW2 VAR_037456 p.His108Arg Polymorphism rs11550746 -
GARNL3 Q5VVW2 VAR_037457 p.Ala752Ser Polymorphism rs34608132 -
GARS P41250 VAR_018718 p.Glu125Gly Disease rs28936972 Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472]
GARS P41250 VAR_018719 p.Leu183Pro Disease - Distal spinal muscular neuropathy type 5 (HMN5) [MIM:600794]
GARS P41250 VAR_018720 p.Gly294Arg Disease - Charcot-Marie-Tooth disease type 2D (CMT2D) [MIM:601472]
GARS P41250 VAR_018721 p.Gly580Arg Disease rs28937323 Distal spinal muscular neuropathy type 5 (HMN5) [MIM:600794]
GARS P41250 VAR_054865 p.Pro42Ala Polymorphism rs1049402 -
GARS P41250 VAR_054866 p.Thr268Ile Polymorphism rs2230310 -
GARS P41250 VAR_054867 p.Arg388Gln Polymorphism rs17159287 -
GART P22102 VAR_011817 p.Leu21Phe Polymorphism rs1804387 -
GART P22102 VAR_011818 p.Val421Ile Polymorphism rs8788 -
GART P22102 VAR_011819 p.Asp752Gly Polymorphism rs8971 -
GART P22102 VAR_051882 p.Asp510Gly Polymorphism rs35927582 -
GART P22102 VAR_051883 p.Pro641Ala Polymorphism rs34588874 -
GAS2L1 Q99501 VAR_059974 p.Ser490Gly Polymorphism rs34124440 -
GAS2L2 Q8NHY3 VAR_053100 p.Ala540Thr Polymorphism rs12602590 -
GAS2L2 Q8NHY3 VAR_053101 p.Ala654Val Polymorphism rs3744374 -
GAS2L2 Q8NHY3 VAR_059975 p.Ala164Val Polymorphism rs11654604 -
GAS2L2 Q8NHY3 VAR_062004 p.Arg829Trp Polymorphism rs56386706 -
GAS2L3 Q86XJ1 VAR_033944 p.Leu461Ser Polymorphism rs11834625 -
GAS2L3 Q86XJ1 VAR_033945 p.Pro500Thr Polymorphism rs17030365 -
GAS6 Q14393 VAR_038823 p.Phe41Leu Polymorphism - -
GAS6 Q14393 VAR_038824 p.Ser231Tyr Polymorphism - -
GAS6 Q14393 VAR_038825 p.Val390Met Polymorphism - -
GAS6 Q14393 VAR_038826 p.Gly543Arg Polymorphism - -
GAS6 Q14393 VAR_038827 p.Ser623Leu Polymorphism - -
GAS6 Q14393 VAR_038828 p.Glu655Lys Polymorphism - -
GAS6 Q14393 VAR_038829 p.Arg659Gln Polymorphism - -
GAS8 O95995 VAR_016006 p.Glu199Lys Polymorphism rs868044 -
GAS8 O95995 VAR_049230 p.Arg259Gln Polymorphism rs17178299 -
GAST P01350 VAR_049127 p.Arg3Pro Polymorphism rs34309618 -
GATA1 P15976 VAR_010115 p.Val205Met Disease - X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]
GATA1 P15976 VAR_012706 p.Gly208Ser Disease - X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]
GATA1 P15976 VAR_012707 p.Asp218Gly Disease - X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]
GATA1 P15976 VAR_033114 p.Arg216Gln Disease - X-linked thrombocytopenia with beta-thalassemia (XLTT) [MIM:314050]
GATA1 P15976 VAR_033115 p.Asp218Tyr Disease - X-linked dyserythropoietic anemia and thrombocytopenia (XDAT) [MIM:300367]
GATA2 P23769 VAR_055004 p.Ala164Thr Polymorphism rs2335052 -
GATA2 P23769 VAR_055005 p.Thr235Asn Polymorphism rs35079193 -
GATA2 P23769 VAR_066405 p.Pro254Leu Disease - Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML) [MIM:614172]
GATA2 P23769 VAR_066406 p.Thr354Met Disease - Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML) [MIM:614172]
GATA2 P23769 VAR_066406 p.Thr354Met Disease - Myelodysplastic syndrome (MDS) [MIM:614286]
GATA2 P23769 VAR_066407 p.Arg398Trp Disease - Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency (DCML) [MIM:614172]
GATA2 P23769 VAR_066644 p.Arg361Pro Disease - Lymphedema primary with myelodysplasia (LMPM) [MIM:614038]
GATA2 P23769 VAR_066645 p.Cys373Arg Disease - Lymphedema primary with myelodysplasia (LMPM) [MIM:614038]
GATA3 P23771 VAR_017818 p.Trp274Arg Disease - Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) [MIM:146255]
GATA3 P23771 VAR_019202 p.Gly242Ser Polymorphism rs11567901 -
GATA3 P23771 VAR_033025 p.Arg366Leu Unclassified - A breast cancer sample
GATA4 P43694 VAR_016204 p.Gly296Ser Disease - Atrial septal defect type 2 (ASD2) [MIM:607941]
GATA4 P43694 VAR_038195 p.Ser52Phe Disease - Atrial septal defect type 2 (ASD2) [MIM:607941]
GATA4 P43694 VAR_038196 p.Ser377Gly Polymorphism rs3729856 -
GATAD1 Q8WUU5 VAR_032533 p.Gly54Ser Polymorphism rs10281879 -
GATAD2A Q86YP4 VAR_059308 p.Arg17Gln Polymorphism rs10426883 -
GATAD2A Q86YP4 VAR_059309 p.Asn296Ser Polymorphism rs2288851 -
GATC O43716 VAR_049129 p.Ser3Leu Polymorphism rs17431446 -
GATM P50440 VAR_020305 p.Gln110His Polymorphism rs1288775 -
GBA P04062 VAR_003255 p.Val54Leu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003256 p.Phe76Val Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003257 p.Thr82Ile Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003258 p.Gly85Glu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003259 p.Arg87Trp Disease rs1141814 Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003260 p.Lys118Asn Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003261 p.Gly152Glu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003262 p.Ile158Thr Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003263 p.Arg159Gln Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003264 p.Arg159Trp Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003265 p.Pro161Ser Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003266 p.Thr173Pro Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003267 p.Asp179His Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003268 p.Lys196Gln Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003269 p.Arg209Pro Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003270 p.Ala215Asp Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003271 p.Pro217Ser Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003272 p.Pro221Thr Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003273 p.Trp223Arg Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003274 p.Asn227Ser Disease rs364897 Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003275 p.Asn227Lys Disease rs381418 Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003276 p.Val230Gly Disease rs381427 Gaucher disease type 1 (GD1) [MIM:230800]
GBA P04062 VAR_003277 p.Gly234Glu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003278 p.Ser235Pro Disease rs1064644 Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003279 p.Gly241Arg Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003280 p.Tyr251His Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003281 p.Phe252Ile Disease rs381737 Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003282 p.Phe255Tyr Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003283 p.Ser276Pro Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003284 p.Arg296Gln Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003285 p.Pro305Arg Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003286 p.Arg324Cys Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003287 p.Pro328Leu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003288 p.Lys342Ile Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003289 p.Ala348Val Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003290 p.Trp351Cys Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003291 p.Tyr352His Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003292 p.Asp354His Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003293 p.Ala357Asp Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003294 p.Thr362Ile Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003295 p.Leu363Pro Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003296 p.Gly364Arg Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003297 p.Glu365Lys Disease rs2230288 Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003298 p.Cys381Gly Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003299 p.Arg398Gln Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003300 p.Ser403Thr Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003301 p.Thr408Met Disease rs2230289 Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003302 p.Asn409Ser Disease - Gaucher disease type 1 (GD1) [MIM:230800]
GBA P04062 VAR_003303 p.Gly416Ser Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003304 p.Trp417Gly Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003305 p.Asp419Ala Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003306 p.Asp419Asn Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003307 p.Gly428Glu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003308 p.Pro430Leu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003309 p.Asn431Ile Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003310 p.Val433Leu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003311 p.Asn435Thr Disease - Gaucher disease type 1 (GD1) [MIM:230800]
GBA P04062 VAR_003312 p.Asp438Asn Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003313 p.Asp448His Disease rs1064651 Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003314 p.Asp448Val Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003315 p.Tyr451His Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003316 p.Pro454Arg Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003317 p.Phe456Val Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003318 p.Tyr457Cys Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003319 p.Lys464Glu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003320 p.Leu483Arg Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003321 p.Leu483Pro Disease - Gaucher disease type 1 (GD1) [MIM:230800]
GBA P04062 VAR_003321 p.Leu483Pro Disease - Gaucher disease type 2 (GD2) [MIM:230900]
GBA P04062 VAR_003322 p.Ala485Pro Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003323 p.Ala495Pro Disease rs368060 Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003324 p.Arg502Cys Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003325 p.Leu509Pro Polymorphism - -
GBA P04062 VAR_003326 p.Gly517Ser Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003327 p.Arg535Cys Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_003328 p.Arg535His Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_009033 p.Glu80Lys Disease rs1141808 Gaucher disease type 2 (GD2) [MIM:230900]
GBA P04062 VAR_009034 p.Ser146Leu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_009035 p.Arg170Cys Disease - Gaucher disease type 1 (GD1) [MIM:230800]
GBA P04062 VAR_009035 p.Arg170Cys Disease - Gaucher disease type 2 (GD2) [MIM:230900]
GBA P04062 VAR_009036 p.Arg170Leu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_009037 p.Pro198Leu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_009038 p.Ala229Glu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_009039 p.Gly234Trp Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_009040 p.His294Gln Disease - Gaucher disease type 1 (GD1) [MIM:230800]
GBA P04062 VAR_009041 p.Phe298Leu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_009042 p.Arg324His Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_009043 p.Tyr343Cys Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_009044 p.His350Arg Unclassified - -
GBA P04062 VAR_009045 p.Ala380Thr Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_009046 p.Ser405Asn Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_009047 p.Trp432Arg Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_009048 p.Val437Phe Unclassified - -
GBA P04062 VAR_009049 p.Asn501Lys Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_009050 p.Asp513Tyr Disease - Gaucher disease type 2 (GD2) [MIM:230900]
GBA P04062 VAR_010059 p.Ile200Ser Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010060 p.Gly228Val Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010061 p.Gly241Glu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010062 p.Tyr244Cys Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010063 p.Gly304Asp Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010064 p.Ser310Asn Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010065 p.Val391Leu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010066 p.Arg392Gly Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010067 p.Ser405Gly Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010068 p.Val414Leu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010069 p.Pro426Leu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010070 p.Val437Leu Disease - Gaucher disease type 3 (GD3) [MIM:231000]
GBA P04062 VAR_010071 p.Pro440Leu Disease - Gaucher disease type 1 (GD1) [MIM:230800]
GBA P04062 VAR_010072 p.Ile441Thr Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010073 p.Phe450Ile Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010074 p.Lys452Gln Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_010075 p.Thr530Ile Disease - Gaucher disease type 3 (GD3) [MIM:231000]
GBA P04062 VAR_032197 p.Arg87Gln Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032198 p.Pro161Leu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032199 p.Met162Val Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032200 p.Asp166Val Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032201 p.Ile200Asn Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032202 p.Leu213Phe Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032203 p.Leu224Phe Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032204 p.Gly232Glu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032205 p.Lys237Glu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032206 p.Leu303Ile Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032207 p.Glu388Lys Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032208 p.Arg392Trp Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032209 p.Tyr402Cys Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032210 p.Leu410Val Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032211 p.Asp419His Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032212 p.Asn421Lys Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032213 p.Gly429Arg Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032214 p.Phe436Ser Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032215 p.Met455Val Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032216 p.Leu500Pro Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032217 p.Arg502Pro Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032394 p.Cys55Ser Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032395 p.Asp63Asn Disease - Gaucher disease type 1 (GD1) [MIM:230800]
GBA P04062 VAR_032396 p.Met92Thr Polymorphism rs3205619 -
GBA P04062 VAR_032397 p.Ala129Thr Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032398 p.Asn156Asp Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032399 p.Ile158Ser Disease - Gaucher disease type 1 (GD1) [MIM:230800]
GBA P04062 VAR_032400 p.Thr173Ile Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032401 p.Ala175Glu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032402 p.Pro198Thr Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032403 p.His201Pro Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032404 p.Arg209Cys Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032405 p.Pro221Leu Disease - Gaucher disease type 1 (GD1) [MIM:230800]
GBA P04062 VAR_032406 p.Ala229Thr Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032407 p.Val230Glu Disease - Gaucher disease type 1 (GD1) [MIM:230800]
GBA P04062 VAR_032408 p.Thr270Arg Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032409 p.Phe290Leu Disease - Gaucher disease (GD) [MIM:230800]
GBA P04062 VAR_032410 p.Ser310Gly Polymorphism