humsavar.txt
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UniProt - Swiss-Prot Protein Knowledgebase
SIB Swiss Institute of Bioinformatics; 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: 2013_05 of 01-May-2013
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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: 23598
Polymorphisms: 37497
Unclassified variants: 6396
Total: 67491
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 -
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 -
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 -
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 -
n.a. A6NG73 VAR_046092 p.Ile16Val Polymorphism rs2402730 -
n.a. A6NGZ7 VAR_042887 p.Gly192Arg Polymorphism rs4276583 -
n.a. A6NLB4 VAR_042947 p.Trp263Arg Polymorphism rs11248317 -
n.a. A8MXQ7 VAR_044540 p.Thr509Arg Polymorphism rs4875053 -
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 -
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 -
AADAC P22760 VAR_014798 p.Val281Ile Polymorphism rs1803155 -
AADAT Q8N5Z0 VAR_061005 p.Val243Ile Polymorphism rs56350236 -
AAED1 Q7RTV5 VAR_052598 p.Arg83Lys Polymorphism rs9886834 -
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 - -
AAMDC Q9H7C9 VAR_052696 p.Val92Met Polymorphism rs2186564 -
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]
AAR2 Q9Y312 VAR_048127 p.Pro124Thr Polymorphism rs6121183 -
AARD Q4LEZ3 VAR_043570 p.Gly96Arg Polymorphism rs16889283 -
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 8 (COXPD8) [MIM:614096]
AARS2 Q5JTZ9 VAR_065957 p.Arg592Trp Disease - Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]
AARS P49588 VAR_028204 p.Gly275Asp Polymorphism rs11537667 -
AARS P49588 VAR_063527 p.Arg329His Disease - Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]
AARS P49588 VAR_067084 p.Asn71Tyr Disease - Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]
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 -
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 -
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, 2 (LI2) [MIM:601277]
ABCA12 Q86UK0 VAR_019599 p.Gly1381Glu Disease rs28940268 Ichthyosis, lamellar, 2 (LI2) [MIM:601277]
ABCA12 Q86UK0 VAR_019600 p.Arg1514His Disease rs28940270 Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
ABCA12 Q86UK0 VAR_019600 p.Arg1514His Disease rs28940270 Ichthyosis, lamellar, 2 (LI2) [MIM:601277]
ABCA12 Q86UK0 VAR_019601 p.Glu1539Lys Disease rs28940271 Ichthyosis, lamellar, 2 (LI2) [MIM:601277]
ABCA12 Q86UK0 VAR_019602 p.Gly1651Ser Disease rs28940568 Ichthyosis, lamellar, 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
ABCA12 Q86UK0 VAR_067075 p.Thr345Pro Disease - Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
ABCA12 Q86UK0 VAR_067076 p.Ser387Asn Disease - Ichthyosis harlequin (HI) [MIM:242500]
ABCA12 Q86UK0 VAR_067077 p.Gly1136Asp Disease - Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
ABCA12 Q86UK0 VAR_067078 p.Gly1179Arg Disease - Ichthyosis harlequin (HI) [MIM:242500]
ABCA12 Q86UK0 VAR_067079 p.Trp1235Ser Disease - Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
ABCA12 Q86UK0 VAR_067080 p.Ile1494Thr Disease - Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
ABCA12 Q86UK0 VAR_067081 p.Gly1559Val Disease - Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
ABCA12 Q86UK0 VAR_067082 p.Pro1798Leu Disease - Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
ABCA12 Q86UK0 VAR_067083 p.Thr1980Lys Disease - Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
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 -
ABCA1 O95477 VAR_009145 p.Val399Ala Polymorphism rs9282543 -
ABCA1 O95477 VAR_009146 p.Arg587Trp Disease rs2853574 High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009147 p.Trp590Ser Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009148 p.Gln597Arg Disease rs2853578 High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009150 p.Asn935Ser Disease rs28937313 High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009151 p.Ala937Val Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009152 p.Asp1289Asn Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009153 p.Cys1477Arg Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009154 p.Ile1517Arg Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_009155 p.Asn1800His Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_012618 p.Arg219Lys Polymorphism rs2230806 -
ABCA1 O95477 VAR_012619 p.Arg230Cys Disease rs9282541 High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1 O95477 VAR_012620 p.Ala255Thr Disease - High density lipoprotein deficiency 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 Polymorphism rs138880920 -
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 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_012627 p.Ala1046Asp Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_012628 p.Met1091Thr Disease - High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1 O95477 VAR_012629 p.Glu1172Asp Polymorphism rs33918808 -
ABCA1 O95477 VAR_012630 p.Ser1506Leu Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_012631 p.Lys1587Arg Polymorphism rs2230808 -
ABCA1 O95477 VAR_012632 p.Asn1611Asp Disease - -
ABCA1 O95477 VAR_012633 p.Ser1731Cys Polymorphism - -
ABCA1 O95477 VAR_012635 p.Arg2081Trp Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_012636 p.Pro2150Leu Disease - High density lipoprotein deficiency 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 Polymorphism rs76881554 -
ABCA1 O95477 VAR_017529 p.Pro85Leu Disease - High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1 O95477 VAR_017530 p.Asp1099Tyr Disease rs28933692 High density lipoprotein deficiency 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 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_037969 p.Val1054Ile Polymorphism rs13306072 -
ABCA1 O95477 VAR_037970 p.Arg1680Trp Disease rs137854498 High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_037971 p.Phe2009Ser Disease - High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1 O95477 VAR_062481 p.Pro248Ala Polymorphism - -
ABCA1 O95477 VAR_062482 p.Glu284Lys Disease - High density lipoprotein deficiency 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 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062486 p.Arg496Trp Polymorphism rs147675550 -
ABCA1 O95477 VAR_062487 p.Trp590Leu Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062488 p.Arg638Gln Unclassified - -
ABCA1 O95477 VAR_062489 p.Thr774Ser Polymorphism - -
ABCA1 O95477 VAR_062490 p.Glu815Gly Polymorphism rs145582736 -
ABCA1 O95477 VAR_062491 p.Trp840Arg Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062492 p.Pro1065Ser Polymorphism - -
ABCA1 O95477 VAR_062493 p.Arg1068Cys Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062494 p.Gly1216Val Polymorphism - -
ABCA1 O95477 VAR_062495 p.Arg1341Thr Polymorphism rs147743782 -
ABCA1 O95477 VAR_062496 p.Ser1376Gly Polymorphism - -
ABCA1 O95477 VAR_062497 p.Leu1379Phe Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062498 p.Arg1615Gln Unclassified - -
ABCA1 O95477 VAR_062499 p.Ala1670Thr Unclassified - -
ABCA1 O95477 VAR_062500 p.Arg1680Gln Polymorphism rs150125857 -
ABCA1 O95477 VAR_062501 p.Val1704Asp Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062502 p.Arg1851Gln Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062503 p.Arg1897Trp Unclassified - -
ABCA1 O95477 VAR_062504 p.Arg1901Ser Disease - High density lipoprotein deficiency 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 1 (HDLD1) [MIM:205400]
ABCA1 O95477 VAR_062508 p.Asp2243Glu Polymorphism - -
ABCA1 O95477 VAR_062509 p.Val2244Ile Polymorphism rs144588452 -
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 3 (SMDP3) [MIM:610921]
ABCA3 Q99758 VAR_023498 p.Asn568Asp Disease - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3 Q99758 VAR_023499 p.Leu1553Pro Disease - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3 Q99758 VAR_023500 p.Gln1591Pro Disease rs28936691 Pulmonary surfactant metabolism dysfunction 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008399 p.Arg24His Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008400 p.Cys54Tyr Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008401 p.Gly65Glu Disease - Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008401 p.Gly65Glu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008402 p.Cys75Gly Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008403 p.Asn96Asp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008404 p.Asn96His Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008405 p.Ala192Thr Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008406 p.Arg212Cys Disease - Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008406 p.Arg212Cys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008407 p.Asp249Gly Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008408 p.Thr300Asn Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008409 p.Ser336Cys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008410 p.Tyr340Asp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008411 p.Ala407Val Disease - Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008411 p.Ala407Val Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008412 p.Ser445Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008413 p.Glu471Lys Disease rs1800548 Age-related macular degeneration 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008413 p.Glu471Lys Disease rs1800548 Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008414 p.Asp523Glu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008415 p.Leu541Pro Disease - Cone-rod dystrophy 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008416 p.Arg572Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008417 p.Arg572Gln Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008418 p.Arg602Trp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008419 p.Phe608Ile Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008420 p.Val643Gly Polymorphism - -
ABCA4 P78363 VAR_008421 p.Asp645Asn Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008422 p.Gly818Glu Disease - Age-related macular degeneration 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008422 p.Gly818Glu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008423 p.Trp821Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008424 p.Gly851Asp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008425 p.Gly863Ala Disease - Cone-rod dystrophy 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008426 p.Thr901Ala Polymorphism - -
ABCA4 P78363 VAR_008427 p.Val931Met Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008428 p.Arg943Gln Polymorphism rs1801581 -
ABCA4 P78363 VAR_008429 p.Gln957Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008430 p.Asn965Ser Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008431 p.Gly978Cys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008432 p.Glu1036Lys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008433 p.Ala1038Val Disease - Cone-rod dystrophy 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008434 p.Ser1071Leu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008435 p.Val1072Ala Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008436 p.Glu1087Lys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008437 p.Thr1112Asn Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008438 p.Glu1122Lys Disease - Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008438 p.Glu1122Lys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008439 p.Arg1129Leu Disease rs1801269 Age-related macular degeneration 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008439 p.Arg1129Leu Disease rs1801269 Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008440 p.Leu1201Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008441 p.Asp1204Asn Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008442 p.Pro1314Thr Polymorphism - -
ABCA4 P78363 VAR_008443 p.Pro1380Leu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008444 p.His1406Tyr Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008445 p.Trp1408Leu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008446 p.Trp1408Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008447 p.Thr1428Met Disease rs1800549 Age-related macular degeneration 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008448 p.Val1429Ala Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008449 p.Val1433Ile Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008450 p.Gly1439Asp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008451 p.Phe1440Ser Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008452 p.Pro1486Leu Disease - Stargardt disease 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008454 p.Cys1490Tyr Disease - Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008454 p.Cys1490Tyr Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008455 p.Arg1517Ser Disease rs1800550 Age-related macular degeneration 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008456 p.Thr1526Met Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008457 p.Asp1532Asn Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008458 p.Ile1562Thr Disease rs1762111 Age-related macular degeneration 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008458 p.Ile1562Thr Disease rs1762111 Cone-rod dystrophy 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008459 p.Gly1578Arg Disease rs1800551 Age-related macular degeneration 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008460 p.Leu1631Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008461 p.Arg1640Trp Disease - Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008461 p.Arg1640Trp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008462 p.Tyr1652Asp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008463 p.Ser1696Asn Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008464 p.Gln1703Lys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008465 p.Leu1729Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008466 p.Ala1794Asp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008467 p.Arg1820Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008468 p.His1838Tyr Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008469 p.Arg1843Trp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008470 p.Asn1868Ile Polymorphism rs1801466 -
ABCA4 P78363 VAR_008471 p.Gly1886Glu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008473 p.Arg1898His Disease rs1800552 Age-related macular degeneration 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008473 p.Arg1898His Disease rs1800552 Stargardt disease 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008476 p.Leu1970Phe Disease rs1800554 Age-related macular degeneration 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008476 p.Leu1970Phe Disease rs1800554 Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 P78363 VAR_008477 p.Gly1977Ser Disease - Age-related macular degeneration 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_008477 p.Gly1977Ser Disease - Stargardt disease 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 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008481 p.Val2050Leu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008482 p.Arg2077Trp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008483 p.Glu2096Lys Disease - Stargardt disease 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008485 p.Arg2107His Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008486 p.His2128Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008487 p.Glu2131Lys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008488 p.Arg2139Trp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008489 p.Cys2150Tyr Disease - Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_008489 p.Cys2150Tyr Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008490 p.Lys2160Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_008491 p.Asp2177Asn Polymorphism rs1800555 -
ABCA4 P78363 VAR_008492 p.Ala60Val Disease - Stargardt disease 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 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012496 p.Ala60Glu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012497 p.Ala60Thr Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012498 p.Pro68Leu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012499 p.Pro68Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012500 p.Gly72Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012501 p.Val77Glu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012502 p.Ser100Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012503 p.Arg152Gln Polymorphism - -
ABCA4 P78363 VAR_012504 p.Ile156Val Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012505 p.Gln190His Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012506 p.Ser206Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012507 p.Arg212His Polymorphism rs6657239 -
ABCA4 P78363 VAR_012508 p.Arg220Cys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012509 p.Cys230Ser Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012510 p.Leu244Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012511 p.Asn247Ser Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012512 p.Pro309Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012513 p.Glu328Val Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012514 p.Arg333Trp Disease - Stargardt disease 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012517 p.His423Arg Polymorphism rs3112831 -
ABCA4 P78363 VAR_012518 p.Phe525Cys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012519 p.Arg537Cys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012520 p.Ala549Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012521 p.Gly550Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012522 p.Val552Ile Polymorphism - -
ABCA4 P78363 VAR_012523 p.Arg602Gln Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012524 p.Gly607Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012525 p.Gly607Trp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012526 p.Gln635Lys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012527 p.Gln636His Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012528 p.Val643Met Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012529 p.Arg653Cys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012530 p.Leu686Ser Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012531 p.Thr716Met Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012532 p.Cys764Tyr Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012533 p.Ser765Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012534 p.Ser765Asn Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012535 p.Val767Asp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012536 p.Leu797Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012537 p.Ile824Thr Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012538 p.Val849Ala Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012539 p.Ala854Thr Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012541 p.Phe873Leu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012542 p.Thr897Ile Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012543 p.His914Arg Polymorphism - -
ABCA4 P78363 VAR_012544 p.Val935Ala Disease - Stargardt disease 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012546 p.Thr959Ile Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012547 p.Thr971Asn Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012548 p.Thr972Asn Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012549 p.Ser974Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012550 p.Val989Ala Disease - Stargardt disease 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012553 p.Thr1019Ala Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012554 p.Thr1019Met Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012555 p.Glu1022Lys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012556 p.Lys1031Glu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012557 p.Arg1055Trp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012558 p.Ser1063Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012559 p.Glu1087Asp Disease - Stargardt disease 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 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012563 p.Arg1108His Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012564 p.Arg1108Leu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012565 p.Arg1129Cys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012566 p.Lys1148Thr Polymorphism - -
ABCA4 P78363 VAR_012567 p.Leu1250Pro Disease - Stargardt disease 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012570 p.Leu1388Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012571 p.Glu1399Lys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012572 p.Leu1430Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012573 p.Phe1440Val Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012574 p.Arg1443His Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012575 p.Cys1488Phe Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012576 p.Cys1488Tyr Disease - Stargardt disease 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012579 p.Leu1525Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012580 p.Thr1537Met Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012581 p.Ala1598Asp Disease - Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_012582 p.Ala1637Thr Polymorphism - -
ABCA4 P78363 VAR_012583 p.Arg1640Gln Disease - Cone-rod dystrophy 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012585 p.Ser1689Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012586 p.Val1693Ile Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012587 p.Arg1705Leu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012588 p.Met1733Thr Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012589 p.Ser1736Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012590 p.Gly1748Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012592 p.Leu1763Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012593 p.Pro1776Leu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012594 p.Pro1780Ala Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012595 p.Asn1799Asp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012596 p.Asn1805Asp Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012597 p.Glu1817Asp Polymorphism - -
ABCA4 P78363 VAR_012598 p.Val1884Glu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012599 p.Glu1885Lys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012600 p.Val1896Asp Disease - Stargardt disease 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 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 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012605 p.Leu2035Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012606 p.Gly2059Ala Polymorphism - -
ABCA4 P78363 VAR_012607 p.Leu2060Arg Disease - Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_012608 p.Tyr2071Phe Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012609 p.Arg2077Gly Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012610 p.Arg2107Cys Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012611 p.Gly2146Asp Disease - Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4 P78363 VAR_012612 p.Arg2149Leu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012613 p.Cys2150Arg Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012614 p.Ala2216Val Polymorphism - -
ABCA4 P78363 VAR_012615 p.Leu2229Pro Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012616 p.Leu2241Val Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_012617 p.Arg2263Leu Disease - Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4 P78363 VAR_014703 p.Ser752Ile Polymorphism rs1801369 -
ABCA4 P78363 VAR_035736 p.Thr224Met Unclassified - A breast cancer sample
ABCA4 P78363 VAR_067427 p.Ala762Glu Disease - Age-related macular degeneration 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_067428 p.Trp1724Cys Disease - Age-related macular degeneration 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_067429 p.Ile2047Asn Disease - Age-related macular degeneration 2 (ARMD2) [MIM:153800]
ABCA4 P78363 VAR_067430 p.Cys2137Tyr Disease - Age-related macular degeneration 2 (ARMD2) [MIM:153800]
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 -
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 - Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_010271 p.Glu297Gly Disease - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013332 p.Val284Leu Disease - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013333 p.Val444Ala Polymorphism rs2287622 -
ABCB11 O95342 VAR_013334 p.Lys461Glu Disease - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013335 p.Asp482Gly Disease - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013336 p.Gly982Arg Disease - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013337 p.Gly1004Asp Disease - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013338 p.Arg1153Cys Disease - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_013339 p.Arg1268Gln Disease - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_030386 p.Glu186Gly Disease - Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_030387 p.Ile206Val Polymorphism rs11568357 -
ABCB11 O95342 VAR_030388 p.Gly238Val Disease - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_030389 p.Arg299Lys Polymorphism rs2287617 -
ABCB11 O95342 VAR_030390 p.Cys336Ser Disease - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11 O95342 VAR_030391 p.Arg432Thr Disease - Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_030392 p.Ala570Thr Disease - Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_030393 p.Met677Val Polymorphism rs11568364 -
ABCB11 O95342 VAR_030394 p.Thr923Pro Disease - Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_030395 p.Ala926Pro Disease - Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_030396 p.Arg1050Cys Disease - Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11 O95342 VAR_030397 p.Arg1128His Disease - Cholestasis, benign recurrent intrahepatic, 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 -
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 -
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 - Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4 P21439 VAR_023502 p.Ser320Phe Disease - Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4 P21439 VAR_023503 p.Ala546Asp Disease - Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4 P21439 VAR_023504 p.Pro1168Ser Disease - Gallbladder disease 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 - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043081 p.Arg150Lys Disease - Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4 P21439 VAR_043082 p.Phe165Ile Disease - Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4 P21439 VAR_043083 p.Met301Thr Disease - Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4 P21439 VAR_043084 p.Ser346Ile Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043085 p.Ile367Val Polymorphism - -
ABCB4 P21439 VAR_043086 p.Glu395Gly Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043087 p.Thr424Ala Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043088 p.Val425Met Disease - Cholestasis, progressive familial intrahepatic, 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 - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043092 p.Ile541Phe Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043093 p.Leu556Arg Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043094 p.Asp564Gly Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043095 p.Arg590Gln Polymorphism rs45575636 -
ABCB4 P21439 VAR_043096 p.Leu591Gln Disease - Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4 P21439 VAR_043097 p.Phe711Ser Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4 P21439 VAR_043098 p.Gly742Ser Polymorphism - -
ABCB4 P21439 VAR_043099 p.Gly762Glu Disease - Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4 P21439 VAR_043100 p.Ile764Leu Unclassified - -
ABCB4 P21439 VAR_043101 p.Thr775Met Polymorphism - -
ABCB4 P21439 VAR_043102 p.Ala934Thr Disease - Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4 P21439 VAR_043103 p.Gly983Ser Disease rs56187107 Cholestasis, progressive familial intrahepatic, 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 -
ABCB6 Q9NP58 VAR_067394 p.Ala57Thr Disease - Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]
ABCB6 Q9NP58 VAR_067395 p.Leu811Val Disease - Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]
ABCB7 O75027 VAR_009156 p.Ile400Met Disease - Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB7 O75027 VAR_012640 p.Glu433Lys Disease - Anemia, sideroblastic, spinocerebellar 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 - Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB7 O75027 VAR_037972 p.Val581Ala Polymorphism rs1340989 -
ABCB7 O75027 VAR_055471 p.Ala580Val Polymorphism rs1340989 -
ABCB7 O75027 VAR_067354 p.Glu208Asp Disease - Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
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 -
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 -
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 -
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 rs63750759 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6 O95255 VAR_011495 p.Arg1314Trp Disease rs63750759 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 rs78629019 -
ABCC6 O95255 VAR_013368 p.Lys281Glu Polymorphism rs4780606 -
ABCC6 O95255 VAR_013369 p.Ile319Val Polymorphism rs72657699 -
ABCC6 O95255 VAR_013370 p.Thr364Arg Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013371 p.Asn411Lys Disease rs9930886 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013372 p.Ala455Pro Disease rs67996819 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013373 p.Asn497Lys Polymorphism rs72653770 -
ABCC6 O95255 VAR_013374 p.Arg518Gln Disease rs72653772 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013375 p.Phe568Ser Disease rs66864704 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013376 p.His632Gln Polymorphism rs8058694 -
ABCC6 O95255 VAR_013377 p.Leu673Pro Disease rs67470842 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013378 p.Arg765Gln Disease rs67561842 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013379 p.Leu953His Polymorphism rs72657700 -
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 rs63750607 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013383 p.Trp1241Cys Polymorphism rs72657701 -
ABCC6 O95255 VAR_013384 p.Val1298Phe Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013385 p.Thr1301Ile Disease rs63750494 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013386 p.Gly1302Arg Disease rs63749856 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 rs63749823 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 rs67720869 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_013392 p.Gly1354Arg Disease rs63750018 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 rs63750295 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 -
ABCC6 O95255 VAR_067841 p.Ala78Thr Polymorphism - -
ABCC6 O95255 VAR_067842 p.Glu125Lys Polymorphism rs3853814 -
ABCC6 O95255 VAR_067843 p.Gly129Glu Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067844 p.Ala158Val Polymorphism - -
ABCC6 O95255 VAR_067845 p.Ser317Arg Disease rs78678589 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067846 p.Leu355Arg Disease rs72653758 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6 O95255 VAR_067846 p.Leu355Arg Disease rs72653758 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067848 p.Asn370Asp Disease rs72653760 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067849 p.Arg382Trp Disease rs72653761 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067850 p.Arg391Gly Disease rs72653762 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6 O95255 VAR_067850 p.Arg391Gly Disease rs72653762 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067851 p.Lys392Asn Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067852 p.Ser398Gly Disease rs72653764 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067853 p.Val417Met Polymorphism - -
ABCC6 O95255 VAR_067854 p.Cys440Gly Disease rs72653766 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067855 p.Leu463His Disease rs72653767 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067856 p.Leu495His Disease rs72653769 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067857 p.Val514Ile Polymorphism rs59157279 -
ABCC6 O95255 VAR_067858 p.Ser535Pro Disease rs72653773 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067859 p.Phe551Ser Disease rs72653774 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067860 p.Ser590Phe Disease - Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6 O95255 VAR_067861 p.Ala594Val Disease rs72653776 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067862 p.Arg600Cys Disease rs72653777 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067863 p.Gly663Cys Disease rs72653780 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067864 p.Leu677Pro Disease rs72653782 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067865 p.Gln698Pro Disease rs72653783 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067866 p.Glu699Asp Disease rs72653784 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067867 p.Arg724Lys Polymorphism rs58073789 -
ABCC6 O95255 VAR_067868 p.Arg724Leu Polymorphism - -
ABCC6 O95255 VAR_067869 p.Leu726Pro Disease rs72653785 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067870 p.Ile742Val Polymorphism rs59593133 -
ABCC6 O95255 VAR_067871 p.Met751Lys Disease rs72653786 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067872 p.Gly755Arg Disease rs72653787 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067873 p.Arg760Trp Disease rs72653788 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067874 p.Ala766Asp Disease rs72653789 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067875 p.Asp777Asn Disease rs72653790 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067876 p.Arg807Gln Disease rs72653794 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067877 p.Arg807Trp Disease rs72653793 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067878 p.Val810Met Disease rs72653795 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067879 p.Thr811Met Disease rs72653796 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067880 p.Ala820Pro Disease rs72653797 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067881 p.Arg881Ser Disease rs72653800 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067882 p.Thr944Ile Disease rs72653801 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067883 p.Leu946Ile Polymorphism rs61340537 -
ABCC6 O95255 VAR_067884 p.Ala950Thr Disease rs72657689 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067885 p.Gly992Arg Disease rs72657692 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067888 p.Asp1056Glu Disease rs72657694 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067889 p.Arg1064Trp Polymorphism rs41278174 -
ABCC6 O95255 VAR_067890 p.Arg1114Cys Disease rs63749794 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6 O95255 VAR_067890 p.Arg1114Cys Disease rs63749794 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067891 p.Ser1121Leu Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067892 p.Thr1130Met Disease rs63750459 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067893 p.Gly1133Ala Disease rs63750473 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067894 p.Ala1139Thr Disease rs63750146 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067895 p.Arg1164Gln Disease rs63750457 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067896 p.Arg1221Cys Disease rs63751215 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067897 p.Arg1221His Disease rs63751001 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6 O95255 VAR_067898 p.Leu1226Ile Disease rs63750125 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067899 p.Arg1235Trp Disease rs63750402 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067900 p.Asp1238His Disease rs63749796 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067901 p.Leu1335Pro Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067902 p.Leu1335Gln Disease rs63750414 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067903 p.Arg1339Leu Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067904 p.Arg1339His Disease rs63750622 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067905 p.Pro1346Ser Disease rs63751112 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067906 p.Arg1357Trp Disease rs63750428 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067907 p.Glu1400Lys Disease rs63751241 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067908 p.Gln1406Lys Disease - Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 O95255 VAR_067909 p.Arg1459Cys Disease rs72547524 Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC8 Q09428 VAR_000100 p.Gly716Val Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008537 p.Arg1352Pro Disease rs28936370 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008539 p.Arg1420Cys Disease rs28938469 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008540 p.Arg1493Trp Disease rs28936371 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008639 p.Arg74Gln Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008640 p.His125Gln Disease rs60637558 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008641 p.Val187Asp Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008642 p.Asn188Ser Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008643 p.Arg275Gln Polymorphism - -
ABCC8 Q09428 VAR_008644 p.Asn406Asp Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008645 p.Val560Met Polymorphism rs4148619 -
ABCC8 Q09428 VAR_008646 p.Phe591Leu Disease - Familial hyperinsulinemic hypoglycemia 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 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008650 p.Arg1214Gln Disease - Familial hyperinsulinemic hypoglycemia 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 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008654 p.Gly1381Ser Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008655 p.Arg1393His Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_008656 p.Gly1478Arg Disease - Familial hyperinsulinemic hypoglycemia 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 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_015008 p.Arg1436Gln Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_015009 p.Glu1506Lys Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_015010 p.Leu1543Pro Disease - Familial hyperinsulinemic hypoglycemia 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 2 (TNDM2) [MIM:610374]
ABCC8 Q09428 VAR_029781 p.Leu582Val Disease - Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8 Q09428 VAR_029782 p.His1023Tyr Disease - Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8 Q09428 VAR_029783 p.Arg1182Gln Disease - Transient neonatal diabetes mellitus 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 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 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031350 p.Val21Asp Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031351 p.Phe27Ser Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031352 p.Gly70Glu Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031353 p.Arg74Trp Disease - Familial hyperinsulinemic hypoglycemia 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 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031356 p.Ala116Pro Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031357 p.Met233Arg Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031358 p.Asp310Asn Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031359 p.Cys418Arg Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031360 p.Arg495Gln Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031361 p.Glu501Lys Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031362 p.Leu503Pro Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031363 p.Leu508Pro Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031364 p.Pro551Arg Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031365 p.Arg620Cys Disease rs58241708 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031366 p.Phe686Ser Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031367 p.Lys719Thr Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031368 p.Arg841Gly Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031369 p.Lys889Thr Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031370 p.Ser956Phe Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031371 p.Thr1130Pro Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031372 p.Leu1147Arg Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031373 p.Arg1214Trp Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031374 p.Asn1295Lys Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031375 p.Lys1336Asn Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031376 p.Gly1342Glu Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031377 p.Leu1349Gln Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031378 p.Lys1384Gln Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031379 p.Ser1386Phe Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031380 p.Gly1400Arg Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031381 p.Arg1418His Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031382 p.Leu1450Pro Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031383 p.Ala1457Thr Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031384 p.Asp1471His Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031385 p.Asp1471Asn Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031386 p.Arg1486Lys Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031387 p.Arg1493Gln Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031388 p.Val1550Asp Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8 Q09428 VAR_031389 p.Leu1551Val Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC9 O60706 VAR_018483 p.Ala1513Thr Disease - Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569]
ABCC9 O60706 VAR_048143 p.Pro1108Ser Polymorphism rs35404804 -
ABCC9 O60706 VAR_066210 p.Thr1547Ile Disease - Familial atrial fibrillation 12 (ATFB12) [MIM:614050]
ABCC9 O60706 VAR_068485 p.His60Tyr Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9 O60706 VAR_068486 p.Asp207Glu Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9 O60706 VAR_068487 p.Gly380Cys Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9 O60706 VAR_068488 p.Pro432Leu Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9 O60706 VAR_068489 p.Ala478Val Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9 O60706 VAR_068490 p.Ser1020Pro Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9 O60706 VAR_068491 p.Phe1039Ser Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9 O60706 VAR_068492 p.Cys1043Tyr Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9 O60706 VAR_068493 p.Ser1054Tyr Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9 O60706 VAR_068494 p.Arg1116Cys Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9 O60706 VAR_068495 p.Arg1116His Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9 O60706 VAR_068496 p.Arg1154Gln Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9 O60706 VAR_068497 p.Arg1154Trp Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
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]
ABCD1 P33897 VAR_067240 p.Thr198Arg Disease - Adrenoleukodystrophy, X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_067241 p.Gly266Glu Disease - Adrenoleukodystrophy, X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_067242 p.Leu523Phe Disease - Adrenoleukodystrophy, X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_067243 p.Phe540Cys Disease - Adrenoleukodystrophy, X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_067244 p.Thr632Pro Disease - Adrenoleukodystrophy, X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_067245 p.Glu640Lys Disease - Adrenoleukodystrophy, X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_067246 p.Gly677Asp Disease - Adrenoleukodystrophy, X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_067328 p.Leu516Pro Disease - Adrenoleukodystrophy, X-linked (X-ALD) [MIM:300100]
ABCD1 P33897 VAR_067329 p.Arg660Gln 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 -
ABCD4 O14678 VAR_069097 p.Tyr319Cys Disease - Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]
ABCE1 P61221 VAR_068914 p.Ser489Cys Polymorphism rs3816497 -
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 - -
ABCG2 Q9UNQ0 VAR_067363 p.Ser13Leu Polymorphism - -
ABCG2 Q9UNQ0 VAR_067364 p.Arg160Gln Polymorphism - -
ABCG2 Q9UNQ0 VAR_067365 p.Gly354Arg Polymorphism rs138606116 -
ABCG2 Q9UNQ0 VAR_067366 p.Ser441Asn 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 -
ABHD10 Q9NUJ1 VAR_031194 p.Ile251Val Polymorphism rs17429033 -
ABHD12B Q7Z5M8 VAR_019100 p.Phe334Leu Polymorphism rs7154732 -
ABHD12B Q7Z5M8 VAR_035676 p.Ile282Val Unclassified - A breast cancer sample
ABHD12 Q8N2K0 VAR_050630 p.Ala349Thr Polymorphism rs746748 -
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 -
ABHD1 Q96SE0 VAR_031087 p.Asp137Glu Polymorphism rs6715286 -
ABHD1 Q96SE0 VAR_031088 p.Trp371Cys Polymorphism rs2304678 -
ABHD1 Q96SE0 VAR_052484 p.Pro54Gln Polymorphism rs34127901 -
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.His250Gln Polymorphism rs1925368 -
ABTB2 Q8N961 VAR_024171 p.Thr918Ala Polymorphism rs2473928 -
ACAA1 P09110 VAR_011904 p.Glu172Asp Polymorphism rs156265 -
ACAA1 P09110 VAR_069148 p.Val387Ala Polymorphism rs2229528 -
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
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 -
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 -
ACADVL P49748 VAR_000330 p.Gly43Asp Polymorphism rs2230178 -
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 rs113994168 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 rs113994167 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 rs118204015 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 rs118204016 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_000356 p.Arg453Gln Disease rs138058572 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 rs113994170 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 rs118204014 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL P49748 VAR_010101 p.Ala213Pro Disease rs140629318 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 rs118204017 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 rs148584617 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 -
ACCSL Q4AC99 VAR_060626 p.Cys529Arg Polymorphism rs2074051 -
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 -
ACD Q96AP0 VAR_060224 p.Thr301Met Polymorphism rs72547495 -
ACD Q96AP0 VAR_060225 p.Val518Ala Polymorphism rs6979 -
ACE2 Q9BYF1 VAR_023082 p.Lys26Arg Polymorphism rs4646116 -
ACE2 Q9BYF1 VAR_023083 p.Asn638Ser Polymorphism - -
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 -
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
ACO2 Q99798 VAR_067543 p.Ser112Arg Disease - Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]
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 - -
ACOT1 Q86TX2 VAR_059830 p.Arg266His Polymorphism rs1049568 -
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 -
ACOX1 Q15067 VAR_067041 p.Ser184Leu Disease - Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1 Q15067 VAR_067042 p.Gly231Val Disease - Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1 Q15067 VAR_067043 p.Gln309Arg Disease - Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1 Q15067 VAR_067044 p.Ser310Pro Disease - Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
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 -
ACRBP Q8NEB7 VAR_050633 p.Thr336Ala Polymorphism rs3741923 -
ACRC Q96QF7 VAR_038520 p.Thr662Ile Polymorphism rs2280962 -
ACRC Q96QF7 VAR_050634 p.Arg471His Polymorphism rs10217999 -
ACR P10323 VAR_011650 p.Leu120Val Polymorphism rs1064734 -
ACR P10323 VAR_011651 p.Phe166Leu Polymorphism rs1064735 -
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 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, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
ACTA1 P68133 VAR_011681 p.Leu96Pro Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_011682 p.Asn117Ser Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_011683 p.Ile138Met Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_011684 p.Val165Leu Disease - Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
ACTA1 P68133 VAR_011685 p.Glu261Val Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_011686 p.Gly270Cys Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_011687 p.Val372Phe Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_013470 p.Met134Val Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_013471 p.Met271Arg Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015579 p.His42Tyr Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015580 p.Gly184Asp Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015581 p.Arg185Gly Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015582 p.Arg185Cys Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015583 p.Arg258His Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015584 p.Gln265Leu Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015585 p.Asn282Lys Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015586 p.Asp288Gly Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_015587 p.Ile359Leu Disease - Nemaline myopathy 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 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062425 p.Asp27Asn Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062426 p.Val37Leu Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062427 p.Pro40Leu Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062428 p.Gln43Arg Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062429 p.Gly44Val Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062430 p.Val45Phe Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062431 p.Ile66Asn Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062432 p.Thr68Ile Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062433 p.Glu74Lys Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062434 p.His75Leu Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062435 p.His75Arg Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062436 p.Ile77Leu Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062437 p.Thr79Ala Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062438 p.Glu85Lys Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062439 p.Ala116Thr Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062440 p.Asn117Thr Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062441 p.Arg118His Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062442 p.Val136Ala Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062443 p.Ala140Pro Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062444 p.Leu142Pro Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062445 p.Gly148Asp Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062446 p.Thr150Asn Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062447 p.Asp156Asn Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062448 p.Val165Met Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062449 p.Ala172Gly Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062450 p.Asp181Gly Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062451 p.Asp181His Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062452 p.Asp181Asn Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062453 p.Arg185Asp Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062454 p.Arg185Ser Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062455 p.Arg198Leu Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062456 p.Gly199Ser Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062457 p.Glu226Gly Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062458 p.Glu226Gln Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062459 p.Asn227Val Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062460 p.Met229Ile Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062461 p.Met229Thr Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062462 p.Met229Val Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062463 p.Glu243Lys Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062464 p.Gln248Lys Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062465 p.Gln248Arg Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062466 p.Gly253Asp Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062467 p.Arg258Leu Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062468 p.Gly270Asp Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062469 p.Gly270Arg Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062470 p.Ala274Glu Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062471 p.Tyr281His Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062472 p.Met285Lys Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062473 p.Glu336Ala Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062474 p.Lys338Glu Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062475 p.Lys338Ile Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062476 p.Ser350Leu Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062477 p.Arg374Ser Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062478 p.Lys375Glu Disease - Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1 P68133 VAR_062479 p.Lys375Gln Disease - Nemaline myopathy 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 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045916 p.Arg118Gln Disease - Familial aortic aneurysm thoracic 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045917 p.Tyr135His Disease - Familial aortic aneurysm thoracic 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045918 p.Arg149Cys Disease - Familial aortic aneurysm thoracic 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045919 p.Val154Ala Disease - Familial aortic aneurysm thoracic 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045920 p.Arg258Cys Disease - Familial aortic aneurysm thoracic 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045921 p.Arg258His Disease - Familial aortic aneurysm thoracic 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045922 p.Arg292Gly Disease - Familial aortic aneurysm thoracic 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_045923 p.Thr353Asn Disease - Familial aortic aneurysm thoracic 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_062577 p.Arg39His Disease - Familial aortic aneurysm thoracic 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_062578 p.Tyr145Cys Disease - Familial aortic aneurysm thoracic 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_062579 p.Arg185Gln Disease - Familial aortic aneurysm thoracic 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_062580 p.Arg212Gln Disease - Familial aortic aneurysm thoracic 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_062581 p.Thr326Asn Disease - Familial aortic aneurysm thoracic 6 (AAT6) [MIM:611788]
ACTA2 P62736 VAR_064516 p.Arg179His Disease - Moyamoya disease 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 -
ACTB P60709 VAR_067810 p.Asn12Asp Disease - Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
ACTB P60709 VAR_067811 p.Leu65Val Disease - Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
ACTB P60709 VAR_067812 p.Arg196Cys Disease - Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
ACTB P60709 VAR_067813 p.Arg196His Disease - Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
ACTC1 P68032 VAR_012857 p.Glu101Lys Disease - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_012858 p.Pro166Ala Disease - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_012859 p.Ala297Ser Disease - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_012860 p.Arg314His Disease - Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]
ACTC1 P68032 VAR_012861 p.Ala333Pro Disease - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_012862 p.Glu363Gly Disease - Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]
ACTC1 P68032 VAR_045924 p.His90Tyr Disease - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_045925 p.Arg97Cys Disease - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_046502 p.Met125Val Disease - Atrial septal defect 5 (ASD5) [MIM:612794]
ACTC1 P68032 VAR_046503 p.Tyr168Cys Disease - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1 P68032 VAR_046504 p.Met307Leu Disease - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTG1 P63261 VAR_032434 p.Thr89Ile Disease rs28999111 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_032435 p.Lys118Met Disease - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_032436 p.Pro264Leu Disease - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_032437 p.Thr278Ile Disease rs28999112 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_032438 p.Pro332Ala Disease - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_032439 p.Val370Ala Disease - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_048186 p.Thr160Ile Polymorphism rs11549206 -
ACTG1 P63261 VAR_055482 p.Pro243Leu Polymorphism rs11546899 -
ACTG1 P63261 VAR_067814 p.Thr120Ile Disease - Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1 P63261 VAR_067815 p.Ala135Val Disease - Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1 P63261 VAR_067816 p.Ser155Phe Disease - Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1 P63261 VAR_067817 p.Thr203Lys Disease - Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1 P63261 VAR_067818 p.Arg254Trp Disease - Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1 P63261 VAR_067819 p.Arg256Trp Disease - Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1 P63261 VAR_067824 p.Lys118Asn Disease - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_067825 p.Ile122Val Disease - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1 P63261 VAR_067826 p.Glu241Lys Disease - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
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 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 1 (FSGS1) [MIM:603278]
ACTN4 O43707 VAR_010379 p.Thr259Ile Disease rs28939375 Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4 O43707 VAR_010380 p.Ser262Pro Disease rs28939376 Focal segmental glomerulosclerosis 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 -
ACTRT3 Q9BYD9 VAR_055483 p.Glu234Lys Polymorphism rs2068178 -
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 -
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]
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 - Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]
ACVR2B Q13705 VAR_013282 p.Val494Ile Disease - Heterotaxy, visceral, 4, autosomal (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 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006205 p.Cys51Tyr Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006206 p.Arg67Gln Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006207 p.Cys77Trp Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006208 p.Asn96Asp Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006210 p.Ser333Ile Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006211 p.Arg374Trp Disease rs28936401 Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006212 p.Met376Arg Disease rs28936399 Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006213 p.Arg411Gln Disease rs28936398 Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_006214 p.Pro424Thr Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_011717 p.Ile245Asn Polymorphism rs1804508 -
ACVRL1 P37023 VAR_026785 p.Gly48Arg Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026786 p.Arg67Trp Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026787 p.Asp179Ala Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026788 p.Gly211Asp Disease rs28936687 Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026789 p.Glu215Lys Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026790 p.Gly223Arg Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026791 p.Lys229Arg Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026794 p.Leu285Phe Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026795 p.Ala306Pro Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026796 p.His314Tyr Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026797 p.Leu337Pro Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026798 p.Cys344Tyr Disease rs28936688 Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026799 p.Ala347Pro Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026800 p.Arg374Gln Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026801 p.Met376Val Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026802 p.Pro378Leu Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026803 p.Glu379Lys Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026804 p.Asp397Gly Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026805 p.Ile398Asn Disease rs28936400 Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026806 p.Trp399Ser Disease rs28936402 Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026807 p.Glu407Asp Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026808 p.Arg411Pro Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026809 p.Arg411Trp Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026810 p.Phe425Leu Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026811 p.Phe425Val Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026813 p.Arg479Leu Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026814 p.Ala482Val Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026815 p.Arg484Trp Disease - Hereditary hemorrhagic telangiectasia 2 (HHT2) [MIM:600376]
ACVRL1 P37023 VAR_026816 p.Lys487Thr Disease - Hereditary hemorrhagic telangiectasia 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 -
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 -
ADAM15 Q13444 VAR_068970 p.Glu216Lys Polymorphism rs115753757 -
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
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
ADAM2 Q99965 VAR_035217 p.Gly10Trp Polymorphism rs34800519 -
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 -
ADAM8 P78325 VAR_069144 p.Trp35Arg Polymorphism rs2275725 -
ADAM8 P78325 VAR_069145 p.Phe657Leu Polymorphism rs2275720 -
ADAMDEC1 O15204 VAR_021848 p.Asn444Ser Polymorphism rs3765124 -
ADAMDEC1 O15204 VAR_024598 p.Met121Thr Polymorphism rs7007084 -
ADAMTS10 Q9H324 VAR_054439 p.Ala25Thr Disease - Weill-Marchesani syndrome 1 (WMS1) [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 rs121908467 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027112 p.Arg102Cys Disease rs121908469 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 rs121908470 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 rs121908478 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027117 p.Arg268Pro Disease rs121908477 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 rs121908471 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 rs121908473 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 rs121908475 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 rs78977446 -
ADAMTS13 Q76LX8 VAR_027131 p.Cys908Tyr Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027132 p.Cys951Gly Disease rs121908468 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_027133 p.Cys1024Gly Disease rs121908472 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 rs121908474 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 -
ADAMTS13 Q76LX8 VAR_067770 p.Ile79Met Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067771 p.Ser119Phe Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067772 p.Ile178Thr Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067773 p.Ser203Pro Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067774 p.Leu232Gln Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067775 p.Asp235His Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067776 p.Ser263Cys Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067777 p.Tyr304Cys Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067778 p.Cys311Tyr Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067779 p.Thr339Arg Polymorphism rs149517360 -
ADAMTS13 Q76LX8 VAR_067780 p.Cys347Ser Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067781 p.Arg349Cys Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067782 p.Pro353Leu Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067783 p.Arg507Gln Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067784 p.Gly525Asp Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067785 p.Ala596Val Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067786 p.Ala606Pro Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067787 p.Tyr658Cys Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067788 p.Pro671Leu Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067789 p.Cys758Arg Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067790 p.Cys908Ser Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067792 p.Arg1060Trp Disease rs142572218 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067793 p.Arg1219Trp Disease - Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13 Q76LX8 VAR_067794 p.Ser1314Leu Unclassified - -
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 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 -
ADAMTS1 Q9UHI8 VAR_030001 p.Ala227Pro Polymorphism rs428785 -
ADAMTS20 P59510 VAR_057088 p.Lys876Met Polymorphism rs7302446 -
ADAMTS20 P59510 VAR_057089 p.Arg1000His Polymorphism rs7297737 -
ADAMTS20 P59510 VAR_057090 p.Ser1273Phe Polymorphism rs7310011 -
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 -
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 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_054875 p.Glu114Lys Disease - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_054876 p.Pro147Leu Disease - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_054877 p.Gly811Arg Disease - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066543 p.Trp50Cys Disease - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066544 p.Arg72Gln Disease - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066545 p.Arg159Trp Disease - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066546 p.Ala165Thr Disease - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066547 p.Cys171Arg Disease - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066548 p.Arg221Cys Disease - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066549 p.Ala239Thr Disease - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066551 p.Arg593Cys Disease - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066552 p.Ser635Leu Disease - Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2 Q86TH1 VAR_066553 p.Pro906Leu Disease - Geleophysic dysplasia 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 -
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 rs121908728 -
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]
ADAP1 O75689 VAR_047470 p.Gly241Ser Polymorphism rs10256887 -
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 -
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 -
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
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, primary, 4 (COQ10D4) [MIM:612016]
ADCK3 Q8NI60 VAR_044403 p.Gly272Asp Disease - Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
ADCK3 Q8NI60 VAR_044404 p.Gly272Val Disease - Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
ADCK3 Q8NI60 VAR_044405 p.Tyr514Cys Disease - Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
ADCK3 Q8NI60 VAR_044406 p.Gly549Ser Disease - Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
ADCK3 Q8NI60 VAR_044407 p.Glu551Lys Disease - Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
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 -
ADC Q96A70 VAR_050611 p.Ala288Ser Polymorphism rs16835244 -
ADCY10 Q96PN6 VAR_038476 p.Thr234Met Polymorphism rs16859886 -
ADCY10 Q96PN6 VAR_038477 p.Ile697Val Polymorphism rs2071921 -
ADCY1 Q08828 VAR_029186 p.Pro456Leu Polymorphism rs12721473 -
ADCY1 Q08828 VAR_029187 p.Ala940Thr Polymorphism rs45444695 -
ADCY1 Q08828 VAR_048246 p.Val984Met Polymorphism rs2293106 -
ADCY2 Q08462 VAR_029012 p.Val147Leu Polymorphism rs13166360 -
ADCY2 Q08462 VAR_048247 p.Val163Ile Polymorphism rs34043481 -
ADCY3 O60266 VAR_048248 p.Ser107Pro Polymorphism rs11676272 -
ADCY5 O95622 VAR_068821 p.Ala726Thr Disease - Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]
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 -
ADGB Q8N7X0 VAR_025948 p.Ile310Thr Polymorphism rs9497606 -
ADGB Q8N7X0 VAR_063158 p.Thr1637Ala Polymorphism rs1052445 -
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 -
ADPRM Q3LIE5 VAR_032125 p.Leu92Arg Polymorphism rs34940296 -
ADPRM Q3LIE5 VAR_032126 p.Glu337Gly Polymorphism rs406446 -
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 -
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 -
AFAP1 Q8N556 VAR_038578 p.Ser403Cys Polymorphism rs28406288 -
AFAP1 Q8N556 VAR_038579 p.Val518Met Polymorphism rs41264705 -
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 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_063545 p.Glu691Lys Disease - Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_063546 p.Ala694Glu Disease - Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_063547 p.Arg702Gln Disease - Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064402 p.Thr654Ile Disease - Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064403 p.Met666Arg Disease - Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064404 p.Met666Thr Disease - Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064405 p.Met666Val Disease - Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064406 p.Gly671Glu Disease - Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064407 p.Gly671Arg Disease - Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_064408 p.Glu700Lys Disease - Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2 Q9Y4W6 VAR_067330 p.Tyr616Cys Disease - Spastic ataxia autosomal recessive 5 (SPAX5) [MIM:614487]
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 -
AGAP11 Q8TF27 VAR_042518 p.Ile82Val Polymorphism rs2641563 -
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 -
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 Unclassified - -
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 -
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 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 1 (CGL1) [MIM:608594]
AGPAT2 O15120 VAR_017327 p.Leu228Pro Disease - Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
AGPAT2 O15120 VAR_017328 p.Gly136Arg Disease - Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
AGPAT5 Q9NUQ2 VAR_022696 p.Tyr77Cys Polymorphism rs17077958 -
AGPS O00116 VAR_005002 p.Arg419His Disease - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS O00116 VAR_025895 p.Thr309Ile Disease - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS O00116 VAR_025896 p.Leu469Pro Disease - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS O00116 VAR_066929 p.Arg182Gln Disease - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS O00116 VAR_066930 p.Glu471Lys Disease - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS O00116 VAR_066931 p.Thr568Met Disease - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGRN O00468 VAR_048966 p.Val1666Ile Polymorphism rs17160775 -
AGRN O00468 VAR_068724 p.Val23Leu Polymorphism - -
AGRN O00468 VAR_068725 p.Asp58Asn Polymorphism - -
AGRN O00468 VAR_068726 p.Asn105Ile Polymorphism - -
AGRN O00468 VAR_068727 p.Thr267Met Polymorphism - -
AGRN O00468 VAR_068728 p.Ala375Ser Polymorphism - -
AGRN O00468 VAR_068729 p.Glu728Val Polymorphism - -
AGRN O00468 VAR_068730 p.Gln852Arg Polymorphism - -
AGRN O00468 VAR_068731 p.Val984Met Polymorphism - -
AGRN O00468 VAR_068732 p.Leu1088Phe Polymorphism - -
AGRN O00468 VAR_068733 p.Thr1118Lys Polymorphism - -
AGRN O00468 VAR_068734 p.Gln1135Arg Polymorphism - -
AGRN O00468 VAR_068735 p.Pro1240Leu Polymorphism - -
AGRN O00468 VAR_068736 p.Gly1341Arg Polymorphism - -
AGRN O00468 VAR_068737 p.Pro1451Leu Polymorphism - -
AGRN O00468 VAR_068738 p.Ala1514Thr Polymorphism - -
AGRN O00468 VAR_068739 p.Gln1565His Polymorphism - -
AGRN O00468 VAR_068740 p.Arg1671Gln Polymorphism - -
AGRN O00468 VAR_068741 p.Arg1698Pro Polymorphism - -
AGRN O00468 VAR_068742 p.Gly1709Arg Disease - Myasthenia, limb-girdle, familial (LGM) [MIM:254300]
AGRN O00468 VAR_068743 p.Arg1734His Polymorphism - -
AGRN O00468 VAR_068744 p.Asp1789Asn Polymorphism - -
AGRN O00468 VAR_068745 p.Gly2045Val Polymorphism - -
AGRN O00468 VAR_069066 p.Val1727Phe Disease - Myasthenia, limb-girdle, familial (LGM) [MIM:254300]
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 88 (MRX88) [MIM:300852]
AGTR2 P50052 VAR_065947 p.Arg324Gln Disease - Mental retardation, X-linked 88 (MRX88) [MIM:300852]
AGTR2 P50052 VAR_065948 p.Ile337Val Disease - Mental retardation, X-linked 88 (MRX88) [MIM:300852]
AGTRAP Q6RW13 VAR_023075 p.Ala143Val Polymorphism rs17875960 -
AGXT2L1 Q8TBG4 VAR_032342 p.Ser185Pro Polymorphism rs1377210 -
AGXT2L2 Q8IUZ5 VAR_048233 p.His126Arg Polymorphism rs7707147 -
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 -
AGXT P21549 VAR_000587 p.Pro11Leu Polymorphism rs34116584 -
AGXT P21549 VAR_000588 p.Gly41Arg Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_000589 p.Phe152Ile Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_000590 p.Gly170Arg Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_000591 p.Ser187Phe Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_000592 p.Ser205Pro Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_000593 p.Ile340Met Polymorphism rs4426527 -
AGXT P21549 VAR_008878 p.Gly82Glu Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_008879 p.Arg233Cys Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_008880 p.Arg233His Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_008881 p.Ile244Thr Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_010969 p.Gly41Val Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_010971 p.Gly116Arg Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_010972 p.Gly156Arg Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_010973 p.Asp183Asn Disease - Hyperoxaluria primary 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 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060548 p.Gly82Arg Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060549 p.Trp108Arg Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060550 p.Ala112Asp Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060552 p.Leu153Val Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060553 p.Ser158Leu Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060554 p.Gly161Arg Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060555 p.Cys173Tyr Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060556 p.Gly190Arg Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060557 p.Met195Arg Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060558 p.Asp201Glu Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060559 p.Ser218Leu Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060560 p.Arg233Leu Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060561 p.Asp243His Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060562 p.Cys253Arg Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060563 p.Ile279Met Disease - Hyperoxaluria primary 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 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060567 p.Arg289Cys Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060569 p.Leu298Pro Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060570 p.Val326Ile Polymorphism - -
AGXT P21549 VAR_060571 p.Val336Asp Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT P21549 VAR_060572 p.Gly350Asp Disease - Hyperoxaluria primary 1 (HP1) [MIM:259900]
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 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 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 - -
AHI1 Q8N157 VAR_068171 p.Glu1086Gly Disease - Joubert syndrome 3 (JBTS3) [MIM:608629]
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 -
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 -
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 2 (HIGM2) [MIM:605258]
AICDA Q9GZX7 VAR_013775 p.Trp80Arg Disease - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA Q9GZX7 VAR_013776 p.Leu106Pro Disease - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA Q9GZX7 VAR_013777 p.Met139Val Disease - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA Q9GZX7 VAR_013778 p.Phe151Ser Disease - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA Q9GZX7 VAR_014091 p.Arg25Cys Polymorphism - -
AIF1 P55008 VAR_048665 p.Gly14Arg Polymorphism rs2736182 -
AIFM1 O95831 VAR_067334 p.Gly308Glu Disease - Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816]
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 -
AIM1L Q8N1P7 VAR_048835 p.Ser249Asn Polymorphism rs10751735 -
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 -
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
AIPL1 Q9NZN9 VAR_010139 p.Cys239Arg Disease - Leber congenital amaurosis 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 -
AIPL1 Q9NZN9 VAR_067165 p.Arg270His Disease - Leber congenital amaurosis 4 (LCA4) [MIM:604393]
AIPL1 Q9NZN9 VAR_067166 p.Arg302Leu Unclassified - -
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 -
AIRE O43918 VAR_005004 p.Leu28Pro Disease rs179363878 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_005005 p.Lys83Glu Disease - Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_005006 p.Ser278Arg Polymorphism rs1800520 -
AIRE O43918 VAR_013713 p.Arg15Leu Disease rs179363876 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_013714 p.Thr16Met Disease rs179363877 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_013715 p.Leu29Pro Disease rs179363879 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_013716 p.Trp78Arg Disease rs179363880 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_013717 p.Val80Leu Disease rs179363881 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_013718 p.Tyr85Cys Disease rs179363882 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_013719 p.Tyr90Cys Disease rs179363883 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_013720 p.Leu93Arg Disease rs179363884 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_013721 p.Val301Met Disease - Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_013722 p.Gly305Ser Polymorphism - -
AIRE O43918 VAR_013723 p.Cys311Tyr Disease - Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_013724 p.Pro326Gln Disease rs179363885 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_014422 p.Gly228Trp Disease - Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_026480 p.Arg15Cys Disease rs179363875 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_026481 p.Ala21Val Disease rs179363886 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_026483 p.Phe77Ser Disease rs179363887 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_026484 p.Pro252Leu Disease rs34397615 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_026485 p.Pro326Leu Disease rs179363888 Autoimmune polyendocrine syndrome 1 (APS1) [MIM:240300]
AIRE O43918 VAR_026486 p.Pro539Leu Disease rs179363889 Autoimmune polyendocrine syndrome 1 (APS1) [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 -
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 -
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 -
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 -
AKAP8L Q9ULX6 VAR_068822 p.His458Gln Polymorphism rs2058322 -
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 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 -
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 -
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 -
AKR1A1 P14550 VAR_048212 p.Asn52Ser Polymorphism rs2229540 -
AKR1A1 P14550 VAR_058909 p.Glu55Asp Polymorphism rs6690497 -
AKR1B10 O60218 VAR_013287 p.Asn313Asp Polymorphism rs4728329 -
AKR1B10 O60218 VAR_020077 p.Pro87Ser Polymorphism rs2303312 -
AKR1B10 O60218 VAR_020078 p.Met286Thr Polymorphism rs3735042 -
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 -
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 8 (SRXY8) [MIM:614279]
AKR1C2 P52895 VAR_066633 p.His90Gln Disease - 46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C2 P52895 VAR_066634 p.His222Gln Disease - 46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C2 P52895 VAR_066635 p.Asn300Thr Disease - 46,XY sex reversal 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 2 (CBAS2) [MIM:235555]
AKR1D1 P51857 VAR_033008 p.Pro198Leu Disease - Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1D1 P51857 VAR_044430 p.Pro133Arg Disease - Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1D1 P51857 VAR_044431 p.Arg261Cys Disease - Congenital bile acid synthesis defect 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 -
AKT2 P31751 VAR_067309 p.Glu17Lys Disease - Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) [MIM:240900]
AKT2 P31751 VAR_067310 p.Arg274His Disease - Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
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 - Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
ALDH18A1 P54886 VAR_051792 p.Thr299Ile Polymorphism rs2275272 -
ALDH18A1 P54886 VAR_051793 p.Ser372Tyr Polymorphism rs3765571 -
ALDH18A1 P54886 VAR_058006 p.His784Tyr Disease - Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
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 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 - -
ALDH5A1 P51649 VAR_069047 p.Asn372Ser 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]
ALDH7A1 P49419 VAR_069184 p.Gly202Val Disease - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1 P49419 VAR_069185 p.Gly291Glu Disease - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1 P49419 VAR_069186 p.Asn301Ile Disease - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1 P49419 VAR_069187 p.Arg335Gln Disease - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1 P49419 VAR_069188 p.Val395Gly Disease - Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1 P49419 VAR_069189 p.Ser458Asn 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 12 (GSD12) [MIM:611881]
ALDOA P04075 VAR_044142 p.Glu207Lys Disease - Glycogen storage disease 12 (GSD12) [MIM:611881]
ALDOA P04075 VAR_044143 p.Cys339Tyr Disease - Glycogen storage disease 12 (GSD12) [MIM:611881]
ALDOA P04075 VAR_044144 p.Gly347Ser Disease - Glycogen storage disease 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]
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 1P (CDG1P) [MIM:613661]
ALG11 Q2TAA5 VAR_068070 p.Tyr279Ser Disease - Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
ALG11 Q2TAA5 VAR_068071 p.Gln318Pro Disease - Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
ALG11 Q2TAA5 VAR_068072 p.Leu381Ser Disease - Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
ALG11 Q2TAA5 VAR_068073 p.Glu398Lys Disease - Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
ALG12 Q9BV10 VAR_017904 p.Thr67Met Disease - Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
ALG12 Q9BV10 VAR_017905 p.Phe142Val Disease rs28942090 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
ALG12 Q9BV10 VAR_017906 p.Arg146Gln Disease - Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
ALG12 Q9BV10 VAR_017907 p.Leu158Pro Disease - Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
ALG12 Q9BV10 VAR_024466 p.Ile393Val Polymorphism rs3922872 -
ALG12 Q9BV10 VAR_038428 p.Gly101Arg Disease - Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
ALG13 Q9NP73 VAR_069218 p.Lys94Glu Disease - Congenital disorder of glycosylation 1S (CDG1S) [MIM:300884]
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 -
ALG1 Q9BT22 VAR_023364 p.Ser150Arg Disease - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
ALG1 Q9BT22 VAR_023365 p.Ser258Leu Disease rs28939378 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
ALG1 Q9BT22 VAR_023366 p.Gln342Pro Disease - Congenital disorder of glycosylation 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 -
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 1D (CDG1D) [MIM:601110]
ALG3 Q92685 VAR_037805 p.Ile107Val Polymorphism rs2233463 -
ALG3 Q92685 VAR_037806 p.Arg171Gln Disease - Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110]
ALG6 Q9Y672 VAR_013442 p.Phe304Ser Polymorphism rs4630153 -
ALG6 Q9Y672 VAR_013443 p.Ala333Val Disease - Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
ALG6 Q9Y672 VAR_013444 p.Ser478Pro Disease - Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
ALG6 Q9Y672 VAR_022511 p.Tyr131His Disease rs35383149 Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
ALG6 Q9Y672 VAR_022512 p.Ser170Ile Disease - Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
ALG6 Q9Y672 VAR_022513 p.Gly227Glu Disease - Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
ALG6 Q9Y672 VAR_022514 p.Ser308Arg Disease - Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
ALG6 Q9Y672 VAR_055493 p.Lys226Asn Polymorphism rs35604168 -
ALG8 Q9BVK2 VAR_023480 p.Thr47Pro Disease - Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]
ALG8 Q9BVK2 VAR_023481 p.Asn222Ser Polymorphism rs665278 -
ALG8 Q9BVK2 VAR_023482 p.Gly275Asp Disease - Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]
ALG8 Q9BVK2 VAR_031596 p.Ile439Thr Polymorphism rs17825668 -
ALG9 Q9H6U8 VAR_023410 p.Tyr287Cys Disease - Congenital disorder of glycosylation 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 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 -
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 -
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 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063851 p.Gly1128Ala Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063852 p.Thr1151Met Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063853 p.Met1166Arg Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063854 p.Ile1171Asn Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063855 p.Phe1174Cys Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063856 p.Phe1174Ile Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063857 p.Phe1174Leu Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063858 p.Phe1174Val Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063859 p.Arg1192Pro Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063860 p.Ala1234Thr Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063861 p.Phe1245Cys Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063862 p.Phe1245Val Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063863 p.Ile1250Thr Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063864 p.Arg1275Leu Unclassified - -
ALK Q9UM73 VAR_063865 p.Arg1275Gln Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK Q9UM73 VAR_063866 p.Tyr1278Ser Disease - Neuroblastoma 3 (NBLST3) [MIM:613014]
ALMS1P Q96L16 VAR_039260 p.Asn52Ser Polymorphism rs11885953 -
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 -
ALOX12B O75342 VAR_015173 p.Leu426Pro Disease - Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
ALOX12B O75342 VAR_015174 p.His578Gln Disease - Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
ALOX12B O75342 VAR_050000 p.Gly94Ser Polymorphism rs8077661 -
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 -
ALOX15B O15296 VAR_024524 p.Gln656Arg Polymorphism rs4792147 -
ALOX15B O15296 VAR_024525 p.Ile676Val Polymorphism rs7225107 -
ALOX15B O15296 VAR_061334 p.Arg486His Polymorphism rs9895916 -
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 -
ALOX5 P09917 VAR_028018 p.Glu254Lys Polymorphism rs2228065 -
ALOXE3 Q9BYJ1 VAR_015175 p.Arg396Ser Disease - Erythroderma, ichthyosiform, congenital non-bullous (NCIE) [MIM:242100]
ALOXE3 Q9BYJ1 VAR_015176 p.Val500Phe Disease - Erythroderma, ichthyosiform, congenital non-bullous (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]
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 -
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 -
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 -
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 -
ALX3 O95076 VAR_047475 p.Pro234Ala Polymorphism rs12749726 -
ALX3 O95076 VAR_063226 p.Leu168Val Disease - Frontonasal dysplasia 1 (FND1) [MIM:136760]
ALX3 O95076 VAR_063227 p.Arg183Trp Disease - Frontonasal dysplasia 1 (FND1) [MIM:136760]
ALX3 O95076 VAR_063228 p.Arg196Trp Disease - Frontonasal dysplasia 1 (FND1) [MIM:136760]
ALX3 O95076 VAR_063229 p.Asn203Ser Disease - Frontonasal dysplasia 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 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 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 1E (AI1E) [MIM:301200]
AMELX Q99217 VAR_037582 p.Thr37Ile Disease - Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
AMELX Q99217 VAR_037583 p.Pro56Thr Disease - Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
AMER1 Q5JTC6 VAR_031304 p.Lys292Asn Polymorphism - -
AMER1 Q5JTC6 VAR_053870 p.Phe159Leu Polymorphism rs34677493 -
AMER1 Q5JTC6 VAR_053871 p.Ala278Ser Polymorphism rs35718712 -
AMER2 Q8N7J2 VAR_031303 p.Ile659Met Polymorphism rs2282406 -
AMER2 Q8N7J2 VAR_036448 p.Ala457Thr Unclassified - A colorectal cancer sample
AMER3 Q8N944 VAR_039218 p.Ser340Pro Polymorphism rs1905235 -
AMFR Q9UKV5 VAR_035790 p.Asp605Val Unclassified - A breast cancer sample
AMH P03971 VAR_007483 p.Val12Gly Disease - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_007484 p.Ser49Ile Polymorphism rs10407022 -
AMH P03971 VAR_007485 p.Leu70Pro Disease - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_007486 p.Gly101Val Disease - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_007487 p.Arg123Trp Disease - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_007488 p.Tyr167Cys Disease - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_007489 p.Gln185Glu Polymorphism - -
AMH P03971 VAR_007490 p.Arg194Cys Disease - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_007491 p.Gln325Arg Polymorphism - -
AMH P03971 VAR_007492 p.Val477Ala Disease - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_031027 p.His506Gln Disease - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_031028 p.Cys525Tyr Disease - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH P03971 VAR_065100 p.Val515Ala Polymorphism rs10417628 -
AMHR2 Q16671 VAR_015525 p.Arg54Cys Disease - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015526 p.Gly142Val Disease - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015527 p.His282Gln Disease - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015528 p.Arg406Gln Disease - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015529 p.Asp426Gly Disease - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015530 p.Val458Ala Disease - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015531 p.Asp491His Disease - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_015532 p.Arg504Cys Disease - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2 Q16671 VAR_069048 p.Arg319His Polymorphism rs144236183 -
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.Pro81Leu Polymorphism - -
AMPD1 P23109 VAR_013271 p.Arg421Trp Disease rs35859650 Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]
AMPD1 P23109 VAR_013272 p.Arg458His Disease - Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]
AMPD1 P23109 VAR_035801 p.Pro666His Unclassified - A colorectal cancer sample
AMPD1 P23109 VAR_048860 p.Glu55Lys Polymorphism rs2273268 -
AMPD2 Q01433 VAR_069105 p.Ile522Val Polymorphism rs201254826 -
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 -
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 -
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]
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
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 -
ANG P03950 VAR_013148 p.Lys84Glu Polymorphism rs17560 -
ANG P03950 VAR_044145 p.Phe12Ser Disease - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044146 p.Pro20Ser Disease - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044147 p.Gln36Leu Disease - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044148 p.Lys41Glu Disease - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044149 p.Lys41Ile Disease - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044150 p.Ser52Asn Disease - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044151 p.Arg55Lys Disease - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044152 p.Cys63Trp Disease - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044153 p.Lys64Ile Disease - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044154 p.Ile70Val Unclassified - -
ANG P03950 VAR_044155 p.Pro136Leu Disease - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044156 p.Val137Ile Disease - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG P03950 VAR_044157 p.His138Arg Disease - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANGPT1 Q15389 VAR_069165 p.Leu247Pro Polymorphism rs73701083 -
ANGPT2 O15123 VAR_049069 p.Val333Ile Polymorphism rs7813215 -
ANGPT4 Q9Y264 VAR_049070 p.Glu395Lys Polymorphism rs869171 -
ANGPTL3 Q9Y5C1 VAR_049071 p.Asn418Tyr Polymorphism rs4145257 -
ANGPTL3 Q9Y5C1 VAR_067283 p.Leu127Phe Polymorphism - -
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 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 1 (SPH1) [MIM:182900]
ANK1 P16157 VAR_054992 p.Ile1054Thr Disease - Spherocytosis 1 (SPH1) [MIM:182900]
ANK1 P16157 VAR_061012 p.Arg832Gln Polymorphism rs34523608 -
ANK2 Q01484 VAR_022934 p.Glu1458Gly Disease - Long QT syndrome 4 (LQT4) [MIM:600919]
ANK2 Q01484 VAR_022935 p.Leu3740Ile Disease - Long QT syndrome 4 (LQT4) [MIM:600919]
ANK2 Q01484 VAR_022936 p.Thr3744Asn Disease - Long QT syndrome 4 (LQT4) [MIM:600919]
ANK2 Q01484 VAR_022937 p.Arg3906Trp Disease - Long QT syndrome 4 (LQT4) [MIM:600919]
ANK2 Q01484 VAR_022938 p.Glu3931Lys Disease - Long QT syndrome 4 (LQT4) [MIM:600919]
ANK2 Q01484 VAR_035606 p.Gly685Glu Unclassified - A breast cancer sample
ANK2 Q01484 VAR_035607 p.Gly1267Arg Unclassified - A colorectal cancer sample
ANK2 Q01484 VAR_035608 p.Thr3653Lys Unclassified - A colorectal cancer sample
ANK2 Q01484 VAR_055504 p.Asn687Ser Polymorphism rs29372 -
ANK2 Q01484 VAR_055505 p.Val2369Ala 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 -
ANK3 Q12955 VAR_068702 p.Ser1569Ala Unclassified - -
ANK3 Q12955 VAR_068703 p.Thr3720Met Unclassified - -
ANK3 Q12955 VAR_068704 p.Thr4255Pro Unclassified - -
ANKAR Q7Z5J8 VAR_032164 p.Ile675Val Polymorphism rs16831887 -
ANKAR Q7Z5J8 VAR_032165 p.Leu1077Phe Polymorphism rs1225090 -
ANKDD1A Q495B1 VAR_032358 p.Lys355Glu Polymorphism rs34988193 -
ANKEF1 Q9NU02 VAR_024172 p.Leu324Gln Polymorphism rs652633 -
ANKEF1 Q9NU02 VAR_033500 p.Pro74Thr Polymorphism rs7260784 -
ANKEF1 Q9NU02 VAR_033501 p.Gly412Glu Polymorphism rs524625 -
ANKEF1 Q9NU02 VAR_033502 p.Arg742Gln Polymorphism rs6087119 -
ANKEF1 Q9NU02 VAR_035609 p.Lys694Asn Unclassified - A breast cancer sample
ANKFN1 Q8N957 VAR_060725 p.Val445Ile Polymorphism rs10852985 -
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 -
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]
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 -
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 -
ANKRD1 Q15327 VAR_047112 p.Thr116Met Disease - Total anomalous pulmonary venous return (TAPVR) [MIM:106700]
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 -
ANKRD26P1 Q6NSI1 VAR_040003 p.Lys265Thr Polymorphism rs1436436 -
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 -
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
ANKRD2 Q9GZV1 VAR_042498 p.Ala62Thr Polymorphism rs7094973 -
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 -
ANKRD53 Q8N9V6 VAR_030300 p.Leu153Ile Polymorphism rs17853403 -
ANKRD53 Q8N9V6 VAR_054427 p.Met243Thr Polymorphism rs36123544 -
ANKRD53 Q8N9V6 VAR_061018 p.Ala105Gly Polymorphism rs35096506 -
ANKRD53 Q8N9V6 VAR_067464 p.Arg349Leu Polymorphism rs11688921 -
ANKRD53 Q8N9V6 VAR_067465 p.His431Leu Polymorphism rs3796100 -
ANKRD55 Q3KP44 VAR_030283 p.Val345Met Polymorphism rs321776 -
ANKRD55 Q3KP44 VAR_055516 p.Arg594Gln Polymorphism rs34879141 -
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 -
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 -
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 -
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, 10 (SCAR10) [MIM:613728]
ANO1 Q5XXA6 VAR_032417 p.Phe608Ser Polymorphism rs2186797 -
ANO1 Q5XXA6 VAR_032418 p.Gly983Arg Polymorphism rs3740722 -
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 2L (LGMD2L) [MIM:611307]
ANO5 Q75V66 VAR_063583 p.Arg758Cys Disease - Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319]
ANO5 Q75V66 VAR_068247 p.Arg58Trp Unclassified - -
ANO5 Q75V66 VAR_068248 p.Trp655Cys Unclassified - -
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 - Hyaline fibromatosis syndrome (HFS) [MIM:228600]
ANTXR2 P58335 VAR_022688 p.Gly105Asp Disease - Hyaline fibromatosis syndrome (HFS) [MIM:228600]
ANTXR2 P58335 VAR_022689 p.Ile189Thr Disease - Hyaline fibromatosis syndrome (HFS) [MIM:228600]
ANTXR2 P58335 VAR_022690 p.Cys218Arg Disease - Hyaline fibromatosis syndrome (HFS) [MIM:228600]
ANTXR2 P58335 VAR_022692 p.Leu329Arg Disease - Hyaline fibromatosis syndrome (HFS) [MIM:228600]
ANTXR2 P58335 VAR_022693 p.Ala357Pro Polymorphism rs12647691 -
ANTXR2 P58335 VAR_022694 p.Tyr381Cys Disease - Hyaline fibromatosis syndrome (HFS) [MIM:228600]
ANTXRL A6NF34 VAR_042963 p.Pro547Arg Polymorphism rs7091749 -
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 - -
ANXA2R Q3ZCQ2 VAR_033348 p.Gln119Arg Polymorphism rs1054428 -
ANXA2R Q3ZCQ2 VAR_033349 p.Arg186Trp Polymorphism rs10971 -
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 -
ANXA8L2 Q5VT79 VAR_048254 p.Ala177Gly Polymorphism rs3013886 -
ANXA8L2 Q5VT79 VAR_067447 p.Ala134Val Polymorphism rs2271519 -
ANXA8L2 Q5VT79 VAR_067448 p.Asn192Lys Polymorphism rs977788 -
ANXA8 P13928 VAR_000604 p.Ser6Ala Polymorphism - -
ANXA8 P13928 VAR_030630 p.Gly177Ala 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 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 -
AP5M1 Q9H0R1 VAR_055484 p.Gly226Arg Polymorphism rs10137359 -
AP5M1 Q9H0R1 VAR_055485 p.Glu379Asp Polymorphism rs10140245 -
AP5Z1 O43299 VAR_049511 p.Ser94Cys Polymorphism rs11549839 -
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 -
APBB1IP Q7Z5R6 VAR_050098 p.Thr404Ala Polymorphism rs34081356 -
APBB1IP Q7Z5R6 VAR_059447 p.Ala617Thr Polymorphism rs7903226 -
APBB1 O00213 VAR_014444 p.Met327Val Polymorphism rs1800423 -
APBB1 O00213 VAR_014445 p.Asn396Ser Polymorphism rs1800425 -
APBB2 Q92870 VAR_069029 p.Arg179Gln Polymorphism rs4861358 -
APBB3 O95704 VAR_024702 p.Cys231Arg Polymorphism rs250430 -
APBB3 O95704 VAR_029518 p.Gly165Arg Polymorphism rs7715021 -
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 -
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 -
APCDD1 Q8J025 VAR_050667 p.Val150Ile Polymorphism rs3748415 -
APCDD1 Q8J025 VAR_063497 p.Leu9Arg Disease - Hypotrichosis 1 (HYPT1) [MIM:605389]
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 Unclassified - Colorectal carcinoma
APC P25054 VAR_005036 p.Ile880Thr Disease - Gastric cancer (GASC) [MIM:613659]
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 Polymorphism - -
APC P25054 VAR_008993 p.Val1822Asp Polymorphism rs459552 -
APC P25054 VAR_008994 p.Ile2738Thr Polymorphism - -
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 - -
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 -
APOA1BP Q8NCW5 VAR_032992 p.Val19Leu Polymorphism rs7516274 -
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 Amyloidosis 8 (AMYL8) [MIM:105200]
APOA1 P02647 VAR_000610 p.Leu84Arg Disease - Amyloidosis 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 - -
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 -
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 -
APOBEC3H Q6NTF7 VAR_067444 p.Lys140Glu Polymorphism rs139300 -
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 -
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 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 -
APOB P04114 VAR_067278 p.Ser1613Thr Polymorphism - -
APOB P04114 VAR_067279 p.Ile3835Leu Polymorphism - -
APOB P04114 VAR_067280 p.Ile4314Val Polymorphism - -
APOB P04114 VAR_067281 p.Ile4482Val Polymorphism - -
APOB P04114 VAR_068911 p.Glu1670Asp Polymorphism - -
APOB P04114 VAR_068912 p.Ile2037Asn Polymorphism - -
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 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 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 3 (HLPP3) [MIM:107741]
APOE P02649 VAR_000647 p.Leu46Pro Polymorphism