---------------------------------------------------------------------------- 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 ---------------------------------------------------------------------------- Description: Human polymorphisms and disease mutations: index Name: humsavar.txt Release: 2019_01 of 16-Jan-2019 ---------------------------------------------------------------------------- This file lists all missense variants annotated in human UniProtKB/Swiss-Prot entries. It provides a variant classification which is intended for research purposes only, not for clinical and diagnostic use. - The column 'Type of variant' contains the labels 'Disease', 'Polymorphism', 'Unclassified'. These labels are based on the variant annotation in the corresponding UniProtKB/Swiss-Prot entries, curated from literature reports. They may change over time and must not be considered as a definitive statement about the pathogenic role of a variant. Disease Variants reported to be implicated in disease. Polymorphism Variants not reported to be implicated in disease. Unclassified Variants with uncertain implication in disease. Evidence against or in favor of a pathogenic role is limited, or literature reports are conflicting. - The column 'Disease name' contains the name of the disease or the disease sample in which variants (label:'Disease' or label: 'Unclassified') have been found. Names are only provided for diseases catalogued in OMIM and for cancer samples. Statistics for single amino acid variants: Disease variants: 30425 Polymorphisms: 40028 Unclassified variants: 7902 Total: 78355 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 - A2ML1 A8K2U0 VAR_071854 p.Arg1122Trp Polymorphism rs1860967 - A2ML1 A8K2U0 VAR_071855 p.Met1257Val Polymorphism rs7308811 - A2ML1 A8K2U0 VAR_071856 p.Thr1312Met Polymorphism rs201083574 - A2ML1 A8K2U0 VAR_081010 p.Val296Ala Polymorphism rs192888493 - A2ML1 A8K2U0 VAR_081011 p.Pro356Arg Polymorphism rs863224953 - A2ML1 A8K2U0 VAR_081014 p.Arg1001Trp Polymorphism rs201725377 - A2ML1 A8K2U0 VAR_081015 p.Ala1431Val Polymorphism rs863224955 - 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 Polymorphism rs74315453 - A4GALT Q9NPC4 VAR_017508 p.Gly187Asp Polymorphism rs28940572 - A4GALT Q9NPC4 VAR_017509 p.Pro251Leu Polymorphism rs28940571 - A4GALT Q9NPC4 VAR_022320 p.Gln163Arg Polymorphism rs28915383 - A4GALT Q9NPC4 VAR_080910 p.Gln211Glu Polymorphism rs397514502 - A4GNT Q9UNA3 VAR_022096 p.Ala218Asp Polymorphism rs2246945 - AAAS Q9NRG9 VAR_012804 p.Gln15Lys Disease rs121918549 Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] AAAS Q9NRG9 VAR_012805 p.His160Arg Disease rs1297831120Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] AAAS Q9NRG9 VAR_012806 p.Ser263Pro Disease rs121918550 Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550] AAAS Q9NRG9 VAR_037060 p.Lys108Met Polymorphism rs13330 - AACS Q86V21 VAR_038303 p.Ile118Val Polymorphism rs11549081 - 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.Phe252Cys Polymorphism rs7513079 - AADACL3 Q5VUY0 VAR_060666 p.Pro104Ser Polymorphism rs3010877 - AADACL3 Q5VUY0 VAR_060667 p.Leu128Met Polymorphism rs3000859 - AADACL3 Q5VUY0 VAR_060668 p.Arg186Trp Polymorphism rs17038445 - AADACL3 Q5VUY0 VAR_060670 p.Met307Ile Polymorphism rs3000931 - AADACL3 Q5VUY0 VAR_060671 p.Pro337Leu Polymorphism rs11121969 - AADAC P22760 VAR_014798 p.Val281Ile Polymorphism rs1803155 - AADAT Q8N5Z0 VAR_061005 p.Val243Ile Polymorphism rs56350236 - AAGAB Q6PD74 VAR_021533 p.Ile132Leu Polymorphism rs7173826 - AAK1 Q2M2I8 VAR_031129 p.Lys509Gln Polymorphism rs6715776 - AAK1 Q2M2I8 VAR_040348 p.Ile59Val Polymorphism rs34535244 - AAK1 Q2M2I8 VAR_040349 p.Gln533His Polymorphism rs1263928487- 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 Unclassified rs28936679 - 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 rs387907061 Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096] AARS2 Q5JTZ9 VAR_065957 p.Arg592Trp Disease rs138119149 Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096] AARS2 Q5JTZ9 VAR_071837 p.Phe50Cys Disease rs587777590 Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889] AARS2 Q5JTZ9 VAR_071838 p.Ala77Val Unclassified rs375949891 - AARS2 Q5JTZ9 VAR_071840 p.Arg199Cys Unclassified rs200105202 - AARS2 Q5JTZ9 VAR_071841 p.Glu405Lys Disease rs587777592 Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889] AARS2 Q5JTZ9 VAR_071842 p.Val730Met Unclassified rs35623954 - AARS2 Q5JTZ9 VAR_071843 p.Gly965Arg Disease rs543267101 Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889] AARS P49588 VAR_028204 p.Gly275Asp Polymorphism rs11537667 - AARS P49588 VAR_063527 p.Arg329His Disease rs267606621 Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287] AARS P49588 VAR_067084 p.Asn71Tyr Disease rs387906792 Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287] AARS P49588 VAR_073293 p.Thr608Met Unclassified - - AARS P49588 VAR_073719 p.Lys81Thr Disease rs786205157 Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339] AARS P49588 VAR_073720 p.Arg751Gly Disease rs143370729 Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339] AARS P49588 VAR_079703 p.Gly913Asp Disease rs369774476 Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339] 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 rs1337040042An 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 rs121434578 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, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_019599 p.Gly1381Glu Disease rs28940268 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_019600 p.Arg1514His Disease rs28940270 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_019601 p.Glu1539Lys Disease rs28940271 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_019602 p.Gly1651Ser Disease rs28940568 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [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 Polymorphism rs726070 - 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 rs370640837 A pancreatic ductal adenocarcinoma sample ABCA12 Q86UK0 VAR_067075 p.Thr345Pro Disease rs1295935868Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_067076 p.Ser387Asn Disease rs746315995 Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500] ABCA12 Q86UK0 VAR_067077 p.Gly1136Asp Disease - Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_067078 p.Gly1179Arg Disease rs267606622 Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500] ABCA12 Q86UK0 VAR_067079 p.Trp1235Ser Disease - Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_067080 p.Ile1494Thr Disease rs1263698595Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_067081 p.Gly1559Val Disease rs1457513156Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_067082 p.Pro1798Leu Disease rs181314573 Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] ABCA12 Q86UK0 VAR_067083 p.Thr1980Lys Disease - Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] 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 rs137854496 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 rs137854495 High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_009152 p.Asp1289Asn Disease rs137854500 High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_009153 p.Cys1477Arg Disease rs137854494 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 rs146292819 High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_012618 p.Arg219Lys Polymorphism rs2230806 - ABCA1 O95477 VAR_012619 p.Arg230Cys Polymorphism rs9282541 - ABCA1 O95477 VAR_012620 p.Ala255Thr Disease rs758100110 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 rs141021096 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 rs137854497 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 rs760507032 - ABCA1 O95477 VAR_012635 p.Arg2081Trp Disease rs137854501 High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_012636 p.Pro2150Leu Disease rs369098049 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 rs145183203 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 rs189206655 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 rs137854499 High density lipoprotein deficiency 2 (HDLD2) [MIM:604091] ABCA1 O95477 VAR_062481 p.Pro248Ala Polymorphism rs142625938 - ABCA1 O95477 VAR_062482 p.Glu284Lys Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062483 p.Ser364Cys Polymorphism rs775035559 - ABCA1 O95477 VAR_062484 p.Lys401Gln Polymorphism rs138487227 - 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 rs137854496 High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062488 p.Arg638Gln Polymorphism rs374190304 - ABCA1 O95477 VAR_062489 p.Thr774Ser Polymorphism - - ABCA1 O95477 VAR_062490 p.Glu815Gly Polymorphism rs145582736 - ABCA1 O95477 VAR_062491 p.Trp840Arg Disease rs1322998567High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062492 p.Pro1065Ser Polymorphism - - ABCA1 O95477 VAR_062493 p.Arg1068Cys Disease rs745593394 High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062494 p.Gly1216Val Polymorphism rs562403512 - ABCA1 O95477 VAR_062495 p.Arg1341Thr Polymorphism rs147743782 - ABCA1 O95477 VAR_062496 p.Ser1376Gly Polymorphism rs145689805 - ABCA1 O95477 VAR_062497 p.Leu1379Phe Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062498 p.Arg1615Gln Polymorphism rs1251839800- ABCA1 O95477 VAR_062499 p.Ala1670Thr Polymorphism rs1203589782- 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 rs1055285452High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062503 p.Arg1897Trp Unclassified rs760768125 High density lipoprotein deficiency 2 (HDLD2) [MIM:604091] ABCA1 O95477 VAR_062504 p.Arg1901Ser Disease - High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062505 p.Arg1925Gln Polymorphism rs142688906 - ABCA1 O95477 VAR_062506 p.Phe2163Ser Unclassified - - ABCA1 O95477 VAR_062507 p.Gln2196His Disease rs564764153 High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] ABCA1 O95477 VAR_062508 p.Asp2243Glu Polymorphism rs34879708 - ABCA1 O95477 VAR_062509 p.Val2244Ile Polymorphism rs144588452 - ABCA2 Q9BZC7 VAR_044526 p.Pro583His Polymorphism rs908828 - ABCA2 Q9BZC7 VAR_044527 p.Phe674Val Polymorphism rs2090625 - ABCA3 Q99758 VAR_023497 p.Leu101Pro Disease rs121909182 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_023498 p.Asn568Asp Disease rs121909184 Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921] ABCA3 Q99758 VAR_023499 p.Leu1553Pro Disease rs121909183 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 rs121909205 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008399 p.Arg24His Disease rs62645958 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008400 p.Cys54Tyr Disease rs150774447 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008401 p.Gly65Glu Disease rs62654395 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008401 p.Gly65Glu Disease rs62654395 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008402 p.Cys75Gly Disease rs61748526 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008403 p.Asn96Asp Disease rs61748529 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008404 p.Asn96His Disease rs61748529 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008405 p.Ala192Thr Disease rs61748535 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008406 p.Arg212Cys Disease rs61750200 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008406 p.Arg212Cys Disease rs61750200 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008407 p.Asp249Gly Disease rs62646865 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008408 p.Thr300Asn Disease rs61748544 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008409 p.Ser336Cys Disease rs61748547 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008410 p.Tyr340Asp Disease rs61748548 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008411 p.Ala407Val Disease rs61751264 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008411 p.Ala407Val Disease rs61751264 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008412 p.Ser445Arg Disease rs61748552 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008413 p.Glu471Lys Disease rs1800548 Macular degeneration, age-related, 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 rs62646868 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008415 p.Leu541Pro Disease rs61751392 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008415 p.Leu541Pro Disease rs61751392 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008415 p.Leu541Pro Disease rs61751392 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008416 p.Arg572Pro Disease rs61748559 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008417 p.Arg572Gln Disease rs61748559 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008418 p.Arg602Trp Disease rs61749409 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008419 p.Phe608Ile Disease rs61752398 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008420 p.Val643Gly Polymorphism rs61754024 - ABCA4 P78363 VAR_008421 p.Asp645Asn Disease rs61749418 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008422 p.Gly818Glu Disease rs61750202 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008422 p.Gly818Glu Disease rs61750202 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008423 p.Trp821Arg Disease rs61749433 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008424 p.Gly851Asp Disease rs61749436 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008425 p.Gly863Ala Disease rs76157638 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008425 p.Gly863Ala Disease rs76157638 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008425 p.Gly863Ala Disease rs76157638 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008426 p.Thr901Ala Polymorphism rs61754030 - ABCA4 P78363 VAR_008427 p.Val931Met Disease rs58331765 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008428 p.Arg943Gln Polymorphism rs1801581 - ABCA4 P78363 VAR_008429 p.Gln957Arg Disease rs61749448 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008430 p.Asn965Ser Disease rs201471607 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008431 p.Gly978Cys Disease rs61749452 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008432 p.Glu1036Lys Disease rs61750061 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008433 p.Ala1038Val Disease rs61751374 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008433 p.Ala1038Val Disease rs61751374 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008433 p.Ala1038Val Disease rs61751374 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008434 p.Ser1071Leu Disease rs61750065 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 rs61751398 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008437 p.Thr1112Asn Disease rs61750122 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008438 p.Glu1122Lys Disease rs61751399 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008438 p.Glu1122Lys Disease rs61751399 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008439 p.Arg1129Leu Disease rs1801269 Macular degeneration, age-related, 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 rs61750126 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008441 p.Asp1204Asn Disease rs61750127 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008442 p.Pro1314Thr Polymorphism rs61754041 - ABCA4 P78363 VAR_008443 p.Pro1380Leu Disease rs61750130 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008444 p.His1406Tyr Disease rs61750133 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008445 p.Trp1408Leu Disease rs61750134 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008446 p.Trp1408Arg Disease rs61750135 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008447 p.Thr1428Met Disease rs1800549 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008448 p.Val1429Ala Disease rs61752432 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008449 p.Val1433Ile Disease rs56357060 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008450 p.Gly1439Asp Disease rs61750140 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008451 p.Phe1440Ser Disease rs61750141 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008452 p.Pro1486Leu Disease rs61750145 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008453 p.Cys1488Arg Disease rs61750146 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008453 p.Cys1488Arg Disease rs61750146 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008454 p.Cys1490Tyr Disease rs61751402 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008454 p.Cys1490Tyr Disease rs61751402 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008455 p.Arg1517Ser Disease rs1800550 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008456 p.Thr1526Met Disease rs61750152 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008457 p.Asp1532Asn Disease rs62642574 Stargardt disease 1 (STGD1) [MIM:248200] 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 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008458 p.Ile1562Thr Disease rs1762111 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008459 p.Gly1578Arg Disease rs1800551 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008460 p.Leu1631Pro Disease rs61750158 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008461 p.Arg1640Trp Disease rs61751404 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008461 p.Arg1640Trp Disease rs61751404 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008462 p.Tyr1652Asp Disease rs61750560 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008463 p.Ser1696Asn Disease rs61750564 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 rs61750567 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008466 p.Ala1794Asp Disease rs61751406 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008467 p.Arg1820Pro Disease rs62646875 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008468 p.His1838Tyr Disease rs62642562 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008469 p.Arg1843Trp Disease rs62642576 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008470 p.Asn1868Ile Polymorphism rs1801466 - ABCA4 P78363 VAR_008471 p.Gly1886Glu Disease rs62642579 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008473 p.Arg1898His Disease rs1800552 Macular degeneration, age-related, 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 rs56142141 - 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 rs28938473 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008476 p.Leu1970Phe Disease rs28938473 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008477 p.Gly1977Ser Disease rs61750639 Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_008477 p.Gly1977Ser Disease rs61750639 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008478 p.Leu2027Phe Disease rs61751408 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008478 p.Leu2027Phe Disease rs61751408 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008480 p.Arg2030Gln Disease rs61750641 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008480 p.Arg2030Gln Disease rs61750641 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008481 p.Val2050Leu Disease rs41292677 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008482 p.Arg2077Trp Disease rs61750645 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008483 p.Glu2096Lys Disease rs61750646 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008484 p.Arg2106Cys Disease rs61750648 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_008484 p.Arg2106Cys Disease rs61750648 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008485 p.Arg2107His Disease rs62642564 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008486 p.His2128Arg Disease rs61750651 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008487 p.Glu2131Lys Disease rs61750652 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008488 p.Arg2139Trp Disease rs61750653 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008489 p.Cys2150Tyr Disease rs61751384 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_008489 p.Cys2150Tyr Disease rs61751384 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008490 p.Lys2160Arg Disease rs281865405 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008491 p.Asp2177Asn Polymorphism rs1800555 - ABCA4 P78363 VAR_008492 p.Ala60Val Disease rs55732384 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_008493 p.Asp846His Polymorphism rs61754027 - ABCA4 P78363 VAR_008494 p.Ile1846Thr Polymorphism rs61750575 - ABCA4 P78363 VAR_008495 p.Arg2038Trp Disease rs61750643 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_009157 p.Ser2255Ile Polymorphism rs6666652 - ABCA4 P78363 VAR_012493 p.Leu11Pro Disease rs62645946 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012495 p.Asn58Lys Disease rs61748524 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 rs61751411 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012498 p.Pro68Leu Disease rs62654397 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012499 p.Pro68Arg Disease rs62654397 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012500 p.Gly72Arg Disease rs61751412 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012501 p.Val77Glu Disease rs61748527 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012502 p.Ser100Pro Disease rs61748530 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012503 p.Arg152Gln Polymorphism rs62646862 - ABCA4 P78363 VAR_012504 p.Ile156Val Disease rs62646863 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012505 p.Gln190His Disease rs281865397 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012506 p.Ser206Arg Disease rs61748536 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012507 p.Arg212His Polymorphism rs6657239 - ABCA4 P78363 VAR_012508 p.Arg220Cys Disease rs61748538 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012509 p.Cys230Ser Disease rs1057518767Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012510 p.Leu244Pro Disease rs62646864 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012511 p.Asn247Ser Disease rs62645950 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012512 p.Pro309Arg Disease rs61748545 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012513 p.Glu328Val Disease rs61751419 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012514 p.Arg333Trp Disease rs61748546 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012515 p.Trp339Gly Disease rs61751420 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012516 p.Asn380Lys Disease rs61748549 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 rs61748556 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012520 p.Ala549Pro Disease rs61748557 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012521 p.Gly550Arg Disease rs61748558 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012522 p.Val552Ile Polymorphism rs145525174 - ABCA4 P78363 VAR_012523 p.Arg602Gln Disease rs61749410 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012524 p.Gly607Arg Disease rs61749412 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012525 p.Gly607Trp Disease rs61749412 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012526 p.Gln635Lys Disease rs61749414 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012527 p.Gln636His Disease rs61752400 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012528 p.Val643Met Disease rs61749417 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012529 p.Arg653Cys Disease rs61749420 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012530 p.Leu686Ser Disease rs61752402 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012531 p.Thr716Met Disease rs61749426 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012532 p.Cys764Tyr Disease rs61749428 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012533 p.Ser765Arg Disease rs61752404 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012534 p.Ser765Asn Disease rs61749429 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012535 p.Val767Asp Disease rs61751395 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012536 p.Leu797Pro Disease rs61749432 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 rs61749435 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012539 p.Ala854Thr Disease rs61749437 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012541 p.Phe873Leu Disease rs62642570 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012542 p.Thr897Ile Disease rs61749440 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012543 p.His914Arg Polymorphism - - ABCA4 P78363 VAR_012544 p.Val935Ala Disease rs61749444 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012545 p.Arg943Trp Disease rs61749446 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012545 p.Arg943Trp Disease rs61749446 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012546 p.Thr959Ile Disease rs61752409 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012547 p.Thr971Asn Disease rs61749450 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012548 p.Thr972Asn Unclassified rs61749451 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012549 p.Ser974Pro Disease rs281865400 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012550 p.Val989Ala Disease rs61749454 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012551 p.Gly991Arg Disease rs61749455 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012552 p.Leu1014Arg Disease rs61749456 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012553 p.Thr1019Ala Disease rs61749457 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012554 p.Thr1019Met Disease rs201855602 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012555 p.Glu1022Lys Disease rs61749459 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012556 p.Lys1031Glu Disease rs61750060 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012557 p.Arg1055Trp Disease rs61752412 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012558 p.Ser1063Pro Disease rs61752413 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012559 p.Glu1087Asp Disease rs61752416 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012560 p.Gly1091Glu Disease rs61752417 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 rs61750120 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012562 p.Arg1108Cys Disease rs61750120 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012563 p.Arg1108His Disease rs61750121 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012564 p.Arg1108Leu Disease rs61750121 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012565 p.Arg1129Cys Disease rs779426136 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012566 p.Lys1148Thr Polymorphism - - ABCA4 P78363 VAR_012567 p.Leu1250Pro Disease rs61750128 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012568 p.Thr1253Met Unclassified rs61752424 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012569 p.Arg1300Gln Disease rs61750129 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012570 p.Leu1388Pro Disease rs61750131 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012571 p.Glu1399Lys Disease rs62642573 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 rs61752433 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012574 p.Arg1443His Disease rs61750142 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012575 p.Cys1488Phe Disease rs61750147 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012576 p.Cys1488Tyr Disease rs61750147 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 rs281865402 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012579 p.Leu1525Pro Disease rs61750151 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012580 p.Thr1537Met Disease rs62642575 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012581 p.Ala1598Asp Disease rs61750155 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_012582 p.Ala1637Thr Polymorphism rs61754056 - ABCA4 P78363 VAR_012583 p.Arg1640Gln Disease rs61751403 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_012583 p.Arg1640Gln Disease rs61751403 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012583 p.Arg1640Gln Disease rs61751403 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012585 p.Ser1689Pro Disease rs61753020 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012586 p.Val1693Ile Disease rs61750563 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012587 p.Arg1705Leu Disease rs61753021 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012588 p.Met1733Thr Disease rs765563320 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012589 p.Ser1736Pro Disease rs61750568 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012590 p.Gly1748Arg Disease rs61753025 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012592 p.Leu1763Pro Disease rs61753028 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012593 p.Pro1776Leu Disease rs281865404 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012594 p.Pro1780Ala Disease rs121909207 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012595 p.Asn1799Asp Disease rs61750574 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012596 p.Asn1805Asp Disease rs61753029 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012597 p.Glu1817Asp Polymorphism - - ABCA4 P78363 VAR_012598 p.Val1884Glu Disease rs62642578 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012599 p.Glu1885Lys Disease rs62642563 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012600 p.Val1896Asp Disease rs61750636 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012601 p.Val1921Met Polymorphism rs61753032 - ABCA4 P78363 VAR_012602 p.Leu1940Pro Disease rs61753033 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012602 p.Leu1940Pro Disease rs61753033 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012603 p.Leu1971Arg Disease rs61753034 Fundus flavimaculatus (FFM) [MIM:248200] ABCA4 P78363 VAR_012604 p.Gly1975Arg Disease rs61753036 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012605 p.Leu2035Pro Disease rs61750642 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012606 p.Gly2059Ala Polymorphism - - ABCA4 P78363 VAR_012607 p.Leu2060Arg Disease rs61753039 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 rs61750645 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012610 p.Arg2107Cys Disease rs2297669 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012611 p.Gly2146Asp Disease rs61753044 Cone-rod dystrophy 3 (CORD3) [MIM:604116] ABCA4 P78363 VAR_012612 p.Arg2149Leu Disease rs61750655 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012613 p.Cys2150Arg Disease rs61750656 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012614 p.Ala2216Val Polymorphism rs886044763 - ABCA4 P78363 VAR_012615 p.Leu2229Pro Disease rs61750659 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012616 p.Leu2241Val Disease rs61748521 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_012617 p.Arg2263Leu Disease rs281865407 Stargardt disease 1 (STGD1) [MIM:248200] ABCA4 P78363 VAR_014703 p.Ser752Ile Polymorphism rs1801369 - ABCA4 P78363 VAR_035736 p.Thr224Met Unclassified rs373540612 A breast cancer sample ABCA4 P78363 VAR_067427 p.Ala762Glu Disease - Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_067428 p.Trp1724Cys Disease - Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_067429 p.Ile2047Asn Disease - Macular degeneration, age-related, 2 (ARMD2) [MIM:153800] ABCA4 P78363 VAR_067430 p.Cys2137Tyr Disease - Macular degeneration, age-related, 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 - ABCA7 Q8IZY2 VAR_081204 p.Arg880Gln Disease - Alzheimer disease 9 (AD9) [MIM:608907] 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 rs11568372 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_010271 p.Glu297Gly Disease rs11568372 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 rs1274558905Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013335 p.Asp482Gly Disease rs72549402 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013336 p.Gly982Arg Disease rs72549399 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 rs72549395 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_013339 p.Arg1268Gln Disease rs72549394 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_030386 p.Glu186Gly Disease rs72551307 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030387 p.Ile206Val Polymorphism rs11568357 - ABCB11 O95342 VAR_030388 p.Gly238Val Disease rs72551306 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_030389 p.Arg299Lys Polymorphism rs2287617 - ABCB11 O95342 VAR_030390 p.Cys336Ser Disease rs72551305 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_030391 p.Arg432Thr Disease rs121908935 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030392 p.Ala570Thr Disease rs886043807 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030393 p.Met677Val Polymorphism rs11568364 - ABCB11 O95342 VAR_030394 p.Thr923Pro Disease rs777469571 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030395 p.Ala926Pro Disease rs72549400 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030396 p.Arg1050Cys Disease rs72549398 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030397 p.Arg1128His Disease rs756220860 Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479] ABCB11 O95342 VAR_030398 p.Glu1186Lys Polymorphism rs1521808 - ABCB11 O95342 VAR_035349 p.Val284Ala Polymorphism rs200739891 - ABCB11 O95342 VAR_035350 p.Arg616Gly Polymorphism - - ABCB11 O95342 VAR_035351 p.Thr619Ala Polymorphism rs912519986 - ABCB11 O95342 VAR_035352 p.Arg698His Polymorphism rs138642043 - ABCB11 O95342 VAR_035353 p.Ala865Val Polymorphism rs118109635 - ABCB11 O95342 VAR_035354 p.Arg958Gln Polymorphism rs761363245 - ABCB11 O95342 VAR_043074 p.Arg415Gln Polymorphism rs371656014 - ABCB11 O95342 VAR_043075 p.Asn591Ser Polymorphism rs11568367 - 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 - ABCB11 O95342 VAR_073967 p.Tyr337His Unclassified - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_073968 p.Tyr472Cys Disease rs369860506 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_073969 p.Arg696Trp Unclassified rs376216286 Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_073970 p.Gln931Pro Unclassified - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_073971 p.Asp1131Val Disease - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] ABCB11 O95342 VAR_073972 p.His1198Arg Unclassified - Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847] 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 rs72552784 - ABCB1 P08183 VAR_015005 p.Gln1107Pro Polymorphism rs55852620 - ABCB1 P08183 VAR_018351 p.Glu108Lys Polymorphism - - ABCB1 P08183 VAR_018352 p.Met986Val Polymorphism rs926081975 - 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 Unclassified rs58238559 - ABCB4 P21439 VAR_023502 p.Ser320Phe Unclassified rs72552778 Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] ABCB4 P21439 VAR_023502 p.Ser320Phe Unclassified rs72552778 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_023502 p.Ser320Phe Unclassified rs72552778 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_023503 p.Ala546Asp Disease rs121918441 Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972] ABCB4 P21439 VAR_023504 p.Pro1168Ser Disease rs121918442 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_024359 p.Arg788Gln Unclassified rs8187801 - 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 rs377268767 - ABCB4 P21439 VAR_043080 p.Trp138Arg Disease rs72552781 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043081 p.Arg150Lys Disease rs757693457 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 rs72552779 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_043084 p.Ser346Ile Disease rs67876345 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043085 p.Ile367Val Polymorphism rs1168923653- ABCB4 P21439 VAR_043086 p.Glu395Gly Disease rs72552777 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043087 p.Thr424Ala Disease rs1263565476Cholestasis, 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 rs1189003716- ABCB4 P21439 VAR_043090 p.Glu528Asp Unclassified rs8187797 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_043091 p.Gly535Asp Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043092 p.Ile541Phe Disease rs66904256 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043092 p.Ile541Phe Disease rs66904256 Gallbladder disease 1 (GBD1) [MIM:600803] 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 Unclassified rs45575636 - ABCB4 P21439 VAR_043096 p.Leu591Gln Disease rs72552776 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_043097 p.Phe711Ser Disease rs72552773 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 Unclassified rs148052192 - ABCB4 P21439 VAR_043102 p.Ala934Thr Unclassified rs61730509 - ABCB4 P21439 VAR_043103 p.Gly983Ser Disease rs56187107 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_043104 p.Leu1082Gln Polymorphism rs1214110864- ABCB4 P21439 VAR_073728 p.Thr34Met Disease rs142794414 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073729 p.Arg47Gly Disease - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073730 p.Arg47Gln Unclassified rs372685632 - ABCB4 P21439 VAR_073731 p.Gly68Arg Disease rs1343667900Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073732 p.Gly70Arg Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073733 p.Leu71His Disease rs780641693 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073734 p.Leu73Val Disease rs8187788 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073734 p.Leu73Val Disease rs8187788 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073735 p.Phe78Cys Disease rs1411970557Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073736 p.Ser99Phe Disease rs1408217402Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073737 p.Gly124Ser Disease - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073738 p.Gly126Glu Disease rs1021988376Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073739 p.Phe154Ser Disease - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073740 p.Thr201Met Disease rs753318087 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073741 p.Ala250Pro Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073742 p.Ala286Val Disease rs765478923 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073742 p.Ala286Val Disease rs765478923 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073743 p.Phe357Leu Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073744 p.Ala364Val Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073745 p.Tyr403His Disease rs121918443 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073746 p.Arg406Gly Disease - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073747 p.Arg406Gln Unclassified rs763807769 - ABCB4 P21439 VAR_073748 p.Asp459His Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073749 p.Val475Ala Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073750 p.Pro479Leu Disease rs748657435 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073751 p.Leu481Arg Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073752 p.Asn510Ser Disease rs375315619 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073753 p.Ala511Thr Disease rs1257887155Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073753 p.Ala511Thr Disease rs1257887155Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073754 p.Glu513Lys Disease - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073755 p.Arg545His Disease - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073756 p.Arg549His Disease rs761238221 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073757 p.Glu558Lys Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073758 p.His589Thr Disease - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073759 p.Thr593Ala Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073760 p.Thr593Met Disease rs571555115 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073761 p.Met630Val Disease rs372476723 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073762 p.Glu647Lys Disease rs972726699 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073763 p.Leu701Pro Disease rs988987669 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073764 p.Thr715Ile Disease rs138773456 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073765 p.Gly723Glu Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073766 p.Pro726Leu Disease rs141677867 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073767 p.Pro726Thr Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073768 p.Ser729Leu Disease rs970324585 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073769 p.Ala737Val Disease rs147134978 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073770 p.Ala840Asp Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073771 p.Gly954Ser Disease rs779829759 Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073772 p.Val964Thr Unclassified - - ABCB4 P21439 VAR_073773 p.Leu975Val Disease rs759787957 Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073774 p.Ser978Pro Disease rs1051861187Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073775 p.Arg1084Trp Disease rs1262922848Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_073776 p.Glu1125Lys Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_073777 p.Ala1193Thr Disease - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347] ABCB4 P21439 VAR_079611 p.Gly536Arg Disease - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_079612 p.Ser1183Leu Disease - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB4 P21439 VAR_079613 p.Gly1185Ser Disease - Gallbladder disease 1 (GBD1) [MIM:600803] ABCB5 Q2M3G0 VAR_028387 p.Lys560Glu Polymorphism rs2301641 - ABCB5 Q2M3G0 VAR_028388 p.Lys669Arg Polymorphism rs13222448 - ABCB5 Q2M3G0 VAR_028389 p.Ala915Thr Polymorphism rs17143304 - ABCB5 Q2M3G0 VAR_028390 p.Glu970Lys Polymorphism rs6461515 - ABCB5 Q2M3G0 VAR_033456 p.Gln905His Polymorphism rs35885925 - ABCB5 Q2M3G0 VAR_035731 p.Glu675Val Unclassified - A colorectal cancer sample ABCB5 Q2M3G0 VAR_062662 p.Ala880Thr Unclassified rs1187237313A 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 Unclassified rs387906911 Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497] ABCB6 Q9NP58 VAR_067395 p.Leu811Val Disease rs387906910 Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497] ABCB6 Q9NP58 VAR_070602 p.Ser170Gly Disease rs397514757 Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_070603 p.Leu356Pro Disease rs397514756 Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_070604 p.Gly579Glu Disease rs397514758 Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_071133 p.Arg375Gln Disease rs754667801 Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153] ABCB6 Q9NP58 VAR_071134 p.Arg375Trp Disease rs764893806 Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153] ABCB6 Q9NP58 VAR_071135 p.Ala453Val Disease - Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_071136 p.Gln555Lys Disease rs796065353 Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_073973 p.Ser322Arg Disease - Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_073974 p.Tyr424His Disease - Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402] ABCB6 Q9NP58 VAR_076206 p.Arg723Gln Disease rs148211042 Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153] ABCB7 O75027 VAR_009156 p.Ile400Met Disease rs72554634 Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] ABCB7 O75027 VAR_012640 p.Glu433Lys Disease rs80356714 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 rs80356713 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 rs515726147 Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] ABCB8 Q9NUT2 VAR_013331 p.Val152Ile Polymorphism rs4148844 - 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 - ABCC11 Q96J66 VAR_077575 p.Arg630Trp Polymorphism rs41282045 - ABCC11 Q96J66 VAR_077576 p.Met970Val Polymorphism rs41280943 - 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 - ABCC1 P33527 VAR_011488 p.Arg633Gln Polymorphism rs112282109 - 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 rs369410659 - 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 rs72558202 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 rs72558200 Dubin-Johnson syndrome (DJS) [MIM:237500] ABCC2 Q92887 VAR_013328 p.Ile1173Phe Disease rs72558201 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 - ABCC2 Q92887 VAR_070607 p.Thr486Ile Polymorphism rs17222589 - ABCC2 Q92887 VAR_070608 p.Gly921Ser Polymorphism rs41318029 - ABCC2 Q92887 VAR_070609 p.Arg1174His Polymorphism rs139188247 - ABCC2 Q92887 VAR_070610 p.Asn1244Lys Polymorphism rs757141905 - 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 Polymorphism rs11568644 - ABCC4 O15439 VAR_045684 p.Tyr556Cys Polymorphism rs753414892 - ABCC4 O15439 VAR_045685 p.Val776Ile Polymorphism rs146708960 - ABCC4 O15439 VAR_045686 p.Arg820Ile Polymorphism rs11568659 - ABCC4 O15439 VAR_045687 p.Val854Phe Polymorphism rs11568694 - ABCC4 O15439 VAR_045688 p.Ile866Val Polymorphism rs139970608 - 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 rs63750427 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 rs72657696 - ABCC6 O95255 VAR_013365 p.Arg64Trp Polymorphism rs557180313 - ABCC6 O95255 VAR_013366 p.Gly207Arg Polymorphism rs72657697 - ABCC6 O95255 VAR_013367 p.Arg265Gly Polymorphism rs72657698 - ABCC6 O95255 VAR_013368 p.Lys281Glu Polymorphism rs4780606 - ABCC6 O95255 VAR_013369 p.Ile319Val Polymorphism rs72657699 - ABCC6 O95255 VAR_013370 p.Thr364Arg Disease rs72653759 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 rs63750987 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013381 p.Arg1138Pro Disease rs60791294 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 rs63751325 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 rs63750410 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_013388 p.Arg1314Gln Disease rs63751086 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 rs63751111 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 Disease rs2856597 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067842 p.Glu125Lys Disease rs3853814 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067843 p.Gly129Glu Disease rs72653753 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067844 p.Ala158Val Polymorphism rs2606921 - 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 rs72653763 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 rs768869262 - 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 rs537233133 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 rs63750987 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 rs63750414 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 rs63750622 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 rs387906859 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_067909 p.Arg1459Cys Disease rs72547524 Pseudoxanthoma elasticum (PXE) [MIM:264800] ABCC6 O95255 VAR_072803 p.Pro4His Unclassified - - ABCC6 O95255 VAR_072804 p.Ala9Glu Unclassified - - ABCC6 O95255 VAR_072805 p.Pro21Ser Unclassified rs1235912910- ABCC6 O95255 VAR_072806 p.Arg64Gln Unclassified rs777566074 - ABCC6 O95255 VAR_072807 p.Ala90Thr Unclassified rs957828732 - ABCC6 O95255 VAR_072808 p.Arg419Gln Unclassified rs772434460 - ABCC6 O95255 VAR_072809 p.Leu605Pro Unclassified rs768271196 - ABCC6 O95255 VAR_072810 p.Glu709Gly Unclassified - - ABCC6 O95255 VAR_072811 p.Met834Thr Unclassified rs1355752953- ABCC6 O95255 VAR_072812 p.Leu948Pro Unclassified - - ABCC6 O95255 VAR_072813 p.Ala1442Thr Unclassified - - ABCC8 Q09428 VAR_000100 p.Gly716Val Disease rs72559723 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 rs72559734 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 rs137852672 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008642 p.Asn188Ser Disease rs797045213 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008643 p.Arg275Gln Polymorphism rs185040406 - ABCC8 Q09428 VAR_008644 p.Asn406Asp Disease rs72559728 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008645 p.Val560Met Polymorphism rs4148619 - ABCC8 Q09428 VAR_008646 p.Phe591Leu Disease rs72559726 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008647 p.Asp810Asn Polymorphism rs767572066 - ABCC8 Q09428 VAR_008648 p.Arg834Cys Polymorphism rs140068774 - ABCC8 Q09428 VAR_008649 p.Thr1138Met Disease rs201351976 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008650 p.Arg1214Gln Disease rs367850779 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 rs925231098 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008654 p.Gly1381Ser Disease rs773448052 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008655 p.Arg1393His Disease rs769279368 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008656 p.Gly1478Arg Disease rs72559715 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_008658 p.Val1572Ile Polymorphism rs8192690 - ABCC8 Q09428 VAR_015006 p.Asp673Asn Polymorphism rs777986828 - ABCC8 Q09428 VAR_015007 p.Val1360Met Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_015008 p.Arg1436Gln Disease rs387906407 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_015009 p.Glu1506Lys Disease rs137852671 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_015010 p.Leu1543Pro Disease rs72559713 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_029777 p.Leu104Val Polymorphism rs10400391 - ABCC8 Q09428 VAR_029778 p.Phe132Leu Disease rs80356637 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_029779 p.Leu213Arg Disease rs80356642 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 rs137852674 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 rs193922400 Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374] ABCC8 Q09428 VAR_029784 p.Arg1352His Disease rs28936370 Leucine-induced hypoglycemia (LIH) [MIM:240800] ABCC8 Q09428 VAR_029785 p.Arg1379Cys Disease rs137852673 Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374] ABCC8 Q09428 VAR_029787 p.Ile1424Val Disease rs80356653 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_031349 p.Gly7Arg Disease rs781059815 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031350 p.Val21Asp Disease rs200670692 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 rs201682634 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031354 p.Val86Ala Disease rs193929360 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_031355 p.Gly111Arg Disease rs761749884 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031356 p.Ala116Pro Disease rs72559731 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 rs769569410 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031359 p.Cys418Arg Disease rs67254669 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031360 p.Arg495Gln Disease rs1420601296Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031361 p.Glu501Lys Disease rs372307320 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 rs72559727 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 rs761862121 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031370 p.Ser956Phe Disease rs72559721 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 rs1262517518Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031373 p.Arg1214Trp Disease rs139964066 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031374 p.Asn1295Lys Disease rs542157938 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031375 p.Lys1336Asn Disease rs67767715 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 rs72559718 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031380 p.Gly1400Arg Disease rs137852676 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_031380 p.Gly1400Arg Disease rs137852676 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031381 p.Arg1418His Disease rs1446306735Familial 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 rs72559717 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 rs72559716 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 rs746480424 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031388 p.Val1550Asp Disease rs1221760584Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_031389 p.Leu1551Val Disease rs1320740169Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072928 p.Pro45Leu Disease rs267606623 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072929 p.Asn72Ser Disease rs80356634 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072930 p.Val86Gly Disease rs193929360 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072931 p.Phe132Val Disease rs80356637 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072932 p.Pro207Ser Disease - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072933 p.Glu208Lys Disease - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072934 p.Asp209Glu Disease rs80356640 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072935 p.Gln211Lys Disease rs193929366 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072936 p.Leu225Pro Disease rs1048095 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072937 p.Thr229Ile Disease rs768017509 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072938 p.Tyr263Asp Disease rs778892038 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072939 p.Glu382Lys Disease rs80356651 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072940 p.Leu511Met Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072941 p.Gly716Asp Disease rs72559723 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072942 p.Glu824Lys Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072943 p.Leu890Pro Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072944 p.Ala1184Glu Disease rs137852675 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072945 p.Glu1326Lys Disease rs200563930 Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC8 Q09428 VAR_072946 p.Gly1378Ser Disease rs925231098 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072947 p.Ser1388Tyr Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072948 p.Leu1389Pro Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072949 p.Ala1457Val Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072950 p.Asn1480Ile Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072951 p.Asp1505Glu Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072952 p.Ile1511Ser Disease - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] ABCC8 Q09428 VAR_072953 p.Val1522Leu Disease - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] ABCC9 O60706 VAR_018483 p.Ala1513Thr Disease rs72559751 Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569] ABCC9 O60706 VAR_048143 p.Pro1108Ser Polymorphism rs35404804 - ABCC9 O60706 VAR_066210 p.Thr1547Ile Disease rs387906805 Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050] ABCC9 O60706 VAR_068485 p.His60Tyr Disease rs387907230 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068486 p.Asp207Glu Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068487 p.Gly380Cys Disease rs1165205076Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068488 p.Pro432Leu Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068489 p.Ala478Val Disease rs387907211 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068490 p.Ser1020Pro Disease rs387907229 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068491 p.Phe1039Ser Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068492 p.Cys1043Tyr Disease rs387907210 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068493 p.Ser1054Tyr Disease - Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068494 p.Arg1116Cys Disease rs387907228 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068495 p.Arg1116His Disease rs387907227 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068496 p.Arg1154Gln Disease rs387907209 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCC9 O60706 VAR_068497 p.Arg1154Trp Disease rs387907208 Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] ABCD1 P33897 VAR_000024 p.Ser98Leu Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000025 p.Arg104Cys Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000026 p.Arg104His Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000027 p.Thr105Ile Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000028 p.Leu107Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000029 p.Ser108Trp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000030 p.Gly116Arg Disease rs398123110 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000033 p.Ala141Thr Disease rs193922097 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000034 p.Asn148Ser Disease rs128624216 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000035 p.Ser149Asn Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000036 p.Arg152Cys Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000037 p.Arg152Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000038 p.Arg163His Disease rs1057517954Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000039 p.Tyr174Asp Disease rs128624217 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000040 p.Tyr174Ser Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000041 p.Gln178Glu Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000042 p.Tyr181Cys Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000043 p.Arg182Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000044 p.Asp194His Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000045 p.Asp200Val Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000046 p.Leu211Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000047 p.Leu220Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000048 p.Asp221Gly Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000049 p.Thr254Met Disease rs1131691743Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000050 p.Thr254Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000051 p.Pro263Leu Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000052 p.Gly266Arg Disease rs128624218 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000053 p.Lys276Glu Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000054 p.Gly277Arg Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000056 p.Gly277Trp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000057 p.Glu291Asp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000058 p.Glu291Lys Disease rs128624213 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000060 p.Ala294Thr Disease rs1131691954Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000061 p.Ser342Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000062 p.Arg389Gly Disease rs128624215 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000063 p.Arg389His Disease rs886044777 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000064 p.Arg401Gln Disease rs128624219 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000065 p.Arg418Trp Disease rs128624220 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000066 p.Pro484Arg Disease rs128624214 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000067 p.Gly507Val Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000068 p.Gly512Ser Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000069 p.Ser515Phe Disease rs128624223 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000070 p.Arg518Gln Disease rs398123102 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000071 p.Arg518Trp Disease rs128624224 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000072 p.Gly522Trp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000074 p.Pro534Leu Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000075 p.Pro560Leu Disease rs398123105 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000076 p.Pro560Arg Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000077 p.Met566Lys Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000078 p.Arg591Gln Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000079 p.Ser606Leu Disease rs128624225 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000080 p.Ser606Pro Disease rs201774661 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000081 p.Glu609Gly Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000082 p.Glu609Lys Disease rs150346282 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000083 p.Arg617Cys Disease rs4010613 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000084 p.Arg617Gly Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000085 p.Arg617His Disease rs11146842 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000086 p.Ala626Thr Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000087 p.Asp629His Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000089 p.Arg660Trp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_000090 p.Trp679Arg Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009349 p.Glu90Lys Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009350 p.Ser103Arg Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009351 p.Thr105Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009352 p.Ser108Leu Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009353 p.Arg113Cys Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009354 p.Pro143Ser Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009355 p.Arg152Leu Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009356 p.Arg152Ser Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009357 p.Ser161Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009358 p.Arg163Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009359 p.Tyr174Cys Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009360 p.Arg189Trp Disease rs1131691916Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009361 p.Leu190Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009362 p.Thr198Lys Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009363 p.Asp200Asn Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009364 p.Ser213Cys Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009365 p.Asn214Asp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009366 p.Pro218Thr Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009367 p.Leu229Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009368 p.Glu271Lys Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009369 p.Arg285Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009370 p.Tyr296Cys Disease rs797044610 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009371 p.Gly298Asp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009372 p.Glu302Lys Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009373 p.Leu322Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009374 p.Lys336Met Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009375 p.Arg401Trp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009376 p.Gly529Ser Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009377 p.Phe540Ser Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009378 p.Pro543Leu Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009379 p.Gln544Arg Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009380 p.Ser552Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009381 p.Arg554His Disease rs201568579 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009382 p.Arg591Trp Disease rs398123106 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009383 p.Ala616Val Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009384 p.Glu630Gly Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009385 p.Cys631Tyr Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009386 p.Ser633Arg Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009387 p.Ser636Ile Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009388 p.Asp638Tyr Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009389 p.Ala646Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009390 p.Leu654Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009391 p.His667Asp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009392 p.Thr668Ile Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_009393 p.Thr693Met Disease rs782311214 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013340 p.Asn13Thr Polymorphism rs183021839 - ABCD1 P33897 VAR_013341 p.Ala99Asp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013342 p.Arg113Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013344 p.Lys217Glu Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013345 p.Val224Glu Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013346 p.Arg274Trp Disease rs782760033 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013347 p.Arg280Cys Disease rs193922098 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013349 p.Trp339Arg Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013350 p.Gly343Asp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013352 p.Gln556Arg Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013353 p.Pro560Ser Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013354 p.Arg591Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013355 p.Gly608Asp Disease rs78993751 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013356 p.Ala626Asp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013357 p.Thr632Ile Disease rs1064793877Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013358 p.Ser633Ile Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013359 p.Val635Met Disease rs201427153 Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_013360 p.Arg660Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_023004 p.Cys88Trp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_023005 p.Gly343Ser Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_023006 p.Leu503Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_023007 p.Ser514Arg Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067240 p.Thr198Arg Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067241 p.Gly266Glu Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067242 p.Leu523Phe Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067243 p.Phe540Cys Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067244 p.Thr632Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067245 p.Glu640Lys Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067246 p.Gly677Asp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067328 p.Leu516Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_067329 p.Arg660Gln Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_075284 p.Ala95Asp Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD1 P33897 VAR_075285 p.Gln316Pro Disease - Adrenoleukodystrophy (ALD) [MIM:300100] ABCD2 Q9UBJ2 VAR_062664 p.Gln244Lys Unclassified - A pancreatic ductal adenocarcinoma sample ABCD3 P28288 VAR_000091 p.Gly17Asp Polymorphism rs121917999 - 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 rs201777056 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 rs192169063 - 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 rs12721643 - 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 rs34783571 - ABCG2 Q9UNQ0 VAR_030357 p.Asp296His Polymorphism rs41282401 - ABCG2 Q9UNQ0 VAR_030358 p.Ala528Thr Polymorphism rs45605536 - ABCG2 Q9UNQ0 VAR_035355 p.Asn590Tyr Polymorphism rs34264773 - ABCG2 Q9UNQ0 VAR_067363 p.Ser13Leu Polymorphism rs1319203095- ABCG2 Q9UNQ0 VAR_067364 p.Arg160Gln Polymorphism rs528655917 - ABCG2 Q9UNQ0 VAR_067365 p.Gly354Arg Polymorphism rs138606116 - ABCG2 Q9UNQ0 VAR_067366 p.Ser441Asn Polymorphism rs1354553769- ABCG4 Q9H172 VAR_048141 p.Pro352Leu Polymorphism rs35060365 - ABCG5 Q9H222 VAR_012244 p.Glu146Gln Disease rs758551848 Sitosterolemia (STSL) [MIM:210250] ABCG5 Q9H222 VAR_012245 p.Arg389His Disease rs119480069 Sitosterolemia (STSL) [MIM:210250] ABCG5 Q9H222 VAR_012246 p.Arg419His Disease rs119479067 Sitosterolemia (STSL) [MIM:210250] ABCG5 Q9H222 VAR_012247 p.Arg419Pro Disease rs119479067 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 rs575266356 Sitosterolemia (STSL) [MIM:210250] ABCG5 Q9H222 VAR_020782 p.Ile523Val Polymorphism rs140899003 - ABCG5 Q9H222 VAR_020783 p.Cys600Tyr Polymorphism rs779109455 - ABCG5 Q9H222 VAR_020784 p.Met622Val Polymorphism rs140374206 - 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 rs766212636 Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012253 p.Pro231Thr Disease rs137852993 Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012254 p.Glu238Lys Unclassified rs34754243 Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012255 p.Ala259Val Polymorphism rs35518570 - ABCG8 Q9H221 VAR_012256 p.Arg263Gln Disease rs137852990 Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012257 p.Thr400Lys Polymorphism rs4148217 - ABCG8 Q9H221 VAR_012258 p.Arg405His Disease rs1177309800Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012259 p.Leu501Pro Disease rs1233989408Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012260 p.Arg543Ser Disease rs201690654 Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012262 p.Leu572Pro Disease rs769576789 Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012263 p.Gly574Glu Disease rs1325979386Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012264 p.Gly574Arg Disease rs137852988 Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012265 p.Gly575Arg Polymorphism - - ABCG8 Q9H221 VAR_012266 p.Leu596Arg Disease rs137852992 Sitosterolemia (STSL) [MIM:210250] ABCG8 Q9H221 VAR_012267 p.Val632Ala Polymorphism rs6544718 - ABCG8 Q9H221 VAR_020785 p.Tyr641Phe Polymorphism rs145125968 - 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 rs28564871 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 - ABHD17B Q5VST6 VAR_031230 p.Gln169Lys Polymorphism rs17854317 - ABHD17B Q5VST6 VAR_054080 p.Arg154Lys Polymorphism rs12380380 - 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 rs104893676 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 Polymorphism rs145548259 - ABHD5 Q8WTS1 VAR_057954 p.Ser115Gly Disease - Chanarin-Dorfman syndrome (CDS) [MIM:275630] ABI1 Q8IZP0 VAR_048159 p.Gly331Ala Polymorphism rs2306236 - ABI3BP Q7Z7G0 VAR_079855 p.Asp670Gly Unclassified - - 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 - ABL1 P00519 VAR_079482 p.Tyr226Cys Disease rs1060499547Congenital heart defects and skeletal malformations syndrome (CHDSKM) [MIM:617602] ABL1 P00519 VAR_079483 p.Ala337Thr Disease rs1060499548Congenital heart defects and skeletal malformations syndrome (CHDSKM) [MIM:617602] 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 rs757430763 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 rs41302905 - ABO P16442 VAR_036738 p.Thr163Met Polymorphism rs55756402 - ABO P16442 VAR_036739 p.Arg198Trp Polymorphism - - ABO P16442 VAR_036740 p.Met214Arg Polymorphism - - 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 - - ABO P16442 VAR_072628 p.Pro234Ala Polymorphism - - ABRAXAS1 Q6UWZ7 VAR_030790 p.Ala239Thr Polymorphism rs12642536 - ABRAXAS1 Q6UWZ7 VAR_054054 p.Ala348Thr Polymorphism rs12642536 - ABRAXAS1 Q6UWZ7 VAR_054055 p.Asp373Asn Polymorphism rs13125836 - ABRAXAS1 Q6UWZ7 VAR_071865 p.Arg361Gln Disease rs201627097 Breast cancer (BC) [MIM:114480] 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 rs146351326 - ACACA Q13085 VAR_036514 p.Arg1687Gln Unclassified rs1357271377A 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_028826 p.Val362Leu Polymorphism rs6776576 - ACAD8 Q9UKU7 VAR_035071 p.Met128Ile Disease rs374317179 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035072 p.Asp134Tyr Disease rs367857040 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035073 p.Gly137Arg Disease rs371449613 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035074 p.Met152Thr Disease rs121908418 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035075 p.Val203Ile Disease rs759877257 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035076 p.Arg302Gln Disease rs121908422 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035077 p.Ala320Thr Disease rs200620279 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035078 p.Arg334Cys Disease rs778823613 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD8 Q9UKU7 VAR_035079 p.Gln385Arg Disease rs367996531 Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283] ACAD9 Q9H845 VAR_033459 p.Arg477Gln Polymorphism rs4494951 - ACAD9 Q9H845 VAR_071892 p.Phe44Ile Disease rs387907041 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_071893 p.Arg127Lys Disease - Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_071894 p.Arg193Trp Unclassified rs377547811 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_071895 p.Ala220Val Disease - Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_071896 p.Ser234Phe Unclassified - Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_071897 p.Arg266Gln Disease rs387907042 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_071898 p.Gly303Ser Unclassified rs143383023 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_071899 p.Ala326Thr Unclassified rs115532916 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_071900 p.Glu413Lys Unclassified rs149753643 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_071901 p.Arg414Cys Disease rs777282696 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_071902 p.Arg417Cys Disease rs368949613 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_071903 p.Arg469Trp Disease rs139145143 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_071904 p.Arg518His Disease rs781149699 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_071905 p.Arg532Trp Disease rs377022708 Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_076177 p.Cys271Gly Disease - Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_076178 p.Val384Met Disease rs1447947184Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACAD9 Q9H845 VAR_076179 p.Leu606His Disease - Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126] ACADL P28330 VAR_000328 p.Ser303Thr Polymorphism rs1801204 - ACADL P28330 VAR_000329 p.Lys333Gln Polymorphism rs2286963 - ACADM P11310 VAR_000317 p.Arg53Cys Disease rs398123072 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000319 p.Met149Ile Disease rs121434277 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000320 p.Thr193Ala Disease rs121434279 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000321 p.Gly195Arg Disease rs121434278 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000322 p.Cys244Arg Disease rs121434276 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000323 p.Gly267Arg Disease rs121434274 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000324 p.Met326Thr Disease rs786204631 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_000325 p.Lys329Glu Disease rs77931234 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 rs121434275 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_013698 p.Tyr67His Disease rs121434280 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_013699 p.Ser245Leu Disease rs121434281 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_013700 p.Arg281Thr Disease rs121434282 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015954 p.Ile78Thr Disease rs398123074 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015955 p.Cys116Tyr Disease rs875989859 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015956 p.Thr121Ile Disease rs121434283 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015957 p.Arg206Leu Disease rs200724875 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015958 p.Gly310Arg Disease rs747268471 Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_015959 p.Tyr352Cys Disease rs1227800781Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM P11310 VAR_035716 p.Pro132Arg Unclassified rs875989854 A breast cancer sample ACADSB P45954 VAR_013010 p.Leu255Phe Disease rs137852649 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 rs121908003 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_000311 p.Gly92Cys Disease rs121908004 Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] ACADS P16219 VAR_000312 p.Arg107Cys Disease rs61732144 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 rs121908005 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 rs121908006 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 rs746688190 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000334 p.Val174Met Disease rs369560930 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000335 p.Gly185Ser Disease rs545215807 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000336 p.Glu218Lys Disease rs1432183079Acyl-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 rs866464446 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000344 p.Gly294Glu Disease rs200573371 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000345 p.Lys299Asn Disease rs774716484 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000347 p.Val317Ala Disease rs398123095 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 rs771874163 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000350 p.Arg366His Disease rs112406105 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 rs1419606204Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000358 p.Arg456His Disease rs794727112 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000359 p.Arg459Trp Disease rs766742117 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000360 p.Gly463Glu Disease rs200366828 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_000361 p.Arg469Gln Disease rs398123083 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 rs759775666 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] ACADVL P49748 VAR_010105 p.Glu534Lys Unclassified 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.Pro2058Leu Polymorphism rs35061438 - ACAN P16112 VAR_056155 p.Ser2120Arg Polymorphism rs34153007 - ACAN P16112 VAR_063053 p.Asp2381Asn Disease rs121913568 Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG) [MIM:612813] ACAN P16112 VAR_063765 p.Val2418Met Disease rs779794758 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) [MIM:165800] ACAN P16112 VAR_080159 p.Pro864Leu Polymorphism rs3743398 - ACAN P16112 VAR_080160 p.Pro913Thr Polymorphism rs35430524 - ACAN P16112 VAR_080161 p.Ser930Ile Polymorphism rs938608 - ACAN P16112 VAR_080162 p.Ser939Thr Polymorphism rs938609 - ACAN P16112 VAR_080163 p.Thr1080Ala Polymorphism rs373544100 - ACAN P16112 VAR_080164 p.Thr1403Ala Polymorphism rs12899191 - ACAN P16112 VAR_080165 p.Glu1508Ala Polymorphism rs2882676 - ACAN P16112 VAR_080166 p.Ile1765Val Polymorphism rs4932439 - ACAN P16112 VAR_080167 p.Ile2079Val Polymorphism rs1042630 - ACAN P16112 VAR_080168 p.Asp2373Glu Polymorphism rs3817428 - ACAN P16112 VAR_080169 p.Gln2500Arg Polymorphism rs1126823 - ACAP1 Q15027 VAR_036178 p.Lys114Arg Unclassified rs759855054 A breast cancer sample ACAP1 Q15027 VAR_036179 p.Arg129Gln Unclassified rs754740225 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 rs120074145 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007499 p.Gly152Ala Disease rs762991875 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007500 p.Asn158Asp Disease rs148639841 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007501 p.Gly183Arg Disease rs120074141 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007502 p.Thr297Met Disease rs886041122 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007503 p.Ala301Pro Disease rs14203212673-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007504 p.Ile312Thr Disease rs120074146 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007505 p.Ala333Pro Disease rs120074147 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007506 p.Gly379Val Disease rs120074143 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1 P24752 VAR_007507 p.Ala380Thr Disease rs120074140 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 - ACD Q96AP0 VAR_075694 p.Pro491Thr Disease rs201441120 Dyskeratosis congenita, autosomal recessive, 7 (DKCB7) [MIM:616553] ACE2 Q9BYF1 VAR_023082 p.Lys26Arg Polymorphism rs4646116 - ACE2 Q9BYF1 VAR_023083 p.Asn638Ser Polymorphism rs183135788 - 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 Polymorphism rs121912703 - 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 - ACE P12821 VAR_074173 p.Asp295Asn Polymorphism rs989500910 - ACER2 Q5QJU3 VAR_027150 p.Ala134Val Polymorphism rs10964136 - ACER3 Q9NUN7 VAR_081205 p.Glu33Gly Disease - Leukodystrophy, progressive, early childhood-onset (PLDECO) [MIM:617762] 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 rs754494408 A colorectal cancer sample ACIN1 Q9UKV3 VAR_050632 p.Arg257Lys Polymorphism rs11555803 - ACIN1 Q9UKV3 VAR_061547 p.Ala447Pro Polymorphism rs941719 - ACKR1 Q16570 VAR_003480 p.Gly42Asp Polymorphism rs12075 - ACKR1 Q16570 VAR_015068 p.Arg89Cys Polymorphism rs34599082 - ACKR1 Q16570 VAR_015069 p.Ala100Thr Polymorphism rs13962 - ACKR1 Q16570 VAR_044116 p.Leu203Gln Polymorphism rs3027020 - ACKR1 Q16570 VAR_044117 p.Ser326Phe Polymorphism rs17851570 - ACKR2 O00590 VAR_024252 p.Tyr373Ser Polymorphism rs2228468 - ACKR2 O00590 VAR_049379 p.Val41Ala Polymorphism rs2228467 - ACKR2 O00590 VAR_049380 p.Ala248Val Polymorphism rs2228469 - ACKR2 O00590 VAR_049381 p.Leu311Val Polymorphism rs6779520 - ACKR3 P25106 VAR_027477 p.Leu219Trp Polymorphism rs10183641 - ACLY P53396 VAR_028230 p.Glu175Asp Polymorphism rs2304497 - ACO1 P21399 VAR_048180 p.Ala395Asp Polymorphism rs3814519 - ACO1 P21399 VAR_048181 p.Gly486Arg Polymorphism rs34630459 - ACO1 P21399 VAR_069413 p.Thr318Met Polymorphism rs150373174 - 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 rs786200924 Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559] ACO2 Q99798 VAR_073435 p.Leu74Val Disease rs141772938 Optic atrophy 9 (OPA9) [MIM:616289] ACO2 Q99798 VAR_073436 p.Gly259Asp Disease rs786204828 Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559] ACO2 Q99798 VAR_073437 p.Gly661Arg Disease rs752034900 Optic atrophy 9 (OPA9) [MIM:616289] ACO2 Q99798 VAR_073438 p.Lys736Asn Disease rs786204829 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 rs118204091 Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] ACOX1 Q15067 VAR_025790 p.Met278Val Disease rs118204090 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 rs780887410 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 rs118204092 Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] ACOX1 Q15067 VAR_067044 p.Ser310Pro Disease rs758962364 Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] ACOX2 Q99424 VAR_078765 p.Arg225Trp Disease rs150832314 Congenital bile acid synthesis defect 6 (CBAS6) [MIM:617308] 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 rs79716074 - 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 - ACP4 Q9BZG2 VAR_078014 p.Arg76Cys Disease rs1057519277Amelogenesis imperfecta 1J (AI1J) [MIM:617297] ACP4 Q9BZG2 VAR_078015 p.Arg111Cys Disease rs202073531 Amelogenesis imperfecta 1J (AI1J) [MIM:617297] ACP4 Q9BZG2 VAR_078016 p.Ala128Pro Unclassified rs767907487 Amelogenesis imperfecta 1J (AI1J) [MIM:617297] ACP4 Q9BZG2 VAR_078017 p.Glu133Lys Unclassified rs779823931 Amelogenesis imperfecta 1J (AI1J) [MIM:617297] ACP4 Q9BZG2 VAR_078018 p.Ser238Leu Disease rs763573828 Amelogenesis imperfecta 1J (AI1J) [MIM:617297] 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 rs387906668 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] ACP5 P13686 VAR_065922 p.Gly109Arg Disease rs781050795 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] ACP5 P13686 VAR_065923 p.Leu201Pro Disease rs387906672 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] ACP5 P13686 VAR_065924 p.Gly215Arg Disease rs781199182 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 rs1449857485Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] ACP5 P13686 VAR_065927 p.Met264Lys Disease rs387906670 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] ACP6 Q9NPH0 VAR_022678 p.Met316Val 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 - 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 rs387907121 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 rs387907120 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 rs1362504214Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] ACSF3 Q4G176 VAR_066510 p.Arg471Gln Disease rs387907119 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 rs122458138 Mental retardation, X-linked 63 (MRX63) [MIM:300387] ACSL4 O60488 VAR_036376 p.Arg133Cys Unclassified rs753267653 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_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 rs559741756 - ACSM5 Q6NUN0 VAR_035253 p.Pro352Arg Polymorphism rs8062344 - ACSM5 Q6NUN0 VAR_035254 p.His360Arg Polymorphism rs12931877 - ACSM5 Q6NUN0 VAR_035255 p.Thr533Met Polymorphism rs554734865 - 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 rs121909521 Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800] ACTA1 P68133 VAR_011681 p.Leu96Pro Disease rs121909519 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011682 p.Asn117Ser Disease rs121909520 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011683 p.Ile138Met Disease rs121909526 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011684 p.Val165Leu Disease rs121909522 Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800] ACTA1 P68133 VAR_011685 p.Glu261Val Disease rs121909523 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_011686 p.Gly270Cys Disease rs121909525 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 rs121909524 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_032917 p.Leu223Pro Disease rs121909530 Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310] ACTA1 P68133 VAR_032918 p.Asp294Val Disease rs121909529 Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310] ACTA1 P68133 VAR_032919 p.Pro334Ser Disease rs121909531 Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310] ACTA1 P68133 VAR_062424 p.Asp3Tyr Disease rs121909527 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 rs398123562 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 rs121909522 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 rs1064794287Nemaline 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 rs1057521118Nemaline 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 rs794727714 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_062463 p.Glu243Lys Disease rs367543051 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 rs121909525 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 rs121909528 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] ACTA1 P68133 VAR_076426 p.Glu197Asp Disease rs869312739 Myopathy, scapulohumeroperoneal (SHPM) [MIM:616852] ACTA1 P68133 VAR_076427 p.Lys328Asn Disease rs398122936 Nemaline myopathy 3 (NEM3) [MIM:161800] ACTA1 P68133 VAR_076428 p.Trp358Cys Disease rs587777354 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 - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045916 p.Arg118Gln Disease rs112602953 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045917 p.Tyr135His Disease rs751300489 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045918 p.Arg149Cys Disease rs121434526 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045919 p.Val154Ala Disease - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045920 p.Arg258Cys Disease rs121434528 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045921 p.Arg258His Disease rs121434527 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045922 p.Arg292Gly Disease - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_045923 p.Thr353Asn Disease - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062577 p.Arg39His Disease rs794728021 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062578 p.Tyr145Cys Disease - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062579 p.Arg185Gln Disease rs1057521105Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062580 p.Arg212Gln Disease rs397516685 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_062581 p.Thr326Asn Disease rs777832794 Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2 P62736 VAR_064516 p.Arg179His Disease rs387906592 Moyamoya disease 5 (MYMY5) [MIM:614042] ACTA2 P62736 VAR_064516 p.Arg179His Disease rs387906592 Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834] ACTB P60709 VAR_030026 p.Arg183Trp Disease rs104894003 Dystonia, juvenile-onset (DJO) [MIM:607371] ACTB P60709 VAR_048185 p.Pro243Leu Polymorphism rs11546899 - ACTB P60709 VAR_067810 p.Asn12Asp Disease rs281875331 Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] ACTB P60709 VAR_067811 p.Leu65Val Disease rs281875332 Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] ACTB P60709 VAR_067812 p.Arg196Cys Disease rs281875333 Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] ACTB P60709 VAR_067813 p.Arg196His Disease rs281875334 Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] ACTC1 P68032 VAR_012857 p.Glu101Lys Disease rs193922680 Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_012858 p.Pro166Ala Disease rs267606628 Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_012859 p.Ala297Ser Disease rs121912675 Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_012860 p.Arg314His Disease rs121912673 Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424] ACTC1 P68032 VAR_012861 p.Ala333Pro Disease rs267606629 Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_012862 p.Glu363Gly Disease rs121912674 Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424] ACTC1 P68032 VAR_045924 p.His90Tyr Disease rs121912676 Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_045925 p.Arg97Cys Disease rs759495229 Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] ACTC1 P68032 VAR_046502 p.Met125Val Disease rs121912677 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 rs104894544 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_032436 p.Pro264Leu Disease rs104894546 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 rs104894545 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_032439 p.Val370Ala Disease rs104894547 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_048186 p.Thr160Ile Polymorphism rs11549206 - ACTG1 P63261 VAR_067814 p.Thr120Ile Disease rs281875325 Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1 P63261 VAR_067815 p.Ala135Val Disease rs11549190 Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1 P63261 VAR_067816 p.Ser155Phe Disease rs281875326 Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1 P63261 VAR_067817 p.Thr203Lys Disease rs281875327 Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1 P63261 VAR_067818 p.Arg254Trp Disease rs281875328 Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1 P63261 VAR_067819 p.Arg256Trp Disease rs281875329 Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1 P63261 VAR_067824 p.Lys118Asn Disease rs267606630 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_067825 p.Ile122Val Disease rs281875330 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_067826 p.Glu241Lys Disease rs267606631 Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_079849 p.Pro70Leu Unclassified - - ACTG1 P63261 VAR_079878 p.Asp187His Disease - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1 P63261 VAR_079879 p.Glu316Lys Unclassified - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG2 P63267 VAR_071279 p.Arg40Cys Disease rs587777385 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071280 p.Arg40His Disease rs587777386 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071281 p.Met45Thr Disease rs864309490 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071282 p.Arg63Gly Disease rs864309491 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071283 p.Pro110Leu Disease - Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071284 p.Tyr134Asn Disease rs587777388 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071285 p.Arg148Ser Disease rs587777383 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071286 p.Arg178Cys Disease rs78001248 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071287 p.Arg178His Disease rs587777384 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071288 p.Arg178Leu Disease rs587777384 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071289 p.Gly198Asp Disease rs864309492 Visceral myopathy (VSCM) [MIM:155310] ACTG2 P63267 VAR_071290 p.Arg257Cys Disease rs587777387 Visceral myopathy (VSCM) [MIM:155310] ACTL6A O96019 VAR_079728 p.Glu227Gln Unclassified rs1035631360- ACTL6A O96019 VAR_079729 p.Arg377Trp Disease rs868064163 - ACTL7A Q9Y615 VAR_024362 p.Val340Met Polymorphism rs7872077 - ACTL7A Q9Y615 VAR_031425 p.Arg45Cys Polymorphism rs368653764 - 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 - ACTN1 P12814 VAR_069910 p.Gln32Lys Disease rs387907346 Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] ACTN1 P12814 VAR_069911 p.Arg46Gln Disease rs387907348 Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] ACTN1 P12814 VAR_069912 p.Val105Ile Disease rs387907345 Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] ACTN1 P12814 VAR_069913 p.Arg197Trp Polymorphism rs904887313 - ACTN1 P12814 VAR_069914 p.Glu225Lys Disease rs387907350 Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] ACTN1 P12814 VAR_069915 p.Arg738Trp Disease rs387907349 Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] ACTN1 P12814 VAR_069916 p.Arg752Gln Disease rs387907347 Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] ACTN2 P35609 VAR_033487 p.Met604Val Polymorphism rs35997569 - ACTN2 P35609 VAR_054628 p.Gln9Arg Disease rs121434525 Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158] ACTN2 P35609 VAR_071970 p.Ala119Thr Disease rs727502886 Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158] ACTN2 P35609 VAR_071970 p.Ala119Thr Disease rs727502886 Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158] ACTN2 P35609 VAR_071971 p.Thr495Met Disease rs200248944 Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158] ACTN2 P35609 VAR_071972 p.Glu583Ala Disease rs200631005 Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158] ACTN2 P35609 VAR_071973 p.Glu628Gly Disease rs786204951 Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158] ACTN2 P35609 VAR_074292 p.Met228Thr Disease rs786205144 Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [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 rs121908415 Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_010379 p.Thr259Ile Disease rs121908416 Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_010380 p.Ser262Pro Disease rs121908417 Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_072115 p.Ser262Phe Disease - Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_072116 p.Ala427Thr Disease rs201128110 Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_072117 p.Asn748Asp Disease - Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_072118 p.Ala784Val Unclassified rs771421233 - ACTN4 O43707 VAR_072119 p.Gly786Arg Polymorphism - - ACTN4 O43707 VAR_072120 p.Pro787Leu Polymorphism - - ACTN4 O43707 VAR_072121 p.Pro787Ser Polymorphism - - ACTN4 O43707 VAR_072122 p.Cys793Tyr Unclassified - - ACTN4 O43707 VAR_072123 p.Gly798Asp Unclassified - - ACTN4 O43707 VAR_072124 p.Val801Met Polymorphism rs141727248 - ACTN4 O43707 VAR_079797 p.Trp59Arg Disease - Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_079798 p.Glu72Gln Disease - Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_079799 p.Phe153Leu Unclassified - Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4 O43707 VAR_079800 p.Arg310Gln Unclassified rs112545413 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 - ACTRT1 Q8TDG2 VAR_080907 p.Glu124Lys Unclassified - - 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 rs56188432 - ACVR1C Q8NER5 VAR_041408 p.Gly216Arg Polymorphism rs34742924 - ACVR1C Q8NER5 VAR_041409 p.Trp267Arg Unclassified - A lung squamous cell carcinoma sample ACVR1C Q8NER5 VAR_041410 p.Ile355Val Polymorphism rs35500979 - ACVR1C Q8NER5 VAR_041411 p.Ile482Val Polymorphism rs7594480 - ACVR1 Q04771 VAR_028444 p.Arg206His Disease rs121912678 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 rs387906591 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 rs387906589 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058422 p.Gly328Arg Disease rs387906588 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058423 p.Gly328Trp Disease rs387906588 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058424 p.Gly356Asp Disease rs121912679 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1 Q04771 VAR_058425 p.Arg375Pro Disease rs387906590 Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR2A P27037 VAR_032809 p.Ser258Arg Polymorphism rs34917571 - ACVR2A P27037 VAR_032810 p.Asp306Asn Unclassified rs764255410 A gastric adenocarcinoma sample ACVR2A P27037 VAR_064692 p.Ala367Thr Unclassified - - ACVR2B Q13705 VAR_013281 p.Arg40His Disease rs121434437 Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751] ACVR2B Q13705 VAR_013282 p.Val494Ile Disease rs121434438 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 rs121909285 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006205 p.Cys51Tyr Disease rs863223409 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006206 p.Arg67Gln Disease rs863223414 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006207 p.Cys77Trp Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006208 p.Asn96Asp Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006210 p.Ser333Ile Disease rs863223413 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006211 p.Arg374Trp Disease rs28936401 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006212 p.Met376Arg Disease rs28936399 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006213 p.Arg411Gln Disease rs121909284 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_006214 p.Pro424Thr Disease rs1085307419Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_011717 p.Ile245Asn Polymorphism rs1804508 - ACVRL1 P37023 VAR_026785 p.Gly48Arg Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026786 p.Arg67Trp Disease rs1085307405Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026787 p.Asp179Ala Disease rs753792569 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026788 p.Gly211Asp Disease rs28936687 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026789 p.Glu215Lys Disease rs754283265 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026790 p.Gly223Arg Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026791 p.Lys229Arg Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026794 p.Leu285Phe Disease rs1085307410Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026795 p.Ala306Pro Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026796 p.His314Tyr Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026797 p.Leu337Pro Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026798 p.Cys344Tyr Disease rs28936688 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026799 p.Ala347Pro Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026800 p.Arg374Gln Disease rs1060503248Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026801 p.Met376Val Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026802 p.Pro378Leu Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026803 p.Glu379Lys Disease rs1131691686Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026804 p.Asp397Gly Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026805 p.Ile398Asn Disease rs121909286 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026806 p.Trp399Ser Disease rs121909289 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026807 p.Glu407Asp Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026808 p.Arg411Pro Disease rs121909284 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026809 p.Arg411Trp Disease rs121909287 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026810 p.Phe425Leu Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026811 p.Phe425Val Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026813 p.Arg479Leu Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026814 p.Ala482Val Disease rs139142865 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026815 p.Arg484Trp Disease rs121909288 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_026816 p.Lys487Thr Disease rs1085307428Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070308 p.Pro30Ser Unclassified rs149664056 - ACVRL1 P37023 VAR_070309 p.Cys34Tyr Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070310 p.Ser38Cys Polymorphism - - ACVRL1 P37023 VAR_070311 p.Trp50Gly Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070312 p.Thr52Ala Disease rs1131691346Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070313 p.His66Pro Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070314 p.Cys69Arg Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070315 p.Asn96Ser Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070316 p.Leu138Pro Polymorphism - - ACVRL1 P37023 VAR_070317 p.Asp176Tyr Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070318 p.Thr197Ile Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070319 p.Trp217Gly Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070320 p.Gly219Asp Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070321 p.Val226Glu Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070322 p.Ser233Leu Disease rs762773076 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070323 p.Gln237Lys Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070324 p.Ile260Leu Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070325 p.Thr265Pro Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070326 p.Thr277Lys Unclassified - - ACVRL1 P37023 VAR_070327 p.His280Arg Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070328 p.Leu289Pro Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070329 p.Leu294Arg Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070330 p.His328Gln Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070331 p.Asn335His Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070332 p.Leu342Pro Polymorphism - - ACVRL1 P37023 VAR_070333 p.Cys344Arg Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070334 p.Ala347Asp Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070335 p.Pro378Ser Disease rs959973779 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070336 p.Ala400Thr Unclassified - - ACVRL1 P37023 VAR_070337 p.Leu403Pro Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070338 p.Gly416Ser Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070339 p.Pro424Arg Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070340 p.Tyr426Cys Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070341 p.Pro433Arg Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070342 p.Pro449Ser Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070343 p.Arg479Pro Disease rs1085307426Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_070344 p.Lys486Glu Unclassified rs113700354 - ACVRL1 P37023 VAR_075231 p.Cys41Gly Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075232 p.Cys41Tyr Disease rs1184716348Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075233 p.Cys46Gly Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075234 p.Arg47Pro Disease rs774389618 Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075235 p.His66Tyr Disease rs1480110873Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075236 p.Cys77Phe Disease rs1330837892Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075237 p.Glu111Asp Polymorphism rs1481094868- ACVRL1 P37023 VAR_075238 p.Gly211Ser Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075239 p.Ile245Val Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075240 p.Leu313Val Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075241 p.Glu379Asp Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075242 p.Val404Gly Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075243 p.Ile417Phe Polymorphism rs141653630 - ACVRL1 P37023 VAR_075244 p.Val441Met Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_075245 p.Cys443Tyr Disease - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] ACVRL1 P37023 VAR_079583 p.Lys8Asn Polymorphism - - ACVRL1 P37023 VAR_079584 p.Glu59Val Unclassified rs1466116430- ACVRL1 P37023 VAR_079585 p.Glu159Val Unclassified - - ACVRL1 P37023 VAR_079586 p.Ser225Cys Unclassified - - ACVRL1 P37023 VAR_079587 p.Thr396Ala Unclassified - - ACY1 Q03154 VAR_020452 p.Arg386Cys Disease rs2229152 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_026104 p.Glu233Asp Disease rs121912699 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_026105 p.Arg353Cys Disease rs121912698 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_036076 p.Glu381Asp Unclassified - A breast cancer sample ACY1 Q03154 VAR_043113 p.Arg197Trp Disease rs121912700 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_043114 p.Arg393His Disease rs121912701 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_051805 p.Asn179Ser Polymorphism rs887540 - ACY1 Q03154 VAR_065562 p.Arg378Gln Disease rs150480963 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY1 Q03154 VAR_065563 p.Arg378Trp Disease rs148346337 Aminoacylase-1 deficiency (ACY1D) [MIM:609924] ACY3 Q96HD9 VAR_048341 p.Arg8Gln Polymorphism rs948445 - ACY3 Q96HD9 VAR_048342 p.Val281Met Polymorphism rs2290959 - ADA2 Q9NZK5 VAR_029802 p.His335Arg Polymorphism rs2231495 - ADA2 Q9NZK5 VAR_071137 p.Gly47Arg Disease rs202134424 Polyarteritis nodosa (PAN) [MIM:615688] ADA2 Q9NZK5 VAR_071138 p.Gly47Val Disease rs200930463 Polyarteritis nodosa (PAN) [MIM:615688] ADA2 Q9NZK5 VAR_071139 p.Ala109Asp Disease rs587777240 Polyarteritis nodosa (PAN) [MIM:615688] ADA2 Q9NZK5 VAR_071140 p.His112Gln Disease rs587777241 Polyarteritis nodosa (PAN) [MIM:615688] ADA2 Q9NZK5 VAR_071141 p.Arg169Gln Disease rs77563738 Polyarteritis nodosa (PAN) [MIM:615688] ADA2 Q9NZK5 VAR_071142 p.Pro251Leu Disease rs148936893 Polyarteritis nodosa (PAN) [MIM:615688] ADA2 Q9NZK5 VAR_071143 p.Trp264Ser Disease rs587777242 Polyarteritis nodosa (PAN) [MIM:615688] ADA2 Q9NZK5 VAR_071144 p.Tyr453Cys Disease rs376785840 Polyarteritis nodosa (PAN) [MIM:615688] ADA2 Q9NZK5 VAR_072562 p.Val119Ala Disease - Sneddon syndrome (SNDDS) [MIM:182410] ADA2 Q9NZK5 VAR_072563 p.Gly142Ser Disease - Sneddon syndrome (SNDDS) [MIM:182410] ADAD2 Q8NCV1 VAR_036976 p.Gly44Glu Polymorphism rs8044695 - ADAD2 Q8NCV1 VAR_055650 p.Gly235Arg Polymorphism rs11149631 - ADAM10 O14672 VAR_066309 p.His176Tyr Unclassified rs267604273 A cutaneous metastatic melanoma sample ADAM10 O14672 VAR_070907 p.Pro139Ser Disease rs483352912 Reticulate acropigmentation of Kitamura (RAK) [MIM:615537] ADAM10 O14672 VAR_070908 p.Gln170His Disease rs61751103 Alzheimer disease 18 (AD18) [MIM:615590] ADAM10 O14672 VAR_070909 p.Arg181Gly Disease rs145518263 Alzheimer disease 18 (AD18) [MIM:615590] ADAM10 O14672 VAR_070910 p.Cys524Tyr Disease rs483352916 Reticulate acropigmentation of Kitamura (RAK) [MIM:615537] 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 rs1459457663A 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 rs151030407 A cutaneous metastatic melanoma sample 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 rs267601916 A cutaneous metastatic melanoma sample ADAM18 Q9Y3Q7 VAR_066313 p.Val284Gly Unclassified - A cutaneous metastatic melanoma sample ADAM18 Q9Y3Q7 VAR_066314 p.Met344Ile Unclassified rs267601918 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 rs200894535 A colorectal cancer sample ADAM19 Q9H013 VAR_036147 p.Ala298Thr Unclassified rs1178207005A 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 - ADAM22 Q9P0K1 VAR_080496 p.Cys401Tyr Unclassified rs747259064 Epileptic encephalopathy, early infantile, 61 (EIEE61) [MIM:617933] 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 rs267601860 A cutaneous metastatic melanoma sample ADAM28 Q9UKQ2 VAR_066319 p.Gly450Glu Unclassified rs267601862 A cutaneous metastatic melanoma sample ADAM28 Q9UKQ2 VAR_066320 p.Ser482Phe Unclassified - A cutaneous metastatic melanoma sample ADAM28 Q9UKQ2 VAR_066321 p.Gly502Asp Unclassified rs267601864 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_036148 p.Pro31Leu Unclassified rs544557652 A colorectal cancer sample ADAM29 Q9UKF5 VAR_036149 p.Val205Ile Unclassified rs772388824 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 rs267600087 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 rs899870236 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066329 p.Ser234Phe Unclassified rs866380131 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066330 p.Ile257Phe Unclassified rs140083180 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066331 p.Gly305Glu Unclassified rs267600089 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066332 p.Asp345Asn Unclassified rs267600090 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066333 p.Gly403Asp Unclassified rs150047888 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066334 p.Gly434Asp Unclassified rs267600091 A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066335 p.Glu503Lys Unclassified - A cutaneous metastatic melanoma sample ADAM29 Q9UKF5 VAR_066336 p.His533Tyr Unclassified rs267600093 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 rs1169229302A 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 rs150319320 A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066297 p.Arg31Cys Unclassified rs137990671 A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066298 p.Pro36Ser Unclassified rs267601866 A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066299 p.His106Tyr Unclassified rs267601867 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 rs267601868 A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066305 p.Gly533Glu Unclassified rs867202281 A cutaneous metastatic melanoma sample ADAM7 Q9H2U9 VAR_066306 p.Phe593Leu Unclassified - - ADAM7 Q9H2U9 VAR_066307 p.Glu639Lys Unclassified rs1034941983A 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 rs281875302 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 rs281875287 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 rs281875304 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 rs281875306 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 rs281875305 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 rs281875307 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 rs281875301 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 Polymorphism rs782383410 - ADAMTS13 Q76LX8 VAR_027136 p.Arg1123Cys Disease rs281875340 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 rs281875303 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_027139 p.Arg1336Trp Disease rs281875308 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 rs281875297 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067771 p.Ser119Phe Disease rs281875291 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067772 p.Ile178Thr Disease rs281875289 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067773 p.Ser203Pro Disease rs281875298 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067774 p.Leu232Gln Disease rs281875292 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067775 p.Asp235His Disease rs281875337 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067776 p.Ser263Cys Disease rs281875293 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067777 p.Tyr304Cys Disease rs281875285 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067778 p.Cys311Tyr Disease rs281875336 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067779 p.Thr339Arg Polymorphism rs149517360 - ADAMTS13 Q76LX8 VAR_067780 p.Cys347Ser Disease rs281875294 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067781 p.Arg349Cys Disease rs281875288 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067782 p.Pro353Leu Disease rs281875338 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067783 p.Arg507Gln Disease rs281875296 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067784 p.Gly525Asp Disease rs281875286 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067785 p.Ala596Val Disease rs281875299 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067786 p.Ala606Pro Disease rs281875290 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067787 p.Tyr658Cys Disease rs281875335 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067788 p.Pro671Leu Disease rs281875295 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067789 p.Cys758Arg Disease rs281875300 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067790 p.Cys908Ser Disease rs281875301 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 rs281875339 Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150] ADAMTS13 Q76LX8 VAR_067794 p.Ser1314Leu Polymorphism rs142060916 - 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 rs776537988 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 rs368783738 A colorectal cancer sample ADAMTS18 Q8TE60 VAR_036153 p.Lys455Thr Unclassified rs776584074 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 Polymorphism rs387906972 - ADAMTS18 Q8TE60 VAR_070849 p.Leu202Pro Disease rs397515468 Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458] ADAMTS18 Q8TE60 VAR_070850 p.Cys577Trp Disease rs148319220 Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458] 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 rs113994122 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_054875 p.Glu114Lys Disease rs113994123 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_054876 p.Pro147Leu Disease rs113994121 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_054877 p.Gly811Arg Disease rs113994124 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066543 p.Trp50Cys Disease rs1395219766Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066544 p.Arg72Gln Disease rs387907064 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066545 p.Arg159Trp Disease rs776178041 Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050] ADAMTSL2 Q86TH1 VAR_066546 p.Ala165Thr Disease rs764516811 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 rs387907065 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 rs969732840 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 rs1439091253A colorectal cancer sample ADAMTSL3 P82987 VAR_035810 p.Arg587His Unclassified rs142860011 A colorectal cancer sample ADAMTSL3 P82987 VAR_035811 p.Arg855Cys Unclassified rs146769560 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 rs73598374 - 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 rs121908714 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 rs121908717 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 rs121908714 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 rs199422327 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] ADA P00813 VAR_076954 p.Tyr97Cys Unclassified rs267606634 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_076955 p.Leu106Val Unclassified rs267606635 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 - ADARB1 P78563 VAR_070931 p.Val224Ala Polymorphism rs199697177 - 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 rs138734198 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 symmetrica hereditaria (DSH) [MIM:127400] ADAR P55265 VAR_017605 p.Phe1165Ser Disease rs28936681 Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] ADAR P55265 VAR_021729 p.Cys966Phe Disease - Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] ADAR P55265 VAR_024407 p.Tyr587Cys Polymorphism rs17843865 - ADAR P55265 VAR_026669 p.Arg1155Trp Disease rs1044845711Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] ADAR P55265 VAR_035805 p.Glu806Val Unclassified rs144119808 A breast cancer sample ADAR P55265 VAR_048725 p.Arg100Gly Polymorphism rs1466731 - ADAR P55265 VAR_069535 p.Pro193Ala Disease rs145588689 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069536 p.Ala870Thr Disease rs398122893 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069537 p.Ile872Thr Disease rs398122897 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069538 p.Arg892His Disease rs398122892 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069539 p.Lys999Asn Disease rs398122896 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069540 p.Gly1007Arg Disease rs398122822 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069541 p.Tyr1112Phe Disease rs398122895 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR P55265 VAR_069542 p.Asp1113His Disease rs398122894 Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] 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 ADAT3 Q96EY9 VAR_069778 p.Val128Met Disease - Mental retardation, autosomal recessive 36 (MRT36) [MIM:615286] 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 rs3748092 - ADCK2 Q7Z695 VAR_041419 p.Pro626Leu Polymorphism rs55922126 - ADCK2 Q7Z695 VAR_060990 p.Ser66Gly Polymorphism rs2968558 - ADCK5 Q3MIX3 VAR_029996 p.Ser17Arg Polymorphism rs6599528 - 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 - ADCY3 O60266 VAR_080791 p.Asn64Ile Polymorphism rs541941351 - ADCY5 O95622 VAR_068821 p.Ala726Thr Disease rs796065306 Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703] ADCY5 O95622 VAR_073778 p.Arg418Trp Disease rs864309483 Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703] ADCY6 O43306 VAR_048249 p.Ala674Ser Polymorphism rs3730071 - ADCY6 O43306 VAR_073434 p.Arg1116Cys Disease rs786204798 Lethal congenital contracture syndrome 8 (LCCS8) [MIM:616287] 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 - ADCY9 O60503 VAR_070887 p.Asn1154Ser Polymorphism rs61731445 - 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 - ADD3 Q9UEY8 VAR_076996 p.Gly367Asp Disease rs564185858 Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:617008] ADGB Q8N7X0 VAR_025948 p.Ile310Thr Polymorphism rs9497606 - ADGB Q8N7X0 VAR_063158 p.Thr1637Ala Polymorphism rs1052445 - ADGRA1 Q86SQ6 VAR_055931 p.Ala183Ser Polymorphism rs34915504 - ADGRA1 Q86SQ6 VAR_055932 p.Gln214Leu Polymorphism rs34679676 - ADGRA2 Q96PE1 VAR_072079 p.Pro29Leu Unclassified - - ADGRA2 Q96PE1 VAR_072561 p.Thr375Lys Polymorphism - - ADGRA3 Q8IWK6 VAR_033971 p.Val1043Met Polymorphism rs9002 - ADGRA3 Q8IWK6 VAR_033972 p.Val1166Gly Polymorphism rs3814416 - ADGRB2 O60241 VAR_079840 p.Arg1465Trp Disease rs778361520 - ADGRB3 O60242 VAR_046525 p.Asn503Ser Polymorphism rs1932618 - ADGRD1 Q6QNK2 VAR_049461 p.Val508Met Polymorphism rs11833801 - ADGRD1 Q6QNK2 VAR_049462 p.Ser523Leu Polymorphism rs11061318 - ADGRD1 Q6QNK2 VAR_077698 p.Tyr18Cys Polymorphism rs149181066 - ADGRD1 Q6QNK2 VAR_077699 p.Tyr18His Polymorphism rs146611221 - ADGRD1 Q6QNK2 VAR_077700 p.Asp32Asn Polymorphism rs376178471 - ADGRD1 Q6QNK2 VAR_077701 p.Glu78Lys Polymorphism rs267603378 - ADGRD1 Q6QNK2 VAR_077702 p.Thr82Met Polymorphism rs143395855 - ADGRD1 Q6QNK2 VAR_077703 p.Tyr85Cys Polymorphism rs199848650 - ADGRD1 Q6QNK2 VAR_077704 p.Tyr89Asp Polymorphism rs201546462 - ADGRD1 Q6QNK2 VAR_077705 p.Phe110Leu Polymorphism rs148928637 - ADGRD1 Q6QNK2 VAR_077706 p.Ser138Phe Polymorphism rs199526762 - ADGRD1 Q6QNK2 VAR_077707 p.Gly140Ser Polymorphism rs374985420 - ADGRD1 Q6QNK2 VAR_077708 p.Gly141Asp Polymorphism rs142759046 - ADGRD1 Q6QNK2 VAR_077709 p.Val145Leu Polymorphism rs146945782 - ADGRD1 Q6QNK2 VAR_077710 p.Arg150Trp Polymorphism rs144030317 - ADGRD1 Q6QNK2 VAR_077711 p.Trp174Ser Polymorphism rs141606054 - ADGRD1 Q6QNK2 VAR_077712 p.Glu178Lys Polymorphism rs148148477 - ADGRD1 Q6QNK2 VAR_077713 p.Val184Ile Polymorphism rs61732860 - ADGRD1 Q6QNK2 VAR_077714 p.Gly195Arg Polymorphism rs267603379 - ADGRD1 Q6QNK2 VAR_077715 p.Arg199Cys Polymorphism rs146310036 - ADGRD1 Q6QNK2 VAR_077716 p.Arg199His Polymorphism rs375084180 - ADGRD1 Q6QNK2 VAR_077717 p.Glu203Asp Polymorphism rs201045213 - ADGRD1 Q6QNK2 VAR_077718 p.Val209Met Polymorphism rs139478688 - ADGRD1 Q6QNK2 VAR_077719 p.Asp226Asn Polymorphism rs377562590 - ADGRD1 Q6QNK2 VAR_077720 p.Arg233Trp Polymorphism rs370807516 - ADGRD1 Q6QNK2 VAR_077721 p.Ala241Thr Polymorphism rs368468703 - ADGRD1 Q6QNK2 VAR_077722 p.Met242Thr Polymorphism rs201057341 - ADGRD1 Q6QNK2 VAR_077723 p.Thr245Ile Polymorphism rs201053759 - ADGRD1 Q6QNK2 VAR_077724 p.Thr257Ala Polymorphism rs146563785 - ADGRD1 Q6QNK2 VAR_077725 p.Pro259Gln Polymorphism rs75096240 - ADGRD1 Q6QNK2 VAR_077726 p.Ser265Tyr Polymorphism rs137909892 - ADGRD1 Q6QNK2 VAR_077727 p.Ser268Asn Polymorphism rs149012578 - ADGRD1 Q6QNK2 VAR_077728 p.Val270Ala Polymorphism rs147773154 - ADGRD1 Q6QNK2 VAR_077729 p.Val270Met Polymorphism rs147105264 - ADGRD1 Q6QNK2 VAR_077730 p.Pro293Ala Polymorphism rs146929634 - ADGRD1 Q6QNK2 VAR_077731 p.Gly294Arg Polymorphism rs148017957 - ADGRD1 Q6QNK2 VAR_077732 p.Pro308Ser Polymorphism rs201661954 - ADGRD1 Q6QNK2 VAR_077733 p.Leu318Phe Polymorphism rs200641036 - ADGRD1 Q6QNK2 VAR_077734 p.Ser349Asn Polymorphism rs370854685 - ADGRD1 Q6QNK2 VAR_077735 p.Asn364Ser Polymorphism rs146050435 - ADGRD1 Q6QNK2 VAR_077736 p.Thr369Met Polymorphism rs142314859 - ADGRD1 Q6QNK2 VAR_077737 p.Phe383Ser Polymorphism rs200232576 - ADGRD1 Q6QNK2 VAR_077738 p.Val393Met Polymorphism rs374606811 - ADGRD1 Q6QNK2 VAR_077739 p.His397Gln Polymorphism rs201985264 - ADGRD1 Q6QNK2 VAR_077740 p.Arg399Cys Polymorphism rs150882180 - ADGRD1 Q6QNK2 VAR_077741 p.Gly404Ala Polymorphism rs371536090 - ADGRD1 Q6QNK2 VAR_077742 p.Gln405Pro Polymorphism rs145663007 - ADGRD1 Q6QNK2 VAR_077743 p.Ile410Val Polymorphism rs376489706 - ADGRD1 Q6QNK2 VAR_077744 p.Pro411Ser Polymorphism rs147757048 - ADGRD1 Q6QNK2 VAR_077745 p.Glu413Lys Polymorphism rs142628291 - ADGRD1 Q6QNK2 VAR_077746 p.Ala419Val Polymorphism rs370959644 - ADGRD1 Q6QNK2 VAR_077747 p.Gly425Ser Polymorphism rs374575404 - ADGRD1 Q6QNK2 VAR_077748 p.Ala441Thr Polymorphism rs375271891 - ADGRD1 Q6QNK2 VAR_077749 p.Ala448Asp Polymorphism rs200173874 - ADGRD1 Q6QNK2 VAR_077750 p.His450Arg Polymorphism rs200060202 - ADGRD1 Q6QNK2 VAR_077751 p.Asp453Asn Polymorphism rs149065791 - ADGRD1 Q6QNK2 VAR_077752 p.Cys454Tyr Polymorphism rs143062748 - ADGRD1 Q6QNK2 VAR_077753 p.Ala458Thr Polymorphism rs140426880 - ADGRD1 Q6QNK2 VAR_077754 p.Ser464Ala Polymorphism rs78638447 - ADGRD1 Q6QNK2 VAR_077755 p.Asn476Ser Polymorphism rs138163855 - ADGRD1 Q6QNK2 VAR_077756 p.Ser478Leu Polymorphism rs372643228 - ADGRD1 Q6QNK2 VAR_077757 p.Thr484Met Polymorphism rs149266247 - ADGRD1 Q6QNK2 VAR_077758 p.Val485Ile Polymorphism rs369012277 - ADGRD1 Q6QNK2 VAR_077759 p.Glu498Gly Polymorphism rs200576124 - ADGRD1 Q6QNK2 VAR_077760 p.Ala499Ser Polymorphism rs150620459 - ADGRD1 Q6QNK2 VAR_077761 p.Asn524Lys Polymorphism rs370443698 - ADGRD1 Q6QNK2 VAR_077762 p.Val538Ala Polymorphism rs201849687 - ADGRD1 Q6QNK2 VAR_077763 p.Val538Ile Polymorphism rs200971352 - ADGRD1 Q6QNK2 VAR_077764 p.Arg540Cys Polymorphism rs147294464 - ADGRD1 Q6QNK2 VAR_077765 p.Arg540His Polymorphism rs145630930 - ADGRD1 Q6QNK2 VAR_077766 p.Arg560Cys Polymorphism rs371989819 - ADGRD1 Q6QNK2 VAR_077767 p.Arg560His Polymorphism rs375179921 - ADGRD1 Q6QNK2 VAR_077768 p.Ser567Leu Polymorphism rs192515185 - ADGRD1 Q6QNK2 VAR_077769 p.Ile569Val Polymorphism rs139017446 - ADGRD1 Q6QNK2 VAR_077770 p.Ala589Thr Polymorphism rs201161291 - ADGRD1 Q6QNK2 VAR_077771 p.Val594Met Polymorphism rs189007948 - ADGRD1 Q6QNK2 VAR_077772 p.Arg601His Polymorphism rs201524753 - ADGRD1 Q6QNK2 VAR_077773 p.Leu608Met Polymorphism rs200052797 - ADGRD1 Q6QNK2 VAR_077774 p.Arg624Cys Polymorphism rs117457351 - ADGRD1 Q6QNK2 VAR_077775 p.Glu626Lys Polymorphism rs199778477 - ADGRD1 Q6QNK2 VAR_077776 p.Thr630Ile Polymorphism rs145482553 - ADGRD1 Q6QNK2 VAR_077777 p.Ser667Leu Polymorphism rs377401276 - ADGRD1 Q6QNK2 VAR_077778 p.Arg673His Polymorphism rs141128784 - ADGRD1 Q6QNK2 VAR_077779 p.Met695Thr Polymorphism rs143163307 - ADGRD1 Q6QNK2 VAR_077780 p.Gly699Val Polymorphism - - ADGRD1 Q6QNK2 VAR_077781 p.Ala720Val Polymorphism rs141439159 - ADGRD1 Q6QNK2 VAR_077782 p.Ala743Thr Polymorphism rs143902981 - ADGRD1 Q6QNK2 VAR_077783 p.His749Arg Polymorphism rs372207677 - ADGRD1 Q6QNK2 VAR_077784 p.Asp751Glu Polymorphism rs147763331 - ADGRD1 Q6QNK2 VAR_077785 p.Ala761Glu Polymorphism rs369201469 - ADGRD1 Q6QNK2 VAR_077786 p.Val764Met Polymorphism rs149434203 - ADGRD1 Q6QNK2 VAR_077787 p.Val777Met Polymorphism rs144814859 - ADGRD1 Q6QNK2 VAR_077788 p.Ala779Val Polymorphism rs61746588 - ADGRD1 Q6QNK2 VAR_077789 p.Thr793Met Polymorphism rs375488636 - ADGRD1 Q6QNK2 VAR_077790 p.Asn795Lys Polymorphism rs369853823 - ADGRD1 Q6QNK2 VAR_077791 p.Ala816Thr Polymorphism rs368828722 - ADGRD1 Q6QNK2 VAR_077792 p.Thr827Met Polymorphism rs371135988 - ADGRD1 Q6QNK2 VAR_077793 p.Ala831Thr Polymorphism rs146661482 - ADGRD1 Q6QNK2 VAR_077794 p.Ala836Thr Polymorphism rs144023497 - ADGRD1 Q6QNK2 VAR_077795 p.Ala836Val Polymorphism rs367789023 - ADGRD1 Q6QNK2 VAR_077796 p.Met851Thr Polymorphism rs78058857 - ADGRD1 Q6QNK2 VAR_077797 p.Arg868His Polymorphism rs61740366 - ADGRD1 Q6QNK2 VAR_077798 p.Val869Ile Polymorphism rs377434309 - ADGRD1 Q6QNK2 VAR_077799 p.Asp870Asn Polymorphism rs143670024 - ADGRD1 Q6QNK2 VAR_077800 p.Val874Met Polymorphism rs148442158 - ADGRE1 Q14246 VAR_027616 p.Ala57Thr Polymorphism rs330877 - ADGRE1 Q14246 VAR_027617 p.Ser140Arg Polymorphism rs330880 - ADGRE1 Q14246 VAR_027618 p.Asp174Asn Polymorphism rs897738 - ADGRE1 Q14246 VAR_027619 p.Asn254Ser Polymorphism rs443658 - ADGRE1 Q14246 VAR_027620 p.Ala298Val Polymorphism rs370094 - ADGRE1 Q14246 VAR_027621 p.Thr389Met Polymorphism rs466876 - ADGRE1 Q14246 VAR_027622 p.Ile424Val Polymorphism rs457857 - ADGRE1 Q14246 VAR_027623 p.Lys496Gln Polymorphism rs373533 - ADGRE1 Q14246 VAR_027624 p.Ile539Val Polymorphism rs461645 - ADGRE1 Q14246 VAR_027625 p.Val589Ile Polymorphism rs7256147 - ADGRE1 Q14246 VAR_027626 p.Phe691Cys Polymorphism rs2229769 - ADGRE1 Q14246 VAR_027627 p.Val724Leu Polymorphism rs10406580 - ADGRE1 Q14246 VAR_046976 p.Arg2Leu Polymorphism rs34176643 - ADGRE1 Q14246 VAR_046977 p.Met663Thr Polymorphism rs2228539 - ADGRE2 Q9UHX3 VAR_026719 p.Thr605Ile Polymorphism rs4410209 - ADGRE2 Q9UHX3 VAR_026720 p.Leu614Phe Polymorphism rs2524383 - ADGRE2 Q9UHX3 VAR_026721 p.Ser665Phe Polymorphism rs3752187 - ADGRE2 Q9UHX3 VAR_061229 p.Ala314Val Polymorphism rs35612307 - ADGRE2 Q9UHX3 VAR_061230 p.Glu720Asp Polymorphism rs57865820 - ADGRE2 Q9UHX3 VAR_078578 p.Cys492Tyr Disease rs199718602 Vibratory urticaria (VBU) [MIM:125630] ADGRE3 Q9BY15 VAR_024472 p.Glu127Gln Polymorphism rs4606855 - ADGRE3 Q9BY15 VAR_055926 p.Ala236Val Polymorphism rs34226397 - ADGRE3 Q9BY15 VAR_060442 p.Arg385Gln Polymorphism rs45508602 - ADGRF1 Q5T601 VAR_055928 p.Ile787Val Polymorphism rs1226475 - ADGRF2 Q8IZF7 VAR_024473 p.Gln148Arg Polymorphism rs6907125 - ADGRF2 Q8IZF7 VAR_024474 p.Ile467Val Polymorphism rs9381594 - ADGRF3 Q8IZF5 VAR_024475 p.Ala404Thr Polymorphism rs2052937 - ADGRF4 Q8IZF3 VAR_024476 p.Lys541Asn Polymorphism rs9369738 - ADGRF4 Q8IZF3 VAR_036224 p.Ser674Leu Unclassified rs572583506 A breast cancer sample ADGRF4 Q8IZF3 VAR_055930 p.Arg507Cys Polymorphism rs12110938 - ADGRF5 Q8IZF2 VAR_024477 p.Met856Thr Polymorphism rs547499 - ADGRF5 Q8IZF2 VAR_025326 p.Thr604Met Polymorphism rs586024 - ADGRF5 Q8IZF2 VAR_055291 p.Val801Ile Polymorphism rs9395218 - ADGRG1 Q9Y653 VAR_017910 p.Ser281Arg Polymorphism rs1801257 - ADGRG1 Q9Y653 VAR_017911 p.Gln306His Polymorphism rs1801255 - ADGRG1 Q9Y653 VAR_026242 p.Arg38Trp Disease rs121908462 Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_026243 p.Tyr88Cys Disease rs121908466 Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_026244 p.Cys91Ser Disease rs121908465 Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_026245 p.Cys346Ser Disease rs121908463 Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_026246 p.Arg565Trp Disease rs121908464 Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_049457 p.Met493Thr Polymorphism rs17379472 - ADGRG1 Q9Y653 VAR_049458 p.Pro527Leu Polymorphism rs16958679 - ADGRG1 Q9Y653 VAR_069581 p.Arg38Gln Disease rs764367185 Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_069582 p.Trp349Ser Disease - Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_069583 p.Glu496Lys Disease rs556518689 Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG1 Q9Y653 VAR_069584 p.Leu640Arg Disease - Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] ADGRG2 Q8IZP9 VAR_055289 p.His290Gln Polymorphism rs35974297 - ADGRG2 Q8IZP9 VAR_055290 p.Asn771Ser Polymorphism rs3924227 - ADGRG2 Q8IZP9 VAR_076259 p.Pro224Ser Polymorphism rs140334931 - ADGRG2 Q8IZP9 VAR_080773 p.Asn64Ser Unclassified rs746638813 - ADGRG3 Q86Y34 VAR_055927 p.Ala430Thr Polymorphism rs2290178 - ADGRG4 Q8IZF6 VAR_055929 p.Ile276Met Polymorphism rs4829829 - ADGRG4 Q8IZF6 VAR_059329 p.Pro368His Polymorphism rs5930931 - ADGRG4 Q8IZF6 VAR_059330 p.Thr1213Asn Polymorphism rs4829830 - ADGRG4 Q8IZF6 VAR_059331 p.Ser1540Pro Polymorphism rs912002 - ADGRG4 Q8IZF6 VAR_059332 p.Phe1791Leu Polymorphism rs5930932 - ADGRG6 Q86SQ4 VAR_024478 p.Lys230Gln Polymorphism rs11155242 - ADGRG6 Q86SQ4 VAR_054128 p.Ser123Gly Polymorphism rs17280293 - ADGRG6 Q86SQ4 VAR_054129 p.Gln1127Arg Polymorphism rs1262686 - ADGRG6 Q86SQ4 VAR_075146 p.Val741Glu Disease - Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503] ADGRG6 Q86SQ4 VAR_075147 p.Val769Glu Disease rs793888525 Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503] ADGRG6 Q86SQ4 VAR_076965 p.Arg1057Gln Polymorphism rs536714306 - ADGRG7 Q96K78 VAR_049459 p.Thr645Ser Polymorphism rs16842529 - ADGRG7 Q96K78 VAR_049460 p.Arg756His Polymorphism rs9872512 - ADGRG7 Q96K78 VAR_055138 p.Lys151Glu Polymorphism rs1144122 - ADGRL1 O94910 VAR_049463 p.Glu595Gln Polymorphism rs34759320 - ADGRL2 O95490 VAR_077836 p.Arg467Thr Unclassified - - ADGRL3 Q9HAR2 VAR_055934 p.Arg465Gln Polymorphism rs35106420 - ADGRL3 Q9HAR2 VAR_064477 p.Ala247Ser Polymorphism - - ADGRL3 Q9HAR2 VAR_064478 p.Thr770Met Polymorphism - - ADGRL3 Q9HAR2 VAR_064479 p.Leu915Val Polymorphism - - ADGRL4 Q9HBW9 VAR_047072 p.Val300Leu Polymorphism rs12754818 - ADGRL4 Q9HBW9 VAR_047073 p.His599Gln Polymorphism rs1968956 - ADGRL4 Q9HBW9 VAR_047074 p.Ala620Gly Polymorphism rs2275902 - ADGRV1 Q8WXG9 VAR_025995 p.Leu127Arg Polymorphism rs41311333 - ADGRV1 Q8WXG9 VAR_025996 p.Arg249Lys Polymorphism rs41303344 - ADGRV1 Q8WXG9 VAR_025997 p.Leu1093Phe Polymorphism rs2366777 - ADGRV1 Q8WXG9 VAR_025998 p.Thr1927Met Polymorphism rs17544552 - ADGRV1 Q8WXG9 VAR_025999 p.Val1951Ile Polymorphism rs4916684 - ADGRV1 Q8WXG9 VAR_026000 p.Asn1985Asp Polymorphism rs41303352 - ADGRV1 Q8WXG9 VAR_026001 p.Pro1987Leu Polymorphism rs4916685 - ADGRV1 Q8WXG9 VAR_026002 p.Leu2004Phe Polymorphism rs16868972 - ADGRV1 Q8WXG9 VAR_026003 p.Tyr2232Cys Polymorphism rs10037067 - ADGRV1 Q8WXG9 VAR_026004 p.Asn2345Ser Polymorphism rs2366926 - ADGRV1 Q8WXG9 VAR_026005 p.Gly2379Ala Polymorphism - - ADGRV1 Q8WXG9 VAR_026006 p.Asn2584Ser Polymorphism rs1878878 - ADGRV1 Q8WXG9 VAR_026007 p.Ser2764Leu Polymorphism rs16869016 - ADGRV1 Q8WXG9 VAR_026008 p.Ala2803Thr Polymorphism rs111033530 - ADGRV1 Q8WXG9 VAR_026009 p.Ala3217Val Polymorphism rs114137750 - ADGRV1 Q8WXG9 VAR_026010 p.Gly3248Asp Polymorphism rs16869032 - ADGRV1 Q8WXG9 VAR_026011 p.Glu3471Lys Polymorphism rs2366928 - ADGRV1 Q8WXG9 VAR_026012 p.Glu5344Gly Polymorphism rs2438374 - ADGRV1 Q8WXG9 VAR_026013 p.Thr5437Ala Polymorphism rs770471921 - ADGRV1 Q8WXG9 VAR_046346 p.Val551Ala Polymorphism rs6889939 - ADGRV1 Q8WXG9 VAR_046347 p.Ile1187Val Polymorphism rs16868935 - ADGRV1 Q8WXG9 VAR_046348 p.Thr1916Ile Polymorphism rs35791889 - ADGRV1 Q8WXG9 VAR_046349 p.Arg2097Cys Polymorphism rs16868974 - ADGRV1 Q8WXG9 VAR_046350 p.Val3094Ile Polymorphism rs13157270 - ADGRV1 Q8WXG9 VAR_046351 p.Phe3347Leu Polymorphism rs10067636 - ADGRV1 Q8WXG9 VAR_046352 p.Glu3867Ala Polymorphism rs16869088 - ADGRV1 Q8WXG9 VAR_055933 p.Glu3868Ala Polymorphism rs16869088 - ADGRV1 Q8WXG9 VAR_068032 p.Arg4789Trp Disease rs1131691924Usher syndrome 2C (USH2C) [MIM:605472] ADGRV1 Q8WXG9 VAR_068033 p.His5978Arg Disease rs756460900 Usher syndrome 2C (USH2C) [MIM:605472] 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 rs34195308 - 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 Polymorphism rs199646033 - ADIPOQ Q15848 VAR_013274 p.Arg112Cys Disease rs121917815 Adiponectin deficiency (ADPND) [MIM:612556] ADIPOQ Q15848 VAR_013275 p.Val117Met Polymorphism rs747223144 - ADIPOQ Q15848 VAR_013276 p.Ile164Thr Polymorphism rs185847354 - ADIPOQ Q15848 VAR_013277 p.Arg221Ser Polymorphism rs138773406 - ADIPOQ Q15848 VAR_013278 p.His241Pro Polymorphism rs141205818 - ADIPOQ Q15848 VAR_027395 p.Gly90Ser Polymorphism rs62625753 - ADIPOQ Q15848 VAR_027396 p.Tyr111His Polymorphism rs17366743 - ADIPOR2 Q86V24 VAR_048203 p.Gln39Arg Polymorphism rs12298275 - ADK P55263 VAR_066640 p.Gly30Glu Disease rs397514454 Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300] ADK P55263 VAR_066641 p.Asp235Ala Disease rs397514453 Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300] ADK P55263 VAR_066642 p.Ala318Glu Disease rs397514452 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 - ADNP Q9H2P0 VAR_078696 p.Gly1094Val Unclassified rs780706686 - 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 rs899207013 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 - ADORA1 P30542 VAR_078549 p.Gly279Ser Unclassified rs748346254 - ADORA2A P29274 VAR_003451 p.Gly392Arg Polymorphism rs1277013918- ADORA2A P29274 VAR_011835 p.Ala50Val Polymorphism rs4530 - ADORA2A P29274 VAR_011836 p.Arg300His Polymorphism rs4990 - ADORA3 P0DMS8 VAR_035755 p.Ala105Thr Unclassified rs746154553 A colorectal cancer sample ADORA3 P0DMS8 VAR_049366 p.Ile248Leu Polymorphism rs35511654 - ADORA3 P0DMS8 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 rs527655811 - ADRA2B P18089 VAR_033462 p.Val376Ile Polymorphism rs1431850417- 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 rs990810566 - 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 rs771585355 - 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 - ADSL P30566 VAR_000680 p.Ser438Pro Disease rs119450940 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007972 p.Ile72Val Disease - Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007973 p.Arg141Trp Disease rs756210458 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007974 p.Arg190Gln Disease rs28941471 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007975 p.Lys246Glu Disease rs119450944 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007976 p.Arg303Cys Disease rs373458753 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007977 p.Ser395Arg Disease - Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_007978 p.Arg426His Disease rs119450941 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_016930 p.Ala2Val Disease rs143083947 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_016931 p.Met26Leu Disease rs1311171245Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_016932 p.Thr450Ser Disease rs372895468 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017078 p.Ala3Val Disease - Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017079 p.Pro100Ala Disease rs119450942 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017080 p.Tyr114His Disease rs374259530 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017081 p.Arg194Cys Disease rs1465152683Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017082 p.Asp268Asn Disease rs746501563 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017083 p.Leu311Val Disease - Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017084 p.Pro318Leu Disease rs202064195 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017085 p.Val364Met Disease rs370851726 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017086 p.Arg374Trp Disease rs376533026 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017087 p.Arg396Cys Disease rs755492501 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017088 p.Arg396His Disease rs763542069 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017089 p.Asp422Tyr Disease rs119450943 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017090 p.Leu423Val Disease - Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017091 p.Asp430Asn Disease rs554254383 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017092 p.Ser447Pro Disease rs777821034 Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_017093 p.Arg452Pro Disease - Adenylosuccinase deficiency (ADSLD) [MIM:103050] ADSL P30566 VAR_037883 p.Ser31Asn Polymorphism rs5757921 - ADSL P30566 VAR_037884 p.Lys147Met Polymorphism rs11089991 - ADSSL1 Q8N142 VAR_076998 p.Asp261Asn Disease rs140614802 Myopathy, distal, 5 (MPD5) [MIM:617030] 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.Asn358Ser Polymorphism rs4851223 - AFF3 P51826 VAR_030806 p.Asn494Ser Polymorphism rs1047265 - AFF3 P51826 VAR_080758 p.Gly1215Val Unclassified - - AFF4 Q9UHB7 VAR_053003 p.Thr136Pro Polymorphism rs34527550 - AFF4 Q9UHB7 VAR_064693 p.Ser757Thr Unclassified - - AFF4 Q9UHB7 VAR_073790 p.Thr254Ala Disease rs786205233 CHOPS syndrome (CHOPS) [MIM:616368] AFF4 Q9UHB7 VAR_073791 p.Thr254Ser Disease rs786205679 CHOPS syndrome (CHOPS) [MIM:616368] AFF4 Q9UHB7 VAR_073792 p.Arg258Trp Disease rs786205680 CHOPS syndrome (CHOPS) [MIM:616368] AFG3L2 Q9Y4W6 VAR_063544 p.Asn432Thr Disease rs151344512 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_063545 p.Glu691Lys Disease rs151344520 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_063546 p.Ala694Glu Disease rs151344521 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_063547 p.Arg702Gln Disease rs151344523 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064402 p.Thr654Ile Disease rs151344513 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064403 p.Met666Arg Disease rs151344515 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064404 p.Met666Thr Disease rs151344515 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064405 p.Met666Val Disease rs151344514 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064406 p.Gly671Glu Disease rs151344518 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064407 p.Gly671Arg Disease rs151344517 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_064408 p.Glu700Lys Disease rs151344522 Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_067330 p.Tyr616Cys Disease rs387906889 Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487] AFG3L2 Q9Y4W6 VAR_075198 p.Tyr689His Disease - Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_075199 p.Tyr689Asn Disease - Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFG3L2 Q9Y4W6 VAR_080736 p.Leu621Val Unclassified - Spinocerebellar ataxia 28 (SCA28) [MIM:610246] AFM P43652 VAR_048218 p.Thr404Ser Polymorphism rs2276444 - AFM P43652 VAR_061003 p.Arg395His Polymorphism rs41265665 - AFP P02771 VAR_012049 p.Ala570Gly Polymorphism rs7790 - AFP P02771 VAR_033928 p.Lys187Gln Polymorphism rs35765619 - AFTPH Q6ULP2 VAR_056728 p.Asp233Gly Polymorphism rs35986567 - AFTPH Q6ULP2 VAR_056729 p.Glu301Lys Polymorphism rs3770740 - AFTPH Q6ULP2 VAR_056730 p.Asn550Ser Polymorphism rs3770739 - 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 Polymorphism rs762355360 - AGAP1 Q9UPQ3 VAR_026450 p.Pro854Thr Polymorphism rs368301945 - AGA P20933 VAR_005069 p.Gly60Asp Disease rs121964907 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005070 p.Ser72Pro Disease rs121964909 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005071 p.Ala101Val Disease rs121964908 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005072 p.Arg161Gln Disease rs192195150 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005073 p.Cys163Ser Disease rs121964904 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005074 p.Gly302Arg Disease rs121964905 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_005075 p.Cys306Arg Disease rs121964906 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015427 p.Val12Leu Unclassified rs74626221 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015428 p.Gly100Glu Disease rs386833421 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015429 p.Phe135Ser Disease rs386833427 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015430 p.Gly252Glu Disease rs386833433 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015431 p.Gly252Arg Disease rs386833432 Aspartylglucosaminuria (AGU) [MIM:208400] AGA P20933 VAR_015432 p.Thr257Ile Disease rs386833434 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 - AGBL1 Q96MI9 VAR_048604 p.Pro417Leu Polymorphism rs8029810 - AGBL1 Q96MI9 VAR_048605 p.Ser435Pro Polymorphism rs11857527 - AGBL1 Q96MI9 VAR_059195 p.Gln1010Arg Polymorphism rs8028043 - AGBL1 Q96MI9 VAR_070225 p.Cys990Ser Disease rs181958589 Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523] 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 - AGBL5 Q8NDL9 VAR_077018 p.Arg276Trp Disease rs879253769 Retinitis pigmentosa 75 (RP75) [MIM:617023] AGBL5 Q8NDL9 VAR_077019 p.Asp295Asn Disease rs879253768 Retinitis pigmentosa 75 (RP75) [MIM:617023] AGBL5 Q8NDL9 VAR_079522 p.Pro108Arg Unclassified - Retinitis pigmentosa 75 (RP75) [MIM:617023] AGBL5 Q8NDL9 VAR_079523 p.Val251Gly Unclassified - Retinitis pigmentosa 75 (RP75) [MIM:617023] AGBL5 Q8NDL9 VAR_079524 p.Arg281Cys Unclassified rs780394281 Retinitis pigmentosa 75 (RP75) [MIM:617023] 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 rs118203964 Glycogen storage disease 3 (GSD3) [MIM:232400] AGL P35573 VAR_009621 p.Arg387Gln Polymorphism rs17121464 - AGL P35573 VAR_009622 p.Glu1343Lys Polymorphism rs112795811 - 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 - AGO1 Q9UL18 VAR_078651 p.Gly199Ser Disease - - AGPAT1 Q99943 VAR_050593 p.Pro30Ser Polymorphism rs11964847 - AGPAT2 O15120 VAR_017325 p.Ala239Val Disease rs145975461 Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594] AGPAT2 O15120 VAR_017327 p.Leu228Pro Disease rs104894100 Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594] AGPAT2 O15120 VAR_017328 p.Gly136Arg Disease rs797045222 Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594] AGPAT5 Q9NUQ2 VAR_022696 p.Tyr77Cys Polymorphism rs17077958 - AGPS O00116 VAR_005002 p.Arg419His Disease rs121434411 Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] AGPS O00116 VAR_025895 p.Thr309Ile Disease rs121434412 Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] AGPS O00116 VAR_025896 p.Leu469Pro Disease rs121434413 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 rs387907214 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 Disease - Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120] AGRN O00468 VAR_068727 p.Thr267Met Polymorphism - - AGRN O00468 VAR_068728 p.Ala375Ser Polymorphism rs138031468 - AGRN O00468 VAR_068729 p.Glu728Val Polymorphism rs113288277 - AGRN O00468 VAR_068730 p.Gln852Arg Polymorphism rs9697293 - AGRN O00468 VAR_068731 p.Val984Met Polymorphism - - AGRN O00468 VAR_068732 p.Leu1088Phe Polymorphism rs150132566 - AGRN O00468 VAR_068733 p.Thr1118Lys Polymorphism rs149159118 - AGRN O00468 VAR_068734 p.Gln1135Arg Polymorphism rs142416636 - AGRN O00468 VAR_068735 p.Pro1240Leu Polymorphism rs142620337 - AGRN O00468 VAR_068736 p.Gly1341Arg Polymorphism - - AGRN O00468 VAR_068737 p.Pro1451Leu Polymorphism - - AGRN O00468 VAR_068738 p.Ala1514Thr Polymorphism rs111818381 - AGRN O00468 VAR_068739 p.Gln1565His Polymorphism rs199876002 - AGRN O00468 VAR_068740 p.Arg1671Gln Polymorphism - - AGRN O00468 VAR_068741 p.Arg1698Pro Polymorphism - - AGRN O00468 VAR_068742 p.Gly1709Arg Disease - Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120] AGRN O00468 VAR_068743 p.Arg1734His Polymorphism rs145444272 - AGRN O00468 VAR_068744 p.Asp1789Asn Polymorphism - - AGRN O00468 VAR_068745 p.Gly2046Val Polymorphism - - AGRN O00468 VAR_069066 p.Val1727Phe Disease - Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120] AGRN O00468 VAR_071367 p.Gly76Ser Disease - Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120] AGRN O00468 VAR_071368 p.Ala745Val Polymorphism - - AGRN O00468 VAR_071369 p.Gly1875Arg Disease - Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120] AGRP O00253 VAR_015385 p.Ala67Thr Polymorphism rs5030980 - AGT P01019 VAR_007093 p.Thr207Met Polymorphism rs4762 - AGT P01019 VAR_007094 p.Thr242Ile Polymorphism rs765678426 - 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 rs74315283 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_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 rs104893677 Renal tubular dysgenesis (RTD) [MIM:267430] AGTR1 P30556 VAR_070375 p.Leu222Val Polymorphism rs17852013 - AGTR1 P30556 VAR_070376 p.Pro341His Polymorphism rs17852012 - 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 Unclassified rs121917810 - AGTR2 P50052 VAR_065947 p.Arg324Gln Unclassified rs35474657 - AGTR2 P50052 VAR_065948 p.Ile337Val Unclassified rs121917811 - AGTRAP Q6RW13 VAR_023075 p.Ala143Val Polymorphism rs17875960 - 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 rs121908523 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_000589 p.Phe152Ile Disease rs121908524 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_000590 p.Gly170Arg Disease rs121908529 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_000591 p.Ser187Phe Disease rs180177238 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_000592 p.Ser205Pro Disease rs121908520 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_000593 p.Ile340Met Polymorphism rs4426527 - AGXT P21549 VAR_008878 p.Gly82Glu Disease rs121908522 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_008879 p.Arg233Cys Disease rs121908526 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_008880 p.Arg233His Disease rs121908527 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_008881 p.Ile244Thr Disease rs121908525 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_010969 p.Gly41Val Disease rs180177168 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_010971 p.Gly116Arg Disease rs180177207 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_010972 p.Gly156Arg Disease rs121908530 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_010973 p.Asp183Asn Disease rs180177236 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 Polymorphism rs115014558 - AGXT P21549 VAR_060548 p.Gly82Arg Disease rs180177185 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060549 p.Trp108Arg Disease rs180177197 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060550 p.Ala112Asp Disease rs796052061 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060552 p.Leu153Val Disease rs180177223 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060553 p.Ser158Leu Disease rs180177225 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060554 p.Gly161Arg Disease rs180177227 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060555 p.Cys173Tyr Disease rs180177231 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060556 p.Gly190Arg Disease rs180177239 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060557 p.Met195Arg Disease rs180177244 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060558 p.Asp201Glu Disease rs180177246 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060559 p.Ser218Leu Disease rs180177253 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060560 p.Arg233Leu Disease rs121908527 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060561 p.Asp243His Disease rs180177258 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060562 p.Cys253Arg Disease rs180177264 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060563 p.Ile279Met Disease rs180177277 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060564 p.Ile279Thr Polymorphism rs140992177 - AGXT P21549 VAR_060565 p.Ala280Val Polymorphism rs73106685 - AGXT P21549 VAR_060566 p.Ser287Thr Disease rs180177289 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060567 p.Arg289Cys Disease rs180177290 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060569 p.Leu298Pro Disease rs180177293 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060570 p.Val326Ile Polymorphism rs115057148 - AGXT P21549 VAR_060571 p.Val336Asp Disease rs180177155 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_060572 p.Gly350Asp Disease rs180177156 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074582 p.Arg36Cys Disease rs180177157 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074583 p.Gly41Glu Disease rs180177168 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074584 p.Gly47Arg Disease rs180177173 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074585 p.Leu150Pro Disease rs180177222 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074586 p.Gly161Cys Disease rs180177227 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074587 p.Gly161Ser Disease rs180177227 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074588 p.Leu166Pro Disease rs180177230 Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT P21549 VAR_074589 p.Ile202Asn Unclassified rs536352238 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 rs369428934 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHCY P23526 VAR_058589 p.Asp86Gly Disease rs773162208 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHCY P23526 VAR_058590 p.Ala89Val Disease rs755222515 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHCY P23526 VAR_058591 p.Tyr143Cys Disease rs121918608 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] AHDC1 Q5TGY3 VAR_037765 p.Ala935Thr Polymorphism rs4908364 - AHI1 Q8N157 VAR_023391 p.Val443Asp Disease rs121434350 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 rs121434351 Joubert syndrome 3 (JBTS3) [MIM:608629] AHI1 Q8N157 VAR_037895 p.Ser761Leu Polymorphism rs794727174 - AHI1 Q8N157 VAR_037896 p.Arg830Trp Polymorphism rs13312995 - AHI1 Q8N157 VAR_037897 p.Thr856Ser Polymorphism rs199736888 - AHI1 Q8N157 VAR_037898 p.Tyr933Cys Polymorphism rs41288013 - AHI1 Q8N157 VAR_037899 p.Gln1018Pro Polymorphism rs6940875 - AHI1 Q8N157 VAR_037900 p.Ser1123Phe Polymorphism rs117447608 - AHI1 Q8N157 VAR_037901 p.Pro1140Ser Polymorphism rs201148693 - AHI1 Q8N157 VAR_068171 p.Glu1086Gly Polymorphism rs148000791 - AHI1 Q8N157 VAR_071194 p.Arg351Leu Disease rs397514726 Joubert syndrome 3 (JBTS3) [MIM:608629] AHI1 Q8N157 VAR_076820 p.Thr671Ile Disease rs772989270 Joubert syndrome 3 (JBTS3) [MIM:608629] AHI1 Q8N157 VAR_076821 p.Asp719Gly Disease rs863225134 Joubert syndrome 3 (JBTS3) [MIM:608629] AHI1 Q8N157 VAR_076822 p.His896Arg Disease rs863225135 Joubert syndrome 3 (JBTS3) [MIM:608629] AHNAK2 Q8IVF2 VAR_039069 p.Val1266Met Polymorphism rs748458962 - AHNAK2 Q8IVF2 VAR_039070 p.Leu1470Val Polymorphism - - 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 - - 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 rs534942818 - 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 rs72552768 - AHR P35869 VAR_015517 p.Met786Val Polymorphism rs72552769 - 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 - AHSA2P Q719I0 VAR_038256 p.Met248Thr Unclassified - A breast cancer sample AHSG P02765 VAR_002388 p.Met248Thr Polymorphism rs4917 - AHSG P02765 VAR_002389 p.Ser256Thr Polymorphism rs4918 - AHSG P02765 VAR_012474 p.Asp276Asn Polymorphism rs70961709 - AHSG P02765 VAR_012475 p.Arg317Cys Polymorphism rs35457250 - AHSG P02765 VAR_055802 p.Val142Leu Polymorphism rs7633550 - AHSG P02765 VAR_080645 p.Arg317His Unclassified rs201849460 Alopecia-mental retardation syndrome 1 (APMR1) [MIM:203650] AHSP Q9NZD4 VAR_050650 p.Pro100Thr Polymorphism rs36018996 - AICDA Q9GZX7 VAR_013774 p.Arg24Trp Disease rs104894324 Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_013775 p.Trp80Arg Disease rs104894320 Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_013776 p.Leu106Pro Disease rs104894321 Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_013777 p.Met139Val Disease rs104894322 Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_013778 p.Phe151Ser Disease rs104894327 Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_014091 p.Arg25Cys Polymorphism rs1404944797- AICDA Q9GZX7 VAR_077563 p.Phe15Leu Disease - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_077564 p.Tyr31His Disease - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_077565 p.His56Tyr Unclassified - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_077566 p.Cys87Arg Unclassified rs762590894 Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_077567 p.His130Pro Disease - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AICDA Q9GZX7 VAR_077568 p.Arg174Ser Unclassified - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] AIF1 P55008 VAR_048665 p.Gly14Arg Polymorphism rs2736182 - AIFM1 O95831 VAR_067334 p.Gly308Glu Disease - Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816] AIFM1 O95831 VAR_069468 p.Glu493Val Disease rs281864468 Cowchock syndrome (COWCK) [MIM:310490] AIFM1 O95831 VAR_072791 p.Val243Leu Disease - - AIFM1 O95831 VAR_076211 p.Thr260Ala Disease rs863225432 Deafness, X-linked, 5 (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076212 p.Leu344Phe Unclassified rs184474885 Deafness, X-linked, 5 (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076213 p.Gly360Arg Unclassified rs724160026 Deafness, X-linked, 5 (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076214 p.Arg422Gln Disease rs724160021 Deafness, X-linked, 5 (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076215 p.Arg422Trp Disease rs724160020 Deafness, X-linked, 5 (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076216 p.Arg430Cys Unclassified rs1223488720Deafness, X-linked, 5 (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076217 p.Arg451Gln Disease rs863225431 Deafness, X-linked, 5 (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076218 p.Ala472Val Unclassified - Deafness, X-linked, 5 (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076219 p.Pro475Leu Unclassified rs724160022 Deafness, X-linked, 5 (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076220 p.Val498Met Unclassified rs724160023 Deafness, X-linked, 5 (DFNX5) [MIM:300614] AIFM1 O95831 VAR_076221 p.Ile591Met Unclassified - Deafness, X-linked, 5 (DFNX5) [MIM:300614] 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 - AIM2 O14862 VAR_022022 p.Glu32Lys Polymorphism rs2276405 - AIM2 O14862 VAR_043379 p.Cys304Tyr Polymorphism rs778047649 - AIMP1 Q12904 VAR_025212 p.Pro79Ala Polymorphism rs1134648 - AIMP1 Q12904 VAR_029156 p.Thr104Ala Polymorphism rs113844295 - 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 rs982080297 A lung cancer cell line AIPL1 Q9NZN9 VAR_010139 p.Cys239Arg Disease rs62637012 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 Polymorphism rs62637015 - AIP O00170 VAR_043908 p.Arg16His Polymorphism rs145047094 - AIP O00170 VAR_043909 p.Gln228Lys Polymorphism rs641081 - AIP O00170 VAR_043910 p.Lys241Glu Unclassified - Pituitary adenoma 1, multiple types (PITA1) [MIM:102200] AIP O00170 VAR_043912 p.Arg271Trp Unclassified - Pituitary adenoma 1, multiple types (PITA1) [MIM:102200] AIP O00170 VAR_043913 p.Arg304Gln Disease - Pituitary adenoma 1, multiple types (PITA1) [MIM:102200] AIP O00170 VAR_061545 p.Gln307Arg Polymorphism rs4930199 - AIRE O43918 VAR_005004 p.Leu28Pro Disease rs179363878 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_005005 p.Lys83Glu Disease rs121434255 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_005006 p.Ser278Arg Polymorphism rs1800520 - AIRE O43918 VAR_013713 p.Arg15Leu Disease rs179363876 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013714 p.Thr16Met Disease rs179363877 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013715 p.Leu29Pro Disease rs179363879 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013716 p.Trp78Arg Disease rs179363880 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013717 p.Val80Leu Disease rs179363881 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013718 p.Tyr85Cys Disease rs179363882 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013719 p.Tyr90Cys Disease rs179363883 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013720 p.Leu93Arg Disease rs179363884 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013721 p.Val301Met Disease rs150634562 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013722 p.Gly305Ser Unclassified - - AIRE O43918 VAR_013723 p.Cys311Tyr Disease rs386833674 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_013724 p.Pro326Gln Disease rs179363885 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_014422 p.Gly228Trp Disease rs121434257 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_026480 p.Arg15Cys Disease rs179363875 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_026481 p.Ala21Val Disease rs179363886 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_026483 p.Phe77Ser Disease rs179363887 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_026484 p.Pro252Leu Disease rs34397615 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_026485 p.Pro326Leu Disease rs179363885 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_026486 p.Pro539Leu Disease rs179363889 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE O43918 VAR_076940 p.Glu298Lys Unclassified rs763636007 - AIRE O43918 VAR_076941 p.Cys299Trp Unclassified rs751066946 - AIRE O43918 VAR_076942 p.Cys302Tyr Unclassified - - AIRE O43918 VAR_076943 p.Arg303Gln Unclassified rs139808903 - AIRE O43918 VAR_076944 p.Arg303Trp Unclassified rs778929451 - AIRE O43918 VAR_076945 p.Gly306Arg Unclassified rs754932526 - AIRE O43918 VAR_076946 p.Ile309Met Unclassified rs74162062 - AIRE O43918 VAR_076947 p.Arg316Gln Unclassified rs202027254 - AIRE O43918 VAR_076948 p.Arg316Trp Unclassified rs139874934 - AIRE O43918 VAR_076949 p.His319Pro Unclassified rs776951380 - AIRE O43918 VAR_076950 p.Arg328Gln Polymorphism rs775921321 - AIRE O43918 VAR_076951 p.Arg328Trp Unclassified rs74162063 - AIRE O43918 VAR_076952 p.Ser332Arg Unclassified rs766901260 - AIRE O43918 VAR_076953 p.Val484Ala Unclassified rs769470638 - AJAP1 Q9UKB5 VAR_031821 p.Gly263Arg Polymorphism rs242056 - AK1 P00568 VAR_004021 p.Arg128Trp Disease rs104894101 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 rs137853204 Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] AK1 P00568 VAR_055338 p.Gly64Arg Disease rs137853205 Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631] AK1 P00568 VAR_055340 p.Tyr164Cys Disease rs137853203 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 rs267606648 Reticular dysgenesis (RDYS) [MIM:267500] AK2 P54819 VAR_054631 p.Asp165Gly Disease rs267606643 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 - AK7 Q96M32 VAR_080917 p.Leu673Pro Disease rs116298211 Spermatogenic failure 27 (SPGF27) [MIM:617965] 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 rs552053449 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 rs143517596 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 rs745389246 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.Gln458His Polymorphism rs2058322 - AKAP8 O43823 VAR_036534 p.Gln664His Unclassified - A breast cancer sample AKAP9 Q99996 VAR_024249 p.Met463Ile Polymorphism rs6964587 - AKAP9 Q99996 VAR_030162 p.Asn2792Ser Polymorphism rs6960867 - AKAP9 Q99996 VAR_030163 p.Pro2979Ser Polymorphism rs1063242 - AKAP9 Q99996 VAR_035785 p.Met2409Ile Unclassified - A colorectal cancer sample AKAP9 Q99996 VAR_035786 p.Glu3297Gln Unclassified rs756245027 A breast cancer sample AKAP9 Q99996 VAR_043489 p.Ser1570Leu Disease rs121908566 Long QT syndrome 11 (LQT11) [MIM:611820] AKAP9 Q99996 VAR_043490 p.Lys2484Arg Polymorphism rs35759833 - AKAP9 Q99996 VAR_043491 p.Gln3444Arg Polymorphism rs34956633 - AKAP9 Q99996 VAR_043492 p.Met3614Val 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 rs139588200 - AKR1C1 Q04828 VAR_048215 p.Gln172Leu Polymorphism rs11474 - AKR1C2 P52895 VAR_014748 p.Leu172Gln Polymorphism rs11474 - AKR1C2 P52895 VAR_048216 p.Phe46Tyr Polymorphism rs2854482 - AKR1C2 P52895 VAR_066632 p.Ile79Val Disease rs387906750 46,XY sex reversal 8 (SRXY8) [MIM:614279] AKR1C2 P52895 VAR_066633 p.His90Gln Disease rs797044460 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 rs387906751 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 rs11551177 - 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 - AKR1C8P Q5T2L2 VAR_032355 p.Arg50His Polymorphism rs7097295 - AKR1D1 P51857 VAR_033007 p.Leu106Phe Disease rs121918343 Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555] AKR1D1 P51857 VAR_033008 p.Pro198Leu Disease rs121918342 Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555] AKR1D1 P51857 VAR_044430 p.Pro133Arg Disease rs267606649 Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555] AKR1D1 P51857 VAR_044431 p.Arg261Cys Disease rs267606650 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] AKT1 P31749 VAR_069791 p.Arg25Cys Disease rs397514644 Cowden syndrome 6 (CWS6) [MIM:615109] AKT1 P31749 VAR_069792 p.Thr435Pro Disease rs397514645 Cowden syndrome 6 (CWS6) [MIM:615109] 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 rs387906659 Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) [MIM:240900] AKT2 P31751 VAR_067310 p.Arg274His Disease rs121434593 Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] AKT3 Q9Y243 VAR_040358 p.Gly171Arg Unclassified rs1402272180A glioblastoma multiforme sample AKT3 Q9Y243 VAR_065830 p.Glu17Lys Disease rs397514606 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937] AKT3 Q9Y243 VAR_065830 p.Glu17Lys Unclassified rs397514606 Melanoma AKT3 Q9Y243 VAR_069260 p.Asn229Ser Disease rs397514605 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937] AKT3 Q9Y243 VAR_069261 p.Arg465Trp Disease rs587776935 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937] ALAD P13716 VAR_003633 p.Lys59Asn Polymorphism rs1800435 - ALAD P13716 VAR_003634 p.Gly133Arg Disease rs121912980 Acute hepatic porphyria (AHEPP) [MIM:612740] ALAD P13716 VAR_003635 p.Arg240Trp Disease rs121912982 Acute hepatic porphyria (AHEPP) [MIM:612740] ALAD P13716 VAR_003636 p.Ala274Thr Disease rs121912983 Acute hepatic porphyria (AHEPP) [MIM:612740] ALAD P13716 VAR_003637 p.Val275Met Disease rs121912981 Acute hepatic porphyria (AHEPP) [MIM:612740] ALAD P13716 VAR_020973 p.Phe12Leu Polymorphism rs121912984 - ALAD P13716 VAR_020974 p.Val153Met Disease - Acute hepatic porphyria (AHEPP) [MIM:612740] ALAS2 P22557 VAR_000562 p.Thr388Ser Disease rs137852300 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_000563 p.Arg411Cys Disease rs137852305 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_000564 p.Ile476Asn Disease rs137852299 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_012334 p.Tyr199His Disease rs137852310 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_012335 p.Arg204Gln Disease rs1338391423Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_012336 p.Arg448Gln Disease - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_012337 p.Arg452Cys Disease rs137852311 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_018604 p.Asp159Tyr Disease rs137852308 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_018605 p.Arg560His Disease rs892041887 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066232 p.Lys156Glu Disease - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066233 p.Arg170His Disease - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066234 p.Arg218His Disease rs185504937 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066235 p.Glu242Lys Disease - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066236 p.Asp263Asn Disease - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066237 p.Pro339Leu Disease - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066238 p.Arg375Cys Disease - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066239 p.Arg411His Disease - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066240 p.Arg452Gly Disease - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066241 p.Arg452His Disease rs863223904 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066242 p.Pro520Leu Disease rs201062903 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066243 p.Arg572His Disease - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_066244 p.Tyr586Phe Polymorphism rs139596860 - ALAS2 P22557 VAR_072328 p.Phe165Leu Disease rs137852301 Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_072329 p.Arg170Cys Disease - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_072330 p.Val301Ala Disease - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALAS2 P22557 VAR_072331 p.Arg517Gly Disease - Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751] ALB P02768 VAR_000499 p.Arg23Cys Polymorphism rs80008208 - ALB P02768 VAR_000500 p.Arg23His Polymorphism rs72552709 - ALB P02768 VAR_000501 p.Arg24Leu Polymorphism rs74821926 - ALB P02768 VAR_000502 p.Arg24Pro Polymorphism rs74821926 - ALB P02768 VAR_000503 p.Arg24Gln Polymorphism rs74821926 - ALB P02768 VAR_000504 p.Asp25Val Polymorphism rs75353611 - ALB P02768 VAR_000505 p.His27Gln Polymorphism rs76285851 - ALB P02768 VAR_000506 p.His27Tyr Polymorphism rs141733599 - ALB P02768 VAR_000507 p.Glu84Lys Polymorphism rs77050410 - ALB P02768 VAR_000508 p.Asp87Asn Polymorphism rs78574148 - ALB P02768 VAR_000509 p.Glu106Lys Polymorphism rs80296402 - ALB P02768 VAR_000510 p.Arg138Gly Polymorphism rs77238412 - ALB P02768 VAR_000511 p.Glu143Lys Polymorphism rs75522063 - ALB P02768 VAR_000512 p.His152Arg Polymorphism rs80095457 - ALB P02768 VAR_000513 p.Cys201Phe Polymorphism rs77656691 - ALB P02768 VAR_000514 p.Arg242His Disease rs75002628 Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999] ALB P02768 VAR_000515 p.Lys249Gln Polymorphism rs79804069 - ALB P02768 VAR_000516 p.Lys264Glu Polymorphism rs79377490 - ALB P02768 VAR_000517 p.Gln292Arg Polymorphism rs80002911 - ALB P02768 VAR_000518 p.Asp293Gly Polymorphism rs79744198 - ALB P02768 VAR_000519 p.Lys300Asn Polymorphism rs74718349 - ALB P02768 VAR_000520 p.Lys337Asn Polymorphism rs72552710 - ALB P02768 VAR_000521 p.Asn342Lys Polymorphism rs77544362 - ALB P02768 VAR_000522 p.Ala344Thr Polymorphism rs78953271 - ALB P02768 VAR_000523 p.Glu345Lys Polymorphism rs72552711 - ALB P02768 VAR_000524 p.Glu357Lys Polymorphism rs77354753 - ALB P02768 VAR_000525 p.Glu378Lys Polymorphism rs76593094 - ALB P02768 VAR_000526 p.Glu382Lys Polymorphism rs75791663 - ALB P02768 VAR_000527 p.Asp389His Polymorphism rs77187142 - ALB P02768 VAR_000528 p.Asp389Val Polymorphism rs78538497 - ALB P02768 VAR_000529 p.Lys396Glu Polymorphism rs78166690 - ALB P02768 VAR_000530 p.Asp399Asn Polymorphism rs77514449 - ALB P02768 VAR_000531 p.Glu400Lys Polymorphism rs79047363 - ALB P02768 VAR_000532 p.Glu400Gln Polymorphism rs79047363 - ALB P02768 VAR_000533 p.Glu406Lys Polymorphism rs76483862 - ALB P02768 VAR_000534 p.Glu503Lys Polymorphism rs80259813 - ALB P02768 VAR_000535 p.Asp518Asn Polymorphism rs75920790 - ALB P02768 VAR_000536 p.Glu525Lys Polymorphism rs75523493 - ALB P02768 VAR_000537 p.Glu529Lys Polymorphism rs74826639 - ALB P02768 VAR_000538 p.Lys560Glu Polymorphism rs77645174 - ALB P02768 VAR_000539 p.Lys565Glu Polymorphism rs80345158 - ALB P02768 VAR_000540 p.Asp574Gly Polymorphism rs79738788 - ALB P02768 VAR_000541 p.Asp574Ala Polymorphism rs79738788 - ALB P02768 VAR_000542 p.Asp587Asn Polymorphism rs76587671 - ALB P02768 VAR_000543 p.Glu589Lys Polymorphism rs75709682 - ALB P02768 VAR_000544 p.Glu594Lys Polymorphism rs79228041 - ALB P02768 VAR_000545 p.Lys597Glu Polymorphism rs80106970 - ALB P02768 VAR_000546 p.Lys598Asn Polymorphism rs75738598 - ALB P02768 VAR_010657 p.Phe73Tyr Polymorphism - - ALB P02768 VAR_013011 p.Leu90Pro Disease rs77892378 Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999] ALB P02768 VAR_013012 p.Val146Glu Polymorphism rs77752336 - ALB P02768 VAR_013013 p.Arg242Pro Disease rs75002628 Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999] ALB P02768 VAR_013014 p.Asp338Gly Polymorphism rs76242087 - ALB P02768 VAR_013015 p.Asp338Val Polymorphism rs76242087 - ALB P02768 VAR_013016 p.Lys383Asn Polymorphism rs75069738 - ALB P02768 VAR_013017 p.Arg434Cys Polymorphism rs78575701 - ALB P02768 VAR_013018 p.Val557Met Polymorphism rs78284052 - ALB P02768 VAR_013019 p.Lys584Glu Polymorphism rs76671808 - 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 rs121434582 Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] ALDH18A1 P54886 VAR_051792 p.Thr299Ile Disease rs2275272 Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] ALDH18A1 P54886 VAR_051793 p.Ser372Tyr Polymorphism rs3765571 - ALDH18A1 P54886 VAR_058006 p.His784Tyr Disease rs121434583 Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] ALDH18A1 P54886 VAR_075884 p.Gly93Arg Disease - Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] ALDH18A1 P54886 VAR_075885 p.Val120Ala Disease rs863224945 Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162] ALDH18A1 P54886 VAR_075886 p.Arg128His Disease rs768323248 Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586] ALDH18A1 P54886 VAR_075887 p.Arg138Leu Disease rs863225045 Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603] ALDH18A1 P54886 VAR_075888 p.Arg138Gln Disease rs863225045 Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603] ALDH18A1 P54886 VAR_075889 p.Arg138Trp Disease rs863225044 Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603] ALDH18A1 P54886 VAR_075890 p.Val243Leu Disease rs864321669 Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162] ALDH18A1 P54886 VAR_075891 p.Arg252Gln Disease rs864321670 Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162] ALDH18A1 P54886 VAR_075892 p.Leu637Pro Disease rs869320690 Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586] ALDH18A1 P54886 VAR_075893 p.Ser652Phe Disease - Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162] ALDH18A1 P54886 VAR_075894 p.Arg665Leu Disease rs766264810 Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162] ALDH18A1 P54886 VAR_075895 p.Asp715His Disease rs752669339 Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586] ALDH18A1 P54886 VAR_075896 p.Tyr782Cys Disease rs774047299 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 - ALDH1A3 P47895 VAR_069322 p.Arg89Cys Disease rs397514652 Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_069323 p.Ala145Val Disease rs754619607 Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_069324 p.Ile369Phe Disease - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_069325 p.Ala493Pro Disease rs397514653 Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_072332 p.Val71Met Disease rs386834230 Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_072333 p.Cys174Tyr Disease - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_072334 p.Pro355Arg Disease - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_072335 p.Gly382Arg Disease - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_072336 p.Glu411Lys Disease - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] ALDH1A3 P47895 VAR_072337 p.Asn466Lys Disease - Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] 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 rs768309358 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_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 rs769724893 - 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 rs72547558 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002250 p.Cys214Tyr Disease rs72547564 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002251 p.Cys226Trp Disease rs72547565 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002252 p.Asp245Asn Disease rs72547568 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002254 p.Pro315Ser Disease rs72547571 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002255 p.Ser365Leu Disease rs72547573 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_002256 p.Gly412Arg Disease rs778115541 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 rs72547556 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017512 p.Pro114Leu Disease rs72547559 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017513 p.Pro121Leu Disease rs72547560 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017514 p.Thr184Met Disease rs72547562 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 rs72547563 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017517 p.Arg228Cys Disease rs72547566 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017518 p.Cys237Tyr Disease rs72547567 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017519 p.Lys266Asn Disease rs72547569 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017520 p.Tyr279Asn Disease rs72547570 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017521 p.Met328Ile Disease rs72547572 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017522 p.Asn386Ser Disease rs72547575 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 rs72547576 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017527 p.Arg423His Disease rs768290318 Sjoegren-Larsson syndrome (SLS) [MIM:270200] ALDH3A2 P51648 VAR_017528 p.Lys447Glu Disease rs67939114 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 rs146450609 - ALDH4A1 P30038 VAR_002260 p.Ser352Leu Disease rs137852937 Hyperprolinemia 2 (HYRPRO2) [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 rs765561257 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026200 p.Gly176Arg Disease rs72552281 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026201 p.Cys223Tyr Disease rs72552282 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026202 p.Thr233Met Disease rs1326526453Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026203 p.Asn255Ser Disease rs145087265 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026204 p.Gly268Glu Disease rs375628463 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026205 p.Asn335Lys Disease rs72552283 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026206 p.Pro382Leu Disease - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026207 p.Pro382Gln Disease - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026208 p.Gly409Asp Disease rs118203984 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026209 p.Val487Glu Disease - Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026210 p.Gly533Arg Disease rs72552284 Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] ALDH5A1 P51649 VAR_026227 p.Gly36Arg Polymorphism rs4646832 - ALDH5A1 P51649 VAR_026228 p.Ala237Ser Polymorphism rs62621664 - ALDH5A1 P51649 VAR_026229 p.Val406Ile Polymorphism rs143741652 - ALDH5A1 P51649 VAR_069047 p.Asn372Ser Polymorphism - - ALDH6A1 Q02252 VAR_010244 p.Gly446Arg Disease rs72552258 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 rs121912709 Pyridoxine-dependent epilepsy (PDE) [MIM:266100] ALDH7A1 P49419 VAR_031719 p.Glu427Gln Disease rs121912707 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 rs121912711 Pyridoxine-dependent epilepsy (PDE) [MIM:266100] ALDH7A1 P49419 VAR_069187 p.Arg335Gln Disease rs754449549 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 rs121909533 Glycogen storage disease 12 (GSD12) [MIM:611881] ALDOA P04075 VAR_044142 p.Glu207Lys Disease rs121909534 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 rs138824667 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 Polymorphism rs118204430 - ALDOB P05062 VAR_000553 p.Ala150Pro Disease rs1800546 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000554 p.Ala175Asp Disease rs76917243 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000555 p.Leu257Pro Disease rs764701775 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000556 p.Arg304Trp Disease rs555935217 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000557 p.Asn335Lys Disease rs78340951 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_000558 p.Ala338Val Disease rs77718928 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_020822 p.Ile74Thr Disease rs781023784 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 rs145078268 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] ALDOB P05062 VAR_075348 p.Arg46Trp Disease rs41281039 Hereditary fructose intolerance (HFI) [MIM:229600] ALDOB P05062 VAR_075349 p.Tyr343His Disease rs369586696 Hereditary fructose intolerance (HFI) [MIM:229600] ALG10B Q5I7T1 VAR_023753 p.Ile446Val Polymorphism rs61730283 - 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 rs267606652 Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] ALG11 Q2TAA5 VAR_068070 p.Tyr279Ser Disease rs387907181 Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] ALG11 Q2TAA5 VAR_068071 p.Gln318Pro Disease rs387907184 Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] ALG11 Q2TAA5 VAR_068072 p.Leu381Ser Disease rs387907182 Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] ALG11 Q2TAA5 VAR_068073 p.Glu398Lys Disease rs387907183 Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] ALG12 Q9BV10 VAR_017904 p.Thr67Met Disease rs121907931 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 rs121907932 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143] ALG12 Q9BV10 VAR_017907 p.Leu158Pro Disease rs121907934 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143] ALG12 Q9BV10 VAR_024466 p.Ile393Val Polymorphism rs3922872 - ALG12 Q9BV10 VAR_038428 p.Gly101Arg Disease rs121907933 Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143] ALG13 Q9NP73 VAR_069218 p.Lys94Glu Disease rs867599353 Epileptic encephalopathy, early infantile, 36 (EIEE36) [MIM:300884] ALG13 Q9NP73 VAR_069412 p.Asn107Ser Disease rs398122394 Epileptic encephalopathy, early infantile, 36 (EIEE36) [MIM:300884] ALG14 Q96F25 VAR_029635 p.Val14Met Polymorphism rs11165298 - ALG14 Q96F25 VAR_073331 p.Pro65Leu Disease rs730882050 Myasthenic syndrome, congenital, 15 (CMS15) [MIM:616227] 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 rs121908340 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 rs267606651 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 Disease rs16835020 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077187 p.Gln50Arg Disease rs794726944 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077188 p.Ser71Phe Disease rs200605408 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077189 p.His74Leu Disease rs201337379 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077190 p.Leu88Val Disease rs794727301 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077191 p.Pro98Leu Disease - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077192 p.Leu114Phe Disease - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077193 p.Ile209Ser Disease - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077194 p.Arg276Trp Disease rs151173406 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077195 p.Val281Phe Disease rs553396382 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077196 p.Asp289Gly Disease rs1180515976Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077197 p.Asp291Val Disease rs192564717 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077198 p.Tyr353Asp Disease - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077199 p.Gly358Arg Disease rs886042742 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077200 p.Ser359Leu Disease rs1299775990Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077201 p.Ala360Val Disease rs398124348 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077202 p.Gly363Ala Disease - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077203 p.Leu366Gln Disease - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077204 p.His367Gln Disease - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077205 p.Met382Lys Disease - Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077206 p.Gly384Arg Disease rs1057520122Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG1 Q9BT22 VAR_077207 p.Pro388Ser Disease rs398124349 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] ALG2 Q9H553 VAR_049351 p.Ser11Pro Polymorphism rs11545137 - ALG2 Q9H553 VAR_049352 p.Val367Ala Polymorphism rs35626507 - ALG2 Q9H553 VAR_073332 p.Val68Gly Disease rs730882051 Myasthenic syndrome, congenital, 14 (CMS14) [MIM:616228] 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 rs119103236 Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110] ALG6 Q9Y672 VAR_013442 p.Ser304Phe Polymorphism rs4630153 - ALG6 Q9Y672 VAR_013443 p.Ala333Val Disease rs121908443 Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] ALG6 Q9Y672 VAR_013444 p.Ser478Pro Disease rs121908444 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 rs372079206 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 rs121908293 Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104] ALG8 Q9BVK2 VAR_023481 p.Asn222Ser Polymorphism rs665278 - ALG8 Q9BVK2 VAR_023482 p.Gly275Asp Disease rs121908294 Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104] ALG8 Q9BVK2 VAR_031596 p.Ile439Thr Polymorphism rs17825668 - ALG9 Q9H6U8 VAR_023410 p.Tyr287Cys Disease rs121908023 Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776] ALG9 Q9H6U8 VAR_023411 p.Val289Ile Polymorphism rs10502151 - ALG9 Q9H6U8 VAR_023412 p.Pro506Leu Polymorphism rs185149177 - ALG9 Q9H6U8 VAR_023413 p.Glu523Lys Disease rs121908022 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 rs1130290 - 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 rs746442213 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 rs864309584 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063851 p.Gly1128Ala Disease rs113994088 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063852 p.Thr1151Met Disease rs113994091 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063853 p.Met1166Arg Disease rs1057520019Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063854 p.Ile1171Asn Disease rs1057519698Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063855 p.Phe1174Cys Disease rs1057519697Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063856 p.Phe1174Ile Disease rs281864719 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063857 p.Phe1174Leu Disease rs863225281 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063858 p.Phe1174Val Disease rs281864719 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063859 p.Arg1192Pro Disease rs113994089 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063860 p.Ala1234Thr Disease - Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063861 p.Phe1245Cys Disease rs863225283 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063862 p.Phe1245Val Disease rs281864720 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063863 p.Ile1250Thr Disease rs113994092 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063864 p.Arg1275Leu Polymorphism rs113994087 - ALK Q9UM73 VAR_063865 p.Arg1275Gln Disease rs113994087 Neuroblastoma 3 (NBLST3) [MIM:613014] ALK Q9UM73 VAR_063866 p.Tyr1278Ser Disease rs863225285 Neuroblastoma 3 (NBLST3) [MIM:613014] ALMS1 Q8TCU4 VAR_025433 p.Val672Gly Polymorphism rs2037814 - ALMS1 Q8TCU4 VAR_025434 p.Ser2112Arg Polymorphism rs6724782 - ALMS1 Q8TCU4 VAR_025435 p.Ser2575Asn Polymorphism rs3820700 - ALMS1 Q8TCU4 VAR_025436 p.Asp2673His Polymorphism rs2017116 - ALMS1 Q8TCU4 VAR_056734 p.Gly1413Ala Polymorphism rs886038612 - ALMS1 Q8TCU4 VAR_059575 p.Ile1876Val Polymorphism rs6546838 - ALMS1 Q8TCU4 VAR_059576 p.Arg2285Pro Polymorphism rs6546839 - ALMS1 Q8TCU4 VAR_059577 p.Asn2857Ser Polymorphism rs10193972 - ALMS1 Q8TCU4 VAR_059578 p.Lys3435Glu Polymorphism rs34071195 - ALOX12B O75342 VAR_015173 p.Leu426Pro Disease rs137853023 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_015174 p.His578Gln Disease rs137853024 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_050000 p.Gly94Ser Polymorphism rs8077661 - ALOX12B O75342 VAR_069545 p.Leu24Pro Disease rs201575829 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069546 p.Ile67Phe Disease rs397514533 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069547 p.Arg114Trp Disease rs397514526 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069548 p.Pro127Ser Disease rs72842957 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069549 p.Phe195Leu Disease rs200516538 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069550 p.Tyr318Cys Disease - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069551 p.Lys382Glu Disease - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069552 p.Thr383Met Disease rs760428119 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069553 p.Asn416Lys Disease rs1039399607Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069554 p.Gly462Asp Disease rs774958790 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069555 p.Arg488His Disease rs763468558 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069556 p.Tyr521Cys Disease rs199766569 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069557 p.Val527Met Disease rs199545653 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069558 p.Ala597Glu Disease rs752509098 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069559 p.Ala664Pro Disease - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] ALOX12B O75342 VAR_069560 p.Arg679Leu Disease rs397514528 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] 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 rs121434234 Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] ALOXE3 Q9BYJ1 VAR_015176 p.Val500Phe Disease rs121434232 Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] ALOXE3 Q9BYJ1 VAR_069561 p.Leu237Met Disease rs121434235 Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] ALOXE3 Q9BYJ1 VAR_069562 p.Gly281Val Disease rs786205120 Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] ALOXE3 Q9BYJ1 VAR_069564 p.Leu427Pro Disease rs1355284797Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] ALOXE3 Q9BYJ1 VAR_069565 p.Pro630Leu Disease rs147149459 Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545] ALPG P10696 VAR_027553 p.Leu273Met Polymorphism rs17416141 - ALPG P10696 VAR_027554 p.Leu316Arg Polymorphism rs183793479 - ALPG P10696 VAR_027555 p.Gly527Glu Polymorphism rs1048999 - 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 rs757602009 - ALPK1 Q96QP1 VAR_041514 p.Lys339Glu Unclassified - An ovarian mucinous carcinoma sample ALPK1 Q96QP1 VAR_041515 p.Lys383Glu Polymorphism rs147641444 - 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 rs1313881443- 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 rs56015306 - ALPK3 Q96L96 VAR_041526 p.Gln433Glu Unclassified - A lung large cell carcinoma sample ALPK3 Q96L96 VAR_041527 p.Gln602Arg Polymorphism rs55702300 - ALPK3 Q96L96 VAR_041528 p.Gly663Asp Polymorphism rs34409363 - ALPK3 Q96L96 VAR_041529 p.Arg836Leu Polymorphism rs34906636 - ALPK3 Q96L96 VAR_041530 p.Glu929Asp Polymorphism rs56191073 - ALPK3 Q96L96 VAR_041531 p.Gly1364Glu Unclassified - A metastatic melanoma sample ALPK3 Q96L96 VAR_041532 p.Arg1412Trp Polymorphism rs55752937 - 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 rs121918005 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006148 p.Met62Leu Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006149 p.Arg71Cys Disease rs121918001 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006150 p.Arg71Pro Disease rs121918003 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006151 p.Ala111Thr Disease rs773257111 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006152 p.Arg136His Disease rs121918011 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006153 p.Gly162Val Disease rs121918012 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006154 p.His171Tyr Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006155 p.Ala177Thr Disease rs199669988 Hypophosphatasia childhood type (HOPSC) [MIM:241510] ALPL P05186 VAR_006155 p.Ala177Thr Disease rs199669988 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006156 p.Ala179Thr Disease rs121918000 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006157 p.Glu191Gly Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006158 p.Glu191Lys Disease rs121918007 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006159 p.Cys201Tyr Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006160 p.Gln207Pro Disease rs121918004 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 rs121918002 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006164 p.Asp306Val Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006165 p.Phe327Leu Disease rs121918010 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006165 p.Phe327Leu Disease rs121918010 Hypophosphatasia infantile type (HOPSI) [MIM:241500] ALPL P05186 VAR_006166 p.Gly334Asp Disease rs121918009 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006167 p.Asp378Val Disease rs121918008 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006168 p.Val382Ile Disease rs771540767 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006169 p.Tyr436His Disease rs121918006 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_006170 p.Glu476Lys Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011081 p.Ala40Val Disease rs770093969 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011082 p.Thr134Asn Disease rs780583917 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011083 p.Ala176Thr Disease rs121918019 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011084 p.Lys224Glu Disease rs1226800998Hypophosphatasia infantile type (HOPSI) [MIM:241500] ALPL P05186 VAR_011085 p.Arg246Ser Disease rs1223142821Hypophosphatasia (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 infantile type (HOPSI) [MIM:241500] ALPL P05186 VAR_011090 p.Arg450His Disease rs150799088 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_011091 p.Gly456Arg Disease rs121918016 Hypophosphatasia infantile type (HOPSI) [MIM:241500] 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 infantile type (HOPSI) [MIM:241500] ALPL P05186 VAR_013973 p.Ala51Val Disease rs1470389268Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013974 p.Gly63Val Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013975 p.Arg71His Disease rs121918003 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013976 p.Gly75Ser Disease rs1304394441Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013977 p.Ala116Thr Disease rs121918013 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013978 p.Gly120Arg Disease rs954135116 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013979 p.Gly129Arg Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013980 p.Arg152His Disease rs149344982 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013981 p.Asn170Asp Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013982 p.Ser181Leu Disease rs199590449 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013983 p.Arg184Trp Disease rs763159520 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 rs766076920 Hypophosphatasia childhood type (HOPSC) [MIM:241510] ALPL P05186 VAR_013986 p.Arg223Trp Disease rs766076920 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013987 p.Glu235Gly Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013988 p.Gly249Val Disease rs121918018 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013989 p.Glu291Lys Disease rs786204473 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 rs371243939 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 rs138690664 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_013998 p.Val459Met Disease rs1054159992Hypophosphatasia infantile type (HOPSI) [MIM:241500] 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 rs1413274209Hypophosphatasia (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 childhood type (HOPSC) [MIM:241510] ALPL P05186 VAR_025908 p.Arg71Ser Disease rs121918001 Hypophosphatasia childhood type (HOPSC) [MIM:241510] ALPL P05186 VAR_025909 p.Gln76Arg Disease rs1057521085Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025910 p.Pro108Leu Disease rs121918015 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025911 p.Ala114Gly Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025912 p.Val128Met Disease rs1159854007Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025913 p.Thr134His Disease rs786204530 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025914 p.Thr148Ile Disease rs1376937780Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025915 p.Gly162Ser Disease rs760029254 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025916 p.His171Arg Disease rs778232217 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 rs199665722 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025921 p.Arg272His Disease rs781272386 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025922 p.Arg272Leu Disease rs781272386 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025923 p.Leu275Pro Disease rs1237252052Hypophosphatasia childhood type (HOPSC) [MIM:241510] ALPL P05186 VAR_025924 p.Pro292Thr Disease rs765458125 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025926 p.Met295Thr Disease rs1220125702Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025927 p.Tyr297Asp Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025928 p.Glu298Lys Disease rs121918017 Hypophosphatasia infantile type (HOPSI) [MIM:241500] ALPL P05186 VAR_025929 p.Leu299Pro Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025930 p.Glu311Lys Disease rs763457259 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 rs1442918125Hypophosphatasia childhood type (HOPSC) [MIM:241510] ALPL P05186 VAR_025934 p.Arg391His Disease rs1442918125Hypophosphatasia (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 rs121918014 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025938 p.Gly426Asp Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025939 p.Glu452Lys Disease rs966212736 Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_025940 p.Ala468Thr Disease rs1196976671Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_075557 p.Gly334Arg Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_075558 p.Gly420Ala Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_075559 p.Gly420Ser Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_075560 p.Val459Leu Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPL P05186 VAR_075561 p.Glu476Ala Disease - Hypophosphatasia (HOPS) [MIM:146300] ALPP P05187 VAR_017419 p.Pro25Leu Polymorphism rs1130335 - ALPP P05187 VAR_050520 p.Ile89Leu Polymorphism rs13026692 - ALPP P05187 VAR_050521 p.Arg231Pro Polymorphism rs1048988 - ALPP P05187 VAR_050522 p.Arg263His Polymorphism rs2853378 - ALPP P05187 VAR_050523 p.Glu451Gly Polymorphism rs1048994 - 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 - ALS2CR12 Q96Q35 VAR_045625 p.Val43Leu Polymorphism rs13014235 - ALS2 Q96Q42 VAR_015655 p.His102Arg Polymorphism rs1416065347- 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 rs121908167 Frontonasal dysplasia 1 (FND1) [MIM:136760] ALX3 O95076 VAR_063227 p.Arg183Trp Disease rs121908168 Frontonasal dysplasia 1 (FND1) [MIM:136760] ALX3 O95076 VAR_063228 p.Arg196Trp Disease rs121908170 Frontonasal dysplasia 1 (FND1) [MIM:136760] ALX3 O95076 VAR_063229 p.Asn203Ser Disease rs121908166 Frontonasal dysplasia 1 (FND1) [MIM:136760] ALX4 Q9H161 VAR_010783 p.Arg35Thr Polymorphism rs3824915 - ALX4 Q9H161 VAR_010784 p.Pro102Ser Polymorphism rs12421995 - ALX4 Q9H161 VAR_010785 p.Arg218Gln Disease rs104894193 Parietal foramina 2 (PFM2) [MIM:609597] ALX4 Q9H161 VAR_010897 p.Arg272Pro Disease rs104894196 Parietal foramina 2 (PFM2) [MIM:609597] ALX4 Q9H161 VAR_058413 p.Arg257Thr Polymorphism rs3824915 - ALX4 Q9H161 VAR_069279 p.Val7Phe Disease rs281865153 Craniosynostosis 5 (CRS5) [MIM:615529] ALX4 Q9H161 VAR_069280 p.Lys211Glu Disease rs281865154 Craniosynostosis 5 (CRS5) [MIM:615529] ALX4 Q9H161 VAR_069281 p.Pro306Leu Polymorphism rs149897209 - AMACR Q9UHK6 VAR_010660 p.Val9Met Polymorphism rs3195676 - AMACR Q9UHK6 VAR_010661 p.Ser52Pro Disease rs121917814 Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307] AMACR Q9UHK6 VAR_010661 p.Ser52Pro Disease rs121917814 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 rs121917816 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 rs72654387 - AMBN Q9NP70 VAR_014069 p.His439Arg Polymorphism rs375426598 - 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 rs1220386463A colorectal cancer sample AMELX Q99217 VAR_037581 p.Trp4Ser Disease rs104894738 Amelogenesis imperfecta 1E (AI1E) [MIM:301200] AMELX Q99217 VAR_037582 p.Thr37Ile Disease rs104894733 Amelogenesis imperfecta 1E (AI1E) [MIM:301200] AMELX Q99217 VAR_037583 p.Pro56Thr Disease rs104894736 Amelogenesis imperfecta 1E (AI1E) [MIM:301200] AMER1 Q5JTC6 VAR_031304 p.Lys292Asn Polymorphism rs138948924 - AMER1 Q5JTC6 VAR_053870 p.Phe159Leu Polymorphism rs34677493 - AMER1 Q5JTC6 VAR_053871 p.Ala278Ser Polymorphism rs35718712 - AMER1 Q5JTC6 VAR_076268 p.Arg178Cys Polymorphism rs376626895 - 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 rs373191257 A breast cancer sample AMH P03971 VAR_007483 p.Val12Gly Disease rs149082963 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 rs569914235 Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007488 p.Tyr167Cys Disease rs371874189 Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007489 p.Gln185Glu Polymorphism rs200523942 - AMH P03971 VAR_007490 p.Arg194Cys Disease rs777003373 Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] AMH P03971 VAR_007491 p.Gln325Arg Polymorphism rs140765565 - AMH P03971 VAR_007492 p.Val477Ala Disease rs1358787117Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] AMH P03971 VAR_031027 p.His506Gln Disease rs138571039 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 rs534999427 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 rs539695176 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015528 p.Arg406Gln Disease rs137853104 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 rs775889926 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015531 p.Asp491His Disease rs780680518 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_015532 p.Arg504Cys Disease rs772294564 Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] AMHR2 Q16671 VAR_069048 p.Arg319His Polymorphism rs144236183 - AMMECR1 Q9Y4X0 VAR_078027 p.Gly177Asp Disease rs1057519337Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis (MFHIEN) [MIM:300990] AMN Q9BXJ7 VAR_015733 p.Thr41Ile Disease rs119478058 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 rs61752479 - AMPD1 P23109 VAR_013271 p.Arg421Trp Disease rs35859650 Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511] AMPD1 P23109 VAR_013272 p.Arg458His Disease rs121912682 Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511] 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 - AMPD2 Q01433 VAR_071158 p.Arg674His Disease rs587777395 Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809] AMPD2 Q01433 VAR_071159 p.Asp793Tyr Disease rs587777394 Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809] AMPD2 Q01433 VAR_071193 p.Glu778Asp Disease rs587777392 Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809] 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 rs117706710 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042608 p.Ala320Val Disease rs147542803 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042609 p.Met324Thr Disease rs750004231 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042610 p.Arg331Cys Disease rs758038726 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042611 p.Arg402Cys Disease rs766280048 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042612 p.Trp450Arg Disease rs1273151844Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] AMPD3 Q01432 VAR_042613 p.Tyr455His Polymorphism rs36003153 - AMPD3 Q01432 VAR_042614 p.Pro585Leu Disease rs748852415 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 rs151041998 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 rs121964983 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_007952 p.Gly47Arg Disease rs121964982 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_007953 p.Gly269Asp Disease rs121964981 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_007954 p.Asp276His Disease rs121964984 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_007955 p.Arg320His Disease rs121964985 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_016847 p.Asn145Ile Disease rs386833682 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_016848 p.Glu211Lys Disease rs116192290 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_074107 p.Arg265Cys Disease rs779483959 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_078794 p.Arg94Trp Disease rs1126422 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_078795 p.Arg222Cys Disease rs781466698 Non-ketotic hyperglycinemia (NKH) [MIM:605899] AMT P48728 VAR_078796 p.Arg296Cys Disease rs1056820947Non-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 rs121909535 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044148 p.Lys41Glu Disease rs121909537 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044149 p.Lys41Ile Disease rs121909536 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044150 p.Ser52Asn Disease rs121909542 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044151 p.Arg55Lys Disease rs121909538 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044152 p.Cys63Trp Disease rs121909539 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044153 p.Lys64Ile Disease rs121909540 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044154 p.Ile70Val Polymorphism rs121909541 - ANG P03950 VAR_044155 p.Pro136Leu Disease rs121909543 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044156 p.Val137Ile Disease rs121909544 Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_044157 p.His138Arg Disease - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_073021 p.Tyr38His Disease rs1032422334Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG P03950 VAR_073022 p.Asp46Gly Disease rs1440927797Amyotrophic 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 rs72649573 - ANGPTL3 Q9Y5C1 VAR_075670 p.Lys63Thr Polymorphism rs146749211 - ANGPTL3 Q9Y5C1 VAR_075671 p.Glu91Gly Polymorphism rs139334976 - ANGPTL3 Q9Y5C1 VAR_075672 p.Leu164Phe Polymorphism rs775976787 - ANGPTL3 Q9Y5C1 VAR_075673 p.Asn173Ser Polymorphism rs149624466 - ANGPTL3 Q9Y5C1 VAR_075674 p.Met259Thr Polymorphism rs77871363 - ANGPTL3 Q9Y5C1 VAR_075675 p.Arg288Gln Polymorphism rs763904695 - ANGPTL3 Q9Y5C1 VAR_075677 p.Ser292Pro Polymorphism rs138899888 - ANGPTL3 Q9Y5C1 VAR_075678 p.Tyr344Ser Polymorphism rs1334979946- ANGPTL3 Q9Y5C1 VAR_075679 p.Glu375Lys Polymorphism rs768802285 - ANGPTL3 Q9Y5C1 VAR_075680 p.Tyr417Cys Polymorphism rs376210525 - ANGPTL4 Q9BY76 VAR_020428 p.Thr266Met Polymorphism rs1044250 - ANGPTL4 Q9BY76 VAR_032642 p.Pro5Leu Polymorphism rs761583091 - ANGPTL4 Q9BY76 VAR_032643 p.Glu40Lys Polymorphism rs116843064 - ANGPTL4 Q9BY76 VAR_032644 p.Met41Ile Polymorphism rs186754194 - ANGPTL4 Q9BY76 VAR_032645 p.Ser67Arg Polymorphism rs538554190 - ANGPTL4 Q9BY76 VAR_032646 p.Arg72Leu Polymorphism rs141831018 - ANGPTL4 Q9BY76 VAR_032647 p.Gly77Arg Polymorphism rs568624939 - ANGPTL4 Q9BY76 VAR_032648 p.Glu167Lys Polymorphism rs140640857 - ANGPTL4 Q9BY76 VAR_032649 p.Pro174Ser Polymorphism rs1008363865- ANGPTL4 Q9BY76 VAR_032650 p.Glu190Gln Polymorphism rs77938377 - ANGPTL4 Q9BY76 VAR_032651 p.Glu196Lys Polymorphism rs1192364228- ANGPTL4 Q9BY76 VAR_032652 p.Arg230Cys Polymorphism rs201026877 - ANGPTL4 Q9BY76 VAR_032653 p.Gly233Arg Polymorphism - - ANGPTL4 Q9BY76 VAR_032654 p.Phe237Val Polymorphism rs768374046 - ANGPTL4 Q9BY76 VAR_032655 p.Pro251Thr Polymorphism rs376328756 - ANGPTL4 Q9BY76 VAR_032656 p.Arg278Gln Polymorphism rs35061979 - ANGPTL4 Q9BY76 VAR_032657 p.Val291Met Polymorphism rs150000287 - ANGPTL4 Q9BY76 VAR_032658 p.Leu293Met Polymorphism rs775667046 - ANGPTL4 Q9BY76 VAR_032659 p.Glu296Val Polymorphism - - ANGPTL4 Q9BY76 VAR_032660 p.Pro307Ser Polymorphism rs751249880 - ANGPTL4 Q9BY76 VAR_032661 p.Val308Met Polymorphism rs139998264 - ANGPTL4 Q9BY76 VAR_032662 p.Arg336Cys Polymorphism rs140744493 - ANGPTL4 Q9BY76 VAR_032663 p.Asp338Glu Polymorphism rs780121474 - ANGPTL4 Q9BY76 VAR_032664 p.Trp349Cys Polymorphism rs1033145581- ANGPTL4 Q9BY76 VAR_032665 p.Gly361Arg Polymorphism rs755737249 - ANGPTL4 Q9BY76 VAR_032666 p.Gly361Ser Polymorphism rs755737249 - ANGPTL4 Q9BY76 VAR_032667 p.Arg371Gln Polymorphism rs779488814 - ANGPTL4 Q9BY76 VAR_032668 p.Arg384Trp Polymorphism rs146942305 - 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 - ANGPTL8 Q6UXH0 VAR_039046 p.Arg59Trp Polymorphism rs2278426 - ANGPTL8 Q6UXH0 VAR_039047 p.Arg147Gln Polymorphism rs34056604 - ANK1 P16157 VAR_000595 p.Arg21Thr Polymorphism - - ANK1 P16157 VAR_000596 p.Val463Ile Disease rs140085544 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 Polymorphism rs1457291305- ANK1 P16157 VAR_026411 p.Val991Leu Polymorphism rs758454168 - 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 Unclassified rs72544141 Long QT syndrome 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_022935 p.Leu3740Ile Disease rs35530544 Long QT syndrome 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_022936 p.Thr3744Asn Disease rs121912705 Long QT syndrome 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_022937 p.Arg3906Trp Disease rs121912706 Long QT syndrome 4 (LQT4) [MIM:600919] ANK2 Q01484 VAR_022938 p.Glu3931Lys Disease rs45454496 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 - ANK2 Q01484 VAR_081135 p.Val1555Asp Polymorphism - - 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 rs375050420 - ANK3 Q12955 VAR_068703 p.Thr3720Met Unclassified rs201547988 - ANK3 Q12955 VAR_068704 p.Thr4255Pro Unclassified rs769573528 - ANK3 Q12955 VAR_077912 p.Asp968His Unclassified rs730882195 - 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, autosomal dominant (CMDD) [MIM:123000] ANKH Q9HCJ1 VAR_012193 p.Cys331Arg Disease - Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000] ANKH Q9HCJ1 VAR_012198 p.Gly389Arg Disease rs28939080 Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000] ANKH Q9HCJ1 VAR_017556 p.Met48Thr Disease rs121908407 Chondrocalcinosis 2 (CCAL2) [MIM:118600] ANKH Q9HCJ1 VAR_022606 p.Pro5Leu Disease rs121908409 Chondrocalcinosis 2 (CCAL2) [MIM:118600] ANKH Q9HCJ1 VAR_022607 p.Pro5Thr Disease rs121908410 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 - ANKLE2 Q86XL3 VAR_076205 p.Leu573Val Disease rs863225465 Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681] 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 - ANKRD11 Q6UB99 VAR_075870 p.Arg2512Gln Unclassified - KBG syndrome (KBGS) [MIM:148050] 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 rs142354133 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.Val1305Ile Polymorphism rs10829163 - ANKRD26 Q9UPS8 VAR_026835 p.Phe1514Leu Polymorphism rs2274741 - ANKRD26 Q9UPS8 VAR_055513 p.Ile425Val Polymorphism rs12359281 - ANKRD26 Q9UPS8 VAR_055514 p.Val1220Leu 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 rs767831283 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 - ANKRD33 Q7Z3H0 VAR_059121 p.Tyr140Phe Polymorphism rs697636 - ANKRD33 Q7Z3H0 VAR_059122 p.Gln257Arg Polymorphism rs34494292 - ANKRD33 Q7Z3H0 VAR_059123 p.Thr313Asn Polymorphism rs12368048 - 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 - ANKS6 Q68DC2 VAR_070105 p.Arg222Trp Polymorphism rs41283630 - ANKS6 Q68DC2 VAR_070106 p.Ala312Pro Disease - Nephronophthisis 16 (NPHP16) [MIM:615382] ANKS6 Q68DC2 VAR_070107 p.Arg440Gln Polymorphism rs763855876 - ANKS6 Q68DC2 VAR_070108 p.Gln441Arg Disease rs377750405 Nephronophthisis 16 (NPHP16) [MIM:615382] ANKS6 Q68DC2 VAR_070109 p.Gly640Ser Polymorphism rs749102463 - ANKS6 Q68DC2 VAR_070110 p.Pro735Ala Polymorphism rs79414550 - 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 - ANKZF1 Q9H8Y5 VAR_079137 p.Glu152Lys Unclassified rs149382949 - ANKZF1 Q9H8Y5 VAR_079138 p.Arg585Gln Unclassified rs189875478 - ANKZF1 Q9H8Y5 VAR_079139 p.Gln638Pro Polymorphism - - ANLN Q9NQW6 VAR_025661 p.Ser65Trp Polymorphism rs3735400 - ANLN Q9NQW6 VAR_025662 p.Arg185Lys Polymorphism rs197367 - ANLN Q9NQW6 VAR_072418 p.Arg431Cys Disease rs587777741 Focal segmental glomerulosclerosis 8 (FSGS8) [MIM:616032] ANLN Q9NQW6 VAR_072419 p.Gly618Cys Disease - Focal segmental glomerulosclerosis 8 (FSGS8) [MIM:616032] 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 rs387907089 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 - ANO3 Q9BYT9 VAR_069732 p.Trp490Cys Disease - Dystonia 24 (DYT24) [MIM:615034] ANO3 Q9BYT9 VAR_069733 p.Arg494Trp Disease rs587776922 Dystonia 24 (DYT24) [MIM:615034] ANO3 Q9BYT9 VAR_069734 p.Ser685Gly Disease rs587776923 Dystonia 24 (DYT24) [MIM:615034] ANO3 Q9BYT9 VAR_069735 p.Lys862Asn Disease rs1277790116Dystonia 24 (DYT24) [MIM:615034] ANO4 Q32M45 VAR_032453 p.Gly115Ala Polymorphism rs34162417 - ANO5 Q75V66 VAR_023524 p.Cys356Gly Disease rs119103234 Gnathodiaphyseal dysplasia (GDD) [MIM:166260] ANO5 Q75V66 VAR_023525 p.Cys356Arg Disease rs119103234 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 Unclassified rs137854523 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_063583 p.Arg758Cys Unclassified rs137854529 Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319] ANO5 Q75V66 VAR_063583 p.Arg758Cys Unclassified rs137854529 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_068247 p.Arg58Trp Unclassified rs201725369 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_068248 p.Trp655Cys Unclassified rs760137559 Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319] ANO5 Q75V66 VAR_076476 p.Cys356Tyr Disease - Gnathodiaphyseal dysplasia (GDD) [MIM:166260] ANO5 Q75V66 VAR_076477 p.Thr513Ile Unclassified rs281865467 Gnathodiaphyseal dysplasia (GDD) [MIM:166260] ANO5 Q75V66 VAR_080271 p.Asn52Ser Unclassified rs143777403 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080272 p.Phe54Ser Unclassified rs886043577 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080273 p.Val87Ile Unclassified rs34994927 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080274 p.Asp93Glu Unclassified - Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080275 p.Tyr143Cys Unclassified - Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080276 p.Glu202Lys Unclassified rs115750596 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080277 p.Thr206Ala Unclassified rs78266558 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080278 p.Lys259Asn Unclassified - Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080279 p.Asn265Ser Unclassified rs377553546 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080280 p.Pro266Leu Unclassified rs745908606 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080281 p.Thr267Ser Unclassified rs138144479 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080282 p.Arg404Leu Unclassified - Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080284 p.Ser506Gly Unclassified rs141799673 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080286 p.Arg547Gln Unclassified rs139618850 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080287 p.Ser555Ile Unclassified rs375014127 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080288 p.Phe578Ser Unclassified rs137854526 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080289 p.Met618Ile Unclassified rs1422717390Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080291 p.Thr714Ser Unclassified rs200631556 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080292 p.Leu781Pro Unclassified - Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080293 p.Ser796Leu Unclassified rs61910685 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080294 p.Cys804Ser Unclassified - Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080295 p.Ala830Val Unclassified rs766853141 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080296 p.Met833Lys Unclassified rs142073798 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080297 p.Met839Arg Unclassified - Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] ANO5 Q75V66 VAR_080298 p.Met900Leu Unclassified rs148293985 Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307] 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.Leu93Phe Polymorphism rs7395065 - ANOS1 P23352 VAR_007720 p.Asn267Lys Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_007721 p.Val534Ile Polymorphism rs808119 - ANOS1 P23352 VAR_012742 p.Glu514Lys Disease rs137852515 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031012 p.Cys163Tyr Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031013 p.Cys172Arg Disease rs1394625082Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031014 p.Arg262Pro Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031015 p.Asn304Ser Disease rs140812865 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031016 p.Ser396Leu Disease rs137852517 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031017 p.Phe517Leu Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031018 p.Trp571Arg Disease rs1170543613Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_031019 p.Lys666Met Polymorphism - - ANOS1 P23352 VAR_031020 p.Arg668His Polymorphism rs775708192 - ANOS1 P23352 VAR_065362 p.Cys134Gly Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_065363 p.Cys163Arg Disease - Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_065364 p.Glu539Lys Disease rs144586521 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_069207 p.Tyr217Asp Disease - - ANOS1 P23352 VAR_069968 p.Val587Leu Disease rs137900287 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] ANOS1 P23352 VAR_072992 p.His672Arg Disease rs199771303 Hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700] 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 Polymorphism rs119475040 - ANTXR2 P58335 VAR_022687 p.Leu45Pro Disease rs886041401 Hyaline fibromatosis syndrome (HFS) [MIM:228600] ANTXR2 P58335 VAR_022688 p.Gly105Asp Disease rs137852902 Hyaline fibromatosis syndrome (HFS) [MIM:228600] ANTXR2 P58335 VAR_022689 p.Ile189Thr Disease rs137852905 Hyaline fibromatosis syndrome (HFS) [MIM:228600] ANTXR2 P58335 VAR_022690 p.Cys218Arg Disease rs781637328 Hyaline fibromatosis syndrome (HFS) [MIM:228600] ANTXR2 P58335 VAR_022692 p.Leu329Arg Disease rs137852903 Hyaline fibromatosis syndrome (HFS) [MIM:228600] ANTXR2 P58335 VAR_022693 p.Ala357Pro Polymorphism rs12647691 - ANTXR2 P58335 VAR_022694 p.Tyr381Cys Disease rs137852901 Hyaline fibromatosis syndrome (HFS) [MIM:228600] ANTXRL A6NF34 VAR_042963 p.Pro550Arg 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 - ANXA11 P50995 VAR_080653 p.Gly38Arg Unclassified rs142083484 Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839] ANXA11 P50995 VAR_080654 p.Asp40Gly Disease rs1247392012Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839] ANXA11 P50995 VAR_080655 p.Gly175Arg Unclassified rs754594235 Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839] ANXA11 P50995 VAR_080656 p.Gly189Glu Unclassified rs569546089 Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839] ANXA11 P50995 VAR_080657 p.Arg235Gln Unclassified rs765489119 Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839] ANXA11 P50995 VAR_080658 p.Arg346Cys Unclassified rs770574196 Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839] 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 rs17845226 - 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 - ANXA8L1 Q5VT79 VAR_048254 p.Ala177Gly Polymorphism rs3013886 - ANXA8L1 Q5VT79 VAR_067447 p.Ala134Val Polymorphism rs201596209 - ANXA8L1 Q5VT79 VAR_067448 p.Lys192Asn Polymorphism rs977788 - ANXA8 P13928 VAR_000604 p.Ser6Ala Polymorphism rs3870786 - ANXA8 P13928 VAR_030630 p.Gly177Ala Polymorphism rs3013886 - ANXA9 O76027 VAR_022814 p.Asp166Gly Polymorphism rs267733 - ANXA9 O76027 VAR_031212 p.Arg225Gln Polymorphism rs775255778 - 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 rs2228410 - AOC1 P19801 VAR_007542 p.His645Asp Polymorphism rs1049793 - AOC1 P19801 VAR_025078 p.Thr16Met Polymorphism rs10156191 - AOC1 P19801 VAR_025079 p.Ser332Phe Polymorphism rs1049742 - AOC1 P19801 VAR_025080 p.Met479Ile Polymorphism rs45558339 - AOC1 P19801 VAR_025081 p.Asn659His Polymorphism rs35070995 - 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 - AOX1 Q06278 VAR_070256 p.Arg921His Polymorphism rs56199635 - AOX1 Q06278 VAR_070257 p.Asn1135Ser Polymorphism rs55754655 - AOX1 Q06278 VAR_070258 p.Ser1271Leu Polymorphism rs141786030 - 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 rs999036825 A breast cancer sample AP1S3 Q96PC3 VAR_072545 p.Phe4Cys Disease rs116107386 Psoriasis 15, pustular (PSORS15) [MIM:616106] AP1S3 Q96PC3 VAR_072546 p.Gln17Lys Polymorphism rs750870128 - AP1S3 Q96PC3 VAR_072547 p.Thr22Ala Polymorphism rs149183052 - AP1S3 Q96PC3 VAR_072548 p.Thr32Ile Polymorphism rs78536455 - AP1S3 Q96PC3 VAR_072549 p.Arg33Trp Disease rs138292988 Psoriasis 15, pustular (PSORS15) [MIM:616106] AP1S3 Q96PC3 VAR_072550 p.Leu79Val Polymorphism rs34353588 - AP1S3 Q96PC3 VAR_072551 p.Ile83Thr Polymorphism rs202157374 - AP1S3 Q96PC3 VAR_072552 p.Gln124Glu Polymorphism - - AP2A1 O95782 VAR_060544 p.Pro270Leu Polymorphism rs17851121 - AP2S1 P53680 VAR_069570 p.Arg15Cys Disease rs397514498 Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740] AP2S1 P53680 VAR_069571 p.Arg15His Disease rs397514499 Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740] AP2S1 P53680 VAR_069572 p.Arg15Leu Disease rs397514499 Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740] AP3B1 O00203 VAR_011596 p.Leu580Arg Disease rs121908904 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 - AP4E1 Q9UPM8 VAR_076619 p.Ile85Thr Polymorphism rs147005786 - AP4E1 Q9UPM8 VAR_076620 p.Phe96Val Unclassified rs566579877 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076621 p.Thr145Ser Polymorphism rs200034177 - AP4E1 Q9UPM8 VAR_076622 p.His205Asn Unclassified rs148499164 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076623 p.Arg211Gln Polymorphism rs750328226 - AP4E1 Q9UPM8 VAR_076624 p.Asn264Ser Polymorphism rs145541719 - AP4E1 Q9UPM8 VAR_076625 p.Asn311Ser Unclassified rs536656846 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076626 p.Ser326Phe Unclassified rs372479885 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076627 p.His384Arg Unclassified rs866266998 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076628 p.Ile426Leu Polymorphism rs148817957 - AP4E1 Q9UPM8 VAR_076629 p.Ala475Val Unclassified rs200678853 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076630 p.Val517Ile Disease rs760021635 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076631 p.Met542Val Unclassified rs542940704 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076632 p.Val618Ile Polymorphism rs142215198 - AP4E1 Q9UPM8 VAR_076633 p.Ser623Pro Unclassified rs766696884 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076634 p.Ile706Lys Polymorphism rs865868636 - AP4E1 Q9UPM8 VAR_076635 p.Glu801Lys Disease rs556450190 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076636 p.Met813Val Polymorphism rs779094838 - AP4E1 Q9UPM8 VAR_076637 p.Ser905Pro Unclassified rs780520338 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076638 p.Pro978Ser Unclassified rs141278078 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076639 p.Ile1080Val Unclassified rs767423538 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076640 p.Leu1089Arg Unclassified rs550237440 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_076641 p.Arg1105Gln Unclassified rs139640763 Stuttering, familial persistent 1 (STUT1) [MIM:184450] AP4E1 Q9UPM8 VAR_079485 p.Lys719Glu Unclassified - - 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 rs1288757495A 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 rs267606659 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 rs137854567 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 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 rs869312784 Colorectal tumor APC P25054 VAR_005041 p.Asn1118Asp Polymorphism rs140493115 - APC P25054 VAR_005042 p.Gly1120Glu Disease rs28933379 Gastric cancer (GASC) [MIM:613659] APC P25054 VAR_005043 p.Arg1171His Disease rs372481703 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 Unclassified rs371113837 Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_005048 p.Ile1304Val Polymorphism rs770157475 - 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 Unclassified rs863225349 Colorectal tumor APC P25054 VAR_005051 p.Thr1313Ala Disease rs863225349 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 rs72541816 Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_005057 p.Leu2839Phe Disease rs876658156 Familial adenomatous polyposis (FAP) [MIM:175100] APC P25054 VAR_008992 p.Arg1171Cys Polymorphism rs201830995 - APC P25054 VAR_008993 p.Val1822Asp Polymorphism rs459552 - APC P25054 VAR_008994 p.Ile2738Thr Polymorphism rs863224552 - APC P25054 VAR_009613 p.Arg99Trp Unclassified rs139196838 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 rs779998847 Colorectal carcinoma APC P25054 VAR_012976 p.Ala1508Val Unclassified - Colorectal carcinoma from a patient with MMRCS APC P25054 VAR_017653 p.Ala1296Val Disease rs1291513037Medulloblastoma (MDB) [MIM:155255] APC P25054 VAR_017654 p.Val1472Ile Disease rs878853445 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 Polymorphism rs137854578 - 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 Polymorphism rs145122391 - APEX2 Q9UBZ4 VAR_064034 p.Asn392His Polymorphism rs201964062 - 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 rs12242 - APMAP Q9HDC9 VAR_055039 p.Arg282Gln Polymorphism rs35097515 - APMAP Q9HDC9 VAR_055040 p.Arg374Trp Polymorphism rs28364786 - APOA1 P02647 VAR_000605 p.Pro27His Polymorphism rs121912720 - APOA1 P02647 VAR_000606 p.Pro27Arg Polymorphism rs121912720 - APOA1 P02647 VAR_000607 p.Pro28Arg Polymorphism rs121912721 - 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 rs121912724 Amyloidosis 8 (AMYL8) [MIM:105200] APOA1 P02647 VAR_000611 p.Asp113Glu Polymorphism rs150243849 - APOA1 P02647 VAR_000612 p.Ala119Asp Unclassified - - APOA1 P02647 VAR_000613 p.Asp127Asn Polymorphism rs921646982 - 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 Polymorphism rs121912718 - APOA1 P02647 VAR_000619 p.Glu163Gly Polymorphism rs758509542 - APOA1 P02647 VAR_000620 p.Pro167Arg Polymorphism rs121912719 - APOA1 P02647 VAR_000621 p.Leu168Arg Unclassified - - APOA1 P02647 VAR_000622 p.Glu171Val Polymorphism rs1015066427- APOA1 P02647 VAR_000623 p.Pro189Arg Polymorphism rs121912722 - APOA1 P02647 VAR_000624 p.Arg197Cys Polymorphism rs28931573 - APOA1 P02647 VAR_000625 p.Glu222Lys Polymorphism rs121912717 - APOA1 P02647 VAR_014609 p.Arg184Pro Polymorphism rs5078 - APOA1 P02647 VAR_016189 p.Asp126His Polymorphism rs5077 - APOA1 P02647 VAR_017017 p.Thr92Ile Polymorphism rs766422306 - APOA1 P02647 VAR_021362 p.Val180Glu Polymorphism rs121912727 - APOA1 P02647 VAR_025445 p.Ala61Thr Polymorphism rs12718465 - APOA1 P02647 VAR_074073 p.Arg173Ser Unclassified - - 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 rs201939303 - 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.Glu140Lys 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 rs72654409 - 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 - - 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 - Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558] 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 rs72654423 - APOB P04114 VAR_067281 p.Ile4482Val Polymorphism - - APOB P04114 VAR_068911 p.Glu1670Asp Polymorphism - - APOB P04114 VAR_068912 p.Ile2037Asn Polymorphism - - APOB P04114 VAR_076538 p.Ala251Thr Polymorphism rs61741625 - APOB P04114 VAR_076539 p.Val952Leu Unclassified - Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558] APOBR Q0VD83 VAR_042432 p.Pro419Ala Polymorphism rs180743 - APOC1 P02654 VAR_014183 p.Ile16Met Polymorphism rs5112 - APOC1 P02654 VAR_029011 p.Thr71Ser Polymorphism rs142372275 - APOC2 P02655 VAR_000639 p.Lys41Thr Polymorphism rs120074114 - APOC2 P02655 VAR_000640 p.Trp48Arg Disease rs120074115 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 rs121918382 Hyperalphalipoproteinemia 2 (HALP2) [MIM:614028] APOC3 P02656 VAR_000644 p.Thr94Ala Polymorphism rs121918381 - 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 rs12691089 - 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 rs121918392 - APOE P02649 VAR_000646 p.Glu31Lys Disease rs201672011 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000647 p.Leu46Pro Unclassified rs769452 Familial hypercholesterolemia (FH) [MIM:143890] APOE P02649 VAR_000648 p.Thr60Ala Polymorphism rs28931576 - APOE P02649 VAR_000649 p.Gln99Lys Polymorphism rs1180612218- APOE P02649 VAR_000650 p.Pro102Arg Polymorphism rs11083750 - APOE P02649 VAR_000651 p.Ala117Thr Polymorphism rs28931577 - APOE P02649 VAR_000652 p.Cys130Arg Disease rs429358 Alzheimer disease 2 (AD2) [MIM:104310] APOE P02649 VAR_000652 p.Cys130Arg Disease rs429358 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000653 p.Gly145Asp Unclassified rs267606664 Familial hypercholesterolemia (FH) [MIM:143890] APOE P02649 VAR_000655 p.Arg152Gln Polymorphism rs28931578 - APOE P02649 VAR_000656 p.Arg154Ser Disease rs121918393 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000657 p.Arg154Cys Disease rs121918393 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000658 p.Arg160Cys Disease rs387906567 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000659 p.Arg163Cys Disease rs769455 Familial hypercholesterolemia (FH) [MIM:143890] APOE P02649 VAR_000659 p.Arg163Cys Disease rs769455 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000660 p.Arg163His Unclassified rs121918397 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000661 p.Lys164Gln Disease rs121918394 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000662 p.Lys164Glu Disease rs121918394 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000663 p.Ala170Pro Polymorphism rs267606662 - APOE P02649 VAR_000664 p.Arg176Cys Disease rs7412 Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] APOE P02649 VAR_000665 p.Arg242Gln Polymorphism rs267606663 - APOE P02649 VAR_000666 p.Arg246Cys Polymorphism rs121918395 - APOE P02649 VAR_000667 p.Val254Glu Polymorphism rs199768005 - APOE P02649 VAR_000669 p.Arg269Gly Polymorphism rs267606661 - APOE P02649 VAR_000670 p.Leu270Glu Unclassified - - APOE P02649 VAR_000671 p.Arg292His Polymorphism rs121918398 - APOE P02649 VAR_000672 p.Ser314Arg Polymorphism rs28931579 - APOE P02649 VAR_014114 p.Gln64His Polymorphism rs370594287 - APOE P02649 VAR_016789 p.Ala124Val Polymorphism rs937063425 - APOE P02649 VAR_042734 p.Arg43Cys Disease rs121918399 Lipoprotein glomerulopathy (LPG) [MIM:611771] APOE P02649 VAR_042735 p.Arg163Pro Disease rs121918397 Lipoprotein glomerulopathy (LPG) [MIM:611771] APOF Q13790 VAR_055520 p.Ala178Gly Polymorphism rs11575216 - APOH P02749 VAR_000673 p.Val266Leu Polymorphism rs4581 - APOH P02749 VAR_008169 p.Ser107Asn Polymorphism rs1801692 - APOH P02749 VAR_008170 p.Cys325Gly Polymorphism rs1801689 - APOH P02749 VAR_008171 p.Trp335Ser Polymorphism rs1801690 - APOH P02749 VAR_019155 p.Arg154His Polymorphism rs8178847 - APOH P02749 VAR_048316 p.Val5Ala Polymorphism rs3826358 - APOL1 O14791 VAR_011383 p.Glu150Lys Polymorphism rs2239785 - APOL1 O14791 VAR_011384 p.Met228Ile Polymorphism rs136175 - APOL1 O14791 VAR_011385 p.Arg255Lys Polymorphism rs136176 - APOL1 O14791 VAR_036568 p.Ile188Thr Unclassified - A breast cancer sample APOL1 O14791 VAR_046641 p.Asp337Asn Polymorphism rs16996616 - APOL1 O14791 VAR_061995 p.Ile384Met Disease rs60910145 Focal segmental glomerulosclerosis 4 (FSGS4) [MIM:612551] APOL1 O14791 VAR_063598 p.Ser342Gly Disease rs73885319 Focal segmental glomerulosclerosis 4 (FSGS4) [MIM:612551] APOL2 Q9BQE5 VAR_012978 p.Ile245Val Polymorphism rs132760 - APOL2 Q9BQE5 VAR_024366 p.Arg182Cys Polymorphism rs7285167 - APOL3 O95236 VAR_047488 p.Ala135Val Polymorphism rs6000152 - APOL3 O95236 VAR_053007 p.Ser39Arg Polymorphism rs132653 - APOL4 Q9BPW4 VAR_053008 p.Ile9Val Polymorphism rs132736 - APOL4 Q9BPW4 VAR_053009 p.Val12Leu Polymorphism rs80587 - APOL4 Q9BPW4 VAR_053010 p.Met159Val Polymorphism rs132700 - APOL4 Q9BPW4 VAR_059966 p.Arg223His Polymorphism rs2227168 - APOL4 Q9BPW4 VAR_059967 p.Ala319Glu Polymorphism rs6000173 - APOL4 Q9BPW4 VAR_059968 p.Ser326Leu Polymorphism rs6000172 - APOL5 Q9BWW9 VAR_020355 p.Thr272Met Polymorphism rs2076671 - APOL5 Q9BWW9 VAR_020356 p.Thr323Met Polymorphism rs2076672 - APOL5 Q9BWW9 VAR_020357 p.Ser406Cys Polymorphism rs2076673 - APOL5 Q9BWW9 VAR_053012 p.Glu81Lys Polymorphism rs5999985 - APOL6 Q9BWW8 VAR_053013 p.Asn173Lys Polymorphism rs5999923 - APOPT1 Q96IL0 VAR_023000 p.Pro27Ala Polymorphism rs2274268 - APOPT1 Q96IL0 VAR_033745 p.Asn88Ser Polymorphism rs35960830 - APPBP2 Q92624 VAR_052606 p.Ser561Asn Polymorphism rs34146848 - APPL1 Q9UKG1 VAR_035909 p.Glu643Gln Unclassified - A breast cancer sample APPL1 Q9UKG1 VAR_050958 p.Ala108Val Polymorphism rs4381906 - APPL1 Q9UKG1 VAR_050959 p.Glu700Gly Polymorphism rs11544593 - APPL1 Q9UKG1 VAR_075857 p.Asp94Asn Disease rs796065047 Maturity-onset diabetes of the young 14 (MODY14) [MIM:616511] APPL2 Q8NEU8 VAR_021505 p.Ala433Val Polymorphism rs2272495 - APP P05067 VAR_000016 p.Ala692Gly Disease rs63750671 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_000017 p.Glu693Gln Disease rs63750579 Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] APP P05067 VAR_000018 p.Ala713Val Unclassified rs1800557 - APP P05067 VAR_000019 p.Ala713Thr Disease rs63750066 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_000020 p.Ile716Val Disease rs63750399 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_000021 p.Val717Ile Disease rs63750264 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_000022 p.Val717Gly Disease rs63749964 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_000023 p.Val717Phe Disease rs63750264 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_010107 p.Glu665Asp Polymorphism rs63750363 - APP P05067 VAR_010108 p.Val715Met Disease rs63750734 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_010109 p.Leu723Pro Disease rs63751122 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_014215 p.Glu693Gly Disease rs63751039 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_014216 p.Glu693Lys Disease rs63750579 Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] APP P05067 VAR_014217 p.Asp694Asn Disease rs63749810 Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] APP P05067 VAR_014218 p.Thr714Ile Disease rs63750973 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_014219 p.Val717Leu Disease rs63750264 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_022315 p.Glu501Lys Polymorphism rs45588932 - APP P05067 VAR_032276 p.Leu705Val Disease rs63750921 Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] APP P05067 VAR_032277 p.Thr714Ala Disease rs63750643 Alzheimer disease 1 (AD1) [MIM:104300] APP P05067 VAR_044424 p.Asp678Asn Disease rs63750064 Alzheimer disease 1 (AD1) [MIM:104300] APRG1 Q8IVJ8 VAR_032538 p.His107Tyr Polymorphism rs17266511 - APRT P07741 VAR_006747 p.Asp65Val Disease rs104894506 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_006748 p.Leu110Pro Disease rs104894508 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_006749 p.Met136Thr Disease rs28999113 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_019055 p.Gln121Arg Polymorphism rs8191494 - APRT P07741 VAR_022608 p.Val150Phe Disease rs281860266 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_022609 p.Cys153Arg Disease - Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_069049 p.Leu33Pro Disease - Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_069050 p.Val84Met Disease rs200392753 Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APRT P07741 VAR_069051 p.Gly133Asp Disease - Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723] APTX Q7Z2E3 VAR_018794 p.Lys211Gln Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018795 p.Ala212Val Disease rs748165574 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018796 p.Arg213His Disease rs150886026 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018797 p.His215Arg Disease rs121908133 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018798 p.Pro220Leu Disease rs121908131 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018799 p.Val277Gly Disease rs121908132 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018800 p.Asp281Gly Disease - Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_018801 p.Trp293Arg Disease rs773393618 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] APTX Q7Z2E3 VAR_025365 p.Leu237Pro Disease rs267606665 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] AQP10 Q96PS8 VAR_033519 p.Arg15Gln Polymorphism rs6668968 - AQP10 Q96PS8 VAR_050063 p.His123Tyr Polymorphism rs6685323 - AQP11 Q8NBQ7 VAR_020446 p.Gly102Ser Polymorphism rs2276415 - AQP1 P29972 VAR_004400 p.Ala45Val Polymorphism rs28362692 - AQP1 P29972 VAR_013279 p.Pro38Leu Polymorphism rs104894004 - AQP1 P29972 VAR_022318 p.Gly165Asp Polymorphism rs28362731 - AQP2 P41181 VAR_004401 p.Gly64Arg Disease rs104894326 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_004402 p.Arg187Cys Disease rs104894328 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_004403 p.Ser216Pro Disease rs104894329 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015239 p.Leu22Val Disease rs104894336 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015240 p.Leu28Pro Disease - Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015241 p.Ala47Val Disease rs995684800 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015242 p.Asn68Ser Disease rs104894331 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015243 p.Val71Met Disease rs149659001 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015244 p.Thr125Met Disease rs104894333 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015245 p.Thr126Met Disease rs104894330 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015246 p.Ala147Thr Disease rs104894334 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015247 p.Val168Met Disease rs755694590 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015248 p.Gly175Arg Disease rs104894335 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015249 p.Cys181Trp Disease rs104894337 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015250 p.Pro185Ala Disease rs761713751 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015251 p.Ala190Thr Disease rs104894341 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015252 p.Val194Ile Polymorphism rs772051028 - AQP2 P41181 VAR_015253 p.Trp202Cys Disease - Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015254 p.Glu258Lys Disease rs104894332 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015255 p.Pro262Leu Disease rs104894339 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015256 p.Gln57Pro Disease rs28931580 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_015257 p.Gly100Val Disease rs104894338 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_037577 p.Leu121Phe Polymorphism rs11169226 - AQP2 P41181 VAR_062585 p.Ala70Asp Disease - Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062586 p.Gly100Arg Disease rs1303076207Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062587 p.Gly180Ser Disease rs147039983 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062588 p.Arg187His Disease rs193922495 Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062589 p.Arg254Leu Disease - Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_062590 p.Arg254Gln Disease - Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP2 P41181 VAR_071370 p.Thr108Met Disease rs1468828294Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800] AQP3 Q92482 VAR_025089 p.Val43Met Polymorphism rs34942735 - AQP5 P55064 VAR_070442 p.Ala38Glu Disease rs398123054 Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] AQP5 P55064 VAR_070443 p.Ile45Ser Disease rs398123055 Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] AQP5 P55064 VAR_070444 p.Asn123Asp Disease rs398123057 Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] AQP5 P55064 VAR_070445 p.Ile177Phe Disease rs398123056 Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] AQP5 P55064 VAR_070446 p.Arg188Cys Disease rs368292687 Keratoderma, palmoplantar, Bothnian type (PPKB) [MIM:600231] AQP6 Q13520 VAR_047233 p.Val234Ile Polymorphism rs17124220 - AQP7 O14520 VAR_061343 p.Leu38Val Polymorphism rs2381003 - AQP7 O14520 VAR_061344 p.Lys63Thr Polymorphism rs4008658 - AQP7 O14520 VAR_067253 p.Arg12Cys Polymorphism rs139297434 - AQP7 O14520 VAR_067254 p.Val59Leu Polymorphism rs4008659 - AQP7 O14520 VAR_067255 p.Gly264Val Polymorphism rs62542743 - AQP8 O94778 VAR_021933 p.Ala260Pro Polymorphism rs2287798 - AQP8 O94778 VAR_036484 p.Ile229Met Unclassified - A breast cancer sample AQP9 O43315 VAR_024538 p.Thr279Ala Polymorphism rs1867380 - ARAF P10398 VAR_040375 p.Met98Thr Polymorphism rs56197559 - ARAF P10398 VAR_040376 p.Gly331Cys Unclassified - A colorectal adenocarcinoma sample ARAF P10398 VAR_040377 p.Glu578Asp Polymorphism rs55852926 - ARAP1 Q96P48 VAR_055529 p.Arg358Gln Polymorphism rs34976830 - ARAP1 Q96P48 VAR_061023 p.Gln1047Glu Polymorphism rs56200889 - ARAP2 Q8WZ64 VAR_027952 p.Arg1523Gln Polymorphism rs4833069 - ARAP2 Q8WZ64 VAR_055530 p.Lys384Asn Polymorphism rs35468501 - ARAP2 Q8WZ64 VAR_055531 p.Phe1006Leu Polymorphism rs35218548 - ARAP3 Q8WWN8 VAR_036180 p.Arg471Trp Unclassified - A colorectal cancer sample ARAP3 Q8WWN8 VAR_036181 p.Ile1085Met Unclassified - A breast cancer sample ARAP3 Q8WWN8 VAR_036182 p.Thr1428Pro Unclassified rs61749636 A breast cancer sample ARAP3 Q8WWN8 VAR_048330 p.Asp218His Polymorphism rs1031904 - ARCN1 P48444 VAR_011788 p.Phe186Leu Polymorphism rs682327 - ARCN1 P48444 VAR_011789 p.Lys309Asn Polymorphism rs1063124 - AREG P15514 VAR_018918 p.Asp80Val Polymorphism rs373527160 - AREG P15514 VAR_018919 p.Tyr81Cys Polymorphism rs28364979 - ARF4 P18085 VAR_048317 p.Val68Ala Polymorphism rs11550597 - ARFGAP1 Q8N6T3 VAR_015187 p.Val184Met Polymorphism rs2273499 - ARFGAP2 Q8N6H7 VAR_030780 p.Ser411Asn Polymorphism rs3740691 - ARFGAP2 Q8N6H7 VAR_048321 p.Pro143Arg Polymorphism rs11542793 - ARFGAP2 Q8N6H7 VAR_048322 p.Arg339His Polymorphism rs34662994 - ARFGAP2 Q8N6H7 VAR_048323 p.Arg406Trp Polymorphism rs35950498 - ARFGAP3 Q9NP61 VAR_013447 p.Ser355Arg Polymorphism rs1018448 - ARFGAP3 Q9NP61 VAR_036177 p.Glu290Gly Unclassified - A breast cancer sample ARFGAP3 Q9NP61 VAR_055523 p.Ser231Gly Polymorphism rs9607957 - ARFGAP3 Q9NP61 VAR_055524 p.Ser370Gly Polymorphism rs16986123 - ARFGAP3 Q9NP61 VAR_055525 p.Gln468His Polymorphism rs35498349 - ARFGAP3 Q9NP61 VAR_055526 p.Ala482Thr Polymorphism rs36003980 - ARFGAP3 Q9NP61 VAR_055527 p.Gln490Arg Polymorphism rs11551619 - ARFGEF1 Q9Y6D6 VAR_028749 p.Asp273Tyr Polymorphism rs4321984 - ARFGEF1 Q9Y6D6 VAR_036155 p.Gly316Glu Unclassified - A colorectal cancer sample ARFGEF2 Q9Y6D5 VAR_028750 p.Ala527Val Polymorphism rs6063343 - ARFGEF2 Q9Y6D5 VAR_036156 p.Lys794Glu Unclassified - A breast cancer sample ARFGEF2 Q9Y6D5 VAR_037438 p.Glu209Lys Unclassified rs28937880 Periventricular nodular heterotopia 2 (PVNH2) [MIM:608097] ARFGEF2 Q9Y6D5 VAR_069404 p.Arg802Gln Polymorphism rs748482139 - ARFGEF3 Q5TH69 VAR_032154 p.Ser689Ala Polymorphism rs7764091 - ARFGEF3 Q5TH69 VAR_032155 p.Ala1571Thr Polymorphism rs3736706 - ARFGEF3 Q5TH69 VAR_032156 p.Lys2031Arg Polymorphism rs35964895 - ARFGEF3 Q5TH69 VAR_051925 p.Glu413Asp Polymorphism rs9376338 - ARFRP1 Q13795 VAR_036559 p.Leu108Val Unclassified - A breast cancer sample ARG1 P05089 VAR_000674 p.Gly235Arg Disease rs104893948 Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_000675 p.Thr290Ser Polymorphism rs104893942 - ARG1 P05089 VAR_015594 p.Ile11Thr Disease rs28941474 Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_015595 p.Gly138Val Disease rs104893943 Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_072164 p.Gly27Asp Disease rs1326930389Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_072165 p.Gly74Val Disease - Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_072166 p.Ala125Val Disease - Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_072167 p.Thr134Ile Disease - Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_072168 p.Arg180Thr Disease - Argininemia (ARGIN) [MIM:207800] ARG1 P05089 VAR_072169 p.Arg308Gln Disease rs377280518 Argininemia (ARGIN) [MIM:207800] ARG2 P78540 VAR_033520 p.Gly240Arg Polymorphism rs17104534 - ARGFX A6NJG6 VAR_037226 p.Arg145Gln Polymorphism rs9813391 - ARHGAP10 A1A4S6 VAR_035114 p.Met684Val Polymorphism rs2276932 - ARHGAP10 A1A4S6 VAR_049141 p.Pro488Ser Polymorphism rs17024215 - ARHGAP11A Q6P4F7 VAR_035546 p.Glu605Lys Unclassified - A breast cancer sample ARHGAP12 Q8IWW6 VAR_024454 p.Phe442Ser Polymorphism rs2808096 - ARHGAP18 Q8N392 VAR_060460 p.Thr23Ala Polymorphism rs3752536 - ARHGAP18 Q8N392 VAR_060461 p.Asn91Ser Polymorphism rs11544371 - ARHGAP18 Q8N392 VAR_060462 p.Gln165His Polymorphism rs11544372 - ARHGAP19 Q14CB8 VAR_031152 p.Gln305Arg Polymorphism rs17112598 - ARHGAP1 Q07960 VAR_049137 p.Arg369Cys Polymorphism rs11822837 - ARHGAP20 Q9P2F6 VAR_031489 p.Ala522Thr Polymorphism rs7936020 - ARHGAP20 Q9P2F6 VAR_031490 p.Gly632Asp Polymorphism rs17853925 - ARHGAP21 Q5T5U3 VAR_035187 p.Asn712Ser Polymorphism rs3748222 - ARHGAP21 Q5T5U3 VAR_035188 p.Thr1593Ala Polymorphism rs1133897 - ARHGAP21 Q5T5U3 VAR_035189 p.Val1610Ala Polymorphism rs1143051 - ARHGAP21 Q5T5U3 VAR_035190 p.Glu1628Lys Polymorphism rs1143057 - ARHGAP21 Q5T5U3 VAR_035191 p.Ala1726Thr Polymorphism rs1143075 - ARHGAP21 Q5T5U3 VAR_035192 p.Ser1949Asn Polymorphism rs1127893 - ARHGAP22 Q7Z5H3 VAR_031153 p.Thr410Lys Polymorphism rs1867586 - ARHGAP22 Q7Z5H3 VAR_031154 p.Arg612Cys Polymorphism rs3747853 - ARHGAP25 P42331 VAR_049142 p.Arg192Trp Polymorphism rs3749130 - ARHGAP25 P42331 VAR_049143 p.Arg555Ser Polymorphism rs4241344 - ARHGAP25 P42331 VAR_049144 p.Met556Thr Polymorphism rs10177248 - ARHGAP26 Q9UNA1 VAR_013623 p.Asn417Ser Disease rs121918546 Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] ARHGAP27 Q6ZUM4 VAR_038551 p.His889Gln Polymorphism rs117139057 - ARHGAP28 Q9P2N2 VAR_031155 p.Thr190Ser Polymorphism rs6506448 - ARHGAP28 Q9P2N2 VAR_031156 p.Gln727Pro Polymorphism rs1056408 - ARHGAP28 Q9P2N2 VAR_055833 p.Ile168Val Polymorphism rs2303978 - ARHGAP29 Q52LW3 VAR_038552 p.Ser552Cys Unclassified - A breast cancer sample ARHGAP29 Q52LW3 VAR_038553 p.Gly1255Asp Polymorphism rs1999272 - ARHGAP29 Q52LW3 VAR_049145 p.Pro1192Leu Polymorphism rs11165091 - ARHGAP30 Q7Z6I6 VAR_031157 p.Phe70Leu Polymorphism rs17854839 - ARHGAP30 Q7Z6I6 VAR_031158 p.Leu591Val Polymorphism rs3813609 - ARHGAP31 Q2M1Z3 VAR_039122 p.Pro221Leu Polymorphism rs751793 - ARHGAP31 Q2M1Z3 VAR_039123 p.Gly803Ser Polymorphism rs3732413 - ARHGAP31 Q2M1Z3 VAR_039124 p.Ile1115Leu Polymorphism rs12107254 - ARHGAP31 Q2M1Z3 VAR_039125 p.Val1366Met Polymorphism rs3796360 - ARHGAP31 Q2M1Z3 VAR_039126 p.Thr1380Ile Polymorphism rs9852894 - ARHGAP31 Q2M1Z3 VAR_065919 p.Thr727Ile Polymorphism rs539048828 - ARHGAP40 Q5TG30 VAR_042892 p.Gly133Arg Polymorphism rs6100455 - ARHGAP40 Q5TG30 VAR_042893 p.Arg413Leu Polymorphism rs6070872 - ARHGAP40 Q5TG30 VAR_042894 p.His463Asn Polymorphism rs16987460 - ARHGAP44 Q17R89 VAR_031159 p.Val463Met Polymorphism rs3213688 - ARHGAP45 Q92619 VAR_042693 p.Arg139His Polymorphism rs1801284 - ARHGAP45 Q92619 VAR_042694 p.Glu259Asp Polymorphism rs2074442 - ARHGAP45 Q92619 VAR_042695 p.Ser439Gly Polymorphism rs7251797 - ARHGAP45 Q92619 VAR_042696 p.Met515Ile Polymorphism rs36084354 - ARHGAP45 Q92619 VAR_042697 p.Ala886Pro Polymorphism rs34569196 - ARHGAP4 P98171 VAR_028413 p.Ala104Val Polymorphism rs5987182 - ARHGAP5 Q13017 VAR_043980 p.Ile17Val Polymorphism rs17386818 - ARHGAP6 O43182 VAR_024453 p.Asp791Glu Polymorphism rs1009758 - ARHGAP8 P85298 VAR_049138 p.Tyr172Cys Polymorphism rs16992915 - ARHGAP8 P85298 VAR_049139 p.Gly333Arg Polymorphism rs6007344 - ARHGAP8 P85298 VAR_049140 p.Pro415Leu Polymorphism rs2071762 - ARHGAP8 P85298 VAR_061182 p.Pro418Arg Polymorphism rs9614957 - ARHGAP9 Q9BRR9 VAR_055830 p.Arg50Gly Polymorphism rs33927108 - ARHGAP9 Q9BRR9 VAR_055831 p.Arg137Cys Polymorphism rs3802989 - ARHGAP9 Q9BRR9 VAR_055832 p.Ser370Ala Polymorphism rs11544238 - ARHGEF10L Q9HCE6 VAR_044183 p.Asp69Asn Polymorphism rs35497285 - ARHGEF10L Q9HCE6 VAR_044184 p.Ala96Val Unclassified rs1421731181A colorectal cancer sample ARHGEF10L Q9HCE6 VAR_044185 p.Arg991Trp Polymorphism rs6695710 - ARHGEF10L Q9HCE6 VAR_044186 p.Ile1219Val Polymorphism rs2270976 - ARHGEF10L Q9HCE6 VAR_061794 p.Ser47Asn Polymorphism rs34417109 - ARHGEF10 O15013 VAR_019118 p.Thr357Ile Disease rs28940281 Slowed nerve conduction velocity (SNCV) [MIM:608236] ARHGEF10 O15013 VAR_038603 p.Val700Ile Polymorphism rs2294039 - ARHGEF10 O15013 VAR_057188 p.Val725Ile Polymorphism rs2294039 - ARHGEF10 O15013 VAR_073288 p.Asn227His Unclassified rs767902219 - ARHGEF11 O15085 VAR_024285 p.His1427Arg Polymorphism rs945508 - ARHGEF11 O15085 VAR_061795 p.Ser1416Gly Polymorphism rs868188 - ARHGEF12 Q9NZN5 VAR_020191 p.Tyr973Phe Polymorphism rs2305013 - ARHGEF15 O94989 VAR_054215 p.Gly155Val Polymorphism rs17857129 - ARHGEF15 O94989 VAR_054216 p.Leu277Pro Polymorphism rs871841 - ARHGEF15 O94989 VAR_054217 p.Ser831Pro Polymorphism rs3744647 - ARHGEF15 O94989 VAR_057189 p.Pro73Ser Polymorphism rs9890841 - ARHGEF15 O94989 VAR_077835 p.Arg604Cys Unclassified rs587777166 - ARHGEF16 Q5VV41 VAR_059796 p.Val137Met Polymorphism rs3806164 - ARHGEF16 Q5VV41 VAR_059797 p.His370Tyr Polymorphism rs2185639 - ARHGEF16 Q5VV41 VAR_061796 p.Glu681Lys Polymorphism rs56309807 - ARHGEF17 Q96PE2 VAR_032132 p.Gly450Glu Polymorphism rs3741150 - ARHGEF17 Q96PE2 VAR_032133 p.Ala1465Asp Polymorphism rs2298808 - ARHGEF18 Q6ZSZ5 VAR_044066 p.Gln889Arg Polymorphism rs2287918 - ARHGEF18 Q6ZSZ5 VAR_044067 p.Arg940Gln Polymorphism rs2287920 - ARHGEF18 Q6ZSZ5 VAR_063099 p.Asn1207Ser Polymorphism rs9329368 - ARHGEF18 Q6ZSZ5 VAR_078919 p.Thr458Ala Disease rs987233144 Retinitis pigmentosa 78 (RP78) [MIM:617433] ARHGEF19 Q8IW93 VAR_031950 p.Gly163Arg Polymorphism rs221058 - ARHGEF19 Q8IW93 VAR_031951 p.Glu238Gln Polymorphism rs221057 - ARHGEF1 Q92888 VAR_033521 p.Pro375Leu Polymorphism rs2303797 - ARHGEF1 Q92888 VAR_035969 p.Met165Val Unclassified - A colorectal cancer sample ARHGEF25 Q86VW2 VAR_039402 p.Cys253Tyr Polymorphism rs17857333 - ARHGEF25 Q86VW2 VAR_039403 p.Gly397Arg Polymorphism rs17854492 - ARHGEF25 Q86VW2 VAR_039404 p.Gln506Arg Polymorphism rs1564374 - ARHGEF26 Q96DR7 VAR_039425 p.Val29Leu Polymorphism rs12493885 - ARHGEF26 Q96DR7 VAR_039426 p.Phe203Ser Polymorphism rs13096373 - ARHGEF26 Q96DR7 VAR_058205 p.Leu60Pro Polymorphism rs12497267 - ARHGEF28 Q8N1W1 VAR_039657 p.Arg98Met Polymorphism rs12659447 - ARHGEF28 Q8N1W1 VAR_039658 p.Trp225Arg Polymorphism rs7714670 - ARHGEF28 Q8N1W1 VAR_039659 p.Pro284Gln Polymorphism rs6453022 - ARHGEF28 Q8N1W1 VAR_039660 p.Ser544Leu Polymorphism rs2973571 - ARHGEF28 Q8N1W1 VAR_039661 p.Arg585Lys Polymorphism rs2973566 - ARHGEF28 Q8N1W1 VAR_039662 p.His780Asn Polymorphism rs2973558 - ARHGEF28 Q8N1W1 VAR_039663 p.Pro1548Ser Polymorphism rs17634865 - ARHGEF28 Q8N1W1 VAR_039664 p.His1640Gln Polymorphism rs1478453 - ARHGEF37 A1IGU5 VAR_043579 p.Met421Leu Polymorphism rs4629585 - ARHGEF37 A1IGU5 VAR_043580 p.Pro489Leu Polymorphism rs9324624 - ARHGEF37 A1IGU5 VAR_043581 p.Ser518Arg Polymorphism rs7732714 - ARHGEF37 A1IGU5 VAR_043582 p.Pro586Thr Polymorphism rs3733662 - ARHGEF37 A1IGU5 VAR_043583 p.Met604Val Polymorphism rs1135093 - ARHGEF38 Q9NXL2 VAR_038928 p.Lys67Asn Unclassified - A breast cancer sample ARHGEF38 Q9NXL2 VAR_038929 p.Met88Val Polymorphism rs2276970 - ARHGEF39 Q8N4T4 VAR_032876 p.His306Arg Polymorphism rs2297879 - ARHGEF39 Q8N4T4 VAR_061801 p.Cys5Phe Polymorphism rs45567235 - ARHGEF3 Q9NR81 VAR_021935 p.Lys13Arg Polymorphism rs3732507 - ARHGEF3 Q9NR81 VAR_021936 p.Leu335Val Polymorphism rs3772219 - ARHGEF40 Q8TER5 VAR_038061 p.Val956Leu Polymorphism rs7143633 - ARHGEF40 Q8TER5 VAR_038062 p.Leu1189Ser Polymorphism rs1958396 - ARHGEF40 Q8TER5 VAR_038063 p.Met1312Thr Polymorphism rs943992 - ARHGEF40 Q8TER5 VAR_060541 p.Thr1418Pro Polymorphism rs17855344 - ARHGEF4 Q9NR80 VAR_035970 p.Lys100Arg Unclassified - A breast cancer sample ARHGEF4 Q9NR80 VAR_035971 p.Thr441Arg Unclassified - A breast cancer sample ARHGEF4 Q9NR80 VAR_057187 p.Asp33His Polymorphism rs10188052 - ARHGEF6 Q15052 VAR_051981 p.Gln297His Polymorphism rs5974620 - ARHGEF7 Q14155 VAR_064694 p.Thr790Ala Unclassified - - ARHGEF9 O43307 VAR_028752 p.Gly55Ala Disease rs121918361 Epileptic encephalopathy, early infantile, 8 (EIEE8) [MIM:300607] ARHGEF9 O43307 VAR_069370 p.Glu401Lys Disease - - ARHGEF9 O43307 VAR_072742 p.Arg290His Disease - Epileptic encephalopathy, early infantile, 8 (EIEE8) [MIM:300607] ARID1A O14497 VAR_064695 p.Arg1020Lys Unclassified - - ARID1A O14497 VAR_064696 p.Leu2089Pro Unclassified - - ARID1A O14497 VAR_068021 p.Arg1658Trp Unclassified - - ARID1A O14497 VAR_068022 p.Ile1907Phe Polymorphism rs139230162 - ARID1A O14497 VAR_068023 p.Gly2087Arg Unclassified - - ARID1A O14497 VAR_076938 p.Pro120Ser Polymorphism rs571264557 - ARID1B Q8NFD5 VAR_036257 p.Gly814Ala Unclassified - A breast cancer sample ARID1B Q8NFD5 VAR_067664 p.Gln82His Polymorphism - - ARID1B Q8NFD5 VAR_067665 p.Gly246Ser Polymorphism rs375160616 - ARID1B Q8NFD5 VAR_067670 p.Ala363Val Polymorphism rs748273011 - ARID1B Q8NFD5 VAR_067671 p.Gly396Ala Polymorphism rs760718156 - ARID1B Q8NFD5 VAR_067672 p.Met429Val Polymorphism rs199948752 - ARID1B Q8NFD5 VAR_067674 p.Ser497Asn Polymorphism rs764716697 - ARID1B Q8NFD5 VAR_067675 p.Met531Thr Polymorphism rs141260832 - ARID1B Q8NFD5 VAR_067676 p.Gln876Glu Polymorphism rs138254872 - ARID1B Q8NFD5 VAR_067677 p.Gln980Leu Polymorphism rs139620600 - ARID1B Q8NFD5 VAR_067678 p.Val1092Ile Polymorphism rs775526039 - ARID1B Q8NFD5 VAR_067679 p.Gln1249Pro Polymorphism rs768013849 - ARID1B Q8NFD5 VAR_067680 p.Gly1271Glu Polymorphism rs149389876 - ARID1B Q8NFD5 VAR_067681 p.Gly1303Arg Polymorphism rs199674889 - ARID1B Q8NFD5 VAR_067682 p.Ser1321Asn Polymorphism rs142808724 - ARID1B Q8NFD5 VAR_067683 p.Pro1411Ser Polymorphism - - ARID1B Q8NFD5 VAR_067684 p.Gln1466Lys Polymorphism - - ARID1B Q8NFD5 VAR_067685 p.Arg1506His Polymorphism rs1449208173- ARID1B Q8NFD5 VAR_067686 p.Thr1573Met Polymorphism rs777745107 - ARID1B Q8NFD5 VAR_067687 p.Asn1659Ser Polymorphism rs140177120 - ARID1B Q8NFD5 VAR_067689 p.Lys1773Arg Polymorphism rs574141489 - ARID1B Q8NFD5 VAR_067690 p.Asp1851Asn Polymorphism rs200305796 - ARID1B Q8NFD5 VAR_067691 p.Lys1898Arg Polymorphism rs758204258 - ARID1B Q8NFD5 VAR_067692 p.Lys1954Arg Polymorphism rs756220726 - ARID1B Q8NFD5 VAR_067693 p.Gln2163Arg Polymorphism - - ARID1B Q8NFD5 VAR_077456 p.Ser771Leu Unclassified - - ARID1B Q8NFD5 VAR_077457 p.Gly1436Ala Disease - - ARID1B Q8NFD5 VAR_077458 p.Pro1563Leu Unclassified rs1455506883- ARID1B Q8NFD5 VAR_077459 p.Asp1987Tyr Disease - - ARID1B Q8NFD5 VAR_078697 p.Pro488Arg Unclassified rs769085274 - ARID1B Q8NFD5 VAR_078698 p.Pro1413Ser Unclassified rs1051017338- ARID3A Q99856 VAR_033203 p.Pro36His Polymorphism rs17857499 - ARID3A Q99856 VAR_033204 p.Lys320Glu Polymorphism rs17857501 - ARID3A Q99856 VAR_033205 p.Gly556Ser Polymorphism rs1051505 - ARID3C A6NKF2 VAR_043033 p.Arg310Gln Polymorphism rs12337871 - ARID3C A6NKF2 VAR_043034 p.Cys335Gly Polymorphism rs3808869 - ARID4A P29374 VAR_031566 p.His412Pro Polymorphism rs34982206 - ARID4A P29374 VAR_031567 p.Asn724Ser Polymorphism rs2230098 - ARID4A P29374 VAR_031568 p.Thr779Ala Polymorphism rs1051858 - ARIH2 O95376 VAR_054105 p.Glu24Lys Polymorphism rs11507 - ARIH2 O95376 VAR_054106 p.Glu29Asp Polymorphism rs34221642 - ARL11 Q969Q4 VAR_023742 p.Ser22Leu Polymorphism rs147389782 - ARL11 Q969Q4 VAR_023743 p.Pro131Leu Polymorphism rs147120792 - ARL11 Q969Q4 VAR_023744 p.Cys148Arg Polymorphism rs3803185 - ARL11 Q969Q4 VAR_023745 p.Glu164Lys Polymorphism rs146850453 - ARL11 Q969Q4 VAR_048318 p.Leu120Met Polymorphism rs35712316 - ARL13B Q3SXY8 VAR_048319 p.Thr348Ser Polymorphism rs33944211 - ARL13B Q3SXY8 VAR_054371 p.Arg79Gln Disease rs121912606 Joubert syndrome 8 (JBTS8) [MIM:612291] ARL13B Q3SXY8 VAR_054372 p.Arg200Cys Disease rs121912608 Joubert syndrome 8 (JBTS8) [MIM:612291] ARL13B Q3SXY8 VAR_069190 p.Arg390Leu Unclassified - - ARL13B Q3SXY8 VAR_077496 p.Tyr86Cys Disease rs863225430 Joubert syndrome 8 (JBTS8) [MIM:612291] ARL14EP Q8N8R7 VAR_033740 p.Thr180Pro Polymorphism rs7940297 - ARL14 Q8N4G2 VAR_055521 p.Asp83Asn Polymorphism rs35634980 - ARL14 Q8N4G2 VAR_055522 p.Pro117Thr Polymorphism rs35633732 - ARL16 Q0P5N6 VAR_059129 p.Ser10Arg Polymorphism rs8066889 - ARL17A Q8IVW1 VAR_017170 p.Leu170Ile Polymorphism - - ARL2BP Q9Y2Y0 VAR_053904 p.Glu87Lys Polymorphism rs7198865 - ARL2BP Q9Y2Y0 VAR_070227 p.Met45Arg Disease rs398123053 Retinitis pigmentosa 82 with or without situs inversus (RP82) [MIM:615434] ARL2 P36404 VAR_028056 p.Val141Ala Polymorphism rs664226 - ARL3 P36405 VAR_014869 p.Leu34Met Polymorphism rs1141895 - ARL3 P36405 VAR_081202 p.Arg149Cys Disease - Joubert syndrome 35 (JBTS35) [MIM:618161] ARL3 P36405 VAR_081203 p.Arg149His Disease - Joubert syndrome 35 (JBTS35) [MIM:618161] ARL4D P49703 VAR_028205 p.Thr91Asn Polymorphism rs1059968 - ARL6IP4 Q66PJ3 VAR_058333 p.Lys286Arg Unclassified - - ARL6IP4 Q66PJ3 VAR_059583 p.Pro149Ala Polymorphism rs12825243 - ARL6 Q9H0F7 VAR_027643 p.Thr31Met Disease rs104893680 Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] ARL6 Q9H0F7 VAR_027644 p.Thr31Arg Disease rs104893680 Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] ARL6 Q9H0F7 VAR_027645 p.Gly169Ala Disease rs104893679 Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] ARL6 Q9H0F7 VAR_027646 p.Leu170Trp Disease rs104893681 Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] ARL6 Q9H0F7 VAR_064184 p.Ala89Val Disease rs587777805 Retinitis pigmentosa 55 (RP55) [MIM:613575] ARL6 Q9H0F7 VAR_071405 p.Ile94Thr Disease rs771054395 Bardet-Biedl syndrome 3 (BBS3) [MIM:600151] ARMC10 Q8N2F6 VAR_034681 p.Pro190Ser Polymorphism rs17849774 - ARMC2 Q8NEN0 VAR_031948 p.Met166Thr Polymorphism rs9386758 - ARMC2 Q8NEN0 VAR_031949 p.Asn433Asp Polymorphism rs17852775 - ARMC3 Q5W041 VAR_050669 p.Glu345Gly Polymorphism rs16922864 - ARMC3 Q5W041 VAR_050670 p.Ser608Pro Polymorphism rs11013233 - ARMC3 Q5W041 VAR_050671 p.Arg626Gln Polymorphism rs10828395 - ARMC4 Q5T2S8 VAR_033514 p.Asn935Lys Polymorphism rs35181927 - ARMC4 Q5T2S8 VAR_050672 p.Ile343Thr Polymorphism rs4405206 - ARMC4 Q5T2S8 VAR_050673 p.Ala1041Ser Polymorphism rs3737184 - ARMC4 Q5T2S8 VAR_070228 p.Leu927Trp Disease rs587777047 Ciliary dyskinesia, primary, 23 (CILD23) [MIM:615451] ARMC5 Q96C12 VAR_050674 p.Ile170Val Polymorphism rs35923277 - ARMC5 Q96C12 VAR_072352 p.Phe14Tyr Polymorphism rs151069962 - ARMC5 Q96C12 VAR_072353 p.Ser115Pro Polymorphism rs199693319 - ARMC5 Q96C12 VAR_072354 p.Leu156Phe Disease rs114930262 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_072355 p.Arg315Gln Disease rs1415974570ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_072356 p.Arg315Trp Disease - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_072357 p.Leu548Pro Unclassified rs587777661 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_072358 p.Arg593Trp Disease rs587777662 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_072359 p.Gly798Ala Polymorphism rs115611533 - ARMC5 Q96C12 VAR_072360 p.Arg898Trp Disease rs587777659 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079097 p.Gly56Ala Polymorphism rs780112907 - ARMC5 Q96C12 VAR_079100 p.Cys139Arg Disease - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079102 p.Leu318Val Unclassified rs1293014259ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079103 p.Gly323Ala Unclassified rs35461188 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079104 p.Leu331Pro Disease - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079105 p.Arg362Leu Disease - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079106 p.Arg362Trp Disease rs1385397608ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079108 p.Leu365Pro Disease rs587777663 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079110 p.Leu394Pro Unclassified - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079112 p.Pro483Leu Polymorphism rs552657393 - ARMC5 Q96C12 VAR_079113 p.Arg502His Polymorphism rs200054015 - ARMC5 Q96C12 VAR_079114 p.Pro507Leu Polymorphism rs142376949 - ARMC5 Q96C12 VAR_079115 p.Leu580Pro Unclassified - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079117 p.Thr643Met Unclassified rs370836071 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079118 p.Cys657Arg Disease - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079119 p.Cys657Trp Disease - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079120 p.Ile664Ser Disease - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079123 p.Pro731Arg Disease rs200951744 ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079124 p.Tyr736Ser Disease - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079125 p.Leu754Pro Disease - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079128 p.His808Pro Disease - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC5 Q96C12 VAR_079129 p.Pro826Thr Unclassified - ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954] ARMC9 Q7Z3E5 VAR_031170 p.Leu108Phe Polymorphism rs11558175 - ARMC9 Q7Z3E5 VAR_031171 p.Ile209Thr Polymorphism rs16827883 - ARMC9 Q7Z3E5 VAR_031172 p.Arg222His Polymorphism rs3752780 - ARMC9 Q7Z3E5 VAR_056739 p.Ile180Val Polymorphism rs1626450 - ARMC9 Q7Z3E5 VAR_069411 p.Asp330Asn Polymorphism - - ARMC9 Q7Z3E5 VAR_080497 p.Gly69Arg Unclassified rs750247691 Joubert syndrome 30 (JBTS30) [MIM:617622] ARMC9 Q7Z3E5 VAR_080499 p.Arg343Cys Unclassified rs759799287 Joubert syndrome 30 (JBTS30) [MIM:617622] ARMC9 Q7Z3E5 VAR_080500 p.Arg446Cys Unclassified rs753432312 Joubert syndrome 30 (JBTS30) [MIM:617622] ARMC9 Q7Z3E5 VAR_080501 p.Gly492Arg Unclassified - Joubert syndrome 30 (JBTS30) [MIM:617622] ARMC9 Q7Z3E5 VAR_080502 p.Pro520Leu Unclassified rs1114167449Joubert syndrome 30 (JBTS30) [MIM:617622] ARMCX4 Q5H9R4 VAR_024761 p.Arg188Gly Polymorphism rs5951332 - ARMH4 Q86TY3 VAR_027782 p.Thr96Ile Polymorphism rs3829765 - ARMH4 Q86TY3 VAR_027783 p.Ala391Val Polymorphism rs1018504 - ARMH4 Q86TY3 VAR_027784 p.Val528Phe Polymorphism rs12886921 - ARMH4 Q86TY3 VAR_027785 p.Gln613Glu Polymorphism rs2273442 - ARMS2 P0C7Q2 VAR_044330 p.Arg3His Polymorphism rs10490923 - ARMS2 P0C7Q2 VAR_044331 p.Ala69Ser Polymorphism rs10490924 - ARMT1 Q9H993 VAR_025791 p.Pro77Arg Polymorphism rs17850732 - ARMT1 Q9H993 VAR_053090 p.Lys73Asn Polymorphism rs35036943 - ARMT1 Q9H993 VAR_053091 p.Gly150Glu Polymorphism rs35734927 - ARMT1 Q9H993 VAR_053092 p.Ser154Ala Polymorphism rs34437617 - ARMT1 Q9H993 VAR_053093 p.His161Pro Polymorphism rs36037706 - ARMT1 Q9H993 VAR_053094 p.Ile264Val Polymorphism rs35989216 - ARMT1 Q9H993 VAR_053095 p.Ala317Thr Polymorphism rs35972078 - ARNT2 Q9HBZ2 VAR_049538 p.Gly679Ser Polymorphism rs4072568 - ARNT2 Q9HBZ2 VAR_076841 p.Arg46Trp Polymorphism rs140468271 - ARNT2 Q9HBZ2 VAR_076842 p.Arg107His Polymorphism rs371290912 - ARNT2 Q9HBZ2 VAR_076843 p.Arg402Gln Polymorphism rs141193900 - ARNT2 Q9HBZ2 VAR_076844 p.Trp410Arg Polymorphism rs150964641 - ARNTL2 Q8WYA1 VAR_030158 p.Asn340Ser Polymorphism rs1037921 - ARNTL2 Q8WYA1 VAR_030159 p.Ala574Val Polymorphism rs11049005 - ARNT P27540 VAR_014819 p.Asp511Asn Polymorphism rs1805133 - ARNT P27540 VAR_018906 p.Asp517Glu Polymorphism rs10305741 - ARNT P27540 VAR_020189 p.Pro706Leu Polymorphism rs2275237 - ARNT P27540 VAR_024280 p.Arg430Gln Polymorphism rs2229175 - AR P10275 VAR_004679 p.Glu2Lys Disease rs104894742 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004680 p.Leu54Ser Unclassified - Prostate cancer AR P10275 VAR_004681 p.Leu57Gln Unclassified rs78686797 Prostate cancer AR P10275 VAR_004684 p.Arg608Gln Disease rs137852573 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004684 p.Arg608Gln Unclassified rs137852573 Breast cancer AR P10275 VAR_004685 p.Arg609Lys Disease rs137852576 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004685 p.Arg609Lys Unclassified rs137852576 Breast cancer AR P10275 VAR_004686 p.Ala646Asp Polymorphism rs1800053 - AR P10275 VAR_004687 p.Ile665Asn Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004687 p.Ile665Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004688 p.Leu678Pro Disease rs137852579 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004690 p.Asp696His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004691 p.Asp696Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004692 p.Asp696Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004693 p.Ser704Gly Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004693 p.Ser704Gly Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004694 p.Leu708Arg Disease rs137852585 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004695 p.Val731Met Unclassified rs137852571 Prostate cancer AR P10275 VAR_004696 p.Asp733Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004697 p.Asp733Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004698 p.Met743Ile Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004699 p.Gly744Val Disease rs137852600 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004699 p.Gly744Val Disease rs137852600 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004700 p.Met750Val Disease rs1085307685Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004700 p.Met750Val Disease rs1085307685Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004701 p.Gly751Asp Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004702 p.Arg753Gln Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004703 p.Phe755Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004704 p.Leu763Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004705 p.Tyr764Cys Disease rs137852567 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004705 p.Tyr764Cys Unclassified rs137852567 Prostate cancer AR P10275 VAR_004707 p.Ala766Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004708 p.Arg775His Disease rs137852572 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004708 p.Arg775His Disease rs137852572 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004709 p.Arg775Cys Disease rs137852562 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004710 p.Arg780Trp Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004711 p.Met781Ile Disease rs137852589 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004711 p.Met781Ile Disease rs137852589 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004712 p.Cys785Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004713 p.Met788Val Disease rs137852570 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004714 p.Phe795Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004715 p.Gln799Glu Disease rs137852591 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004715 p.Gln799Glu Disease rs137852591 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004715 p.Gln799Glu Unclassified rs137852591 Prostate cancer AR P10275 VAR_004716 p.Met808Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004717 p.Met808Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004718 p.Ser815Asn Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004718 p.Ser815Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004719 p.Arg832Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004720 p.Arg832Gln Disease rs1386577803Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004721 p.Arg841Cys Disease rs137852577 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004722 p.Arg841Gly Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004723 p.Arg841His Disease rs9332969 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004724 p.Ile843Thr Disease rs9332970 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004725 p.Arg856Cys Disease rs886041132 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004726 p.Arg856His Disease rs9332971 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004727 p.Asp865Asn Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004728 p.Val867Glu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004729 p.Val867Leu Disease rs137852564 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004730 p.Val867Met Disease rs137852564 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004730 p.Val867Met Unclassified rs137852564 Prostate cancer AR P10275 VAR_004731 p.Ile870Met Disease rs137852574 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_004732 p.Thr878Ala Unclassified rs137852578 Prostate cancer AR P10275 VAR_004733 p.Pro893Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004734 p.Met896Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004735 p.Leu908Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_004736 p.Pro914Ser Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009224 p.Gln196Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009225 p.Leu257Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009226 p.Pro392Arg Disease rs773996740 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009227 p.Pro392Ser Disease rs201934623 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009228 p.Gln445Arg Unclassified rs1355285524Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009229 p.Arg841Ser Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009711 p.Gln64Arg Unclassified - Prostate cancer AR P10275 VAR_009712 p.Gln114His Unclassified - Prostate cancer AR P10275 VAR_009713 p.Lys182Arg Unclassified - Prostate cancer AR P10275 VAR_009714 p.Ser207Arg Polymorphism rs374549047 - AR P10275 VAR_009715 p.Gly216Arg Polymorphism rs199554641 - AR P10275 VAR_009716 p.Met268Thr Unclassified - Prostate cancer AR P10275 VAR_009717 p.Pro271Ser Unclassified - Prostate cancer AR P10275 VAR_009718 p.Pro342Leu Unclassified rs138454018 Prostate cancer AR P10275 VAR_009719 p.Gly492Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009720 p.Asp529Gly Unclassified - Prostate cancer AR P10275 VAR_009721 p.Leu548Phe Disease rs139524801 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009722 p.Pro549Ser Disease rs137852588 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009723 p.Cys560Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009725 p.Gly569Val Unclassified - - AR P10275 VAR_009726 p.Gly569Trp Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009727 p.Tyr572Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009728 p.Ala574Asp Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009729 p.Leu575Pro Unclassified - Prostate cancer AR P10275 VAR_009730 p.Thr576Ala Unclassified - Prostate cancer AR P10275 VAR_009731 p.Cys577Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009732 p.Cys577Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009733 p.Cys580Phe Disease rs137852586 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009734 p.Cys580Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009735 p.Lys581Arg Unclassified - Prostate cancer AR P10275 VAR_009736 p.Val582Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009737 p.Phe583Ser Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009738 p.Phe583Tyr Disease rs137852587 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009740 p.Arg586Lys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009741 p.Ala587Val Unclassified - Prostate cancer AR P10275 VAR_009742 p.Ala588Ser Unclassified - Prostate cancer AR P10275 VAR_009743 p.Ala597Thr Disease rs137852569 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009744 p.Ser598Gly Disease rs142280455 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009745 p.Ser598Thr Unclassified - - AR P10275 VAR_009746 p.Cys602Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009747 p.Asp605Tyr Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009748 p.Asn611Thr Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009749 p.Cys612Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009751 p.Arg616His Disease rs754201976 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009751 p.Arg616His Disease rs754201976 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009752 p.Arg616Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009753 p.Leu617Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009754 p.Leu617Arg Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009755 p.Arg618Pro Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009755 p.Arg618Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009756 p.Cys620Tyr Unclassified - Prostate cancer AR P10275 VAR_009757 p.Arg630Gln Unclassified rs868669253 Prostate cancer AR P10275 VAR_009758 p.Lys631Thr Unclassified - Prostate cancer AR P10275 VAR_009760 p.Ser648Asn Unclassified rs137852584 Prostate cancer AR P10275 VAR_009761 p.Gln671Arg Unclassified - Prostate cancer AR P10275 VAR_009762 p.Pro672His Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009763 p.Ile673Thr Unclassified - Prostate cancer AR P10275 VAR_009764 p.Glu682Lys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009765 p.Gly684Ala Unclassified - Prostate cancer AR P10275 VAR_009766 p.Val685Ile Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009767 p.Cys687Arg Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009768 p.Ala688Val Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009769 p.Gly689Glu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009771 p.Leu701Met Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009772 p.Leu702Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009773 p.Leu702His Disease rs864622007 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009773 p.Leu702His Unclassified rs864622007 Prostate cancer AR P10275 VAR_009774 p.Ser703Ala Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009775 p.Ser704Cys Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009776 p.Asn706Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009777 p.Gly709Ala Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009778 p.Gly709Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009779 p.Arg711Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009780 p.Leu713Phe Disease rs137852595 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009781 p.Val716Met Unclassified rs1340026226Prostate cancer AR P10275 VAR_009782 p.Lys718Glu Unclassified - Prostate cancer AR P10275 VAR_009783 p.Lys721Glu Unclassified - Prostate cancer AR P10275 VAR_009784 p.Ala722Thr Unclassified rs137852583 Prostate cancer AR P10275 VAR_009785 p.Leu723Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009786 p.Pro724Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009787 p.Gly725Asp Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009787 p.Gly725Asp Unclassified - Prostate cancer AR P10275 VAR_009788 p.Phe726Leu Unclassified - - AR P10275 VAR_009789 p.Arg727Leu Unclassified rs137852593 Prostate cancer AR P10275 VAR_009790 p.Asn728Lys Disease rs768869912 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009791 p.Leu729Ser Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009792 p.Gln734His Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009793 p.Ile738Thr Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009794 p.Trp742Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009795 p.Met743Val Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009796 p.Leu745Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009796 p.Leu745Phe Unclassified - Prostate cancer AR P10275 VAR_009797 p.Met746Thr Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009798 p.Val747Met Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009799 p.Ala749Asp Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009800 p.Ala749Thr Unclassified - Prostate cancer AR P10275 VAR_009801 p.Ala749Val Unclassified - Prostate cancer AR P10275 VAR_009802 p.Met750Ile Unclassified - Prostate cancer AR P10275 VAR_009803 p.Gly751Ser Unclassified - Prostate cancer AR P10275 VAR_009804 p.Trp752Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009805 p.Phe755Leu Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009805 p.Phe755Leu Unclassified - Prostate cancer AR P10275 VAR_009806 p.Thr756Ala Unclassified - Prostate cancer AR P10275 VAR_009807 p.Asn757Ser Disease rs141425171 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009808 p.Val758Ala Unclassified - Prostate cancer AR P10275 VAR_009809 p.Asn759Thr Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009810 p.Ser760Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009811 p.Ser760Pro Unclassified - Prostate cancer AR P10275 VAR_009812 p.Tyr764His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009813 p.Phe765Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009814 p.Ala766Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009815 p.Pro767Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009816 p.Asp768Glu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009817 p.Leu769Pro Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009818 p.Asn772His Disease rs886041352 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009819 p.Glu773Ala Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009820 p.Glu773Gly Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009821 p.Ser783Asn Unclassified - Prostate cancer AR P10275 VAR_009822 p.Arg789Ser Disease rs1254203917Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009823 p.Leu791Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009824 p.Ser792Pro Unclassified - Prostate cancer AR P10275 VAR_009825 p.Glu794Asp Polymorphism rs1414341563- AR P10275 VAR_009826 p.Cys807Tyr Disease rs1064793480Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009827 p.Met808Thr Disease rs137852592 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009828 p.Leu813Phe Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009829 p.Gly821Ala Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009830 p.Leu822Val Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009831 p.Leu831Pro Unclassified - Prostate cancer AR P10275 VAR_009832 p.Tyr835Cys Disease rs1057521122Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009833 p.Ile842Ser Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009834 p.Arg847Gly Unclassified - Prostate cancer AR P10275 VAR_009835 p.Arg855Lys Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009836 p.Phe857Leu Disease rs137852598 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009837 p.Leu864Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009838 p.Asp865Gly Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009839 p.Ser866Pro Disease rs137852597 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009840 p.Ala871Gly Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009841 p.Ala871Val Disease rs143040492 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009842 p.Arg872Gly Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009843 p.His875Tyr Unclassified rs137852581 Prostate cancer AR P10275 VAR_009844 p.Thr878Ser Unclassified rs137852580 Prostate cancer AR P10275 VAR_009845 p.Leu881Gln Unclassified - Prostate cancer AR P10275 VAR_009846 p.Leu882Val Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009847 p.Met887Val Disease rs755226547 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009848 p.Val890Met Disease rs886041133 Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009848 p.Val890Met Disease rs886041133 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009849 p.Asp891Asn Unclassified - Prostate cancer AR P10275 VAR_009850 p.Phe892Leu Unclassified - Prostate cancer AR P10275 VAR_009851 p.Ala897Thr Unclassified - Prostate cancer AR P10275 VAR_009852 p.Ile899Thr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009853 p.Gln903Arg Unclassified rs137852582 Prostate cancer AR P10275 VAR_009854 p.Val904Met Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009855 p.Pro905His Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009856 p.Pro905Ser Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009857 p.Gly910Glu Unclassified - Prostate cancer AR P10275 VAR_009858 p.Gly910Arg Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009859 p.Lys911Arg Unclassified - Prostate cancer AR P10275 VAR_009860 p.Val912Leu Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_009861 p.Phe917Leu Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009862 p.His918Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_009863 p.Gln920Arg Unclassified - Prostate cancer AR P10275 VAR_013474 p.Pro683Thr Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_013475 p.Asn706Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_013476 p.Gln712Glu Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_013477 p.Gly744Glu Disease rs137852600 Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_013478 p.Phe828Val Disease - Androgen insensitivity, partial (PAIS) [MIM:312300] AR P10275 VAR_013479 p.His875Arg Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] AR P10275 VAR_013480 p.Asp880Tyr Disease - Androgen insensitivity syndrome (AIS) [MIM:300068] ARPC1B O15143 VAR_014477 p.Lys37Asn Polymorphism rs1045012 - ARPC1B O15143 VAR_080353 p.Ala105Val Unclassified - Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease (PLTEID) [MIM:617718] ARPC1B O15143 VAR_080354 p.Ala238Thr Unclassified rs147238850 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease (PLTEID) [MIM:617718] ARR3 P36575 VAR_025520 p.Leu44Phe Polymorphism rs11548182 - ARR3 P36575 VAR_080595 p.Leu80Pro Unclassified - Myopia 26, X-linked, female-limited (MYP26) [MIM:301010] ARR3 P36575 VAR_080597 p.Ala298Asp Unclassified - Myopia 26, X-linked, female-limited (MYP26) [MIM:301010] ARRDC1 Q8N5I2 VAR_048335 p.Gly363Cys Polymorphism rs35018943 - ARRDC2 Q8TBH0 VAR_026895 p.Arg181His Polymorphism rs17852061 - ARRDC2 Q8TBH0 VAR_026896 p.Arg192His Polymorphism rs17852062 - ARRDC2 Q8TBH0 VAR_026897 p.Ala244Thr Polymorphism rs8110271 - ARRDC2 Q8TBH0 VAR_026898 p.Leu396Pro Polymorphism rs7259041 - ARRDC4 Q8NCT1 VAR_026899 p.Thr79Ala Polymorphism rs12101554 - ARRDC4 Q8NCT1 VAR_026900 p.Pro347Ser Polymorphism rs17856817 - ARRDC4 Q8NCT1 VAR_026901 p.Ser358Pro Polymorphism rs2130882 - ARSA P15289 VAR_007243 p.Leu76Pro Polymorphism rs199476362 - ARSA P15289 VAR_007244 p.Pro82Leu Disease rs6151411 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007245 p.Arg84Gln Disease rs74315458 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007246 p.Gly86Asp Disease rs74315460 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007247 p.Ser95Asn Disease rs199476363 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007248 p.Ser96Phe Disease rs74315456 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007249 p.Ser96Leu Disease rs199476371 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007250 p.Gly99Asp Disease rs74315455 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007251 p.Gly119Arg Disease rs199476364 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007252 p.Gly122Ser Disease rs74315461 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007253 p.Leu135Pro Disease rs121434215 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007254 p.Pro136Leu Disease rs74315462 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007255 p.Asp152Tyr Disease rs199476365 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007256 p.Gly154Asp Disease rs74315463 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007257 p.Pro155Arg Disease rs74315464 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007258 p.Pro167Arg Disease rs74315465 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007259 p.Asp169Asn Disease rs74315466 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007260 p.Cys172Tyr Disease rs199476381 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007261 p.Ile179Ser Disease rs74315457 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007262 p.Trp193Cys Polymorphism rs6151415 - ARSA P15289 VAR_007263 p.Tyr201Cys Disease rs199476345 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007264 p.Ala212Val Disease rs74315467 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007265 p.Ala224Val Disease rs74315468 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007266 p.Pro231Thr Disease rs74315469 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007267 p.Arg244Cys Disease rs74315470 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007268 p.Arg244His Disease rs199476366 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007269 p.Gly245Arg Disease rs74315471 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007270 p.Ser250Tyr Disease rs199476367 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007271 p.Thr274Met Disease rs74315472 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007272 p.Arg288Cys Disease rs74315473 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007273 p.Ser295Tyr Disease rs74315474 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007274 p.Gly309Ser Disease rs74315459 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007275 p.Arg311Gln Disease rs199476382 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007276 p.Ala314Thr Disease rs199476368 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007277 p.Asp335Val Disease rs74315475 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007278 p.Asn350Ser Polymorphism rs2071421 - ARSA P15289 VAR_007279 p.Lys367Asn Disease rs199476369 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007280 p.Arg370Gln Disease rs74315477 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007281 p.Arg370Trp Disease rs74315476 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007282 p.Pro377Leu Disease rs74315478 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007283 p.Glu382Lys Disease rs74315479 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007284 p.Arg384Cys Disease rs199476370 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007285 p.Arg390Gln Disease rs199476391 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007286 p.Arg390Trp Disease rs74315480 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007287 p.Thr391Ser Polymorphism rs743616 - ARSA P15289 VAR_007288 p.His397Tyr Disease rs199476376 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007291 p.Pro426Leu Disease rs28940893 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_007292 p.Ala464Val Polymorphism - - ARSA P15289 VAR_007293 p.Arg496His Polymorphism rs6151428 - ARSA P15289 VAR_008132 p.Cys300Phe Disease rs74315484 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_008133 p.Pro425Thr Disease rs74315485 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_018838 p.Phe356Val Polymorphism rs6151422 - ARSA P15289 VAR_018839 p.Asn440Ser Polymorphism rs6151427 - ARSA P15289 VAR_054164 p.Ala18Asp Disease rs199476339 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054165 p.Asp29Asn Disease rs199476346 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054166 p.Asp30His Disease rs199476340 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054167 p.Gly32Ser Disease rs199476350 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054168 p.Leu68Pro Disease rs199476351 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054169 p.Arg84Trp Disease rs199476352 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054170 p.Pro94Ala Disease rs199476353 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054171 p.Gly99Val Disease rs74315455 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054172 p.Pro136Ser Disease rs60504011 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054174 p.Arg143Gly Disease rs199476373 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054175 p.Pro148Leu Disease rs199476375 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054176 p.Gln153His Disease rs199476377 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054177 p.Pro155Leu Disease rs74315464 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054178 p.Cys156Arg Disease rs199476348 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054179 p.Leu181Gln Disease rs199476378 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054180 p.Gln190His Disease rs199476372 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054181 p.Pro191Thr Disease rs199476374 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054182 p.Ala212Pro Disease rs199476341 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054183 p.Arg217His Disease rs148403406 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054184 p.Phe219Val Disease rs199476383 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054185 p.His227Tyr Disease rs199476354 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054186 p.Phe247Ser Disease rs199476384 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054187 p.Glu253Lys Disease rs74315483 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054188 p.Asp255His Disease rs80338819 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054189 p.Asp281Tyr Disease rs199476386 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054190 p.Asn282Ser Disease rs199476342 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054191 p.Thr286Pro Disease rs28940894 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054192 p.Arg288His Disease rs199476355 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054193 p.Gly293Asp Disease rs199476387 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054194 p.Gly293Ser Disease rs199476349 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054195 p.Cys294Tyr Disease rs199476347 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054196 p.Leu298Ser Disease rs199476389 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054197 p.Lys302Asn Disease rs199476343 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054198 p.Tyr306His Disease rs199476379 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054199 p.Gly308Asp Disease rs199476356 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054200 p.Gly308Val Disease rs199476356 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054201 p.Glu312Asp Disease rs199476390 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054202 p.Gly325Ser Disease rs148092995 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054203 p.Thr327Ile Disease - Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054204 p.Tyr376Asn Disease rs199476344 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054205 p.Asp381Glu Disease rs6151425 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054206 p.Thr408Ile Disease rs28940895 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054207 p.Thr409Ile Disease rs74315481 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054208 p.Leu428Pro Disease rs199476392 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054209 p.Tyr429Ser Disease rs199476380 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054210 p.Ala469Gly Disease rs199476385 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_054211 p.Cys489Gly Disease rs199476388 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_067414 p.Leu52Pro Disease rs199476357 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_067415 p.His138Asp Disease rs199476358 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_067416 p.Thr304Met Disease rs199476359 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_067417 p.Glu307Lys Disease rs199476360 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSA P15289 VAR_067418 p.Ser406Gly Disease rs199476361 Metachromatic leukodystrophy (MLD) [MIM:250100] ARSB P15848 VAR_007294 p.Thr92Met Disease rs751010538 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007295 p.Arg95Gln Disease rs118203942 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007296 p.Cys117Arg Disease rs118203939 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007297 p.Gly137Val Disease rs118203938 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007298 p.Arg152Trp Disease rs991104525 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007299 p.Arg160Gln Disease rs1196325597Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007300 p.Tyr210Cys Disease rs118203943 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007301 p.Leu236Pro Disease rs118203940 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007302 p.Gly302Arg Disease rs779378413 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007303 p.Val376Met Polymorphism rs1071598 - ARSB P15848 VAR_007304 p.His393Pro Disease rs118203944 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007305 p.Cys405Tyr Disease rs118203941 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_007306 p.Leu498Pro Disease rs774358117 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_016061 p.Val358Met Polymorphism rs1065757 - ARSB P15848 VAR_019017 p.Ser65Phe Disease - Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019019 p.Pro116His Disease rs775780931 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019020 p.Met142Ile Disease - Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019021 p.Gly144Arg Disease rs746206847 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019022 p.Trp146Leu Disease - Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019023 p.Trp146Arg Disease - Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019024 p.Trp146Ser Disease - Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019025 p.Cys192Arg Disease - Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019026 p.Gln239Arg Disease - Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019027 p.Trp312Cys Disease - Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019028 p.Arg315Gln Disease rs727503809 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019029 p.Leu321Pro Disease - Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019030 p.Ser384Asn Polymorphism rs25414 - ARSB P15848 VAR_019031 p.Phe399Leu Disease rs200793396 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019032 p.Arg484Gly Disease rs201101343 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019033 p.Cys521Tyr Disease - Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_019034 p.Pro531Arg Disease - Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSB P15848 VAR_061883 p.Val358Leu Polymorphism rs1065757 - ARSB P15848 VAR_080270 p.Leu82Arg Disease rs749465732 Mucopolysaccharidosis 6 (MPS6) [MIM:253200] ARSD P51689 VAR_052508 p.Ser224Cys Polymorphism rs211653 - ARSD P51689 VAR_052509 p.Val500Ile Polymorphism rs2229557 - ARSD P51689 VAR_052510 p.Met564Thr Polymorphism rs2228431 - ARSE P51690 VAR_007307 p.Arg12Ser Disease rs122460151 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSE P51690 VAR_007308 p.Arg111Pro Disease rs122460153 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSE P51690 VAR_007309 p.Gly117Arg Disease rs122460152 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSE P51690 VAR_007310 p.Gly137Val Disease rs80338711 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSE P51690 VAR_007311 p.Gly245Arg Disease rs122460154 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSE P51690 VAR_007312 p.Cys492Tyr Disease rs122460155 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSE P51690 VAR_023570 p.Ile80Asn Disease - Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSE P51690 VAR_023571 p.Thr481Met Disease rs80338713 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSE P51690 VAR_023572 p.Pro578Ser Disease rs28935474 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] ARSE P51690 VAR_037974 p.Arg183His Polymorphism rs34412194 - ARSE P51690 VAR_037975 p.Gly424Ser Polymorphism rs35143646 - ARSF P54793 VAR_058846 p.His527Tyr Polymorphism rs1052638 - ARSG Q96EG1 VAR_052511 p.Ala11Val Polymorphism rs8074806 - ARSG Q96EG1 VAR_052512 p.Thr236Ser Polymorphism rs1558876 - ARSG Q96EG1 VAR_052513 p.Trp274Arg Polymorphism rs1558878 - ARSG Q96EG1 VAR_052514 p.Arg385His Polymorphism rs9972951 - ARSG Q96EG1 VAR_074038 p.Arg326Gly Polymorphism rs144503106 - ARSG Q96EG1 VAR_074039 p.Arg398Trp Polymorphism rs11657051 - ARSG Q96EG1 VAR_074040 p.Thr444Met Polymorphism rs62000424 - ARSG Q96EG1 VAR_074041 p.Glu481Lys Polymorphism rs370852507 - ARSG Q96EG1 VAR_074042 p.Ile493Thr Polymorphism rs61999318 - ARSJ Q5FYB0 VAR_052515 p.Ser565Arg Polymorphism rs17046588 - ARSK Q6UWY0 VAR_052516 p.Gln525Arg Polymorphism rs17084927 - ART1 P52961 VAR_034125 p.Pro105Leu Polymorphism rs35123761 - ART1 P52961 VAR_034126 p.Pro126Arg Polymorphism rs35619488 - ART1 P52961 VAR_053526 p.Leu257Pro Polymorphism rs2280134 - ART3 Q13508 VAR_060072 p.Ser363Leu Polymorphism rs1128864 - ART3 Q13508 VAR_081146 p.Pro334Ser Unclassified - - ART4 Q93070 VAR_013707 p.Gly108Val Polymorphism rs28362797 - ART4 Q93070 VAR_013708 p.Thr117Ile Polymorphism rs28362798 - ART4 Q93070 VAR_013709 p.Asn265Asp Polymorphism rs11276 - ART4 Q93070 VAR_013710 p.Leu300Val Polymorphism rs3088190 - ART4 Q93070 VAR_022266 p.Asp135Glu Polymorphism rs28362799 - ART4 Q93070 VAR_022267 p.Thr189Met Polymorphism rs28362800 - ARTN Q5T4W7 VAR_026718 p.Gln19Arg Polymorphism rs2242637 - ARV1 Q9H2C2 VAR_033525 p.Gly101Glu Polymorphism rs35764859 - ARV1 Q9H2C2 VAR_077051 p.Gly189Arg Disease rs730882241 Epileptic encephalopathy, early infantile, 38 (EIEE38) [MIM:617020] ARVCF O00192 VAR_020408 p.Val175Ala Polymorphism rs2240717 - ARVCF O00192 VAR_024692 p.Arg906Gln Polymorphism rs165815 - ARVCF O00192 VAR_033529 p.Pro220Leu Polymorphism rs2073748 - ARVCF O00192 VAR_033530 p.Arg909Trp Polymorphism rs34687532 - ARVCF O00192 VAR_033531 p.Arg909Gln Polymorphism rs34638476 - ARVCF O00192 VAR_033532 p.Arg912Trp Polymorphism rs34445280 - ARVCF O00192 VAR_053812 p.Arg539Gln Polymorphism rs16982871 - ARX Q96QS3 VAR_015178 p.Arg332His Disease rs111033612 Lissencephaly, X-linked 2 (LISX2) [MIM:300215] ARX Q96QS3 VAR_015179 p.Leu343Gln Disease rs104894741 Lissencephaly, X-linked 2 (LISX2) [MIM:300215] ARX Q96QS3 VAR_015180 p.Pro353Leu Disease rs104894743 Epileptic encephalopathy, early infantile, 1 (EIEE1) [MIM:308350] ARX Q96QS3 VAR_015669 p.Leu33Pro Disease rs28936077 Mental retardation, X-linked, ARX-related (MRXARX) [MIM:300419] ARX Q96QS3 VAR_015671 p.Gly286Ser Disease rs28935479 Mental retardation, X-linked, ARX-related (MRXARX) [MIM:300419] ARX Q96QS3 VAR_033260 p.Arg332Pro Disease - Lissencephaly, X-linked 2 (LISX2) [MIM:300215] ARX Q96QS3 VAR_033261 p.Thr333Asn Disease rs104894745 Agenesis of the corpus callosum, with abnormal genitalia (ACCAG) [MIM:300004] ARX Q96QS3 VAR_033262 p.Pro353Arg Disease - Lissencephaly, X-linked 2 (LISX2) [MIM:300215] ARX Q96QS3 VAR_033263 p.Ala521Thr Disease rs746120093 Lissencephaly, X-linked 2 (LISX2) [MIM:300215] AS3MT Q9HBK9 VAR_027392 p.Arg173Trp Polymorphism rs35232887 - AS3MT Q9HBK9 VAR_027393 p.Met287Thr Polymorphism rs11191439 - AS3MT Q9HBK9 VAR_027394 p.Thr306Ile Polymorphism rs34556438 - ASAH1 Q13510 VAR_008860 p.Val72Met Polymorphism rs1071645 - ASAH1 Q13510 VAR_008861 p.Ile93Val Polymorphism rs1049874 - ASAH1 Q13510 VAR_008862 p.Thr222Lys Disease rs137853593 Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021579 p.Tyr36Cys Disease rs137853595 Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021581 p.Val97Glu Disease - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021582 p.Glu138Val Disease rs137853594 Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021583 p.Gly235Arg Disease - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021584 p.Arg254Gly Disease - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021585 p.Asn320Asp Disease rs137853596 Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021586 p.Pro362Arg Disease - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_021587 p.Val369Ile Polymorphism rs17636067 - ASAH1 Q13510 VAR_038166 p.Gln22His Disease - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_038167 p.His23Asp Disease - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_038168 p.Asp124Glu Polymorphism rs2472205 - ASAH1 Q13510 VAR_038169 p.Leu182Val Disease rs137853597 Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_038170 p.Val246Ala Polymorphism rs10103355 - ASAH1 Q13510 VAR_057979 p.Ala70Val Polymorphism rs10103355 - ASAH1 Q13510 VAR_057980 p.Val88Met Polymorphism rs1071645 - ASAH1 Q13510 VAR_068722 p.Thr42Met Disease rs145873635 Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950] ASAH1 Q13510 VAR_071994 p.Val97Gly Disease - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_071995 p.Gly168Trp Disease - Farber lipogranulomatosis (FRBRL) [MIM:228000] ASAH1 Q13510 VAR_072247 p.Lys152Asn Disease rs200455852 Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950] ASAH2 Q9NR71 VAR_027064 p.Thr51Ala Polymorphism rs7067625 - ASAH2 Q9NR71 VAR_027065 p.Ala346Ser Polymorphism rs993869 - ASAP1 Q9ULH1 VAR_055528 p.Ile728Val Polymorphism rs966185 - ASAP2 O43150 VAR_020307 p.Glu748Asp Polymorphism rs2715860 - ASAP3 Q8TDY4 VAR_035612 p.Ala617Thr Unclassified - A colorectal cancer sample ASAP3 Q8TDY4 VAR_048295 p.Glu377Ala Polymorphism rs16828486 - ASB10 Q8WXI3 VAR_022090 p.Arg453Cys Polymorphism rs3800791 - ASB10 Q8WXI3 VAR_069867 p.Thr48Ser Unclassified rs151344615 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069868 p.Gly65Glu Unclassified rs104886491 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069869 p.Val67Met Unclassified rs151344616 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069870 p.Arg72His Unclassified rs104886488 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069871 p.Asp88Val Polymorphism rs151344617 - ASB10 Q8WXI3 VAR_069872 p.Asp91Tyr Polymorphism rs104886490 - ASB10 Q8WXI3 VAR_069873 p.Arg94Gln Unclassified rs147737381 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069874 p.Asp97Glu Unclassified rs151344619 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069875 p.Ala172Val Polymorphism rs151344604 - ASB10 Q8WXI3 VAR_069876 p.Arg183Cys Unclassified rs151344605 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069877 p.Arg189Trp Polymorphism rs104886473 - ASB10 Q8WXI3 VAR_069878 p.Ala197Val Unclassified rs151344607 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069879 p.Val207Leu Unclassified rs104886474 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069880 p.Arg237Gly Polymorphism rs61735708 - ASB10 Q8WXI3 VAR_069881 p.Arg272His Unclassified rs140602973 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069882 p.Gln295Leu Unclassified rs151344609 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069883 p.Arg304Cys Polymorphism rs61735130 - ASB10 Q8WXI3 VAR_069884 p.Ala320Thr Unclassified rs151344610 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069885 p.Thr329Met Polymorphism rs104886481 - ASB10 Q8WXI3 VAR_069886 p.His332Gln Unclassified rs104886482 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069887 p.His356Tyr Unclassified rs151344611 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069888 p.Arg360His Unclassified rs151344612 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB10 Q8WXI3 VAR_069889 p.Arg372Cys Polymorphism rs62489646 - ASB10 Q8WXI3 VAR_069890 p.Pro402Thr Polymorphism rs919533 - ASB10 Q8WXI3 VAR_069891 p.Ser440Gly Unclassified rs104886487 Glaucoma 1, open angle, F (GLC1F) [MIM:603383] ASB11 Q8WXH4 VAR_048286 p.Asp249Asn Polymorphism rs34025595 - ASB11 Q8WXH4 VAR_048287 p.Ser263Gly Polymorphism rs35859007 - ASB11 Q8WXH4 VAR_069428 p.Ser165Leu Polymorphism rs144572145 - ASB15 Q8WXK1 VAR_060466 p.Pro57Leu Polymorphism rs6962756 - ASB15 Q8WXK1 VAR_060467 p.Gly357Ala Polymorphism rs4731112 - ASB16-AS1 Q495Z4 VAR_032127 p.Ser32Arg Polymorphism rs7217858 - ASB16-AS1 Q495Z4 VAR_061623 p.Cys114Arg Polymorphism rs7212573 - ASB16 Q96NS5 VAR_059127 p.Thr240Ile Polymorphism rs7224330 - ASB16 Q96NS5 VAR_064697 p.Thr173Pro Unclassified - - ASB17 Q8WXJ9 VAR_024174 p.Ser2Asn Polymorphism rs3795251 - ASB17 Q8WXJ9 VAR_048288 p.Val101Ala Polymorphism rs1796814 - ASB18 Q6ZVZ8 VAR_037331 p.Ala127Pro Polymorphism rs7588748 - ASB18 Q6ZVZ8 VAR_048289 p.Ala104Thr Polymorphism rs6756597 - ASB18 Q6ZVZ8 VAR_048290 p.His407Asn Polymorphism rs10177957 - ASB18 Q6ZVZ8 VAR_059128 p.Gly261Ser Polymorphism rs6431437 - ASB2 Q96Q27 VAR_022089 p.Pro160Ser Polymorphism rs2295213 - ASB4 Q9Y574 VAR_033512 p.Val17Leu Polymorphism rs35047380 - ASCC1 Q8N9N2 VAR_061278 p.Asp34Asn Polymorphism rs11558719 - ASCC1 Q8N9N2 VAR_066588 p.Asn318Ser Polymorphism rs146370051 - ASCC2 Q9H1I8 VAR_019464 p.Arg509Gln Polymorphism rs4823054 - ASCC2 Q9H1I8 VAR_025512 p.Asp407His Polymorphism rs28265 - ASCC2 Q9H1I8 VAR_025513 p.Pro423Ser Polymorphism rs36571 - ASCC2 Q9H1I8 VAR_025514 p.Arg639Leu Polymorphism rs6006259 - ASCC2 Q9H1I8 VAR_050675 p.Arg96Cys Polymorphism rs1894473 - ASCC2 Q9H1I8 VAR_050676 p.Val123Ile Polymorphism rs11549795 - ASCC2 Q9H1I8 VAR_050677 p.Asp546Gly Polymorphism rs34833047 - ASCC2 Q9H1I8 VAR_050678 p.Glu588Lys Polymorphism rs34062345 - ASCC3 Q8N3C0 VAR_034859 p.Leu146Phe Polymorphism rs9390698 - ASCC3 Q8N3C0 VAR_034860 p.Val1050Ile Polymorphism rs9497983 - ASCC3 Q8N3C0 VAR_034861 p.Cys1800Trp Polymorphism rs35011147 - ASCC3 Q8N3C0 VAR_034862 p.Val1930Met Polymorphism rs3213542 - ASCC3 Q8N3C0 VAR_034863 p.Ser1995Cys Polymorphism rs240780 - ASCC3 Q8N3C0 VAR_034864 p.Tyr2176Cys Polymorphism rs240768 - ASCC3 Q8N3C0 VAR_049339 p.Glu344Lys Polymorphism rs6918004 - ASCC3 Q8N3C0 VAR_049340 p.Asn478Ser Polymorphism rs7750940 - ASCC3 Q8N3C0 VAR_049341 p.Val1425Ala Polymorphism rs17246013 - ASCC3 Q8N3C0 VAR_049342 p.Arg1497Thr Polymorphism rs17305382 - ASCC3 Q8N3C0 VAR_061212 p.Ser1016Cys Polymorphism rs57534235 - ASCL1 P50553 VAR_013179 p.Glu158Gly Polymorphism rs1803157 - ASCL3 Q9NQ33 VAR_055948 p.Arg54Leu Polymorphism rs4909951 - ASGR2 P07307 VAR_068747 p.Gly85Arg Polymorphism rs2304978 - ASH1L Q9NR48 VAR_028949 p.Thr1771Ala Polymorphism rs4971053 - ASH1L Q9NR48 VAR_055905 p.Ser1416Pro Polymorphism rs13373934 - ASH1L Q9NR48 VAR_069405 p.Ser277Gly Polymorphism rs186255422 - ASH1L Q9NR48 VAR_069406 p.Ala724Ser Unclassified rs1293246328Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_069407 p.Lys972Arg Unclassified - Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_069408 p.Tyr1276His Unclassified rs539982914 Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_069409 p.Cys1775Trp Unclassified rs753734834 Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_069410 p.Asp2853Gly Unclassified - Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_080559 p.Val2085Ile Unclassified rs749494995 Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_080561 p.Arg2396His Unclassified rs753029013 Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH1L Q9NR48 VAR_080562 p.Ala2791Pro Disease - Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796] ASH2L Q9UBL3 VAR_050679 p.Ser478Phe Polymorphism rs34167006 - ASIC2 Q16515 VAR_052036 p.Asp354Gly Polymorphism rs16967895 - ASIC3 Q9UHC3 VAR_052037 p.Asn228Ser Polymorphism rs1864545 - ASIC4 Q96FT7 VAR_052038 p.Pro614Gln Polymorphism rs6436153 - ASIC4 Q96FT7 VAR_052039 p.Arg616Leu Polymorphism rs11689281 - ASIC4 Q96FT7 VAR_059806 p.Val619Ala Polymorphism rs11695248 - ASIP P42127 VAR_005003 p.Gln61Pro Polymorphism rs1129414 - ASIP P42127 VAR_022125 p.Val13Ala Polymorphism rs2296151 - ASL P04424 VAR_000676 p.Arg95Cys Disease rs28940585 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_000677 p.Arg111Trp Disease rs138310841 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_000678 p.Arg193Gln Disease rs373697663 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_000679 p.Gln286Arg Disease rs28941472 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_017572 p.Val178Met Disease rs28941473 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_017573 p.Arg379Cys Disease rs28940287 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_017574 p.Arg385Cys Disease rs28940286 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_036281 p.Thr181Ser Unclassified - A breast cancer sample ASL P04424 VAR_036282 p.Gly200Val Unclassified - A breast cancer sample ASL P04424 VAR_043106 p.Asp31Asn Disease rs754995756 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043107 p.Arg113Gln Disease rs752783461 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043108 p.Arg186Gln Disease rs752397242 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043109 p.Arg236Trp Disease rs761268464 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043110 p.Val335Leu Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043111 p.Met382Arg Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_043112 p.Arg456Trp Disease rs759396688 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072186 p.Val70Ala Disease rs1027739421Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072187 p.Arg94Cys Disease rs374304304 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072188 p.Arg94His Disease rs777437569 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072189 p.Arg95His Disease rs150244667 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072190 p.Ala104Val Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072191 p.Asp120Glu Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072192 p.Leu121His Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072193 p.Arg126Trp Disease rs201962738 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072194 p.Arg146Trp Disease rs199938613 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072195 p.Pro156Arg Disease rs769017508 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072196 p.His160Asn Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072197 p.Pro166His Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072198 p.Arg168His Disease rs727503811 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072199 p.Ser170Asn Disease rs1180650883Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072200 p.Leu180Arg Disease rs1057141162Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072201 p.Arg182Gln Disease rs751590073 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072202 p.Arg191Trp Disease rs143508372 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072203 p.Arg193Trp Disease rs1428029508Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072204 p.Ala205Val Disease rs796051925 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072205 p.Arg213Gln Disease rs1449589636Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072206 p.Leu227Pro Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072207 p.Ser229Arg Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072208 p.Ser229Thr Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072209 p.Asp231Glu Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072210 p.Asp237Asn Disease rs552951774 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072211 p.Met256Thr Disease rs149057077 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072212 p.Leu262Pro Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072213 p.Leu295Pro Disease rs1369337876Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072214 p.Gly301Arg Disease rs1161412459Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072215 p.Arg306Trp Disease rs868834862 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072216 p.Asp324Ala Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072217 p.Gln326Leu Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072218 p.Leu343Phe Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072219 p.Leu343Pro Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072220 p.Met368Val Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072221 p.Lys380Glu Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072222 p.Arg385His Disease rs746120802 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072223 p.Arg385Leu Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072224 p.His388Gln Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072225 p.Ser433Arg Disease rs796051928 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072226 p.Val434Leu Disease rs773071023 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072227 p.Ser447Asn Disease rs373519615 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_072228 p.Arg456Gln Disease rs767271619 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_075551 p.Glu73Lys Disease - Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASL P04424 VAR_075552 p.Arg297Gln Disease rs750431938 Argininosuccinic aciduria (ARGINSA) [MIM:207900] ASMTL O95671 VAR_054802 p.Val458Met Polymorphism rs4503285 - ASMTL O95671 VAR_054803 p.Arg541Lys Polymorphism rs1127297 - ASMT P46597 VAR_045991 p.Asn17Lys Polymorphism rs17149149 - ASMT P46597 VAR_069111 p.Asn13His Polymorphism rs121918819 - ASMT P46597 VAR_069112 p.Glu61Gln Polymorphism rs121918823 - ASMT P46597 VAR_069113 p.Lys81Glu Polymorphism rs117343570 - ASMT P46597 VAR_069114 p.Arg111Lys Polymorphism - - ASMT P46597 VAR_069115 p.Arg115Trp Polymorphism rs201053197 - ASMT P46597 VAR_069116 p.Gly151Ser Polymorphism rs192710293 - ASMT P46597 VAR_069117 p.Val166Ile Polymorphism rs373339042 - ASMT P46597 VAR_069118 p.Val171Met Polymorphism rs121918820 - ASMT P46597 VAR_069119 p.Val179Gly Polymorphism - - ASMT P46597 VAR_069120 p.Asp210Gly Polymorphism rs121918824 - ASMT P46597 VAR_069121 p.Ile211Met Polymorphism rs201316181 - ASMT P46597 VAR_069122 p.Thr217Met Polymorphism rs148036160 - ASMT P46597 VAR_069123 p.Lys219Arg Polymorphism rs121918825 - ASMT P46597 VAR_069124 p.Pro243Leu Polymorphism rs121918826 - ASMT P46597 VAR_069125 p.Tyr248His Polymorphism - - ASMT P46597 VAR_069126 p.Ile269Met Polymorphism rs146121655 - ASMT P46597 VAR_069127 p.Cys273Ser Polymorphism rs121918827 - ASMT P46597 VAR_069128 p.Gly278Ala Polymorphism - - ASMT P46597 VAR_069129 p.Glu288Asp Polymorphism rs121918821 - ASMT P46597 VAR_069130 p.Arg291Gln Polymorphism rs121918828 - ASMT P46597 VAR_069131 p.Leu298Phe Polymorphism rs121918822 - ASMT P46597 VAR_069132 p.Val305Met Polymorphism - - ASNA1 O43681 VAR_018844 p.Asn332Ser Polymorphism rs8177499 - ASNSD1 Q9NWL6 VAR_039876 p.Gly190Arg Polymorphism rs1437880 - ASNSD1 Q9NWL6 VAR_039877 p.Met434Thr Polymorphism rs35137531 - ASNS P08243 VAR_023443 p.Val210Glu Polymorphism rs1049674 - ASNS P08243 VAR_070896 p.Ala6Glu Disease rs398122975 Asparagine synthetase deficiency (ASNSD) [MIM:615574] ASNS P08243 VAR_070897 p.Phe362Val Disease rs398122973 Asparagine synthetase deficiency (ASNSD) [MIM:615574] ASNS P08243 VAR_070898 p.Arg550Cys Disease rs398122974 Asparagine synthetase deficiency (ASNSD) [MIM:615574] ASPA P45381 VAR_004995 p.Ile143Thr Disease rs777936704 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_004996 p.Cys152Arg Disease rs104894548 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_004998 p.Gly274Arg Disease rs761064915 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_004999 p.Glu285Ala Disease rs28940279 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_005000 p.Phe295Ser Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_005001 p.Ala305Glu Disease rs28940574 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016778 p.His21Pro Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016779 p.Ala57Thr Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016780 p.Arg168His Disease rs770706390 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016781 p.Pro181Thr Disease rs786204572 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016782 p.Glu24Gly Disease rs104894551 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016783 p.Asp68Ala Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016784 p.Asp114Tyr Disease rs1446467099Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016785 p.Cys152Trp Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016786 p.Tyr231Cys Disease rs104894550 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016787 p.His244Arg Disease rs1057516995Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_016788 p.Asp249Val Disease rs104894552 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039079 p.Ile16Thr Disease rs769653717 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039080 p.Gly27Arg Disease rs766328537 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039081 p.Asp114Glu Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039082 p.Gly123Glu Disease rs1057521115Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039083 p.Cys152Tyr Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039084 p.Arg168Cys Disease rs937670540 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039085 p.Pro183His Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039086 p.Val186Phe Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039087 p.Met195Arg Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039088 p.Pro280Leu Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039089 p.Pro280Ser Disease rs750505963 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039090 p.Ala287Thr Disease rs774323189 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_039091 p.Cys310Gly Polymorphism rs376854191 - ASPA P45381 VAR_078086 p.Glu24Lys Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078087 p.Leu30Pro Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078088 p.Ala57Val Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078089 p.Arg63Thr Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078090 p.Leu69Arg Disease rs776777887 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078091 p.Gly101Val Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078092 p.Glu129Lys Disease rs773049803 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078093 p.Ile170Thr Disease rs144321760 Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078094 p.Ile177Thr Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078095 p.Gly180Val Disease rs1014551540Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078096 p.Asp204His Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078097 p.Gln248Arg Disease - Canavan disease (CAND) [MIM:271900] ASPA P45381 VAR_078098 p.Ala286Asp Disease rs1414684396Canavan disease (CAND) [MIM:271900] ASPDH A6ND91 VAR_062676 p.Gln266Arg Polymorphism rs12977172 - ASPG Q86U10 VAR_059131 p.Cys95Arg Polymorphism rs1770984 - ASPG Q86U10 VAR_059132 p.Leu96Val Polymorphism rs1744284 - ASPG Q86U10 VAR_059133 p.Ser344Arg Polymorphism rs8012505 - ASPHD2 Q6ICH7 VAR_060123 p.Asn235Ser Polymorphism rs34902186 - ASPH Q12797 VAR_053781 p.Arg354Met Polymorphism rs6995412 - ASPH Q12797 VAR_071821 p.Arg735Trp Disease rs374385878 Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) [MIM:601552] ASPM Q8IZT6 VAR_019084 p.Ser2562Gly Polymorphism rs41310927 - ASPM Q8IZT6 VAR_019085 p.Leu2647Ile Polymorphism rs3762271 - ASPM Q8IZT6 VAR_019086 p.Leu3132Arg Polymorphism rs36004306 - ASPM Q8IZT6 VAR_024369 p.Arg430Gly Polymorphism rs6428388 - ASPM Q8IZT6 VAR_046758 p.Thr869Ser Polymorphism rs7551108 - ASPM Q8IZT6 VAR_046759 p.Ser1090Phe Polymorphism rs16841081 - ASPM Q8IZT6 VAR_046760 p.Tyr2494His Polymorphism rs964201 - ASPM Q8IZT6 VAR_046761 p.Gln2620His Polymorphism rs12138336 - ASPM Q8IZT6 VAR_046762 p.His3258Arg Polymorphism rs7528827 - ASPM Q8IZT6 VAR_047263 p.Ile313Val Polymorphism rs12025066 - ASPM Q8IZT6 VAR_071930 p.Asn2526Asp Polymorphism rs587783267 - ASPM Q8IZT6 VAR_071931 p.Gln3180Pro Polymorphism rs193251130 - ASPRV1 Q53RT3 VAR_051508 p.Thr49Ala Polymorphism rs3796097 - ASPSCR1 Q9BZE9 VAR_027503 p.Leu252Gln Polymorphism rs8074498 - ASPSCR1 Q9BZE9 VAR_027504 p.Asp487Glu Polymorphism rs13087 - ASPSCR1 Q9BZE9 VAR_034745 p.Val318Met Polymorphism rs34085048 - ASRGL1 Q7L266 VAR_081118 p.Gly178Arg Unclassified - - ASS1 P00966 VAR_000681 p.Gly14Ser Disease rs121908636 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000682 p.Ser18Leu Disease rs121908643 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000683 p.Arg86Cys Disease rs121908644 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000684 p.Ala118Thr Disease rs775305020 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000685 p.Arg157His Disease rs121908637 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000686 p.Ser180Asn Disease rs121908638 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000687 p.Ala192Val Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000688 p.Arg272Cys Disease rs762387914 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000689 p.Gly280Arg Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000690 p.Arg304Trp Disease rs121908642 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000691 p.Gly324Ser Disease rs121908639 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000692 p.Arg363Leu Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000693 p.Arg363Trp Disease rs121908640 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_000694 p.Gly390Arg Disease rs121908641 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015891 p.Cys19Arg Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015892 p.Arg86His Disease rs575001023 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015893 p.Arg95Ser Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015894 p.Pro96Ser Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015895 p.Gly117Ser Disease rs770944877 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015896 p.Gly117Asp Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015897 p.Arg157Cys Disease rs770585183 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015898 p.Trp179Arg Disease rs121908646 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015899 p.Glu191Lys Disease rs777828000 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015900 p.Arg265His Disease rs398123131 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015901 p.Val269Met Disease rs370595480 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015902 p.Glu283Lys Disease rs765338121 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015903 p.Lys310Arg Disease rs199751308 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_015904 p.Gly362Val Disease rs121908647 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016007 p.Glu270Gln Disease rs775163147 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016008 p.Arg279Gln Disease rs371265106 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016009 p.Lys310Gln Disease rs121908648 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016010 p.Arg363Gly Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016011 p.Arg363Gln Disease rs771937610 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016012 p.Thr389Ile Disease rs1474017319Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016013 p.Val69Ala Disease rs771594651 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016014 p.Arg108Leu Disease rs35269064 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_016015 p.Thr119Ile Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058337 p.Gln40Leu Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058338 p.Ser79Pro Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058339 p.Pro96His Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058340 p.Asp124Asn Disease rs936192871 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058341 p.Arg127Gln Disease rs201623252 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058342 p.Arg127Trp Disease rs771794639 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058343 p.Leu160Pro Disease rs969835605 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058344 p.Tyr190Asp Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058345 p.Glu191Gln Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058346 p.Ala202Glu Disease rs376371866 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058347 p.Leu206Pro Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058348 p.Val263Met Disease rs192838388 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058349 p.Arg265Cys Disease rs148918985 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058350 p.Lys277Thr Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058351 p.Thr284Ile Disease rs886039853 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058352 p.Tyr291Ser Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058353 p.Asp296Gly Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058354 p.Met302Val Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058355 p.Arg307Cys Disease rs183276875 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058356 p.Gly324Val Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058357 p.Ser341Phe Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058358 p.Val345Gly Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058359 p.Gly347Arg Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_058360 p.Tyr359Asp Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_072792 p.Val141Gly Disease rs1184442048Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078388 p.Val64Ile Unclassified rs556297791 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078389 p.Thr91Pro Disease rs769018733 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078390 p.Pro96Leu Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078392 p.Arg100Cys Disease rs370695114 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078393 p.Arg100His Disease rs138279074 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078394 p.Ala111Asp Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078395 p.Gly117Cys Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078396 p.Arg127Leu Polymorphism rs201623252 - ASS1 P00966 VAR_078398 p.Arg157Ser Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078400 p.Ala164Pro Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078401 p.Ser180Ile Disease rs121908638 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078402 p.Asn184Lys Disease rs368192467 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078403 p.Gly230Arg Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078404 p.Asn237Ile Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078405 p.Ala258Pro Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078406 p.Ala258Val Disease rs753078725 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078407 p.Arg272His Disease rs768215008 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078408 p.Arg272Leu Disease rs768215008 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078411 p.Leu290Pro Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078412 p.Ala299Asp Disease rs768394647 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078413 p.Val306Gly Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078415 p.Val321Met Disease rs727503813 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078416 p.Arg335His Disease rs555388438 Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078417 p.Cys337Arg Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078419 p.Gly356Val Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASS1 P00966 VAR_078422 p.Thr389Pro Disease - Citrullinemia 1 (CTLN1) [MIM:215700] ASTL Q6HA08 VAR_033491 p.Gln222Arg Polymorphism rs749458 - ASTL Q6HA08 VAR_057063 p.Lys277Gln Polymorphism rs1657502 - ASTL Q6HA08 VAR_061734 p.Arg204His Polymorphism rs41320144 - ASTN1 O14525 VAR_036764 p.Gly1270Arg Polymorphism rs12118933 - ASTN1 O14525 VAR_055713 p.Arg1278Gly Polymorphism rs12118933 - ASTN1 O14525 VAR_069030 p.His932Arg Polymorphism rs2228956 - ASTN1 O14525 VAR_069031 p.His942Gln Polymorphism rs2281180 - ASTN2 O75129 VAR_036765 p.Val70Ile Polymorphism rs16933591 - ASTN2 O75129 VAR_036766 p.Arg865His Polymorphism rs3818503 - ASTN2 O75129 VAR_036767 p.Val1149Ile Polymorphism rs16933591 - ASTN2 O75129 VAR_036768 p.Val1293Leu Unclassified - A breast cancer sample ASTN2 O75129 VAR_064699 p.Ala229Val Unclassified - - ASXL1 Q8IXJ9 VAR_028157 p.Pro815Leu Polymorphism rs6058694 - ASXL1 Q8IXJ9 VAR_028158 p.Leu1325Phe Polymorphism rs6057581 - ASXL1 Q8IXJ9 VAR_051602 p.Val751Ile Polymorphism rs6058693 - ASXL1 Q8IXJ9 VAR_051603 p.Leu983Arg Polymorphism rs34359205 - ASXL2 Q76L83 VAR_037773 p.Leu731Pro Polymorphism rs13385963 - ASXL2 Q76L83 VAR_037774 p.Ala796Val Polymorphism rs17854251 - ASXL2 Q76L83 VAR_037775 p.Thr1210Pro Polymorphism rs12991178 - ASXL2 Q76L83 VAR_037776 p.Thr1242Pro Polymorphism rs12990978 - ASXL3 Q9C0F0 VAR_039267 p.Asn954Ser Polymorphism rs2282632 - ASXL3 Q9C0F0 VAR_039268 p.Met1415Arg Polymorphism rs16964887 - ASXL3 Q9C0F0 VAR_039269 p.Val1652Met Polymorphism rs17746949 - ASXL3 Q9C0F0 VAR_039270 p.Met1708Val Polymorphism rs7232237 - ASZ1 Q8WWH4 VAR_024175 p.Lys216Thr Polymorphism rs1029396 - ATAD1 Q8NBU5 VAR_035903 p.Val107Ile Unclassified - A colorectal cancer sample ATAD1 Q8NBU5 VAR_080830 p.Gln54His Unclassified - Hyperekplexia 4 (HKPX4) [MIM:618011] ATAD2B Q9ULI0 VAR_055467 p.Ser118Pro Polymorphism rs10210982 - ATAD2 Q6PL18 VAR_047625 p.Ile1280Thr Polymorphism rs3758122 - ATAD3A Q9NVI7 VAR_023526 p.Gly15Asp Polymorphism rs2274435 - ATAD3A Q9NVI7 VAR_055468 p.Ser101Asn Polymorphism rs1619896 - ATAD3B Q5T9A4 VAR_048120 p.Val7Ile Polymorphism rs1240504 - ATAD5 Q96QE3 VAR_038572 p.Thr35Ser Polymorphism rs9910051 - ATAD5 Q96QE3 VAR_038573 p.Pro87Ser Polymorphism rs3816780 - ATAD5 Q96QE3 VAR_038574 p.Glu135Gly Polymorphism rs11080134 - ATAD5 Q96QE3 VAR_038575 p.Arg249Lys Polymorphism rs17826219 - ATAD5 Q96QE3 VAR_038576 p.Asn699His Polymorphism rs3764421 - ATAD5 Q96QE3 VAR_038577 p.Tyr1419His Polymorphism rs11657270 - ATAD5 Q96QE3 VAR_079496 p.Asp215Asn Polymorphism rs367699401 - ATCAY Q86WG3 VAR_017164 p.Ser301Arg Disease - Cerebellar ataxia, cayman type (ATCAY) [MIM:601238] ATF1 P18846 VAR_024382 p.Pro191Ala Polymorphism rs2230674 - ATF2 P15336 VAR_035999 p.Asp352His Unclassified - A breast cancer sample ATF3 P18847 VAR_048442 p.Thr38Met Polymorphism rs11571541 - ATF4 P18848 VAR_014768 p.Glu322Asp Polymorphism rs1803324 - ATF4 P18848 VAR_028253 p.Gln22Pro Polymorphism rs4894 - ATF4 P18848 VAR_029259 p.Pro258Ala Polymorphism rs1803323 - ATF5 Q9Y2D1 VAR_022786 p.Pro121Leu Polymorphism rs283526 - ATF6 P18850 VAR_022455 p.Met67Leu Polymorphism rs1058405 - ATF6 P18850 VAR_022456 p.Met67Val Polymorphism rs1058405 - ATF6 P18850 VAR_022457 p.Ala145Pro Polymorphism rs2070150 - ATF6 P18850 VAR_022458 p.Pro157Ser Polymorphism rs1135983 - ATF6 P18850 VAR_075681 p.Arg324Cys Disease rs761357250 Achromatopsia 7 (ACHM7) [MIM:616517] ATF6 P18850 VAR_075682 p.Tyr567Asn Disease rs796065053 Achromatopsia 7 (ACHM7) [MIM:616517] ATF7IP2 Q5U623 VAR_031286 p.Thr537Ile Polymorphism rs9932051 - ATF7IP2 Q5U623 VAR_031287 p.Ala543Thr Polymorphism rs9931441 - ATF7IP2 Q5U623 VAR_053872 p.Ser527Leu Polymorphism rs34834862 - ATF7IP Q6VMQ6 VAR_031283 p.Glu278Lys Polymorphism rs2231908 - ATF7IP Q6VMQ6 VAR_031284 p.Asn348Ile Polymorphism rs2231909 - ATF7IP Q6VMQ6 VAR_031285 p.Lys530Arg Polymorphism rs3213764 - ATG10 Q9H0Y0 VAR_021562 p.Thr212Met Polymorphism rs1864183 - ATG10 Q9H0Y0 VAR_021563 p.Pro220His Polymorphism rs1864182 - ATG10 Q9H0Y0 VAR_024370 p.Ser62Pro Polymorphism rs3734114 - ATG14 Q6ZNE5 VAR_049514 p.Asn131Lys Polymorphism rs17675076 - ATG14 Q6ZNE5 VAR_061240 p.Val59Ile Polymorphism rs57295720 - ATG16L1 Q676U5 VAR_021834 p.Thr300Ala Disease rs2241880 Inflammatory bowel disease 10 (IBD10) [MIM:611081] ATG16L1 Q676U5 VAR_053386 p.Glu307Lys Polymorphism rs1866878 - ATG16L2 Q8NAA4 VAR_043605 p.Arg220Trp Polymorphism rs11235604 - ATG2A Q2TAZ0 VAR_038158 p.Val175Ile Polymorphism rs12293826 - ATG2A Q2TAZ0 VAR_038159 p.Ala627Val Polymorphism rs2285347 - ATG2A Q2TAZ0 VAR_038160 p.Gly948Arg Polymorphism rs11827140 - ATG2A Q2TAZ0 VAR_061027 p.Arg394Cys Polymorphism rs35115827 - ATG2A Q2TAZ0 VAR_061028 p.Ala404Val Polymorphism rs60711419 - ATG2A Q2TAZ0 VAR_061029 p.Pro656Arg Polymorphism rs656195 - ATG2B Q96BY7 VAR_021523 p.Gln1383Glu Polymorphism rs3759601 - ATG2B Q96BY7 VAR_023096 p.Ile1567Thr Polymorphism rs2289622 - ATG2B Q96BY7 VAR_045956 p.Asn1124Asp Polymorphism rs9323945 - ATG4B Q9Y4P1 VAR_021486 p.Leu354Gln Polymorphism rs7601000 - ATG5 Q9H1Y0 VAR_036243 p.Lys58Met Unclassified - A colorectal cancer sample ATG5 Q9H1Y0 VAR_079274 p.Glu122Asp Disease rs1131692265Spinocerebellar ataxia, autosomal recessive, 25 (SCAR25) [MIM:617584] ATG7 O95352 VAR_053014 p.Val471Ala Polymorphism rs36117895 - ATG9A Q7Z3C6 VAR_021835 p.Ser592Gly Polymorphism rs2276635 - ATG9A Q7Z3C6 VAR_055534 p.Gln659His Polymorphism rs2276634 - ATG9B Q674R7 VAR_061030 p.Pro166Leu Polymorphism rs61078191 - ATIC P31939 VAR_019306 p.Thr116Ser Polymorphism rs2372536 - ATIC P31939 VAR_019307 p.Lys426Arg Disease rs121434478 AICAR transformylase/IMP cyclohydrolase deficiency (AICAR) [MIM:608688] ATL1 Q8WXF7 VAR_017146 p.Arg217Gln Disease rs119476049 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_017147 p.Arg239Cys Disease rs119476046 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_017148 p.His258Arg Disease rs119476048 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_017149 p.Ser259Tyr Disease rs119476047 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_019446 p.Ala161Pro Disease - Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_019447 p.His247Pro Disease - Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_058963 p.Asp43Glu Polymorphism rs17850684 - ATL1 Q8WXF7 VAR_058964 p.Phe193Cys Polymorphism rs17850683 - ATL1 Q8WXF7 VAR_065508 p.Glu66Gln Disease rs200314808 Neuropathy, hereditary sensory, 1D (HSN1D) [MIM:613708] ATL1 Q8WXF7 VAR_065509 p.Leu157Trp Disease rs119476051 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_065510 p.Asn355Lys Disease - Neuropathy, hereditary sensory, 1D (HSN1D) [MIM:613708] ATL1 Q8WXF7 VAR_065511 p.Met408Val Disease rs28939094 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_065512 p.Arg415Trp Disease rs119476050 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_067655 p.Gln154Glu Disease - Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_067656 p.Tyr196Cys Unclassified - - ATL1 Q8WXF7 VAR_067657 p.Val253Ile Disease rs864622520 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_067658 p.Phe413Val Disease - Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_067659 p.Asn440Thr Disease - Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_067660 p.Arg495Trp Disease rs864622269 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_071708 p.Arg415Gln Disease rs397514712 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_071709 p.Arg416Cys Disease rs387906941 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL1 Q8WXF7 VAR_071874 p.Arg118Gln Disease rs606231265 Spastic paraplegia 3, autosomal dominant (SPG3) [MIM:182600] ATL2 Q8NHH9 VAR_032265 p.Trp18Arg Polymorphism rs3731847 - ATL2 Q8NHH9 VAR_032266 p.Asn272Ser Polymorphism rs34873284 - ATL2 Q8NHH9 VAR_032267 p.Asp420His Polymorphism rs7582826 - ATL3 Q6DD88 VAR_070973 p.Tyr192Cys Disease rs587777108 Neuropathy, hereditary sensory, 1F (HSN1F) [MIM:615632] ATMIN O43313 VAR_050681 p.Ser240Pro Polymorphism rs2278022 - ATMIN O43313 VAR_050682 p.Lys305Glu Polymorphism rs2278023 - ATM Q13315 VAR_010798 p.Ser49Cys Polymorphism rs1800054 - ATM Q13315 VAR_010799 p.Asp126Glu Polymorphism rs2234997 - ATM Q13315 VAR_010800 p.Val182Leu Polymorphism rs3218707 - ATM Q13315 VAR_010801 p.Lys224Glu Unclassified rs145053092 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010802 p.Pro292Leu Disease rs747727055 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010803 p.Ile323Val Disease rs587781511 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010804 p.Tyr332Cys Unclassified - B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010805 p.Ala350Thr Unclassified rs371713984 B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010806 p.Ile352Thr Unclassified rs369203092 B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010807 p.Gly514Asp Polymorphism rs2235000 - ATM Q13315 VAR_010808 p.Phe570Ser Disease rs777301065 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010810 p.Ser707Pro Polymorphism rs4986761 - ATM Q13315 VAR_010812 p.Asn768Asp Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010813 p.Arg785Cys Disease rs587778065 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010814 p.Phe858Leu Polymorphism rs1800056 - ATM Q13315 VAR_010815 p.Leu950Arg Disease rs786203054 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010816 p.Leu1001Gln Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010817 p.Met1040Val Unclassified rs3092857 - ATM Q13315 VAR_010818 p.Pro1054Arg Polymorphism rs1800057 - ATM Q13315 VAR_010819 p.His1082Leu Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010820 p.Glu1091Asp Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010821 p.Ile1407Thr Unclassified rs1234250980T-prolymphocytic leukemia ATM Q13315 VAR_010822 p.Leu1420Phe Polymorphism rs1800058 - ATM Q13315 VAR_010823 p.Leu1420Pro Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010824 p.Lys1454Asn Polymorphism rs148993589 - ATM Q13315 VAR_010825 p.Phe1463Ser Unclassified - - ATM Q13315 VAR_010826 p.Leu1465Pro Disease rs730881391 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010827 p.Pro1566Arg Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010828 p.Val1570Ala Polymorphism rs140856217 - ATM Q13315 VAR_010829 p.Asp1682His Unclassified rs121434217 T-prolymphocytic leukemia ATM Q13315 VAR_010830 p.Ser1691Arg Polymorphism rs1800059 - ATM Q13315 VAR_010831 p.Thr1743Ile Disease rs587779844 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010833 p.Asp1853Asn Polymorphism rs1801516 - ATM Q13315 VAR_010834 p.Asp1853Val Polymorphism rs1801673 - ATM Q13315 VAR_010835 p.Leu1910His Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010836 p.Val1913Gly Disease rs1060501688Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010837 p.Thr1953Arg Unclassified - B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010838 p.Asp2016Gly Disease rs587781302 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010839 p.Gly2063Glu Disease rs866290641 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010840 p.Ala2067Asp Disease rs397514577 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010841 p.Val2079Ile Polymorphism rs1800060 - ATM Q13315 VAR_010842 p.Glu2139Gly Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010843 p.Glu2164Lys Unclassified rs1317619286T-prolymphocytic leukemia ATM Q13315 VAR_010844 p.Ser2218Cys Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010846 p.Arg2227Cys Disease rs564652222 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010848 p.Ala2274Thr Unclassified rs567060474 B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010849 p.Gly2287Ala Polymorphism rs1800061 - ATM Q13315 VAR_010850 p.Thr2396Ser Unclassified rs370559102 T-prolymphocytic leukemia ATM Q13315 VAR_010852 p.Ala2420Pro Unclassified - B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010853 p.Glu2423Gly Unclassified rs121434221 Mantle cell lymphoma ATM Q13315 VAR_010854 p.Val2424Gly Disease rs28904921 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010856 p.Thr2438Ile Polymorphism rs147604227 - ATM Q13315 VAR_010857 p.Gln2442Pro Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010858 p.Tyr2470Asp Disease rs876659365 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010859 p.Arg2486Gly Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010860 p.Trp2491Arg Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010862 p.His2554Asp Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010863 p.Asp2625Gln Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010865 p.Leu2656Pro Disease rs121434218 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010868 p.Glu2668Gly Unclassified - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010869 p.Gly2695Ala Unclassified - B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010869 p.Gly2695Ala Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010870 p.Ile2702Arg Disease rs876659735 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010871 p.Leu2722Arg Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010872 p.Asp2725Gly Unclassified - - ATM Q13315 VAR_010873 p.Asp2725Val Unclassified - T-prolymphocytic leukemia ATM Q13315 VAR_010874 p.Ala2726Val Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010875 p.Phe2732Leu Unclassified rs876659619 T-prolymphocytic leukemia ATM Q13315 VAR_010876 p.Gly2765Ser Polymorphism rs748634900 - ATM Q13315 VAR_010878 p.Cys2824Tyr Disease rs876660927 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010879 p.Phe2827Cys Disease rs121434216 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010880 p.Pro2829Leu Disease rs938431501 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010881 p.Arg2832Cys Disease rs587779872 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010882 p.Arg2849Pro Disease rs587782202 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010883 p.Ser2855Arg Disease rs780905851 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010886 p.Gly2867Arg Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010888 p.Leu2890Val Unclassified rs587779874 T-prolymphocytic leukemia ATM Q13315 VAR_010889 p.Glu2904Gly Disease rs786202826 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010890 p.Arg2909Gly Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010892 p.Ala3006Pro Unclassified rs876658767 - ATM Q13315 VAR_010893 p.Arg3008Cys Disease rs587782292 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_010894 p.Arg3008His Unclassified rs587781894 B-cell chronic lymphocytic leukemia ATM Q13315 VAR_010895 p.Lys3018Asn Unclassified - B-cell chronic lymphocytic leukemia ATM Q13315 VAR_041545 p.Arg23Gln Unclassified rs587779858 A colorectal adenocarcinoma sample ATM Q13315 VAR_041546 p.Asp140His Polymorphism rs55633650 - ATM Q13315 VAR_041547 p.Arg250Gln Polymorphism rs56123940 - ATM Q13315 VAR_041548 p.Ser333Phe Polymorphism rs28904919 - ATM Q13315 VAR_041549 p.Arg337Cys Unclassified rs138398778 A colorectal adenocarcinoma sample ATM Q13315 VAR_041550 p.Arg337His Unclassified rs202160435 A colorectal adenocarcinoma sample ATM Q13315 VAR_041551 p.Val410Ala Polymorphism rs56128736 - ATM Q13315 VAR_041552 p.Asn504Ser Polymorphism rs56365018 - ATM Q13315 VAR_041553 p.Cys540Tyr Unclassified - A colorectal adenocarcinoma sample ATM Q13315 VAR_041554 p.Leu546Val Polymorphism rs2227924 - ATM Q13315 VAR_041555 p.Phe582Leu Polymorphism rs2235006 - ATM Q13315 VAR_041556 p.Glu848Gln Unclassified rs879254046 A lung adenocarcinoma sample ATM Q13315 VAR_041557 p.Pro872Ser Polymorphism rs3218673 - ATM Q13315 VAR_041558 p.Arg924Trp Polymorphism rs55723361 - ATM Q13315 VAR_041559 p.Thr935Ala Polymorphism rs35813135 - ATM Q13315 VAR_041560 p.Ser1179Phe Unclassified - A gastric adenocarcinoma sample ATM Q13315 VAR_041561 p.Met1321Ile Polymorphism rs35184530 - ATM Q13315 VAR_041562 p.His1380Tyr Polymorphism rs3092856 - ATM Q13315 VAR_041563 p.Pro1382Ser Polymorphism rs55859590 - ATM Q13315 VAR_041564 p.Ile1469Met Unclassified rs775047783 A renal papillary cancer sample ATM Q13315 VAR_041565 p.Tyr1475Cys Polymorphism rs34640941 - ATM Q13315 VAR_041566 p.Asn1650Ser Polymorphism rs55870064 - ATM Q13315 VAR_041567 p.Asn1739Thr Unclassified - A colorectal adenocarcinoma sample ATM Q13315 VAR_041568 p.Met1916Ile Unclassified - A breast pleomorphic lobular carcinoma sample ATM Q13315 VAR_041569 p.Ala1945Thr Unclassified - A colorectal adenocarcinoma sample ATM Q13315 VAR_041570 p.Tyr1961Cys Polymorphism rs56399311 - ATM Q13315 VAR_041571 p.Ser1983Asn Polymorphism rs659243 - ATM Q13315 VAR_041572 p.Glu1991Asp Unclassified rs587782274 A renal clear cell carcinoma sample ATM Q13315 VAR_041573 p.Leu2307Phe Polymorphism rs56009889 - ATM Q13315 VAR_041574 p.Leu2332Pro Polymorphism rs4988111 - ATM Q13315 VAR_041575 p.Ile2356Phe Unclassified rs876658517 A renal clear cell carcinoma sample ATM Q13315 VAR_041576 p.Ser2408Leu Unclassified rs730881315 A colorectal adenocarcinoma sample ATM Q13315 VAR_041577 p.Arg2443Gln Unclassified rs587782310 A colorectal adenocarcinoma sample ATM Q13315 VAR_041578 p.Cys2464Arg Polymorphism rs55801750 - ATM Q13315 VAR_041579 p.Leu2492Arg Polymorphism rs56399857 - ATM Q13315 VAR_041580 p.Thr2666Ala Unclassified rs745775382 A lung adenocarcinoma sample ATM Q13315 VAR_041581 p.Arg2719His Polymorphism rs55982963 - ATM Q13315 VAR_041582 p.Pro2842Arg Unclassified rs879254065 A lung adenocarcinoma sample ATM Q13315 VAR_041583 p.Asp2870Asn Polymorphism rs55798854 - ATM Q13315 VAR_056678 p.Arg45Trp Polymorphism rs3218684 - ATM Q13315 VAR_056679 p.Thr761Ser Polymorphism rs2235011 - ATM Q13315 VAR_056680 p.Ser788Arg Polymorphism rs641252 - ATM Q13315 VAR_056681 p.Asp814Glu Polymorphism rs3218695 - ATM Q13315 VAR_056682 p.Thr935Met Polymorphism rs3218708 - ATM Q13315 VAR_056683 p.Leu942Phe Polymorphism rs3218688 - ATM Q13315 VAR_056684 p.Glu1313Gln Polymorphism rs3092841 - ATM Q13315 VAR_056685 p.Ala1427Thr Polymorphism rs2229021 - ATM Q13315 VAR_056686 p.Leu1541Phe Polymorphism rs3092849 - ATM Q13315 VAR_056687 p.Val1729Leu Polymorphism rs3092907 - ATM Q13315 VAR_056688 p.Arg2034Gln Polymorphism rs3218670 - ATM Q13315 VAR_056689 p.Thr2335Lys Polymorphism rs3092831 - ATM Q13315 VAR_056690 p.Glu2570Gly Polymorphism rs28904920 - ATM Q13315 VAR_056691 p.Thr2640Ile Polymorphism rs4988125 - ATM Q13315 VAR_056692 p.Gly2709Ser Polymorphism rs3218680 - ATM Q13315 VAR_077237 p.Leu1046Pro Disease rs568461905 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_077238 p.Gly2023Arg Disease rs11212587 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_077239 p.Leu2068Ser Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_077240 p.Tyr2080Asp Disease rs1064795467Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_077241 p.Tyr2627His Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_077242 p.Phe2834Leu Disease - Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_077243 p.Asn3003Asp Disease rs1137889 Ataxia telangiectasia (AT) [MIM:208900] ATM Q13315 VAR_080300 p.Leu1322Ile Polymorphism rs144535256 - ATN1 P54259 VAR_030937 p.Met339Ile Polymorphism rs1058045 - ATOH1 Q92858 VAR_049539 p.His237Gln Polymorphism rs35182771 - ATOH7 Q8N100 VAR_072398 p.Asn46His Disease rs587777666 Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900] ATOH7 Q8N100 VAR_072399 p.Ala47Thr Polymorphism - - ATOH7 Q8N100 VAR_072400 p.Glu49Val Disease rs587777664 Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900] ATOH7 Q8N100 VAR_072401 p.Arg65Gly Polymorphism rs111699024 - ATOH8 Q96SQ7 VAR_039582 p.Leu150Pro Polymorphism rs17851881 - ATP10A O60312 VAR_022004 p.Thr532Met Polymorphism rs2066703 - ATP10A O60312 VAR_022005 p.Ala784Thr Polymorphism rs2066704 - ATP10A O60312 VAR_022006 p.Trp1172Cys Polymorphism rs2076742 - ATP10A O60312 VAR_022007 p.Ala1179Thr Polymorphism rs2076744 - ATP10A O60312 VAR_022008 p.Ile1188Val Polymorphism rs2076745 - ATP10A O60312 VAR_022009 p.Arg1298Ser Polymorphism rs3816800 - ATP10A O60312 VAR_048380 p.Ser353Tyr Polymorphism rs17116056 - ATP10A O60312 VAR_048381 p.Glu834Lys Polymorphism rs17555920 - ATP10A O60312 VAR_048382 p.Val1198Met Polymorphism rs2076746 - ATP10A O60312 VAR_048383 p.Ala1397Val Polymorphism rs9324127 - ATP10A O60312 VAR_061038 p.Arg504His Polymorphism rs56724944 - ATP10A O60312 VAR_078700 p.Arg208Trp Unclassified rs763246380 - ATP10B O94823 VAR_048384 p.Cys217Arg Polymorphism rs958912 - ATP10D Q9P241 VAR_020187 p.Val1240Ile Polymorphism rs1058793 - ATP10D Q9P241 VAR_024371 p.Ser1389Thr Polymorphism rs4145944 - ATP10D Q9P241 VAR_048385 p.Thr43Ile Polymorphism rs33995001 - ATP10D Q9P241 VAR_048386 p.Cys171Arg Polymorphism rs7683838 - ATP10D Q9P241 VAR_048387 p.Thr320Ile Polymorphism rs35596623 - ATP10D Q9P241 VAR_048388 p.Ala337Thr Polymorphism rs35012290 - ATP10D Q9P241 VAR_048389 p.Asn511Ser Polymorphism rs10003238 - ATP10D Q9P241 VAR_048390 p.Phe522Leu Polymorphism rs6843325 - ATP10D Q9P241 VAR_048391 p.Pro716Thr Polymorphism rs34208443 - ATP10D Q9P241 VAR_048392 p.Asn720Ser Polymorphism rs34169638 - ATP10D Q9P241 VAR_048393 p.Ser959Asn Polymorphism rs17462252 - ATP10D Q9P241 VAR_048394 p.Arg1183Lys Polymorphism rs16851681 - ATP10D Q9P241 VAR_048395 p.Ala1392Gly Polymorphism rs35375547 - ATP11A P98196 VAR_048379 p.Val1091Ile Polymorphism rs11616795 - ATP11A P98196 VAR_059139 p.Met317Val Polymorphism rs368865 - ATP11C Q8NB49 VAR_021827 p.Cys114Trp Polymorphism rs2491014 - ATP11C Q8NB49 VAR_036501 p.Thr157Ile Unclassified - A colorectal cancer sample ATP11C Q8NB49 VAR_036502 p.Gln931Pro Unclassified - A colorectal cancer sample ATP11C Q8NB49 VAR_055546 p.Tyr522Cys Polymorphism rs17281983 - ATP11C Q8NB49 VAR_061036 p.Val972Met Polymorphism rs55724992 - ATP11C Q8NB49 VAR_081016 p.Thr418Asn Disease - Hemolytic anemia, congenital, X-linked (HAXL) [MIM:301015] ATP12A P54707 VAR_020186 p.Pro863Leu Polymorphism rs2289909 - ATP13A2 Q9NQ11 VAR_058451 p.Thr12Met Disease rs151117874 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_058452 p.Gly49Ser Polymorphism rs56379718 - ATP13A2 Q9NQ11 VAR_058453 p.Arg294Gln Polymorphism rs56367069 - ATP13A2 Q9NQ11 VAR_058454 p.Pro389Leu Polymorphism rs56275621 - ATP13A2 Q9NQ11 VAR_058455 p.Gly504Arg Disease rs121918227 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_058456 p.Gly533Arg Disease - Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_058457 p.Val578Gly Polymorphism rs56186751 - ATP13A2 Q9NQ11 VAR_058458 p.Ala746Thr Disease rs147277743 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_058459 p.Arg762Trp Polymorphism rs55635527 - ATP13A2 Q9NQ11 VAR_058460 p.Val776Ile Polymorphism rs56170027 - ATP13A2 Q9NQ11 VAR_058461 p.Ile946Phe Polymorphism rs55708915 - ATP13A2 Q9NQ11 VAR_066019 p.Phe182Leu Disease - Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_066020 p.Gly877Arg Disease rs144701072 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_066021 p.Leu1059Arg Disease rs137853967 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_070194 p.Met854Arg Disease rs587777053 Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A2 Q9NQ11 VAR_078055 p.Thr517Ile Disease rs1057519291Spastic paraplegia 78, autosomal recessive (SPG78) [MIM:617225] ATP13A2 Q9NQ11 VAR_078056 p.Gly522Val Unclassified - Kufor-Rakeb syndrome (KRS) [MIM:606693] ATP13A4 Q4VNC1 VAR_038849 p.Ile181Met Polymorphism rs6788448 - ATP13A4 Q4VNC1 VAR_038850 p.Val353Ala Polymorphism - - ATP13A4 Q4VNC1 VAR_038851 p.Glu646Asp Polymorphism rs35424709 - ATP13A5 Q4VNC0 VAR_043614 p.Glu133Gln Polymorphism rs6797429 - ATP13A5 Q4VNC0 VAR_043615 p.Gly739Ser Polymorphism rs2280268 - ATP13A5 Q4VNC0 VAR_043616 p.Ile1053Val Polymorphism rs6787746 - ATP13A5 Q4VNC0 VAR_043617 p.Val1131Ala Polymorphism rs2271791 - ATP13A5 Q4VNC0 VAR_043618 p.Lys1204Gln Polymorphism rs7428010 - ATP13A5 Q4VNC0 VAR_061039 p.Ser96Tyr Polymorphism rs12637558 - ATP1A1 P05023 VAR_048374 p.Ser47Ile Polymorphism rs12564026 - ATP1A1 P05023 VAR_081039 p.Leu48Arg Disease - Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081040 p.Ile592Thr Unclassified - Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081041 p.Ala597Thr Unclassified - Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081042 p.Pro600Ala Disease - Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081043 p.Pro600Thr Unclassified - Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081044 p.Asp601Phe Unclassified - Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036] ATP1A1 P05023 VAR_081045 p.Asp811Ala Disease - Charcot-Marie-Tooth disease 2DD (CMT2DD) [MIM:618036] ATP1A2 P50993 VAR_019934 p.Thr378Asn Disease rs28934002 Alternating hemiplegia of childhood 1 (AHC1) [MIM:104290] ATP1A2 P50993 VAR_019935 p.Arg689Gln Disease rs28933401 Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_019936 p.Met731Thr Disease rs28933400 Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_019937 p.Leu764Pro Disease rs28933398 Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_019938 p.Trp887Arg Disease rs28933399 Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_065685 p.Gly715Arg Disease - Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_069991 p.Gly874Ser Disease - Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_069992 p.Arg1007Trp Disease rs746795369 Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481] ATP1A2 P50993 VAR_078231 p.Gly366Ala Disease rs1057518514- ATP1A2 P50993 VAR_078232 p.Arg593Trp Unclassified rs886039530 - ATP1A3 P13637 VAR_026735 p.Ile274Thr Disease rs80356532 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026736 p.Glu277Lys Disease rs80356533 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026737 p.Thr613Met Disease rs80356534 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026738 p.Ile758Ser Disease rs80356535 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026739 p.Phe780Leu Disease rs80356536 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_026740 p.Asp801Tyr Disease rs80356537 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_068935 p.Ser137Phe Disease rs542652468 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068936 p.Ser137Tyr Disease rs542652468 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068937 p.Gln140Leu Disease rs606231427 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068938 p.Asp220Asn Disease rs1396898460Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068939 p.Ile274Asn Disease rs80356532 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068940 p.Cys333Phe Disease rs606231430 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068941 p.Gly755Ser Disease rs557052809 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068942 p.Asn773Ser Disease rs606231437 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068943 p.Asp801Asn Disease rs80356537 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068944 p.Met806Arg Disease rs549006436 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068945 p.Ile810Ser Disease rs536681257 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068946 p.Ser811Pro Disease rs387907282 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068947 p.Glu815Lys Disease rs387907281 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068949 p.Asp923Asn Disease rs267606670 Dystonia 12 (DYT12) [MIM:128235] ATP1A3 P13637 VAR_068950 p.Gly947Arg Disease rs398122887 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068951 p.Ala955Asp Disease rs606231446 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_068952 p.Asp992Tyr Disease rs606231447 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070767 p.Val322Asp Disease rs606231428 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070768 p.Leu371Pro Disease rs606231433 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070769 p.Gly755Cys Disease rs557052809 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070770 p.Ser772Arg Disease rs534926223 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070771 p.Asn773Ile Disease rs606231437 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070772 p.Glu818Lys Disease rs587777771 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) [MIM:601338] ATP1A3 P13637 VAR_070773 p.Asp923Tyr Disease rs267606670 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_070774 p.Cys927Tyr Disease rs606231444 Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820] ATP1A3 P13637 VAR_078699 p.Ala320Thr Disease rs879255368 - ATP1A4 Q13733 VAR_048375 p.Gly83Asp Polymorphism rs6427504 - ATP1A4 Q13733 VAR_048376 p.Glu297Lys Polymorphism rs17368402 - ATP1A4 Q13733 VAR_048377 p.Met541Arg Polymorphism rs16831482 - ATP1A4 Q13733 VAR_048378 p.Met586Ile Polymorphism rs7528360 - ATP1B2 P14415 VAR_030339 p.Thr199Ala Polymorphism rs2227866 - ATP1B2 P14415 VAR_061031 p.Gln124Leu Polymorphism rs34745087 - ATP1B4 Q9UN42 VAR_055535 p.Val48Ala Polymorphism rs2072452 - ATP23 Q9Y6H3 VAR_054489 p.Ser48Cys Polymorphism rs3751325 - ATP2A1 O14983 VAR_015588 p.Pro789Leu Disease rs121918115 Brody myopathy (BRM) [MIM:601003] ATP2A2 P16615 VAR_008608 p.Gly23Glu Disease rs28929478 Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008609 p.Asn39Thr Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008611 p.Leu65Ser Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008612 p.Arg131Gln Disease rs121912738 Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008613 p.Pro160Leu Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008614 p.Ser186Pro Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008615 p.Gly211Asp Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008616 p.Val223Met Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008617 p.Cys268Phe Disease rs121912733 Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008618 p.Gly310Val Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008619 p.Cys318Arg Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008620 p.Ile348Thr Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008621 p.Glu412Gly Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008622 p.Ser495Phe Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008623 p.Cys560Arg Disease rs121912734 Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008624 p.Phe675Ser Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008625 p.Lys683Glu Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008626 p.Asp702Asn Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008627 p.Ala745Asp Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008629 p.Ser765Leu Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008630 p.Asn767Ser Disease rs121912732 Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008631 p.Gly769Arg Disease rs121912736 Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008632 p.Ala803Thr Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008633 p.Ala838Pro Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008634 p.Val843Phe Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008635 p.Cys875Gly Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008636 p.Ser920Tyr Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008637 p.His943Arg Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_008638 p.Pro975Arg Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_009508 p.Thr357Lys Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_009509 p.Gly749Arg Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_017532 p.Pro602Leu Disease rs121912737 Acrokeratosis verruciformis (AKV) [MIM:101900] ATP2A2 P16615 VAR_079686 p.Asn101Ser Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079688 p.Leu590Pro Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079689 p.Gly625Ala Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079690 p.Asp626Glu Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079692 p.Ala672Pro Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079693 p.Gln691Pro Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079694 p.Arg750Trp Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079695 p.Ser765Trp Disease - Darier disease (DD) [MIM:124200] ATP2A2 P16615 VAR_079697 p.Leu900Pro Disease - Darier disease (DD) [MIM:124200] ATP2A3 Q93084 VAR_036498 p.Arg674His Unclassified rs144535413 A breast cancer sample ATP2A3 Q93084 VAR_048372 p.Gln869His Polymorphism rs11654827 - ATP2B1 P20020 VAR_000698 p.Met267Arg Polymorphism - - ATP2B3 Q16720 VAR_027928 p.Ile198Met Polymorphism rs2269409 - ATP2B3 Q16720 VAR_069308 p.Gly1107Asp Disease rs397514619 Spinocerebellar ataxia, X-linked 1 (SCAX1) [MIM:302500] ATP2C1 P98194 VAR_008803 p.Ala304Thr Disease rs137853012 Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008804 p.Leu318Pro Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008805 p.Met641Arg Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008806 p.Gly645Arg Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008807 p.Thr709Met Disease rs778865612 Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_008808 p.Pro744Arg Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_010130 p.Pro201Leu Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_010131 p.Cys344Tyr Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_010132 p.Thr570Ile Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_019523 p.Cys490Phe Disease rs137853014 Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_019524 p.Leu584Pro Disease rs137853015 Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022672 p.Gly309Cys Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022673 p.Leu341Pro Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022674 p.Cys411Arg Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022675 p.Ile580Val Disease rs1282232888Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022676 p.Asp742Tyr Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_022677 p.Gly789Arg Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_048373 p.Ala450Thr Polymorphism rs41434650 - ATP2C1 P98194 VAR_079698 p.Gly220Glu Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_079699 p.Gly309Val Disease rs1393570830Hailey-Hailey disease (HHD) [MIM:169600] ATP2C1 P98194 VAR_079702 p.Ala731Asp Disease - Hailey-Hailey disease (HHD) [MIM:169600] ATP2C2 O75185 VAR_047935 p.Gly411Ser Polymorphism rs2303853 - ATP2C2 O75185 VAR_047936 p.Met466Leu Polymorphism rs247897 - ATP2C2 O75185 VAR_047937 p.Leu907Pro Polymorphism rs16973859 - ATP2C2 O75185 VAR_059137 p.Leu165Met Polymorphism rs247818 - ATP2C2 O75185 VAR_070929 p.Leu604Gln Polymorphism rs62640926 - ATP4A P20648 VAR_019428 p.Val265Ala Polymorphism rs2733743 - ATP5F1A P25705 VAR_048369 p.Ala32Ser Polymorphism rs2228437 - ATP5F1A P25705 VAR_069769 p.Arg329Cys Disease rs587776960 Mitochondrial complex V deficiency, nuclear type 4 (MC5DN4) [MIM:615228] ATP5F1A P25705 VAR_071982 p.Tyr321Cys Disease rs587777788 Combined oxidative phosphorylation deficiency 22 (COXPD22) [MIM:616045] ATP5F1B P06576 VAR_048371 p.Glu274Gln Polymorphism rs1042001 - ATP5F1B P06576 VAR_074188 p.Ala130Val Polymorphism - - ATP5F1E P56381 VAR_066211 p.Tyr12Cys Disease rs387906929 Mitochondrial complex V deficiency, nuclear type 3 (MC5DN3) [MIM:614053] ATP5MC2 Q06055 VAR_011920 p.Ser58Ile Polymorphism rs13819 - ATP5MC2 Q06055 VAR_011921 p.Met141Lys Polymorphism rs1803177 - ATP5MC3 P48201 VAR_011922 p.Gly93Glu Polymorphism rs1802622 - ATP5PB P24539 VAR_013176 p.Thr152Asn Polymorphism rs1264895 - ATP5PB P24539 VAR_033534 p.Thr152Met Polymorphism rs1264895 - ATP5PO P48047 VAR_011930 p.Lys98Arg Polymorphism rs4842 - ATP6AP1 Q15904 VAR_077021 p.Leu144Pro Disease rs878853276 Immunodeficiency 47 (IMD47) [MIM:300972] ATP6AP1 Q15904 VAR_077022 p.Tyr313Cys Disease rs878853278 Immunodeficiency 47 (IMD47) [MIM:300972] ATP6AP1 Q15904 VAR_077023 p.Glu346Lys Disease rs878853277 Immunodeficiency 47 (IMD47) [MIM:300972] ATP6AP1 Q15904 VAR_077024 p.Met428Ile Disease rs878853275 Immunodeficiency 47 (IMD47) [MIM:300972] ATP6AP2 O75787 VAR_051313 p.Pro90Ala Polymorphism rs9014 - ATP6AP2 O75787 VAR_051314 p.Ala290Pro Polymorphism rs35798522 - ATP6V0A2 Q9Y487 VAR_042730 p.Arg685Gln Polymorphism rs7969410 - ATP6V0A2 Q9Y487 VAR_042731 p.Ala813Val Polymorphism rs17883456 - ATP6V0A4 Q9HBG4 VAR_017255 p.Pro524Leu Disease rs121908368 Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_017256 p.Met580Thr Disease rs3807153 Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_017257 p.Gly820Arg Disease rs267606671 Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_020992 p.Val2Ala Polymorphism rs10258719 - ATP6V0A4 Q9HBG4 VAR_020993 p.Gly175Asp Disease - Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_020995 p.Arg449His Disease rs1443883930Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_020996 p.Arg807Gln Disease rs28939081 Renal tubular acidosis, distal, autosomal recessive (RTADR) [MIM:602722] ATP6V0A4 Q9HBG4 VAR_066612 p.Phe554Leu Polymorphism rs1026435 - ATP6V0A4 Q9HBG4 VAR_066613 p.His604Gln Polymorphism rs3807154 - ATP6V0B Q99437 VAR_035703 p.Val155Met Unclassified rs373883976 A breast cancer sample ATP6V0D2 Q8N8Y2 VAR_032039 p.Gly272Arg Polymorphism rs10094744 - ATP6V0D2 Q8N8Y2 VAR_032040 p.Glu295Lys Polymorphism rs4263741 - ATP6V1A P38606 VAR_078606 p.Gly72Asp Disease rs1060505037Cutis laxa, autosomal recessive, 2D (ARCL2D) [MIM:617403] ATP6V1A P38606 VAR_078607 p.Arg338Cys Disease rs1060505036Cutis laxa, autosomal recessive, 2D (ARCL2D) [MIM:617403] ATP6V1A P38606 VAR_080994 p.Asp11Asn Unclassified rs746407800 - ATP6V1A P38606 VAR_080995 p.Pro27Arg Unclassified - Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012] ATP6V1A P38606 VAR_080996 p.Asp100Tyr Disease - Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012] ATP6V1A P38606 VAR_080997 p.Pro249Arg Unclassified - - ATP6V1A P38606 VAR_080998 p.Asp349Asn Disease - Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012] ATP6V1A P38606 VAR_080999 p.Asp371Gly Unclassified - Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3) [MIM:618012] ATP6V1B1 P15313 VAR_007866 p.Leu81Pro Disease rs121964880 Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007867 p.Arg124Trp Disease rs727505222 Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007868 p.Met174Arg Disease - Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007869 p.Thr275Pro Disease rs1161604514Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007870 p.Gly316Glu Disease - Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007871 p.Pro346Arg Disease rs781838938 Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_007872 p.Gly364Ser Disease - Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_021011 p.Thr30Ile Polymorphism rs17720303 - ATP6V1B1 P15313 VAR_021012 p.Gly123Val Disease - Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_021013 p.Arg157Cys Disease rs782500780 Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) [MIM:267300] ATP6V1B1 P15313 VAR_021014 p.Glu161Lys Polymorphism rs114234874 - ATP6V1B1 P15313 VAR_021015 p.Arg465His Polymorphism rs142905621 - ATP6V1B2 P21281 VAR_073962 p.Arg485Pro Disease rs730882177 Zimmermann-Laband syndrome 2 (ZLS2) [MIM:616455] ATP6V1C2 Q8NEY4 VAR_032041 p.Asn143Asp Polymorphism rs1198849 - ATP6V1E1 P36543 VAR_036565 p.Arg50Gly Unclassified - A colorectal cancer sample ATP6V1E1 P36543 VAR_078604 p.Leu128Pro Disease rs1060505031Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402] ATP6V1E1 P36543 VAR_078605 p.Arg212Trp Disease rs1028534806Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402] ATP6V1F Q16864 VAR_048348 p.Gly24Val Polymorphism rs10958 - ATP6V1G3 Q96LB4 VAR_048343 p.Glu54Gln Polymorphism rs16843254 - ATP7A Q04656 VAR_000699 p.Ala629Pro Disease rs72554639 Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_000700 p.Gly727Arg Disease rs72554644 Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_000701 p.Leu1006Pro Disease rs72554651 Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_000702 p.Gly1019Asp Disease rs72554652 Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_009999 p.Ser637Leu Disease rs151340631 Occipital horn syndrome (OHS) [MIM:304150] ATP7A Q04656 VAR_010000 p.Val767Leu Polymorphism rs2227291 - ATP7A Q04656 VAR_010001 p.Leu873Arg Disease rs72554646 Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010002 p.Gly876Glu Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010003 p.Cys1000Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010004 p.Gly1300Glu Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010005 p.Gly1302Arg Disease rs72554657 Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010006 p.Gly1302Val Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010007 p.Asp1305Ala Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_010008 p.Ala1362Val Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_016119 p.Ile669Thr Polymorphism rs2234935 - ATP7A Q04656 VAR_016120 p.Arg703His Polymorphism rs2234936 - ATP7A Q04656 VAR_016121 p.Ile1464Val Polymorphism rs2234938 - ATP7A Q04656 VAR_023261 p.Leu706Arg Disease rs72554642 Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023262 p.Arg844His Disease rs367775730 Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023263 p.Gly853Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023264 p.Gly860Val Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023265 p.Gly876Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023266 p.Gln924Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023267 p.Ala1007Val Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023268 p.Gly1015Asp Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023269 p.Asp1044Gly Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023270 p.Leu1100Pro Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023271 p.Gly1118Asp Disease rs72554654 Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023272 p.Gly1255Arg Disease rs72554655 Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023273 p.Lys1282Glu Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023274 p.Asn1304Lys Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023275 p.Gly1315Arg Disease rs797045390 Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023276 p.Ala1325Val Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023277 p.Ser1344Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023278 p.Ile1345Phe Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023279 p.Gly1369Arg Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_023280 p.Ser1397Phe Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_063882 p.Thr994Ile Disease rs267606673 Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) [MIM:300489] ATP7A Q04656 VAR_063883 p.Asn1304Ser Disease rs151340632 Occipital horn syndrome (OHS) [MIM:304150] ATP7A Q04656 VAR_063884 p.Pro1386Ser Disease rs267606672 Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) [MIM:300489] ATP7A Q04656 VAR_068831 p.Thr1048Ile Disease - Menkes disease (MNKD) [MIM:309400] ATP7A Q04656 VAR_080663 p.Lys1350Glu Polymorphism rs4826245 - ATP7B P35670 VAR_000703 p.Gly85Val Disease rs786204643 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000704 p.Gly96Asp Polymorphism rs1429553821- ATP7B P35670 VAR_000705 p.Ile390Val Polymorphism rs770903362 - ATP7B P35670 VAR_000706 p.Ser406Ala Polymorphism rs1801243 - ATP7B P35670 VAR_000707 p.Val446Leu Polymorphism rs587783298 - ATP7B P35670 VAR_000708 p.Val456Leu Polymorphism rs1801244 - ATP7B P35670 VAR_000709 p.Leu466Val Polymorphism - - ATP7B P35670 VAR_000710 p.Leu492Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000711 p.Asn565Ser Polymorphism rs778475094 - ATP7B P35670 VAR_000712 p.Gly626Ala Unclassified rs587783299 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000713 p.Asp642His Unclassified rs72552285 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000714 p.Met645Arg Unclassified rs121907998 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000715 p.Met665Ile Unclassified rs72552259 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000716 p.Gly691Arg Disease rs121908001 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000717 p.Leu708Pro Disease rs121908000 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000718 p.Gly710Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000719 p.Gly710Ser Disease rs137853285 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000720 p.Gly711Glu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000721 p.Tyr713Cys Disease rs756883878 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000722 p.Arg723Gly Polymorphism - - ATP7B P35670 VAR_000723 p.Ile747Phe Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000724 p.Asp765Asn Disease rs28942075 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000725 p.Met769Val Disease rs193922103 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000726 p.Leu776Val Unclassified rs1217463955Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000727 p.Arg778Gly Disease rs137853284 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000728 p.Arg778Leu Disease rs28942074 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000729 p.Arg778Gln Disease rs28942074 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000730 p.Arg778Trp Disease rs137853284 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000731 p.Leu795Phe Unclassified rs751710854 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000732 p.Lys832Arg Polymorphism rs1061472 - ATP7B P35670 VAR_000733 p.Pro840Leu Disease rs768671894 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000734 p.Ile857Thr Disease rs1057520235Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000735 p.Val864Ile Polymorphism - - ATP7B P35670 VAR_000736 p.Gly869Arg Disease rs191312027 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000737 p.Ala874Val Disease rs121907994 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000738 p.Asp918Asn Disease rs540935874 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000739 p.Arg919Gly Disease rs121907993 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000740 p.Arg919Trp Disease rs121907993 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000741 p.Ser921Asn Disease rs1230241288Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000742 p.Thr933Pro Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000743 p.Thr935Met Disease rs750019452 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000744 p.Gly943Asp Disease rs779323689 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000745 p.Gly943Ser Disease rs28942076 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000746 p.Arg952Lys Polymorphism rs732774 - ATP7B P35670 VAR_000747 p.Arg969Gln Disease rs121907996 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000748 p.Thr977Met Disease rs72552255 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000749 p.Pro992Leu Disease rs201038679 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000750 p.Val995Ala Unclassified rs777791532 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000751 p.Ala1003Thr Disease rs201497300 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000752 p.Ala1018Val Disease rs371840514 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000753 p.Gly1035Val Disease rs753594031 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000754 p.Arg1041Trp Unclassified rs746485916 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000755 p.Leu1043Pro Disease rs1412025509Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000756 p.Glu1064Ala Disease rs374094065 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000757 p.Glu1064Lys Disease rs376910645 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000758 p.His1069Gln Disease rs76151636 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000759 p.Leu1083Phe Disease rs1286080173Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000760 p.Gly1089Glu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000761 p.Gly1089Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000762 p.Gly1101Arg Disease rs786204483 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000763 p.Ile1102Thr Disease rs560952220 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000764 p.Val1109Met Polymorphism rs759109027 - ATP7B P35670 VAR_000765 p.Val1140Ala Polymorphism rs1801249 - ATP7B P35670 VAR_000766 p.Gln1142His Disease rs778749563 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000767 p.Val1146Met Disease rs1213481140Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000768 p.Ile1148Thr Disease rs60431989 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000769 p.Trp1153Cys Disease rs1330620114Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000770 p.Met1169Val Disease rs749085322 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000771 p.Ala1183Gly Disease rs587783315 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000772 p.Ala1183Thr Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000773 p.Gly1186Cys Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000774 p.Gly1186Ser Unclassified rs786204547 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000775 p.Gly1213Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000776 p.Val1216Met Disease rs776280797 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000778 p.Thr1220Met Disease rs193922107 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000779 p.Asp1222Tyr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000781 p.Gly1266Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000782 p.Asp1267Ala Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000783 p.Asn1270Ser Disease rs121907990 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000784 p.Pro1273Leu Disease rs758355520 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000785 p.Ala1278Val Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000787 p.Ser1310Arg Disease rs749380700 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000788 p.Arg1322Pro Disease rs753330854 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000789 p.Gly1341Asp Disease rs779494870 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000790 p.Trp1353Arg Disease rs1160679283Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_000791 p.Ala1358Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009004 p.Arg616Gln Unclassified rs752850609 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009006 p.Gly711Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009007 p.Gly711Trp Disease rs1394999756Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009008 p.Ser744Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009009 p.Met769Arg Disease rs772595172 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009010 p.Leu795Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009011 p.Gly869Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009012 p.Cys985Tyr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009013 p.Ala1003Val Disease rs775055397 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009014 p.Thr1033Ala Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009015 p.Arg1041Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009016 p.Pro1052Leu Disease rs778543794 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009017 p.Gly1061Glu Disease rs764131178 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009018 p.Ala1063Val Disease rs587783309 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009019 p.Glu1068Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009020 p.Gln1095Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009021 p.Cys1104Phe Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009022 p.Arg1151His Disease rs377297166 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009023 p.Met1169Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009024 p.Glu1173Lys Disease rs756029120 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009025 p.His1207Arg Polymorphism rs7334118 - ATP7B P35670 VAR_009026 p.Val1239Gly Disease rs374628199 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009027 p.Val1262Phe Disease rs769484789 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009028 p.Gly1266Arg Disease rs121907992 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009029 p.Val1297Ile Polymorphism rs148399850 - ATP7B P35670 VAR_009030 p.Leu1327Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009031 p.Ser1363Phe Disease rs776848753 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_009032 p.Thr1434Met Unclassified rs60986317 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010010 p.Gly710Ala Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010011 p.Tyr741Cys Disease rs770533110 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010012 p.Gly891Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010013 p.Ile967Phe Disease rs60003608 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010014 p.Thr1031Ile Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010015 p.Arg1038Lys Disease rs59959366 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010017 p.Val1106Asp Disease rs775541743 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010018 p.Trp1153Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010019 p.Gly1176Arg Disease rs137853279 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010020 p.Asp1222Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_010021 p.Gly1355Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023010 p.Ala14Asp Polymorphism rs587783319 - ATP7B P35670 VAR_023011 p.Asn41Ser Disease rs201738967 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023012 p.Arg616Trp Disease rs374172791 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023013 p.Leu641Ser Unclassified rs186924074 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023014 p.Pro690Leu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023015 p.Ser693Cys Disease rs1212479289Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023016 p.Ser721Pro Disease rs765667658 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023017 p.Thr737Arg Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023018 p.Pro760Leu Disease rs766907687 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023019 p.Asp765Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023020 p.Pro768His Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023021 p.Met769Ile Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023022 p.Gly875Arg Polymorphism rs587783304 - ATP7B P35670 VAR_023023 p.Val890Met Disease rs786204718 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023024 p.Gln898Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023025 p.Asp918Glu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023026 p.Val949Gly Disease rs1169959260Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023027 p.Ser975Tyr Disease rs778163447 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023028 p.Thr1033Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023029 p.Phe1094Leu Disease rs1397083296Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023030 p.Pro1098Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023031 p.Gly1099Ser Disease rs761632029 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023032 p.Gly1111Asp Disease rs182659444 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023033 p.Thr1143Asn Polymorphism rs587783313 - ATP7B P35670 VAR_023034 p.Ala1168Ser Disease rs777879359 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023035 p.Thr1232Pro Disease rs568009639 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023036 p.Pro1245Ser Polymorphism rs587783316 - ATP7B P35670 VAR_023037 p.Lys1248Asn Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023038 p.Leu1255Ile Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023039 p.Asp1271Asn Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023040 p.Asp1279Gly Disease rs778914828 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023041 p.Leu1305Pro Disease rs377144951 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023042 p.Ile1336Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023043 p.Gly1355Cys Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023044 p.Leu1373Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_023045 p.Leu1373Arg Disease rs780811477 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044453 p.Val290Leu Polymorphism - - ATP7B P35670 VAR_044454 p.Ala486Ser Unclassified rs1282624946Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044455 p.Tyr532His Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044456 p.Gly591Asp Disease rs797045402 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044457 p.Ala604Pro Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044458 p.His639Tyr Unclassified rs200728096 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044459 p.Ser653Tyr Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044460 p.Cys703Tyr Disease rs767218895 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044461 p.Gly710Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044462 p.Ala756Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044463 p.Thr766Met Disease rs121907997 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044464 p.Thr766Arg Disease rs121907997 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044465 p.Leu776Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044466 p.Ala861Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044467 p.Gly875Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044468 p.Gly943Cys Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044469 p.Gly988Arg Disease rs199623434 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044470 p.Thr991Met Disease rs41292782 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044471 p.Pro992His Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044472 p.Met996Thr Disease rs770782111 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044473 p.Gly1000Arg Disease rs751078884 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044474 p.Thr1029Ile Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044475 p.Ala1065Pro Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044476 p.Cys1104Tyr Disease rs764041557 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044477 p.Val1106Ile Unclassified rs541208827 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044478 p.Gly1176Glu Disease rs1318758433Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044480 p.Gly1221Glu Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044481 p.Asp1222Asn Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044482 p.Val1252Ile Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044483 p.Gln1256Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044484 p.Asp1279Tyr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044485 p.Gly1287Ser Disease rs762866453 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044486 p.Asp1296Asn Disease rs199821556 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044488 p.Tyr1331Ser Disease rs1131691741Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044489 p.Gly1341Ser Disease rs587783317 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044490 p.Gly1341Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044491 p.Pro1352Ser Disease rs1388795855Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044492 p.Leu1368Pro Disease rs749171049 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044493 p.Cys1375Ser Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044494 p.Pro1379Ser Unclassified rs181250704 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_044495 p.Asp1407Glu Polymorphism rs587783320 - ATP7B P35670 VAR_058925 p.Val536Ala Polymorphism rs138427376 - ATP7B P35670 VAR_058926 p.Ser657Arg Unclassified rs372436901 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058927 p.Ala971Val Disease rs770340441 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058928 p.Thr974Met Disease rs201061621 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058929 p.Gln1004Pro Disease rs587783307 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058930 p.Gly1149Ala Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058931 p.Asp1164Asn Disease rs867107727 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058932 p.Glu1173Gly Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058933 p.Arg1228Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058934 p.Ile1230Val Disease rs200911496 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058935 p.Asp1267Val Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058936 p.Ala1328Thr Disease rs1333619338Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_058937 p.Met1359Ile Disease rs759551693 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_067335 p.Leu549Pro Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_067336 p.Gly998Asp Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_067337 p.Asn1332Asp Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_067338 p.Gly1341Arg Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_075336 p.Thr788Ile Disease rs541408630 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_075337 p.Val1036Ile Disease rs761147984 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_075338 p.Arg1151Cys Disease rs755554442 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_075339 p.Val1243Leu Polymorphism rs1277243795- ATP7B P35670 VAR_075340 p.Pro1245Thr Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076693 p.Arg136Trp Unclassified rs557577836 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076694 p.Arg148Trp Unclassified rs373762572 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076695 p.Ser382Cys Unclassified rs774102085 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076696 p.Glu541Lys Unclassified rs187046823 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076697 p.Val597Ile Unclassified rs760501309 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076698 p.Gly614Cys Unclassified rs376565432 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076699 p.Val731Ala Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076700 p.Leu745Pro Unclassified rs1362773192Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076701 p.Leu936Val Unclassified rs367855110 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076702 p.Met1017Ile Unclassified rs755851188 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076703 p.Ile1021Val Unclassified rs776490710 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076704 p.Ala1058Val Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076705 p.Pro1070Ser Unclassified rs1423701688Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076706 p.Ala1074Val Unclassified rs1206016866Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076707 p.Ala1250Gly Unclassified rs372042739 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076708 p.Val1298Ile Unclassified rs753044473 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076709 p.Val1298Leu Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076710 p.Ser1431Tyr Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076711 p.Ser1432Phe Unclassified rs375692175 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076729 p.Tyr44Asn Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076730 p.Cys108Arg Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076731 p.Cys157Phe Unclassified rs551275663 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076732 p.Val606Gly Unclassified rs1173050016Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076733 p.Met729Val Unclassified rs773447981 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076734 p.Leu732His Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076735 p.Leu732Pro Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076736 p.Arg827Trp Disease rs539585071 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076737 p.Ala874Pro Unclassified rs376355660 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076738 p.Gly891Asp Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076740 p.Ser921Arg Unclassified rs1052485948Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076741 p.Ile929Val Polymorphism rs534960245 - ATP7B P35670 VAR_076742 p.Cys980Tyr Unclassified rs1038582488Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076743 p.Leu987Pro Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076744 p.Lys1010Thr Disease rs747584649 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076745 p.Val1024Ala Unclassified rs1416453532Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076746 p.Thr1031Ala Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076747 p.Cys1091Tyr Unclassified rs778825095 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076748 p.Thr1178Ala Unclassified rs1387431334Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076749 p.Ala1202Gly Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076750 p.Gly1266Glu Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076751 p.Gly1268Arg Unclassified rs1314712150Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076752 p.Ala1295Asp Disease rs1340942427Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076765 p.Arg827Pro Unclassified rs368589213 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076766 p.Thr858Ala Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076767 p.Ile899Phe Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076768 p.Arg969Trp Unclassified rs774028495 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076769 p.Ala982Val Unclassified rs1487547257Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076770 p.Gly1012Arg Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076771 p.Gly1012Val Unclassified rs772089544 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076772 p.Thr1288Met Unclassified rs373748155 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076773 p.Asn1332Lys Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076774 p.Ser1369Leu Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076793 p.Val149Leu Polymorphism - - ATP7B P35670 VAR_076794 p.Gly591Ser Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076795 p.Val825Leu Polymorphism - - ATP7B P35670 VAR_076810 p.Gly170Val Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076811 p.Asp765His Unclassified rs28942075 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076812 p.Gly836Glu Unclassified rs773809011 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076813 p.Trp939Cys Disease rs1057517310Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076814 p.Ala990Pro Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076815 p.Lys1010Arg Unclassified rs747584649 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076816 p.Cys1104Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076817 p.Leu1113Met Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076818 p.Gly1281Asp Unclassified rs755202606 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076819 p.Glu1293Lys Unclassified rs776300396 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076970 p.Pro539Leu Disease rs572122562 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076971 p.Trp779Gly Disease rs751798708 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076972 p.Arg816Ser Disease - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_076973 p.Gly1347Ser Unclassified rs587783318 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_077616 p.Ala982Thr Unclassified rs750407121 Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_077617 p.Glu1136Lys Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_077618 p.Gly1149Glu Unclassified - Wilson disease (WD) [MIM:277900] ATP7B P35670 VAR_079550 p.Lys1010Glu Unclassified rs1414727042Wilson disease (WD) [MIM:277900] ATP8A1 Q9Y2Q0 VAR_022003 p.Thr673Met Polymorphism rs3792687 - ATP8A2 Q9NTI2 VAR_055543 p.Ala1069Thr Polymorphism rs2296242 - ATP8A2 Q9NTI2 VAR_069928 p.Ile376Met Disease rs546968533 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 (CMARQ4) [MIM:615268] ATP8B1 O43520 VAR_008809 p.Leu288Ser Disease rs121909099 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_008810 p.Gly308Val Disease rs111033609 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_008812 p.Ile661Thr Disease rs121909100 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_008812 p.Ile661Thr Disease rs121909100 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_008813 p.Gly892Arg Disease rs121909098 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_008813 p.Gly892Arg Disease rs121909098 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_015423 p.Asp554Asn Disease rs121909101 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_029271 p.His78Gln Polymorphism rs3745079 - ATP8B1 O43520 VAR_029272 p.Ile577Val Polymorphism rs3745078 - ATP8B1 O43520 VAR_029273 p.Arg952Gln Polymorphism rs12968116 - ATP8B1 O43520 VAR_036499 p.Ala886Val Unclassified rs767398921 A breast cancer sample ATP8B1 O43520 VAR_036500 p.Ile1178Met Unclassified - A breast cancer sample ATP8B1 O43520 VAR_043044 p.Asn45Thr Disease rs146599962 Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] ATP8B1 O43520 VAR_043045 p.Asp70Asn Unclassified rs34719006 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043046 p.Leu127Pro Disease - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043047 p.Lys203Glu Disease rs56355310 Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] ATP8B1 O43520 VAR_043048 p.Phe305Ile Polymorphism rs150860808 - ATP8B1 O43520 VAR_043049 p.Gly308Asp Disease rs111033609 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043050 p.Ile344Phe Disease rs140665115 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043051 p.Arg384His Polymorphism rs2271260 - ATP8B1 O43520 VAR_043052 p.Ile393Val Polymorphism rs34315917 - ATP8B1 O43520 VAR_043053 p.Ser403Tyr Disease - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043054 p.Arg412Pro Disease - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043055 p.Glu429Ala Polymorphism rs34018205 - ATP8B1 O43520 VAR_043056 p.Ser453Tyr Disease - Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043057 p.Asp454Gly Disease - Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043058 p.Thr456Met Disease rs121909104 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043059 p.Tyr500His Disease rs147642236 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043061 p.His535Leu Disease - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043062 p.Ser580Asn Polymorphism rs33963153 - ATP8B1 O43520 VAR_043063 p.Arg600Gln Disease rs1202682161Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043064 p.Arg600Trp Disease rs780186596 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043065 p.Arg628Trp Disease rs752045131 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043066 p.Met674Thr Polymorphism rs35470719 - ATP8B1 O43520 VAR_043067 p.Asp688Gly Disease rs1337978497Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043068 p.Ile694Thr Disease rs541474497 Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] ATP8B1 O43520 VAR_043069 p.Gly733Arg Disease rs1350369369Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043070 p.Lys814Asn Polymorphism rs34018300 - ATP8B1 O43520 VAR_043071 p.Phe853Ser Disease rs773092889 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_043072 p.Arg867Cys Disease rs121909103 Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480] ATP8B1 O43520 VAR_043073 p.Gly1040Arg Disease rs1438249656Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_055045 p.Ala1152Thr Polymorphism rs222581 - ATP8B1 O43520 VAR_071045 p.Pro209Thr Disease rs515726138 Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B1 O43520 VAR_071046 p.Ser1012Ile Disease - Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600] ATP8B3 O60423 VAR_055544 p.Gly45Arg Polymorphism rs7250872 - ATP8B3 O60423 VAR_055545 p.Val618Ile Polymorphism rs8100856 - ATP8B4 Q8TF62 VAR_046962 p.Asn225Ser Polymorphism rs16963151 - ATP8B4 Q8TF62 VAR_046963 p.His452Asn Polymorphism rs2452524 - ATP8B4 Q8TF62 VAR_046964 p.Asn1165Lys Polymorphism rs16962989 - ATP8B4 Q8TF62 VAR_046965 p.Val1190Gly Polymorphism rs16962987 - ATP9B O43861 VAR_047557 p.Ser39Gly Polymorphism rs4078115 - ATP9B O43861 VAR_047558 p.Asp504Asn Polymorphism rs36034863 - ATP9B O43861 VAR_047559 p.Met732Leu Polymorphism rs585033 - ATP9B O43861 VAR_061037 p.Arg108Gln Polymorphism rs34938281 - ATPAF1 Q5TC12 VAR_038906 p.Ser62Gly Polymorphism rs11211337 - ATPAF2 Q8N5M1 VAR_023386 p.Trp94Arg Disease rs104894554 Mitochondrial complex V deficiency, nuclear type 1 (MC5DN1) [MIM:604273] ATRAID Q6UW56 VAR_057991 p.Ala209Ser Polymorphism rs7437 - ATRIP Q8WXE1 VAR_050683 p.Lys125Gln Polymorphism rs11925638 - ATRIP Q8WXE1 VAR_050684 p.Pro240Leu Polymorphism rs35240314 - ATRNL1 Q5VV63 VAR_043446 p.Ser989Asn Polymorphism rs1953758 - ATRN O75882 VAR_048967 p.Asp303Ala Polymorphism rs6107308 - ATRN O75882 VAR_048968 p.Ile426Thr Polymorphism rs17782078 - ATRN O75882 VAR_048969 p.Arg1152Lys Polymorphism rs3886999 - ATRN O75882 VAR_048970 p.Val1226Ile Polymorphism rs12329487 - ATR Q13535 VAR_041584 p.Thr64Ala Polymorphism rs35306038 - ATR Q13535 VAR_041585 p.His90Tyr Polymorphism rs28897763 - ATR Q13535 VAR_041586 p.Lys297Asn Polymorphism rs2229033 - ATR Q13535 VAR_041587 p.Val316Ile Polymorphism rs28897764 - ATR Q13535 VAR_041588 p.Val959Met Polymorphism rs28910271 - ATR Q13535 VAR_041589 p.Tyr1087His Polymorphism rs34253059 - ATR Q13535 VAR_041590 p.Ser1213Gly Polymorphism rs34766606 - ATR Q13535 VAR_041591 p.Ala1488Pro Unclassified - A lung squamous cell carcinoma sample ATR Q13535 VAR_041592 p.Ser1607Asn Polymorphism rs55724025 - ATR Q13535 VAR_041593 p.Asn1612Ser Polymorphism rs55894265 - ATR Q13535 VAR_041594 p.Ala2002Gly Unclassified - A lung adenocarcinoma sample ATR Q13535 VAR_041595 p.Gly2120Ala Polymorphism rs35134774 - ATR Q13535 VAR_041596 p.Tyr2132Asp Polymorphism rs28910273 - ATR Q13535 VAR_041597 p.Ser2233Ile Unclassified - A lung large cell carcinoma sample ATR Q13535 VAR_041598 p.Arg2425Gln Polymorphism rs2229032 - ATR Q13535 VAR_041599 p.Pro2434Ala Polymorphism rs33972295 - ATR Q13535 VAR_041600 p.Glu2438Lys Unclassified - A breast pleomorphic lobular carcinoma sample ATR Q13535 VAR_041601 p.Glu2537Gln Unclassified - A breast infiltrating ductal carcinoma sample ATR Q13535 VAR_050532 p.Met211Thr Polymorphism rs2227928 - ATR Q13535 VAR_050533 p.Ile1526Val Polymorphism rs34124242 - ATR Q13535 VAR_067919 p.Gln2144Arg Disease rs387906797 Cutaneous telangiectasia and cancer syndrome, familial (FCTCS) [MIM:614564] ATRX P46100 VAR_001226 p.Pro190Ala Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001227 p.Leu192Phe Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001228 p.Cys200Ser Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001229 p.Cys220Arg Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001230 p.Trp222Ser Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001231 p.Cys243Phe Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001232 p.Arg246Cys Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001233 p.Gly249Asp Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001234 p.His1609Arg Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001235 p.Cys1614Arg Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001236 p.Lys1650Asn Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001237 p.Asn1860Ser Polymorphism rs45439799 - ATRX P46100 VAR_001238 p.Asp2035Val Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001239 p.Tyr2084His Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_001240 p.Arg2131Gln Disease - Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580] ATRX P46100 VAR_001241 p.Tyr2163Cys Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_010914 p.Arg246Leu Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012113 p.Gly175Glu Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012115 p.Asn179Ser Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012116 p.Pro190Leu Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012117 p.Pro190Ser Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012118 p.Val194Ile Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012119 p.Gln219Pro Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012120 p.Gly249Cys Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012121 p.Val1538Gly Unclassified - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012122 p.Val1552Phe Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012123 p.Leu1645Ser Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012124 p.Pro1713Ser Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012125 p.Arg1742Lys Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012126 p.Tyr1847Cys Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_012127 p.Ile2050Thr Disease - Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580] ATRX P46100 VAR_016914 p.Ser596Pro Polymorphism rs1051678 - ATRX P46100 VAR_016915 p.Glu740Gly Polymorphism rs1051680 - ATRX P46100 VAR_016916 p.Thr1621Met Disease - Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040] ATRX P46100 VAR_023438 p.Gln929Glu Polymorphism rs3088074 - ATRX P46100 VAR_032625 p.Cys220Tyr Disease - Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580] ATRX P46100 VAR_032626 p.Leu409Ser Disease - Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580] ATRX P46100 VAR_032627 p.Arg2271Gly Disease - Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580] ATRX P46100 VAR_055939 p.Gln545Glu Polymorphism rs35738915 - ATXN1L P0C7T5 VAR_044496 p.Ser313Pro Polymorphism rs7194407 - ATXN1 P54253 VAR_046616 p.His209Gln Polymorphism rs11969612 - ATXN1 P54253 VAR_046617 p.Pro753Ser Polymorphism rs16885 - ATXN2 Q99700 VAR_047629 p.Leu107Val Polymorphism rs695871 - ATXN2 Q99700 VAR_047630 p.Ser248Asn Polymorphism rs7969300 - ATXN3L Q9H3M9 VAR_029861 p.Leu266Phe Polymorphism rs16999010 - ATXN3L Q9H3M9 VAR_029862 p.Gly332Asp Polymorphism rs4830842 - ATXN3 P54252 VAR_013688 p.Val212Met Polymorphism rs1048755 - ATXN7L2 Q5T6C5 VAR_053780 p.Pro495Ser Polymorphism rs1149172 - ATXN7 O15265 VAR_011823 p.Lys264Arg Polymorphism rs1053338 - ATXN7 O15265 VAR_011824 p.Pro663Ser Polymorphism rs1053340 - ATXN7 O15265 VAR_020143 p.Val862Met Polymorphism rs3774729 - ATXN7 O15265 VAR_053779 p.Ile573Val Polymorphism rs3733124 - AUH Q13825 VAR_016911 p.Ala240Val Disease rs769894315 3-methylglutaconic aciduria 1 (MGA1) [MIM:250950] AUNIP Q9H7T9 VAR_031776 p.Lys82Thr Polymorphism rs34449716 - AURKAIP1 Q9NWT8 VAR_020132 p.Gln107His Polymorphism rs3736374 - AURKA O14965 VAR_030840 p.Gly11Arg Polymorphism rs6069717 - AURKA O14965 VAR_030841 p.Phe31Ile Polymorphism rs2273535 - AURKA O14965 VAR_030842 p.Val57Ile Polymorphism rs1047972 - AURKA O14965 VAR_041127 p.Pro50Leu Polymorphism rs34572020 - AURKA O14965 VAR_041128 p.Ser155Arg Unclassified - A colorectal adenocarcinoma sample AURKA O14965 VAR_041129 p.Val174Met Unclassified - A metastatic melanoma sample AURKA O14965 VAR_041130 p.Met373Val Polymorphism rs33923703 - AURKA O14965 VAR_061745 p.Ser104Leu Polymorphism rs2230743 - AURKB Q96GD4 VAR_027970 p.His100Gln Polymorphism rs3027254 - AURKB Q96GD4 VAR_027971 p.Met298Thr Polymorphism rs1059476 - AURKB Q96GD4 VAR_040383 p.Ala52Val Polymorphism rs55878091 - AURKB Q96GD4 VAR_040384 p.Thr179Met Polymorphism rs55871613 - AURKC Q9UQB9 VAR_040385 p.Gly52Glu Unclassified - A lung adenocarcinoma sample AURKC Q9UQB9 VAR_040386 p.Glu148Gln Unclassified - A lung squamous cell carcinoma sample AURKC Q9UQB9 VAR_040387 p.His244Gln Unclassified - A lung adenocarcinoma sample AUTS2 Q8WXX7 VAR_013864 p.Ala303Ser Polymorphism rs2293507 - AVEN Q9NQS1 VAR_020144 p.Gln228Arg Polymorphism rs2241647 - AVIL O75366 VAR_054974 p.Lys204Glu Polymorphism rs2172521 - AVL9 Q8NBF6 VAR_027083 p.Cys257Ser Polymorphism rs2290213 - AVPI1 Q5T686 VAR_031405 p.Ala41Gly Polymorphism rs2275047 - AVP P01185 VAR_004980 p.Ser17Phe Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004981 p.Ala19Thr Disease rs387906511 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004982 p.Ala19Val Disease rs387906512 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004983 p.Gly45Arg Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004984 p.Gly48Val Disease rs121964883 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004985 p.Arg51Cys Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004986 p.Pro55Leu Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004988 p.Glu78Gly Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004989 p.Leu81Pro Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004990 p.Gly88Arg Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004991 p.Gly88Ser Disease rs121964882 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004992 p.Cys92Ser Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004993 p.Gly93Trp Disease rs121964885 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_004994 p.Gly96Cys Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_011894 p.Pro82Leu Polymorphism rs5195 - AVP P01185 VAR_011895 p.Gly119Val Polymorphism rs1051744 - AVP P01185 VAR_015262 p.Tyr21His Disease rs121964893 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015263 p.Pro26Leu Disease rs142886338 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015264 p.Cys52Arg Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015265 p.Gly54Arg Disease rs121964888 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015266 p.Gly54Val Disease rs121964887 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015267 p.Cys59Arg Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015268 p.Cys59Tyr Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015269 p.Ser87Phe Disease rs121964890 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015270 p.Cys92Tyr Disease rs121964891 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015271 p.Gly96Val Disease rs121964886 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015272 p.Arg97Cys Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015273 p.Arg97Pro Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015274 p.Cys98Gly Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015275 p.Cys104Phe Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015276 p.Cys105Arg Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015277 p.Cys116Gly Disease rs74315383 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015278 p.Cys116Arg Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_015279 p.Cys105Tyr Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_019273 p.Val67Ala Disease rs28934878 Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_019274 p.Gly96Asp Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_019275 p.Cys104Gly Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_019276 p.Cys116Trp Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_029997 p.Cys58Phe Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_029998 p.Cys98Ser Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVP P01185 VAR_029999 p.Ala99Pro Disease - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] AVPR1A P37288 VAR_022065 p.Gly6Ser Polymorphism rs2228154 - AVPR1B P47901 VAR_025159 p.Lys65Asn Polymorphism rs35369693 - AVPR1B P47901 VAR_025160 p.Gly191Arg Polymorphism rs33990840 - AVPR1B P47901 VAR_025161 p.Ser267Gly Polymorphism rs36030374 - AVPR1B P47901 VAR_025162 p.Arg364His Polymorphism rs28632197 - AVPR1B P47901 VAR_061228 p.His224Gln Polymorphism rs3891058 - AVPR2 P30518 VAR_003516 p.Thr7Ser Polymorphism rs5196 - AVPR2 P30518 VAR_003517 p.Leu44Pro Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003519 p.Arg64Trp Polymorphism rs150351033 - AVPR2 P30518 VAR_003520 p.His80Arg Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003521 p.Val88Met Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003522 p.Arg106Cys Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003523 p.Cys112Arg Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003524 p.Arg113Trp Disease rs28935496 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003525 p.Ser126Phe Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003526 p.Tyr128Ser Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003527 p.Ala132Asp Disease rs104894747 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003528 p.Arg137His Disease rs104894756 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003529 p.Arg143Pro Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003530 p.Ala147Val Polymorphism rs5200 - AVPR2 P30518 VAR_003531 p.Trp164Ser Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003532 p.Ser167Leu Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003533 p.Ser167Thr Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003534 p.Arg181Cys Disease rs104894757 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003535 p.Gly185Cys Disease rs104894748 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003536 p.Arg202Cys Disease rs782806507 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003537 p.Arg203Cys Disease rs104894750 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003538 p.Tyr205Cys Disease rs104894749 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003541 p.Tyr280Cys Disease rs104894752 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003542 p.Ala285Pro Disease rs193922122 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003543 p.Pro286Leu Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003544 p.Pro286Arg Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003545 p.Leu292Pro Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003546 p.Leu309Pro Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003547 p.Asn317Lys Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_003548 p.Trp323Ser Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_011858 p.Ala42Val Polymorphism rs5198 - AVPR2 P30518 VAR_015296 p.Gly12Glu Polymorphism rs2071126 - AVPR2 P30518 VAR_015297 p.Leu43Pro Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015298 p.Ile46Lys Disease rs104894759 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015299 p.Leu53Arg Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015300 p.Asn55Asp Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015301 p.Asn55His Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015302 p.Leu59Pro Disease rs193922112 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015303 p.Ala61Val Polymorphism - - AVPR2 P30518 VAR_015304 p.Leu62Pro Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015305 p.Leu81Phe Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015306 p.Leu83Pro Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015307 p.Leu83Gln Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015308 p.Ala84Asp Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015309 p.Asp85Asn Disease rs104894754 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015310 p.Gln92Arg Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015311 p.Leu94Gln Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015312 p.Pro95Leu Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015313 p.Trp99Arg Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015314 p.Arg104Cys Disease rs104894760 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015315 p.Phe105Val Disease rs104894758 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015316 p.Gly107Glu Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015317 p.Cys112Tyr Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015318 p.Gly122Arg Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015319 p.Met123Lys Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015320 p.Ser127Phe Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015321 p.Ile130Phe Disease rs796052096 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015322 p.Leu135Pro Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015323 p.Arg139Ser Polymorphism - - AVPR2 P30518 VAR_015324 p.Ala163Pro Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015325 p.Pro173Ser Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015326 p.Gln174Leu Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015327 p.Asp191Gly Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015328 p.Gly201Asp Disease rs104894755 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015329 p.Thr204Asn Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015330 p.Val206Asp Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015331 p.Thr207Asn Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015332 p.Ile209Phe Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015333 p.Phe214Ser Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015334 p.Val215Met Polymorphism rs112109182 - AVPR2 P30518 VAR_015335 p.Pro217Thr Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015336 p.Leu219Pro Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015337 p.Leu219Arg Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015338 p.Arg252Trp Polymorphism rs61733407 - AVPR2 P30518 VAR_015339 p.Met272Lys Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015340 p.Val277Ala Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015341 p.Leu282Pro Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015342 p.Pro286Ser Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015343 p.Phe287Leu Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015344 p.Leu289Pro Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015345 p.Ala294Pro Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015346 p.Leu309Arg Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015347 p.Ser315Arg Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015348 p.Ser318Thr Polymorphism - - AVPR2 P30518 VAR_015349 p.Cys319Arg Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015350 p.Asn321Asp Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015351 p.Asn321Lys Disease rs193922123 Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015352 p.Asn321Tyr Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015353 p.Pro322His Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015354 p.Pro322Ser Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015355 p.Trp323Arg Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AVPR2 P30518 VAR_015356 p.Gly352Asp Polymorphism rs146350208 - AVPR2 P30518 VAR_025901 p.Arg137Cys Disease rs104894761 Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] AVPR2 P30518 VAR_025902 p.Arg137Leu Disease rs104894756 Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] AVPR2 P30518 VAR_035769 p.Arg247His Unclassified rs149668713 A breast cancer sample AVPR2 P30518 VAR_062591 p.Gly122Asp Disease - Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800] AXDND1 Q5T1B0 VAR_031841 p.Ala742Val Polymorphism rs17369441 - AXDND1 Q5T1B0 VAR_031842 p.Glu991Gln Polymorphism rs6425573 - AXDND1 Q5T1B0 VAR_050705 p.Ile522Leu Polymorphism rs11577579 - AXDND1 Q5T1B0 VAR_050706 p.Gln993Glu Polymorphism rs6658180 - AXIN1 O15169 VAR_015589 p.Leu106Arg Disease - Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015590 p.Pro345Leu Disease rs779951904 Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015591 p.Gly425Ser Disease rs116350678 Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015592 p.Gly650Ser Disease rs117208012 Hepatocellular carcinoma (HCC) [MIM:114550] AXIN1 O15169 VAR_015593 p.Arg841Gln Polymorphism rs34015754 - AXIN2 Q9Y2T1 VAR_054860 p.Ser50Pro Unclassified rs2240308 Polymorphism associated with increased risk of lung cancer AXL P30530 VAR_041877 p.Arg499Cys Unclassified rs747576071 A gastric adenocarcinoma sample AXL P30530 VAR_041878 p.Ser515Gly Polymorphism rs1240393707- AXL P30530 VAR_045596 p.Thr112Met Polymorphism rs35202236 - AXL P30530 VAR_045597 p.Arg295Trp Unclassified rs751738506 A lung neuroendocrine carcinoma sample AXL P30530 VAR_057990 p.Asp266Asn Polymorphism rs7249222 - AZIN2 Q96A70 VAR_050611 p.Ala288Ser Polymorphism rs16835244 - B2M P61769 VAR_030660 p.Ala11Pro Disease rs104894481 Immunodeficiency 43 (IMD43) [MIM:241600] B2M P61769 VAR_076691 p.Asp96Asn Disease rs398122820 Amyloidosis 8 (AMYL8) [MIM:105200] B3GALNT1 O75752 VAR_019646 p.Glu266Ala Polymorphism rs28937582 - B3GALNT1 O75752 VAR_019647 p.Gly271Arg Polymorphism rs104893683 - B3GALNT1 O75752 VAR_025091 p.Asp126Asn Polymorphism rs2231257 - B3GALNT2 Q8NCR0 VAR_035860 p.Asn203Ser Unclassified - A breast cancer sample B3GALNT2 Q8NCR0 VAR_069638 p.Gly247Glu Disease rs367543072 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] B3GALNT2 Q8NCR0 VAR_069639 p.Val252Gly Disease rs367543073 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] B3GALNT2 Q8NCR0 VAR_069640 p.Val268Met Disease rs367543074 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] B3GALNT2 Q8NCR0 VAR_069641 p.Arg292Pro Disease rs367543076 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] B3GALT5 Q9Y2C3 VAR_020460 p.Met85Thr Polymorphism rs3746887 - B3GALT5 Q9Y2C3 VAR_033536 p.Arg144His Polymorphism rs734411 - B3GALT5 Q9Y2C3 VAR_049347 p.Ser27Arg Polymorphism rs12627708 - B3GALT6 Q96L58 VAR_059317 p.Glu174Asp Polymorphism rs12085009 - B3GALT6 Q96L58 VAR_070132 p.Arg6Trp Disease rs397514722 Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2) [MIM:615349] B3GALT6 Q96L58 VAR_070133 p.Ser65Gly Disease rs397514719 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070134 p.Pro67Leu Disease rs397514720 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070136 p.Asp156Asn Disease rs397514718 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070137 p.Asp207His Disease rs397514723 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070138 p.Gly217Ser Disease rs397514724 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070139 p.Arg232Cys Disease rs397514717 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070140 p.Cys300Ser Disease rs786200939 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640] B3GALT6 Q96L58 VAR_070141 p.Ser309Thr Disease rs397514721 Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2) [MIM:615349] B3GAT1 Q9P2W7 VAR_044538 p.Ala131Thr Polymorphism rs35434644 - B3GAT3 O94766 VAR_066624 p.Arg277Gln Disease rs387906937 Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] B3GAT3 O94766 VAR_075370 p.Pro140Leu Disease rs879255269 Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] B3GAT3 O94766 VAR_075371 p.Gly223Ser Unclassified rs372487178 Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600] B3GLCT Q6Y288 VAR_027849 p.Glu370Lys Polymorphism rs1041073 - B3GNT3 Q9Y2A9 VAR_022644 p.Arg328His Polymorphism rs36686 - B3GNT3 Q9Y2A9 VAR_074178 p.Ile317Phe Polymorphism - - B3GNT4 Q9C0J1 VAR_032600 p.Pro6Ala Polymorphism rs7136356 - B3GNT4 Q9C0J1 VAR_032601 p.Ser83Thr Polymorphism rs1001178 - B3GNT4 Q9C0J1 VAR_032602 p.Leu87Pro Polymorphism rs35203505 - B3GNT7 Q8NFL0 VAR_029633 p.Val233Ile Polymorphism rs2290130 - B3GNT8 Q7Z7M8 VAR_049348 p.Ser137Gly Polymorphism rs284662 - B3GNTL1 Q67FW5 VAR_032603 p.Ala341Thr Polymorphism rs7225887 - B4GALNT1 Q00973 VAR_012052 p.Leu35Val Polymorphism rs774896 - B4GALNT1 Q00973 VAR_012053 p.Gly172Arg Polymorphism rs810205 - B4GALNT1 Q00973 VAR_049237 p.Ala516Val Polymorphism rs17454674 - B4GALNT1 Q00973 VAR_070235 p.Arg300Cys Disease rs756710480 Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195] B4GALNT1 Q00973 VAR_070236 p.Asp433Ala Disease rs879255242 Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195] B4GALNT2 Q8NHY0 VAR_035990 p.Pro459His Unclassified - A colorectal cancer sample B4GALNT2 Q8NHY0 VAR_049238 p.Ala40Asp Polymorphism rs7207403 - B4GALNT2 Q8NHY0 VAR_049239 p.Cys466Arg Polymorphism rs7224888 - B4GALNT3 Q6L9W6 VAR_027842 p.Gly59Ser Polymorphism rs2075033 - B4GALNT3 Q6L9W6 VAR_027843 p.Arg265Gln Polymorphism rs11063529 - B4GALNT3 Q6L9W6 VAR_027844 p.Lys411Arg Polymorphism rs7298766 - B4GALNT3 Q6L9W6 VAR_048717 p.Arg768Gln Polymorphism rs11063570 - B4GALNT3 Q6L9W6 VAR_048718 p.Arg992His Polymorphism rs36078145 - B4GALNT4 Q76KP1 VAR_061096 p.Ala67Val Polymorphism rs34063493 - B4GALNT4 Q76KP1 VAR_061097 p.Gly88Val Polymorphism rs11822725 - B4GALT1 P15291 VAR_054019 p.Arg21Trp Polymorphism rs1065764 - B4GALT1 P15291 VAR_054020 p.His257Arg Polymorphism rs9169 - B4GALT2 O60909 VAR_020487 p.Gln122His Polymorphism rs1859728 - B4GALT2 O60909 VAR_054021 p.Gly338Arg Polymorphism rs35904809 - B4GALT4 O60513 VAR_022697 p.Gln116Glu Polymorphism rs3764779 - B4GALT5 O43286 VAR_024468 p.Gly61Ser Polymorphism rs2273086 - B4GALT5 O43286 VAR_033538 p.Tyr371Asp Polymorphism rs35195217 - B4GALT5 O43286 VAR_054022 p.Asp368Asn Polymorphism rs235035 - B4GALT6 Q9UBX8 VAR_054023 p.Ile379Val Polymorphism rs34683195 - B4GALT7 Q9UBV7 VAR_010293 p.Ala186Asp Disease rs121917817 Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) [MIM:130070] B4GALT7 Q9UBV7 VAR_010294 p.Leu206Pro Disease rs121917818 Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) [MIM:130070] B4GAT1 O43505 VAR_025019 p.Thr253Ser Polymorphism rs35429253 - B4GAT1 O43505 VAR_069989 p.Asn390Asp Disease rs397509397 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287] B4GAT1 O43505 VAR_069990 p.Ala406Val Disease rs397509396 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287] B9D1 Q9UPM9 VAR_066995 p.Arg61Trp Polymorphism rs73980038 - B9D1 Q9UPM9 VAR_075700 p.Ser51Pro Polymorphism rs546359789 - B9D1 Q9UPM9 VAR_076974 p.Tyr32Cys Disease rs771170000 Joubert syndrome 27 (JBTS27) [MIM:617120] B9D1 Q9UPM9 VAR_076975 p.Arg156Gln Disease rs886038205 Joubert syndrome 27 (JBTS27) [MIM:617120] B9D2 Q9BPU9 VAR_036626 p.Ser101Arg Disease rs1487082103Meckel syndrome 10 (MKS10) [MIM:614175] B9D2 Q9BPU9 VAR_066996 p.Ile11Met Polymorphism rs2241714 - B9D2 Q9BPU9 VAR_080463 p.Leu36Pro Unclassified rs757863670 Joubert syndrome 34 (JBTS34) [MIM:614175] B9D2 Q9BPU9 VAR_080464 p.Pro74Ser Unclassified rs863225150 Joubert syndrome 34 (JBTS34) [MIM:614175] B9D2 Q9BPU9 VAR_080465 p.Gly155Ser Unclassified rs750436680 Joubert syndrome 34 (JBTS34) [MIM:614175] BAALC Q8WXS3 VAR_056741 p.Ser164Thr Polymorphism rs34542607 - BAAT Q14032 VAR_023737 p.Met76Val Disease rs28937579 Familial hypercholanemia (FHCA) [MIM:607748] BAAT Q14032 VAR_052303 p.Arg20Gln Polymorphism rs1572983 - BACE1 P56817 VAR_051509 p.Arg481Cys Polymorphism rs539765 - BACE1 P56817 VAR_060692 p.Val265Ala Polymorphism rs28989503 - BACH1 O14867 VAR_048441 p.Ser314Pro Polymorphism rs35474725 - BACH2 Q9BYV9 VAR_033535 p.Ala418Thr Polymorphism rs34335140 - BAD Q92934 VAR_015380 p.Ala107Ser Polymorphism rs3729933 - BAG3 O95817 VAR_048344 p.Arg71Gln Polymorphism rs35434411 - BAG3 O95817 VAR_048345 p.Cys151Arg Polymorphism rs2234962 - BAG3 O95817 VAR_048346 p.Ala405Val Polymorphism rs11199064 - BAG3 O95817 VAR_048347 p.Pro407Leu Polymorphism rs3858340 - BAG3 O95817 VAR_063089 p.Pro209Leu Disease rs121918312 Myopathy, myofibrillar, 6 (MFM6) [MIM:612954] BAG3 O95817 VAR_065479 p.Arg71Trp Disease rs387906874 Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] BAG3 O95817 VAR_065480 p.Arg477His Disease rs387906876 Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] BAG3 O95817 VAR_066777 p.Pro77Leu Polymorphism rs141355480 - BAG3 O95817 VAR_066778 p.Ile94Phe Polymorphism rs145393807 - BAG3 O95817 VAR_066779 p.Pro115Ser Polymorphism rs774241343 - BAG3 O95817 VAR_066780 p.Ala155Thr Polymorphism rs61756328 - BAG3 O95817 VAR_066781 p.Arg218Trp Disease rs397514506 Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] BAG3 O95817 VAR_066782 p.Arg258Trp Polymorphism rs117671123 - BAG3 O95817 VAR_066783 p.Asp300Asn Polymorphism rs78439745 - BAG3 O95817 VAR_066784 p.Pro380Ser Polymorphism rs144692954 - BAG3 O95817 VAR_066785 p.Glu455Lys Disease rs397516881 Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] BAG3 O95817 VAR_066786 p.Leu462Pro Disease rs397514507 Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] BAG3 O95817 VAR_066787 p.Val468Met Disease - Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] BAG3 O95817 VAR_066788 p.Glu553Asp Polymorphism rs763530097 - BAG5 Q9UL15 VAR_058712 p.Cys157Trp Polymorphism rs17854644 - BAG6 P46379 VAR_023531 p.Ser625Pro Polymorphism rs1052486 - BAG6 P46379 VAR_037150 p.Ala728Val Polymorphism rs11548856 - BAGE2 Q86Y30 VAR_059585 p.Arg95Thr Polymorphism rs2740327 - BAGE2 Q86Y30 VAR_059586 p.Arg106Gln Polymorphism rs9808647 - BAGE3 Q86Y29 VAR_059587 p.Arg95Thr Polymorphism rs2740327 - BAGE3 Q86Y29 VAR_059588 p.Gln106Arg Polymorphism rs9808647 - BAHCC1 Q9P281 VAR_050685 p.Arg2510Cys Polymorphism rs8746 - BAHCC1 Q9P281 VAR_059589 p.Thr1168Ala Polymorphism rs7213444 - BAHCC1 Q9P281 VAR_061559 p.Ala272Thr Polymorphism rs12952981 - BAHCC1 Q9P281 VAR_061560 p.Arg1434Gln Polymorphism rs35572189 - BAHCC1 Q9P281 VAR_061561 p.Thr1678Ala Polymorphism rs12601317 - BAHCC1 Q9P281 VAR_061562 p.Val2029Ile Polymorphism rs34680524 - BAHD1 Q8TBE0 VAR_032359 p.Glu26Gly Polymorphism rs3743143 - BAHD1 Q8TBE0 VAR_032360 p.Asp182His Polymorphism rs17856679 - BAHD1 Q8TBE0 VAR_032361 p.Gln298Lys Polymorphism rs3803357 - BAIAP2L1 Q9UHR4 VAR_033515 p.Ser460Thr Polymorphism rs2269966 - BAIAP2 Q9UQB8 VAR_050686 p.Gln519Arg Polymorphism rs4969391 - BAIAP3 O94812 VAR_026667 p.Asp582Ala Polymorphism rs1132356 - BAIAP3 O94812 VAR_050687 p.Ser879Ile Polymorphism rs36074509 - BAK1 Q16611 VAR_018829 p.Ala28Val Polymorphism rs4987115 - BAK1 Q16611 VAR_018830 p.Ser69Arg Polymorphism rs5745592 - BAK1 Q16611 VAR_048417 p.Arg42His Polymorphism rs1051911 - BANF1 O75531 VAR_065954 p.Ala12Thr Disease rs387906871 Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008] BANF2 Q9H503 VAR_013693 p.Thr78Ser Polymorphism rs1053993 - BANF2 Q9H503 VAR_024372 p.Asn3Asp Polymorphism rs4814640 - BANK1 Q8NDB2 VAR_027729 p.Arg61His Polymorphism rs10516487 - BANK1 Q8NDB2 VAR_027730 p.Ala383Thr Polymorphism rs3733197 - BANK1 Q8NDB2 VAR_027731 p.Cys650Arg Polymorphism rs3113676 - BAP1 Q92560 VAR_051517 p.Val616Glu Polymorphism rs35353781 - BAP1 Q92560 VAR_063498 p.Ala95Asp Unclassified - A lung cancer sample BAP1 Q92560 VAR_063499 p.Gly178Val Unclassified - A lung cancer sample BAP1 Q92560 VAR_065976 p.Ser63Cys Unclassified - - BAP1 Q92560 VAR_065977 p.Phe81Val Unclassified - - BAP1 Q92560 VAR_065978 p.Cys91Trp Unclassified - - BAP1 Q92560 VAR_065979 p.Glu315Ala Polymorphism rs149974450 - BAP1 Q92560 VAR_065980 p.Glu685Val Unclassified - - BAP1 Q92560 VAR_075251 p.Ile47Phe Unclassified - - BARD1 Q99728 VAR_010354 p.Pro24Ser Polymorphism rs1048108 - BARD1 Q99728 VAR_010355 p.Lys153Glu Polymorphism rs753377280 - BARD1 Q99728 VAR_010356 p.Val507Met Polymorphism rs2070094 - BARD1 Q99728 VAR_010357 p.Cys557Ser Polymorphism rs28997576 - BARD1 Q99728 VAR_010358 p.Gln564His Unclassified - An ovarian clear cell adenocarcinoma BARD1 Q99728 VAR_010359 p.Arg658Cys Polymorphism rs3738888 - BARD1 Q99728 VAR_010360 p.Val695Leu Unclassified rs111367604 A breast cancer sample BARD1 Q99728 VAR_010361 p.Ser761Asn Unclassified rs142155101 An uterine cancer sample BARD1 Q99728 VAR_020109 p.Ser241Cys Polymorphism rs3738885 - BARD1 Q99728 VAR_024611 p.Arg378Ser Polymorphism rs2229571 - BARD1 Q99728 VAR_028309 p.Ser728Phe Polymorphism rs13389423 - BARD1 Q99728 VAR_038371 p.Ser186Gly Polymorphism rs16852741 - BARD1 Q99728 VAR_038372 p.Cys645Arg Polymorphism rs2228456 - BARX1 Q9HBU1 VAR_010927 p.Ala48Thr Polymorphism rs191789925 - BASP1 P80723 VAR_048396 p.Ala76Val Polymorphism rs3733748 - BATF2 Q8N1L9 VAR_048443 p.Gly6Ser Polymorphism rs12419103 - BATF3 Q9NR55 VAR_039988 p.Val11Ile Polymorphism rs2202683 - BAX Q07812 VAR_007809 p.Gly67Arg Unclassified rs398122513 A T-cell acute lymphoblastic leukemia cell line BAX Q07812 VAR_013575 p.Gly11Glu Polymorphism rs555248599 - BAX Q07812 VAR_013576 p.Gly108Val Unclassified - A Burkitt lymphoma BAX Q07812 VAR_047053 p.Gly39Arg Polymorphism rs36017265 - BAZ1A Q9NRL2 VAR_028049 p.Asp344Glu Polymorphism rs1133285 - BAZ1A Q9NRL2 VAR_048423 p.Asn1366Lys Polymorphism rs1044140 - BAZ2A Q9UIF9 VAR_055548 p.Val498Glu Polymorphism rs2230579 - BAZ2B Q9UIF8 VAR_055549 p.Met71Thr Polymorphism rs10202670 - BAZ2B Q9UIF8 VAR_055550 p.Leu422Ser Polymorphism rs3213790 - BAZ2B Q9UIF8 VAR_055551 p.Pro530Leu Polymorphism rs3732287 - BAZ2B Q9UIF8 VAR_055552 p.Gly702Val Polymorphism rs2302924 - BAZ2B Q9UIF8 VAR_055553 p.Ser2024Asn Polymorphism rs415793 - BBOF1 Q8ND07 VAR_027815 p.Lys496Glu Polymorphism rs3742809 - BBOF1 Q8ND07 VAR_059618 p.Arg58Gln Polymorphism rs3784039 - BBOF1 Q8ND07 VAR_059619 p.Arg183Lys Polymorphism rs17182762 - BBOF1 Q8ND07 VAR_059620 p.Asp230Val Polymorphism rs3784038 - BBS10 Q8TAM1 VAR_026391 p.Arg34Pro Disease rs137852836 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026392 p.Arg49Trp Disease rs768933093 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026393 p.Cys91Trp Disease rs148374859 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026394 p.Leu170Ser Disease rs780916348 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026395 p.Cys195Trp Disease - Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026396 p.Tyr197Cys Disease rs756632517 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026397 p.Val240Gly Disease - Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026398 p.Leu308Phe Disease - Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026399 p.Ser311Ala Disease rs137852837 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026400 p.Ser329Leu Disease rs1000990130Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026401 p.Pro363Leu Disease rs938066133 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026402 p.Leu376Phe Polymorphism rs11109474 - BBS10 Q8TAM1 VAR_026403 p.Leu414Ser Disease rs786204575 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026404 p.Lys579Arg Disease rs141521925 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026405 p.Tyr613Cys Disease rs575957641 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026406 p.Tyr613His Disease rs141647931 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026407 p.Gly677Val Disease - Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_026408 p.Thr689Pro Disease rs759387000 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_052272 p.Pro539Leu Polymorphism rs35676114 - BBS10 Q8TAM1 VAR_066252 p.Leu55Pro Disease rs1460517643Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_066253 p.Asp142Asn Polymorphism rs142863601 - BBS10 Q8TAM1 VAR_066254 p.Lys188Thr Disease - Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_066255 p.Met255Ile Unclassified rs139658279 - BBS10 Q8TAM1 VAR_066256 p.Ala296Thr Unclassified rs150587582 - BBS10 Q8TAM1 VAR_066257 p.His410Gln Disease rs1447555059Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_066258 p.Leu600Ser Disease - Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_066259 p.Ala636Val Disease rs113224628 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_066260 p.Leu687Pro Disease - Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS10 Q8TAM1 VAR_066261 p.His715Arg Polymorphism rs769179905 - BBS10 Q8TAM1 VAR_075722 p.Val11Gly Disease rs137852838 Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] BBS12 Q6ZW61 VAR_034919 p.Ile39Thr Polymorphism rs138036823 - BBS12 Q6ZW61 VAR_034921 p.Glu126Asp Polymorphism rs309369 - BBS12 Q6ZW61 VAR_034922 p.Pro159Leu Unclassified rs1450190654Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_034923 p.Ile170Val Polymorphism rs1218692709- BBS12 Q6ZW61 VAR_034924 p.Lys195Arg Polymorphism rs17854892 - BBS12 Q6ZW61 VAR_034925 p.Asn238Lys Polymorphism rs17006082 - BBS12 Q6ZW61 VAR_034926 p.Ala289Pro Disease rs121918328 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_034927 p.Arg386Gln Polymorphism rs309370 - BBS12 Q6ZW61 VAR_034928 p.Ser429Thr Polymorphism rs7665271 - BBS12 Q6ZW61 VAR_034929 p.Asn461His Polymorphism rs10027479 - BBS12 Q6ZW61 VAR_034930 p.Asp467Asn Polymorphism rs13135778 - BBS12 Q6ZW61 VAR_034931 p.Arg484Lys Polymorphism rs35690634 - BBS12 Q6ZW61 VAR_034932 p.Gly540Val Disease rs1010403072Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_034933 p.Ala615Val Polymorphism rs17857451 - BBS12 Q6ZW61 VAR_062964 p.Ile346Thr Disease - Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_062965 p.Thr501Met Disease rs138011813 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066266 p.Leu88Arg Disease rs746271266 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066267 p.Gly119Ser Polymorphism rs77731085 - BBS12 Q6ZW61 VAR_066268 p.Tyr263His Polymorphism rs150040166 - BBS12 Q6ZW61 VAR_066269 p.Gln293Glu Disease - Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066270 p.Arg355Gln Disease rs1474900361Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066271 p.Val400Met Disease rs771136797 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066272 p.Lys408Arg Unclassified - - BBS12 Q6ZW61 VAR_066274 p.Tyr524Cys Unclassified rs770746493 - BBS12 Q6ZW61 VAR_066275 p.Arg525His Unclassified rs776730549 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066276 p.Gly539Asp Disease - Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12 Q6ZW61 VAR_066277 p.Arg674Cys Disease rs759088490 Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS1 Q8NFJ9 VAR_017215 p.Glu234Lys Disease rs35520756 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_017216 p.Met390Arg Disease rs113624356 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_017217 p.Leu518Pro Disease rs121917778 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038880 p.His35Arg Disease rs775990952 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038881 p.Lys53Glu Disease rs766602837 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038882 p.Asp148Asn Disease rs200688985 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038883 p.Arg160Gln Disease rs376894444 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038884 p.Gly305Ser Disease rs942862410 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038886 p.Tyr434Ser Disease - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038887 p.Leu503His Disease rs778225393 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_038888 p.Leu518Gln Disease - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_065554 p.Gly559Asp Polymorphism rs544767888 - BBS1 Q8NFJ9 VAR_066278 p.Ile330Thr Disease - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1 Q8NFJ9 VAR_066485 p.Leu206Val Polymorphism rs146052054 - BBS1 Q8NFJ9 VAR_066486 p.Pro245Leu Polymorphism rs151203205 - BBS2 Q9BXC9 VAR_013162 p.Asn70Ser Disease rs4784677 Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_013163 p.Val75Gly Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_013164 p.Asp104Ala Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_013164 p.Asp104Ala Disease - Retinitis pigmentosa 74 (RP74) [MIM:616562] BBS2 Q9BXC9 VAR_013165 p.Ile123Val Polymorphism rs11373 - BBS2 Q9BXC9 VAR_013166 p.Arg315Gln Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_013167 p.Arg315Trp Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_013168 p.Thr558Ile Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_013169 p.Arg632Pro Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_013169 p.Arg632Pro Disease - Retinitis pigmentosa 74 (RP74) [MIM:616562] BBS2 Q9BXC9 VAR_029747 p.Ala122Val Polymorphism rs17856449 - BBS2 Q9BXC9 VAR_029748 p.Ala504Val Polymorphism rs16957538 - BBS2 Q9BXC9 VAR_038889 p.Arg23Pro Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_038890 p.Asp174Glu Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_038891 p.Leu349Trp Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_038892 p.Arg643His Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_066280 p.Gly81Cys Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_066281 p.Leu125Arg Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_066282 p.Ala136Pro Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_066283 p.Cys307Trp Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_066284 p.Tyr317Cys Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS2 Q9BXC9 VAR_066285 p.Glu629Lys Unclassified - - BBS2 Q9BXC9 VAR_075726 p.Ala33Asp Disease - Retinitis pigmentosa 74 (RP74) [MIM:616562] BBS2 Q9BXC9 VAR_075727 p.Pro134Arg Disease - Retinitis pigmentosa 74 (RP74) [MIM:616562] BBS2 Q9BXC9 VAR_075728 p.Gly139Val Disease - Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] BBS4 Q96RK4 VAR_013170 p.Arg295Pro Disease rs121434632 Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_017049 p.Asn165His Disease - Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_017050 p.Leu327Pro Disease - Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_017051 p.Ala364Glu Disease rs28938468 Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_017052 p.Ser457Ile Disease - Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_017053 p.Met472Val Disease rs2277596 Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_017054 p.Ile354Thr Polymorphism rs2277598 - BBS4 Q96RK4 VAR_028722 p.Glu268Lys Polymorphism rs11638283 - BBS4 Q96RK4 VAR_028723 p.Ala393Val Polymorphism rs17852452 - BBS4 Q96RK4 VAR_038894 p.Lys46Arg Polymorphism rs75295839 - BBS4 Q96RK4 VAR_038895 p.Leu351Arg Disease - Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_038896 p.Asp368Gly Disease rs772548770 Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_038897 p.Pro503Leu Disease rs756419611 Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4 Q96RK4 VAR_066287 p.Glu61Lys Polymorphism rs1251827333- BBS4 Q96RK4 VAR_066288 p.Glu412Asp Polymorphism rs147202164 - BBS4 Q96RK4 VAR_066289 p.Thr488Lys Polymorphism rs561284402 - BBS5 Q8N3I7 VAR_025316 p.Asn184Ser Polymorphism rs137853921 - BBS5 Q8N3I7 VAR_025317 p.Arg207His Polymorphism rs35487251 - BBS5 Q8N3I7 VAR_066290 p.Gly72Ser Disease rs121908581 Bardet-Biedl syndrome 5 (BBS5) [MIM:615983] BBS5 Q8N3I7 VAR_066291 p.Asn251Asp Polymorphism rs143113298 - BBS5 Q8N3I7 VAR_072380 p.Thr183Ala Disease rs121908582 Bardet-Biedl syndrome 5 (BBS5) [MIM:615983] BBS7 Q8IWZ6 VAR_017212 p.Thr211Ile Disease rs119466002 Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] BBS7 Q8IWZ6 VAR_017213 p.His323Arg Disease rs119466001 Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] BBS7 Q8IWZ6 VAR_038893 p.Ile66Phe Disease - Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] BBS7 Q8IWZ6 VAR_065555 p.Tyr671Cys Polymorphism rs1013002037- BBS7 Q8IWZ6 VAR_066286 p.Gly63Arg Disease rs754579374 Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] BBS7 Q8IWZ6 VAR_066459 p.Gln293Pro Polymorphism rs889417696 - BBS9 Q3SYG4 VAR_026389 p.Gly141Arg Disease rs137852857 Bardet-Biedl syndrome 9 (BBS9) [MIM:615986] BBS9 Q3SYG4 VAR_026390 p.Ala455Val Polymorphism rs764873070 - BBS9 Q3SYG4 VAR_051289 p.Thr12Ala Polymorphism rs4498440 - BBS9 Q3SYG4 VAR_051290 p.Ala455Thr Polymorphism rs11773504 - BBS9 Q3SYG4 VAR_051291 p.Arg521Gln Polymorphism rs34218557 - BBS9 Q3SYG4 VAR_066292 p.Thr549Ile Polymorphism rs59252892 - BBS9 Q3SYG4 VAR_066293 p.Leu665Phe Polymorphism rs116262072 - BBS9 Q3SYG4 VAR_066294 p.Leu779Gln Polymorphism rs142434516 - BBX Q8WY36 VAR_061264 p.Pro576Ser Polymorphism rs59781647 - BCAM P50895 VAR_021348 p.Arg77His Polymorphism rs28399653 - BCAM P50895 VAR_021349 p.Val196Ile Polymorphism rs28399654 - BCAM P50895 VAR_021350 p.Met204Lys Polymorphism rs28399656 - BCAM P50895 VAR_021351 p.Arg282His Polymorphism rs9967601 - BCAM P50895 VAR_021352 p.Val381Ile Polymorphism rs28399626 - BCAM P50895 VAR_021353 p.Lys451Gln Polymorphism rs28399630 - BCAM P50895 VAR_021354 p.Thr539Ala Polymorphism rs1135062 - BCAM P50895 VAR_021355 p.Gln581Leu Polymorphism rs28399659 - BCAN Q96GW7 VAR_019551 p.Glu504Lys Polymorphism rs1056695 - BCAN Q96GW7 VAR_050123 p.Ser356Leu Polymorphism rs12065791 - BCAR1 P56945 VAR_035798 p.Ser407Thr Unclassified - A breast cancer sample BCAR1 P56945 VAR_057820 p.Arg491Leu Polymorphism rs16957558 - BCAR1 P56945 VAR_057821 p.His558Arg Polymorphism rs16957552 - BCAR1 P56945 VAR_058970 p.Pro76Ser Polymorphism rs1035539 - BCAR3 O75815 VAR_050689 p.Glu464Gly Polymorphism rs12062278 - BCAR3 O75815 VAR_050690 p.Gln593His Polymorphism rs17110107 - BCAS1 O75363 VAR_024251 p.Gly255Glu Polymorphism rs6022903 - BCAS1 O75363 VAR_026674 p.Gln24Lys Polymorphism rs394732 - BCAS1 O75363 VAR_026675 p.Val163Ala Polymorphism rs158551 - BCAS1 O75363 VAR_026676 p.Ser583Pro Polymorphism rs1055246 - BCAS1 O75363 VAR_050691 p.Gln472His Polymorphism rs35575210 - BCAS2 O75934 VAR_035799 p.Asn139Ser Unclassified rs1197668726A colorectal cancer sample BCAS3 Q9H6U6 VAR_057583 p.Ile106Val Polymorphism rs34712615 - BCAS3 Q9H6U6 VAR_065093 p.Asn87Ser Polymorphism rs2643103 - BCAS4 Q8TDM0 VAR_016031 p.Glu56Asp Polymorphism rs2272962 - BCAS4 Q8TDM0 VAR_059590 p.Arg173His Polymorphism rs7273412 - BCAT1 P54687 VAR_019614 p.Glu321Lys Polymorphism rs7313020 - BCAT1 P54687 VAR_047681 p.Thr59Met Polymorphism rs17374285 - BCAT1 P54687 VAR_047682 p.Gly330Ser Polymorphism rs1057204 - BCAT2 O15382 VAR_048234 p.Thr186Arg Polymorphism rs11548193 - BCCIP Q9P287 VAR_046642 p.Glu254Gln Polymorphism rs17153610 - BCDIN3D Q7Z5W3 VAR_032614 p.Ser288Arg Polymorphism rs11169172 - BCHE P06276 VAR_002360 p.Asp98Gly Disease rs1799807 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_002362 p.Leu358Ile Disease rs121918557 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_002364 p.Ala567Thr Disease rs1803274 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040012 p.Thr52Met Disease rs56309853 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040013 p.Phe56Ile Disease rs531738678 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040014 p.Tyr61Cys Disease rs116097205 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040015 p.Pro65Ser Disease rs148170012 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040016 p.Asp98His Disease - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040017 p.Asn124Tyr Disease rs1339128583Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040018 p.Pro128Ser Disease rs3732880 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040019 p.Gly143Asp Disease rs201820739 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040020 p.Leu153Phe Disease rs747598704 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040021 p.Tyr156Cys Disease rs121918558 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040022 p.Val170Met Disease rs527843566 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040023 p.Asp198Glu Disease rs781368801 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040024 p.Ser226Gly Disease rs370077923 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040025 p.Ala227Val Disease - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040026 p.Ala229Thr Disease - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040027 p.Thr271Met Disease rs28933389 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040028 p.Thr278Pro Disease rs892642457 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040029 p.Glu283Asp Polymorphism rs16849700 - BCHE P06276 VAR_040030 p.Lys295Arg Disease rs115624085 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040031 p.Leu335Pro Disease rs104893684 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040032 p.Ala356Asp Disease rs770337031 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040033 p.Gly393Arg Disease rs115129687 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040034 p.Arg414Cys Disease rs745364489 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040035 p.Gly418Val Disease rs28933390 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040036 p.Phe446Ser Disease - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040037 p.Glu488Lys Disease rs200998515 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040038 p.Trp499Arg Disease - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040039 p.Phe502Leu Disease rs769316835 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040040 p.Glu525Val Disease rs121918556 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040041 p.Arg543Cys Disease rs199660374 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_040042 p.Gln546Leu Disease - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_072094 p.Lys40Arg Polymorphism rs116047990 - BCHE P06276 VAR_072095 p.Gly103Arg Disease rs979653503 Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_072096 p.Glu118Asp Disease - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_072097 p.Ile127Met Polymorphism rs755600722 - BCHE P06276 VAR_072098 p.Val232Asp Disease - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_072099 p.Val322Met Polymorphism rs754644618 - BCHE P06276 VAR_072100 p.Gly361Cys Disease - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCHE P06276 VAR_072101 p.Arg498Trp Polymorphism rs115017300 - BCHE P06276 VAR_072730 p.Ala62Val Disease - Butyrylcholinesterase deficiency (BCHED) [MIM:617936] BCKDHA P12694 VAR_004968 p.Arg159Trp Disease rs769688327 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004969 p.Gln190Lys Disease - Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004970 p.Ala253Thr Disease rs199599175 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004971 p.Ile326Thr Disease - Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004972 p.Tyr413Cys Disease - Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_004973 p.Tyr438Asn Disease rs137852870 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_015101 p.Gly290Arg Disease rs137852871 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_015102 p.Phe409Cys Disease rs137852872 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_034360 p.Pro39His Polymorphism rs11549936 - BCKDHA P12694 VAR_034361 p.Thr151Met Polymorphism rs34442879 - BCKDHA P12694 VAR_069748 p.Thr211Met Disease rs398123503 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_069749 p.Ala220Val Disease rs375785084 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHA P12694 VAR_069750 p.Arg346Cys Disease rs182923857 Maple syrup urine disease 1A (MSUD1A) [MIM:248600] BCKDHB P21953 VAR_004974 p.His206Arg Disease - Maple syrup urine disease 1B (MSUD1B) [MIM:248600] BCKDHB P21953 VAR_024851 p.Arg183Pro Disease rs79761867 Maple syrup urine disease 1B (MSUD1B) [MIM:248600] BCKDHB P21953 VAR_024852 p.Gly278Ser Disease rs386834233 Maple syrup urine disease 1B (MSUD1B) [MIM:248600] BCKDHB P21953 VAR_050437 p.Thr41Ile Polymorphism rs35470366 - BCKDHB P21953 VAR_068348 p.Arg170His Disease rs371518124 Maple syrup urine disease 1B (MSUD1B) [MIM:248600] BCKDHB P21953 VAR_068349 p.Gln346Arg Disease - Maple syrup urine disease 1B (MSUD1B) [MIM:248600] BCKDK O14874 VAR_069037 p.Arg224Pro Disease rs147210405 Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923] BCKDK O14874 VAR_072184 p.Arg174Gly Disease - Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923] BCKDK O14874 VAR_072185 p.Leu389Pro Disease - Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923] BCL10 O95999 VAR_013208 p.Ala5Ser Unclassified rs12037217 - BCL10 O95999 VAR_013209 p.Val16Glu Unclassified - - BCL10 O95999 VAR_013210 p.Lys31Glu Unclassified - - BCL10 O95999 VAR_013211 p.Lys45Gln Polymorphism - - BCL10 O95999 VAR_013212 p.Thr52Ile Unclassified - - BCL10 O95999 VAR_013213 p.Cys57Arg Unclassified - - BCL10 O95999 VAR_013214 p.Arg58Gly Unclassified rs121918314 - BCL10 O95999 VAR_013215 p.Arg58Gln Polymorphism - - BCL10 O95999 VAR_013216 p.Arg64Lys Unclassified - - BCL10 O95999 VAR_013217 p.Asn93Ser Polymorphism - - BCL10 O95999 VAR_013218 p.Asp101Glu Unclassified - - BCL10 O95999 VAR_013219 p.Ser134Pro Unclassified - - BCL10 O95999 VAR_013220 p.Met153Val Polymorphism - - BCL10 O95999 VAR_013221 p.Thr168Ala Unclassified rs1384278393- BCL10 O95999 VAR_013222 p.Leu174Ser Unclassified - - BCL10 O95999 VAR_013224 p.Gly213Glu Unclassified rs3768235 - BCL10 O95999 VAR_013225 p.Ser218Phe Unclassified - - BCL10 O95999 VAR_013226 p.Val230Ile Unclassified - - BCL10 O95999 VAR_077898 p.Thr162Met Polymorphism rs200837308 - BCL11A Q9H165 VAR_035553 p.Ser142Phe Unclassified - A breast cancer sample BCL11A Q9H165 VAR_076921 p.Thr47Pro Disease rs886037864 Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101] BCL11A Q9H165 VAR_076922 p.Cys48Phe Disease rs886037865 Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101] BCL11A Q9H165 VAR_076923 p.His66Gln Disease rs886037866 Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101] BCL11B Q9C0K0 VAR_035554 p.Ser331Pro Unclassified - A colorectal cancer sample BCL11B Q9C0K0 VAR_065741 p.Glu32Val Unclassified - - BCL11B Q9C0K0 VAR_065742 p.Pro229Ser Polymorphism rs749837100 - BCL11B Q9C0K0 VAR_078423 p.Asn441Lys Disease rs750610248 Immunodeficiency 49 (IMD49) [MIM:617237] BCL11B Q9C0K0 VAR_081175 p.Asn807Lys Disease - Immunodeficiency 49 (IMD49) [MIM:617237] BCL2A1 Q16548 VAR_020342 p.Cys19Tyr Polymorphism rs1138357 - BCL2A1 Q16548 VAR_020343 p.Asn39Lys Polymorphism rs1138358 - BCL2A1 Q16548 VAR_020344 p.Gly82Asp Polymorphism rs3826007 - BCL2A1 Q16548 VAR_044059 p.Glu117Asp Polymorphism rs34080999 - BCL2L10 Q9HD36 VAR_047113 p.Leu11Arg Polymorphism rs2231292 - BCL2L12 Q9HB09 VAR_048419 p.Gly47Val Polymorphism rs2060263 - BCL2L13 Q9BXK5 VAR_024377 p.Ile55Val Polymorphism rs16981016 - BCL2L13 Q9BXK5 VAR_024378 p.Pro360Ser Polymorphism rs9306198 - BCL2L13 Q9BXK5 VAR_059141 p.Ile46Arg Polymorphism rs2587070 - BCL2L13 Q9BXK5 VAR_059142 p.Ile46Thr Polymorphism rs2587070 - BCL2L15 Q5TBC7 VAR_031475 p.Asp90Asn Polymorphism rs1217381 - BCL2L2 Q92843 VAR_048418 p.Gln133Arg Polymorphism rs910332 - BCL2 P10415 VAR_000827 p.Thr7Ser Polymorphism - - BCL2 P10415 VAR_000828 p.Pro59Ser Unclassified - Non-Hodgkin lymphoma BCL2 P10415 VAR_000829 p.Val93Ile Unclassified - Non-Hodgkin lymphoma BCL2 P10415 VAR_014716 p.Ala43Thr Polymorphism rs1800477 - BCL6 P41182 VAR_014825 p.His676Tyr Polymorphism rs1056936 - BCL6 P41182 VAR_019970 p.Ala493Thr Polymorphism rs2229362 - BCL6 P41182 VAR_052709 p.Asn252Ser Polymorphism rs34463990 - BCL7A Q4VC05 VAR_033539 p.Asn120Thr Polymorphism rs34821485 - BCL9 O00512 VAR_046545 p.Pro671Ser Polymorphism rs3820129 - BCL9 O00512 VAR_046546 p.Arg782Lys Polymorphism rs34002844 - BCLAF1 Q9NYF8 VAR_050692 p.Ser209Cys Polymorphism rs6940018 - BCLAF1 Q9NYF8 VAR_050693 p.Tyr459Asp Polymorphism rs1967446 - BCLAF1 Q9NYF8 VAR_050694 p.Leu461His Polymorphism rs1967445 - BCLAF1 Q9NYF8 VAR_050695 p.Asn629Ser Polymorphism rs7381749 - BCLAF1 Q9NYF8 VAR_050696 p.Arg875Cys Polymorphism rs34541670 - BCLAF1 Q9NYF8 VAR_059591 p.Gly66Ala Polymorphism rs9942517 - BCO1 Q9HAY6 VAR_048406 p.Arg267Ser Polymorphism rs12934922 - BCO1 Q9HAY6 VAR_048407 p.Ala379Val Polymorphism rs7501331 - BCO1 Q9HAY6 VAR_058112 p.Thr170Met Disease rs119478057 Hypercarotenemia and vitamin A deficiency, autosomal dominant (HCVAD) [MIM:115300] BCO2 Q9BYV7 VAR_047047 p.Leu231Pro Polymorphism rs10891338 - BCO2 Q9BYV7 VAR_047048 p.Gly289Glu Polymorphism rs17113607 - BCO2 Q9BYV7 VAR_047049 p.Ile548Leu Polymorphism rs2217401 - BCORL1 Q5H9F3 VAR_037467 p.Gly209Ser Polymorphism rs5932715 - BCORL1 Q5H9F3 VAR_037468 p.Gly832Asp Unclassified - A breast cancer sample BCORL1 Q5H9F3 VAR_061020 p.Phe111Leu Polymorphism rs4830173 - BCORL1 Q5H9F3 VAR_070559 p.Asn820Ser Unclassified - - BCORL1 Q5H9F3 VAR_080909 p.Thr327Ile Unclassified - - BCOR Q6W2J9 VAR_020921 p.Pro85Leu Disease rs121434618 Microphthalmia, syndromic, 2 (MCOPS2) [MIM:300166] BCR P11274 VAR_031552 p.Asn796Ser Polymorphism rs140504 - BCR P11274 VAR_031553 p.Glu1037Lys Polymorphism rs776552570 - BCR P11274 VAR_031554 p.Thr1127Met Polymorphism rs35812689 - BCR P11274 VAR_041883 p.Ser400Pro Unclassified - A bladder transitional cell carcinoma sample BCR P11274 VAR_041884 p.Ile413Met Polymorphism rs56321828 - BCR P11274 VAR_041885 p.Asp752Glu Polymorphism rs12484731 - BCR P11274 VAR_041886 p.Tyr910Cys Polymorphism rs35537221 - BCR P11274 VAR_041887 p.Val949Ile Polymorphism rs2229038 - BCR P11274 VAR_041888 p.Val1091Met Polymorphism rs778229520 - BCR P11274 VAR_041889 p.Thr1096Ala Polymorphism rs745459086 - BCR P11274 VAR_041890 p.Ala1104Gly Polymorphism rs11558696 - BCR P11274 VAR_041891 p.Asp1106Asn Polymorphism rs879255379 - BCR P11274 VAR_041892 p.Ala1149Thr Polymorphism rs200099830 - BCR P11274 VAR_041893 p.Glu1161Lys Polymorphism - - BCR P11274 VAR_041894 p.Lys1187Glu Polymorphism rs1195127922- BCR P11274 VAR_041895 p.Val1189Met Polymorphism rs55816482 - BCR P11274 VAR_041896 p.Ala1204Gly Polymorphism rs56265970 - BCR P11274 VAR_041897 p.Trp1235Arg Polymorphism rs55719322 - BCR P11274 VAR_051983 p.Lys558Thr Polymorphism rs4437065 - BCS1L Q9Y276 VAR_018149 p.Ser78Gly Disease rs28937590 GRACILE syndrome (GRACILE) [MIM:603358] BCS1L Q9Y276 VAR_018159 p.Pro99Leu Disease rs121908572 Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_018160 p.Arg144Gln Disease rs386833857 GRACILE syndrome (GRACILE) [MIM:603358] BCS1L Q9Y276 VAR_018161 p.Arg155Pro Disease rs121908573 Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_018162 p.Ser277Asn Disease rs121908571 Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_018163 p.Val327Ala Disease rs386833858 GRACILE syndrome (GRACILE) [MIM:603358] BCS1L Q9Y276 VAR_018164 p.Val353Met Disease rs121908574 Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_032086 p.Gly35Arg Disease rs121908579 Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032087 p.Arg45Cys Disease rs121908575 Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_032088 p.Arg114Trp Disease rs778769841 Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032089 p.Arg183His Disease rs121908577 Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032090 p.Arg184Cys Disease rs121908578 Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032090 p.Arg184Cys Disease rs121908578 Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_032091 p.Gln302Glu Disease rs1457171169Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_032092 p.Arg306His Disease rs1280810181Bjoernstad syndrome (BJS) [MIM:262000] BCS1L Q9Y276 VAR_064615 p.Thr50Ala Disease rs121908580 Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_064616 p.Arg73Cys Disease rs140812286 Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_064617 p.Arg183Cys Disease rs144885874 Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_064618 p.Phe368Ile Disease - Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_072243 p.Gly129Arg Disease rs1057521059Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] BCS1L Q9Y276 VAR_072244 p.Tyr301Asn Disease rs587777278 Bjoernstad syndrome (BJS) [MIM:262000] BDH2 Q9BUT1 VAR_023602 p.Asn70Ser Polymorphism rs1054707 - BDKRB1 P46663 VAR_014359 p.Ala250Val Polymorphism rs2229459 - BDKRB1 P46663 VAR_049376 p.Arg317Gln Polymorphism rs8004609 - BDKRB2 P30411 VAR_003457 p.Arg14Cys Polymorphism rs1046248 - BDKRB2 P30411 VAR_012284 p.Gly354Glu Polymorphism rs2227279 - BDNF P23560 VAR_004626 p.Val66Met Polymorphism rs6265 - BDNF P23560 VAR_011797 p.Gln75His Polymorphism rs1048218 - BDNF P23560 VAR_011798 p.Arg125Met Polymorphism rs1048220 - BDNF P23560 VAR_011799 p.Arg127Leu Polymorphism rs1048221 - BDNF P23560 VAR_018260 p.Thr2Ile Disease rs8192466 Congenital central hypoventilation syndrome (CCHS) [MIM:209880] BDNF P23560 VAR_080766 p.Met122Thr Unclassified rs765594245 - BDP1 A6H8Y1 VAR_043312 p.Asp38Glu Polymorphism rs3748043 - BDP1 A6H8Y1 VAR_043313 p.Arg757Cys Polymorphism rs3761966 - BDP1 A6H8Y1 VAR_043314 p.Val778Met Polymorphism rs3761967 - BDP1 A6H8Y1 VAR_043315 p.Ile1264Met Polymorphism rs715747 - BDP1 A6H8Y1 VAR_043316 p.Val1347Met Polymorphism rs6886336 - BDP1 A6H8Y1 VAR_043317 p.Lys1469Glu Polymorphism rs1698063 - BDP1 A6H8Y1 VAR_043318 p.Ile2013Leu Polymorphism rs6453014 - BDP1 A6H8Y1 VAR_056743 p.Asn26Ser Polymorphism rs3748042 - BDP1 A6H8Y1 VAR_056744 p.Ala125Val Polymorphism rs9687593 - BDP1 A6H8Y1 VAR_056745 p.Lys722Glu Polymorphism rs36009281 - BDP1 A6H8Y1 VAR_056746 p.Gly1180Ser Polymorphism rs715748 - BDP1 A6H8Y1 VAR_056747 p.Phe1244Ile Polymorphism rs1961760 - BDP1 A6H8Y1 VAR_056748 p.Gln1676Glu Polymorphism rs12187098 - BDP1 A6H8Y1 VAR_056749 p.Asn2555Ser Polymorphism rs17276250 - BECN1 Q14457 VAR_005236 p.Ile403Thr Polymorphism - - BECN1 Q14457 VAR_010384 p.Ala103Val Polymorphism - - BEND2 Q8NDZ0 VAR_022885 p.Phe154Leu Polymorphism rs17274127 - BEND2 Q8NDZ0 VAR_050935 p.Ser188Phe Polymorphism rs12859329 - BEND7 Q8N7W2 VAR_035501 p.Arg313Thr Unclassified - A breast cancer sample BEND7 Q8N7W2 VAR_057830 p.Asn341Ser Polymorphism rs12247033 - BEST1 O76090 VAR_000830 p.Thr6Pro Disease rs28940275 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000831 p.Val9Ala Disease rs281865205 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000832 p.Val9Met Disease rs28940276 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000833 p.Ala10Thr Disease rs281865206 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000834 p.Leu21Val Disease rs281865212 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000835 p.Trp24Cys Disease rs281865213 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000836 p.Arg25Gln Disease rs281865215 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000837 p.Arg25Trp Disease rs281865214 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000838 p.Ser27Arg Disease rs281865216 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000839 p.Gln58Leu Disease rs281865529 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000840 p.Leu67Val Polymorphism - - BEST1 O76090 VAR_000841 p.Tyr85His Disease rs28940274 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000842 p.Arg92Ser Disease rs281865224 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000843 p.Trp93Cys Disease rs28940273 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000844 p.Asn99Lys Disease rs281865227 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000845 p.Leu100Arg Disease rs281865228 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000846 p.Asp104Glu Disease rs281865232 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000847 p.Arg141His Disease rs121918284 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_000847 p.Arg141His Disease rs121918284 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000848 p.Ser209Asn Disease rs281865237 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000849 p.Arg218Cys Disease rs281865238 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000850 p.Arg218Gln Disease - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000851 p.Arg218Ser Disease rs281865238 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000852 p.Leu224Met Disease rs281865242 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000853 p.Tyr227Cys Disease rs267606677 Retinitis pigmentosa 50 (RP50) [MIM:613194] BEST1 O76090 VAR_000854 p.Tyr227Asn Disease rs28941469 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000855 p.Ser231Arg Disease rs281865244 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000856 p.Val235Met Disease rs281865245 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000857 p.Thr237Arg Disease rs281865246 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000858 p.Ala243Val Disease rs28940570 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000860 p.Pro297Ala Disease rs1805143 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000861 p.Gly299Glu Disease rs28941468 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000862 p.Glu300Lys Disease rs281865258 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000863 p.Asp301Glu Disease rs281865261 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000864 p.Asp301Asn Disease rs281865259 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000865 p.Phe305Ser Disease rs281865265 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000866 p.Ile310Thr Disease rs281865271 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000867 p.Val311Gly Disease - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_000868 p.Asp312Asn Disease rs281865277 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_000868 p.Asp312Asn Disease rs281865277 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_009278 p.Glu578Val Polymorphism rs1800010 - BEST1 O76090 VAR_010468 p.Ala10Val Disease rs281865207 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010469 p.Arg13His Disease rs281865209 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010470 p.Ser16Phe Disease rs281865210 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010471 p.Phe17Cys Disease rs281865211 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010472 p.Ile73Asn Disease - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010473 p.Leu82Val Disease rs281865530 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010474 p.Arg92Cys Disease rs281865224 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010475 p.Arg92His Disease rs281865225 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010476 p.Gln96His Disease rs281865226 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010477 p.Glu119Gln Polymorphism rs1805142 - BEST1 O76090 VAR_010478 p.Gly135Ser Disease rs281865234 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010479 p.Ala146Lys Disease rs1800995 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010480 p.Thr216Ile Polymorphism rs281865275 - BEST1 O76090 VAR_010481 p.Arg218His Disease rs281865239 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010482 p.Val235Leu Disease rs281865245 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010483 p.Gln293Lys Disease rs281865250 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010484 p.Asn296Ser Disease rs281865255 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010485 p.Pro297Ser Disease rs1805143 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010486 p.Glu300Asp Disease rs1805144 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010487 p.Thr307Ile Disease rs281865269 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_010488 p.Glu525Ala Polymorphism rs200582915 - BEST1 O76090 VAR_010489 p.Glu557Lys Polymorphism rs147192139 - BEST1 O76090 VAR_010490 p.Thr561Ala Polymorphism rs281865283 - BEST1 O76090 VAR_010491 p.Leu567Phe Unclassified rs148060787 - BEST1 O76090 VAR_017366 p.Thr6Arg Disease rs281865204 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017367 p.Asn11Ile Disease rs281865208 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017368 p.Gly26Arg Disease - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017369 p.Tyr29His Disease rs281865217 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017370 p.Lys30Arg Disease rs281865218 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017371 p.Leu41Pro Disease rs121918288 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_017371 p.Leu41Pro Disease rs121918288 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017372 p.Arg47His Disease rs28940278 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017373 p.Phe80Leu Disease rs281865221 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017374 p.Val89Ala Disease - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017375 p.Thr91Ile Disease rs281865223 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017376 p.Pro101Thr Disease rs281865229 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017377 p.Trp102Arg Disease rs281865230 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017378 p.Asp104His Disease rs281865231 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017379 p.Asn133Lys Disease rs281865233 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017380 p.Leu140Arg Disease rs281865235 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_017381 p.Ala195Val Disease rs200277476 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_017381 p.Ala195Val Disease rs200277476 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025731 p.Arg105Cys Polymorphism rs281865273 - BEST1 O76090 VAR_025732 p.Phe113Leu Disease rs1445469923Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025733 p.Ile201Thr Disease rs199529046 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025734 p.Leu207Ile Disease rs74653691 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025735 p.Cys221Trp Disease rs281865240 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025736 p.Gly222Val Polymorphism rs281865241 - BEST1 O76090 VAR_025737 p.Leu224Pro Disease rs281865243 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025738 p.Thr241Asn Disease rs281865247 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025739 p.Ala243Thr Disease rs137853905 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025740 p.Val275Ile Polymorphism rs281865276 - BEST1 O76090 VAR_025741 p.Phe276Leu Disease rs281865248 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025742 p.Leu294Val Disease rs281865251 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025743 p.Ile295Thr Disease rs281865253 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025744 p.Asn296His Disease rs281865254 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025745 p.Phe298Ser Disease rs281865257 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025746 p.Asp302Gly Disease rs281865263 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025747 p.Asp302His Disease rs281865262 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025748 p.Asp302Val Disease rs281865263 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025749 p.Asp303Glu Disease rs281865264 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025750 p.Glu306Asp Disease rs281865267 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025751 p.Glu306Gly Disease rs281865266 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025752 p.Thr307Ala Disease rs281865268 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_025753 p.Asn308Ser Disease rs281865270 Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_043493 p.Pro152Ala Disease rs1417478879Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_043494 p.Val317Met Disease rs121918287 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_043495 p.Met325Thr Disease rs368387447 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_043496 p.Ala357Val Polymorphism rs17854138 - BEST1 O76090 VAR_058273 p.Ile3Thr Disease - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_058274 p.Val86Met Disease rs121918289 Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [MIM:193220] BEST1 O76090 VAR_058275 p.Tyr236Cys Disease rs121918291 Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [MIM:193220] BEST1 O76090 VAR_058276 p.Val239Met Disease rs121918290 Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [MIM:193220] BEST1 O76090 VAR_058277 p.Val242Met Disease - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_058313 p.Gly299Ala Disease - Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700] BEST1 O76090 VAR_063169 p.Leu140Val Disease rs267606678 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_063169 p.Leu140Val Disease rs267606678 Retinitis pigmentosa 50 (RP50) [MIM:613194] BEST1 O76090 VAR_063170 p.Ile205Thr Disease rs267606680 Retinitis pigmentosa 50 (RP50) [MIM:613194] BEST1 O76090 VAR_063171 p.Asp228Asn Disease rs267606676 Retinitis pigmentosa 50 (RP50) [MIM:613194] BEST1 O76090 VAR_075346 p.Leu40Pro Unclassified - Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST1 O76090 VAR_075347 p.Arg202Trp Disease rs765998048 Bestrophinopathy, autosomal recessive (ARB) [MIM:611809] BEST3 Q8N1M1 VAR_048409 p.Tyr43His Polymorphism rs1025016 - BEST3 Q8N1M1 VAR_048410 p.Glu622Gly Polymorphism rs17106884 - BEST4 Q8NFU0 VAR_048411 p.Tyr62Cys Polymorphism rs16832245 - BEST4 Q8NFU0 VAR_048412 p.Tyr217Ser Polymorphism rs16832242 - BEST4 Q8NFU0 VAR_048413 p.Gln331Glu Polymorphism rs16832241 - BEST4 Q8NFU0 VAR_048414 p.Arg402Leu Polymorphism rs16832239 - BEX1 Q9HBH7 VAR_025756 p.Ala40Val Polymorphism rs709036 - BEX1 Q9HBH7 VAR_025757 p.Met66Ile Polymorphism rs1045082 - BEX1 Q9HBH7 VAR_042667 p.Val9Leu Polymorphism rs3174500 - BEX1 Q9HBH7 VAR_042668 p.Ser11Asn Polymorphism rs1045058 - BEX1 Q9HBH7 VAR_042669 p.Ser13Ile Polymorphism rs1045061 - BEX1 Q9HBH7 VAR_042670 p.Met14Val Polymorphism rs1045063 - BEX1 Q9HBH7 VAR_042671 p.Ala17Val Polymorphism rs1045065 - BFAR Q9NZS9 VAR_052075 p.Met140Arg Polymorphism rs11546303 - BFAR Q9NZS9 VAR_052076 p.Arg245His Polymorphism rs35377618 - BFSP1 Q12934 VAR_024492 p.Gly345Ser Polymorphism rs6080719 - BFSP1 Q12934 VAR_036683 p.Asp656Glu Polymorphism rs16999317 - BFSP1 Q12934 VAR_078861 p.Asp348Asn Disease - Cataract 33, multiple types (CTRCT33) [MIM:611391] BFSP2 Q13515 VAR_012164 p.Arg287Trp Disease rs104893685 Cataract 12, multiple types (CTRCT12) [MIM:611597] BGLAP P02818 VAR_038743 p.Arg94Gln Polymorphism rs34702397 - BGN P21810 VAR_036605 p.Arg266Thr Unclassified - A breast cancer sample BGN P21810 VAR_036606 p.Lys288Asn Unclassified - A breast cancer sample BGN P21810 VAR_076590 p.Lys147Glu Disease rs879255604 Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) [MIM:300106] BGN P21810 VAR_076591 p.Gly259Val Disease rs879255605 Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) [MIM:300106] BGN P21810 VAR_078028 p.Gly80Ser Unclassified rs886037825 Meester-Loeys syndrome (MRLS) [MIM:300989] BGN P21810 VAR_078029 p.Gln303Pro Unclassified rs886037824 Meester-Loeys syndrome (MRLS) [MIM:300989] BHLHA9 Q7RTU4 VAR_073333 p.Asn71Asp Disease rs672601337 Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) [MIM:609432] BHLHA9 Q7RTU4 VAR_073334 p.Arg73Pro Disease rs672601338 Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) [MIM:609432] BHLHA9 Q7RTU4 VAR_073335 p.Arg75Leu Disease rs672601339 Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) [MIM:609432] BHLHA9 Q7RTU4 VAR_077086 p.Glu74Leu Unclassified rs886037856 Camptosynpolydactyly, complex (CCSPD) [MIM:607539] BHLHB9 Q6PI77 VAR_049266 p.Ser132Gly Polymorphism rs2179675 - BHLHB9 Q6PI77 VAR_049267 p.Cys318Arg Polymorphism rs4514179 - BHLHE22 Q8NFJ8 VAR_061255 p.Ser28Ala Polymorphism rs7016250 - BHLHE41 Q9C0J9 VAR_063259 p.Pro384Arg Polymorphism rs121912617 - BHMT Q93088 VAR_015886 p.Arg239Gln Polymorphism rs3733890 - BHMT Q93088 VAR_061345 p.Gly199Ser Polymorphism rs59866108 - BICC1 Q9H694 VAR_029658 p.Gly8Asp Polymorphism rs7905025 - BICC1 Q9H694 VAR_033542 p.Ser943Pro Polymorphism rs4948550 - BICC1 Q9H694 VAR_060133 p.Asn945Ser Polymorphism rs7895817 - BICC1 Q9H694 VAR_066759 p.Asn711Thr Polymorphism rs138916713 - BICC1 Q9H694 VAR_066760 p.Glu932Gly Disease rs387907124 Renal dysplasia, cystic (CYSRD) [MIM:601331] BICC1 Q9H694 VAR_072077 p.Met270Val Unclassified rs753582128 - BICD1 Q96G01 VAR_069060 p.Thr778Ala Polymorphism rs200845476 - BICD2 Q8TD16 VAR_070111 p.Lys90Arg Polymorphism rs61754130 - BICD2 Q8TD16 VAR_070112 p.Ser107Leu Disease rs398123028 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] BICD2 Q8TD16 VAR_070113 p.Asn188Thr Disease rs398123029 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] BICD2 Q8TD16 VAR_070114 p.Ile189Phe Disease - Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] BICD2 Q8TD16 VAR_070115 p.Arg501Pro Disease rs398123032 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] BICD2 Q8TD16 VAR_070116 p.Lys508Thr Disease rs398123031 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] BICD2 Q8TD16 VAR_070117 p.Thr703Met Disease rs371707778 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] BICD2 Q8TD16 VAR_070118 p.Glu774Gly Disease rs398123030 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] BICDL2 A1A5D9 VAR_034978 p.Gln273Arg Polymorphism rs2244494 - BICDL2 A1A5D9 VAR_060543 p.Gln55Glu Polymorphism rs7204908 - BICRA Q9NZM4 VAR_059665 p.Thr1044Ala Polymorphism rs13346368 - BICRA Q9NZM4 VAR_061663 p.Pro683Ser Polymorphism rs3745762 - BID P55957 VAR_018845 p.Ser10Gly Polymorphism rs8190315 - BID P55957 VAR_025332 p.His162Gln Polymorphism rs17853595 - BID P55957 VAR_061041 p.Met194Thr Polymorphism rs59225839 - BIK Q13323 VAR_029179 p.Glu19Lys Polymorphism rs4988415 - BIK Q13323 VAR_029180 p.Leu148Pro Polymorphism rs11574527 - BIK Q13323 VAR_048420 p.Thr26Ile Polymorphism rs11090143 - BIN1 O00499 VAR_037425 p.Lys35Asn Disease rs121909273 Myopathy, centronuclear, 2 (CNM2) [MIM:255200] BIN1 O00499 VAR_037426 p.Asp151Asn Disease rs121909274 Myopathy, centronuclear, 2 (CNM2) [MIM:255200] BIN1 O00499 VAR_081081 p.Arg24Cys Disease - - BIN1 O00499 VAR_081082 p.Arg145Cys Disease - Myopathy, centronuclear, 2 (CNM2) [MIM:255200] BIN1 O00499 VAR_081083 p.Arg154Gln Disease - Myopathy, centronuclear, 2 (CNM2) [MIM:255200] BIN1 O00499 VAR_081084 p.Arg234Cys Disease - Myopathy, centronuclear, 2 (CNM2) [MIM:255200] BIN2 Q9UBW5 VAR_028883 p.Ser48Asn Polymorphism rs7312857 - BIN2 Q9UBW5 VAR_028884 p.Asn529Asp Polymorphism rs7954976 - BIRC2 Q13490 VAR_025016 p.Met453Val Polymorphism rs370745983 - BIRC2 Q13490 VAR_025017 p.Ala506Val Polymorphism rs34510872 - BIRC2 Q13490 VAR_025018 p.Pro549Ser Polymorphism rs35494784 - BIRC2 Q13490 VAR_049535 p.Met453Ile Polymorphism rs34749508 - BIRC3 Q13489 VAR_021069 p.Lys260Arg Polymorphism rs2276113 - BIRC3 Q13489 VAR_021070 p.Arg401Lys Polymorphism rs17881197 - BIRC3 Q13489 VAR_049536 p.Val386Met Polymorphism rs12222256 - BIRC5 O15392 VAR_021071 p.Lys129Glu Polymorphism rs2071214 - BIRC7 Q96CA5 VAR_020253 p.Glu223Gln Polymorphism rs1077019 - BIRC8 Q96P09 VAR_028282 p.His196Tyr Polymorphism rs8109165 - BIRC8 Q96P09 VAR_055944 p.Ala156Thr Polymorphism rs35880972 - BIRC8 Q96P09 VAR_055945 p.Leu165Ser Polymorphism rs34092035 - BIRC8 Q96P09 VAR_055946 p.Ala225Thr Polymorphism rs35700345 - BIRC8 Q96P09 VAR_055947 p.Ala225Val Polymorphism rs34683072 - BLCAP P62952 VAR_068908 p.Tyr2Cys Polymorphism rs11557677 - BLCAP P62952 VAR_068909 p.Gln5Arg Unclassified - - BLCAP P62952 VAR_068910 p.Lys15Arg Polymorphism rs11557676 - BLID Q8IZY5 VAR_056750 p.Ala76Asp Polymorphism rs7116084 - BLK P51451 VAR_041672 p.Thr48Ile Polymorphism rs35339715 - BLK P51451 VAR_041673 p.Ala71Thr Polymorphism rs55758736 - BLMH Q13867 VAR_010896 p.Ile443Val Polymorphism rs1050565 - BLM P54132 VAR_006901 p.Gln672Arg Disease rs747281324 Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_006902 p.Thr843Ile Disease rs137853152 Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_006903 p.Cys1055Ser Disease rs367543029 Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_009138 p.Gly891Glu Disease - Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_009139 p.Cys901Tyr Disease rs758311406 Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_009140 p.Cys1036Phe Disease rs137853153 Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_014912 p.Ser1209Thr Polymorphism rs1801256 - BLM P54132 VAR_016032 p.Ile841Thr Disease rs767086502 Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_016033 p.Cys878Arg Disease - Bloom syndrome (BLM) [MIM:210900] BLM P54132 VAR_022295 p.Lys137Arg Polymorphism rs28384988 - BLM P54132 VAR_022296 p.Thr298Met Polymorphism rs28384991 - BLM P54132 VAR_022297 p.Arg591Gln Polymorphism rs28385012 - BLM P54132 VAR_022298 p.Pro868Leu Polymorphism rs2227935 - BLM P54132 VAR_022299 p.Val1205Ile Polymorphism rs28385141 - BLM P54132 VAR_022300 p.Glu1213Lys Polymorphism rs28385142 - BLM P54132 VAR_022301 p.Val1321Ile Polymorphism rs7167216 - BLM P54132 VAR_051731 p.Ala1043Asp Polymorphism rs2229035 - BLOC1S2 Q6QNY1 VAR_054068 p.Ser13Arg Polymorphism rs33965491 - BLVRA P53004 VAR_014851 p.Gln56Arg Polymorphism rs1050916 - BLVRA P53004 VAR_019230 p.Ala3Thr Polymorphism rs699512 - BLVRA P53004 VAR_019231 p.Leu37Val Polymorphism rs17245918 - BLVRB P30043 VAR_019168 p.Arg46Gln Polymorphism rs11547746 - BLZF1 Q9H2G9 VAR_028142 p.Gln40Arg Polymorphism rs1028180 - BLZF1 Q9H2G9 VAR_028143 p.Arg196Gln Polymorphism rs1064274 - BMI1 P35226 VAR_052087 p.Cys18Tyr Polymorphism rs1042059 - BMP10 O95393 VAR_052572 p.Thr200Ser Polymorphism rs2231342 - BMP10 O95393 VAR_052573 p.Asn250Lys Polymorphism rs2231345 - BMP15 O95972 VAR_021195 p.Tyr235Cys Disease rs104894765 Ovarian dysgenesis 2 (ODG2) [MIM:300510] BMP15 O95972 VAR_058974 p.Ser5Arg Polymorphism rs113099187 - BMP15 O95972 VAR_058975 p.Arg61Gln Disease - Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058976 p.Arg61Trp Disease rs144392417 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058977 p.Arg68Trp Disease rs104894763 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058978 p.Arg76Cys Disease rs104894766 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058979 p.Arg76His Disease - Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058980 p.Asn103Ser Polymorphism rs41308602 - BMP15 O95972 VAR_058981 p.Arg138His Disease rs371418883 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058982 p.Leu148Pro Disease rs114823607 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058983 p.Ala180Phe Unclassified - - BMP15 O95972 VAR_058984 p.Ala180Thr Unclassified rs104894767 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058985 p.Asn196Lys Disease - Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058986 p.Arg206His Disease rs782516193 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058987 p.Trp221Arg Disease rs375284458 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_058988 p.Ile243Val Disease rs782379521 Premature ovarian failure 4 (POF4) [MIM:300510] BMP15 O95972 VAR_066932 p.His200Tyr Polymorphism rs202165852 - BMP15 O95972 VAR_066933 p.Arg329Cys Disease rs782375794 Premature ovarian failure 4 (POF4) [MIM:300510] BMP1 P13497 VAR_036141 p.Asp45His Unclassified - A breast cancer sample BMP1 P13497 VAR_051584 p.Val719Ile Polymorphism rs11996036 - BMP1 P13497 VAR_067224 p.Phe249Leu Disease rs398122891 Osteogenesis imperfecta 13 (OI13) [MIM:614856] BMP1 P13497 VAR_069096 p.Gly12Arg Disease rs318240762 Osteogenesis imperfecta 13 (OI13) [MIM:614856] BMP1 P13497 VAR_072248 p.Met270Val Disease rs786205219 Osteogenesis imperfecta 13 (OI13) [MIM:614856] BMP2K Q9NSY1 VAR_040388 p.Val68Met Unclassified rs770167074 A lung squamous cell carcinoma sample BMP2K Q9NSY1 VAR_040389 p.Asp212Val Polymorphism rs56143363 - BMP2K Q9NSY1 VAR_040390 p.Arg288His Polymorphism rs55782848 - BMP2K Q9NSY1 VAR_051618 p.Gly405Ser Polymorphism rs2288255 - BMP2K Q9NSY1 VAR_051619 p.Thr1002Ser Polymorphism rs12507099 - BMP2K Q9NSY1 VAR_059765 p.Gln486His Polymorphism rs2114202 - BMP2 P12643 VAR_020061 p.Ser37Ala Polymorphism rs2273073 - BMP2 P12643 VAR_020062 p.Ala106Thr Polymorphism rs2273074 - BMP2 P12643 VAR_024232 p.Arg190Ser Polymorphism rs235768 - BMP2 P12643 VAR_052568 p.Pro77Ser Polymorphism rs36105541 - BMP2 P12643 VAR_052569 p.Leu161Ser Polymorphism rs34183594 - BMP2 P12643 VAR_052570 p.Asp387Gly Polymorphism rs11545591 - BMP3 P12645 VAR_020063 p.Arg192Gln Polymorphism rs3733549 - BMP3 P12645 VAR_047418 p.Gln176Lys Polymorphism rs34213771 - BMP3 P12645 VAR_047419 p.Gln176Leu Polymorphism rs34847147 - BMP3 P12645 VAR_047420 p.Leu205Phe Polymorphism rs6831040 - BMP3 P12645 VAR_047421 p.Thr222Met Polymorphism rs34505126 - BMP4 P12644 VAR_016174 p.Val152Ala Polymorphism rs17563 - BMP4 P12644 VAR_043531 p.Ser91Cys Disease rs121912767 Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] BMP4 P12644 VAR_043532 p.Glu93Gly Disease rs121912765 Microphthalmia, syndromic, 6 (MCOPS6) [MIM:607932] BMP4 P12644 VAR_043533 p.Thr116Ser Polymorphism rs750427266 - BMP4 P12644 VAR_043534 p.Asn150Lys Polymorphism rs767216159 - BMP4 P12644 VAR_043535 p.Thr225Ala Polymorphism rs144556455 - BMP4 P12644 VAR_043536 p.Arg226Trp Polymorphism rs140590144 - BMP4 P12644 VAR_043537 p.Ser367Thr Polymorphism rs1320581580- BMP4 P12644 VAR_058314 p.Thr102Ala Polymorphism rs202159001 - BMP4 P12644 VAR_058315 p.Arg162Gln Disease rs770493925 Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] BMP4 P12644 VAR_058316 p.Gly168Ala Polymorphism - - BMP4 P12644 VAR_058317 p.Arg287His Disease rs121912768 Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] BMP4 P12644 VAR_058318 p.Ala346Val Disease rs121912766 Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] BMP5 P22003 VAR_047054 p.His2Tyr Polymorphism rs9475437 - BMP5 P22003 VAR_061896 p.Asn121Ser Polymorphism rs35124644 - BMP6 P22004 VAR_036200 p.Ala343Asp Unclassified - A colorectal cancer sample BMP6 P22004 VAR_036201 p.Pro476Leu Unclassified rs909733732 A colorectal cancer sample BMP6 P22004 VAR_047055 p.Arg257Cys Polymorphism rs10458105 - BMP7 P18075 VAR_064058 p.Leu198Pro Polymorphism rs376798352 - BMP7 P18075 VAR_064059 p.Asn321Ser Polymorphism rs61733438 - BMP8A Q7Z5Y6 VAR_052571 p.Arg293His Polymorphism rs6525 - BMP8A Q7Z5Y6 VAR_059859 p.Met84Val Polymorphism rs4660269 - BMP8B P34820 VAR_014474 p.His293Arg Polymorphism rs6525 - BMPER Q8N8U9 VAR_028166 p.Arg555Trp Polymorphism rs10249320 - BMPER Q8N8U9 VAR_065823 p.Pro370Leu Disease rs387906993 Diaphanospondylodysostosis (DSD) [MIM:608022] BMPR1A P36894 VAR_015533 p.Cys124Arg Disease rs199476087 Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_015534 p.Ala338Asp Disease rs199476086 Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_015535 p.Cys376Tyr Disease rs199476088 Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022828 p.Tyr62Asp Disease - Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022829 p.Cys82Tyr Disease - Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022830 p.Cys130Arg Disease rs1131691168Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022831 p.Arg443Cys Disease rs35619497 Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_022832 p.Met470Thr Disease rs199476089 Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A P36894 VAR_041397 p.Pro2Thr Polymorphism rs11528010 - BMPR1A P36894 VAR_041398 p.Phe58Tyr Unclassified - A renal clear cell carcinoma sample BMPR1A P36894 VAR_041399 p.Val450Met Polymorphism rs55932635 - BMPR1A P36894 VAR_041400 p.Arg486Gln Unclassified rs752802257 A gastric adenocarcinoma sample BMPR1A P36894 VAR_077353 p.Met460Thr Unclassified rs758309022 - BMPR1B O00238 VAR_023819 p.Ile200Lys Disease rs121434417 Brachydactyly A2 (BDA2) [MIM:112600] BMPR1B O00238 VAR_023820 p.Arg486Trp Disease rs121434418 Brachydactyly A2 (BDA2) [MIM:112600] BMPR1B O00238 VAR_037967 p.Arg486Gln Disease rs121434419 Brachydactyly A2 (BDA2) [MIM:112600] BMPR1B O00238 VAR_041401 p.Arg31His Unclassified rs200035802 A gastric adenocarcinoma sample BMPR1B O00238 VAR_041402 p.Arg149Trp Polymorphism rs34231464 - BMPR1B O00238 VAR_041403 p.Arg224His Polymorphism rs35973133 - BMPR1B O00238 VAR_041404 p.Asp297Asn Unclassified - A metastatic melanoma sample BMPR1B O00238 VAR_041405 p.Arg371Gln Polymorphism rs34970181 - BMPR1B O00238 VAR_075520 p.Arg31Cys Unclassified rs745854387 Acromesomelic dysplasia, Demirhan type (AMDD) [MIM:609441] BMPR1B O00238 VAR_075521 p.Cys53Arg Disease rs863225041 Acromesomelic dysplasia, Demirhan type (AMDD) [MIM:609441] BMPR1B O00238 VAR_076406 p.Lys325Asn Disease rs869025614 Brachydactyly A1, D (BDA1D) [MIM:616849] BMPR2 Q13873 VAR_013670 p.Cys60Tyr Disease rs1085307172Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013671 p.Cys117Tyr Disease rs1085307215Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013672 p.Cys118Trp Disease rs137852743 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013673 p.Cys123Arg Disease rs137852750 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013674 p.Cys123Ser Disease rs137852750 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013675 p.Glu224Asp Polymorphism rs754343081 - BMPR2 Q13873 VAR_013676 p.Cys347Tyr Disease rs137852744 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013677 p.Cys420Arg Disease rs1085307324Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013678 p.Cys483Arg Disease rs1085307354Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013679 p.Asp485Gly Disease rs137852745 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013680 p.Arg491Gln Disease rs137852749 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013681 p.Arg491Trp Disease rs137852746 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013682 p.Lys512Thr Disease rs1085307364Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_013683 p.Asn519Lys Disease rs1085307365Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_019996 p.Ser775Asn Polymorphism rs2228545 - BMPR2 Q13873 VAR_033109 p.Gln82His Disease rs1085307185Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_033110 p.Gly182Asp Disease rs137852754 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_033111 p.Arg899Pro Disease rs137852752 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_073041 p.Tyr67Cys Disease rs1085307177Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_073042 p.Ser863Asn Disease rs1006246556Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079588 p.Ser64Arg Unclassified - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079589 p.Ile77Leu Unclassified - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079590 p.Cys84Phe Disease rs1085307197Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079591 p.His87Tyr Unclassified - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079592 p.Gln92Leu Unclassified - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079593 p.Gln109His Unclassified - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079594 p.Pro138Ala Unclassified - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079595 p.Ala162Pro Unclassified - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079597 p.Arg248Gly Unclassified - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079598 p.Asp264Asn Unclassified - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079600 p.Val341Met Unclassified rs767882551 Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2 Q13873 VAR_079601 p.Lys467Arg Unclassified - Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMS1 Q14692 VAR_057503 p.Arg237His Polymorphism rs2272881 - BMS1 Q14692 VAR_057504 p.Ser552Pro Polymorphism rs3814621 - BMS1 Q14692 VAR_057505 p.Lys652Arg Polymorphism rs787795 - BMS1 Q14692 VAR_057506 p.Met884Val Polymorphism rs2419109 - BMS1 Q14692 VAR_057507 p.Val1141Ile Polymorphism rs12764004 - BMS1 Q14692 VAR_072539 p.Arg930His Disease rs587777706 Aplasia cutis congenita, non-syndromic (ACC) [MIM:107600] BMX P51813 VAR_041674 p.Ser284Leu Polymorphism rs35353387 - BMX P51813 VAR_041675 p.Arg670Trp Unclassified rs1029888196A lung large cell carcinoma sample BNC2 Q6ZN30 VAR_033543 p.Thr782Ala Polymorphism rs3739714 - BNC2 Q6ZN30 VAR_052707 p.Leu550Val Polymorphism rs4961490 - BNIP1 Q12981 VAR_019169 p.Gln14His Polymorphism rs5745100 - BNIP2 Q12982 VAR_018837 p.Ser24Thr Polymorphism rs6151509 - BNIPL Q7Z465 VAR_051917 p.Ser65Asn Polymorphism rs12068365 - BNIPL Q7Z465 VAR_051918 p.Ser226Asn Polymorphism rs12068365 - BOC Q9BWV1 VAR_033600 p.Lys883Asn Polymorphism rs35536878 - BOC Q9BWV1 VAR_033601 p.Gln915His Polymorphism rs3814405 - BOC Q9BWV1 VAR_035503 p.Val713Met Unclassified rs367589886 A breast cancer sample BOD1L1 Q8NFC6 VAR_035220 p.Thr429Met Polymorphism rs2035820 - BOD1L1 Q8NFC6 VAR_035221 p.Leu650Ile Polymorphism rs1971278 - BOD1L1 Q8NFC6 VAR_035222 p.Ala1369Gly Polymorphism rs17745712 - BOD1L1 Q8NFC6 VAR_035223 p.Thr1448Ala Polymorphism rs17745676 - BOD1L1 Q8NFC6 VAR_035224 p.Thr1515Ala Polymorphism rs16888885 - BOD1L1 Q8NFC6 VAR_035225 p.Val1645Ile Polymorphism rs17807493 - BOD1L1 Q8NFC6 VAR_035226 p.Gly2361Ser Polymorphism rs3822227 - BOD1L1 Q8NFC6 VAR_035227 p.Pro2396Leu Polymorphism rs3733557 - BOD1L1 Q8NFC6 VAR_036124 p.Ser246Ile Unclassified - A breast cancer sample BOD1L1 Q8NFC6 VAR_061166 p.Val2944Met Polymorphism rs28538279 - BOLA1 Q9Y3E2 VAR_033630 p.Gly98Ala Polymorphism rs1044808 - BOLA3 Q53S33 VAR_076180 p.His96Arg Disease rs148674363 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2) [MIM:614299] BOLA3 Q53S33 VAR_077911 p.Ile67Asn Disease rs550855238 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2) [MIM:614299] BORA Q6PGQ7 VAR_030110 p.Ser210Leu Polymorphism rs9543107 - BORA Q6PGQ7 VAR_030111 p.Ser308Phe Polymorphism rs1146858 - BORCS5 Q969J3 VAR_038840 p.Ser41Cys Polymorphism rs3741795 - BORCS5 Q969J3 VAR_038841 p.Asp191Asn Polymorphism rs3751262 - BPGM P07738 VAR_065367 p.Arg62Gln Disease rs751972865 Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800] BPGM P07738 VAR_065368 p.Arg90Cys Disease rs121964925 Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800] BPIFA2 Q96DR5 VAR_049751 p.Gly43Arg Polymorphism rs6059139 - BPIFA2 Q96DR5 VAR_049752 p.Lys113Glu Polymorphism rs17304572 - BPIFA2 Q96DR5 VAR_049753 p.Arg221Cys Polymorphism rs6120140 - BPIFA3 Q9BQP9 VAR_049754 p.Ala41Glu Polymorphism rs17124391 - BPIFA3 Q9BQP9 VAR_049755 p.Val136Ile Polymorphism rs3818222 - BPIFB1 Q8TDL5 VAR_016756 p.Ile84Val Polymorphism rs1078761 - BPIFB1 Q8TDL5 VAR_016757 p.Ser479Thr Polymorphism rs1999663 - BPIFB1 Q8TDL5 VAR_023361 p.Ser298Pro Polymorphism rs6120221 - BPIFB1 Q8TDL5 VAR_023362 p.Ser313Ile Polymorphism rs6120222 - BPIFB1 Q8TDL5 VAR_049747 p.Thr140Ala Polymorphism rs34578060 - BPIFB1 Q8TDL5 VAR_049748 p.Val284Met Polymorphism rs6141383 - BPIFB1 Q8TDL5 VAR_049749 p.Asp287His Polymorphism rs34548457 - BPIFB1 Q8TDL5 VAR_049750 p.Thr464Ser Polymorphism rs17856249 - BPIFB2 Q8N4F0 VAR_024515 p.Lys31Met Polymorphism rs6088066 - BPIFB2 Q8N4F0 VAR_036550 p.Ala20Val Unclassified - A colorectal cancer sample BPIFB2 Q8N4F0 VAR_049740 p.Ala63Val Polymorphism rs34128772 - BPIFB3 P59826 VAR_049742 p.Val228Met Polymorphism rs4911290 - BPIFB3 P59826 VAR_049743 p.Thr290Met Polymorphism rs2093066 - BPIFB3 P59826 VAR_049744 p.His334Gln Polymorphism rs6057717 - BPIFB3 P59826 VAR_049745 p.Tyr369Cys Polymorphism rs6059063 - BPIFB3 P59826 VAR_049746 p.Pro449Ser Polymorphism rs378098 - BPIFB4 P59827 VAR_055998 p.Asp199Gly Polymorphism rs4339026 - BPIFB4 P59827 VAR_055999 p.Gly206Trp Polymorphism rs2424943 - BPIFB4 P59827 VAR_056000 p.Ile268Val Polymorphism rs2070325 - BPIFB4 P59827 VAR_056001 p.Asn320Thr Polymorphism rs2889732 - BPIFB4 P59827 VAR_059372 p.Gly167Trp Polymorphism rs2424943 - BPIFB4 P59827 VAR_059373 p.Ile229Val Polymorphism rs2070325 - BPIFB4 P59827 VAR_069042 p.Phe527Leu Polymorphism rs11699009 - BPIFB4 P59827 VAR_069043 p.Thr533Ile Polymorphism rs11696307 - BPIFB6 Q8NFQ5 VAR_024518 p.Val97Ile Polymorphism rs2070317 - BPIFB6 Q8NFQ5 VAR_033632 p.Thr16Met Polymorphism rs17301126 - BPIFB6 Q8NFQ5 VAR_033633 p.Pro149Thr Polymorphism rs11907355 - BPIFB6 Q8NFQ5 VAR_033634 p.Ser347Gly Polymorphism rs4911287 - BPIFB6 Q8NFQ5 VAR_065088 p.Arg296His Polymorphism rs79809934 - BPIFC Q8NFQ6 VAR_024516 p.Val269Ala Polymorphism rs2076051 - BPIFC Q8NFQ6 VAR_024517 p.Ser451Pro Polymorphism rs5998478 - BPIFC Q8NFQ6 VAR_033631 p.Val302Leu Polymorphism rs5994570 - BPIFC Q8NFQ6 VAR_049741 p.Glu479Ala Polymorphism rs35856742 - BPI P17213 VAR_018401 p.Ala16Val Polymorphism rs1341023 - BPI P17213 VAR_018402 p.Ala196Val Polymorphism rs5743509 - BPI P17213 VAR_018403 p.Glu216Lys Polymorphism rs4358188 - BPI P17213 VAR_049728 p.Ala12Thr Polymorphism rs5743497 - BPI P17213 VAR_049729 p.Ala12Val Polymorphism rs5743498 - BPI P17213 VAR_049730 p.Arg90Cys Polymorphism rs5743500 - BPI P17213 VAR_049732 p.Glu140Gln Polymorphism rs5743506 - BPI P17213 VAR_049733 p.Ala280Val Polymorphism rs5741804 - BPI P17213 VAR_049734 p.Val377Ile Polymorphism rs5743524 - BPI P17213 VAR_049735 p.Asn404Asp Polymorphism rs5741809 - BPI P17213 VAR_049736 p.Lys451Glu Polymorphism rs5743542 - BPTF Q12830 VAR_080531 p.Ala1924Thr Disease - Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) [MIM:617755] BPTF Q12830 VAR_080532 p.Met2996Arg Disease - Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) [MIM:617755] BRAF P15056 VAR_018512 p.Gly466Val Disease rs121913351 Lung cancer (LNCR) [MIM:211980] BRAF P15056 VAR_018513 p.Leu597Arg Disease rs121913366 Lung cancer (LNCR) [MIM:211980] BRAF P15056 VAR_018613 p.Arg462Ile Disease rs180177032 Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_018614 p.Ile463Ser Disease rs180177033 Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_018615 p.Gly464Glu Disease rs121913348 Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_018616 p.Gly464Val Unclassified rs121913348 A colorectal cancer cell line BRAF P15056 VAR_018617 p.Gly466Ala Unclassified rs121913351 Melanoma BRAF P15056 VAR_018618 p.Gly466Glu Unclassified rs121913351 Melanoma BRAF P15056 VAR_018620 p.Gly469Ala Disease rs121913355 Familial non-Hodgkin lymphoma (NHL) [MIM:605027] BRAF P15056 VAR_018621 p.Gly469Glu Disease rs121913355 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_018621 p.Gly469Glu Unclassified rs121913355 Colon cancer BRAF P15056 VAR_018622 p.Gly469Arg Disease rs121913357 Familial non-Hodgkin lymphoma (NHL) [MIM:605027] BRAF P15056 VAR_018623 p.Glu586Lys Unclassified rs121913340 Ovarian cancer BRAF P15056 VAR_018624 p.Asp594Gly Disease rs121913338 Familial non-Hodgkin lymphoma (NHL) [MIM:605027] BRAF P15056 VAR_018625 p.Phe595Leu Disease rs121913341 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_018625 p.Phe595Leu Unclassified rs121913341 Colon cancer BRAF P15056 VAR_018626 p.Gly596Arg Unclassified rs121913361 A colorectal adenocarcinoma sample BRAF P15056 VAR_018627 p.Leu597Val Disease rs121913369 Noonan syndrome 7 (NS7) [MIM:613706] BRAF P15056 VAR_018628 p.Val600Asp Unclassified rs121913377 A melanoma cell line BRAF P15056 VAR_018629 p.Val600Glu Disease rs113488022 Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_018630 p.Lys601Glu Disease rs121913364 Colorectal cancer (CRC) [MIM:114500] BRAF P15056 VAR_026113 p.Ala246Pro Disease rs180177034 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_026114 p.Gln257Arg Disease rs180177035 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_026115 p.Leu485Phe Disease rs180177036 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_026116 p.Lys499Glu Disease rs180177037 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_026117 p.Glu501Gly Disease rs180177039 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_026118 p.Glu501Lys Disease rs180177038 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_026119 p.Asn581Asp Disease rs180177040 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_035096 p.Ser467Ala Disease rs869025606 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_035097 p.Phe468Ser Disease rs397507473 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_035098 p.Gly596Val Disease rs397507483 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_040391 p.Pro301Ser Polymorphism rs34776339 - BRAF P15056 VAR_040392 p.Gly469Val Unclassified rs121913355 A colorectal adenocarcinoma sample BRAF P15056 VAR_040393 p.Asn581Ser Unclassified rs121913370 A colorectal adenocarcinoma sample BRAF P15056 VAR_058620 p.Thr241Met Polymorphism rs387906660 - BRAF P15056 VAR_058621 p.Thr241Pro Disease rs387906661 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058621 p.Thr241Pro Disease rs387906661 LEOPARD syndrome 3 (LPRD3) [MIM:613707] BRAF P15056 VAR_058622 p.Thr241Arg Polymorphism rs387906660 - BRAF P15056 VAR_058623 p.Leu245Phe Disease rs397507466 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058624 p.Glu275Lys Disease - Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058625 p.Lys499Asn Disease rs397507476 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058626 p.Leu525Pro Disease rs869025340 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058627 p.Trp531Cys Disease rs606231228 Noonan syndrome 7 (NS7) [MIM:613706] BRAF P15056 VAR_058628 p.Thr599Arg Disease rs121913375 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058629 p.Lys601Gln Disease rs121913364 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058630 p.Asp638Glu Disease rs180177042 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_058631 p.Gln709Arg Disease rs397507486 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_065171 p.Thr244Pro Disease rs397507465 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_065172 p.Gln262Lys Disease rs397507470 Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF P15056 VAR_065173 p.Asn580Asp Disease - Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAT1 Q6PJG6 VAR_031202 p.Arg20Gly Polymorphism rs17856488 - BRAT1 Q6PJG6 VAR_061594 p.Arg737Trp Polymorphism rs60152725 - BRAT1 Q6PJG6 VAR_081168 p.Leu140Pro Unclassified - Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) [MIM:618056] BRAT1 Q6PJG6 VAR_081168 p.Leu140Pro Unclassified - Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) [MIM:614498] BRAT1 Q6PJG6 VAR_081169 p.Arg609Trp Unclassified - Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) [MIM:618056] BRAT1 Q6PJG6 VAR_081170 p.Ala642Glu Unclassified - Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) [MIM:618056] BRCA1 P38398 VAR_007754 p.Val11Ala Unclassified rs80357017 - BRCA1 P38398 VAR_007755 p.Ile21Val Unclassified rs80357406 - BRCA1 P38398 VAR_007756 p.Leu22Ser Disease rs80357438 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007757 p.Cys61Gly Disease rs28897672 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007757 p.Cys61Gly Disease rs28897672 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_007758 p.Cys64Gly Disease rs80357064 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007759 p.Cys64Tyr Polymorphism rs55851803 - BRCA1 P38398 VAR_007760 p.His239Arg Polymorphism rs80357396 - BRCA1 P38398 VAR_007761 p.Val271Met Disease rs80357244 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007762 p.Gln356Arg Polymorphism rs1799950 - BRCA1 P38398 VAR_007764 p.Ile379Met Polymorphism rs56128296 - BRCA1 P38398 VAR_007765 p.Phe461Leu Disease rs56046357 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007766 p.Tyr465Asp Disease rs397508869 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007767 p.Arg507Ile Unclassified rs80357224 - BRCA1 P38398 VAR_007768 p.Gly552Val Disease rs397508893 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007769 p.Asp693Asn Polymorphism rs4986850 - BRCA1 P38398 VAR_007770 p.Val772Ala Polymorphism rs80357467 - BRCA1 P38398 VAR_007771 p.Lys820Glu Polymorphism rs56082113 - BRCA1 P38398 VAR_007772 p.Thr826Lys Unclassified rs28897683 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007773 p.Arg841Trp Unclassified rs1800709 Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_007774 p.Pro871Leu Polymorphism rs799917 - BRCA1 P38398 VAR_007775 p.Leu892Ser Disease rs397508994 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007776 p.Gly960Asp Disease rs397509022 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007777 p.Met1008Ile Polymorphism rs1800704 - BRCA1 P38398 VAR_007778 p.Thr1025Ile Disease rs397509034 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007779 p.Glu1038Gly Polymorphism rs16941 - BRCA1 P38398 VAR_007780 p.Ser1040Asn Polymorphism rs4986852 - BRCA1 P38398 VAR_007781 p.Val1047Ala Disease rs397509037 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007782 p.Pro1150Ser Disease rs80357272 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007783 p.Lys1183Arg Polymorphism rs16942 - BRCA1 P38398 VAR_007784 p.Glu1219Asp Unclassified rs80356876 - BRCA1 P38398 VAR_007785 p.Arg1347Gly Polymorphism rs28897689 - BRCA1 P38398 VAR_007786 p.Ser1431Pro Polymorphism - - BRCA1 P38398 VAR_007787 p.Arg1443Gly Unclassified rs41293455 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007788 p.Ser1512Ile Polymorphism rs1800744 - BRCA1 P38398 VAR_007789 p.Thr1561Ile Unclassified rs56158747 - BRCA1 P38398 VAR_007790 p.Lys1606Glu Unclassified rs80356943 - BRCA1 P38398 VAR_007791 p.Ser1613Gly Polymorphism rs1799966 - BRCA1 P38398 VAR_007792 p.Met1628Val Unclassified rs80357465 - BRCA1 P38398 VAR_007793 p.Met1628Thr Unclassified rs4986854 Some patients with sporadic breast cancer BRCA1 P38398 VAR_007794 p.Pro1637Leu Polymorphism rs80357048 - BRCA1 P38398 VAR_007795 p.Met1652Ile Polymorphism rs1799967 - BRCA1 P38398 VAR_007796 p.Ala1708Glu Disease rs28897696 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_007797 p.Val1713Gly Polymorphism - - BRCA1 P38398 VAR_007798 p.Pro1749Arg Unclassified rs80357462 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_007799 p.Met1775Arg Disease rs41293463 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_008759 p.Glu227Lys Unclassified - Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_008760 p.Pro346Ser Unclassified rs80357015 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_008761 p.Lys1406Asn Polymorphism rs1800707 - BRCA1 P38398 VAR_008762 p.Ala1641Pro Unclassified rs1800726 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_008763 p.Asp1692Asn Unclassified rs80187739 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_008764 p.Pro1776Ser Unclassified rs1800757 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_008765 p.Pro1812Ser Unclassified rs1800751 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_019944 p.Gly275Ser Polymorphism rs8176153 - BRCA1 P38398 VAR_019945 p.Ser1140Gly Unclassified rs2227945 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_019946 p.Thr1620Ala Polymorphism rs8176219 - BRCA1 P38398 VAR_020110 p.Asn723Asp Polymorphism rs4986845 - BRCA1 P38398 VAR_020111 p.Phe989Ser Polymorphism rs4986848 - BRCA1 P38398 VAR_020112 p.Arg1443Gln Polymorphism rs4986849 - BRCA1 P38398 VAR_020679 p.Glu10Lys Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020679 p.Glu10Lys Disease - Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020680 p.Glu23Lys Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020680 p.Glu23Lys Disease - Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020681 p.Arg71Lys Unclassified rs80356913 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020682 p.Asn656Ile Polymorphism - - BRCA1 P38398 VAR_020683 p.Asp749Tyr Disease rs80357114 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020684 p.His835Tyr Unclassified rs751656678 Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020685 p.Tyr856His Unclassified rs80356892 A patient with sporadic breast cancer BRCA1 P38398 VAR_020686 p.Arg866Gln Unclassified - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020687 p.His888Tyr Unclassified rs80357480 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020688 p.Glu1060Ala Polymorphism rs80357184 - BRCA1 P38398 VAR_020689 p.Ser1139Ile Unclassified rs80357228 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020690 p.Ser1187Ile Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020690 p.Ser1187Ile Disease - Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020691 p.Gln1200His Disease rs56214134 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020691 p.Gln1200His Disease rs56214134 Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020692 p.Arg1204Ile Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020693 p.Lys1207Asn Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020694 p.Glu1210Gly Unclassified rs1060502347Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020695 p.Ser1217Tyr Disease - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020695 p.Ser1217Tyr Disease - Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020696 p.Phe1226Leu Disease - Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020697 p.Arg1243Gly Disease - Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_020698 p.Ser1297Pro Unclassified rs1450793674Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020699 p.Met1411Thr Unclassified rs273900729 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_020699 p.Met1411Thr Unclassified rs273900729 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_020700 p.Val1665Met Polymorphism rs80357169 - BRCA1 P38398 VAR_020701 p.Lys1690Gln Unclassified rs397507239 Some patients with sporadic breast cancer BRCA1 P38398 VAR_020702 p.Cys1697Arg Disease rs80356993 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_020704 p.Leu1786Pro Unclassified rs398122697 Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_021913 p.Ile925Leu Polymorphism rs4986847 - BRCA1 P38398 VAR_035947 p.Leu30Phe Unclassified - A breast cancer sample BRCA1 P38398 VAR_035948 p.Leu758Phe Unclassified - A breast cancer sample BRCA1 P38398 VAR_035949 p.Gly778Cys Unclassified - A breast cancer sample BRCA1 P38398 VAR_052077 p.Ser153Arg Polymorphism rs28897674 - BRCA1 P38398 VAR_052078 p.Asn1236Lys Unclassified rs28897687 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_052079 p.Glu1250Lys Polymorphism rs28897686 - BRCA1 P38398 VAR_052080 p.Phe1662Cys Polymorphism rs28897695 - BRCA1 P38398 VAR_063212 p.Met1775Lys Disease rs41293463 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063899 p.Met18Thr Unclassified rs80356929 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063900 p.Arg1495Met Unclassified rs80357389 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063901 p.Ala1623Gly Polymorphism rs80356862 - BRCA1 P38398 VAR_063902 p.Thr1685Ala Unclassified rs80356890 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063903 p.Thr1685Ile Polymorphism rs80357043 - BRCA1 P38398 VAR_063904 p.Met1689Arg Unclassified rs80357061 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063905 p.Gly1706Glu Unclassified rs80356860 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063906 p.Ser1715Arg Unclassified rs80357094 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063907 p.Gly1738Arg Unclassified rs80356937 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063908 p.Leu1764Pro Unclassified rs80357281 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063909 p.Ile1766Ser Unclassified rs80357463 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_063910 p.Gly1788Val Unclassified rs80357069 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070458 p.Ser4Phe Unclassified rs786203152 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070459 p.Lys45Gln Unclassified rs769650474 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070460 p.Asp67Tyr Unclassified rs80357102 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070461 p.Tyr105Cys Polymorphism rs28897673 - BRCA1 P38398 VAR_070462 p.Asn132Lys Unclassified rs80357413 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070463 p.Pro142His Unclassified rs55971303 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070464 p.Leu147Phe Unclassified rs748876625 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070465 p.Leu165Pro Unclassified - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070466 p.Arg170Trp Unclassified rs80357325 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070467 p.Ser186Tyr Unclassified rs55688530 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070468 p.Val191Ile Unclassified rs80357090 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070469 p.Thr231Met Unclassified rs80357001 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070470 p.Asp245Val Unclassified rs80356865 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070471 p.Leu246Val Unclassified rs28897675 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070472 p.Val271Leu Unclassified rs80357244 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070473 p.Leu668Phe Unclassified rs80357250 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070474 p.Asp695Asn Unclassified rs28897681 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070475 p.Pro798Leu Unclassified rs876660005 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070476 p.Asn810Tyr Unclassified rs28897682 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070477 p.Arg841Gln Unclassified rs80357337 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070478 p.Arg866Cys Polymorphism rs41286300 - BRCA1 P38398 VAR_070479 p.Ser1101Asn Unclassified rs41293447 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070480 p.Ser1140Asn Unclassified - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070481 p.Glu1214Lys Unclassified rs80356923 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070482 p.Leu1267Ser Unclassified rs587782190 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070483 p.Glu1282Val Unclassified rs80357217 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070485 p.Ser1301Arg Unclassified rs273900719 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070486 p.Glu1346Lys Unclassified rs80357407 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070487 p.Val1378Ile Unclassified rs28897690 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070488 p.Met1400Val Unclassified rs80357306 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070489 p.Leu1407Pro Unclassified rs80357492 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070490 p.Ser1448Gly Unclassified rs80357486 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070491 p.Ser1486Cys Unclassified rs397507232 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070492 p.Val1534Met Unclassified rs55815649 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070493 p.Arg1589Pro Unclassified - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070494 p.Ser1651Phe Unclassified rs80356938 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070495 p.Ser1651Pro Unclassified rs879254042 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070496 p.Ser1655Phe Unclassified rs80357390 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070497 p.His1686Gln Unclassified rs397509218 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070498 p.His1686Arg Unclassified rs730882166 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070500 p.Thr1691Ile Unclassified rs80357034 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070501 p.Arg1699Gln Unclassified rs41293459 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070502 p.Gly1706Ala Unclassified rs80356860 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070503 p.Trp1718Cys Unclassified rs80357239 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070504 p.Thr1720Ala Unclassified rs56195342 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070505 p.Glu1735Lys Unclassified rs397509238 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070506 p.Val1736Ala Unclassified rs45553935 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070506 p.Val1736Ala Unclassified rs45553935 Fanconi anemia, complementation group S (FANCS) [MIM:617883] BRCA1 P38398 VAR_070507 p.Asp1739Gly Unclassified rs80357227 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070508 p.Asp1739Val Unclassified rs80357227 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070509 p.His1746Gln Unclassified rs786202389 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070510 p.Arg1753Thr Unclassified rs397509246 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070511 p.Cys1767Ser Unclassified - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070512 p.Gly1770Val Unclassified rs863224765 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070513 p.Trp1782Cys Unclassified - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070514 p.Ala1789Thr Unclassified rs80357078 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070515 p.Glu1794Asp Unclassified rs397509275 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070516 p.Val1804Asp Unclassified rs80356920 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070517 p.Pro1812Arg Unclassified - Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070518 p.Trp1837Arg Unclassified rs80356959 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_070519 p.His1862Leu Unclassified rs80357183 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_075666 p.Arg1699Trp Disease rs55770810 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_075666 p.Arg1699Trp Disease rs55770810 Fanconi anemia, complementation group S (FANCS) [MIM:617883] BRCA1 P38398 VAR_075666 p.Arg1699Trp Disease rs55770810 Ovarian cancer (OC) [MIM:167000] BRCA1 P38398 VAR_079607 p.Leu1780Pro Unclassified rs80357474 Breast cancer (BC) [MIM:114480] BRCA1 P38398 VAR_079607 p.Leu1780Pro Unclassified rs80357474 Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1 P38398 VAR_079607 p.Leu1780Pro Unclassified rs80357474 Ovarian cancer (OC) [MIM:167000] BRCA2 P51587 VAR_005085 p.Phe32Leu Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005086 p.Lys53Arg Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005087 p.Ala75Pro Unclassified rs28897701 Ovarian cancer BRCA2 P51587 VAR_005087 p.Ala75Pro Unclassified rs28897701 Renal cancer BRCA2 P51587 VAR_005088 p.Phe81Leu Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005089 p.Pro201Arg Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005090 p.Val211Ala Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005091 p.Pro222Ser Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005092 p.Asn289His Polymorphism rs766173 - BRCA2 P51587 VAR_005093 p.Val355Leu Unclassified - Lung cancer BRCA2 P51587 VAR_005094 p.Asn372His Polymorphism rs144848 - BRCA2 P51587 VAR_005095 p.Cys554Trp Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005095 p.Cys554Trp Unclassified - Pancreas cancer BRCA2 P51587 VAR_005096 p.Thr630Ile Unclassified - Ovarian cancer BRCA2 P51587 VAR_005097 p.Asp728Ala Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005098 p.Asn991Asp Polymorphism rs1799944 - BRCA2 P51587 VAR_005099 p.Asn1147Ser Polymorphism rs1799951 - BRCA2 P51587 VAR_005101 p.Gly1529Arg Unclassified rs28897728 Bladder cancer BRCA2 P51587 VAR_005102 p.Asn1880Lys Polymorphism rs11571657 - BRCA2 P51587 VAR_005103 p.Thr1915Met Polymorphism rs4987117 - BRCA2 P51587 VAR_005104 p.Arg2034Cys Polymorphism rs1799954 - BRCA2 P51587 VAR_005105 p.Gly2274Val Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005106 p.His2415Asn Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005107 p.Gln2421His Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005108 p.Asp3095Glu Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005109 p.Ile3103Met Unclassified - Melanoma BRCA2 P51587 VAR_005110 p.Met3118Thr Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005111 p.Thr3357Arg Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_005112 p.Ile3412Val Polymorphism rs1801426 - BRCA2 P51587 VAR_008766 p.Asn108His Polymorphism - - BRCA2 P51587 VAR_008767 p.Lys327Glu Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008768 p.Thr582Pro Polymorphism rs80358457 - BRCA2 P51587 VAR_008769 p.Asp707Tyr Polymorphism rs80358487 - BRCA2 P51587 VAR_008770 p.Met784Val Polymorphism rs11571653 - BRCA2 P51587 VAR_008771 p.Asn886Ile Polymorphism - - BRCA2 P51587 VAR_008772 p.Asp935Asn Unclassified rs28897716 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008774 p.Cys1290Tyr Polymorphism rs41293485 - BRCA2 P51587 VAR_008775 p.Thr1414Met Polymorphism rs70953664 - BRCA2 P51587 VAR_008776 p.Asp1420Tyr Polymorphism rs28897727 - BRCA2 P51587 VAR_008777 p.Asp1513Asn Polymorphism - - BRCA2 P51587 VAR_008778 p.Glu1593Asp Polymorphism - - BRCA2 P51587 VAR_008779 p.Gly1771Asp Unclassified rs80358755 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008780 p.Asn1805Ser Polymorphism rs80358765 - BRCA2 P51587 VAR_008781 p.Asp1902Asn Polymorphism rs4987048 - BRCA2 P51587 VAR_008782 p.His2074Asn Polymorphism rs34309943 - BRCA2 P51587 VAR_008783 p.Glu2089Asp Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008784 p.Val2138Phe Polymorphism rs11571659 - BRCA2 P51587 VAR_008785 p.Ala2466Val Polymorphism - - BRCA2 P51587 VAR_008786 p.Leu2480Val Polymorphism rs80358965 - BRCA2 P51587 VAR_008787 p.Ile2490Thr Polymorphism rs11571707 - BRCA2 P51587 VAR_008788 p.Arg2502His Unclassified - Ovarian cancer BRCA2 P51587 VAR_008789 p.Thr2515Ile Unclassified rs28897744 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008790 p.Arg2787His Unclassified - Ovarian cancer BRCA2 P51587 VAR_008791 p.Ile2944Phe Polymorphism rs4987047 - BRCA2 P51587 VAR_008792 p.Ala2951Thr Polymorphism rs11571769 - BRCA2 P51587 VAR_008793 p.Val2969Met Polymorphism rs59004709 - BRCA2 P51587 VAR_008794 p.Tyr3098His Unclassified rs41293521 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_008794 p.Tyr3098His Unclassified rs41293521 Ovarian cancer BRCA2 P51587 VAR_008795 p.Lys3257Arg Polymorphism - - BRCA2 P51587 VAR_008796 p.Arg3276Ser Polymorphism - - BRCA2 P51587 VAR_018661 p.Thr2722Arg Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_018908 p.Lys322Gln Polymorphism rs11571640 - BRCA2 P51587 VAR_018909 p.Leu929Ser Polymorphism rs2227943 - BRCA2 P51587 VAR_018910 p.Ser976Phe Polymorphism rs11571656 - BRCA2 P51587 VAR_018911 p.Asn987Ile Polymorphism rs2227944 - BRCA2 P51587 VAR_018912 p.His1561Asn Polymorphism rs2219594 - BRCA2 P51587 VAR_018913 p.Lys2162Arg Polymorphism rs11571660 - BRCA2 P51587 VAR_018914 p.His2440Arg Polymorphism rs4986860 - BRCA2 P51587 VAR_018915 p.Ser2835Pro Polymorphism rs11571746 - BRCA2 P51587 VAR_018916 p.Glu2856Ala Polymorphism rs11571747 - BRCA2 P51587 VAR_018917 p.Val3244Ile Polymorphism rs11571831 - BRCA2 P51587 VAR_020705 p.Tyr42Cys Unclassified rs4987046 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020705 p.Tyr42Cys Unclassified rs4987046 Ovarian cancer BRCA2 P51587 VAR_020706 p.Asn60Ser Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020707 p.Gly405Arg Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020708 p.Thr431Ile Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020709 p.Arg448His Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020710 p.Glu462Gly Unclassified rs56403624 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020711 p.Thr598Ala Polymorphism rs28897710 - BRCA2 P51587 VAR_020712 p.Leu613Arg Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020713 p.Glu1036Lys Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020714 p.Ser1106Arg Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020715 p.Ser1179Asn Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020716 p.Asn1279Ser Polymorphism - - BRCA2 P51587 VAR_020717 p.Lys1445Thr Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020718 p.Phe1524Val Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020719 p.Cys1580Tyr Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020720 p.Thr1679Ile Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020721 p.Val1804Ala Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020722 p.Glu1901Lys Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020723 p.Ile1929Val Unclassified rs79538375 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020724 p.Thr2031Ala Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020725 p.Ser2072Cys Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020726 p.Tyr2094Cys Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020727 p.Pro2096Leu Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020728 p.Val2118Leu Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020729 p.Lys2128Asn Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020730 p.Glu2275Gly Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020731 p.Phe2293Leu Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020732 p.Gly2353Arg Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020733 p.Arg2488Lys Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020734 p.Asn2706Ser Polymorphism - - BRCA2 P51587 VAR_020735 p.Asp2723His Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020736 p.Val2728Ile Disease rs28897749 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020737 p.Lys2729Asn Unclassified rs80359065 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020738 p.Gly2793Arg Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020739 p.Lys2950Asn Unclassified rs28897754 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020740 p.Thr3013Ile Unclassified rs28897755 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020741 p.Pro3063Ser Unclassified - A patient with ovarian cancer BRCA2 P51587 VAR_020742 p.Gly3076Glu Polymorphism - - BRCA2 P51587 VAR_020743 p.Asn3124Ile Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020744 p.Lys3196Glu Disease rs80359228 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_020745 p.Thr3374Ile Polymorphism rs56309455 - BRCA2 P51587 VAR_028167 p.Gly25Arg Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_028168 p.Trp31Cys Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_028169 p.Trp31Arg Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032712 p.Thr64Ile Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032713 p.Arg118His Unclassified - One patient with esophageal carcinoma BRCA2 P51587 VAR_032714 p.Met192Thr Unclassified - One patient with pancreatic cancer BRCA2 P51587 VAR_032715 p.Thr225Ala Unclassified - - BRCA2 P51587 VAR_032716 p.Cys315Ser Unclassified rs79483201 One patient with esophageal carcinoma BRCA2 P51587 VAR_032717 p.Ser326Arg Disease rs28897706 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032718 p.Ile505Thr Disease rs28897708 Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032719 p.Ile729Met Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032720 p.Ser1172Leu Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032721 p.Leu1522Phe Unclassified - - BRCA2 P51587 VAR_032722 p.Lys1690Asn Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032723 p.Asn1730Tyr Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032724 p.Thr1887Met Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032725 p.Val1988Ile Unclassified - One patient with esophageal carcinoma BRCA2 P51587 VAR_032726 p.Gly2044Val Polymorphism rs56191579 - BRCA2 P51587 VAR_032727 p.Arg2108Cys Polymorphism rs55794205 - BRCA2 P51587 VAR_032728 p.Asn2135His Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032729 p.Tyr2222Cys Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032730 p.Arg2336His Disease rs28897743 Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] BRCA2 P51587 VAR_032731 p.Gln2456Glu Disease - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_032732 p.Leu2510Pro Disease - Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] BRCA2 P51587 VAR_032733 p.Trp2626Cys Disease - Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] BRCA2 P51587 VAR_032734 p.Arg2842Cys Unclassified - One patient with esophageal carcinoma BRCA2 P51587 VAR_032735 p.Pro3300Ser Unclassified - One patient with esophageal carcinoma BRCA2 P51587 VAR_035436 p.Ser599Phe Polymorphism rs1046984 - BRCA2 P51587 VAR_056751 p.Lys513Arg Polymorphism rs28897709 - BRCA2 P51587 VAR_056752 p.Ile982Leu Polymorphism rs28897717 - BRCA2 P51587 VAR_056753 p.Val1542Met Polymorphism rs28897729 - BRCA2 P51587 VAR_056754 p.Val1643Ala Polymorphism rs28897731 - BRCA2 P51587 VAR_056755 p.Ser1979Arg Polymorphism rs28897737 - BRCA2 P51587 VAR_056756 p.Asp2238Glu Polymorphism rs28897742 - BRCA2 P51587 VAR_056757 p.Arg2336Gln Polymorphism rs28897743 - BRCA2 P51587 VAR_056758 p.Asn2447Asp Polymorphism rs4986859 - BRCA2 P51587 VAR_056759 p.Leu2686Pro Polymorphism rs28897746 - BRCA2 P51587 VAR_056760 p.Leu2792Pro Polymorphism rs28897751 - BRCA2 P51587 VAR_056761 p.Leu3101Arg Polymorphism rs28897758 - BRCA2 P51587 VAR_061563 p.His2116Arg Polymorphism rs55953736 - BRCA2 P51587 VAR_063911 p.Arg2502Cys Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_063912 p.Ile2627Phe Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_063913 p.Leu2653Pro Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_063914 p.Arg2659Lys Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_063915 p.Glu2663Val Unclassified - - BRCA2 P51587 VAR_063916 p.Asp2723Gly Unclassified - - BRCA2 P51587 VAR_063917 p.Gly2748Asp Unclassified - Breast cancer (BC) [MIM:114480] BRCA2 P51587 VAR_063918 p.Arg3052Trp Unclassified - - BRCA2 P51587 VAR_076440 p.Pro606Leu Polymorphism - - BRCC3 P46736 VAR_050097 p.Ile74Val Polymorphism rs28997578 - BRD1 O95696 VAR_048424 p.Arg38Gly Polymorphism rs11549978 - BRD1 O95696 VAR_048425 p.Ala321Ser Polymorphism rs12157714 - BRD1 O95696 VAR_048426 p.Ala730Thr Polymorphism rs35331092 - BRD1 O95696 VAR_079184 p.Val230Leu Polymorphism - - BRD2 P25440 VAR_022132 p.Leu238Phe Polymorphism rs176250 - BRD2 P25440 VAR_029300 p.Ala474Val Polymorphism rs3918143 - BRD2 P25440 VAR_029301 p.Arg547Lys Polymorphism rs1049369 - BRD2 P25440 VAR_041904 p.Gly30Glu Unclassified - A glioblastoma multiforme sample BRD2 P25440 VAR_041905 p.Ala49Gly Polymorphism rs3918144 - BRD2 P25440 VAR_041906 p.Ala49Ser Polymorphism rs55669504 - BRD2 P25440 VAR_041907 p.Ala212Pro Polymorphism rs35952031 - BRD2 P25440 VAR_041908 p.Pro260Gln Polymorphism rs35294809 - BRD2 P25440 VAR_041909 p.Arg558Gly Unclassified - A gastric adenocarcinoma sample BRD2 P25440 VAR_041910 p.Ala569Thr Polymorphism rs34530779 - BRD2 P25440 VAR_041911 p.Ala599Pro Polymorphism rs55952113 - BRD2 P25440 VAR_041912 p.Pro714Leu Unclassified - A glioblastoma multiforme sample BRD3 Q15059 VAR_041913 p.Thr36Asn Unclassified - A renal clear cell carcinoma sample BRD3 Q15059 VAR_041914 p.Ala161Thr Unclassified - A gastric adenocarcinoma sample BRD3 Q15059 VAR_041915 p.Ala172Val Polymorphism rs34609592 - BRD3 Q15059 VAR_041916 p.Lys435Gln Polymorphism rs36093130 - BRD3 Q15059 VAR_041917 p.Arg441His Polymorphism rs56017928 - BRD3 Q15059 VAR_041918 p.Ser447Pro Polymorphism rs55754444 - BRD4 O60885 VAR_041919 p.Pro37Ser Polymorphism rs35177876 - BRD4 O60885 VAR_041920 p.Ala371Gly Polymorphism rs55805532 - BRD4 O60885 VAR_041921 p.Ser563Asn Polymorphism rs55970906 - BRD4 O60885 VAR_041922 p.Thr598Ser Polymorphism rs34362023 - BRD4 O60885 VAR_041923 p.Arg669His Polymorphism rs35824241 - BRD4 O60885 VAR_048427 p.Arg1097His Polymorphism rs35676845 - BRD8 Q9H0E9 VAR_030695 p.Thr490Met Polymorphism rs11750814 - BRD8 Q9H0E9 VAR_048428 p.Leu896Pro Polymorphism rs6883021 - BRD8 Q9H0E9 VAR_048429 p.Gln1198Arg Polymorphism rs412051 - BRD9 Q9H8M2 VAR_033635 p.Ala266Thr Polymorphism rs34292369 - BRD9 Q9H8M2 VAR_033636 p.Ala389Thr Polymorphism rs414349 - BRD9 Q9H8M2 VAR_059143 p.Ala170Thr Polymorphism rs34292369 - BRDT Q58F21 VAR_026584 p.Gln62Lys Polymorphism rs10783071 - BRDT Q58F21 VAR_026585 p.Lys238Asn Polymorphism rs1156281 - BRDT Q58F21 VAR_026586 p.Asn410Lys Polymorphism rs3088232 - BRDT Q58F21 VAR_041924 p.Ser2Phe Polymorphism rs55806733 - BRDT Q58F21 VAR_041925 p.Arg6Gln Polymorphism rs56273490 - BRDT Q58F21 VAR_041926 p.Ala89Val Unclassified rs781375003 A gastric adenocarcinoma sample BRDT Q58F21 VAR_041927 p.His288Tyr Unclassified - A lung neuroendocrine carcinoma sample BRDT Q58F21 VAR_041928 p.Glu357Lys Polymorphism rs34674879 - BRDT Q58F21 VAR_041929 p.Pro542Ala Polymorphism rs55912588 - BRDT Q58F21 VAR_047327 p.Lys336Thr Polymorphism rs1064567 - BRDT Q58F21 VAR_047328 p.Arg605Gln Polymorphism rs35327986 - BRDT Q58F21 VAR_047329 p.Pro696Leu Polymorphism rs10747493 - BRDT Q58F21 VAR_079306 p.Gly928Asp Unclassified rs754258809 Spermatogenic failure 21 (SPGF21) [MIM:617644] BRF1 Q92994 VAR_035723 p.Val542Met Unclassified rs371981699 A colorectal cancer sample BRF1 Q92994 VAR_072710 p.Arg223Trp Disease rs370270828 Cerebellofaciodental syndrome (CFDS) [MIM:616202] BRF1 Q92994 VAR_072711 p.Ser226Leu Disease rs606231416 Cerebellofaciodental syndrome (CFDS) [MIM:616202] BRF1 Q92994 VAR_072712 p.Thr259Met Disease rs373957300 Cerebellofaciodental syndrome (CFDS) [MIM:616202] BRF1 Q92994 VAR_072713 p.Pro292His Disease rs606231450 Cerebellofaciodental syndrome (CFDS) [MIM:616202] BRI3 O95415 VAR_033516 p.Thr123Ala Polymorphism rs12865 - BRICD5 Q6PL45 VAR_031629 p.Val46Ile Polymorphism rs26857 - BRICD5 Q6PL45 VAR_061620 p.Ser31Gly Polymorphism rs26856 - BRICD5 Q6PL45 VAR_061621 p.His122Tyr Polymorphism rs58292351 - BRINP1 O60477 VAR_024930 p.Ala437Thr Polymorphism rs1043377 - BRINP1 O60477 VAR_029989 p.Ser347Arg Polymorphism - - BRINP1 O60477 VAR_029990 p.Arg358His Polymorphism rs17476783 - BRINP1 O60477 VAR_036336 p.Pro712Thr Unclassified - A colorectal cancer sample BRINP2 Q9C0B6 VAR_049022 p.Tyr71Cys Polymorphism rs16850984 - BRINP2 Q9C0B6 VAR_049023 p.Leu390Val Polymorphism rs3176443 - BRIP1 Q9BX63 VAR_020896 p.Pro47Ala Disease rs28903098 Breast cancer (BC) [MIM:114480] BRIP1 Q9BX63 VAR_020897 p.Arg173Cys Polymorphism rs4988345 - BRIP1 Q9BX63 VAR_020898 p.Val193Ile Polymorphism rs4988346 - BRIP1 Q9BX63 VAR_020899 p.Leu195Pro Polymorphism rs4988347 - BRIP1 Q9BX63 VAR_020900 p.Met299Ile Disease rs137852985 Breast cancer (BC) [MIM:114480] BRIP1 Q9BX63 VAR_020901 p.Arg419Trp Polymorphism rs150624408 - BRIP1 Q9BX63 VAR_020902 p.Phe531Val Polymorphism rs4988350 - BRIP1 Q9BX63 VAR_020903 p.Gln540Leu Polymorphism rs4988349 - BRIP1 Q9BX63 VAR_020904 p.Cys832Tyr Polymorphism rs4988355 - BRIP1 Q9BX63 VAR_020905 p.Ser919Pro Polymorphism rs4986764 - BRIP1 Q9BX63 VAR_020906 p.Val935Gly Polymorphism rs4988356 - BRIP1 Q9BX63 VAR_020907 p.Pro1034Leu Unclassified rs1199923024A patient with ovarian cancer BRIP1 Q9BX63 VAR_023700 p.Gln255His Disease - Fanconi anemia complementation group J (FANCJ) [MIM:609054] BRIP1 Q9BX63 VAR_023701 p.Arg264Trp Polymorphism rs28997569 - BRIP1 Q9BX63 VAR_023702 p.Ala349Pro Disease rs149364097 Fanconi anemia complementation group J (FANCJ) [MIM:609054] BRIP1 Q9BX63 VAR_023703 p.Trp647Cys Disease rs786202760 Fanconi anemia complementation group J (FANCJ) [MIM:609054] BRIP1 Q9BX63 VAR_023704 p.Arg707Cys Disease rs764803896 Fanconi anemia complementation group J (FANCJ) [MIM:609054] BRIP1 Q9BX63 VAR_052192 p.Ile633Met Polymorphism rs28997572 - BRIP1 Q9BX63 VAR_052193 p.Asp1148Glu Polymorphism rs28997573 - BRPF1 P55201 VAR_028232 p.Gly1117Glu Polymorphism rs1042294 - BRPF1 P55201 VAR_048430 p.His1193Gln Polymorphism rs36081837 - BRPF1 P55201 VAR_078077 p.Pro370Ser Disease rs1057519509Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333] BRPF1 P55201 VAR_078078 p.Cys389Arg Disease rs1057519515Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333] BRPF3 Q9ULD4 VAR_048431 p.Ala278Gly Polymorphism rs17658935 - BRPF3 Q9ULD4 VAR_061042 p.Ser177Gly Polymorphism rs45504893 - BRS3 P32247 VAR_011844 p.Thr53Pro Polymorphism rs5232 - BRS3 P32247 VAR_011845 p.Leu162Gln Polymorphism rs5234 - BRSK1 Q8TDC3 VAR_040394 p.Arg303Trp Unclassified rs144130246 A gastric adenocarcinoma sample BRSK1 Q8TDC3 VAR_040395 p.Val319Ile Unclassified - A lung large cell carcinoma sample BRSK1 Q8TDC3 VAR_040396 p.Gly391Glu Unclassified - A metastatic melanoma sample BRSK1 Q8TDC3 VAR_040397 p.Thr531Asn Polymorphism rs55892637 - BRSK1 Q8TDC3 VAR_040398 p.Gly749Ser Polymorphism rs12978445 - BRSK1 Q8TDC3 VAR_040399 p.Pro764Ala Polymorphism rs55796422 - BRWD1 Q9NSI6 VAR_026435 p.Gln83Glu Polymorphism rs2056844 - BRWD1 Q9NSI6 VAR_026436 p.Ser1511Pro Polymorphism rs2183573 - BRWD1 Q9NSI6 VAR_026437 p.Leu1699Pro Polymorphism rs1041439 - BRWD1 Q9NSI6 VAR_057584 p.Lys2156Arg Polymorphism rs2234548 - BRWD3 Q6RI45 VAR_031491 p.Lys1288Arg Polymorphism rs3122407 - BRWD3 Q6RI45 VAR_036940 p.Lys1596Glu Disease rs137853272 Mental retardation, X-linked 93 (MRX93) [MIM:300659] BSCL2 Q96G97 VAR_022375 p.Asn88Ser Disease rs137852972 Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794] BSCL2 Q96G97 VAR_022375 p.Asn88Ser Disease rs137852972 Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685] BSCL2 Q96G97 VAR_022376 p.Ser90Leu Disease rs137852973 Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794] BSCL2 Q96G97 VAR_022376 p.Ser90Leu Disease rs137852973 Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685] BSCL2 Q96G97 VAR_022377 p.Ala212Pro Disease rs137852971 Congenital generalized lipodystrophy 2 (CGL2) [MIM:269700] BSG P35613 VAR_011720 p.Gly269Val Polymorphism rs1803203 - BSG P35613 VAR_013574 p.Glu208Lys Polymorphism rs104894669 - BSND Q8WZ55 VAR_019783 p.Arg8Leu Disease rs74315288 Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522] BSND Q8WZ55 VAR_019784 p.Arg8Trp Disease rs74315285 Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522] BSND Q8WZ55 VAR_019785 p.Gly10Ser Disease rs74315287 Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522] BSND Q8WZ55 VAR_019786 p.Gly47Arg Disease rs74315289 Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A) [MIM:602522] BSND Q8WZ55 VAR_061564 p.Val43Ile Polymorphism rs34561376 - BSN Q9UPA5 VAR_055105 p.Ala741Thr Polymorphism rs34762726 - BSN Q9UPA5 VAR_055106 p.Gly1213Asp Polymorphism rs35762866 - BSN Q9UPA5 VAR_055107 p.Ala3863Thr Polymorphism rs2005557 - BSPRY Q5W0U4 VAR_026882 p.Gln293His Polymorphism rs818711 - BSPRY Q5W0U4 VAR_026883 p.Thr374Ile Polymorphism rs3088235 - BSPRY Q5W0U4 VAR_048397 p.Ala261Pro Polymorphism rs34089316 - BST1 Q10588 VAR_021964 p.Arg125His Polymorphism rs2302465 - BST1 Q10588 VAR_021965 p.Arg145Gln Polymorphism rs2302464 - BST1 Q10588 VAR_028438 p.Ala77Val Polymorphism rs2302466 - BST1 Q10588 VAR_028439 p.Ile101Val Polymorphism rs6840615 - BST2 Q10589 VAR_012067 p.Val143Phe Polymorphism rs1804402 - BTBD10 Q9BSF8 VAR_033638 p.Thr145Ala Polymorphism rs34185489 - BTBD11 A6QL63 VAR_042534 p.Ala1002Asp Polymorphism rs11610050 - BTBD11 A6QL63 VAR_042535 p.Gly1076Ser Polymorphism rs12303478 - BTBD11 A6QL63 VAR_055560 p.Gly448Ser Polymorphism rs1558781 - BTBD16 Q32M84 VAR_027070 p.Arg318Gln Polymorphism rs2421013 - BTBD16 Q32M84 VAR_027071 p.Gly331Asp Polymorphism rs986178 - BTBD16 Q32M84 VAR_027072 p.His439Pro Polymorphism rs1048347 - BTBD16 Q32M84 VAR_027073 p.Gln472Arg Polymorphism rs10510108 - BTBD18 B2RXH4 VAR_063155 p.Ser302Thr Polymorphism rs78162678 - BTBD18 B2RXH4 VAR_063156 p.Glu352Gly Polymorphism rs201912857 - BTBD8 Q5XKL5 VAR_033637 p.Lys136Arg Polymorphism rs17131602 - BTBD8 Q5XKL5 VAR_048436 p.Val60Ile Polymorphism rs34856868 - BTC P35070 VAR_029307 p.Cys7Gly Polymorphism rs28549760 - BTC P35070 VAR_029308 p.Leu124Met Polymorphism rs11938093 - BTC P35070 VAR_061151 p.Leu44Phe Polymorphism rs56320257 - BTD P43251 VAR_005113 p.Phe128Val Disease rs397514355 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005114 p.Ala171Thr Disease rs13073139 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005115 p.Asp228Tyr Disease rs397514380 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005116 p.His323Arg Disease rs397507176 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005117 p.Asp444His Disease rs13078881 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005118 p.Gly451Asp Disease rs397514419 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005119 p.Gln456His Disease rs80338685 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005120 p.Thr532Met Disease rs104893688 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_005121 p.Arg538Cys Disease rs80338686 Biotinidase deficiency (BTD deficiency) [MIM:253260] BTD P43251 VAR_056238 p.Pro391Ser Polymorphism rs35034250 - BTG1 P62324 VAR_021345 p.Asn139Ser Polymorphism rs28399541 - BTG1 P62324 VAR_021346 p.Gln141Glu Polymorphism rs28399542 - BTG2 P78543 VAR_048437 p.Val153Met Polymorphism rs12039961 - BTK Q06187 VAR_006216 p.Leu11Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006217 p.Lys12Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006218 p.Ser14Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006219 p.Phe25Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006220 p.Arg28His Disease rs128620185 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006221 p.Arg28Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006222 p.Thr33Pro Disease rs128620189 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006223 p.Val64Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006225 p.Val113Asp Disease rs128621190 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006227 p.Arg288Trp Disease rs128621194 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006228 p.Leu295Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006230 p.Gly302Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006231 p.Arg307Gly Disease rs128621195 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006232 p.Tyr334Ser Disease rs128621196 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006233 p.Leu358Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006234 p.Tyr361Cys Disease rs28935478 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006235 p.His362Gln Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006236 p.His364Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006237 p.Asn365Tyr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006238 p.Ile370Met Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006239 p.Leu408Pro Disease rs128621198 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006240 p.Tyr418His Disease rs144079566 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006241 p.Ile429Asn Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006242 p.Lys430Glu Disease rs128620184 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006243 p.Tyr476Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006244 p.Met477Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006245 p.Cys502Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006246 p.Cys502Trp Disease rs41310709 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006247 p.Cys506Arg Disease rs128621200 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006248 p.Cys506Tyr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006249 p.Met509Val Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006251 p.Arg520Gln Disease rs128621202 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006252 p.Asp521His Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006253 p.Asp521Asn Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006254 p.Arg525Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006255 p.Arg525Gln Disease rs128620183 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006256 p.Asn526Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006257 p.Leu542Pro Disease rs128621203 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006258 p.Arg544Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006259 p.Arg562Pro Disease rs104894770 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006260 p.Arg562Trp Disease rs128621204 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006261 p.Glu567Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006262 p.Trp581Arg Disease rs128621205 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006263 p.Ala582Val Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006264 p.Met587Leu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006265 p.Glu589Gly Disease rs128621206 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006267 p.Ser592Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006268 p.Gly594Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006269 p.Gly594Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006270 p.Tyr598Cys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006271 p.Ala607Asp Disease rs128621208 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006272 p.Gly613Asp Disease rs128621209 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006273 p.Pro619Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006274 p.Met630Ile Polymorphism - - BTK Q06187 VAR_006275 p.Met630Lys Disease rs128621210 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006276 p.Cys633Tyr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006277 p.Arg641Cys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006278 p.Arg641His Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006279 p.Phe644Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006280 p.Leu647Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_006281 p.Leu652Pro Disease rs128622212 X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008291 p.Lys19Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008292 p.Lys27Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008293 p.Arg28Cys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008294 p.Tyr40Cys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008295 p.Tyr40Asn Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008296 p.Ile61Asn Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008297 p.Val64Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008298 p.Ser115Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008299 p.Thr117Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008300 p.Gln127His Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008301 p.Cys154Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008302 p.Cys155Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008303 p.Cys155Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008304 p.Thr184Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008305 p.Arg288Gln Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008306 p.Gly302Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008307 p.Arg307Thr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008308 p.Asp308Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008309 p.Val319Ala Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008310 p.Ser366Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008311 p.Leu369Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008312 p.Arg372Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008313 p.Gly414Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008314 p.Lys430Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008315 p.Glu445Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008316 p.Gly462Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008317 p.Gly462Val Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008318 p.Ala508Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008319 p.Met509Ile Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008320 p.Leu518Arg Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008321 p.Asp521Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008322 p.Ala523Glu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008323 p.Arg525Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008324 p.Val535Phe Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008325 p.Phe559Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008326 p.Trp563Leu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008327 p.Phe583Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008328 p.Glu589Asp Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008330 p.Pro619Ala Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008331 p.Pro619Thr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008332 p.Ala622Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008333 p.Val626Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008334 p.Met630Thr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008335 p.Phe644Leu Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008960 p.Tyr39Ser Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008961 p.Leu512Pro Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008962 p.Leu512Gln Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008963 p.Arg544Gly Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008964 p.Ser578Tyr Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_008965 p.Glu589Lys Disease - X-linked agammaglobulinemia (XLA) [MIM:300755] BTK Q06187 VAR_041676 p.Arg82Lys Polymorphism rs56035945 - BTK Q06187 VAR_041677 p.Pro190Lys Unclassified - A lung large cell carcinoma sample BTK Q06187 VAR_074309 p.Cys481Ser Unclassified rs1057519825- BTLA Q7Z6A9 VAR_027607 p.Arg157Ser Polymorphism rs2931761 - BTLA Q7Z6A9 VAR_027608 p.Pro267Leu Polymorphism rs9288952 - BTLA Q7Z6A9 VAR_056027 p.Ile124Val Polymorphism rs16859633 - BTN1A1 Q13410 VAR_021169 p.Ala213Thr Polymorphism rs3736781 - BTN1A1 Q13410 VAR_026546 p.Asp503Glu Polymorphism rs9393728 - BTN1A1 Q13410 VAR_030770 p.Val303Ala Polymorphism rs1980600 - BTN1A1 Q13410 VAR_061302 p.Pro521Ser Polymorphism rs35555795 - BTN2A1 Q7KYR7 VAR_049825 p.Arg124Cys Polymorphism rs3734539 - BTN2A1 Q7KYR7 VAR_049826 p.Val207Met Polymorphism rs13195509 - BTN2A1 Q7KYR7 VAR_049827 p.Arg378Gln Polymorphism rs3734542 - BTN2A1 Q7KYR7 VAR_049828 p.Gly451Ala Polymorphism rs3734543 - BTN2A1 Q7KYR7 VAR_061303 p.Trp178Cys Polymorphism rs13195402 - BTN2A1 Q7KYR7 VAR_061304 p.Trp178Leu Polymorphism rs13195401 - BTN2A2 Q8WVV5 VAR_049829 p.Pro479Ser Polymorphism rs16891646 - BTN2A3P Q96KV6 VAR_049830 p.Gly79Asp Polymorphism rs7745238 - BTN2A3P Q96KV6 VAR_049831 p.Val148Ile Polymorphism rs10946829 - BTN2A3P Q96KV6 VAR_049832 p.Asn300Ser Polymorphism rs2893848 - BTN3A1 O00481 VAR_021170 p.Ser224Asn Polymorphism rs1057933 - BTN3A1 O00481 VAR_028788 p.Pro456Thr Polymorphism rs4712990 - BTN3A1 O00481 VAR_061305 p.Arg15His Polymorphism rs56161420 - BTN3A1 O00481 VAR_061306 p.Arg282Thr Polymorphism rs41266839 - BTN3A2 P78410 VAR_026211 p.Asn181Asp Polymorphism rs9358936 - BTN3A2 P78410 VAR_049833 p.Arg167Thr Polymorphism rs9379861 - BTN3A2 P78410 VAR_049834 p.Ala182Thr Polymorphism rs12205731 - BTN3A2 P78410 VAR_049835 p.Arg211Lys Polymorphism rs35183513 - BTN3A2 P78410 VAR_049836 p.Ser307Asn Polymorphism rs13216828 - BTNL2 Q9UIR0 VAR_021171 p.Lys196Glu Polymorphism rs2076523 - BTNL2 Q9UIR0 VAR_029128 p.Ser334Leu Polymorphism rs28362679 - BTNL2 Q9UIR0 VAR_033602 p.Trp94Arg Polymorphism rs28362682 - BTNL2 Q9UIR0 VAR_033603 p.Asp283Val Polymorphism rs34423804 - BTNL2 Q9UIR0 VAR_033604 p.Ala352Thr Polymorphism rs35037492 - BTNL2 Q9UIR0 VAR_033605 p.Pro379Leu Polymorphism rs28362678 - BTNL2 Q9UIR0 VAR_033606 p.Met380Ile Polymorphism rs28362677 - BTNL2 Q9UIR0 VAR_033607 p.Pro393Gln Polymorphism rs41521946 - BTNL2 Q9UIR0 VAR_049837 p.Val188Met Polymorphism rs9461742 - BTNL2 Q9UIR0 VAR_049838 p.Ser360Gly Polymorphism rs2076530 - BTNL2 Q9UIR0 VAR_061307 p.Arg181Gln Polymorphism rs28362681 - BTNL2 Q9UIR0 VAR_061308 p.Ala202Val Polymorphism rs28362680 - BTNL8 Q6UX41 VAR_049839 p.Thr143Ala Polymorphism rs2276995 - BTNL8 Q6UX41 VAR_049840 p.Glu229Lys Polymorphism rs7724813 - BTNL8 Q6UX41 VAR_069135 p.His311Gln Polymorphism rs146303629 - BTNL8 Q6UX41 VAR_069136 p.Thr326Lys Polymorphism rs7703365 - BTNL8 Q6UX41 VAR_069137 p.Ala477Thr Polymorphism rs113820381 - BTNL9 Q6UXG8 VAR_049841 p.Gly511Arg Polymorphism rs10068763 - BTRC Q9Y297 VAR_020119 p.Pro592His Polymorphism rs2270439 - BTRC Q9Y297 VAR_022027 p.Ala543Ser Polymorphism rs4151060 - BUB1B O60566 VAR_008852 p.Met15Thr Unclassified rs1392369693A colorectal cancer cell line BUB1B O60566 VAR_008853 p.Arg349Gln Polymorphism rs1801376 - BUB1B O60566 VAR_008854 p.Val618Ala Unclassified rs1801528 Colorectal cancer BUB1B O60566 VAR_028921 p.Arg36Gln Disease rs534297115 Premature chromatid separation trait (PCS) [MIM:176430] BUB1B O60566 VAR_028922 p.Glu390Asp Polymorphism rs1017842 - BUB1B O60566 VAR_028923 p.Arg550Gln Disease rs28989187 Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028924 p.Arg814His Disease rs28989182 Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028925 p.Leu844Phe Disease rs28989181 Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028926 p.Ile909Thr Disease rs28989184 Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028927 p.Gln921His Disease rs28989183 Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_028928 p.Leu1012Pro Disease rs28989185 Mosaic variegated aneuploidy syndrome 1 (MVA1) [MIM:257300] BUB1B O60566 VAR_040402 p.Thr40Met Polymorphism rs56079734 - BUB1B O60566 VAR_054549 p.Pro378Ser Polymorphism rs17851677 - BUB1 O43683 VAR_008849 p.Glu36Asp Unclassified rs1801328 Colorectal cancer BUB1 O43683 VAR_008850 p.Ser492Tyr Unclassified rs121909055 Colorectal cancer BUB1 O43683 VAR_008851 p.Pro648Arg Unclassified rs376649190 Colorectal cancer BUB1 O43683 VAR_015687 p.Tyr259Cys Unclassified - Pancreatic cancer BUB1 O43683 VAR_015688 p.His265Asn Unclassified - Pancreatic cancer BUB1 O43683 VAR_040400 p.Gly20Asp Polymorphism rs35890336 - BUB1 O43683 VAR_040401 p.Asn534Asp Polymorphism rs36109304 - BUD13 Q9BRD0 VAR_032343 p.Arg120Cys Polymorphism rs10488698 - BUD13 Q9BRD0 VAR_032344 p.Pro148Leu Polymorphism rs11820589 - BUD13 Q9BRD0 VAR_032345 p.Arg242Ile Polymorphism rs11216131 - BUD13 Q9BRD0 VAR_053908 p.Ser388Cys Polymorphism rs35004487 - BVES Q8NE79 VAR_017155 p.Arg129Trp Polymorphism rs2275289 - BVES Q8NE79 VAR_053600 p.Met127Ile Polymorphism rs9486039 - BVES Q8NE79 VAR_075625 p.Ser201Phe Disease rs869025337 Cardiac arrhythmia with increased serum creatine kinase (CARICK) [MIM:616812] BYSL Q13895 VAR_033641 p.Glu103Lys Polymorphism rs2296916 - BYSL Q13895 VAR_048439 p.Pro426Ser Polymorphism rs3828855 - BZW2 Q9Y6E2 VAR_033642 p.Asp44Ala Polymorphism rs35233079 - C10orf111 Q8N326 VAR_050857 p.Arg70Lys Polymorphism rs7896053 - C10orf113 Q5VZT2 VAR_028801 p.Asp110His Polymorphism rs625223 - C10orf113 Q5VZT2 VAR_050858 p.Arg72Gly Polymorphism rs11591355 - C10orf120 Q5SQS8 VAR_050859 p.Thr20Lys Polymorphism rs41448048 - C10orf120 Q5SQS8 VAR_050860 p.Ala269Thr Polymorphism rs2947594 - C10orf25 Q5T742 VAR_047102 p.Ile63Asn Polymorphism rs12269028 - C10orf25 Q5T742 VAR_061603 p.Pro61Leu Polymorphism rs41301609 - C10orf62 Q5T681 VAR_030216 p.Glu121Asp Polymorphism rs7093840 - C10orf82 Q8WW14 VAR_050854 p.Thr124Met Polymorphism rs11551267 - C10orf90 Q96M02 VAR_030908 p.Arg134His Polymorphism rs11245008 - C10orf90 Q96M02 VAR_030909 p.Asp262Asn Polymorphism rs11245007 - C10orf90 Q96M02 VAR_050855 p.Met57Ile Polymorphism rs11558415 - C10orf90 Q96M02 VAR_050856 p.Asp531Glu Polymorphism rs12412320 - C10orf91 Q5T1B1 VAR_033694 p.Glu144Gly Polymorphism rs11146376 - C11orf16 Q9NQ32 VAR_056827 p.Pro144Leu Polymorphism rs2568076 - C11orf16 Q9NQ32 VAR_056828 p.Val210Leu Polymorphism rs11042127 - C11orf1 Q9H5F2 VAR_050861 p.Lys49Gln Polymorphism rs11540721 - C11orf1 Q9H5F2 VAR_050862 p.Gln85His Polymorphism rs3180820 - C11orf1 Q9H5F2 VAR_054163 p.Val40Ala Polymorphism rs9280 - C11orf24 Q96F05 VAR_027713 p.Gly97Val Polymorphism rs3802746 - C11orf24 Q96F05 VAR_027714 p.Ala150Thr Polymorphism rs901827 - C11orf40 Q8WZ69 VAR_029581 p.Phe100Ser Polymorphism rs12795289 - C11orf42 Q8N5U0 VAR_026831 p.Pro242Ser Polymorphism rs10769671 - C11orf52 Q96A22 VAR_029587 p.Thr23Arg Polymorphism rs7124407 - C11orf68 Q9H3H3 VAR_060319 p.Gln195Arg Polymorphism rs7947504 - C11orf72 Q8NBR9 VAR_029584 p.Pro22Thr Polymorphism rs12421329 - C11orf94 C9JXX5 VAR_063154 p.Gln80His Polymorphism rs2271849 - C11orf96 Q7Z7L8 VAR_039242 p.Thr26Ala Polymorphism rs1973717 - C11orf96 Q7Z7L8 VAR_039243 p.Ser47Pro Polymorphism rs12797684 - C11orf96 Q7Z7L8 VAR_039244 p.Arg110Ser Polymorphism rs12796438 - C11orf96 Q7Z7L8 VAR_039245 p.Arg144Cys Polymorphism rs12796667 - C11orf96 Q7Z7L8 VAR_039246 p.Phe151Ser Polymorphism rs12798337 - C11orf96 Q7Z7L8 VAR_039247 p.Pro352Ser Polymorphism rs2434483 - C12orf10 Q9HB07 VAR_059854 p.Thr349Ile Polymorphism rs1534282 - C12orf29 Q8N999 VAR_035197 p.Pro23Leu Polymorphism rs11541954 - C12orf29 Q8N999 VAR_035198 p.Val238Leu Polymorphism rs9262 - C12orf40 Q86WS4 VAR_061610 p.Ile13Leu Polymorphism rs58302581 - C12orf42 Q96LP6 VAR_030229 p.Glu11Asp Polymorphism rs10778257 - C12orf42 Q96LP6 VAR_030230 p.Pro182Arg Polymorphism rs7484376 - C12orf45 Q8N5I9 VAR_056833 p.Gly5Ser Polymorphism rs12580271 - C12orf45 Q8N5I9 VAR_060438 p.Lys8Gln Polymorphism rs1129593 - C12orf49 Q9H741 VAR_033154 p.Gln55Arg Polymorphism rs10507274 - C12orf50 Q8NA57 VAR_033266 p.Gln306Arg Polymorphism rs10777084 - C12orf50 Q8NA57 VAR_033267 p.Arg322His Polymorphism rs11104703 - C12orf54 Q6X4T0 VAR_030252 p.Pro86Ser Polymorphism rs11458 - C12orf57 Q99622 VAR_069774 p.Leu51Gln Disease rs587776955 Temtamy syndrome (TEMTYS) [MIM:218340] C12orf60 Q5U649 VAR_030226 p.Lys51Arg Polymorphism rs17853860 - C12orf60 Q5U649 VAR_030227 p.Lys65Arg Polymorphism rs7304054 - C12orf60 Q5U649 VAR_030228 p.Asn103Lys Polymorphism rs7307438 - C12orf65 Q9H3J6 VAR_037325 p.Ala134Thr Polymorphism rs1045496 - C12orf66 Q96MD2 VAR_039371 p.Met139Ile Polymorphism rs2335390 - C12orf66 Q96MD2 VAR_039372 p.Ala443Ser Polymorphism rs699638 - C12orf71 A8MTZ7 VAR_056837 p.Ile140Val Polymorphism rs708167 - C12orf73 Q69YU5 VAR_062284 p.Arg45Cys Polymorphism rs2293624 - C12orf76 Q8N812 VAR_039916 p.Ala26Thr Unclassified - A colorectal cancer sample C12orf77 C9JDV5 VAR_062957 p.Leu131Phe Polymorphism rs864161 - C14orf119 Q9NWQ9 VAR_033744 p.Leu16Val Polymorphism rs35065609 - C14orf177 Q52M58 VAR_030224 p.Arg3Trp Polymorphism rs17097718 - C14orf177 Q52M58 VAR_030225 p.Val33Ala Polymorphism rs4905757 - C14orf178 Q8N769 VAR_030248 p.His26Tyr Polymorphism rs8015313 - C14orf93 Q9H972 VAR_050875 p.Ala190Val Polymorphism rs3829409 - C15orf32 Q32M92 VAR_050884 p.Ala17Thr Polymorphism rs1455773 - C15orf39 Q6ZRI6 VAR_026891 p.Ala119Pro Polymorphism rs1873379 - C15orf39 Q6ZRI6 VAR_026892 p.Gly491Asp Polymorphism rs11072532 - C15orf39 Q6ZRI6 VAR_026893 p.Ser536Ala Polymorphism rs28509789 - C15orf39 Q6ZRI6 VAR_026894 p.Gly945Asp Polymorphism rs3743211 - C15orf40 Q8WUR7 VAR_069397 p.Ala89Thr Polymorphism rs376937425 - C15orf41 Q9Y2V0 VAR_059622 p.Leu73Val Polymorphism rs3784678 - C15orf41 Q9Y2V0 VAR_070876 p.Tyr94Cys Disease rs587777101 Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] C15orf41 Q9Y2V0 VAR_070877 p.Leu178Gln Disease rs587777100 Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] C15orf53 Q8NAA6 VAR_044023 p.Leu3Val Polymorphism rs7165988 - C15orf53 Q8NAA6 VAR_044024 p.Ala39Val Polymorphism rs11857596 - C15orf54 Q8N8G6 VAR_044189 p.Thr59Met Polymorphism rs11853050 - C15orf54 Q8N8G6 VAR_044190 p.Glu77Lys Polymorphism rs16968547 - C15orf56 Q8N910 VAR_061614 p.Pro119Ser Polymorphism rs55863440 - C15orf56 Q8N910 VAR_061615 p.Pro151Arg Polymorphism rs55974545 - C15orf56 Q8N910 VAR_061616 p.Ile160Thr Polymorphism rs55799438 - C16orf46 Q6P387 VAR_030893 p.Thr77Ser Polymorphism rs17855893 - C16orf46 Q6P387 VAR_030894 p.Ile288Thr Polymorphism rs7198494 - C16orf46 Q6P387 VAR_030895 p.Tyr335His Polymorphism rs10459872 - C16orf46 Q6P387 VAR_030896 p.Lys357Glu Polymorphism rs9930623 - C16orf46 Q6P387 VAR_030897 p.Pro388Ser Polymorphism rs12929250 - C16orf58 Q96GQ5 VAR_031439 p.Tyr185Cys Polymorphism rs17855405 - C16orf58 Q96GQ5 VAR_036485 p.Gly43Glu Unclassified - A breast cancer sample C16orf62 Q7Z3J2 VAR_037230 p.Tyr32Cys Polymorphism rs17854969 - C16orf62 Q7Z3J2 VAR_037231 p.Asn186Ile Polymorphism rs7206637 - C16orf62 Q7Z3J2 VAR_037232 p.Ala506Val Polymorphism rs17854970 - C16orf71 Q8IYS4 VAR_033157 p.Glu88Asp Polymorphism rs17137215 - C16orf71 Q8IYS4 VAR_033158 p.Pro143Ser Polymorphism rs17137230 - C16orf71 Q8IYS4 VAR_033159 p.Ser190Leu Polymorphism rs35599524 - C16orf71 Q8IYS4 VAR_033160 p.Glu232Lys Polymorphism rs35002791 - C16orf71 Q8IYS4 VAR_033161 p.Ala241Val Polymorphism rs7202010 - C16orf71 Q8IYS4 VAR_033162 p.Arg302Cys Polymorphism rs2075469 - C16orf71 Q8IYS4 VAR_033163 p.Gln354Arg Polymorphism rs737700 - C16orf71 Q8IYS4 VAR_061618 p.Pro465Leu Polymorphism rs17853375 - C16orf72 Q14CZ0 VAR_034657 p.Asn221Ser Polymorphism rs34869458 - C16orf78 Q8WTQ4 VAR_034632 p.Arg152Gln Polymorphism rs16947350 - C16orf89 Q6UX73 VAR_040004 p.Leu296Ser Polymorphism rs1127920 - C16orf89 Q6UX73 VAR_040005 p.Tyr363His Polymorphism rs11642955 - C16orf89 Q6UX73 VAR_057992 p.Gly215Ala Polymorphism rs17853191 - C17orf102 A2RUQ5 VAR_046187 p.Gly98Arg Polymorphism rs58529418 - C17orf102 A2RUQ5 VAR_046188 p.Arg155Lys Polymorphism rs887230 - C17orf47 Q8NEP4 VAR_032122 p.Pro88Thr Polymorphism rs8071623 - C17orf47 Q8NEP4 VAR_032123 p.Gly461Ser Polymorphism rs17822735 - C17orf47 Q8NEP4 VAR_032124 p.Cys546Gly Polymorphism rs16943091 - C17orf50 Q8WW18 VAR_050899 p.Asp22Glu Polymorphism rs4795087 - C17orf53 Q8N3J3 VAR_032393 p.Thr126Pro Polymorphism rs227584 - C17orf58 Q2M2W7 VAR_030902 p.Ile92Val Polymorphism rs9891146 - C17orf77 Q96MU5 VAR_029628 p.Arg47Ser Polymorphism rs493430 - C17orf78 Q8N4C9 VAR_034877 p.Thr152Ser Polymorphism rs1714987 - C17orf80 Q9BSJ5 VAR_031779 p.Gly226Ser Polymorphism rs9902726 - C17orf80 Q9BSJ5 VAR_031780 p.Lys322Gln Polymorphism rs34784472 - C17orf80 Q9BSJ5 VAR_031781 p.Phe356Leu Polymorphism rs745143 - C17orf80 Q9BSJ5 VAR_031782 p.His395Asn Polymorphism rs904384 - C17orf80 Q9BSJ5 VAR_031783 p.Cys396Arg Polymorphism rs904383 - C17orf80 Q9BSJ5 VAR_031784 p.Gln420His Polymorphism rs745142 - C17orf80 Q9BSJ5 VAR_031785 p.Ala522Thr Polymorphism rs1566286 - C17orf82 Q86X59 VAR_031769 p.Leu186Pro Polymorphism rs9907379 - C17orf98 A8MV24 VAR_044022 p.Pro61Leu Polymorphism rs7210156 - C17orf99 Q6UX52 VAR_067466 p.Trp101Arg Polymorphism rs4789017 - C18orf21 Q32NC0 VAR_030903 p.Thr132Ala Polymorphism rs2276314 - C18orf32 Q8TCD1 VAR_039374 p.Pro37His Polymorphism rs11537626 - C19orf12 Q9NSK7 VAR_066617 p.Thr11Met Disease rs397514477 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_066618 p.Gly53Arg Disease rs200133991 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_066619 p.Gly65Glu Disease rs752450983 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_066620 p.Gly69Arg Disease rs515726205 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_066621 p.Lys142Glu Unclassified rs146170087 - C19orf12 Q9NSK7 VAR_066622 p.Lys142Thr Polymorphism rs79915936 - C19orf12 Q9NSK7 VAR_069756 p.Ser39Phe Disease rs1204865094Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069757 p.Ala48Pro Disease - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069758 p.Pro60Leu Disease rs1424999393Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069759 p.Gly65Val Disease rs752450983 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069760 p.Pro83Leu Disease rs201987973 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069761 p.Arg98Ser Disease rs1384930997Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069762 p.Leu121Gln Disease - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069763 p.Ala134Pro Unclassified rs1264612218Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_069764 p.Gln149Arg Polymorphism rs73023451 - C19orf12 Q9NSK7 VAR_070668 p.Ala63Pro Disease rs376103979 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_070668 p.Ala63Pro Disease rs376103979 Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043] C19orf12 Q9NSK7 VAR_076803 p.Gly58Ser Disease rs1358503478Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf12 Q9NSK7 VAR_076804 p.Gln96Pro Disease - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] C19orf18 Q8NEA5 VAR_050909 p.His208Tyr Polymorphism rs8110831 - C19orf48 Q6RUI8 VAR_029852 p.Val7Ile Polymorphism rs7251816 - C19orf48 Q6RUI8 VAR_029853 p.Arg84Cys Polymorphism rs4802741 - C19orf48 Q6RUI8 VAR_029854 p.Gly104Glu Polymorphism rs4801853 - C19orf53 Q9UNZ5 VAR_053783 p.Lys39Arg Polymorphism rs10104 - C19orf57 Q0VDD7 VAR_033356 p.Gly267Arg Polymorphism rs2305775 - C19orf57 Q0VDD7 VAR_033357 p.Gln500Arg Polymorphism rs3803892 - C19orf71 A6NCJ1 VAR_061253 p.Pro83Leu Polymorphism rs12608919 - C19orf71 A6NCJ1 VAR_061254 p.Ala137Val Polymorphism rs6510758 - C19orf73 Q9NVV2 VAR_046164 p.Ser106Gly Polymorphism rs2232003 - C1D Q13901 VAR_053990 p.Ser127Pro Polymorphism rs10444 - C1GALT1C1 Q96EU7 VAR_031910 p.Asp131Glu Polymorphism rs17261572 - C1GALT1C1 Q96EU7 VAR_031911 p.Glu152Lys Disease rs137853599 Tn polyagglutination syndrome (TNPS) [MIM:300622] C1GALT1C1 Q96EU7 VAR_069274 p.Ala143Val Polymorphism rs45557031 - C1GALT1C1 Q96EU7 VAR_069275 p.Ser193Pro Disease rs397514537 Tn polyagglutination syndrome (TNPS) [MIM:300622] C1GALT1C1 Q96EU7 VAR_069276 p.Gln222His Polymorphism rs200973382 - C1orf105 O95561 VAR_027710 p.Met97Val Polymorphism rs16844498 - C1orf105 O95561 VAR_027711 p.Ser137Asn Polymorphism rs1129942 - C1orf112 Q9NSG2 VAR_030906 p.Ala481Ser Polymorphism rs2272920 - C1orf127 Q8N9H9 VAR_031750 p.Ala530Val Polymorphism rs1281018 - C1orf127 Q8N9H9 VAR_056766 p.Arg256Gln Polymorphism rs1281012 - C1orf127 Q8N9H9 VAR_056767 p.Val366Asp Polymorphism rs1281016 - C1orf131 Q8NDD1 VAR_031906 p.Leu28Val Polymorphism rs2274067 - C1orf141 Q5JVX7 VAR_033186 p.Glu85Gly Polymorphism rs2273682 - C1orf141 Q5JVX7 VAR_033187 p.Val189Ile Polymorphism rs11208997 - C1orf147 Q96MC9 VAR_027074 p.Gly213Ala Polymorphism rs2336940 - C1orf147 Q96MC9 VAR_027075 p.Pro233Ser Polymorphism rs11118256 - C1orf147 Q96MC9 VAR_027076 p.Thr259Met Polymorphism rs17024805 - C1orf158 Q8N1D5 VAR_027091 p.Phe191Leu Polymorphism rs1132185 - C1orf162 Q8NEQ5 VAR_035106 p.Gly3Ser Polymorphism rs6703267 - C1orf167 Q5SNV9 VAR_035266 p.Pro453Ser Polymorphism rs6668699 - C1orf167 Q5SNV9 VAR_035267 p.Arg544Gln Polymorphism rs4845880 - C1orf167 Q5SNV9 VAR_035268 p.Arg602Trp Polymorphism rs6667720 - C1orf167 Q5SNV9 VAR_035269 p.Trp782Arg Polymorphism rs6699881 - C1orf167 Q5SNV9 VAR_035270 p.Arg800Cys Polymorphism rs7538516 - C1orf167 Q5SNV9 VAR_035271 p.Ser848Ile Polymorphism rs6697244 - C1orf167 Q5SNV9 VAR_035272 p.Arg944His Polymorphism rs4846043 - C1orf167 Q5SNV9 VAR_035273 p.Trp955Arg Polymorphism rs4846044 - C1orf167 Q5SNV9 VAR_035274 p.Arg1215His Polymorphism rs3737967 - C1orf167 Q5SNV9 VAR_035275 p.Cys1295Ser Polymorphism rs1537514 - C1orf167 Q5SNV9 VAR_035276 p.Arg1451Gly Polymorphism rs868014 - C1orf174 Q8IYL3 VAR_033152 p.Thr53Arg Polymorphism rs4274008 - C1orf174 Q8IYL3 VAR_033153 p.Ala101Ser Polymorphism rs10909820 - C1orf174 Q8IYL3 VAR_057829 p.Pro165Ala Polymorphism rs12036962 - C1orf198 Q9H425 VAR_050707 p.Ala274Ser Polymorphism rs34864456 - C1orf198 Q9H425 VAR_050708 p.Lys306Arg Polymorphism rs35115679 - C1orf210 Q8IVY1 VAR_033655 p.Ser12Leu Polymorphism rs35465732 - C1orf220 Q5T0J3 VAR_056768 p.Pro3Leu Polymorphism rs12568310 - C1orf50 Q9BV19 VAR_054409 p.Thr178Met Polymorphism rs11548275 - C1orf74 Q96LT6 VAR_050701 p.Leu146Phe Polymorphism rs7550857 - C1orf87 Q8N0U7 VAR_031745 p.Leu185Val Polymorphism rs12737449 - C1orf87 Q8N0U7 VAR_031746 p.Asn301Asp Polymorphism rs17120025 - C1orf87 Q8N0U7 VAR_031747 p.Lys403Glu Polymorphism rs626251 - C1orf87 Q8N0U7 VAR_031748 p.Ala406Pro Polymorphism rs35260089 - C1orf87 Q8N0U7 VAR_035493 p.Gln151Glu Unclassified - A breast cancer sample C1orf94 Q6P1W5 VAR_031051 p.Gln235Glu Polymorphism rs1382602 - C1orf94 Q6P1W5 VAR_031052 p.Asp302Glu Polymorphism rs1414474 - C1orf94 Q6P1W5 VAR_050702 p.Tyr438His Polymorphism rs17556981 - C1QA P02745 VAR_021090 p.Glu23Lys Polymorphism rs17887074 - C1QB P02746 VAR_008541 p.Gly42Asp Disease - Complement component C1q deficiency (C1QD) [MIM:613652] C1QB P02746 VAR_035551 p.Ala123Thr Unclassified rs776292843 A breast cancer sample C1QBP Q07021 VAR_080391 p.Cys186Ser Unclassified rs748497469 Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] C1QBP Q07021 VAR_080393 p.Phe204Leu Unclassified rs767427194 Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] C1QBP Q07021 VAR_080394 p.Gly247Trp Disease - Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] C1QBP Q07021 VAR_080395 p.Leu275Phe Unclassified - Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] C1QBP Q07021 VAR_080396 p.Leu275Pro Disease - Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] C1QC P02747 VAR_008542 p.Gly34Arg Disease rs200206736 Complement component C1q deficiency (C1QD) [MIM:613652] C1QTNF12 Q5T7M4 VAR_054065 p.Gly14Arg Polymorphism rs7539412 - C1QTNF1 Q9BXJ1 VAR_068885 p.Arg241Gln Polymorphism rs35035542 - C1QTNF4 Q9BXJ3 VAR_081086 p.His198Gln Unclassified - - C1QTNF4 Q9BXJ3 VAR_081087 p.Gly301Asp Unclassified - - C1QTNF5 Q9BXJ0 VAR_032628 p.Gln44Arg Polymorphism rs11538245 - C1QTNF5 Q9BXJ0 VAR_032629 p.Ser163Arg Disease rs111033578 Late-onset retinal degeneration (LORD) [MIM:605670] C1QTNF6 Q9BXI9 VAR_046624 p.Gly21Val Polymorphism rs229527 - C1QTNF6 Q9BXI9 VAR_046625 p.Pro42Arg Polymorphism rs229526 - C1QTNF6 Q9BXI9 VAR_046626 p.Gly55Asp Polymorphism rs7290488 - C1QTNF6 Q9BXI9 VAR_046627 p.Pro138Leu Polymorphism rs17812699 - C1QTNF6 Q9BXI9 VAR_046628 p.Arg226His Polymorphism rs17812681 - C1QTNF9 P0C862 VAR_032840 p.Met219Val Polymorphism rs3751357 - C1QTNF9 P0C862 VAR_032841 p.Val301Met Polymorphism rs4589405 - C1QTNF9 P0C862 VAR_059148 p.Leu6Phe Polymorphism rs1974332 - C1RL Q9NZP8 VAR_038852 p.Ile285Val Polymorphism rs3742089 - C1R P00736 VAR_016103 p.Ser152Leu Polymorphism rs1801046 - C1R P00736 VAR_018667 p.Tyr131His Polymorphism - - C1R P00736 VAR_018668 p.His163Tyr Polymorphism - - C1R P00736 VAR_018669 p.Glu184Lys Polymorphism rs1126605 - C1R P00736 VAR_018670 p.Gly261Arg Polymorphism rs3813728 - C1R P00736 VAR_047933 p.Thr186Arg Polymorphism rs4519167 - C1R P00736 VAR_077106 p.Val50Asp Disease - Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077107 p.Asp290Gly Unclassified - Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077108 p.Gly297Asp Unclassified - Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077109 p.Leu300Pro Unclassified - Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077110 p.Arg301Pro Unclassified - Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077111 p.Tyr302Cys Disease - Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077113 p.Cys309Trp Disease - Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077114 p.Cys338Arg Disease - Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077115 p.Cys358Phe Disease - Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077116 p.Trp364Cys Unclassified - Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077117 p.Cys371Trp Disease - Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1R P00736 VAR_077119 p.Trp435Arg Unclassified - Ehlers-Danlos syndrome, periodontal type, 1 (EDSPD1) [MIM:130080] C1S P09871 VAR_014565 p.Arg383His Polymorphism rs20573 - C1S P09871 VAR_033643 p.Arg119His Polymorphism rs12146727 - C1S P09871 VAR_033644 p.Val327Leu Polymorphism rs2239170 - C1S P09871 VAR_077120 p.Cys294Arg Disease rs886040975 Ehlers-Danlos syndrome, periodontal type, 2 (EDSPD2) [MIM:617174] C20orf144 Q9BQM9 VAR_050921 p.Gln62Arg Polymorphism rs7260921 - C20orf173 Q96LM9 VAR_024334 p.Lys141Glu Polymorphism rs7261862 - C20orf194 Q5TEA3 VAR_050923 p.Thr481Pro Polymorphism rs16988463 - C20orf194 Q5TEA3 VAR_050924 p.Arg577Gly Polymorphism rs2422864 - C20orf194 Q5TEA3 VAR_059637 p.Thr86Met Polymorphism rs8124486 - C20orf194 Q5TEA3 VAR_065913 p.Phe265Leu Polymorphism rs149767043 - C20orf85 Q9H1P6 VAR_033759 p.Arg26His Polymorphism rs16984945 - C20orf85 Q9H1P6 VAR_033760 p.Ile99Val Polymorphism rs17440813 - C20orf85 Q9H1P6 VAR_061632 p.Arg34Gln Polymorphism rs45576936 - C20orf96 Q9NUD7 VAR_056847 p.Ile305Phe Polymorphism rs3827147 - C22orf23 Q9BZE7 VAR_057346 p.Met136Leu Polymorphism rs35562630 - C22orf24 Q9Y442 VAR_050934 p.His11Leu Polymorphism rs1984388 - C22orf31 O95567 VAR_028808 p.Cys46Arg Polymorphism rs9625679 - C22orf31 O95567 VAR_028809 p.Thr210Arg Polymorphism rs714136 - C22orf42 Q6IC83 VAR_045606 p.Leu73Pro Polymorphism rs5998267 - C2CD2L O14523 VAR_028797 p.Arg413Trp Polymorphism rs2239896 - C2CD2 Q9Y426 VAR_050928 p.Val211Ala Polymorphism rs2839421 - C2CD2 Q9Y426 VAR_050929 p.Thr618Ala Polymorphism rs9981024 - C2CD3 Q4AC94 VAR_037181 p.Pro773Arg Polymorphism rs34050666 - C2CD3 Q4AC94 VAR_037182 p.Arg997Gln Polymorphism rs11235995 - C2CD3 Q4AC94 VAR_037183 p.Arg1219Gln Polymorphism rs826058 - C2CD3 Q4AC94 VAR_037184 p.Tyr1297Cys Polymorphism rs1095423 - C2CD3 Q4AC94 VAR_037185 p.Ser1663Asn Polymorphism rs12419308 - C2CD3 Q4AC94 VAR_037186 p.Gly1831Trp Polymorphism rs1632245 - C2CD3 Q4AC94 VAR_037187 p.Arg1832Gly Polymorphism rs1632242 - C2CD3 Q4AC94 VAR_071196 p.Cys1029Gly Disease rs587777654 Orofaciodigital syndrome 14 (OFD14) [MIM:615948] C2CD3 Q4AC94 VAR_075697 p.Gly1743Cys Polymorphism rs1064793399- C2CD4B A6NLJ0 VAR_039696 p.Phe276Val Polymorphism rs8040712 - C2CD4B A6NLJ0 VAR_039697 p.Asp346Glu Polymorphism rs1055090 - C2CD6 Q53TS8 VAR_024769 p.His376Gln Polymorphism rs10804117 - C2CD6 Q53TS8 VAR_035787 p.Lys123Met Unclassified - A colorectal cancer sample C2orf16 Q68DN1 VAR_031313 p.Arg357Gly Polymorphism rs17006143 - C2orf16 Q68DN1 VAR_031314 p.Asp505Val Polymorphism rs13410886 - C2orf16 Q68DN1 VAR_031315 p.Thr655Ser Polymorphism rs1919125 - C2orf16 Q68DN1 VAR_031316 p.Ala660Glu Polymorphism rs1919126 - C2orf16 Q68DN1 VAR_031317 p.Val685Ala Polymorphism rs1919127 - C2orf16 Q68DN1 VAR_031318 p.Ile767Thr Polymorphism rs13416968 - C2orf16 Q68DN1 VAR_031319 p.Ile774Val Polymorphism rs1919128 - C2orf16 Q68DN1 VAR_031320 p.Ser1500Phe Polymorphism rs12618071 - C2orf16 Q68DN1 VAR_031321 p.His1559Tyr Polymorphism rs13392197 - C2orf16 Q68DN1 VAR_031322 p.Asn1613Ser Polymorphism rs13031957 - C2orf16 Q68DN1 VAR_031323 p.Ser1665Pro Polymorphism rs28381983 - C2orf40 Q9H1Z8 VAR_050962 p.Ala52Thr Polymorphism rs10187689 - C2orf42 Q9NWW7 VAR_050712 p.Gln314Pro Polymorphism rs3213941 - C2orf48 Q96LS8 VAR_029619 p.Pro90Leu Polymorphism rs13406078 - C2orf48 Q96LS8 VAR_050713 p.Trp119Ser Polymorphism rs7423163 - C2orf49 Q9BVC5 VAR_029759 p.Gly185Asp Polymorphism rs28930676 - C2orf70 A6NJV1 VAR_042998 p.Gln66His Polymorphism rs13002673 - C2orf70 A6NJV1 VAR_054056 p.Gln177Leu Polymorphism rs2272466 - C2orf73 Q8N5S3 VAR_042973 p.Pro254Leu Polymorphism rs2280718 - C2orf73 Q8N5S3 VAR_042974 p.Arg275Thr Polymorphism rs13184 - C2orf73 Q8N5S3 VAR_061571 p.His29Asn Polymorphism rs55714450 - C2orf76 Q3KRA6 VAR_039931 p.Ile46Val Polymorphism rs1132267 - C2orf76 Q3KRA6 VAR_039932 p.Lys116Arg Polymorphism rs1052500 - C2orf80 Q0P641 VAR_050717 p.Arg82His Polymorphism rs11898181 - C2orf80 Q0P641 VAR_050718 p.Cys130Arg Polymorphism rs6435421 - C2orf80 Q0P641 VAR_050719 p.Ser152Gly Polymorphism rs10804166 - C2orf83 Q53S99 VAR_039201 p.Glu104Gln Polymorphism rs2138402 - C2orf83 Q53S99 VAR_061865 p.Ser45Leu Polymorphism rs28739019 - C2orf88 Q9BSF0 VAR_046151 p.Thr56Ile Polymorphism rs6753459 - C2 P06681 VAR_008544 p.Cys131Tyr Disease rs760744400 Complement component 2 deficiency (C2D) [MIM:217000] C2 P06681 VAR_008545 p.Ser209Phe Disease rs28934590 Complement component 2 deficiency (C2D) [MIM:217000] C2 P06681 VAR_008546 p.Gly464Arg Disease rs151340617 Complement component 2 deficiency (C2D) [MIM:217000] C2 P06681 VAR_011772 p.Phe533Leu Polymorphism rs1042664 - C2 P06681 VAR_019158 p.Glu318Asp Polymorphism rs9332739 - C2 P06681 VAR_019159 p.Arg734Cys Polymorphism rs4151648 - C3AR1 Q16581 VAR_019164 p.Val136Ala Polymorphism rs11567806 - C3orf18 Q9UK00 VAR_025720 p.Ala8Asp Polymorphism rs386598 - C3orf18 Q9UK00 VAR_025721 p.Ala162Val Polymorphism rs1034405 - C3orf20 Q8ND61 VAR_025722 p.Ala176Thr Polymorphism rs17040196 - C3orf20 Q8ND61 VAR_027886 p.Gly42Asp Polymorphism rs17040154 - C3orf20 Q8ND61 VAR_027887 p.Asp65Asn Polymorphism rs9821143 - C3orf20 Q8ND61 VAR_027888 p.Ser230Tyr Polymorphism rs17852774 - C3orf20 Q8ND61 VAR_027889 p.Ala298Thr Polymorphism rs17040196 - C3orf20 Q8ND61 VAR_027890 p.Ile407Val Polymorphism rs6765537 - C3orf20 Q8ND61 VAR_027891 p.Leu422Val Polymorphism rs6790129 - C3orf20 Q8ND61 VAR_056770 p.Gln205Arg Polymorphism rs34230332 - C3orf20 Q8ND61 VAR_056771 p.Ala689Val Polymorphism rs34045813 - C3orf30 Q96M34 VAR_028841 p.Asn45Thr Polymorphism rs4687838 - C3orf30 Q96M34 VAR_028842 p.Asp99Gly Polymorphism rs11550908 - C3orf30 Q96M34 VAR_028843 p.Gln193His Polymorphism rs9859242 - C3orf30 Q96M34 VAR_028844 p.Gly312Ser Polymorphism rs4077930 - C3orf30 Q96M34 VAR_028845 p.Asp473Glu Polymorphism rs9289122 - C3orf30 Q96M34 VAR_061574 p.Ser447Leu Polymorphism rs56317615 - C3orf33 Q6P1S2 VAR_028846 p.Ala47Thr Polymorphism rs9853408 - C3orf33 Q6P1S2 VAR_028847 p.Ser160Asn Polymorphism rs358733 - C3orf62 Q6ZUJ4 VAR_050724 p.Glu110Lys Polymorphism rs13077498 - C3orf67 Q6ZVT6 VAR_056772 p.Ser158Arg Polymorphism rs13324082 - C3orf67 Q6ZVT6 VAR_056773 p.Asp304Glu Polymorphism rs35778488 - C3orf67 Q6ZVT6 VAR_061575 p.Val387Met Polymorphism rs34631714 - C3orf67 Q6ZVT6 VAR_061576 p.Ser404Asn Polymorphism rs34322986 - C3 P01024 VAR_001983 p.Arg102Gly Polymorphism rs2230199 - C3 P01024 VAR_001984 p.Pro314Leu Polymorphism rs1047286 - C3 P01024 VAR_001985 p.Asp549Asn Disease rs1449441916Complement component 3 deficiency (C3D) [MIM:613779] C3 P01024 VAR_019206 p.Arg863Lys Polymorphism rs11569472 - C3 P01024 VAR_019207 p.Gly1224Asp Polymorphism rs11569534 - C3 P01024 VAR_019208 p.Ile1367Thr Polymorphism rs11569541 - C3 P01024 VAR_020262 p.Glu469Asp Polymorphism rs11569422 - C3 P01024 VAR_029326 p.Ser1619Arg Polymorphism rs2230210 - C3 P01024 VAR_029792 p.Gln1521Arg Polymorphism rs7256789 - C3 P01024 VAR_029793 p.His1601Asn Polymorphism rs1803225 - C3 P01024 VAR_063213 p.Arg592Gln Disease rs121909583 Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063214 p.Arg592Trp Disease rs771353792 Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063215 p.Arg735Trp Disease rs117793540 Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063216 p.Ala1094Val Disease rs121909584 Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063217 p.Asp1115Asn Disease rs121909585 Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063218 p.Cys1158Trp Disease - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063219 p.Gln1161Lys Disease - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063220 p.His1464Asp Disease - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063654 p.Phe603Val Disease - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3 P01024 VAR_063655 p.Arg1042Leu Disease - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3 P01024 VAR_070941 p.Lys155Gln Disease rs147859257 Macular degeneration, age-related, 9 (ARMD9) [MIM:611378] C3P1 Q6ZMU1 VAR_044412 p.Gln172Arg Polymorphism rs8113341 - C3P1 Q6ZMU1 VAR_044413 p.Asp230Asn Polymorphism rs10403787 - C3P1 Q6ZMU1 VAR_044414 p.Asp251Gly Polymorphism rs1993466 - C3P1 Q6ZMU1 VAR_044415 p.Leu262Arg Polymorphism rs4552116 - C4A P0C0L4 VAR_001987 p.Arg477Trp Polymorphism - - C4A P0C0L4 VAR_001988 p.Pro726Leu Polymorphism rs1215093373- C4A P0C0L4 VAR_001992 p.Thr1201Ser Polymorphism - - C4A P0C0L4 VAR_001993 p.Val1207Ala Polymorphism rs28357075 - C4A P0C0L4 VAR_001994 p.Leu1210Arg Polymorphism rs28357076 - C4A P0C0L4 VAR_001995 p.Ser1286Ala Polymorphism rs201016130 - C4A P0C0L4 VAR_019778 p.Ser347Tyr Polymorphism rs392610 - C4A P0C0L4 VAR_019779 p.Asp727Asn Polymorphism - - C4A P0C0L4 VAR_019780 p.Ala907Thr Polymorphism rs429329 - C4A P0C0L4 VAR_069154 p.Leu141Val Polymorphism rs9296005 - C4A P0C0L4 VAR_069155 p.Val418Ala Polymorphism - - C4A P0C0L4 VAR_069156 p.His549Pro Polymorphism rs2229405 - C4A P0C0L4 VAR_069158 p.Asp1073Gly Polymorphism rs147162052 - C4A P0C0L4 VAR_069159 p.Asn1176Ser Polymorphism rs17874654 - C4B P0C0L5 VAR_023729 p.Ser347Tyr Polymorphism rs139889867 - C4B P0C0L5 VAR_023730 p.Thr907Ala Polymorphism rs796750528 - C4B P0C0L5 VAR_023731 p.Gly1073Asp Polymorphism rs2258218 - C4B P0C0L5 VAR_023732 p.Ser1176Asn Polymorphism rs2746414 - C4B P0C0L5 VAR_023734 p.Ala1207Val Polymorphism rs2229403 - C4B P0C0L5 VAR_023735 p.Arg1210Leu Polymorphism rs2229409 - C4B P0C0L5 VAR_069160 p.Pro478Leu Polymorphism - - C4B P0C0L5 VAR_069161 p.Ile1317Phe Polymorphism rs2023616 - C4BPA P04003 VAR_001978 p.Tyr357His Polymorphism - - C4BPA P04003 VAR_012038 p.Trp473Leu Polymorphism rs1801341 - C4BPA P04003 VAR_024420 p.Ile300Thr Polymorphism rs4844573 - C4BPA P04003 VAR_048815 p.Ala60Val Polymorphism rs17020956 - C4BPA P04003 VAR_061123 p.Pro4Gln Polymorphism rs55867570 - C4BPA P04003 VAR_061124 p.Arg240His Polymorphism rs45574833 - C4BPB P20851 VAR_012039 p.Pro198Ser Polymorphism rs1803226 - C4BPB P20851 VAR_038734 p.Lys102Gln Polymorphism rs56258224 - C4orf17 Q53FE4 VAR_028110 p.Gly64Glu Polymorphism rs13143848 - C4orf17 Q53FE4 VAR_028111 p.Ser85Pro Polymorphism rs13119384 - C4orf17 Q53FE4 VAR_028112 p.Glu91Lys Polymorphism rs17029087 - C4orf19 Q8IY42 VAR_032118 p.Ala151Thr Polymorphism rs2973275 - C4orf19 Q8IY42 VAR_032119 p.Glu274Gly Polymorphism rs3733500 - C4orf19 Q8IY42 VAR_050770 p.Asp39Glu Polymorphism rs6852908 - C4orf33 Q8N1A6 VAR_033334 p.Arg40Met Polymorphism rs35199409 - C4orf33 Q8N1A6 VAR_033335 p.Ser104Leu Polymorphism rs2271570 - C4orf33 Q8N1A6 VAR_033336 p.Met107Val Polymorphism rs337277 - C4orf33 Q8N1A6 VAR_033337 p.His166Arg Polymorphism rs17351999 - C4orf36 Q96KX1 VAR_029755 p.Ser36Tyr Polymorphism rs1550931 - C4orf36 Q96KX1 VAR_056784 p.Ser18Asn Polymorphism rs11938345 - C4orf3 Q8WVX3 VAR_039911 p.Arg17Gln Polymorphism rs17851522 - C4orf3 Q8WVX3 VAR_039912 p.Pro32His Polymorphism rs11544530 - C4orf45 Q96LM5 VAR_039901 p.Ala46Val Polymorphism rs17037864 - C4orf45 Q96LM5 VAR_039902 p.Ser75Gly Polymorphism rs662473 - C4orf45 Q96LM5 VAR_039903 p.Tyr84Cys Polymorphism rs17037858 - C4orf45 Q96LM5 VAR_039904 p.Gly93Glu Polymorphism rs619128 - C4orf45 Q96LM5 VAR_039905 p.Arg134His Polymorphism rs10517695 - C4orf50 Q6ZRC1 VAR_042680 p.Arg86Trp Polymorphism rs16837960 - C4orf50 Q6ZRC1 VAR_042681 p.Ala150Pro Unclassified - A breast cancer sample C4orf50 Q6ZRC1 VAR_042682 p.Ile177Val Polymorphism rs6839295 - C4orf50 Q6ZRC1 VAR_042683 p.Val199Met Polymorphism rs7695618 - C4orf54 D6RIA3 VAR_080344 p.Gly595Arg Unclassified rs1034287647- C4orf54 D6RIA3 VAR_080345 p.Phe1415Ser Unclassified rs555103041 - C4orf54 D6RIA3 VAR_080346 p.Thr1632Ile Unclassified - - C5AR1 P21730 VAR_049377 p.Asp2Asn Polymorphism rs4467185 - C5AR1 P21730 VAR_049378 p.Lys279Asn Polymorphism rs11880097 - C5AR2 Q9P296 VAR_068748 p.Pro233Leu Polymorphism rs149572881 - C5AR2 Q9P296 VAR_068749 p.Ser323Ile Polymorphism rs150599989 - C5orf22 Q49AR2 VAR_035149 p.Thr235Pro Polymorphism rs17410000 - C5orf22 Q49AR2 VAR_035150 p.Asp405Glu Polymorphism rs16901277 - C5orf34 Q96MH7 VAR_035618 p.Ser266Arg Unclassified - A breast cancer sample C5orf34 Q96MH7 VAR_061589 p.Thr32Ser Polymorphism rs6872851 - C5orf46 Q6UWT4 VAR_056787 p.Phe18Ile Polymorphism rs7722926 - C5orf49 A4QMS7 VAR_043546 p.Gln68His Polymorphism rs6883562 - C5orf49 A4QMS7 VAR_043547 p.Glu87Lys Polymorphism rs16879215 - C5orf49 A4QMS7 VAR_043548 p.Pro139Ser Polymorphism rs326181 - C5orf51 A6NDU8 VAR_044032 p.Gln20His Polymorphism rs12520325 - C5orf60 A6NFR6 VAR_044323 p.Arg55Cys Polymorphism rs1319931 - C5orf60 A6NFR6 VAR_044324 p.Leu56Pro Polymorphism rs13168357 - C5orf64 Q2M2E5 VAR_043940 p.Ala57Thr Polymorphism rs16893687 - C5orf64 Q2M2E5 VAR_043941 p.Arg101Trp Polymorphism rs436696 - C5 P01031 VAR_001996 p.Phe518Ser Polymorphism - - C5 P01031 VAR_014574 p.Val802Ile Polymorphism rs17611 - C5 P01031 VAR_014575 p.Met1053Leu Polymorphism rs17609 - C5 P01031 VAR_014576 p.Ser1310Asn Polymorphism rs17610 - C5 P01031 VAR_014577 p.Glu1437Asp Polymorphism rs17612 - C5 P01031 VAR_023946 p.Thr389Ile Polymorphism - - C5 P01031 VAR_038735 p.Val145Ile Polymorphism rs17216529 - C5 P01031 VAR_038736 p.Arg449Gly Polymorphism rs2230213 - C5 P01031 VAR_038737 p.Arg928Gln Polymorphism rs41309892 - C5 P01031 VAR_038738 p.Gly933Val Polymorphism rs41309902 - C5 P01031 VAR_038739 p.Ile1033Thr Polymorphism rs41311881 - C5 P01031 VAR_038740 p.Asp1037Asn Polymorphism rs41311883 - C5 P01031 VAR_038741 p.Gln1043Lys Polymorphism rs41311887 - C5 P01031 VAR_048822 p.Leu354Met Polymorphism rs34552775 - C5 P01031 VAR_048823 p.Asp966Tyr Polymorphism rs2230212 - C5 P01031 VAR_048824 p.Val1365Ala Polymorphism rs16910245 - C5 P01031 VAR_071067 p.Arg885Cys Polymorphism rs373359894 - C5 P01031 VAR_071068 p.Arg885His Polymorphism rs56040400 - C6orf118 Q5T5N4 VAR_022887 p.Ile256Met Polymorphism rs510579 - C6orf118 Q5T5N4 VAR_022888 p.Val363Leu Polymorphism rs9459350 - C6orf118 Q5T5N4 VAR_050807 p.Arg166Leu Polymorphism rs36007498 - C6orf118 Q5T5N4 VAR_050808 p.Gly271Glu Polymorphism rs17852379 - C6orf118 Q5T5N4 VAR_050809 p.Thr301Met Polymorphism rs540751 - C6orf118 Q5T5N4 VAR_050810 p.Arg385Gln Polymorphism rs17856754 - C6orf132 Q5T0Z8 VAR_056799 p.Lys4Asn Polymorphism rs9688934 - C6orf141 Q5SZD1 VAR_022939 p.Gln137Glu Polymorphism rs6919674 - C6orf141 Q5SZD1 VAR_030643 p.Pro235Leu Polymorphism rs9473588 - C6orf15 Q6UXA7 VAR_022907 p.Leu40Phe Polymorphism rs2233974 - C6orf15 Q6UXA7 VAR_022908 p.Asn43Asp Polymorphism rs2233975 - C6orf15 Q6UXA7 VAR_022909 p.Ala83Pro Polymorphism rs1265053 - C6orf15 Q6UXA7 VAR_022910 p.Lys165Glu Polymorphism rs1265054 - C6orf15 Q6UXA7 VAR_028732 p.Val81Ala Polymorphism rs2233977 - C6orf15 Q6UXA7 VAR_028733 p.Ala145Pro Polymorphism rs2233978 - C6orf15 Q6UXA7 VAR_028734 p.Gly291Asp Polymorphism rs2233984 - C6orf15 Q6UXA7 VAR_050801 p.Gly48Arg Polymorphism rs2233976 - C6orf15 Q6UXA7 VAR_050802 p.Met232Ile Polymorphism rs2233982 - C6orf15 Q6UXA7 VAR_054399 p.Val5Met Polymorphism rs2270191 - C6orf201 Q7Z4U5 VAR_056805 p.Arg20Pro Polymorphism rs619483 - C6orf201 Q7Z4U5 VAR_056806 p.Asp25Tyr Polymorphism rs9503910 - C6orf201 Q7Z4U5 VAR_064769 p.Asn117Lys Polymorphism rs643232 - C6orf222 P0C671 VAR_056808 p.Leu582Val Polymorphism rs743852 - C6orf223 Q8N319 VAR_050816 p.Lys48Glu Polymorphism rs2295333 - C6orf223 Q8N319 VAR_061592 p.Val107Met Polymorphism rs60336135 - C6orf47 O95873 VAR_022911 p.Gly68Arg Polymorphism rs3130617 - C6orf47 O95873 VAR_056797 p.Lys92Asn Polymorphism rs2242655 - C6orf52 Q5T4I8 VAR_033318 p.Ala13Asp Polymorphism rs7749306 - C6orf62 Q9GZU0 VAR_050803 p.Trp116Cys Polymorphism rs34238213 - C6orf62 Q9GZU0 VAR_050804 p.Arg140Ser Polymorphism rs35050510 - C6 P13671 VAR_006056 p.Ala119Glu Polymorphism rs1801033 - C6 P13671 VAR_027647 p.Lys397Glu Polymorphism rs6896011 - C6 P13671 VAR_027648 p.Ser470Phe Polymorphism rs10462014 - C7orf25 Q9BPX7 VAR_053848 p.Gly265Glu Polymorphism rs3735471 - C7orf26 Q96N11 VAR_061593 p.Arg245Cys Polymorphism rs35534502 - C7orf31 Q8N865 VAR_022781 p.Tyr82Cys Polymorphism rs2717858 - C7orf31 Q8N865 VAR_022782 p.Ala158Thr Polymorphism rs12535348 - C7orf31 Q8N865 VAR_022783 p.Thr187Ser Polymorphism rs2523072 - C7orf31 Q8N865 VAR_022784 p.His300Arg Polymorphism rs2285738 - C7orf31 Q8N865 VAR_056809 p.Glu13Lys Polymorphism rs11980216 - C7orf31 Q8N865 VAR_056810 p.Arg86Cys Polymorphism rs3213642 - C7orf31 Q8N865 VAR_056811 p.Pro238Gln Polymorphism rs11984293 - C7orf31 Q8N865 VAR_056812 p.Ala249Thr Polymorphism rs17150982 - C7orf31 Q8N865 VAR_060608 p.Pro143Gln Polymorphism rs17855102 - C7orf31 Q8N865 VAR_060609 p.Asn518Asp Polymorphism rs17857512 - C7orf43 Q8WVR3 VAR_050817 p.Arg295His Polymorphism rs2293477 - C7orf57 Q8NEG2 VAR_056813 p.Ala74Ser Polymorphism rs10951942 - C7orf69 Q9H7B7 VAR_043942 p.Lys32Glu Polymorphism rs9719534 - C7 P10643 VAR_012643 p.Arg220Gln Disease rs369349760 Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_012644 p.Gly379Arg Disease rs121964921 Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_012645 p.Arg521Ser Disease rs121964920 Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_012646 p.Glu682Gln Disease rs541873000 Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_012647 p.Arg687His Disease rs113187203 Complement component 7 deficiency (C7D) [MIM:610102] C7 P10643 VAR_022023 p.Lys420Gln Polymorphism rs3792646 - C7 P10643 VAR_033798 p.Ser389Thr Polymorphism rs1063499 - C7 P10643 VAR_033799 p.Thr587Pro Polymorphism rs13157656 - C7 P10643 VAR_050480 p.Cys128Arg Polymorphism rs2271708 - C8A P07357 VAR_011889 p.Gln93Lys Polymorphism rs652785 - C8A P07357 VAR_011890 p.Thr407Ile Polymorphism rs706479 - C8A P07357 VAR_011891 p.Arg485Leu Polymorphism rs1620075 - C8A P07357 VAR_011892 p.Glu561Gln Polymorphism rs1342440 - C8A P07357 VAR_033800 p.Asp458Asn Polymorphism rs17114555 - C8A P07357 VAR_033801 p.Pro575Leu Polymorphism rs17300936 - C8B P07358 VAR_012642 p.Arg117Gly Polymorphism rs1013579 - C8B P07358 VAR_027649 p.Glu108Lys Polymorphism rs12067507 - C8B P07358 VAR_027650 p.Pro261Leu Polymorphism rs12085435 - C8G P07360 VAR_014668 p.Arg69Gln Polymorphism rs17614 - C8G P07360 VAR_014669 p.His124Asn Polymorphism rs17613 - C8G P07360 VAR_044319 p.Asp118Gly Polymorphism rs7850844 - C8orf17 Q9NRJ1 VAR_042878 p.Thr19Met Polymorphism rs2233233 - C8orf17 Q9NRJ1 VAR_042879 p.Lys49Arg Polymorphism rs2233235 - C8orf17 Q9NRJ1 VAR_042880 p.Thr57Ile Polymorphism rs2233236 - C8orf31 Q8N9H6 VAR_033150 p.Leu39Pro Polymorphism rs11136300 - C8orf34 Q49A92 VAR_042690 p.Lys161Asn Unclassified - A colorectal cancer sample C8orf34 Q49A92 VAR_042691 p.Ala512Thr Polymorphism rs16935065 - C8orf37 Q96NL8 VAR_033683 p.Pro19Ala Polymorphism rs36096184 - C8orf37 Q96NL8 VAR_067305 p.Arg177Trp Disease rs387907136 Bardet-Biedl syndrome 21 (BBS21) [MIM:617406] C8orf37 Q96NL8 VAR_067305 p.Arg177Trp Disease rs387907136 Cone-rod dystrophy 16 (CORD16) [MIM:614500] C8orf37 Q96NL8 VAR_067306 p.Gln182Arg Disease rs387907137 Retinitis pigmentosa 64 (RP64) [MIM:614500] C8orf44 Q96CB5 VAR_030888 p.Gln131Arg Polymorphism rs1909534 - C8orf44 Q96CB5 VAR_030889 p.Phe148Ser Polymorphism rs1057463 - C8orf48 Q96LL4 VAR_063134 p.Ser28Phe Polymorphism rs13273355 - C8orf48 Q96LL4 VAR_063135 p.Leu285Met Polymorphism rs11203497 - C8orf49 Q96NF6 VAR_029849 p.Arg26Gly Polymorphism rs804285 - C8orf49 Q96NF6 VAR_029850 p.Ile81Val Polymorphism rs809204 - C8orf49 Q96NF6 VAR_029851 p.Arg95Gly Polymorphism rs13281294 - C8orf74 Q6P047 VAR_033684 p.Leu15Phe Polymorphism rs11250058 - C8orf74 Q6P047 VAR_061596 p.Ile222Val Polymorphism rs57041981 - C8orf86 Q6ZUL3 VAR_046186 p.Arg81His Polymorphism rs1378332 - C9orf129 Q5T035 VAR_061600 p.Arg191His Polymorphism rs36081907 - C9orf131 Q5VYM1 VAR_047239 p.Trp222Leu Polymorphism rs615474 - C9orf131 Q5VYM1 VAR_047240 p.Leu285Phe Polymorphism rs10117097 - C9orf131 Q5VYM1 VAR_047241 p.Leu437Val Polymorphism rs35523761 - C9orf131 Q5VYM1 VAR_047242 p.Ser623Thr Polymorphism rs2298312 - C9orf131 Q5VYM1 VAR_047243 p.Pro916Ser Polymorphism rs3739871 - C9orf139 Q6ZV77 VAR_031749 p.Lys168Glu Polymorphism rs12337910 - C9orf163 Q8N9P6 VAR_032526 p.Leu5Pro Polymorphism rs34376913 - C9orf43 Q8TAL5 VAR_061597 p.Asp252Gly Polymorphism rs41313331 - C9orf50 Q5SZB4 VAR_033220 p.Arg248Lys Polymorphism rs918165 - C9orf50 Q5SZB4 VAR_033221 p.Arg312Gln Polymorphism rs3213763 - C9orf50 Q5SZB4 VAR_033222 p.Arg381Gln Polymorphism rs2302779 - C9orf50 Q5SZB4 VAR_033223 p.Lys415Arg Polymorphism rs3087721 - C9orf66 Q5T8R8 VAR_050824 p.Leu43Arg Polymorphism rs636922 - C9orf66 Q5T8R8 VAR_050825 p.Arg178Gln Polymorphism rs2236547 - C9orf66 Q5T8R8 VAR_050826 p.Arg231Gly Polymorphism rs540473 - C9orf72 Q96LT7 VAR_050827 p.Asn207Ser Polymorphism rs17769294 - C9orf78 Q9NZ63 VAR_050828 p.Gln70His Polymorphism rs1237745 - C9 P02748 VAR_012648 p.Cys119Gly Disease rs121909593 Complement component 9 deficiency (C9D) [MIM:613825] C9 P02748 VAR_022024 p.Arg5Trp Polymorphism rs700233 - C9 P02748 VAR_027651 p.Ile203Val Polymorphism rs13361416 - C9 P02748 VAR_033802 p.Thr279Ser Polymorphism rs34625111 - C9 P02748 VAR_050481 p.Asp127Tyr Polymorphism rs696763 - C9 P02748 VAR_061503 p.Ser427Thr Polymorphism rs34421659 - C9 P02748 VAR_070940 p.Pro167Ser Disease rs34882957 Macular degeneration, age-related, 15 (ARMD15) [MIM:615591] CA12 O43570 VAR_065292 p.Glu143Lys Disease rs267606694 Hyperchlorhidrosis, isolated (HYCHL) [MIM:143860] CA12 O43570 VAR_081182 p.His121Gln Disease - Hyperchlorhidrosis, isolated (HYCHL) [MIM:143860] CA13 Q8N1Q1 VAR_059207 p.Asn68Ser Polymorphism rs4740046 - CA1 P00915 VAR_001378 p.His68Arg Polymorphism rs990757234 - CA1 P00915 VAR_001379 p.Gly254Arg Polymorphism rs121909577 - CA1 P00915 VAR_048679 p.Ala143Val Polymorphism rs7821248 - CA2 P00918 VAR_001380 p.Lys18Glu Polymorphism rs118203931 - CA2 P00918 VAR_001381 p.Gln92Pro Disease rs1304160279Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] CA2 P00918 VAR_001382 p.His107Tyr Disease rs118203933 Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] CA2 P00918 VAR_001383 p.Pro236His Polymorphism rs118203932 - CA2 P00918 VAR_001384 p.Asn252Asp Polymorphism rs2228063 - CA2 P00918 VAR_021009 p.His94Tyr Disease - Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] CA2 P00918 VAR_021010 p.Gly144Arg Disease - Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] CA3 P07451 VAR_016180 p.Val31Ile Polymorphism rs20571 - CA4 P22748 VAR_024749 p.Arg14Trp Disease rs104894559 Retinitis pigmentosa 17 (RP17) [MIM:600852] CA4 P22748 VAR_024750 p.Arg219Ser Disease rs121434551 Retinitis pigmentosa 17 (RP17) [MIM:600852] CA4 P22748 VAR_048680 p.Val237Leu Polymorphism rs2229178 - CA4 P22748 VAR_071430 p.Ala12Thr Disease rs1245199379Retinitis pigmentosa 17 (RP17) [MIM:600852] CA4 P22748 VAR_071431 p.Arg69His Disease rs121434552 Retinitis pigmentosa 17 (RP17) [MIM:600852] CA4 P22748 VAR_071432 p.Asn177Lys Polymorphism rs185942554 - CA5A P35218 VAR_071188 p.Ser233Pro Disease rs587777316 Hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD) [MIM:615751] CA6 P23280 VAR_028268 p.Thr55Met Polymorphism rs2274327 - CA6 P23280 VAR_028269 p.Met68Leu Polymorphism rs2274328 - CA6 P23280 VAR_028270 p.Gly70Ala Polymorphism rs2274329 - CA6 P23280 VAR_028271 p.Ser90Gly Polymorphism rs2274333 - CA6 P23280 VAR_033712 p.Gln37Leu Polymorphism rs34265054 - CA6 P23280 VAR_061093 p.Arg58Trp Polymorphism rs58800854 - CA8 P35219 VAR_063634 p.Ser100Pro Disease rs267606695 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3) [MIM:613227] CA9 Q16790 VAR_010787 p.Val33Met Polymorphism rs2071676 - CA9 Q16790 VAR_020049 p.Gln326Arg Polymorphism rs3829078 - CAAP1 Q9H8G2 VAR_056818 p.Val233Met Polymorphism rs12342214 - CABIN1 Q9Y6J0 VAR_052607 p.Ala56Thr Polymorphism rs5760185 - CABIN1 Q9Y6J0 VAR_052608 p.Asp225Asn Polymorphism rs17004823 - CABIN1 Q9Y6J0 VAR_052609 p.Ser517Arg Polymorphism rs9624393 - CABIN1 Q9Y6J0 VAR_052610 p.Arg660Ser Polymorphism rs9624395 - CABIN1 Q9Y6J0 VAR_052611 p.Arg853Gln Polymorphism rs17854874 - CABIN1 Q9Y6J0 VAR_052612 p.Gln921Glu Polymorphism rs12166151 - CABLES2 Q9BTV7 VAR_026532 p.Thr428Lys Polymorphism rs6089219 - CABP2 Q9NPB3 VAR_063087 p.Arg94Gln Polymorphism rs2276118 - CABP4 P57796 VAR_029375 p.Arg124Cys Disease rs121917828 Cone-rod synaptic disorder, congenital non-progressive (CRSD) [MIM:610427] CABP5 Q9NP86 VAR_020020 p.Val128Ala Polymorphism rs3745746 - CABP5 Q9NP86 VAR_033695 p.Thr65Arg Polymorphism rs34862923 - CABP5 Q9NP86 VAR_048633 p.Leu80Pro Polymorphism rs8105198 - CABP5 Q9NP86 VAR_048634 p.Glu140Lys Polymorphism rs34681062 - CABP5 Q9NP86 VAR_048635 p.Ile147Ser Polymorphism rs10425606 - CABS1 Q96KC9 VAR_043924 p.Lys76Gln Polymorphism rs3796706 - CABS1 Q96KC9 VAR_043925 p.Thr211Ile Polymorphism rs1351419 - CABS1 Q96KC9 VAR_043926 p.Trp298Gly Polymorphism rs2291182 - CABYR O75952 VAR_023818 p.Ser490Ala Polymorphism rs1049683 - CABYR O75952 VAR_030040 p.Thr74Met Polymorphism rs3786417 - CABYR O75952 VAR_030041 p.Lys448Arg Polymorphism rs1049682 - CABYR O75952 VAR_050709 p.Ile186Val Polymorphism rs35118855 - CACFD1 Q9UGQ2 VAR_069103 p.Ile58Met Polymorphism rs3124765 - CACHD1 Q5VU97 VAR_035052 p.Met414Thr Polymorphism rs6588100 - CACNA1A O00555 VAR_001491 p.Arg192Gln Disease rs121908211 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_001492 p.Thr665Met Disease rs121908212 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_001492 p.Thr665Met Disease rs121908212 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_001493 p.Val713Ala Disease rs121908213 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_001494 p.Ile1809Leu Disease rs121908214 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_014456 p.Ala21Val Polymorphism rs15999 - CACNA1A O00555 VAR_014458 p.Pro913Ser Polymorphism rs16020 - CACNA1A O00555 VAR_014459 p.Glu917Asp Polymorphism rs16022 - CACNA1A O00555 VAR_014461 p.Glu1014Lys Polymorphism rs16024 - CACNA1A O00555 VAR_014462 p.Gly1104Ser Polymorphism rs16027 - CACNA1A O00555 VAR_014463 p.Pro2395Ser Polymorphism rs16056 - CACNA1A O00555 VAR_043820 p.Arg195Lys Disease rs121908222 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043821 p.Ser218Leu Disease rs121908225 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043822 p.His253Tyr Disease rs121908228 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043823 p.Cys256Arg Disease rs121908231 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043824 p.Cys287Tyr Disease rs121908236 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043825 p.Gly293Arg Disease rs121908215 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043825 p.Gly293Arg Disease rs121908215 Spinocerebellar ataxia 6 (SCA6) [MIM:183086] CACNA1A O00555 VAR_043826 p.Arg582Gln Disease rs121908217 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043826 p.Arg582Gln Disease rs121908217 Spinocerebellar ataxia 6 (SCA6) [MIM:183086] CACNA1A O00555 VAR_043827 p.Asp714Glu Disease rs121908218 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043828 p.Glu992Val Polymorphism rs16023 - CACNA1A O00555 VAR_043829 p.Lys1334Glu Disease rs121908223 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043830 p.Arg1345Gln Disease rs121908230 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043831 p.Tyr1383Cys Disease rs121908219 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043832 p.Phe1402Cys Disease rs121908227 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043833 p.Val1455Leu Disease rs121908237 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043834 p.Gly1481Arg Disease rs121908232 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043835 p.Phe1489Ser Disease rs121908233 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043836 p.Val1492Ile Disease rs121908234 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043837 p.Arg1660His Disease rs121908216 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043838 p.Arg1666Trp Disease rs121908220 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043839 p.Trp1682Arg Disease rs121908221 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_043840 p.His1735Leu Disease rs121908229 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043841 p.Glu1755Lys Disease rs121908226 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_043842 p.Arg2134Cys Disease rs121908235 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_059221 p.Glu731Ala Polymorphism rs16019 - CACNA1A O00555 VAR_059222 p.Pro1172Leu Polymorphism rs16028 - CACNA1A O00555 VAR_063683 p.Tyr248Cys Disease rs121908238 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063684 p.Leu389Phe Disease rs121908239 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063685 p.Ala405Thr Disease rs121908245 Spinocerebellar ataxia 6 (SCA6) [MIM:183086] CACNA1A O00555 VAR_063686 p.Ala453Thr Polymorphism rs41276886 - CACNA1A O00555 VAR_063687 p.Thr500Met Disease rs121908240 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063688 p.Gly637Asp Disease rs121908246 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063689 p.Met797Thr Disease rs121908241 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063690 p.Pro896Arg Disease rs121908242 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063691 p.Arg1663Gln Disease rs121908247 Spinocerebellar ataxia 6 (SCA6) [MIM:183086] CACNA1A O00555 VAR_063692 p.Arg1678Cys Disease rs121908243 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063693 p.Cys1868Arg Disease rs121908244 Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_063706 p.Val1694Ile Disease rs121908224 Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] CACNA1A O00555 VAR_067342 p.Glu388Lys Disease - Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A O00555 VAR_077071 p.Glu101Gln Disease rs886037944 Epileptic encephalopathy, early infantile, 42 (EIEE42) [MIM:617106] CACNA1A O00555 VAR_077072 p.Ala712Thr Disease rs886037945 Epileptic encephalopathy, early infantile, 42 (EIEE42) [MIM:617106] CACNA1A O00555 VAR_077073 p.Trp1435Arg Disease - Epileptic encephalopathy, early infantile, 42 (EIEE42) [MIM:617106] CACNA1A O00555 VAR_077075 p.Ala1507Ser Disease rs886037946 Epileptic encephalopathy, early infantile, 42 (EIEE42) [MIM:617106] CACNA1A O00555 VAR_079826 p.Arg1672Pro Polymorphism rs1057519429- CACNA1A O00555 VAR_080738 p.Asp1337Tyr Disease - Spinocerebellar ataxia 6 (SCA6) [MIM:183086] CACNA1B Q00975 VAR_048741 p.Asn167Lys Polymorphism rs4422842 - CACNA1B Q00975 VAR_048742 p.Glu1436Lys Polymorphism rs1322525317- CACNA1B Q00975 VAR_048743 p.Glu1500Lys Polymorphism rs12377346 - CACNA1B Q00975 VAR_061100 p.Ala862Ser Polymorphism rs7873074 - CACNA1B Q00975 VAR_061101 p.Thr996Ala Polymorphism rs11137342 - CACNA1B Q00975 VAR_073432 p.Arg1389His Disease rs184841813 Dystonia 23 (DYT23) [MIM:614860] CACNA1C Q13936 VAR_001495 p.Ala752Thr Polymorphism - - CACNA1C Q13936 VAR_001496 p.Ala2169Thr Polymorphism - - CACNA1C Q13936 VAR_026741 p.Gly402Ser Disease - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_026742 p.Gly406Arg Disease - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_044039 p.Ala39Val Unclassified - Brugada syndrome 3 (BRGDA3) [MIM:611875] CACNA1C Q13936 VAR_044040 p.Gly490Arg Unclassified - Brugada syndrome 3 (BRGDA3) [MIM:611875] CACNA1C Q13936 VAR_045987 p.Gln84Arg Polymorphism rs1051345 - CACNA1C Q13936 VAR_045988 p.Ile391Leu Polymorphism rs1051356 - CACNA1C Q13936 VAR_059223 p.Pro1868Leu Polymorphism rs10848683 - CACNA1C Q13936 VAR_059224 p.Met1869Val Polymorphism rs10774053 - CACNA1C Q13936 VAR_061102 p.Lys1893Arg Polymorphism rs10774054 - CACNA1C Q13936 VAR_064700 p.Ser878Arg Unclassified - - CACNA1C Q13936 VAR_072381 p.Ile1186Thr Disease - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075148 p.Ala28Thr Unclassified - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075149 p.Gly37Arg Polymorphism - - CACNA1C Q13936 VAR_075150 p.Ile304Thr Polymorphism - - CACNA1C Q13936 VAR_075151 p.Pro381Ser Unclassified - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075152 p.Met456Ile Unclassified - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075153 p.Glu477Lys Polymorphism - - CACNA1C Q13936 VAR_075154 p.Arg518Cys Disease - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075155 p.Arg518His Disease - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075156 p.Ala582Asp Disease - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075157 p.Pro817Ser Polymorphism - - CACNA1C Q13936 VAR_075158 p.Arg858His Disease - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075159 p.Arg860Gly Disease - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075160 p.Ile1186Val Disease - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075161 p.Ala1365Thr Polymorphism - - CACNA1C Q13936 VAR_075162 p.Ile1523Met Disease - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075163 p.Glu1544Lys Disease - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075164 p.Val1755Ile Polymorphism - - CACNA1C Q13936 VAR_075165 p.Ala1765Gly Polymorphism - - CACNA1C Q13936 VAR_075166 p.Asp1787Asn Polymorphism - - CACNA1C Q13936 VAR_075167 p.Thr1800Ile Unclassified - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075168 p.Gly1831Cys Unclassified - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075169 p.Thr1835Met Polymorphism - - CACNA1C Q13936 VAR_075170 p.Gly1843Ala Polymorphism - - CACNA1C Q13936 VAR_075171 p.Glu1948Lys Polymorphism - - CACNA1C Q13936 VAR_075172 p.Thr1953Met Unclassified - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075173 p.Arg1972Cys Polymorphism - - CACNA1C Q13936 VAR_075174 p.Arg2056Gln Polymorphism - - CACNA1C Q13936 VAR_075175 p.Thr2081Asn Polymorphism - - CACNA1C Q13936 VAR_075176 p.Val2097Ile Unclassified - Timothy syndrome (TS) [MIM:601005] CACNA1C Q13936 VAR_075177 p.Ala2122Gly Polymorphism - - CACNA1C Q13936 VAR_075178 p.Asn2174Ser Polymorphism - - CACNA1C Q13936 VAR_076415 p.Ala2091Ser Unclassified - - CACNA1C Q13936 VAR_078701 p.Arg1159His Unclassified - - CACNA1D Q01668 VAR_061103 p.Asp2097Asn Polymorphism rs41276455 - CACNA1D Q01668 VAR_070868 p.Gly403Asp Disease - Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474] CACNA1D Q01668 VAR_070869 p.Ile750Met Disease rs41276445 Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474] CACNA1D Q01668 VAR_079531 p.Val401Leu Disease - - CACNA1D Q01668 VAR_079532 p.Gly407Arg Disease - - CACNA1D Q01668 VAR_079533 p.Ala749Gly Disease - - CACNA1E Q15878 VAR_031912 p.Asp859Glu Polymorphism rs35737760 - CACNA1E Q15878 VAR_046996 p.Ala1955Thr Polymorphism rs704326 - CACNA1F O60840 VAR_001504 p.Gly369Asp Disease rs122456133 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_001505 p.Arg519Gln Disease rs34162630 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_001506 p.Arg1060Trp Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_001507 p.Leu1375His Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_029376 p.Asn746Thr Polymorphism rs141159097 - CACNA1F O60840 VAR_030807 p.Pro14Leu Polymorphism rs6520408 - CACNA1F O60840 VAR_030808 p.Cys74Arg Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030809 p.Gly150Arg Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030810 p.Ser229Pro Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030811 p.Gly261Arg Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030812 p.Val635Ile Disease rs141010716 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030813 p.Gly674Asp Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030814 p.Phe753Cys Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030815 p.Ile756Thr Disease rs122456136 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030816 p.Leu860Pro Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030817 p.Ala928Asp Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030818 p.Gly1018Arg Disease rs1249437161Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030819 p.Leu1079Pro Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030820 p.Cys1499Arg Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030821 p.Pro1500Arg Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_030822 p.Leu1508Pro Disease - Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1F O60840 VAR_031822 p.Ala1270Thr Polymorphism rs34308720 - CACNA1F O60840 VAR_054818 p.Arg1930His Polymorphism rs33910054 - CACNA1F O60840 VAR_055662 p.Ala1259Thr Polymorphism rs34308720 - CACNA1F O60840 VAR_071433 p.Gly603Arg Disease rs201654095 Aaland island eye disease (AIED) [MIM:300600] CACNA1F O60840 VAR_071433 p.Gly603Arg Disease rs201654095 Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071] CACNA1G O43497 VAR_076292 p.Arg1715His Disease rs755221106 Spinocerebellar ataxia 42 (SCA42) [MIM:616795] CACNA1G O43497 VAR_081177 p.Ala961Thr Disease - Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (SCA42ND) [MIM:618087] CACNA1G O43497 VAR_081178 p.Met1531Val Disease - Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (SCA42ND) [MIM:618087] CACNA1H O95180 VAR_033698 p.Glu1974Gly Polymorphism rs3751886 - CACNA1H O95180 VAR_045935 p.Phe161Leu Disease rs119454947 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045936 p.Glu282Lys Disease rs119454948 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045937 p.Met313Val Polymorphism rs36117280 - CACNA1H O95180 VAR_045938 p.Cys456Ser Disease - Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045939 p.Gly499Ser Disease rs560915333 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045940 p.Pro640Leu Polymorphism rs61734410 - CACNA1H O95180 VAR_045941 p.Pro648Leu Disease rs1288484976Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045942 p.Val664Ala Polymorphism rs4984636 - CACNA1H O95180 VAR_045943 p.Pro684Ser Polymorphism rs762185083 - CACNA1H O95180 VAR_045944 p.Arg744Gln Disease rs373764821 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045945 p.Ala748Val Disease rs770371468 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045946 p.Gly773Asp Disease rs267606697 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045947 p.Gly784Ser Disease rs779526640 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045948 p.Arg788Cys Polymorphism rs3751664 - CACNA1H O95180 VAR_045949 p.Val812Met Polymorphism rs28365119 - CACNA1H O95180 VAR_045950 p.Val831Met Disease rs119454949 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045951 p.Gly848Ser Disease rs374272094 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045952 p.Asp1463Asn Disease rs542245543 Epilepsy, childhood absence 6 (ECA6) [MIM:611942] CACNA1H O95180 VAR_045953 p.Arg2060His Polymorphism rs1054644 - CACNA1H O95180 VAR_045954 p.Arg2077His Polymorphism rs1054645 - CACNA1H O95180 VAR_045955 p.Pro2173Ser Polymorphism rs200675829 - CACNA1H O95180 VAR_061104 p.Arg1871Gln Polymorphism rs58124832 - CACNA1H O95180 VAR_066986 p.Pro618Leu Disease rs60734921 Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942] CACNA1H O95180 VAR_066987 p.Gly755Asp Disease rs142306293 Epilepsy, idiopathic generalized 6 (EIG6) [MIM:611942] CACNA1H O95180 VAR_077064 p.Ser196Leu Disease rs780596901 Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027] CACNA1H O95180 VAR_077065 p.Met1549Ile Disease - Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027] CACNA1H O95180 VAR_077066 p.Met1549Val Disease rs786205050 Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027] CACNA1H O95180 VAR_077067 p.Val1951Glu Disease rs746967306 - CACNA1H O95180 VAR_077068 p.Pro2083Leu Disease rs759924732 Hyperaldosteronism, familial, 4 (HALD4) [MIM:617027] CACNA1H O95180 VAR_078237 p.His516Tyr Unclassified rs1057519554- CACNA1H O95180 VAR_078702 p.Ser1970Cys Unclassified rs1267377730- CACNA1I Q9P0X4 VAR_013883 p.Ile1040Val Polymorphism rs136853 - CACNA1I Q9P0X4 VAR_013884 p.Gly1782Ala Polymorphism rs2294369 - CACNA1I Q9P0X4 VAR_020050 p.Gly1782Arg Polymorphism rs2294369 - CACNA1I Q9P0X4 VAR_048745 p.Thr1513Met Polymorphism rs8141262 - CACNA1S Q13698 VAR_001498 p.Leu458His Polymorphism rs12742169 - CACNA1S Q13698 VAR_001499 p.Arg528His Disease rs80338777 Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] CACNA1S Q13698 VAR_001500 p.Arg1086His Disease rs1800559 Malignant hyperthermia 5 (MHS5) [MIM:601887] CACNA1S Q13698 VAR_001501 p.Arg1239Gly Disease rs28930069 Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] CACNA1S Q13698 VAR_001502 p.Arg1239His Disease rs28930068 Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] CACNA1S Q13698 VAR_001503 p.Arg1539Cys Polymorphism rs3850625 - CACNA1S Q13698 VAR_046970 p.Ala69Gly Polymorphism rs12406479 - CACNA1S Q13698 VAR_046971 p.Arg1658His Polymorphism rs13374149 - CACNA1S Q13698 VAR_046972 p.Leu1800Ser Polymorphism rs12139527 - CACNA1S Q13698 VAR_046973 p.Glu1840Asp Polymorphism rs1042379 - CACNA1S Q13698 VAR_054953 p.Arg528Gly Disease rs80338778 Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] CACNA1S Q13698 VAR_054954 p.Arg900Ser Disease - Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] CACNA2D1 P54289 VAR_035047 p.Asp1057Ala Polymorphism rs35131433 - CACNA2D1 P54289 VAR_053960 p.Glu1019Asp Polymorphism rs9886043 - CACNA2D2 Q9NY47 VAR_035048 p.Ala138Val Polymorphism rs35497591 - CACNA2D2 Q9NY47 VAR_057782 p.Glu334Lys Polymorphism rs743855 - CACNA2D4 Q7Z3S7 VAR_035049 p.Ile327Val Polymorphism rs10735005 - CACNA2D4 Q7Z3S7 VAR_035050 p.Arg863His Polymorphism rs36077411 - CACNA2D4 Q7Z3S7 VAR_035051 p.Thr869Met Polymorphism rs35331095 - CACNB1 Q02641 VAR_036349 p.Pro339Leu Unclassified rs1266205915A colorectal cancer sample CACNB2 Q08289 VAR_036350 p.Ala99Gly Unclassified rs745502425 A colorectal cancer sample CACNB2 Q08289 VAR_044041 p.Ser535Leu Unclassified rs121917812 Brugada syndrome 4 (BRGDA4) [MIM:611876] CACNB3 P54284 VAR_024384 p.Arg423His Polymorphism rs2229954 - CACNB4 O00305 VAR_013669 p.Cys104Phe Disease rs1805031 Episodic ataxia 5 (EA5) [MIM:613855] CACNG1 Q06432 VAR_012063 p.Gly196Ser Polymorphism rs1799938 - CACNG2 Q9Y698 VAR_066599 p.Val143Leu Disease - Mental retardation, autosomal dominant 10 (MRD10) [MIM:614256] CACNG6 Q9BXT2 VAR_061540 p.Cys252Ser Polymorphism rs12980121 - CADM1 Q9BY67 VAR_061309 p.Asp285Glu Polymorphism rs45525440 - CADM3 Q8N126 VAR_059383 p.Arg162Trp Polymorphism rs3026987 - CADM4 Q8NFZ8 VAR_032906 p.Thr225Ala Polymorphism rs34246023 - CAD P27708 VAR_035897 p.Arg177Gln Unclassified rs374122292 A colorectal cancer sample CAD P27708 VAR_035898 p.Tyr735Cys Unclassified - A colorectal cancer sample CAD P27708 VAR_073955 p.Arg2024Gln Disease rs763410987 Epileptic encephalopathy, early infantile, 50 (EIEE50) [MIM:616457] CAD P27708 VAR_078289 p.Met33Arg Unclassified rs751610198 Epileptic encephalopathy, early infantile, 50 (EIEE50) [MIM:616457] CADPS2 Q86UW7 VAR_024786 p.Ala298Thr Polymorphism rs17144625 - CAGE1 Q8TC20 VAR_031200 p.Thr169Ile Polymorphism rs10223538 - CAGE1 Q8TC20 VAR_031201 p.Glu282Ala Polymorphism rs2876098 - CALCA P01258 VAR_014592 p.Asp57Asn Polymorphism rs5239 - CALCA P01258 VAR_014593 p.Ser76Arg Polymorphism rs5241 - CALCA P01258 VAR_025271 p.Gly2Arg Polymorphism rs34587547 - CALCA P01258 VAR_025272 p.Glu67Lys Polymorphism rs34164367 - CALCA P01258 VAR_025273 p.Ser123Thr Polymorphism rs34414857 - CALCA P01258 VAR_025274 p.Gln138Pro Polymorphism rs13306224 - CALCA P06881 VAR_048584 p.Asp57Asn Polymorphism rs5239 - CALCOCO1 Q9P1Z2 VAR_036881 p.Arg393Lys Polymorphism rs3741659 - CALCOCO2 Q13137 VAR_037489 p.Gly140Glu Polymorphism rs550510 - CALCOCO2 Q13137 VAR_037490 p.Gly227Arg Polymorphism rs2303016 - CALCOCO2 Q13137 VAR_037491 p.Val248Ala Polymorphism rs2303015 - CALCOCO2 Q13137 VAR_037492 p.Thr273Ala Polymorphism rs17849804 - CALCOCO2 Q13137 VAR_037493 p.Pro389Ala Polymorphism rs10278 - CALCRL Q16602 VAR_049453 p.Phe16Leu Polymorphism rs13391909 - CALCRL Q16602 VAR_049454 p.Arg274Ile Polymorphism rs34010553 - CALCRL Q16602 VAR_054822 p.Asn8Tyr Polymorphism rs698577 - CALCR P30988 VAR_003580 p.Pro481Leu Polymorphism rs1801197 - CALD1 Q05682 VAR_065254 p.His397Arg Polymorphism rs6973420 - CALHM1 Q8IU99 VAR_023095 p.Leu86Pro Polymorphism rs2986017 - CALHM2 Q9HA72 VAR_033924 p.Val194Met Polymorphism rs2232662 - CALHM2 Q9HA72 VAR_053084 p.Val136Gly Polymorphism rs2232660 - CALHM6 Q5R3K3 VAR_053085 p.Gly80Arg Polymorphism rs1057192 - CALHM6 Q5R3K3 VAR_053086 p.Glu293Lys Polymorphism rs11544160 - CALHM6 Q5R3K3 VAR_071081 p.Thr100Ala Polymorphism rs10784 - CALM1 P0DP23 VAR_069222 p.Asn54Ile Disease rs267607276 Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] CALM1 P0DP23 VAR_073275 p.Phe90Leu Disease rs730882253 Long QT syndrome 14 (LQT14) [MIM:616247] CALM1 P0DP23 VAR_073282 p.Phe142Leu Disease rs11551462 Long QT syndrome 14 (LQT14) [MIM:616247] CALM1 P0DP23 VAR_078263 p.Glu141Gly Disease - Long QT syndrome 14 (LQT14) [MIM:616247] CALM1 P0DP23 VAR_078541 p.Asn98Ser Disease rs398124647 Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] CALM1 P0DP23 VAR_078542 p.Asp130Gly Disease rs730882252 Long QT syndrome 14 (LQT14) [MIM:616247] CALM2 P0DP24 VAR_073276 p.Asp96Val Disease rs730882254 Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_073277 p.Asn98Ile Disease rs398124647 Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_073279 p.Asp132Glu Disease rs398124648 Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_073280 p.Asp134His Disease rs398124650 Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_073281 p.Gln136Pro Disease rs398124649 Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_078262 p.Asp130Val Disease - Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_078543 p.Asn98Ser Disease rs398124647 Long QT syndrome 15 (LQT15) [MIM:616249] CALM2 P0DP24 VAR_078544 p.Asp130Gly Disease rs730882252 Long QT syndrome 15 (LQT15) [MIM:616249] CALM3 P0DP25 VAR_078261 p.Ala103Val Disease - - CALML4 Q96GE6 VAR_048586 p.Arg28Cys Polymorphism rs3803381 - CALML4 Q96GE6 VAR_048587 p.Thr154Lys Polymorphism rs2280217 - CALML5 Q9NZT1 VAR_047545 p.Ser58Gly Polymorphism rs11546426 - CALML5 Q9NZT1 VAR_047546 p.Lys74Arg Polymorphism rs10904516 - CALML6 Q8TD86 VAR_048588 p.Trp60Arg Polymorphism rs28581776 - CALR3 Q96L12 VAR_027944 p.Leu8Phe Polymorphism rs11544148 - CALR3 Q96L12 VAR_027945 p.Asp248Gly Polymorphism rs10411092 - CALR3 Q96L12 VAR_027946 p.Val274Ile Polymorphism rs12459238 - CALR3 Q96L12 VAR_048589 p.Asp284Asn Polymorphism rs10404156 - CALR3 Q96L12 VAR_065476 p.Lys82Arg Disease rs142951029 Cardiomyopathy, familial hypertrophic 19 (CMH19) [MIM:613875] CALU O43852 VAR_022051 p.Arg4Gln Polymorphism rs2290228 - CAMK1D Q8IU85 VAR_040599 p.Ile66Met Polymorphism rs34194224 - CAMK1G Q96NX5 VAR_020530 p.Val329Ile Polymorphism rs11119315 - CAMK1G Q96NX5 VAR_040600 p.Glu259Gln Polymorphism rs35561962 - CAMK1G Q96NX5 VAR_040601 p.Ala443Thr Unclassified rs1228276529A breast infiltrating ductal carcinoma sample CAMK1 Q14012 VAR_040596 p.Pro217Ser Unclassified rs907102077 A metastatic melanoma sample CAMK1 Q14012 VAR_040597 p.Glu361Lys Polymorphism rs56033923 - CAMK2A Q9UQM7 VAR_080579 p.Phe98Ser Disease - Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080580 p.Glu109Asp Disease - Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080581 p.Ala112Val Unclassified - Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080582 p.Pro138Ala Unclassified - Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080583 p.Glu183Val Disease - Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080584 p.Pro212Leu Unclassified rs926027867 Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080585 p.Pro235Leu Unclassified rs864309606 Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080586 p.His282Arg Disease - Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_080587 p.Thr286Pro Disease - Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_081160 p.Pro212Gln Disease - Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A Q9UQM7 VAR_081161 p.His466Tyr Disease - Mental retardation, autosomal recessive 63 (MRT63) [MIM:618095] CAMK2B Q13554 VAR_045581 p.Pro489Leu Unclassified rs555460132 A colorectal adenocarcinoma sample CAMK2B Q13554 VAR_045582 p.Glu510Lys Polymorphism rs35452727 - CAMK2B Q13554 VAR_080589 p.Glu110Lys Disease - Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_080590 p.Pro139Leu Disease - Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_080591 p.Glu237Lys Disease - Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_080592 p.Lys301Glu Disease - Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_081162 p.Pro213Leu Disease - Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B Q13554 VAR_081163 p.Arg284Ser Disease - Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2D Q13557 VAR_028196 p.Gln463Glu Polymorphism rs1053668 - CAMK2D Q13557 VAR_040602 p.Asp167Glu Polymorphism rs35367671 - CAMK2D Q13557 VAR_040603 p.Thr493Ile Polymorphism rs35765784 - CAMK2G Q13555 VAR_042430 p.Ser36Pro Polymorphism rs17853266 - CAMK2G Q13555 VAR_069390 p.Arg292Pro Unclassified rs397514627 - CAMK4 Q16566 VAR_040604 p.Glu150Gly Unclassified - A lung adenocarcinoma sample CAMK4 Q16566 VAR_040605 p.Asp178Asn Polymorphism rs35548075 - CAMK4 Q16566 VAR_040606 p.Gln465Arg Polymorphism rs56360861 - CAMK4 Q16566 VAR_040607 p.Ile469Met Unclassified rs1239950009A lung large cell carcinoma sample CAMKK1 Q8N5S9 VAR_020531 p.Glu375Gly Polymorphism rs7214723 - CAMKK2 Q96RR4 VAR_020532 p.Thr85Ser Polymorphism rs3817190 - CAMKK2 Q96RR4 VAR_020533 p.Arg363Cys Polymorphism rs1132780 - CAMKK2 Q96RR4 VAR_032788 p.Ser10Asn Polymorphism rs28360477 - CAMKK2 Q96RR4 VAR_040610 p.Cys123Tyr Polymorphism rs35403710 - CAMKK2 Q96RR4 VAR_040611 p.Pro127Leu Unclassified - A lung neuroendocrine carcinoma sample CAMKK2 Q96RR4 VAR_040612 p.Ala182Thr Unclassified rs1207121718A colorectal adenocarcinoma sample CAMKK2 Q96RR4 VAR_040613 p.Arg492His Polymorphism rs34129994 - CAMKV Q8NCB2 VAR_027539 p.Tyr491Cys Polymorphism rs17849325 - CAMKV Q8NCB2 VAR_041337 p.Arg40Trp Unclassified rs1407808379A colorectal adenocarcinoma sample CAMKV Q8NCB2 VAR_041338 p.Gly60Ser Unclassified - An ovarian serous carcinoma sample CAMKV Q8NCB2 VAR_041339 p.Arg274Trp Unclassified - A colorectal adenocarcinoma sample CAMKV Q8NCB2 VAR_041340 p.Glu279Asp Polymorphism rs56071455 - CAMKV Q8NCB2 VAR_041341 p.Pro472Leu Polymorphism rs56307047 - CAMLG P49069 VAR_024297 p.Val78Ile Polymorphism rs12657663 - CAMLG P49069 VAR_050710 p.Gly100Ser Polymorphism rs11552197 - CAMSAP1 Q5T5Y3 VAR_038398 p.Ala476Val Polymorphism rs35639321 - CAMSAP2 Q08AD1 VAR_038399 p.Ile361Leu Unclassified - A colorectal cancer sample CAMSAP2 Q08AD1 VAR_038400 p.Pro958Leu Polymorphism rs3753952 - CAMSAP2 Q08AD1 VAR_038401 p.Arg1028Pro Polymorphism rs6674599 - CAMSAP2 Q08AD1 VAR_057796 p.Pro969Leu Polymorphism rs3753952 - CAMSAP2 Q08AD1 VAR_057797 p.Pro1039Arg Polymorphism rs6674599 - CAMSAP3 Q9P1Y5 VAR_053991 p.Pro335Ser Polymorphism rs3745358 - CAMTA1 Q9Y6Y1 VAR_047824 p.Asn1177Lys Polymorphism rs41278952 - CAMTA1 Q9Y6Y1 VAR_047825 p.Asn1218Thr Polymorphism rs41278954 - CAMTA1 Q9Y6Y1 VAR_047826 p.Thr1336Ile Polymorphism rs137974312 - CAMTA2 O94983 VAR_026417 p.Ala267Pro Polymorphism rs238234 - CAMTA2 O94983 VAR_026418 p.Ser903Pro Polymorphism rs16942615 - CAND1 Q86VP6 VAR_025327 p.Ala952Val Polymorphism rs17854618 - CAND1 Q86VP6 VAR_054041 p.Val803Ala Polymorphism rs12580996 - CAND2 O75155 VAR_055023 p.Gln408Arg Polymorphism rs2305398 - CAND2 O75155 VAR_055024 p.Pro476Leu Polymorphism rs2305397 - CAND2 O75155 VAR_055025 p.Ser533Pro Polymorphism rs3732675 - CAND2 O75155 VAR_055026 p.His655Arg Polymorphism rs9838943 - CAND2 O75155 VAR_055027 p.Leu845Phe Polymorphism rs17037287 - CAND2 O75155 VAR_055028 p.His858Pro Polymorphism rs3732678 - CAND2 O75155 VAR_055029 p.Val990Ile Polymorphism rs3817121 - CAND2 O75155 VAR_055030 p.Ala1225Thr Polymorphism rs12629133 - CANT1 Q8WVQ1 VAR_062980 p.Pro299Leu Disease rs267606700 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_062981 p.Arg300Cys Disease rs267606701 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_062982 p.Arg300His Disease rs267606699 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068655 p.Asp112Glu Disease rs749246739 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068656 p.Trp125Cys Disease rs587776898 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068657 p.Met165Thr Disease - Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068658 p.Leu224Pro Disease rs150181226 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068659 p.Val226Met Disease rs377546036 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068659 p.Val226Met Disease rs377546036 Epiphyseal dysplasia, multiple, 7 (EDM7) [MIM:617719] CANT1 Q8WVQ1 VAR_068660 p.Ser303Arg Disease - Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068661 p.Ala323Thr Polymorphism rs9903215 - CANT1 Q8WVQ1 VAR_068662 p.Ala360Asp Disease rs387907081 Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068663 p.Ile374Asn Disease - Desbuquois dysplasia 1 (DBQD1) [MIM:251450] CANT1 Q8WVQ1 VAR_068664 p.Gly391Glu Polymorphism rs34082669 - CANT1 Q8WVQ1 VAR_080400 p.Ile171Phe Unclassified rs1014317450Epiphyseal dysplasia, multiple, 7 (EDM7) [MIM:617719] CAP1 Q01518 VAR_028419 p.Cys229Gly Polymorphism rs11207440 - CAP1 Q01518 VAR_028420 p.Cys236Gly Polymorphism rs6665926 - CAP1 Q01518 VAR_028421 p.Ile245Ser Polymorphism rs6665933 - CAP1 Q01518 VAR_028422 p.Cys247Gly Polymorphism rs6665936 - CAP1 Q01518 VAR_028423 p.Tyr249Asp Polymorphism rs6665937 - CAP1 Q01518 VAR_028424 p.Ser256Ala Polymorphism rs6665944 - CAP2 P40123 VAR_033717 p.Thr311Ala Polymorphism rs34620829 - CAP2 P40123 VAR_033718 p.Tyr316Cys Polymorphism rs34206659 - CAPG P40121 VAR_047776 p.Val41Ile Polymorphism rs2229668 - CAPG P40121 VAR_047777 p.Arg198Trp Polymorphism rs11539103 - CAPG P40121 VAR_047778 p.His335Arg Polymorphism rs6886 - CAPN10 Q9HC96 VAR_014437 p.Pro200Thr Polymorphism rs3792268 - CAPN10 Q9HC96 VAR_014438 p.Arg202His Polymorphism rs768407925 - CAPN10 Q9HC96 VAR_014439 p.Ala341Val Polymorphism rs776848131 - CAPN10 Q9HC96 VAR_014440 p.Thr504Ala Polymorphism rs7607759 - CAPN10 Q9HC96 VAR_014441 p.Ala529Ser Polymorphism - - CAPN10 Q9HC96 VAR_014442 p.Ser613Asn Polymorphism rs146148004 - CAPN10 Q9HC96 VAR_014443 p.Ile666Val Polymorphism rs2975766 - CAPN10 Q9HC96 VAR_036049 p.Glu276Gly Unclassified - A colorectal cancer sample CAPN11 Q9UMQ6 VAR_024587 p.Ser728Asn Polymorphism rs7761137 - CAPN11 Q9UMQ6 VAR_033713 p.Val266Met Polymorphism rs6938938 - CAPN11 Q9UMQ6 VAR_033714 p.Val441Ala Polymorphism rs16871612 - CAPN11 Q9UMQ6 VAR_033715 p.Ile521Val Polymorphism rs34710081 - CAPN11 Q9UMQ6 VAR_033716 p.Ser544Arg Polymorphism rs35527493 - CAPN12 Q6ZSI9 VAR_051516 p.Cys287Arg Polymorphism rs12983010 - CAPN13 Q6MZZ7 VAR_028964 p.His249Tyr Polymorphism rs17010210 - CAPN13 Q6MZZ7 VAR_028965 p.Ala280Thr Polymorphism rs508405 - CAPN13 Q6MZZ7 VAR_028966 p.Ile596Thr Polymorphism rs2276568 - CAPN1 P07384 VAR_021085 p.Thr103Ala Polymorphism rs17885718 - CAPN1 P07384 VAR_021086 p.Arg433Pro Polymorphism rs10895991 - CAPN1 P07384 VAR_021087 p.Gly492Arg Polymorphism rs17883283 - CAPN1 P07384 VAR_021088 p.Val676Ile Polymorphism rs17884773 - CAPN1 P07384 VAR_077899 p.Arg295Pro Disease rs756205995 Spastic paraplegia 76, autosomal recessive (SPG76) [MIM:616907] CAPN2 P17655 VAR_014435 p.Asp22Glu Polymorphism rs25655 - CAPN2 P17655 VAR_014436 p.Lys568Gln Polymorphism rs17599 - CAPN2 P17655 VAR_021404 p.Ser68Gly Polymorphism rs2230083 - CAPN2 P17655 VAR_021405 p.Lys476Arg Polymorphism rs9804140 - CAPN2 P17655 VAR_021406 p.Glu521Gln Polymorphism rs28370127 - CAPN2 P17655 VAR_021407 p.Lys677Gln Polymorphism rs2230082 - CAPN3 P20807 VAR_001363 p.Leu182Gln Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_001365 p.Gly234Glu Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_001366 p.Val354Gly Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_001367 p.Arg490Trp Disease rs141656719 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_001368 p.Arg572Gln Disease rs121434544 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_001369 p.Ser744Gly Disease rs750083132 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_001370 p.Arg769Gln Disease rs80338802 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009548 p.Val4Ile Disease rs140660066 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009549 p.Pro26Leu Disease rs762020512 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009550 p.Asp77Asn Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009551 p.Ser86Phe Disease rs121434546 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009553 p.Glu107Lys Polymorphism rs1801505 - CAPN3 P20807 VAR_009554 p.Arg118Gly Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009555 p.Cys137Arg Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009556 p.Ile162Leu Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009557 p.Pro183Leu Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009558 p.Thr184Met Disease rs35889956 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009559 p.Leu189Pro Disease rs758795961 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009560 p.Gly214Ser Disease rs369784333 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009561 p.Ser215Pro Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009563 p.Glu217Lys Disease rs773001194 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009564 p.Gly222Arg Disease rs1345121557Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009565 p.Glu226Lys Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009566 p.Thr232Ile Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009567 p.Ala236Thr Polymorphism rs1801449 - CAPN3 P20807 VAR_009569 p.Pro319Leu Disease rs121434547 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009570 p.His334Gln Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009571 p.Tyr336Asn Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009572 p.Trp360Cys Disease rs267606703 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009573 p.Arg437Cys Disease rs777483913 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009574 p.Arg440Trp Disease rs777323132 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009575 p.Gly441Asp Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009576 p.Gly445Arg Disease rs773827877 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009577 p.Arg448Cys Disease rs776043976 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009578 p.Arg448Gly Disease rs776043976 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009579 p.Arg448His Disease rs863224956 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009580 p.Ser479Gly Disease rs201736037 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009581 p.Gln486Glu Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009582 p.Arg489Gln Disease rs147764579 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009583 p.Arg489Trp Disease rs863224957 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009584 p.Arg490Gln Disease rs121434548 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009585 p.Arg493Trp Disease rs557164942 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009586 p.Gly496Arg Disease rs761637940 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009587 p.Ile502Thr Disease rs148044781 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009588 p.Arg541Gln Disease rs398123143 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009589 p.Gly567Trp Disease rs727503839 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009590 p.Arg572Trp Disease rs863224959 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009591 p.Ser606Leu Disease rs199806879 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009592 p.Gln638Pro Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009593 p.Arg698Pro Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009594 p.Ala702Val Disease rs886042557 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009595 p.Asp705Gly Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009596 p.Asp705His Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009597 p.Phe731Ser Disease - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009598 p.Arg748Gln Disease rs587780290 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009599 p.His774Asp Unclassified - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_009600 p.Ala798Glu Unclassified rs149095128 Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) [MIM:253600] CAPN3 P20807 VAR_015389 p.Ala160Gly Polymorphism rs17592 - CAPN3 P20807 VAR_022272 p.Gly21Glu Polymorphism rs28364364 - CAPN3 P20807 VAR_047691 p.Glu622Ala Polymorphism rs11557723 - CAPN5 O15484 VAR_069277 p.Arg243Leu Disease rs397514601 Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235] CAPN5 O15484 VAR_069278 p.Leu244Pro Disease rs397514602 Vitreoretinopathy, neovascular inflammatory (VRNI) [MIM:193235] CAPN6 Q9Y6Q1 VAR_021084 p.Val277Leu Polymorphism rs12013711 - CAPN6 Q9Y6Q1 VAR_036048 p.Gly358Arg Unclassified - A colorectal cancer sample CAPN6 Q9Y6Q1 VAR_051515 p.Thr518Ile Polymorphism rs12851517 - CAPN9 O14815 VAR_022188 p.Ala102Val Polymorphism rs12562749 - CAPN9 O14815 VAR_022189 p.Ser122Arg Polymorphism rs28359608 - CAPN9 O14815 VAR_022190 p.Asp164Asn Polymorphism rs28359632 - CAPN9 O14815 VAR_022191 p.Ile234Thr Polymorphism rs28359644 - CAPN9 O14815 VAR_022192 p.Ala239Thr Polymorphism rs28359647 - CAPN9 O14815 VAR_022193 p.Arg277Trp Polymorphism rs28359655 - CAPN9 O14815 VAR_022194 p.Lys322Gln Polymorphism rs1933631 - CAPN9 O14815 VAR_022195 p.His327Gln Polymorphism rs28359684 - CAPN9 O14815 VAR_022196 p.Glu342Lys Polymorphism rs16852652 - CAPN9 O14815 VAR_022197 p.Arg458Trp Polymorphism rs28359688 - CAPN9 O14815 VAR_022198 p.Arg522Trp Polymorphism rs12731961 - CAPN9 O14815 VAR_022199 p.Met611Ile Polymorphism rs16852683 - CAPNS1 P04632 VAR_021089 p.Met224Val Polymorphism rs17878750 - CAPRIN1 Q14444 VAR_042425 p.Ala263Asp Polymorphism rs1132973 - CAPRIN1 Q14444 VAR_042426 p.Gln588His Polymorphism rs12282627 - CAPRIN1 Q14444 VAR_042427 p.Arg616His Polymorphism rs11552285 - CAPRIN2 Q6IMN6 VAR_034939 p.Met519Val Polymorphism rs2304630 - CAPRIN2 Q6IMN6 VAR_048445 p.Pro114Ser Polymorphism rs17688567 - CAPRIN2 Q6IMN6 VAR_048446 p.Lys237Arg Polymorphism rs12146709 - CAPRIN2 Q6IMN6 VAR_048447 p.Ser655Leu Polymorphism rs2304628 - CAPS2 Q9BXY5 VAR_061085 p.Leu125Phe Polymorphism rs10879901 - CAPSL Q8WWF8 VAR_029631 p.Arg85Gln Polymorphism rs1445898 - CAPSL Q8WWF8 VAR_029632 p.Met201Val Polymorphism rs1345826 - CAPS Q13938 VAR_048638 p.Arg125Gly Polymorphism rs7249419 - CAPS Q13938 VAR_080772 p.Arg180Gln Unclassified rs375700493 - CAPZA1 P52907 VAR_073834 p.Ser219Leu Polymorphism rs555597264 - CARD10 Q9BWT7 VAR_028116 p.Arg289Gln Polymorphism rs9610775 - CARD11 Q9BXL7 VAR_028117 p.Thr670Met Polymorphism rs3735134 - CARD11 Q9BXL7 VAR_028118 p.Ser694Leu Polymorphism rs3735133 - CARD11 Q9BXL7 VAR_069710 p.Gly123Ser Disease rs387907352 B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452] CARD11 Q9BXL7 VAR_069711 p.Glu134Gly Disease rs387907351 B-cell expansion with NFKB and T-cell anergy (BENTA) [MIM:616452] CARD11 Q9BXL7 VAR_079284 p.Glu57Asp Disease - Immunodeficiency 11B with atopic dermatitis (IMD11B) [MIM:617638] CARD11 Q9BXL7 VAR_079285 p.Leu194Pro Disease - Immunodeficiency 11B with atopic dermatitis (IMD11B) [MIM:617638] CARD11 Q9BXL7 VAR_079286 p.Arg975Trp Disease rs1064795307Immunodeficiency 11B with atopic dermatitis (IMD11B) [MIM:617638] CARD14 Q9BXL6 VAR_022043 p.Arg883His Polymorphism rs2289541 - CARD14 Q9BXL6 VAR_024401 p.Arg547Ser Polymorphism rs2066964 - CARD14 Q9BXL6 VAR_048608 p.Val585Ile Polymorphism rs34367357 - CARD14 Q9BXL6 VAR_059196 p.Arg820Trp Polymorphism rs11652075 - CARD14 Q9BXL6 VAR_061080 p.Arg962Gln Polymorphism rs34850974 - CARD14 Q9BXL6 VAR_068222 p.Arg38Cys Polymorphism rs281875217 - CARD14 Q9BXL6 VAR_068223 p.Arg62Gln Polymorphism rs115582620 - CARD14 Q9BXL6 VAR_068224 p.Gly117Ser Disease rs281875215 Pityriasis rubra pilaris (PRP) [MIM:173200] CARD14 Q9BXL6 VAR_068224 p.Gly117Ser Disease rs281875215 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_068225 p.Glu138Ala Disease rs281875214 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_068226 p.Glu142Gly Disease rs281875213 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_068227 p.Glu142Lys Disease rs281875212 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_068228 p.Leu150Arg Disease rs146214639 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_068229 p.His171Asn Polymorphism rs281875216 - CARD14 Q9BXL6 VAR_068230 p.Asp176His Polymorphism rs144475004 - CARD14 Q9BXL6 VAR_068231 p.Arg179His Polymorphism rs199517469 - CARD14 Q9BXL6 VAR_068232 p.Val191Leu Polymorphism rs281875218 - CARD14 Q9BXL6 VAR_068233 p.Ser200Asn Polymorphism rs114688446 - CARD14 Q9BXL6 VAR_068234 p.Asp285Gly Polymorphism rs281875219 - CARD14 Q9BXL6 VAR_068235 p.Ile593Asn Polymorphism rs281875220 - CARD14 Q9BXL6 VAR_068236 p.Arg682Trp Polymorphism rs117918077 - CARD14 Q9BXL6 VAR_068237 p.Gly714Ser Polymorphism rs151150961 - CARD14 Q9BXL6 VAR_068238 p.Asp973Glu Polymorphism rs144285237 - CARD14 Q9BXL6 VAR_068820 p.Leu156Pro Disease rs387907240 Pityriasis rubra pilaris (PRP) [MIM:173200] CARD14 Q9BXL6 VAR_078583 p.Arg69Trp Disease rs375624435 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078584 p.Cys127Ser Disease - Pityriasis rubra pilaris (PRP) [MIM:173200] CARD14 Q9BXL6 VAR_078585 p.Gln136Leu Disease - Pityriasis rubra pilaris (PRP) [MIM:173200] CARD14 Q9BXL6 VAR_078586 p.Arg151Gln Unclassified rs200731780 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078587 p.Arg151Trp Unclassified rs777305616 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078588 p.Glu197Lys Disease rs200790561 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078589 p.Leu209Pro Unclassified - Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078590 p.Ala216Thr Unclassified rs574982768 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078591 p.Arg218Cys Unclassified rs747854314 - CARD14 Q9BXL6 VAR_078592 p.Met338Val Unclassified rs200132496 - CARD14 Q9BXL6 VAR_078593 p.Leu350Pro Polymorphism rs1412261979- CARD14 Q9BXL6 VAR_078594 p.Leu357Pro Polymorphism - - CARD14 Q9BXL6 VAR_078595 p.Thr420Ala Unclassified rs762364495 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078596 p.Ser602Leu Unclassified rs201285077 Psoriasis 2 (PSORS2) [MIM:602723] CARD14 Q9BXL6 VAR_078597 p.Ala639Gly Unclassified - Psoriasis 2 (PSORS2) [MIM:602723] CARD16 Q5EG05 VAR_046279 p.Arg33Ser Polymorphism rs35966314 - CARD16 Q5EG05 VAR_046280 p.Gln37Lys Polymorphism rs1042744 - CARD16 Q5EG05 VAR_046281 p.Ala56Asp Polymorphism rs34534919 - CARD16 Q5EG05 VAR_046282 p.Asn167Ile Polymorphism rs542571 - CARD6 Q9BX69 VAR_046689 p.Ser86Leu Polymorphism rs10512747 - CARD6 Q9BX69 VAR_046690 p.Arg93Lys Polymorphism rs7715491 - CARD6 Q9BX69 VAR_046691 p.Met395Lys Polymorphism rs3812030 - CARD6 Q9BX69 VAR_046692 p.Asp426Val Polymorphism rs3812031 - CARD6 Q9BX69 VAR_046693 p.Ala575Asp Polymorphism rs36085996 - CARD6 Q9BX69 VAR_046694 p.Ile576Val Polymorphism rs323562 - CARD8 Q9Y2G2 VAR_048606 p.Ile68Val Polymorphism rs11881179 - CARD8 Q9Y2G2 VAR_061079 p.Glu99Ala Polymorphism rs59878320 - CARD9 Q9H257 VAR_048607 p.Ser12Asn Polymorphism rs4077515 - CARD9 Q9H257 VAR_070828 p.Gly72Ser Disease rs398122362 Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9 Q9H257 VAR_070829 p.Arg101Cys Disease rs398122364 Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9 Q9H257 VAR_070830 p.Arg373Pro Disease rs149712114 Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARMIL1 Q5VZK9 VAR_039923 p.Val77Ile Polymorphism rs9358856 - CARMIL1 Q5VZK9 VAR_039924 p.Pro545Leu Polymorphism rs12207840 - CARMIL1 Q5VZK9 VAR_039925 p.Ala639Gly Polymorphism rs7454756 - CARMIL1 Q5VZK9 VAR_039926 p.Asn1117Ser Polymorphism rs9885914 - CARMIL2 Q6F5E8 VAR_081149 p.Arg50Thr Disease - Immunodeficiency 58 (IMD58) [MIM:618131] CARMIL2 Q6F5E8 VAR_081150 p.Leu372Arg Disease - Immunodeficiency 58 (IMD58) [MIM:618131] CARMIL2 Q6F5E8 VAR_081151 p.Leu525Gln Disease - Immunodeficiency 58 (IMD58) [MIM:618131] CARMIL2 Q6F5E8 VAR_081152 p.Leu639His Disease - Immunodeficiency 58 (IMD58) [MIM:618131] CARMIL3 Q8ND23 VAR_039845 p.Leu1022Met Polymorphism rs10146906 - CARNS1 A5YM72 VAR_042625 p.Pro14Thr Polymorphism rs868167 - CARNS1 A5YM72 VAR_060320 p.Met498Leu Polymorphism rs17853668 - CARS2 Q9HA77 VAR_034523 p.Glu440Lys Polymorphism rs965189 - CARS2 Q9HA77 VAR_034524 p.Gln555Pro Polymorphism rs1043886 - CARS2 Q9HA77 VAR_075669 p.Pro251Leu Disease rs557671802 Combined oxidative phosphorylation deficiency 27 (COXPD27) [MIM:616672] CARTPT Q16568 VAR_012199 p.Leu61Phe Polymorphism rs121909065 - CARTPT Q16568 VAR_012200 p.Ser66Thr Polymorphism rs78242624 - CARTPT Q16568 VAR_053022 p.Leu113Met Polymorphism rs12517689 - CASC10 Q5T4H9 VAR_033739 p.Arg73Pro Polymorphism rs11012724 - CASC1 Q6TDU7 VAR_043008 p.Arg33Ser Polymorphism rs10842496 - CASC1 Q6TDU7 VAR_062232 p.Ala633Glu Polymorphism rs859146 - CASC2 Q6XLA1 VAR_039469 p.Pro8Ser Unclassified - Some patients with endometrial cancer CASD1 Q96PB1 VAR_035383 p.Arg386Ser Polymorphism rs17855797 - CASKIN2 Q8WXE0 VAR_060244 p.Glu891Gly Polymorphism rs7503373 - CASK O14936 VAR_041956 p.Gly96Val Unclassified - A lung large cell carcinoma sample CASK O14936 VAR_058719 p.Arg28Leu Disease rs137852816 FG syndrome 4 (FGS4) [MIM:300422] CASK O14936 VAR_062996 p.Tyr268His Disease rs137852817 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASK O14936 VAR_062997 p.Pro396Ser Disease rs137852820 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASK O14936 VAR_062998 p.Asp710Gly Disease rs137852818 Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASP10 Q92851 VAR_014071 p.Leu285Phe Disease rs17860403 Autoimmune lymphoproliferative syndrome 2A (ALPS2A) [MIM:603909] CASP10 Q92851 VAR_014072 p.Val410Ile Polymorphism rs13010627 - CASP10 Q92851 VAR_037428 p.Met147Thr Disease rs121909776 Gastric cancer (GASC) [MIM:613659] CASP10 Q92851 VAR_037429 p.Ile406Leu Polymorphism rs80358239 - CASP10 Q92851 VAR_037430 p.Ala414Val Disease rs28936699 Familial non-Hodgkin lymphoma (NHL) [MIM:605027] CASP10 Q92851 VAR_037431 p.Tyr446Cys Polymorphism rs17860405 - CASP10 Q92851 VAR_055361 p.Ser239Cys Polymorphism rs41473647 - CASP10 Q92851 VAR_055362 p.Pro444Ser Polymorphism rs41513147 - CASP10 Q92851 VAR_065233 p.Lys14Thr Unclassified - - CASP10 Q92851 VAR_065234 p.Arg21Cys Polymorphism rs559979934 - CASP10 Q92851 VAR_065235 p.Leu285Pro Unclassified - - CASP12 Q6UXS9 VAR_080638 p.Ile68Thr Polymorphism rs693001 - CASP12 Q6UXS9 VAR_080640 p.Ser238Gly Polymorphism rs647039 - CASP1 P29466 VAR_048615 p.Arg15His Polymorphism rs1042743 - CASP2 P42575 VAR_016334 p.Val172Leu Polymorphism rs4647297 - CASP2 P42575 VAR_016335 p.Pro178Ala Polymorphism rs4647298 - CASP2 P42575 VAR_016336 p.Arg441Gly Polymorphism rs4647338 - CASP2 P42575 VAR_055621 p.Ala105Gly Polymorphism rs4647298 - CASP3 P42574 VAR_001401 p.Glu190Asp Polymorphism rs1049210 - CASP3 P42574 VAR_048616 p.His22Arg Polymorphism rs35578277 - CASP4 P49662 VAR_061081 p.Asp47Asn Polymorphism rs56226603 - CASP4 P49662 VAR_061082 p.Glu284Asp Polymorphism rs55901059 - CASP4 P49662 VAR_075654 p.Arg134Cys Polymorphism rs181090259 - CASP5 P51878 VAR_024403 p.Phe29Leu Polymorphism rs3181320 - CASP5 P51878 VAR_024404 p.Arg168His Polymorphism rs3181179 - CASP5 P51878 VAR_024405 p.Val217Leu Polymorphism rs3181326 - CASP5 P51878 VAR_047216 p.Lys19Asn Polymorphism rs45483102 - CASP5 P51878 VAR_047217 p.Leu26Trp Polymorphism rs1792778 - CASP5 P51878 VAR_047218 p.Thr106Ala Polymorphism rs507879 - CASP5 P51878 VAR_047219 p.Leu334Val Polymorphism rs523104 - CASP5 P51878 VAR_047220 p.Glu353Lys Polymorphism rs45619739 - CASP5 P51878 VAR_054480 p.Leu75Arg Polymorphism rs45585331 - CASP5 P51878 VAR_054481 p.Arg298His Polymorphism rs45464699 - CASP5 P51878 VAR_054482 p.Glu382Gln Polymorphism rs45458695 - CASP6 P55212 VAR_016130 p.Ala109Thr Polymorphism rs5030674 - CASP6 P55212 VAR_020126 p.Thr182Ser Polymorphism rs5030593 - CASP6 P55212 VAR_029242 p.Glu35Lys Polymorphism rs11574697 - CASP7 P55210 VAR_048617 p.Asp4Glu Polymorphism rs11555408 - CASP7 P55210 VAR_048618 p.Asp255Glu Polymorphism rs2227310 - CASP8AP2 Q9UKL3 VAR_050700 p.Pro1659Ser Polymorphism rs3799896 - CASP8 Q14790 VAR_014204 p.Arg248Trp Disease rs17860424 Caspase-8 deficiency (CASP8D) [MIM:607271] CASP8 Q14790 VAR_020127 p.Asp285His Polymorphism rs1045485 - CASP8 Q14790 VAR_025816 p.Ser219Thr Polymorphism rs35976359 - CASP9 P55211 VAR_015415 p.Ala28Val Polymorphism rs1052571 - CASP9 P55211 VAR_015416 p.Ser99Leu Polymorphism rs4646008 - CASP9 P55211 VAR_015417 p.Thr102Ile Polymorphism rs2308941 - CASP9 P55211 VAR_015418 p.Leu106Val Polymorphism rs2308938 - CASP9 P55211 VAR_015419 p.Glu114Asp Polymorphism rs2020897 - CASP9 P55211 VAR_015420 p.Arg173His Polymorphism rs2308950 - CASP9 P55211 VAR_015421 p.Gln221Arg Polymorphism rs1052576 - CASP9 P55211 VAR_016131 p.Gly176Arg Polymorphism rs2308949 - CASP9 P55211 VAR_016132 p.Arg192Cys Polymorphism rs2308939 - CASP9 P55211 VAR_022053 p.Ile185Met Polymorphism rs9282624 - CASP9 P55211 VAR_059198 p.Phe136Leu Polymorphism rs1132312 - CASQ1 P31415 VAR_053021 p.Tyr140Phe Polymorphism rs34489853 - CASQ1 P31415 VAR_073337 p.Asp244Gly Disease rs730882052 Myopathy, vacuolar, with CASQ1 aggregates (VMCQA) [MIM:616231] CASQ1 P31415 VAR_079704 p.Asp44Asn Disease rs140253806 Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] CASQ1 P31415 VAR_079705 p.Gly103Asp Disease - Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] CASQ1 P31415 VAR_079706 p.Ile385Thr Disease rs371278891 Myopathy, tubular aggregate, 1 (TAM1) [MIM:160565] CASQ2 O14958 VAR_016075 p.Asp307His Disease rs121434549 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938] CASQ2 O14958 VAR_023692 p.Thr66Ala Polymorphism rs4074536 - CASQ2 O14958 VAR_023693 p.Val76Met Polymorphism rs10801999 - CASQ2 O14958 VAR_044118 p.Leu167His Disease rs121434550 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938] CASQ2 O14958 VAR_055234 p.Arg33Gln Disease rs749547712 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938] CASQ2 O14958 VAR_067036 p.His244Arg Polymorphism rs28730716 - CASQ2 O14958 VAR_067037 p.Asn335Lys Polymorphism rs28730712 - CASQ2 O14958 VAR_076546 p.Lys180Arg Disease rs886039816 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938] CASR P41180 VAR_003585 p.Pro39Ala Disease rs121909262 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003586 p.Arg62Met Disease rs121909265 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003587 p.Arg66Cys Disease rs121909266 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003588 p.Ala116Thr Disease rs104893691 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_003589 p.Glu127Ala Disease rs121909260 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_003590 p.Thr138Met Disease rs121909263 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003591 p.Gly143Glu Disease rs121909264 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003592 p.Leu174Arg Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003593 p.Arg185Gln Disease rs104893689 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003594 p.Arg227Leu Disease rs28936684 Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_003595 p.Arg227Gln Disease rs28936684 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003596 p.Glu297Lys Disease rs121909259 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003597 p.Cys582Tyr Disease rs104893690 Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_003597 p.Cys582Tyr Disease rs104893690 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003598 p.Gln681His Disease rs121909261 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_003599 p.Arg795Trp Disease rs121909258 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_003600 p.Phe806Ser Disease rs104893693 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_003601 p.Cys851Ser Polymorphism rs200777304 - CASR P41180 VAR_012649 p.Gly557Glu Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_014450 p.Ala986Ser Polymorphism rs1801725 - CASR P41180 VAR_014451 p.Glu1011Gln Polymorphism rs1801726 - CASR P41180 VAR_015414 p.Leu616Val Disease rs104893703 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_020220 p.Pro951Thr Polymorphism rs4987051 - CASR P41180 VAR_020221 p.Arg990Gly Polymorphism rs1042636 - CASR P41180 VAR_021019 p.Glu767Lys Disease - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058046 p.Leu11Ser Disease rs200673016 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058047 p.Leu13Pro Disease rs104893717 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058048 p.Thr14Ala Polymorphism rs199515839 - CASR P41180 VAR_058049 p.Gly21Arg Disease rs1064794290Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058050 p.Lys47Asn Disease rs104893702 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058051 p.Asn118Lys Disease rs104893695 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058052 p.Leu125Pro Disease rs104893708 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058053 p.Phe128Leu Disease rs104893696 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058054 p.Cys131Trp Disease rs121909267 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058055 p.Thr151Met Disease rs104893694 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058056 p.Ser171Asn Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058057 p.Phe180Cys Disease rs121909268 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058058 p.Glu191Lys Disease rs104893697 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058059 p.Pro221Gln Disease rs397514728 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058060 p.Lys225Thr Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058061 p.Glu250Lys Polymorphism rs62269092 - CASR P41180 VAR_058062 p.Ser271Phe Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058063 p.Gly397Arg Disease rs1064794291Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058064 p.Arg465Gln Disease rs104893716 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058065 p.Gly509Arg Disease rs193922423 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058066 p.Gly553Arg Disease rs104893719 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058067 p.Ile555Val Disease rs777646067 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058068 p.Cys562Tyr Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058069 p.Cys582Phe Disease rs104893690 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058070 p.Glu604Lys Disease rs104893712 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058071 p.Phe612Ser Disease rs104893698 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058072 p.Gly623Asp Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058073 p.Gly670Glu Disease rs104893700 Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_058074 p.Gly670Arg Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058075 p.Leu727Gln Disease rs104893718 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058076 p.Val728Phe Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058077 p.Trp742Arg Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_058078 p.Leu773Arg Disease rs104893699 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058079 p.Phe788Cys Disease rs104893701 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058080 p.Phe788Leu Disease rs886041537 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058081 p.Ser820Phe Disease rs104893710 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058082 p.Ala843Glu Disease rs104893706 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_058083 p.Phe881Leu Disease rs104893704 - CASR P41180 VAR_058084 p.Arg886Trp Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_060206 p.Glu354Ala Disease - Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] CASR P41180 VAR_060207 p.Ile686Val Disease rs753013993 Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] CASR P41180 VAR_060208 p.Arg898Gln Disease rs121909269 Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] CASR P41180 VAR_060209 p.Ala988Gly Disease - Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] CASR P41180 VAR_060210 p.Ala988Val Disease rs759027000 Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] CASR P41180 VAR_065198 p.Gln27Arg Unclassified - - CASR P41180 VAR_065199 p.Thr100Ile Disease - Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_065201 p.Pro339Thr Unclassified - - CASR P41180 VAR_065202 p.Leu650Pro Disease - Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_065203 p.Val689Met Disease - Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_065494 p.Val697Met Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078139 p.Phe42Ser Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078140 p.Ser53Pro Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078141 p.Pro55Leu Disease rs886041154 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078142 p.Arg66His Disease rs1276839362Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078143 p.Ile81Met Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078144 p.Ala110Thr Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078145 p.Ser122Cys Disease - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078146 p.Leu125Phe Disease - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078147 p.Cys129Arg Disease - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078148 p.Pro136Leu Disease - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078149 p.Gly143Arg Disease rs769256610 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078150 p.Gly158Arg Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078151 p.Leu159Pro Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078152 p.Ser166Gly Disease rs193922441 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078153 p.Arg172Gly Disease rs201851934 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078154 p.Asn178Asp Disease rs1060502855Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078155 p.Asp215Gly Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078156 p.Arg220Trp Disease rs1482119762Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078157 p.Pro221Leu Disease rs397514728 Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078158 p.Pro221Ser Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078159 p.Glu228Lys Disease - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078160 p.Gln459Arg Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078161 p.Gly549Arg Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078162 p.Thr550Ile Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078163 p.Arg551Lys Disease rs1060502861Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR P41180 VAR_078164 p.Cys565Gly Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078165 p.Pro569His Disease - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078166 p.Gly571Trp Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078168 p.Ser657Tyr Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078169 p.Cys661Tyr Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078170 p.Arg680His Disease rs773146939 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078171 p.Gln681Arg Disease - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078172 p.Glu707Val Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078173 p.Pro748Arg Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078175 p.Gly774Ser Disease - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078176 p.Asn802Ile Disease - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078177 p.Asn802Ser Disease rs140022350 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078178 p.Val817Ile Disease rs1057518933Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASR P41180 VAR_078179 p.Gly830Ser Disease - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078180 p.Phe832Leu Disease - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078181 p.Phe832Ser Disease - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078182 p.Ile839Thr Disease - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR P41180 VAR_078183 p.Thr972Met Disease rs200620134 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] CASS4 Q9NQ75 VAR_054084 p.Arg491Lys Polymorphism rs16979936 - CASS4 Q9NQ75 VAR_054085 p.Thr629Asn Polymorphism rs6069755 - CASS4 Q9NQ75 VAR_054086 p.Pro660Ser Polymorphism rs35031530 - CASS4 Q9NQ75 VAR_054087 p.Gln780His Polymorphism rs7272702 - CAST P20810 VAR_005298 p.Glu592Gly Polymorphism - - CAST P20810 VAR_022686 p.Cys408Ser Polymorphism rs754615 - CAST P20810 VAR_030741 p.Glu380Lys Polymorphism rs1643702 - CAST P20810 VAR_030742 p.Ala537Val Polymorphism rs4948 - CASZ1 Q86V15 VAR_077466 p.Leu38Pro Disease - - CATSPER1 Q8NEC5 VAR_033304 p.Gly133Ser Polymorphism rs1203998 - CATSPER1 Q8NEC5 VAR_033305 p.Val652Ile Polymorphism rs3814747 - CATSPER1 Q8NEC5 VAR_033306 p.Thr730Pro Polymorphism rs34958219 - CATSPER2 Q96P56 VAR_033307 p.Glu8Gly Polymorphism rs2614835 - CATSPER2 Q96P56 VAR_033308 p.Val57Ile Polymorphism rs8042868 - CATSPER3 Q86XQ3 VAR_033309 p.Asn204Lys Polymorphism rs3896260 - CATSPER4 Q7RTX7 VAR_033310 p.Gln77Arg Polymorphism rs11247866 - CATSPER4 Q7RTX7 VAR_033311 p.Leu124Phe Polymorphism rs12138368 - CATSPER4 Q7RTX7 VAR_033312 p.Ile293Val Polymorphism rs17257155 - CATSPER4 Q7RTX7 VAR_033313 p.Asp436Asn Polymorphism rs6657616 - CATSPERB Q9H7T0 VAR_061634 p.Phe318Tyr Polymorphism rs57706558 - CATSPERD Q86XM0 VAR_032270 p.Thr504Ala Polymorphism rs17854252 - CATSPERD Q86XM0 VAR_032271 p.Thr743Ser Polymorphism rs2305925 - CATSPERD Q86XM0 VAR_061714 p.Met212Thr Polymorphism rs57680462 - CATSPERE Q5SY80 VAR_027661 p.Thr66Lys Polymorphism rs11586356 - CATSPERE Q5SY80 VAR_035494 p.Thr653Ile Unclassified - A breast cancer sample CATSPERE Q5SY80 VAR_061566 p.Thr56Ser Polymorphism rs58602830 - CATSPERG Q6ZRH7 VAR_059631 p.Leu29Pro Polymorphism rs2302182 - CATSPERG Q6ZRH7 VAR_059632 p.Ser650Arg Polymorphism rs3745953 - CATSPERG Q6ZRH7 VAR_059633 p.Met1137Thr Polymorphism rs2286550 - CATSPERZ Q9NTU4 VAR_046370 p.Pro68Leu Polymorphism rs2286614 - CAV1 Q03135 VAR_015103 p.Pro132Leu Unclassified - Breast cancer CAV2 P516