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humsavar.txt

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        UniProt - Swiss-Prot Protein Knowledgebase
        SIB Swiss Institute of Bioinformatics; Geneva, Switzerland
        European Bioinformatics Institute (EBI); Hinxton, United Kingdom
        Protein Information Resource (PIR); Washington DC, USA
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Description: Index of human variants curated from literature reports
Name:        humsavar.txt
Release:     2021_02 of 07-Apr-2021

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This file lists all missense variants annotated in UniProtKB/Swiss-Prot human
entries. It provides a variant classification which is intended for research
purposes only, not for clinical and diagnostic use.

 - The column 'Variant category' shows the classification of the variant using
   the American College of Medical Genetics and Genomics/Association for
   Molecular Pathology (ACMG/AMP) terminology (Richards et al. PubMed:25741868)
   into the following categories:

   LP/P = likely pathogenic or pathogenic
   LB/B = likely benign or benign
   US   = uncertain significance

   These categories are assigned based on the variant annotation in the
   corresponding UniProtKB/Swiss-Prot entries that is curated from literature
   reports. The classification may change over time and must not be considered
   as a definitive statement about the pathogenic role of a variant.

 - The column 'Disease name' shows the name of the disease or the disease sample
   in which variants have been found. Names are only provided for diseases
   catalogued in OMIM and for cancer samples.

Statistics for single amino acid variants:

             LP/P:  31290
             LB/B:  39572
             US:    8654
             Total: 79516

Main      Swiss-Prot             AA             Variant
gene name AC         FTId        change         category dbSNP          Disease name
_________ __________ ___________ ______________ ________ ______________ _____________________
A1BG      P04217     VAR_018369  p.His52Arg     LB/B     rs893184       -
A1BG      P04217     VAR_018370  p.His395Arg    LB/B     rs2241788      -
A1CF      Q9NQ94     VAR_052201  p.Val555Met    LB/B     rs9073         -
A1CF      Q9NQ94     VAR_059821  p.Ala558Ser    LB/B     rs11817448     -
A2M       P01023     VAR_000012  p.Arg704His    LB/B     rs1800434      -
A2M       P01023     VAR_000013  p.Cys972Tyr    LB/B     rs1800433      -
A2M       P01023     VAR_000014  p.Ile1000Val   LB/B     rs669          -
A2M       P01023     VAR_026820  p.Asn639Asp    LB/B     rs226405       -
A2M       P01023     VAR_026821  p.Leu815Gln    LB/B     rs3180392      -
A2ML1     A8K2U0     VAR_055463  p.Gly207Arg    LB/B     rs11047499     -
A2ML1     A8K2U0     VAR_055464  p.Cys970Tyr    LB/B     rs1558526      -
A2ML1     A8K2U0     VAR_055465  p.Thr1131Met   LB/B     rs7959680      -
A2ML1     A8K2U0     VAR_055466  p.Thr1412Ala   LB/B     rs7315591      -
A2ML1     A8K2U0     VAR_059083  p.Asp850Glu    LB/B     rs1860926      -
A2ML1     A8K2U0     VAR_059084  p.His1229Arg   LB/B     rs10219561     -
A2ML1     A8K2U0     VAR_071854  p.Arg1122Trp   LB/B     rs1860967      -
A2ML1     A8K2U0     VAR_071855  p.Met1257Val   LB/B     rs7308811      -
A2ML1     A8K2U0     VAR_071856  p.Thr1312Met   LB/B     rs201083574    -
A2ML1     A8K2U0     VAR_081010  p.Val296Ala    LB/B     rs192888493    -
A2ML1     A8K2U0     VAR_081011  p.Pro356Arg    LB/B     rs863224953    -
A2ML1     A8K2U0     VAR_081014  p.Arg1001Trp   LB/B     rs201725377    -
A2ML1     A8K2U0     VAR_081015  p.Ala1431Val   LB/B     rs863224955    -
A4GALT    Q9NPC4     VAR_014296  p.Met37Val     LB/B     rs11541159     -
A4GALT    Q9NPC4     VAR_014297  p.Met183Lys    LB/B     rs74315453     -
A4GALT    Q9NPC4     VAR_017508  p.Gly187Asp    LB/B     rs28940572     -
A4GALT    Q9NPC4     VAR_017509  p.Pro251Leu    LB/B     rs28940571     -
A4GALT    Q9NPC4     VAR_022320  p.Gln163Arg    LB/B     rs28915383     -
A4GALT    Q9NPC4     VAR_080910  p.Gln211Glu    LB/B     rs397514502    -
A4GNT     Q9UNA3     VAR_022096  p.Ala218Asp    LB/B     rs2246945      -
AAAS      Q9NRG9     VAR_012804  p.Gln15Lys     LP/P     rs121918549    Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS      Q9NRG9     VAR_012805  p.His160Arg    LP/P     rs1297831120   Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS      Q9NRG9     VAR_012806  p.Ser263Pro    LP/P     rs121918550    Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS      Q9NRG9     VAR_037060  p.Lys108Met    LB/B     rs13330        -
AACS      Q86V21     VAR_038303  p.Ile118Val    LB/B     rs11549081     -
AACS      Q86V21     VAR_060997  p.Ala470Val    LB/B     rs59883951     -
AADAC     P22760     VAR_014798  p.Val281Ile    LB/B     rs1803155      -
AADACL2   Q6P093     VAR_038140  p.Ala186Ser    LB/B     rs1972977      -
AADACL2   Q6P093     VAR_038141  p.Leu343Ile    LB/B     rs1052562      -
AADACL3   Q5VUY0     VAR_060665  p.Phe252Cys    LB/B     rs7513079      -
AADACL3   Q5VUY0     VAR_060666  p.Pro104Ser    LB/B     rs3010877      -
AADACL3   Q5VUY0     VAR_060667  p.Leu128Met    LB/B     rs3000859      -
AADACL3   Q5VUY0     VAR_060668  p.Arg186Trp    LB/B     rs17038445     -
AADACL3   Q5VUY0     VAR_060670  p.Met307Ile    LB/B     rs3000931      -
AADACL3   Q5VUY0     VAR_060671  p.Pro337Leu    LB/B     rs11121969     -
AADAT     Q8N5Z0     VAR_061005  p.Val243Ile    LB/B     rs56350236     -
AAGAB     Q6PD74     VAR_021533  p.Ile132Leu    LB/B     rs7173826      -
AAK1      Q2M2I8     VAR_031129  p.Lys509Gln    LB/B     rs6715776      -
AAK1      Q2M2I8     VAR_040348  p.Ile59Val     LB/B     rs34535244     -
AAK1      Q2M2I8     VAR_040349  p.Gln533His    LB/B     rs1263928487   -
AAK1      Q2M2I8     VAR_040350  p.Val603Ala    LB/B     rs56038532     -
AAK1      Q2M2I8     VAR_040351  p.Thr694Met    LB/B     rs55889248     -
AAK1      Q2M2I8     VAR_040352  p.Pro725Thr    LB/B     rs35285785     -
AAK1      Q2M2I8     VAR_040353  p.Pro771Arg    LB/B     rs34422616     -
AAK1      Q2M2I8     VAR_040354  p.Gly835Asp    LB/B     -              -
AAMDC     Q9H7C9     VAR_052696  p.Val92Met     LB/B     rs2186564      -
AAMP      Q13685     VAR_037061  p.Ile250Val    LB/B     rs2305835      -
AANAT     Q16613     VAR_048168  p.Arg15Cys     LB/B     rs34470791     -
AANAT     Q16613     VAR_055086  p.Ala129Thr    US       rs28936679     -
AAR2      Q9Y312     VAR_048127  p.Pro124Thr    LB/B     rs6121183      -
AARD      Q4LEZ3     VAR_043570  p.Gly96Arg     LB/B     rs16889283     -
AARS1     P49588     VAR_028204  p.Gly275Asp    LB/B     rs11537667     -
AARS1     P49588     VAR_063527  p.Arg329His    LP/P     rs267606621    Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]
AARS1     P49588     VAR_067084  p.Asn71Tyr     LP/P     rs387906792    Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]
AARS1     P49588     VAR_073293  p.Thr608Met    US       -              -
AARS1     P49588     VAR_073719  p.Lys81Thr     LP/P     rs786205157    Developmental and epileptic encephalopathy 29 (DEE29) [MIM:616339]
AARS1     P49588     VAR_073720  p.Arg751Gly    LP/P     rs143370729    Developmental and epileptic encephalopathy 29 (DEE29) [MIM:616339]
AARS1     P49588     VAR_079703  p.Gly913Asp    LP/P     rs369774476    Developmental and epileptic encephalopathy 29 (DEE29) [MIM:616339]
AARS2     Q5JTZ9     VAR_027609  p.Ile339Val    LB/B     rs324136       -
AARS2     Q5JTZ9     VAR_027610  p.Ala484Asp    LB/B     rs495294       -
AARS2     Q5JTZ9     VAR_057357  p.Met850Val    LB/B     rs35783144     -
AARS2     Q5JTZ9     VAR_065956  p.Leu155Arg    LP/P     rs387907061    Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]
AARS2     Q5JTZ9     VAR_065957  p.Arg592Trp    LP/P     rs138119149    Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]
AARS2     Q5JTZ9     VAR_071837  p.Phe50Cys     LP/P     rs587777590    Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
AARS2     Q5JTZ9     VAR_071838  p.Ala77Val     US       rs375949891    -
AARS2     Q5JTZ9     VAR_071840  p.Arg199Cys    US       rs200105202    -
AARS2     Q5JTZ9     VAR_071841  p.Glu405Lys    LP/P     rs587777592    Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
AARS2     Q5JTZ9     VAR_071842  p.Val730Met    LB/B     rs35623954     -
AARS2     Q5JTZ9     VAR_071843  p.Gly965Arg    LP/P     rs543267101    Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
AASDH     Q4L235     VAR_038309  p.Lys368Arg    LB/B     rs3796543      -
AASDH     Q4L235     VAR_038310  p.Ala747Val    LB/B     rs3796544      -
AASDH     Q4L235     VAR_038311  p.Val774Ile    LB/B     rs3796545      -
AASDH     Q4L235     VAR_038312  p.Thr865Ala    LB/B     rs12498340     -
AASDH     Q4L235     VAR_038313  p.Tyr1030Asp   LB/B     rs8340         -
AASDH     Q4L235     VAR_061008  p.Ile61Val     LB/B     rs34543011     -
AASDH     Q4L235     VAR_061009  p.Pro93Arg     LB/B     rs34228795     -
AATK      Q6ZMQ8     VAR_027267  p.Thr118Met    LB/B     rs8082016      -
AATK      Q6ZMQ8     VAR_032679  p.Ser81Phe     US       -              An ovarian mucinous carcinoma sample
AATK      Q6ZMQ8     VAR_032680  p.Leu97Val     US       -              A lung adenocarcinoma sample
AATK      Q6ZMQ8     VAR_032681  p.Met104Val    US       rs1337040042   An ovarian mucinous carcinoma sample
AATK      Q6ZMQ8     VAR_032682  p.Gly703Cys    LB/B     rs7503604      -
AATK      Q6ZMQ8     VAR_032683  p.Ser815Arg    LB/B     rs56032966     -
AATK      Q6ZMQ8     VAR_032684  p.Ser923Leu    LB/B     rs56313973     -
AATK      Q6ZMQ8     VAR_032685  p.Glu1160Lys   LB/B     rs55793641     -
AATK      Q6ZMQ8     VAR_032686  p.Pro1192Ser   LB/B     rs55856613     -
AATK      Q6ZMQ8     VAR_032687  p.Phe1266Ser   LB/B     rs36000545     -
AATK      Q6ZMQ8     VAR_032688  p.Ala1332Thr   LB/B     rs55713566     -
ABAT      P80404     VAR_008883  p.Arg220Lys    LP/P     rs121434578    GABA transaminase deficiency (GABATD) [MIM:613163]
ABAT      P80404     VAR_018979  p.Gln56Arg     LB/B     rs1731017      -
ABCA1     O95477     VAR_009145  p.Val399Ala    LB/B     rs9282543      -
ABCA1     O95477     VAR_009146  p.Arg587Trp    LP/P     rs2853574      Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_009147  p.Trp590Ser    LP/P     rs137854496    Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_009148  p.Gln597Arg    LP/P     rs2853578      Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_009150  p.Asn935Ser    LP/P     rs28937313     Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_009151  p.Ala937Val    LP/P     rs137854495    Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_009152  p.Asp1289Asn   LP/P     rs137854500    Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_009153  p.Cys1477Arg   LP/P     rs137854494    Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_009154  p.Ile1517Arg   LP/P     -              Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_009155  p.Asn1800His   LP/P     rs146292819    Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_012618  p.Arg219Lys    LB/B     rs2230806      -
ABCA1     O95477     VAR_012619  p.Arg230Cys    LB/B     rs9282541      -
ABCA1     O95477     VAR_012620  p.Ala255Thr    LP/P     rs758100110    Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_012621  p.Val771Met    LB/B     rs2066718      -
ABCA1     O95477     VAR_012622  p.Thr774Pro    LB/B     rs35819696     -
ABCA1     O95477     VAR_012623  p.Lys776Asn    LB/B     rs138880920    -
ABCA1     O95477     VAR_012624  p.Val825Ile    LB/B     rs2066715      -
ABCA1     O95477     VAR_012625  p.Ile883Met    LB/B     rs2066714      -
ABCA1     O95477     VAR_012626  p.Thr929Ile    LP/P     -              Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_012627  p.Ala1046Asp   LP/P     rs141021096    Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_012628  p.Met1091Thr   LP/P     -              Hypoalphalipoproteinemia, primary, 1 (FHA1) [MIM:604091]
ABCA1     O95477     VAR_012629  p.Glu1172Asp   LB/B     rs33918808     -
ABCA1     O95477     VAR_012630  p.Ser1506Leu   LP/P     rs137854497    Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_012631  p.Lys1587Arg   LB/B     rs2230808      -
ABCA1     O95477     VAR_012632  p.Asn1611Asp   LP/P     -              -
ABCA1     O95477     VAR_012633  p.Ser1731Cys   LB/B     rs760507032    -
ABCA1     O95477     VAR_012635  p.Arg2081Trp   LP/P     rs137854501    Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_012636  p.Pro2150Leu   LP/P     rs369098049    Hypoalphalipoproteinemia, primary, 1 (FHA1) [MIM:604091]
ABCA1     O95477     VAR_012637  p.Leu2168Pro   LB/B     rs2853577      -
ABCA1     O95477     VAR_012638  p.Ile1555Thr   LB/B     rs1997618      -
ABCA1     O95477     VAR_012639  p.Leu1648Pro   LB/B     rs1883024      -
ABCA1     O95477     VAR_017016  p.Ser1181Phe   LB/B     rs76881554     -
ABCA1     O95477     VAR_017529  p.Pro85Leu     LP/P     rs145183203    Hypoalphalipoproteinemia, primary, 1 (FHA1) [MIM:604091]
ABCA1     O95477     VAR_017530  p.Asp1099Tyr   LP/P     rs28933692     Hypoalphalipoproteinemia, primary, 1 (FHA1) [MIM:604091]
ABCA1     O95477     VAR_035724  p.Glu210Asp    US       -              A colorectal cancer sample
ABCA1     O95477     VAR_035725  p.Asp917Tyr    US       -              A colorectal cancer sample
ABCA1     O95477     VAR_035726  p.Ala1407Thr   US       rs189206655    A colorectal cancer sample
ABCA1     O95477     VAR_035727  p.Ala2109Thr   US       -              A colorectal cancer sample
ABCA1     O95477     VAR_037968  p.Asn935His    LP/P     rs28937314     Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_037969  p.Val1054Ile   LB/B     rs13306072     -
ABCA1     O95477     VAR_037970  p.Arg1680Trp   LP/P     rs137854498    Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_037971  p.Phe2009Ser   LP/P     rs137854499    Hypoalphalipoproteinemia, primary, 1 (FHA1) [MIM:604091]
ABCA1     O95477     VAR_062481  p.Pro248Ala    LB/B     rs142625938    -
ABCA1     O95477     VAR_062482  p.Glu284Lys    LP/P     -              Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_062483  p.Ser364Cys    LB/B     rs775035559    -
ABCA1     O95477     VAR_062484  p.Lys401Gln    LB/B     rs138487227    -
ABCA1     O95477     VAR_062485  p.Tyr482Cys    LP/P     -              Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_062486  p.Arg496Trp    LB/B     rs147675550    -
ABCA1     O95477     VAR_062487  p.Trp590Leu    LP/P     rs137854496    Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_062488  p.Arg638Gln    LB/B     rs374190304    -
ABCA1     O95477     VAR_062489  p.Thr774Ser    LB/B     -              -
ABCA1     O95477     VAR_062490  p.Glu815Gly    LB/B     rs145582736    -
ABCA1     O95477     VAR_062491  p.Trp840Arg    LP/P     rs1322998567   Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_062492  p.Pro1065Ser   LB/B     -              -
ABCA1     O95477     VAR_062493  p.Arg1068Cys   LP/P     rs745593394    Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_062494  p.Gly1216Val   LB/B     rs562403512    -
ABCA1     O95477     VAR_062495  p.Arg1341Thr   LB/B     rs147743782    -
ABCA1     O95477     VAR_062496  p.Ser1376Gly   LB/B     rs145689805    -
ABCA1     O95477     VAR_062497  p.Leu1379Phe   LP/P     -              Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_062498  p.Arg1615Gln   LB/B     rs1251839800   -
ABCA1     O95477     VAR_062499  p.Ala1670Thr   LB/B     rs1203589782   -
ABCA1     O95477     VAR_062500  p.Arg1680Gln   LB/B     rs150125857    -
ABCA1     O95477     VAR_062501  p.Val1704Asp   LP/P     -              Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_062502  p.Arg1851Gln   LP/P     rs1055285452   Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_062503  p.Arg1897Trp   US       rs760768125    Hypoalphalipoproteinemia, primary, 1 (FHA1) [MIM:604091]
ABCA1     O95477     VAR_062504  p.Arg1901Ser   LP/P     -              Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_062505  p.Arg1925Gln   LB/B     rs142688906    -
ABCA1     O95477     VAR_062506  p.Phe2163Ser   US       -              -
ABCA1     O95477     VAR_062507  p.Gln2196His   LP/P     rs564764153    Tangier disease (TGD) [MIM:205400]
ABCA1     O95477     VAR_062508  p.Asp2243Glu   LB/B     rs34879708     -
ABCA1     O95477     VAR_062509  p.Val2244Ile   LB/B     rs144588452    -
ABCA10    Q8WWZ4     VAR_028384  p.Pro203Ser    LB/B     rs9909216      -
ABCA10    Q8WWZ4     VAR_028385  p.Ile287Val    LB/B     rs11657804     -
ABCA10    Q8WWZ4     VAR_028386  p.Met916Thr    LB/B     rs4968849      -
ABCA10    Q8WWZ4     VAR_055469  p.Arg1322Trp   LB/B     rs10491178     -
ABCA12    Q86UK0     VAR_019597  p.Ser459Thr    LB/B     rs113112835    -
ABCA12    Q86UK0     VAR_019598  p.Asn1380Ser   LP/P     rs28940269     Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_019599  p.Gly1381Glu   LP/P     rs28940268     Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_019600  p.Arg1514His   LP/P     rs28940270     Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_019601  p.Glu1539Lys   LP/P     rs28940271     Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_019602  p.Gly1651Ser   LP/P     rs28940568     Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_027444  p.Glu550Gly    LB/B     rs16853149     -
ABCA12    Q86UK0     VAR_027445  p.Ser777Thr    LB/B     rs7560008      -
ABCA12    Q86UK0     VAR_027446  p.Gly1251Asp   LB/B     rs13414448     -
ABCA12    Q86UK0     VAR_027447  p.Arg1546Cys   LB/B     rs13401480     -
ABCA12    Q86UK0     VAR_027448  p.Glu2064Lys   LB/B     rs1213011      -
ABCA12    Q86UK0     VAR_027449  p.Asp2365Asn   LB/B     rs726070       -
ABCA12    Q86UK0     VAR_055473  p.Trp199Cys    LB/B     rs16853238     -
ABCA12    Q86UK0     VAR_055474  p.Asn237His    LB/B     rs11890512     -
ABCA12    Q86UK0     VAR_055475  p.Gln274Arg    LB/B     rs11890468     -
ABCA12    Q86UK0     VAR_055476  p.Arg287Gly    LB/B     rs11891778     -
ABCA12    Q86UK0     VAR_062663  p.Ala476Val    US       rs370640837    A pancreatic ductal adenocarcinoma sample
ABCA12    Q86UK0     VAR_067075  p.Thr345Pro    LP/P     rs1295935868   Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067076  p.Ser387Asn    LP/P     rs746315995    Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]
ABCA12    Q86UK0     VAR_067077  p.Gly1136Asp   LP/P     -              Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067078  p.Gly1179Arg   LP/P     rs267606622    Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]
ABCA12    Q86UK0     VAR_067079  p.Trp1235Ser   LP/P     -              Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067080  p.Ile1494Thr   LP/P     rs1263698595   Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067081  p.Gly1559Val   LP/P     rs1457513156   Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067082  p.Pro1798Leu   LP/P     rs181314573    Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067083  p.Thr1980Lys   LP/P     rs763858530    Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA13    Q86UQ4     VAR_055470  p.Thr1508Ile   LB/B     rs6583483      -
ABCA13    Q86UQ4     VAR_059087  p.Pro506Leu    LB/B     rs1880738      -
ABCA13    Q86UQ4     VAR_059088  p.Arg555His    LB/B     rs2361519      -
ABCA13    Q86UQ4     VAR_059089  p.Ile767Ser    LB/B     rs17712293     -
ABCA13    Q86UQ4     VAR_059090  p.Glu799Lys    LB/B     rs17547816     -
ABCA13    Q86UQ4     VAR_059091  p.Ile1434Val   LB/B     rs17132195     -
ABCA13    Q86UQ4     VAR_059092  p.Phe1540Leu   LB/B     rs17712299     -
ABCA13    Q86UQ4     VAR_059093  p.Ile1889Lys   LB/B     rs17132197     -
ABCA13    Q86UQ4     VAR_059094  p.Asn2033Asp   LB/B     rs17661364     -
ABCA13    Q86UQ4     VAR_059095  p.Ser2154Leu   LB/B     rs17092911     -
ABCA13    Q86UQ4     VAR_059096  p.Ala2178Glu   LB/B     rs1880736      -
ABCA13    Q86UQ4     VAR_059097  p.Leu2212Ser   LB/B     rs17132198     -
ABCA13    Q86UQ4     VAR_059098  p.Lys2436Arg   LB/B     rs17132206     -
ABCA13    Q86UQ4     VAR_059099  p.Ser2537Ala   LB/B     rs17132208     -
ABCA13    Q86UQ4     VAR_059100  p.Arg2674Trp   LB/B     rs2222648      -
ABCA13    Q86UQ4     VAR_059101  p.Ala3142Val   LB/B     rs3931814      -
ABCA13    Q86UQ4     VAR_059102  p.Tyr3851Phe   LB/B     rs17132289     -
ABCA13    Q86UQ4     VAR_059103  p.Asn4277Asp   LB/B     rs4917152      -
ABCA13    Q86UQ4     VAR_059104  p.Gln4302Arg   LB/B     rs4917153      -
ABCA13    Q86UQ4     VAR_059105  p.Pro4335Ala   LB/B     rs17132370     -
ABCA2     Q9BZC7     VAR_044526  p.Pro583His    LB/B     rs908828       -
ABCA2     Q9BZC7     VAR_044527  p.Phe674Val    LB/B     rs2090625      -
ABCA3     Q99758     VAR_023497  p.Leu101Pro    LP/P     rs121909182    Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_023498  p.Asn568Asp    LP/P     rs121909184    Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_023499  p.Leu1553Pro   LP/P     rs121909183    Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_023500  p.Gln1591Pro   LP/P     rs28936691     Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_025061  p.Asn140His    LB/B     rs45447801     -
ABCA3     Q99758     VAR_025062  p.Pro766Ser    LB/B     rs45592239     -
ABCA3     Q99758     VAR_035728  p.Leu290Met    US       -              A breast cancer sample
ABCA3     Q99758     VAR_035729  p.Glu801Asp    US       -              A breast cancer sample
ABCA3     Q99758     VAR_035730  p.His1069Gln   US       -              A breast cancer sample
ABCA3     Q99758     VAR_084240  p.Arg43Leu     US       -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084241  p.Gln215Lys    LP/P     -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084242  p.Arg280Cys    US       -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084243  p.Arg288Lys    US       -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084244  p.Glu292Val    US       -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084245  p.Leu579Pro    US       -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084246  p.Arg605Gln    US       -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084247  p.Glu690Lys    LP/P     -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084248  p.Leu982Pro    LP/P     -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084249  p.Asn1076Lys   US       -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084250  p.Thr1114Met   LP/P     -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084251  p.Gly1221Ser   LP/P     -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084252  p.Pro1301Leu   LP/P     -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084253  p.Gly1302Glu   US       -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084254  p.Lys1388Asn   LP/P     -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084255  p.Val1399Met   LP/P     -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_084257  p.Leu1580Pro   LP/P     -              Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA4     P78363     VAR_008398  p.Arg18Trp     LP/P     rs121909205    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008399  p.Arg24His     LP/P     rs62645958     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008400  p.Cys54Tyr     LP/P     rs150774447    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008401  p.Gly65Glu     LP/P     rs62654395     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008401  p.Gly65Glu     LP/P     rs62654395     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008402  p.Cys75Gly     LP/P     rs61748526     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008403  p.Asn96Asp     LP/P     rs61748529     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008404  p.Asn96His     LP/P     rs61748529     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008405  p.Ala192Thr    LP/P     rs61748535     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008406  p.Arg212Cys    LP/P     rs61750200     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008406  p.Arg212Cys    LP/P     rs61750200     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008407  p.Asp249Gly    LP/P     rs62646865     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008408  p.Thr300Asn    LP/P     rs61748544     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008409  p.Ser336Cys    LP/P     rs61748547     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008410  p.Tyr340Asp    LP/P     rs61748548     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008411  p.Ala407Val    LP/P     rs61751264     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008411  p.Ala407Val    LP/P     rs61751264     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008412  p.Ser445Arg    LP/P     rs61748552     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008413  p.Glu471Lys    US       rs1800548      Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008413  p.Glu471Lys    US       rs1800548      Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008414  p.Asp523Glu    LP/P     rs62646868     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008415  p.Leu541Pro    LP/P     rs61751392     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008415  p.Leu541Pro    LP/P     rs61751392     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008415  p.Leu541Pro    LP/P     rs61751392     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008416  p.Arg572Pro    LP/P     rs61748559     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008417  p.Arg572Gln    LP/P     rs61748559     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008418  p.Arg602Trp    LP/P     rs61749409     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008419  p.Phe608Ile    LP/P     rs61752398     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008420  p.Val643Gly    LB/B     rs61754024     -
ABCA4     P78363     VAR_008421  p.Asp645Asn    LP/P     rs61749418     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008422  p.Gly818Glu    LP/P     rs61750202     Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008422  p.Gly818Glu    LP/P     rs61750202     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008423  p.Trp821Arg    LP/P     rs61749433     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008424  p.Gly851Asp    LP/P     rs61749436     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008425  p.Gly863Ala    LP/P     rs76157638     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008425  p.Gly863Ala    LP/P     rs76157638     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008425  p.Gly863Ala    LP/P     rs76157638     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008426  p.Thr901Ala    LB/B     rs61754030     -
ABCA4     P78363     VAR_008427  p.Val931Met    LP/P     rs58331765     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008428  p.Arg943Gln    LB/B     rs1801581      -
ABCA4     P78363     VAR_008429  p.Gln957Arg    LP/P     rs61749448     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008430  p.Asn965Ser    LP/P     rs201471607    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008431  p.Gly978Cys    LP/P     rs61749452     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008432  p.Glu1036Lys   LP/P     rs61750061     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008433  p.Ala1038Val   LP/P     rs61751374     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008433  p.Ala1038Val   LP/P     rs61751374     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008433  p.Ala1038Val   LP/P     rs61751374     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008434  p.Ser1071Leu   LP/P     rs61750065     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008435  p.Val1072Ala   LP/P     -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008436  p.Glu1087Lys   LP/P     rs61751398     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008437  p.Thr1112Asn   LP/P     rs61750122     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008438  p.Glu1122Lys   LP/P     rs61751399     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008438  p.Glu1122Lys   LP/P     rs61751399     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008439  p.Arg1129Leu   LP/P     rs1801269      Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008439  p.Arg1129Leu   LP/P     rs1801269      Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008440  p.Leu1201Arg   LP/P     rs61750126     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008441  p.Asp1204Asn   LP/P     rs61750127     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008442  p.Pro1314Thr   LB/B     rs61754041     -
ABCA4     P78363     VAR_008443  p.Pro1380Leu   LP/P     rs61750130     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008444  p.His1406Tyr   LP/P     rs61750133     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008445  p.Trp1408Leu   LP/P     rs61750134     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008446  p.Trp1408Arg   LP/P     rs61750135     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008447  p.Thr1428Met   LB/B     rs1800549      -
ABCA4     P78363     VAR_008448  p.Val1429Ala   LP/P     rs61752432     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008449  p.Val1433Ile   LP/P     rs56357060     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008450  p.Gly1439Asp   LP/P     rs61750140     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008451  p.Phe1440Ser   LP/P     rs61750141     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008452  p.Pro1486Leu   LP/P     rs61750145     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008453  p.Cys1488Arg   LP/P     rs61750146     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008453  p.Cys1488Arg   LP/P     rs61750146     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008454  p.Cys1490Tyr   LP/P     rs61751402     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008454  p.Cys1490Tyr   LP/P     rs61751402     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008455  p.Arg1517Ser   LP/P     rs1800550      Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008456  p.Thr1526Met   LP/P     rs61750152     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008457  p.Asp1532Asn   LP/P     rs62642574     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008458  p.Ile1562Thr   LP/P     rs1762111      Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008458  p.Ile1562Thr   LP/P     rs1762111      Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008458  p.Ile1562Thr   LP/P     rs1762111      Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008458  p.Ile1562Thr   LP/P     rs1762111      Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008459  p.Gly1578Arg   LP/P     rs1800551      Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008460  p.Leu1631Pro   LP/P     rs61750158     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008461  p.Arg1640Trp   LP/P     rs61751404     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008461  p.Arg1640Trp   LP/P     rs61751404     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008462  p.Tyr1652Asp   LP/P     rs61750560     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008463  p.Ser1696Asn   LP/P     rs61750564     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008464  p.Gln1703Lys   LP/P     -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008465  p.Leu1729Pro   LP/P     rs61750567     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008466  p.Ala1794Asp   LP/P     rs61751406     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008467  p.Arg1820Pro   LP/P     rs62646875     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008468  p.His1838Tyr   LP/P     rs62642562     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008469  p.Arg1843Trp   LP/P     rs62642576     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008470  p.Asn1868Ile   LB/B     rs1801466      -
ABCA4     P78363     VAR_008471  p.Gly1886Glu   LP/P     rs62642579     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008473  p.Arg1898His   LP/P     rs1800552      Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008473  p.Arg1898His   LP/P     rs1800552      Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008474  p.Pro1948Leu   LB/B     rs56142141     -
ABCA4     P78363     VAR_008475  p.Gly1961Glu   LP/P     rs1800553      Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008475  p.Gly1961Glu   LP/P     rs1800553      Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008476  p.Leu1970Phe   LP/P     rs28938473     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008476  p.Leu1970Phe   LP/P     rs28938473     Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008477  p.Gly1977Ser   LP/P     rs61750639     Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008477  p.Gly1977Ser   LP/P     rs61750639     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008478  p.Leu2027Phe   LP/P     rs61751408     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008478  p.Leu2027Phe   LP/P     rs61751408     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008480  p.Arg2030Gln   LP/P     rs61750641     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008480  p.Arg2030Gln   LP/P     rs61750641     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008481  p.Val2050Leu   LP/P     rs41292677     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008482  p.Arg2077Trp   LP/P     rs61750645     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008483  p.Glu2096Lys   LP/P     rs61750646     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008484  p.Arg2106Cys   LP/P     rs61750648     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008484  p.Arg2106Cys   LP/P     rs61750648     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008485  p.Arg2107His   LP/P     rs62642564     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008486  p.His2128Arg   LP/P     rs61750651     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008487  p.Glu2131Lys   LP/P     rs61750652     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008488  p.Arg2139Trp   LP/P     rs61750653     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008489  p.Cys2150Tyr   LP/P     rs61751384     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008489  p.Cys2150Tyr   LP/P     rs61751384     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008490  p.Lys2160Arg   LP/P     rs281865405    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008491  p.Asp2177Asn   LB/B     rs1800555      -
ABCA4     P78363     VAR_008492  p.Ala60Val     LP/P     rs55732384     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008493  p.Asp846His    LB/B     rs61754027     -
ABCA4     P78363     VAR_008494  p.Ile1846Thr   LB/B     rs61750575     -
ABCA4     P78363     VAR_008495  p.Arg2038Trp   LP/P     rs61750643     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_009157  p.Ser2255Ile   LB/B     rs6666652      -
ABCA4     P78363     VAR_012493  p.Leu11Pro     LP/P     rs62645946     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012495  p.Asn58Lys     LP/P     rs61748524     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012496  p.Ala60Glu     LP/P     -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012497  p.Ala60Thr     LP/P     rs61751411     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012498  p.Pro68Leu     LP/P     rs62654397     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012499  p.Pro68Arg     LP/P     rs62654397     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012500  p.Gly72Arg     LP/P     rs61751412     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012501  p.Val77Glu     LP/P     rs61748527     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012502  p.Ser100Pro    LP/P     rs61748530     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012503  p.Arg152Gln    LB/B     rs62646862     -
ABCA4     P78363     VAR_012504  p.Ile156Val    LP/P     rs62646863     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012505  p.Gln190His    LP/P     rs281865397    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012506  p.Ser206Arg    LP/P     rs61748536     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012507  p.Arg212His    LB/B     rs6657239      -
ABCA4     P78363     VAR_012508  p.Arg220Cys    LP/P     rs61748538     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012509  p.Cys230Ser    LP/P     rs1057518767   Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012510  p.Leu244Pro    LP/P     rs62646864     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012511  p.Asn247Ser    LP/P     rs62645950     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012512  p.Pro309Arg    LP/P     rs61748545     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012513  p.Glu328Val    LP/P     rs61751419     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012514  p.Arg333Trp    LP/P     rs61748546     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012515  p.Trp339Gly    LP/P     rs61751420     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012516  p.Asn380Lys    LP/P     rs61748549     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012517  p.His423Arg    LB/B     rs3112831      -
ABCA4     P78363     VAR_012518  p.Phe525Cys    LP/P     -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012519  p.Arg537Cys    LP/P     rs61748556     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012520  p.Ala549Pro    LP/P     rs61748557     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012521  p.Gly550Arg    LP/P     rs61748558     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012522  p.Val552Ile    LB/B     rs145525174    -
ABCA4     P78363     VAR_012523  p.Arg602Gln    LP/P     rs61749410     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012524  p.Gly607Arg    LP/P     rs61749412     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012525  p.Gly607Trp    LP/P     rs61749412     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012526  p.Gln635Lys    LP/P     rs61749414     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012527  p.Gln636His    LP/P     rs61752400     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012528  p.Val643Met    LP/P     rs61749417     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012529  p.Arg653Cys    LP/P     rs61749420     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012530  p.Leu686Ser    LP/P     rs61752402     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012531  p.Thr716Met    LP/P     rs61749426     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012532  p.Cys764Tyr    LP/P     rs61749428     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012533  p.Ser765Arg    LP/P     rs61752404     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012534  p.Ser765Asn    LP/P     rs61749429     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012535  p.Val767Asp    LP/P     rs61751395     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012536  p.Leu797Pro    LP/P     rs61749432     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012537  p.Ile824Thr    LP/P     -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012538  p.Val849Ala    LP/P     rs61749435     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012539  p.Ala854Thr    LP/P     rs61749437     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012541  p.Phe873Leu    LP/P     rs62642570     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012542  p.Thr897Ile    LP/P     rs61749440     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012543  p.His914Arg    LB/B     -              -
ABCA4     P78363     VAR_012544  p.Val935Ala    LP/P     rs61749444     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012545  p.Arg943Trp    LP/P     rs61749446     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012545  p.Arg943Trp    LP/P     rs61749446     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012546  p.Thr959Ile    LP/P     rs61752409     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012547  p.Thr971Asn    LP/P     rs61749450     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012548  p.Thr972Asn    US       rs61749451     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012549  p.Ser974Pro    LP/P     rs281865400    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012550  p.Val989Ala    LP/P     rs61749454     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012551  p.Gly991Arg    LP/P     rs61749455     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012552  p.Leu1014Arg   LP/P     rs61749456     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012553  p.Thr1019Ala   LP/P     rs61749457     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012554  p.Thr1019Met   LP/P     rs201855602    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012555  p.Glu1022Lys   LP/P     rs61749459     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012556  p.Lys1031Glu   LP/P     rs61750060     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012557  p.Arg1055Trp   LP/P     rs61752412     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012558  p.Ser1063Pro   LP/P     rs61752413     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012559  p.Glu1087Asp   LP/P     rs61752416     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012560  p.Gly1091Glu   LP/P     rs61752417     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012561  p.Arg1097Cys   LP/P     -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012562  p.Arg1108Cys   LP/P     rs61750120     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012562  p.Arg1108Cys   LP/P     rs61750120     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012563  p.Arg1108His   LP/P     rs61750121     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012564  p.Arg1108Leu   LP/P     rs61750121     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012565  p.Arg1129Cys   LP/P     rs779426136    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012566  p.Lys1148Thr   LB/B     -              -
ABCA4     P78363     VAR_012567  p.Leu1250Pro   LP/P     rs61750128     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012568  p.Thr1253Met   US       rs61752424     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012569  p.Arg1300Gln   LP/P     rs61750129     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012570  p.Leu1388Pro   LP/P     rs61750131     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012571  p.Glu1399Lys   LP/P     rs62642573     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012572  p.Leu1430Pro   LP/P     -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012573  p.Phe1440Val   LP/P     rs61752433     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012574  p.Arg1443His   LP/P     rs61750142     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012575  p.Cys1488Phe   LP/P     rs61750147     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012576  p.Cys1488Tyr   LP/P     rs61750147     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012577  p.Gly1508Cys   LP/P     -              Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012578  p.Gln1513Arg   LP/P     rs281865402    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012579  p.Leu1525Pro   LP/P     rs61750151     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012580  p.Thr1537Met   LP/P     rs62642575     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012581  p.Ala1598Asp   LP/P     rs61750155     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_012582  p.Ala1637Thr   LB/B     rs61754056     -
ABCA4     P78363     VAR_012583  p.Arg1640Gln   LP/P     rs61751403     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_012583  p.Arg1640Gln   LP/P     rs61751403     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012583  p.Arg1640Gln   LP/P     rs61751403     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012585  p.Ser1689Pro   LP/P     rs61753020     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012586  p.Val1693Ile   LP/P     rs61750563     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012587  p.Arg1705Leu   LP/P     rs61753021     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012588  p.Met1733Thr   LP/P     rs765563320    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012589  p.Ser1736Pro   LP/P     rs61750568     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012590  p.Gly1748Arg   LP/P     rs61753025     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012592  p.Leu1763Pro   LP/P     rs61753028     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012593  p.Pro1776Leu   LP/P     rs281865404    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012594  p.Pro1780Ala   LP/P     rs121909207    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012595  p.Asn1799Asp   LP/P     rs61750574     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012596  p.Asn1805Asp   LP/P     rs61753029     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012597  p.Glu1817Asp   LB/B     -              -
ABCA4     P78363     VAR_012598  p.Val1884Glu   LP/P     rs62642578     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012599  p.Glu1885Lys   LP/P     rs62642563     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012600  p.Val1896Asp   LP/P     rs61750636     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012601  p.Val1921Met   LB/B     rs61753032     -
ABCA4     P78363     VAR_012602  p.Leu1940Pro   LP/P     rs61753033     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012602  p.Leu1940Pro   LP/P     rs61753033     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012603  p.Leu1971Arg   LP/P     rs61753034     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012604  p.Gly1975Arg   LP/P     rs61753036     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012605  p.Leu2035Pro   LP/P     rs61750642     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012606  p.Gly2059Ala   LB/B     -              -
ABCA4     P78363     VAR_012607  p.Leu2060Arg   LP/P     rs61753039     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_012608  p.Tyr2071Phe   LP/P     -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012609  p.Arg2077Gly   LP/P     rs61750645     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012610  p.Arg2107Cys   LP/P     rs2297669      Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012611  p.Gly2146Asp   LP/P     rs61753044     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_012612  p.Arg2149Leu   LP/P     rs61750655     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012613  p.Cys2150Arg   LP/P     rs61750656     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012614  p.Ala2216Val   LB/B     rs886044763    -
ABCA4     P78363     VAR_012615  p.Leu2229Pro   LP/P     rs61750659     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012616  p.Leu2241Val   LP/P     rs61748521     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012617  p.Arg2263Leu   LP/P     rs281865407    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_014703  p.Ser752Ile    LB/B     rs1801369      -
ABCA4     P78363     VAR_035736  p.Thr224Met    US       rs373540612    A breast cancer sample
ABCA4     P78363     VAR_067427  p.Ala762Glu    LP/P     -              Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_067428  p.Trp1724Cys   LP/P     -              Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_067429  p.Ile2047Asn   LP/P     -              Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_067430  p.Cys2137Tyr   LP/P     -              Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA5     Q8WWZ7     VAR_027571  p.Gln93Lys     LB/B     rs12383        -
ABCA5     Q8WWZ7     VAR_027572  p.Gln484Arg    LB/B     rs17686569     -
ABCA5     Q8WWZ7     VAR_027573  p.Met753Val    LB/B     rs9898003      -
ABCA5     Q8WWZ7     VAR_027574  p.Ala832Ser    LB/B     rs536009       -
ABCA5     Q8WWZ7     VAR_027575  p.Met960Val    LB/B     rs557491       -
ABCA5     Q8WWZ7     VAR_048128  p.Ala178Thr    LB/B     rs11544715     -
ABCA5     Q8WWZ7     VAR_048129  p.Asp1260Gly   LB/B     rs11544716     -
ABCA6     Q8N139     VAR_027576  p.Val282Ile    LB/B     rs4968839      -
ABCA6     Q8N139     VAR_027577  p.Asn610Tyr    LB/B     rs9282554      -
ABCA6     Q8N139     VAR_027578  p.Met698Ile    LB/B     rs9282553      -
ABCA6     Q8N139     VAR_027579  p.Met875Ile    LB/B     rs7212506      -
ABCA6     Q8N139     VAR_027580  p.Asn1322Ser   LB/B     rs2302134      -
ABCA7     Q8IZY2     VAR_027581  p.Glu188Gly    LB/B     rs3764645      -
ABCA7     Q8IZY2     VAR_027582  p.Thr319Ala    LB/B     rs3752232      -
ABCA7     Q8IZY2     VAR_027583  p.His395Arg    LB/B     rs3764647      -
ABCA7     Q8IZY2     VAR_027584  p.Arg463His    LB/B     rs3752233      -
ABCA7     Q8IZY2     VAR_027585  p.Asn718Thr    LB/B     rs3752239      -
ABCA7     Q8IZY2     VAR_027586  p.Arg1349Gln   LB/B     rs3745842      -
ABCA7     Q8IZY2     VAR_027587  p.Gly1527Ala   LB/B     rs3752246      -
ABCA7     Q8IZY2     VAR_027588  p.Gln1686Arg   LB/B     rs4147918      -
ABCA7     Q8IZY2     VAR_027589  p.Ala2045Ser   LB/B     rs4147934      -
ABCA7     Q8IZY2     VAR_060985  p.Ala676Thr    LB/B     rs59851484     -
ABCA7     Q8IZY2     VAR_081204  p.Arg880Gln    LP/P     rs143718918    Alzheimer disease 9 (AD9) [MIM:608907]
ABCA8     O94911     VAR_027590  p.Thr256Ala    LB/B     rs16973446     -
ABCA8     O94911     VAR_027591  p.Gly331Ser    LB/B     rs4147979      -
ABCA8     O94911     VAR_027592  p.Tyr489Phe    LB/B     rs12150510     -
ABCA8     O94911     VAR_027593  p.Cys720Gly    LB/B     rs16973424     -
ABCA8     O94911     VAR_048130  p.Ala416Val    LB/B     rs35621847     -
ABCA8     O94911     VAR_048131  p.Leu659Arg    LB/B     rs35844316     -
ABCA8     O94911     VAR_048132  p.Gly1470Ser   LB/B     rs35403175     -
ABCA8     O94911     VAR_084139  p.Pro649Arg    LB/B     rs144777539    -
ABCA9     Q8IUA7     VAR_027594  p.Arg353His    LB/B     rs1860447      -
ABCA9     Q8IUA7     VAR_027595  p.Asn785Ser    LB/B     rs17684521     -
ABCA9     Q8IUA7     VAR_027596  p.Lys1306Thr   LB/B     rs2302294      -
ABCA9     Q8IUA7     VAR_027597  p.Gly1356Ser   LB/B     rs9916254      -
ABCB1     P08183     VAR_013361  p.Ser893Ala    LB/B     rs2032582      -
ABCB1     P08183     VAR_013362  p.Ser893Thr    LB/B     rs2032582      -
ABCB1     P08183     VAR_014704  p.Asn21Asp     LB/B     rs9282564      -
ABCB1     P08183     VAR_015001  p.Phe103Leu    LB/B     -              -
ABCB1     P08183     VAR_015002  p.Gly185Val    LB/B     rs1128501      -
ABCB1     P08183     VAR_015003  p.Ser400Asn    LB/B     rs2229109      -
ABCB1     P08183     VAR_015004  p.Ala999Thr    LB/B     rs72552784     -
ABCB1     P08183     VAR_015005  p.Gln1107Pro   LB/B     rs55852620     -
ABCB1     P08183     VAR_018351  p.Glu108Lys    LB/B     -              -
ABCB1     P08183     VAR_018352  p.Met986Val    LB/B     rs926081975    -
ABCB1     P08183     VAR_018353  p.Val1251Ile   LB/B     rs28364274     -
ABCB1     P08183     VAR_022276  p.Phe17Leu     LB/B     rs28381804     -
ABCB1     P08183     VAR_022277  p.Glu566Lys    LB/B     rs28381902     -
ABCB1     P08183     VAR_022278  p.Arg593Cys    LB/B     rs28381914     -
ABCB1     P08183     VAR_022279  p.Ile836Val    LB/B     rs28381967     -
ABCB1     P08183     VAR_022280  p.Pro1051Ala   LB/B     rs28401798     -
ABCB1     P08183     VAR_022281  p.Ser1141Thr   LB/B     rs2229107      -
ABCB1     P08183     VAR_035737  p.Lys887Asn    US       -              A colorectal cancer sample
ABCB1     P08183     VAR_055423  p.Asn44Ser     LB/B     rs1202183      -
ABCB1     P08183     VAR_055424  p.Ala80Glu     LB/B     rs9282565      -
ABCB1     P08183     VAR_055425  p.Ile261Val    LB/B     rs36008564     -
ABCB1     P08183     VAR_055426  p.Ala599Thr    LB/B     rs2235036      -
ABCB1     P08183     VAR_055427  p.Arg669Cys    LB/B     rs35023033     -
ABCB1     P08183     VAR_055428  p.Val801Met    LB/B     rs2235039      -
ABCB1     P08183     VAR_055429  p.Ile829Val    LB/B     rs2032581      -
ABCB10    Q9NRK6     VAR_013702  p.Ala150Ser    LB/B     rs4148756      -
ABCB10    Q9NRK6     VAR_031435  p.Asp545Asn    LB/B     rs35698797     -
ABCB10    Q9NRK6     VAR_035735  p.Arg471Thr    US       -              A breast cancer sample
ABCB10    Q9NRK6     VAR_048133  p.Arg242Gly    LB/B     rs17584642     -
ABCB11    O95342     VAR_010271  p.Glu297Gly    LP/P     rs11568372     Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_010271  p.Glu297Gly    LP/P     rs11568372     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013332  p.Val284Leu    LP/P     -              Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013333  p.Val444Ala    LB/B     rs2287622      -
ABCB11    O95342     VAR_013334  p.Lys461Glu    LP/P     rs1274558905   Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013335  p.Asp482Gly    LP/P     rs72549402     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013336  p.Gly982Arg    LP/P     rs72549399     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013337  p.Gly1004Asp   LP/P     -              Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013338  p.Arg1153Cys   LP/P     rs72549395     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013339  p.Arg1268Gln   LP/P     rs72549394     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_030386  p.Glu186Gly    LP/P     rs72551307     Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030387  p.Ile206Val    LB/B     rs11568357     -
ABCB11    O95342     VAR_030388  p.Gly238Val    LP/P     rs72551306     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_030389  p.Arg299Lys    LB/B     rs2287617      -
ABCB11    O95342     VAR_030390  p.Cys336Ser    LP/P     rs72551305     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_030391  p.Arg432Thr    LP/P     rs121908935    Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030392  p.Ala570Thr    LP/P     rs886043807    Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030393  p.Met677Val    LB/B     rs11568364     -
ABCB11    O95342     VAR_030394  p.Thr923Pro    LP/P     rs777469571    Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030395  p.Ala926Pro    LP/P     rs72549400     Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030396  p.Arg1050Cys   LP/P     rs72549398     Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030397  p.Arg1128His   LP/P     rs756220860    Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030398  p.Glu1186Lys   LB/B     rs1521808      -
ABCB11    O95342     VAR_035349  p.Val284Ala    LB/B     rs200739891    -
ABCB11    O95342     VAR_035350  p.Arg616Gly    LB/B     -              -
ABCB11    O95342     VAR_035351  p.Thr619Ala    LB/B     rs912519986    -
ABCB11    O95342     VAR_035352  p.Arg698His    LB/B     rs138642043    -
ABCB11    O95342     VAR_035353  p.Ala865Val    LB/B     rs118109635    -
ABCB11    O95342     VAR_035354  p.Arg958Gln    LB/B     rs761363245    -
ABCB11    O95342     VAR_043074  p.Arg415Gln    LB/B     rs371656014    -
ABCB11    O95342     VAR_043075  p.Asn591Ser    LB/B     rs11568367     -
ABCB11    O95342     VAR_043076  p.Asp676Tyr    US       -              -
ABCB11    O95342     VAR_043077  p.Gly855Arg    US       -              -
ABCB11    O95342     VAR_055472  p.Ser56Leu     LB/B     rs11568361     -
ABCB11    O95342     VAR_059106  p.Val444Asp    LB/B     rs2287622      -
ABCB11    O95342     VAR_059107  p.Val444Gly    LB/B     rs2287622      -
ABCB11    O95342     VAR_073967  p.Tyr337His    US       -              Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_073968  p.Tyr472Cys    LP/P     rs369860506    Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_073969  p.Arg696Trp    US       rs376216286    Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_073970  p.Gln931Pro    US       -              Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_073971  p.Asp1131Val   LP/P     -              Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_073972  p.His1198Arg   US       -              Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_083783  p.Cys129Tyr    LP/P     -              Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_083784  p.Gln558His    LB/B     rs11568369     -
ABCB11    O95342     VAR_083785  p.Glu592Gln    LB/B     rs11568370     -
ABCB4     P21439     VAR_020223  p.Leu238Val    LB/B     rs45596335     -
ABCB4     P21439     VAR_020225  p.Arg652Gly    LB/B     rs2230028      -
ABCB4     P21439     VAR_023501  p.Thr175Ala    US       rs58238559     -
ABCB4     P21439     VAR_023502  p.Ser320Phe    US       rs72552778     Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4     P21439     VAR_023502  p.Ser320Phe    US       rs72552778     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_023502  p.Ser320Phe    US       rs72552778     Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_023503  p.Ala546Asp    LP/P     rs121918441    Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4     P21439     VAR_023504  p.Pro1168Ser   LP/P     rs121918442    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_024359  p.Arg788Gln    LB/B     rs8187801      Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_030763  p.Ile263Val    LB/B     rs45547936     -
ABCB4     P21439     VAR_030765  p.Thr651Asn    LB/B     rs45476795     -
ABCB4     P21439     VAR_043078  p.Asp87Glu     LB/B     -              -
ABCB4     P21439     VAR_043079  p.Pro95Ser     LB/B     rs377268767    -
ABCB4     P21439     VAR_043080  p.Trp138Arg    LP/P     rs72552781     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043081  p.Arg150Lys    LP/P     rs757693457    Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4     P21439     VAR_043082  p.Phe165Ile    LP/P     -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043083  p.Met301Thr    LP/P     rs72552779     Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043084  p.Ser346Ile    LP/P     rs67876345     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043085  p.Ile367Val    LB/B     rs1168923653   -
ABCB4     P21439     VAR_043086  p.Glu395Gly    LP/P     rs72552777     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043087  p.Thr424Ala    LP/P     rs1263565476   Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043088  p.Val425Met    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043089  p.Glu450Gly    LB/B     rs1189003716   -
ABCB4     P21439     VAR_043090  p.Glu528Asp    US       rs8187797      Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043091  p.Gly535Asp    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043092  p.Ile541Phe    LP/P     rs66904256     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043092  p.Ile541Phe    LP/P     rs66904256     Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043093  p.Leu556Arg    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043094  p.Asp564Gly    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043095  p.Arg590Gln    US       rs45575636     -
ABCB4     P21439     VAR_043096  p.Leu591Gln    LP/P     rs72552776     Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043097  p.Phe711Ser    LP/P     rs72552773     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043098  p.Gly742Ser    LB/B     -              -
ABCB4     P21439     VAR_043099  p.Gly762Glu    LP/P     -              Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4     P21439     VAR_043100  p.Ile764Leu    US       -              -
ABCB4     P21439     VAR_043101  p.Thr775Met    US       rs148052192    -
ABCB4     P21439     VAR_043102  p.Ala934Thr    US       rs61730509     -
ABCB4     P21439     VAR_043103  p.Gly983Ser    LP/P     rs56187107     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043104  p.Leu1082Gln   LB/B     rs1214110864   -
ABCB4     P21439     VAR_073728  p.Thr34Met     LP/P     rs142794414    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073729  p.Arg47Gly     LP/P     -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073730  p.Arg47Gln     US       rs372685632    -
ABCB4     P21439     VAR_073731  p.Gly68Arg     LP/P     rs1343667900   Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073732  p.Gly70Arg     LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073733  p.Leu71His     LP/P     rs780641693    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073734  p.Leu73Val     LP/P     rs8187788      Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073734  p.Leu73Val     LP/P     rs8187788      Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073735  p.Phe78Cys     LP/P     rs1411970557   Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073736  p.Ser99Phe     LP/P     rs1408217402   Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073737  p.Gly124Ser    LP/P     -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073738  p.Gly126Glu    LP/P     rs1021988376   Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073739  p.Phe154Ser    LP/P     -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073740  p.Thr201Met    LP/P     rs753318087    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073741  p.Ala250Pro    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073742  p.Ala286Val    LP/P     rs765478923    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073742  p.Ala286Val    LP/P     rs765478923    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073743  p.Phe357Leu    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073744  p.Ala364Val    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073745  p.Tyr403His    LP/P     rs121918443    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073746  p.Arg406Gly    LP/P     -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073747  p.Arg406Gln    US       rs763807769    -
ABCB4     P21439     VAR_073748  p.Asp459His    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073749  p.Val475Ala    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073750  p.Pro479Leu    LP/P     rs748657435    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073751  p.Leu481Arg    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073752  p.Asn510Ser    LP/P     rs375315619    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073753  p.Ala511Thr    LP/P     rs1257887155   Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073753  p.Ala511Thr    LP/P     rs1257887155   Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073754  p.Glu513Lys    LP/P     -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073755  p.Arg545His    LP/P     -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073756  p.Arg549His    LP/P     rs761238221    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073757  p.Glu558Lys    LP/P     rs1562975478   Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073758  p.His589Thr    LP/P     -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073759  p.Thr593Ala    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073760  p.Thr593Met    LP/P     rs571555115    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073761  p.Met630Val    LP/P     rs372476723    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073762  p.Glu647Lys    LP/P     rs972726699    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073763  p.Leu701Pro    LP/P     rs988987669    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073764  p.Thr715Ile    LP/P     rs138773456    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073765  p.Gly723Glu    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073766  p.Pro726Leu    LP/P     rs141677867    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073767  p.Pro726Thr    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073768  p.Ser729Leu    LP/P     rs970324585    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073769  p.Ala737Val    LP/P     rs147134978    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073770  p.Ala840Asp    LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073771  p.Gly954Ser    LP/P     rs779829759    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073772  p.Val964Thr    US       -              -
ABCB4     P21439     VAR_073773  p.Leu975Val    LP/P     rs759787957    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073774  p.Ser978Pro    LP/P     rs1051861187   Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073775  p.Arg1084Trp   LP/P     rs1262922848   Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073776  p.Glu1125Lys   LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073777  p.Ala1193Thr   LP/P     -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_079611  p.Gly536Arg    LP/P     -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_079612  p.Ser1183Leu   LP/P     -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_079613  p.Gly1185Ser   LP/P     -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB5     Q2M3G0     VAR_028387  p.Lys560Glu    LB/B     rs2301641      -
ABCB5     Q2M3G0     VAR_028388  p.Lys669Arg    LB/B     rs13222448     -
ABCB5     Q2M3G0     VAR_028389  p.Ala915Thr    LB/B     rs17143304     -
ABCB5     Q2M3G0     VAR_028390  p.Glu970Lys    LB/B     rs6461515      -
ABCB5     Q2M3G0     VAR_033456  p.Gln905His    LB/B     rs35885925     -
ABCB5     Q2M3G0     VAR_035731  p.Glu675Val    US       -              A colorectal cancer sample
ABCB5     Q2M3G0     VAR_062662  p.Ala880Thr    US       rs1187237313   A pancreatic ductal adenocarcinoma sample
ABCB6     Q9NP58     VAR_029749  p.Arg648Gln    LB/B     rs13402964     -
ABCB6     Q9NP58     VAR_035732  p.Arg69Gly     US       -              A breast cancer sample
ABCB6     Q9NP58     VAR_047552  p.Leu293Val    LB/B     rs13018440     -
ABCB6     Q9NP58     VAR_060986  p.Arg343Gln    LB/B     rs60322991     -
ABCB6     Q9NP58     VAR_067394  p.Ala57Thr     US       rs387906911    Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]
ABCB6     Q9NP58     VAR_067395  p.Leu811Val    LP/P     rs387906910    Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]
ABCB6     Q9NP58     VAR_070602  p.Ser170Gly    LP/P     rs397514757    Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_070603  p.Leu356Pro    LP/P     rs397514756    Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_070604  p.Gly579Glu    LP/P     rs397514758    Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_071133  p.Arg375Gln    LP/P     rs754667801    Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153]
ABCB6     Q9NP58     VAR_071134  p.Arg375Trp    LP/P     rs764893806    Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153]
ABCB6     Q9NP58     VAR_071135  p.Ala453Val    LP/P     -              Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_071136  p.Gln555Lys    LP/P     rs796065353    Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_073973  p.Ser322Arg    LP/P     -              Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_073974  p.Tyr424His    LP/P     -              Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_076206  p.Arg723Gln    LP/P     rs148211042    Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153]
ABCB7     O75027     VAR_009156  p.Ile400Met    LP/P     rs72554634     Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB7     O75027     VAR_012640  p.Glu433Lys    LP/P     rs80356714     Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB7     O75027     VAR_022872  p.Arg315Gly    LB/B     -              -
ABCB7     O75027     VAR_022873  p.Phe346Ile    LB/B     -              -
ABCB7     O75027     VAR_022874  p.Val411Leu    LP/P     rs80356713     Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB7     O75027     VAR_037972  p.Val581Ala    LB/B     rs1340989      -
ABCB7     O75027     VAR_055471  p.Ala580Val    LB/B     rs1340989      -
ABCB7     O75027     VAR_067354  p.Glu208Asp    LP/P     rs515726147    Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB8     Q9NUT2     VAR_013331  p.Val152Ile    LB/B     rs4148844      -
ABCB8     Q9NUT2     VAR_035733  p.Ile165Thr    US       -              A breast cancer sample
ABCB8     Q9NUT2     VAR_035734  p.Ala690Gly    US       -              A breast cancer sample
ABCB9     Q9NP78     VAR_013701  p.Val121Met    LB/B     rs3803002      -
ABCC1     P33527     VAR_011488  p.Arg633Gln    LB/B     rs112282109    -
ABCC1     P33527     VAR_011489  p.Gly671Val    LB/B     rs45511401     -
ABCC1     P33527     VAR_013317  p.Cys43Ser     LB/B     rs41395947     -
ABCC1     P33527     VAR_013318  p.Thr73Ile     LB/B     rs41494447     -
ABCC1     P33527     VAR_013319  p.Met117Thr    LB/B     -              -
ABCC1     P33527     VAR_013320  p.Arg433Ser    LB/B     rs60782127     -
ABCC1     P33527     VAR_013321  p.Arg723Gln    LB/B     rs4148356      -
ABCC1     P33527     VAR_013322  p.Arg1058Gln   LB/B     rs41410450     -
ABCC1     P33527     VAR_013323  p.Ser1512Leu   LB/B     rs369410659    -
ABCC1     P33527     VAR_055384  p.Ala861Thr    LB/B     rs45517537     -
ABCC1     P33527     VAR_055385  p.Cys1047Ser   LB/B     rs13337489     -
ABCC1     P33527     VAR_055386  p.Val1146Ile   LB/B     rs28706727     -
ABCC1     P33527     VAR_083988  p.Gly231Asp    US       -              Deafness, autosomal dominant, 77 (DFNA77) [MIM:618915]
ABCC1     P33527     VAR_083989  p.Trp242Cys    LB/B     -              -
ABCC1     P33527     VAR_083990  p.Glu296Val    US       -              Deafness, autosomal dominant, 77 (DFNA77) [MIM:618915]
ABCC1     P33527     VAR_083991  p.Asn590Ser    LP/P     -              Deafness, autosomal dominant, 77 (DFNA77) [MIM:618915]
ABCC1     P33527     VAR_083992  p.Val886Ile    LB/B     -              -
ABCC1     P33527     VAR_083993  p.Gly1007Arg   LB/B     -              -
ABCC1     P33527     VAR_083994  p.Met1086Thr   LB/B     -              -
ABCC10    Q5T3U5     VAR_028391  p.Ile948Thr    LB/B     rs2125739      -
ABCC11    Q96J66     VAR_025437  p.Arg19His     LB/B     rs16945988     -
ABCC11    Q96J66     VAR_025438  p.Gly180Arg    LB/B     rs17822931     -
ABCC11    Q96J66     VAR_048144  p.Ala317Glu    LB/B     rs11863236     -
ABCC11    Q96J66     VAR_048145  p.Thr546Met    LB/B     rs17822471     -
ABCC11    Q96J66     VAR_048146  p.Val648Ile    LB/B     rs16945930     -
ABCC11    Q96J66     VAR_048147  p.Val687Ile    LB/B     rs16945928     -
ABCC11    Q96J66     VAR_048148  p.Lys735Arg    LB/B     rs16945926     -
ABCC11    Q96J66     VAR_048149  p.His1344Arg   LB/B     rs16945916     -
ABCC11    Q96J66     VAR_077575  p.Arg630Trp    LB/B     rs41282045     -
ABCC11    Q96J66     VAR_077576  p.Met970Val    LB/B     rs41280943     -
ABCC12    Q96J65     VAR_028392  p.Ile9Leu      LB/B     rs16945901     -
ABCC12    Q96J65     VAR_028393  p.Ala102Glu    LB/B     rs16945874     -
ABCC12    Q96J65     VAR_028394  p.Asn587Tyr    LB/B     rs16945816     -
ABCC12    Q96J65     VAR_028395  p.Lys894Met    LB/B     rs8057474      -
ABCC12    Q96J65     VAR_028396  p.Thr989Ser    LB/B     rs6500305      -
ABCC12    Q96J65     VAR_028397  p.Tyr1013His   LB/B     rs6500304      -
ABCC12    Q96J65     VAR_028398  p.Arg1117Cys   LB/B     rs7193955      -
ABCC12    Q96J65     VAR_028399  p.Glu1191Ala   LB/B     rs16945787     -
ABCC12    Q96J65     VAR_028400  p.Phe1349Leu   LB/B     rs12373105     -
ABCC12    Q96J65     VAR_048139  p.Glu690Val    LB/B     rs34135219     -
ABCC12    Q96J65     VAR_048140  p.Ile1187Thr   LB/B     rs34106426     -
ABCC2     Q92887     VAR_000099  p.Arg768Trp    LP/P     rs56199535     Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2     Q92887     VAR_010756  p.Gln1382Arg   LP/P     rs72558202     Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2     Q92887     VAR_013324  p.Ser281Asn    LB/B     rs56131651     -
ABCC2     Q92887     VAR_013325  p.Val417Ile    LB/B     rs2273697      -
ABCC2     Q92887     VAR_013326  p.Ser789Phe    LB/B     rs56220353     -
ABCC2     Q92887     VAR_013327  p.Arg1150His   LP/P     rs72558200     Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2     Q92887     VAR_013328  p.Ile1173Phe   LP/P     rs72558201     Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2     Q92887     VAR_013330  p.Ala1450Thr   LB/B     rs56296335     -
ABCC2     Q92887     VAR_020226  p.Asp333Gly    LB/B     rs17222674     -
ABCC2     Q92887     VAR_020227  p.Arg353His    LB/B     rs7080681      -
ABCC2     Q92887     VAR_020228  p.Ile670Thr    LB/B     rs17222632     -
ABCC2     Q92887     VAR_020229  p.Leu849Arg    LB/B     rs17222617     -
ABCC2     Q92887     VAR_020230  p.Ile1036Thr   LB/B     rs45441199     -
ABCC2     Q92887     VAR_020231  p.Arg1181Leu   LB/B     rs8187692      -
ABCC2     Q92887     VAR_020232  p.Val1188Glu   LB/B     rs17222723     -
ABCC2     Q92887     VAR_020233  p.Pro1291Leu   LB/B     rs17216317     -
ABCC2     Q92887     VAR_020234  p.Cys1515Tyr   LB/B     rs8187710      -
ABCC2     Q92887     VAR_024360  p.Thr1273Ala   LB/B     rs8187699      -
ABCC2     Q92887     VAR_029113  p.Met246Leu    LB/B     rs17222744     -
ABCC2     Q92887     VAR_029115  p.Lys495Glu    LB/B     rs17222561     -
ABCC2     Q92887     VAR_029116  p.Phe562Leu    LB/B     rs17216233     -
ABCC2     Q92887     VAR_029117  p.Ile982Val    LB/B     rs17222554     -
ABCC2     Q92887     VAR_029118  p.Asn1063Ser   LB/B     rs17222540     -
ABCC2     Q92887     VAR_047152  p.Tyr39Phe     LB/B     rs927344       -
ABCC2     Q92887     VAR_070607  p.Thr486Ile    LB/B     rs17222589     -
ABCC2     Q92887     VAR_070608  p.Gly921Ser    LB/B     rs41318029     -
ABCC2     Q92887     VAR_070609  p.Arg1174His   LB/B     rs139188247    -
ABCC2     Q92887     VAR_070610  p.Asn1244Lys   LB/B     rs757141905    -
ABCC3     O15438     VAR_020235  p.Ser346Phe    LB/B     rs11568605     -
ABCC3     O15438     VAR_020237  p.Arg1297His   LB/B     rs11568591     -
ABCC3     O15438     VAR_020239  p.Gln1365Arg   LB/B     rs11568590     -
ABCC3     O15438     VAR_020240  p.Arg1381Ser   LB/B     rs45461799     -
ABCC3     O15438     VAR_029119  p.Gly11Asp     LB/B     rs11568609     -
ABCC3     O15438     VAR_029120  p.Arg1286Gly   LB/B     rs11568593     -
ABCC3     O15438     VAR_084161  p.Leu548Gln    LB/B     rs144520783    -
ABCC4     O15439     VAR_020241  p.Met184Thr    LB/B     rs45454092     -
ABCC4     O15439     VAR_020242  p.Gly187Trp    LB/B     rs11568658     -
ABCC4     O15439     VAR_020243  p.Lys498Glu    LB/B     rs11568669     -
ABCC4     O15439     VAR_020244  p.Met744Val    LB/B     rs9282570      -
ABCC4     O15439     VAR_020245  p.Val860Met    LB/B     rs45477596     -
ABCC4     O15439     VAR_020246  p.Val900Leu    LB/B     rs45504892     -
ABCC4     O15439     VAR_022072  p.Lys304Asn    LB/B     rs2274407      -
ABCC4     O15439     VAR_022073  p.Glu757Lys    LB/B     rs3765534      -
ABCC4     O15439     VAR_029121  p.Pro78Ala     LB/B     rs11568689     -
ABCC4     O15439     VAR_029122  p.Pro403Leu    LB/B     rs11568705     -
ABCC4     O15439     VAR_029123  p.Gly487Glu    LB/B     rs11568668     -
ABCC4     O15439     VAR_029124  p.Ile625Met    LB/B     rs11568699     -
ABCC4     O15439     VAR_029125  p.Pro667Leu    LB/B     rs11568697     -
ABCC4     O15439     VAR_029126  p.Thr1142Met   LB/B     rs11568644     -
ABCC4     O15439     VAR_045684  p.Tyr556Cys    LB/B     rs753414892    -
ABCC4     O15439     VAR_045685  p.Val776Ile    LB/B     rs146708960    -
ABCC4     O15439     VAR_045686  p.Arg820Ile    LB/B     rs11568659     -
ABCC4     O15439     VAR_045687  p.Val854Phe    LB/B     rs11568694     -
ABCC4     O15439     VAR_045688  p.Ile866Val    LB/B     rs139970608    -
ABCC4     O15439     VAR_046445  p.Leu18Ile     LB/B     rs11568681     -
ABCC4     O15439     VAR_046446  p.Cys171Gly    LB/B     rs4148460      -
ABCC4     O15439     VAR_046447  p.Lys293Glu    LB/B     rs11568684     -
ABCC4     O15439     VAR_046448  p.Thr356Met    LB/B     rs11568701     -
ABCC6     O95255     VAR_011490  p.Val614Ala    LB/B     rs12931472     -
ABCC6     O95255     VAR_011491  p.Arg1114Pro   LP/P     rs63750427     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_011492  p.Arg1138Gln   LP/P     rs60791294     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_011493  p.Arg1138Trp   LP/P     rs28939701     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_011494  p.Arg1268Gln   LB/B     rs2238472      -
ABCC6     O95255     VAR_011495  p.Arg1314Trp   LP/P     rs63750759     Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_011495  p.Arg1314Trp   LP/P     rs63750759     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013364  p.Gly61Asp     LB/B     rs72657696     -
ABCC6     O95255     VAR_013365  p.Arg64Trp     LB/B     rs557180313    -
ABCC6     O95255     VAR_013366  p.Gly207Arg    LB/B     rs72657697     -
ABCC6     O95255     VAR_013367  p.Arg265Gly    LB/B     rs72657698     -
ABCC6     O95255     VAR_013368  p.Lys281Glu    LB/B     rs4780606      -
ABCC6     O95255     VAR_013369  p.Ile319Val    LB/B     rs72657699     -
ABCC6     O95255     VAR_013370  p.Thr364Arg    LP/P     rs72653759     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013371  p.Asn411Lys    LP/P     rs9930886      Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013372  p.Ala455Pro    LP/P     rs67996819     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013373  p.Asn497Lys    LB/B     rs72653770     -
ABCC6     O95255     VAR_013374  p.Arg518Gln    LP/P     rs72653772     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013375  p.Phe568Ser    LP/P     rs66864704     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013376  p.His632Gln    LB/B     rs8058694      -
ABCC6     O95255     VAR_013377  p.Leu673Pro    LP/P     rs67470842     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013378  p.Arg765Gln    LP/P     rs67561842     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013379  p.Leu953His    LB/B     rs72657700     -
ABCC6     O95255     VAR_013380  p.Ser1121Trp   LP/P     rs63750987     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013381  p.Arg1138Pro   LP/P     rs60791294     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013382  p.Gly1203Asp   LP/P     rs63750607     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013383  p.Trp1241Cys   LB/B     rs72657701     -
ABCC6     O95255     VAR_013384  p.Val1298Phe   LP/P     rs63751325     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013385  p.Thr1301Ile   LP/P     rs63750494     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013386  p.Gly1302Arg   LP/P     rs63749856     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013387  p.Ala1303Pro   LP/P     rs63750410     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013388  p.Arg1314Gln   LP/P     rs63751086     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013389  p.Gly1321Ser   LP/P     rs63749823     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013390  p.Arg1339Cys   LP/P     rs28939702     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013391  p.Gln1347His   LP/P     rs63751111     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013392  p.Gly1354Arg   LP/P     rs63750018     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013393  p.Asp1361Asn   LP/P     rs58695352     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013394  p.Ile1424Thr   LP/P     rs63750295     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_055477  p.Val665Ala    LB/B     rs4341770      -
ABCC6     O95255     VAR_059108  p.Met848Val    LB/B     rs6416668      -
ABCC6     O95255     VAR_060988  p.Leu1097Ile   LB/B     rs60707953     -
ABCC6     O95255     VAR_067841  p.Ala78Thr     LP/P     rs2856597      Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067842  p.Glu125Lys    LP/P     rs3853814      Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067843  p.Gly129Glu    LP/P     rs72653753     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067844  p.Ala158Val    LB/B     rs2606921      -
ABCC6     O95255     VAR_067845  p.Ser317Arg    LP/P     rs78678589     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067846  p.Leu355Arg    LP/P     rs72653758     Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067846  p.Leu355Arg    LP/P     rs72653758     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067848  p.Asn370Asp    LP/P     rs72653760     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067849  p.Arg382Trp    LP/P     rs72653761     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067850  p.Arg391Gly    LP/P     rs72653762     Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067850  p.Arg391Gly    LP/P     rs72653762     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067851  p.Lys392Asn    LP/P     rs72653763     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067852  p.Ser398Gly    LP/P     rs72653764     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067853  p.Val417Met    LB/B     rs768869262    -
ABCC6     O95255     VAR_067854  p.Cys440Gly    LP/P     rs72653766     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067855  p.Leu463His    LP/P     rs72653767     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067856  p.Leu495His    LP/P     rs72653769     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067857  p.Val514Ile    LB/B     rs59157279     -
ABCC6     O95255     VAR_067858  p.Ser535Pro    LP/P     rs72653773     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067859  p.Phe551Ser    LP/P     rs72653774     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067860  p.Ser590Phe    LP/P     rs537233133    Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067861  p.Ala594Val    LP/P     rs72653776     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067862  p.Arg600Cys    LP/P     rs72653777     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067863  p.Gly663Cys    LP/P     rs72653780     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067864  p.Leu677Pro    LP/P     rs72653782     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067865  p.Gln698Pro    LP/P     rs72653783     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067866  p.Glu699Asp    LP/P     rs72653784     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067867  p.Arg724Lys    LB/B     rs58073789     -
ABCC6     O95255     VAR_067868  p.Arg724Leu    LB/B     -              -
ABCC6     O95255     VAR_067869  p.Leu726Pro    LP/P     rs72653785     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067870  p.Ile742Val    LB/B     rs59593133     -
ABCC6     O95255     VAR_067871  p.Met751Lys    LP/P     rs72653786     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067872  p.Gly755Arg    LP/P     rs72653787     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067873  p.Arg760Trp    LP/P     rs72653788     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067874  p.Ala766Asp    LP/P     rs72653789     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067875  p.Asp777Asn    LP/P     rs72653790     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067876  p.Arg807Gln    LP/P     rs72653794     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067877  p.Arg807Trp    LP/P     rs72653793     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067878  p.Val810Met    LP/P     rs72653795     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067879  p.Thr811Met    LP/P     rs72653796     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067880  p.Ala820Pro    LP/P     rs72653797     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067881  p.Arg881Ser    LP/P     rs72653800     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067882  p.Thr944Ile    LP/P     rs72653801     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067883  p.Leu946Ile    LB/B     rs61340537     -
ABCC6     O95255     VAR_067884  p.Ala950Thr    LP/P     rs72657689     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067885  p.Gly992Arg    LP/P     rs72657692     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067888  p.Asp1056Glu   LP/P     rs72657694     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067889  p.Arg1064Trp   LB/B     rs41278174     -
ABCC6     O95255     VAR_067890  p.Arg1114Cys   LP/P     rs63749794     Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067890  p.Arg1114Cys   LP/P     rs63749794     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067891  p.Ser1121Leu   LP/P     rs63750987     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067892  p.Thr1130Met   LP/P     rs63750459     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067893  p.Gly1133Ala   LP/P     rs63750473     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067894  p.Ala1139Thr   LP/P     rs63750146     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067895  p.Arg1164Gln   LP/P     rs63750457     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067896  p.Arg1221Cys   LP/P     rs63751215     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067897  p.Arg1221His   LP/P     rs63751001     Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067898  p.Leu1226Ile   LP/P     rs63750125     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067899  p.Arg1235Trp   LP/P     rs63750402     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067900  p.Asp1238His   LP/P     rs63749796     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067901  p.Leu1335Pro   LP/P     rs63750414     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067902  p.Leu1335Gln   LP/P     rs63750414     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067903  p.Arg1339Leu   LP/P     rs63750622     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067904  p.Arg1339His   LP/P     rs63750622     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067905  p.Pro1346Ser   LP/P     rs63751112     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067906  p.Arg1357Trp   LP/P     rs63750428     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067907  p.Glu1400Lys   LP/P     rs63751241     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067908  p.Gln1406Lys   LP/P     rs387906859    Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067909  p.Arg1459Cys   LP/P     rs72547524     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_072803  p.Pro4His      US       rs1555523872   -
ABCC6     O95255     VAR_072804  p.Ala9Glu      US       rs1555523855   -
ABCC6     O95255     VAR_072805  p.Pro21Ser     US       rs1235912910   -
ABCC6     O95255     VAR_072806  p.Arg64Gln     US       rs777566074    -
ABCC6     O95255     VAR_072807  p.Ala90Thr     US       rs957828732    -
ABCC6     O95255     VAR_072808  p.Arg419Gln    US       rs772434460    -
ABCC6     O95255     VAR_072809  p.Leu605Pro    US       rs768271196    -
ABCC6     O95255     VAR_072810  p.Glu709Gly    US       rs1555513103   -
ABCC6     O95255     VAR_072811  p.Met834Thr    US       rs1355752953   -
ABCC6     O95255     VAR_072812  p.Leu948Pro    US       rs1555510407   -
ABCC6     O95255     VAR_072813  p.Ala1442Thr   US       rs1462269230   -
ABCC8     Q09428     VAR_000100  p.Gly716Val    LP/P     rs72559723     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008537  p.Arg1352Pro   LP/P     rs28936370     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008539  p.Arg1420Cys   LP/P     rs28938469     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008540  p.Arg1493Trp   LP/P     rs28936371     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008639  p.Arg74Gln     LP/P     rs72559734     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008640  p.His125Gln    LP/P     rs60637558     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008641  p.Val187Asp    LP/P     rs137852672    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008642  p.Asn188Ser    LP/P     rs797045213    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008643  p.Arg275Gln    LB/B     rs185040406    -
ABCC8     Q09428     VAR_008644  p.Asn406Asp    LP/P     rs72559728     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008645  p.Val560Met    LB/B     rs4148619      -
ABCC8     Q09428     VAR_008646  p.Phe591Leu    LP/P     rs72559726     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008647  p.Asp810Asn    LB/B     rs767572066    -
ABCC8     Q09428     VAR_008648  p.Arg834Cys    LB/B     rs140068774    -
ABCC8     Q09428     VAR_008649  p.Thr1138Met   LP/P     rs201351976    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008650  p.Arg1214Gln   LP/P     rs367850779    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008651  p.Val1360Gly   LB/B     -              -
ABCC8     Q09428     VAR_008652  p.Ala1369Ser   LB/B     rs757110       -
ABCC8     Q09428     VAR_008653  p.Gly1378Arg   LP/P     rs925231098    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008654  p.Gly1381Ser   LP/P     rs773448052    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008655  p.Arg1393His   LP/P     rs769279368    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008656  p.Gly1478Arg   LP/P     rs72559715     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008658  p.Val1572Ile   LB/B     rs8192690      -
ABCC8     Q09428     VAR_015006  p.Asp673Asn    LB/B     rs777986828    -
ABCC8     Q09428     VAR_015007  p.Val1360Met   LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_015008  p.Arg1436Gln   LP/P     rs387906407    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_015009  p.Glu1506Lys   LP/P     rs137852671    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_015010  p.Leu1543Pro   LP/P     rs72559713     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_029777  p.Leu104Val    LB/B     rs10400391     -
ABCC8     Q09428     VAR_029778  p.Phe132Leu    LP/P     rs80356637     Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_029779  p.Leu213Arg    LP/P     rs80356642     Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_029780  p.Cys435Arg    LP/P     -              Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029781  p.Leu582Val    LP/P     rs137852674    Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029782  p.His1023Tyr   LP/P     -              Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029783  p.Arg1182Gln   LP/P     rs193922400    Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029784  p.Arg1352His   LP/P     rs28936370     Leucine-induced hypoglycemia (LIH) [MIM:240800]
ABCC8     Q09428     VAR_029785  p.Arg1379Cys   LP/P     rs137852673    Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029787  p.Ile1424Val   LP/P     rs80356653     Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_031349  p.Gly7Arg      LP/P     rs781059815    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031350  p.Val21Asp     LP/P     rs200670692    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031351  p.Phe27Ser     LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031352  p.Gly70Glu     LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031353  p.Arg74Trp     LP/P     rs201682634    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031354  p.Val86Ala     LP/P     rs193929360    Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_031355  p.Gly111Arg    LP/P     rs761749884    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031356  p.Ala116Pro    LP/P     rs72559731     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031357  p.Met233Arg    LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031358  p.Asp310Asn    LP/P     rs769569410    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031359  p.Cys418Arg    LP/P     rs67254669     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031360  p.Arg495Gln    LP/P     rs1420601296   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031361  p.Glu501Lys    LP/P     rs372307320    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031362  p.Leu503Pro    LP/P     rs1554933168   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031363  p.Leu508Pro    LP/P     rs72559727     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031364  p.Pro551Arg    LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031365  p.Arg620Cys    LP/P     rs58241708     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031366  p.Phe686Ser    LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031367  p.Lys719Thr    LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031368  p.Arg841Gly    LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031369  p.Lys889Thr    LP/P     rs761862121    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031370  p.Ser956Phe    LP/P     rs72559721     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031371  p.Thr1130Pro   LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031372  p.Leu1147Arg   LP/P     rs1262517518   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031373  p.Arg1214Trp   LP/P     rs139964066    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031374  p.Asn1295Lys   LP/P     rs542157938    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031375  p.Lys1336Asn   LP/P     rs67767715     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031376  p.Gly1342Glu   LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031377  p.Leu1349Gln   LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031378  p.Lys1384Gln   LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031379  p.Ser1386Phe   LP/P     rs72559718     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031380  p.Gly1400Arg   LP/P     rs137852676    Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_031380  p.Gly1400Arg   LP/P     rs137852676    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031381  p.Arg1418His   LP/P     rs1446306735   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031382  p.Leu1450Pro   LP/P     rs1554904565   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031383  p.Ala1457Thr   LP/P     rs72559717     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031384  p.Asp1471His   LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031385  p.Asp1471Asn   LP/P     rs72559716     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031386  p.Arg1486Lys   LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031387  p.Arg1493Gln   LP/P     rs746480424    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031388  p.Val1550Asp   LP/P     rs1221760584   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031389  p.Leu1551Val   LP/P     rs1320740169   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072928  p.Pro45Leu     LP/P     rs267606623    Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072929  p.Asn72Ser     LP/P     rs80356634     Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072930  p.Val86Gly     LP/P     rs193929360    Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072931  p.Phe132Val    LP/P     rs80356637     Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072932  p.Pro207Ser    LP/P     -              Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072933  p.Glu208Lys    LP/P     -              Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072934  p.Asp209Glu    LP/P     rs80356640     Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072935  p.Gln211Lys    LP/P     rs193929366    Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072936  p.Leu225Pro    LP/P     rs1048095      Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072937  p.Thr229Ile    LP/P     rs768017509    Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072938  p.Tyr263Asp    LP/P     rs778892038    Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072939  p.Glu382Lys    LP/P     rs80356651     Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072940  p.Leu511Met    LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072941  p.Gly716Asp    LP/P     rs72559723     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072942  p.Glu824Lys    LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072943  p.Leu890Pro    LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072944  p.Ala1184Glu   LP/P     rs137852675    Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072945  p.Glu1326Lys   LP/P     rs200563930    Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC8     Q09428     VAR_072946  p.Gly1378Ser   LP/P     rs925231098    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072947  p.Ser1388Tyr   LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072948  p.Leu1389Pro   LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072949  p.Ala1457Val   LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072950  p.Asn1480Ile   LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072951  p.Asp1505Glu   LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072952  p.Ile1511Ser   LP/P     -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072953  p.Val1522Leu   LP/P     -              Diabetes mellitus, permanent neonatal 3 (PNDM3) [MIM:618857]
ABCC9     O60706     VAR_018483  p.Ala1513Thr   LP/P     rs72559751     Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569]
ABCC9     O60706     VAR_048143  p.Pro1108Ser   LB/B     rs35404804     -
ABCC9     O60706     VAR_066210  p.Thr1547Ile   LP/P     rs387906805    Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050]
ABCC9     O60706     VAR_068485  p.His60Tyr     LP/P     rs387907230    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068486  p.Asp207Glu    LP/P     -              Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068487  p.Gly380Cys    LP/P     rs1165205076   Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068488  p.Pro432Leu    LP/P     -              Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068489  p.Ala478Val    LP/P     rs387907211    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068490  p.Ser1020Pro   LP/P     rs387907229    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068491  p.Phe1039Ser   LP/P     -              Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068492  p.Cys1043Tyr   LP/P     rs387907210    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068493  p.Ser1054Tyr   LP/P     -              Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068494  p.Arg1116Cys   LP/P     rs387907228    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068495  p.Arg1116His   LP/P     rs387907227    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068496  p.Arg1154Gln   LP/P     rs387907209    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068497  p.Arg1154Trp   LP/P     rs387907208    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_083082  p.Leu1160Arg   US       rs780799175    -
ABCD1     P33897     VAR_000024  p.Ser98Leu     LP/P     rs1557052294   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000025  p.Arg104Cys    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000026  p.Arg104His    LP/P     rs1557052302   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000027  p.Thr105Ile    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000028  p.Leu107Pro    LP/P     rs1569540688   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000029  p.Ser108Trp    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000030  p.Gly116Arg    LP/P     rs398123110    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000033  p.Ala141Thr    LP/P     rs193922097    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000034  p.Asn148Ser    LP/P     rs128624216    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000035  p.Ser149Asn    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000036  p.Arg152Cys    LP/P     rs1569540693   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000037  p.Arg152Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000038  p.Arg163His    LP/P     rs1057517954   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000039  p.Tyr174Asp    LP/P     rs128624217    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000040  p.Tyr174Ser    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000041  p.Gln178Glu    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000042  p.Tyr181Cys    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000043  p.Arg182Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000044  p.Asp194His    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000045  p.Asp200Val    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000046  p.Leu211Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000047  p.Leu220Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000048  p.Asp221Gly    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000049  p.Thr254Met    LP/P     rs1131691743   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000050  p.Thr254Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000051  p.Pro263Leu    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000052  p.Gly266Arg    LP/P     rs128624218    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000053  p.Lys276Glu    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000054  p.Gly277Arg    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000056  p.Gly277Trp    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000057  p.Glu291Asp    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000058  p.Glu291Lys    LP/P     rs128624213    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000060  p.Ala294Thr    LP/P     rs1131691954   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000061  p.Ser342Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000062  p.Arg389Gly    LP/P     rs128624215    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000063  p.Arg389His    LP/P     rs886044777    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000064  p.Arg401Gln    LP/P     rs128624219    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000065  p.Arg418Trp    LP/P     rs128624220    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000066  p.Pro484Arg    LP/P     rs128624214    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000067  p.Gly507Val    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000068  p.Gly512Ser    LP/P     rs1569541088   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000069  p.Ser515Phe    LP/P     rs128624223    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000070  p.Arg518Gln    LP/P     rs398123102    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000071  p.Arg518Trp    LP/P     rs128624224    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000072  p.Gly522Trp    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000074  p.Pro534Leu    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000075  p.Pro560Leu    LP/P     rs398123105    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000076  p.Pro560Arg    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000077  p.Met566Lys    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000078  p.Arg591Gln    LP/P     rs1557054873   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000079  p.Ser606Leu    LP/P     rs128624225    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000080  p.Ser606Pro    LP/P     rs201774661    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000081  p.Glu609Gly    LP/P     rs1557055260   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000082  p.Glu609Lys    LP/P     rs150346282    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000083  p.Arg617Cys    LP/P     rs4010613      Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000084  p.Arg617Gly    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000085  p.Arg617His    LP/P     rs11146842     Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000086  p.Ala626Thr    LP/P     rs1557055316   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000087  p.Asp629His    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000089  p.Arg660Trp    LP/P     rs1569541203   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000090  p.Trp679Arg    LP/P     rs1557055405   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009349  p.Glu90Lys     LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009350  p.Ser103Arg    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009351  p.Thr105Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009352  p.Ser108Leu    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009353  p.Arg113Cys    LP/P     rs1557052306   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009354  p.Pro143Ser    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009355  p.Arg152Leu    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009356  p.Arg152Ser    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009357  p.Ser161Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009358  p.Arg163Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009359  p.Tyr174Cys    LP/P     rs1557052390   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009360  p.Arg189Trp    LP/P     rs1131691916   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009361  p.Leu190Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009362  p.Thr198Lys    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009363  p.Asp200Asn    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009364  p.Ser213Cys    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009365  p.Asn214Asp    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009366  p.Pro218Thr    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009367  p.Leu229Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009368  p.Glu271Lys    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009369  p.Arg285Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009370  p.Tyr296Cys    LP/P     rs797044610    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009371  p.Gly298Asp    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009372  p.Glu302Lys    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009373  p.Leu322Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009374  p.Lys336Met    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009375  p.Arg401Trp    LP/P     rs727503786    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009376  p.Gly529Ser    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009377  p.Phe540Ser    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009378  p.Pro543Leu    LP/P     rs1557054776   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009379  p.Gln544Arg    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009380  p.Ser552Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009381  p.Arg554His    LP/P     rs201568579    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009382  p.Arg591Trp    LP/P     rs398123106    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009383  p.Ala616Val    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009384  p.Glu630Gly    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009385  p.Cys631Tyr    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009386  p.Ser633Arg    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009387  p.Ser636Ile    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009388  p.Asp638Tyr    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009389  p.Ala646Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009390  p.Leu654Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009391  p.His667Asp    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009392  p.Thr668Ile    LP/P     rs1557055398   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009393  p.Thr693Met    LP/P     rs782311214    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013340  p.Asn13Thr     LB/B     rs183021839    -
ABCD1     P33897     VAR_013341  p.Ala99Asp     LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013342  p.Arg113Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013344  p.Lys217Glu    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013345  p.Val224Glu    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013346  p.Arg274Trp    LP/P     rs782760033    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013347  p.Arg280Cys    LP/P     rs193922098    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013349  p.Trp339Arg    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013350  p.Gly343Asp    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013352  p.Gln556Arg    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013353  p.Pro560Ser    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013354  p.Arg591Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013355  p.Gly608Asp    LP/P     rs78993751     Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013356  p.Ala626Asp    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013357  p.Thr632Ile    LP/P     rs1064793877   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013358  p.Ser633Ile    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013359  p.Val635Met    LP/P     rs201427153    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013360  p.Arg660Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_023004  p.Cys88Trp     LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_023005  p.Gly343Ser    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_023006  p.Leu503Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_023007  p.Ser514Arg    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067240  p.Thr198Arg    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067241  p.Gly266Glu    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067242  p.Leu523Phe    LP/P     rs1159943880   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067243  p.Phe540Cys    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067244  p.Thr632Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067245  p.Glu640Lys    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067246  p.Gly677Asp    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067328  p.Leu516Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067329  p.Arg660Gln    LP/P     rs1557055340   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_075284  p.Ala95Asp     LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_075285  p.Gln316Pro    LP/P     -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD2     Q9UBJ2     VAR_062664  p.Gln244Lys    US       -              A pancreatic ductal adenocarcinoma sample
ABCD3     P28288     VAR_000091  p.Gly17Asp     LB/B     rs121917999    -
ABCD4     O14678     VAR_020222  p.Glu368Lys    LB/B     rs3742801      -
ABCD4     O14678     VAR_020778  p.Ala304Thr    LB/B     rs4148077      -
ABCD4     O14678     VAR_048134  p.Val172Ile    LB/B     rs34992370     -
ABCD4     O14678     VAR_048135  p.Thr350Arg    LB/B     rs35073715     -
ABCD4     O14678     VAR_069097  p.Tyr319Cys    LP/P     rs201777056    Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]
ABCE1     P61221     VAR_068914  p.Ser489Cys    LB/B     rs3816497      -
ABCF1     Q8NE71     VAR_048136  p.Asn198Asp    LB/B     rs6902544      -
ABCF3     Q9NUQ8     VAR_027247  p.Pro503Leu    LB/B     rs11706273     -
ABCF3     Q9NUQ8     VAR_027248  p.Arg510His    LB/B     rs9811715      -
ABCG1     P45844     VAR_012279  p.Phe668Leu    LB/B     -              -
ABCG2     Q9UNQ0     VAR_018349  p.Phe431Leu    LB/B     -              -
ABCG2     Q9UNQ0     VAR_018350  p.Phe489Leu    LB/B     rs192169063    -
ABCG2     Q9UNQ0     VAR_020779  p.Val12Met     LB/B     rs2231137      -
ABCG2     Q9UNQ0     VAR_020780  p.Gln141Lys    LB/B     rs2231142      -
ABCG2     Q9UNQ0     VAR_022443  p.Thr316Pro    LB/B     -              -
ABCG2     Q9UNQ0     VAR_022704  p.Gln166Glu    LB/B     rs1061017      -
ABCG2     Q9UNQ0     VAR_022705  p.Ile206Leu    LB/B     rs12721643     -
ABCG2     Q9UNQ0     VAR_022706  p.Phe208Ser    LB/B     rs1061018      -
ABCG2     Q9UNQ0     VAR_022707  p.Ser248Pro    LB/B     rs3116448      -
ABCG2     Q9UNQ0     VAR_022708  p.Phe571Ile    LB/B     rs9282571      -
ABCG2     Q9UNQ0     VAR_022709  p.Asp620Asn    LB/B     rs34783571     -
ABCG2     Q9UNQ0     VAR_030357  p.Asp296His    LB/B     rs41282401     -
ABCG2     Q9UNQ0     VAR_030358  p.Ala528Thr    LB/B     rs45605536     -
ABCG2     Q9UNQ0     VAR_035355  p.Asn590Tyr    LB/B     rs34264773     -
ABCG2     Q9UNQ0     VAR_067363  p.Ser13Leu     LB/B     rs1319203095   -
ABCG2     Q9UNQ0     VAR_067364  p.Arg160Gln    LB/B     rs528655917    -
ABCG2     Q9UNQ0     VAR_067365  p.Gly354Arg    LB/B     rs138606116    -
ABCG2     Q9UNQ0     VAR_067366  p.Ser441Asn    LB/B     rs1354553769   -
ABCG2     Q9UNQ0     VAR_082302  p.Arg147Trp    LB/B     rs372192400    -
ABCG2     Q9UNQ0     VAR_082303  p.Thr153Met    LB/B     rs753759474    -
ABCG2     Q9UNQ0     VAR_082305  p.Phe373Cys    LB/B     rs752626614    -
ABCG2     Q9UNQ0     VAR_082306  p.Thr421Ala    LB/B     rs199854112    -
ABCG2     Q9UNQ0     VAR_082307  p.Thr434Met    LB/B     rs769734146    -
ABCG2     Q9UNQ0     VAR_082308  p.Ser476Pro    LB/B     rs1274428653   -
ABCG2     Q9UNQ0     VAR_082309  p.Ser572Arg    LB/B     rs200894058    -
ABCG4     Q9H172     VAR_048141  p.Pro352Leu    LB/B     rs35060365     -
ABCG5     Q9H222     VAR_012244  p.Glu146Gln    LP/P     rs758551848    Sitosterolemia 2 (STSL2) [MIM:618666]
ABCG5     Q9H222     VAR_012245  p.Arg389His    LP/P     rs119480069    Sitosterolemia 2 (STSL2) [MIM:618666]
ABCG5     Q9H222     VAR_012246  p.Arg419His    LP/P     rs119479067    Sitosterolemia 2 (STSL2) [MIM:618666]
ABCG5     Q9H222     VAR_012247  p.Arg419Pro    LP/P     rs119479067    Sitosterolemia 2 (STSL2) [MIM:618666]
ABCG5     Q9H222     VAR_012248  p.Arg550Ser    LP/P     -              Sitosterolemia 2 (STSL2) [MIM:618666]
ABCG5     Q9H222     VAR_012249  p.Gln604Glu    LB/B     rs6720173      -
ABCG5     Q9H222     VAR_020781  p.Asn437Lys    LP/P     rs575266356    Sitosterolemia 2 (STSL2) [MIM:618666]
ABCG5     Q9H222     VAR_020782  p.Ile523Val    LB/B     rs140899003    -
ABCG5     Q9H222     VAR_020783  p.Cys600Tyr    LB/B     rs779109455    -
ABCG5     Q9H222     VAR_020784  p.Met622Val    LB/B     rs140374206    -
ABCG5     Q9H222     VAR_033457  p.Thr517Ser    LB/B     rs17031672     -
ABCG5     Q9H222     VAR_048142  p.Arg50Cys     LB/B     rs6756629      -
ABCG8     Q9H221     VAR_012250  p.Asp19His     LB/B     rs11887534     -
ABCG8     Q9H221     VAR_012251  p.Tyr54Cys     LB/B     rs4148211      -
ABCG8     Q9H221     VAR_012252  p.Arg184His    LP/P     rs766212636    Sitosterolemia 1 (STSL1) [MIM:210250]
ABCG8     Q9H221     VAR_012253  p.Pro231Thr    LP/P     rs137852993    Sitosterolemia 1 (STSL1) [MIM:210250]
ABCG8     Q9H221     VAR_012254  p.Glu238Lys    US       rs34754243     Sitosterolemia 1 (STSL1) [MIM:210250]
ABCG8     Q9H221     VAR_012255  p.Ala259Val    LB/B     rs35518570     -
ABCG8     Q9H221     VAR_012256  p.Arg263Gln    LP/P     rs137852990    Sitosterolemia 1 (STSL1) [MIM:210250]
ABCG8     Q9H221     VAR_012257  p.Thr400Lys    LB/B     rs4148217      -
ABCG8     Q9H221     VAR_012258  p.Arg405His    LP/P     rs1177309800   Sitosterolemia 1 (STSL1) [MIM:210250]
ABCG8     Q9H221     VAR_012259  p.Leu501Pro    LP/P     rs1233989408   Sitosterolemia 1 (STSL1) [MIM:210250]
ABCG8     Q9H221     VAR_012260  p.Arg543Ser    LP/P     rs201690654    Sitosterolemia 1 (STSL1) [MIM:210250]
ABCG8     Q9H221     VAR_012262  p.Leu572Pro    LP/P     rs769576789    Sitosterolemia 1 (STSL1) [MIM:210250]
ABCG8     Q9H221     VAR_012263  p.Gly574Glu    LP/P     rs1325979386   Sitosterolemia 1 (STSL1) [MIM:210250]
ABCG8     Q9H221     VAR_012264  p.Gly574Arg    LP/P     rs137852988    Sitosterolemia 1 (STSL1) [MIM:210250]
ABCG8     Q9H221     VAR_012265  p.Gly575Arg    LB/B     -              -
ABCG8     Q9H221     VAR_012266  p.Leu596Arg    LP/P     rs137852992    Sitosterolemia 1 (STSL1) [MIM:210250]
ABCG8     Q9H221     VAR_012267  p.Val632Ala    LB/B     rs6544718      -
ABCG8     Q9H221     VAR_020785  p.Tyr641Phe    LB/B     rs145125968    -
ABCG8     Q9H221     VAR_022074  p.Val210Met    LB/B     rs9282574      -
ABCG8     Q9H221     VAR_022075  p.Met655Val    LB/B     rs9282573      -
ABHD1     Q96SE0     VAR_031087  p.Asp137Glu    LB/B     rs6715286      -
ABHD1     Q96SE0     VAR_031088  p.Trp371Cys    LB/B     rs2304678      -
ABHD1     Q96SE0     VAR_052484  p.Pro54Gln     LB/B     rs34127901     -
ABHD10    Q9NUJ1     VAR_031194  p.Ile251Val    LB/B     rs17429033     -
ABHD12    Q8N2K0     VAR_050630  p.Ala349Thr    LB/B     rs746748       -
ABHD12    Q8N2K0     VAR_081589  p.Arg186Pro    US       rs587777604    Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]
ABHD12    Q8N2K0     VAR_081590  p.Thr202Ile    US       -              Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]
ABHD12    Q8N2K0     VAR_081591  p.Thr253Arg    LP/P     rs772987424    Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]
ABHD12    Q8N2K0     VAR_081593  p.His372Gln    US       rs587777602    Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]
ABHD12B   Q7Z5M8     VAR_019100  p.Phe334Leu    LB/B     rs7154732      -
ABHD12B   Q7Z5M8     VAR_035676  p.Ile282Val    US       rs28564871     A breast cancer sample
ABHD14A   Q9BUJ0     VAR_031390  p.Arg32Gln     LB/B     rs17849626     -
ABHD14A   Q9BUJ0     VAR_031391  p.Cys61Trp     LB/B     rs404527       -
ABHD15    Q6UXT9     VAR_045821  p.Thr334Ala    LB/B     rs542939       -
ABHD16B   Q9H3Z7     VAR_050920  p.Leu10Gln     LB/B     rs2281534      -
ABHD17B   Q5VST6     VAR_031230  p.Gln169Lys    LB/B     rs17854317     -
ABHD17B   Q5VST6     VAR_054080  p.Arg154Lys    LB/B     rs12380380     -
ABHD2     P08910     VAR_031203  p.Arg253Gln    LB/B     rs17851730     -
ABHD3     Q8WU67     VAR_031089  p.Arg3Cys      LB/B     rs17851878     -
ABHD5     Q8WTS1     VAR_023387  p.Glu7Lys      LP/P     rs104893676    Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5     Q8WTS1     VAR_023388  p.Gln130Pro    LP/P     rs28939077     Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5     Q8WTS1     VAR_023389  p.Glu260Lys    LP/P     rs28939078     Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5     Q8WTS1     VAR_037574  p.Ile72Thr     LB/B     rs2302349      -
ABHD5     Q8WTS1     VAR_057953  p.His82Arg     LB/B     rs145548259    -
ABHD5     Q8WTS1     VAR_057954  p.Ser115Gly    LP/P     -              Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD6     Q9BV23     VAR_081595  p.Arg113His    LB/B     rs200333190    -
ABHD6     Q9BV23     VAR_081596  p.Ser148Cys    LB/B     rs11544004     -
ABHD6     Q9BV23     VAR_081597  p.Pro204Leu    LB/B     rs199678322    -
ABHD6     Q9BV23     VAR_081598  p.Thr206Pro    LB/B     rs199696239    -
ABHD6     Q9BV23     VAR_081599  p.Gly231Val    LB/B     rs745824058    -
ABI1      Q8IZP0     VAR_048159  p.Gly331Ala    LB/B     rs2306236      -
ABI3      Q9P2A4     VAR_022030  p.Arg44Gln     LB/B     rs2233369      -
ABI3      Q9P2A4     VAR_060243  p.Ser203Phe    LB/B     rs616338       -
ABI3      Q9P2A4     VAR_060993  p.Phe209Ser    LB/B     rs616338       -
ABI3BP    Q7Z7G0     VAR_079855  p.Asp670Gly    US       -              -
ABL1      P00519     VAR_025043  p.Gly706Val    LB/B     rs34634745     -
ABL1      P00519     VAR_025044  p.Thr852Pro    LB/B     -              -
ABL1      P00519     VAR_025045  p.Pro900Ser    LB/B     rs35266696     -
ABL1      P00519     VAR_025046  p.Ser972Leu    LB/B     rs2229067      -
ABL1      P00519     VAR_032676  p.Arg47Gly     US       -              A lung large cell carcinoma sample
ABL1      P00519     VAR_032677  p.Arg166Lys    US       -              A melanoma sample
ABL1      P00519     VAR_032678  p.Pro810Leu    LB/B     rs2229071      -
ABL1      P00519     VAR_051692  p.Leu140Pro    LB/B     rs1064152      -
ABL1      P00519     VAR_051693  p.Lys247Arg    LB/B     rs34549764     -
ABL1      P00519     VAR_051694  p.Ser968Pro    LB/B     rs1064165      -
ABL1      P00519     VAR_079482  p.Tyr226Cys    LP/P     rs1060499547   Congenital heart defects and skeletal malformations syndrome (CHDSKM) [MIM:617602]
ABL1      P00519     VAR_079483  p.Ala337Thr    LP/P     rs1060499548   Congenital heart defects and skeletal malformations syndrome (CHDSKM) [MIM:617602]
ABL2      P42684     VAR_029232  p.Lys930Arg    LB/B     rs17277288     -
ABL2      P42684     VAR_029233  p.Val946Met    LB/B     rs28913889     -
ABL2      P42684     VAR_029234  p.Pro996Arg    LB/B     rs28913890     -
ABL2      P42684     VAR_029235  p.Ser1085Asn   LB/B     rs28913891     -
ABL2      P42684     VAR_029236  p.Thr1101Ala   LB/B     rs28913892     -
ABL2      P42684     VAR_055411  p.Arg78His     LB/B     rs55655202     -
ABL2      P42684     VAR_055412  p.Glu99Gln     US       -              -
ABL2      P42684     VAR_055413  p.Arg519Ile    US       -              -
ABL2      P42684     VAR_055414  p.Thr769Ser    LB/B     rs55892721     -
ABLIM1    O14639     VAR_050141  p.Pro434Thr    LB/B     rs11593544     -
ABLIM1    O14639     VAR_050142  p.Arg637Gly    LB/B     rs7091419      -
ABLIM2    Q6H8Q1     VAR_062665  p.Gly227Arg    US       rs757430763    A pancreatic ductal adenocarcinoma sample
ABLIM2    Q6H8Q1     VAR_062666  p.Lys274Met    US       -              A pancreatic ductal adenocarcinoma sample
ABLIM3    O94929     VAR_050143  p.Gly125Asp    LB/B     rs35907283     -
ABO       P16442     VAR_003409  p.Pro156Leu    LB/B     rs1053878      -
ABO       P16442     VAR_003410  p.Arg176Gly    LB/B     rs7853989      -
ABO       P16442     VAR_003411  p.Gly235Ser    LB/B     rs8176743      -
ABO       P16442     VAR_003412  p.Leu266Met    LB/B     rs8176746      -
ABO       P16442     VAR_003413  p.Gly268Ala    LB/B     rs8176747      -
ABO       P16442     VAR_003414  p.Arg352Trp    LB/B     -              -
ABO       P16442     VAR_019147  p.Gly35Arg     LB/B     rs8176696      -
ABO       P16442     VAR_019148  p.Val36Phe     LB/B     rs688976       -
ABO       P16442     VAR_019149  p.Arg63His     LB/B     rs549446       -
ABO       P16442     VAR_019150  p.Pro74Ser     LB/B     rs512770       -
ABO       P16442     VAR_019151  p.Arg161His    LB/B     rs8176738      -
ABO       P16442     VAR_019152  p.Arg199Cys    LB/B     rs8176739      -
ABO       P16442     VAR_019153  p.Phe216Ile    LB/B     rs8176740      -
ABO       P16442     VAR_019154  p.Val277Met    LB/B     rs8176748      -
ABO       P16442     VAR_033540  p.Pro257Leu    LB/B     rs8176745      -
ABO       P16442     VAR_033541  p.Gly268Arg    LB/B     rs41302905     -
ABO       P16442     VAR_036738  p.Thr163Met    LB/B     rs55756402     -
ABO       P16442     VAR_036739  p.Arg198Trp    LB/B     -              -
ABO       P16442     VAR_036740  p.Met214Arg    LB/B     -              -
ABO       P16442     VAR_036741  p.Glu223Asp    LB/B     -              -
ABO       P16442     VAR_036742  p.Met288Arg    LB/B     -              -
ABO       P16442     VAR_036743  p.Asp291Asn    LB/B     -              -
ABO       P16442     VAR_036744  p.Lys346Met    LB/B     -              -
ABO       P16442     VAR_036745  p.Arg352Gly    LB/B     -              -
ABO       P16442     VAR_055227  p.Gly230Arg    US       -              -
ABO       P16442     VAR_072628  p.Pro234Ala    LB/B     -              -
ABR       Q12979     VAR_057186  p.Lys517Arg    LB/B     rs34169260     -
ABRAXAS1  Q6UWZ7     VAR_030790  p.Ala239Thr    LB/B     rs752929794    -
ABRAXAS1  Q6UWZ7     VAR_054054  p.Ala348Thr    LB/B     rs12642536     -
ABRAXAS1  Q6UWZ7     VAR_054055  p.Asp373Asn    LB/B     rs13125836     -
ABRAXAS1  Q6UWZ7     VAR_071865  p.Arg361Gln    LP/P     rs201627097    Breast cancer (BC) [MIM:114480]
ABTB2     Q8N961     VAR_022087  p.His250Gln    LB/B     rs1925368      -
ABTB2     Q8N961     VAR_024171  p.Thr918Ala    LB/B     rs2473928      -
ACAA1     P09110     VAR_011904  p.Glu172Asp    LB/B     rs156265       -
ACAA1     P09110     VAR_069148  p.Val387Ala    LB/B     rs2229528      -
ACAA2     P42765     VAR_052577  p.Met217Val    LB/B     rs11549285     -
ACACA     Q13085     VAR_028929  p.Ala2271Val   LB/B     rs146351326    -
ACACA     Q13085     VAR_036514  p.Arg1687Gln   US       rs1357271377   A colorectal cancer sample
ACACA     Q13085     VAR_042941  p.Arg838Trp    LB/B     rs2287351      -
ACACB     O00763     VAR_031255  p.Ile552Val    LB/B     rs16940029     -
ACACB     O00763     VAR_031256  p.Ala651Thr    LB/B     rs2300455      -
ACACB     O00763     VAR_031257  p.Val2141Ile   LB/B     rs2075260      -
ACACB     O00763     VAR_062667  p.Arg193Leu    US       -              A pancreatic ductal adenocarcinoma sample
ACAD10    Q6JQN1     VAR_031811  p.Gln200Arg    LB/B     rs35276160     -
ACAD10    Q6JQN1     VAR_031812  p.Thr216Pro    LB/B     rs35753710     -
ACAD10    Q6JQN1     VAR_031813  p.Asp463Asn    LB/B     rs36046440     -
ACAD10    Q6JQN1     VAR_031814  p.Ala880Val    LB/B     rs34245489     -
ACAD11    Q709F0     VAR_028826  p.Val362Leu    LB/B     rs6776576      -
ACAD8     Q9UKU7     VAR_035071  p.Met128Ile    LP/P     rs374317179    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035072  p.Asp134Tyr    LP/P     rs367857040    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035073  p.Gly137Arg    LP/P     rs371449613    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035074  p.Met152Thr    LP/P     rs121908418    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035075  p.Val203Ile    LP/P     rs759877257    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035076  p.Arg302Gln    LP/P     rs121908422    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035077  p.Ala320Thr    LP/P     rs200620279    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035078  p.Arg334Cys    LP/P     rs778823613    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035079  p.Gln385Arg    LP/P     rs367996531    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD9     Q9H845     VAR_033459  p.Arg477Gln    LB/B     rs4494951      -
ACAD9     Q9H845     VAR_071892  p.Phe44Ile     LP/P     rs387907041    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071893  p.Arg127Lys    LP/P     -              Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071894  p.Arg193Trp    US       rs377547811    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071895  p.Ala220Val    LP/P     -              Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071896  p.Ser234Phe    US       -              Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071897  p.Arg266Gln    LP/P     rs387907042    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071898  p.Gly303Ser    US       rs143383023    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071899  p.Ala326Thr    US       rs115532916    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071900  p.Glu413Lys    US       rs149753643    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071901  p.Arg414Cys    LP/P     rs777282696    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071902  p.Arg417Cys    LP/P     rs368949613    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071903  p.Arg469Trp    LP/P     rs139145143    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071904  p.Arg518His    LP/P     rs781149699    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071905  p.Arg532Trp    LP/P     rs377022708    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_076177  p.Cys271Gly    LP/P     -              Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_076178  p.Val384Met    LP/P     rs1447947184   Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_076179  p.Leu606His    LP/P     -              Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACADL     P28330     VAR_000328  p.Ser303Thr    LB/B     rs1801204      -
ACADL     P28330     VAR_000329  p.Lys333Gln    LB/B     rs2286963      -
ACADM     P11310     VAR_000317  p.Arg53Cys     LP/P     rs398123072    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000319  p.Met149Ile    LP/P     rs121434277    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000320  p.Thr193Ala    LP/P     rs121434279    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000321  p.Gly195Arg    LP/P     rs121434278    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000322  p.Cys244Arg    LP/P     rs121434276    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000323  p.Gly267Arg    LP/P     rs121434274    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000324  p.Met326Thr    LP/P     rs786204631    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000325  p.Lys329Glu    LP/P     rs77931234     Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000326  p.Ser336Arg    LP/P     -              Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000327  p.Ile375Thr    LP/P     rs121434275    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_013698  p.Tyr67His     LP/P     rs121434280    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_013699  p.Ser245Leu    LP/P     rs121434281    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_013700  p.Arg281Thr    LP/P     rs121434282    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015954  p.Ile78Thr     LP/P     rs398123074    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015955  p.Cys116Tyr    LP/P     rs875989859    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015956  p.Thr121Ile    LP/P     rs121434283    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015957  p.Arg206Leu    LP/P     rs200724875    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015958  p.Gly310Arg    LP/P     rs747268471    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015959  p.Tyr352Cys    LP/P     rs1227800781   Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_035716  p.Pro132Arg    US       rs875989854    A breast cancer sample
ACADS     P16219     VAR_000310  p.Arg46Trp     LP/P     rs121908003    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_000311  p.Gly92Cys     LP/P     rs121908004    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_000312  p.Arg107Cys    LP/P     rs61732144     Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_000314  p.Trp177Arg    LP/P     rs57443665     Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_000315  p.Gly209Ser    LB/B     rs1799958      -
ACADS     P16219     VAR_000316  p.Arg383Cys    LP/P     rs28940872     Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013565  p.Gly90Ser     LP/P     rs121908005    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013567  p.Arg171Trp    LB/B     rs1800556      -
ACADS     P16219     VAR_013568  p.Ala192Val    LP/P     rs28940874     Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013569  p.Arg325Trp    LP/P     rs121908006    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013570  p.Ser353Leu    LP/P     rs28941773     Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013571  p.Arg380Trp    LP/P     rs28940875     Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_033458  p.Arg383His    LB/B     rs35233375     -
ACADSB    P45954     VAR_013010  p.Leu255Phe    LP/P     rs137852649    Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]
ACADSB    P45954     VAR_014749  p.Ser209Gly    LB/B     rs1799823      -
ACADSB    P45954     VAR_048177  p.Arg13Lys     LB/B     rs12263012     -
ACADSB    P45954     VAR_048178  p.Ile316Val    LB/B     rs1131430      -
ACADSB    P45954     VAR_048179  p.Glu376Gly    LB/B     rs12357783     -
ACADVL    P49748     VAR_000330  p.Gly43Asp     LB/B     rs2230178      -
ACADVL    P49748     VAR_000332  p.Thr158Asn    LP/P     -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000333  p.Gln159Arg    LP/P     rs746688190    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000334  p.Val174Met    LP/P     rs369560930    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000335  p.Gly185Ser    LP/P     rs545215807    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000336  p.Glu218Lys    LP/P     rs1432183079   Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000337  p.Leu243Arg    LP/P     -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000338  p.Lys247Thr    LP/P     -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000339  p.Thr260Met    LP/P     rs113994168    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000341  p.Ala281Asp    LP/P     -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000342  p.Val283Ala    LP/P     rs113994167    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000343  p.Gly290Asp    LP/P     rs866464446    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000344  p.Gly294Glu    LP/P     rs200573371    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000345  p.Lys299Asn    LP/P     rs774716484    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000347  p.Val317Ala    LP/P     rs398123095    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000348  p.Met352Val    LP/P     -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000349  p.Arg366Cys    LP/P     rs771874163    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000350  p.Arg366His    LP/P     rs112406105    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000352  p.Lys382Gln    LP/P     rs118204015    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000353  p.Asp405His    LP/P     -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000354  p.Gly441Asp    LP/P     rs2309689      Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000355  p.Arg450His    LP/P     rs118204016    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000356  p.Arg453Gln    LP/P     rs138058572    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000357  p.Asp454Asn    LP/P     rs1419606204   Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000358  p.Arg456His    LP/P     rs794727112    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000359  p.Arg459Trp    LP/P     rs766742117    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000360  p.Gly463Glu    LP/P     rs200366828    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000361  p.Arg469Gln    LP/P     rs398123083    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000362  p.Arg469Trp    LP/P     rs113994170    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000363  p.Leu502Pro    LP/P     -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000364  p.Leu602Ile    LP/P     -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000365  p.Arg613Trp    LP/P     rs118204014    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010101  p.Ala213Pro    LP/P     rs140629318    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010102  p.Lys247Glu    LP/P     rs387906253    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010103  p.Phe458Leu    LP/P     rs118204017    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010104  p.Ala490Pro    LP/P     rs759775666    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010105  p.Glu534Lys    US       rs2230180      Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010106  p.Arg615Gln    LP/P     rs148584617    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_011990  p.Ala359Ser    LB/B     rs1051701      -
ACADVL    P49748     VAR_011991  p.Ser623Phe    LB/B     rs13383        -
ACADVL    P49748     VAR_029286  p.Leu17Phe     LB/B     rs2230179      -
ACADVL    P49748     VAR_048176  p.Pro65Leu     LB/B     rs28934585     -
ACADVL    P49748     VAR_083892  p.Ser583Trp    LP/P     rs1085307648   Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACAN      P16112     VAR_056152  p.Asp102Glu    LB/B     rs16942318     -
ACAN      P16112     VAR_056153  p.Arg275Gln    LB/B     rs34949187     -
ACAN      P16112     VAR_056154  p.Pro2058Leu   LB/B     rs35061438     -
ACAN      P16112     VAR_056155  p.Ser2120Arg   LB/B     rs34153007     -
ACAN      P16112     VAR_063053  p.Asp2381Asn   LP/P     rs121913568    Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG) [MIM:612813]
ACAN      P16112     VAR_063765  p.Val2418Met   LP/P     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    LB/B     rs3743398      -
ACAN      P16112     VAR_080160  p.Pro913Thr    LB/B     rs35430524     -
ACAN      P16112     VAR_080161  p.Ser930Ile    LB/B     rs938608       -
ACAN      P16112     VAR_080162  p.Ser939Thr    LB/B     rs938609       -
ACAN      P16112     VAR_080163  p.Thr1080Ala   LB/B     rs373544100    -
ACAN      P16112     VAR_080164  p.Thr1403Ala   LB/B     rs12899191     -
ACAN      P16112     VAR_080165  p.Glu1508Ala   LB/B     rs2882676      -
ACAN      P16112     VAR_080166  p.Ile1765Val   LB/B     rs4932439      -
ACAN      P16112     VAR_080167  p.Ile2079Val   LB/B     rs1042630      -
ACAN      P16112     VAR_080168  p.Asp2373Glu   LB/B     rs3817428      -
ACAN      P16112     VAR_080169  p.Gln2500Arg   LB/B     rs1126823      -
ACAP1     Q15027     VAR_036178  p.Lys114Arg    US       rs759855054    A breast cancer sample
ACAP1     Q15027     VAR_036179  p.Arg129Gln    US       rs754740225    A colorectal cancer sample
ACAP1     Q15027     VAR_048328  p.Arg68Cys     LB/B     rs35933585     -
ACAP1     Q15027     VAR_048329  p.Arg533Trp    LB/B     rs35019942     -
ACAT1     P24752     VAR_007496  p.Ala5Pro      LB/B     rs3741056      -
ACAT1     P24752     VAR_007498  p.Asn93Ser     LP/P     rs120074145    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007499  p.Gly152Ala    LP/P     rs762991875    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007500  p.Asn158Asp    LP/P     rs148639841    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007501  p.Gly183Arg    LP/P     rs120074141    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007502  p.Thr297Met    LP/P     rs886041122    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007503  p.Ala301Pro    LP/P     rs1420321267   3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007504  p.Ile312Thr    LP/P     rs120074146    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007505  p.Ala333Pro    LP/P     rs120074147    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007506  p.Gly379Val    LP/P     rs120074143    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007507  p.Ala380Thr    LP/P     rs120074140    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT2     Q9BWD1     VAR_019686  p.Lys211Arg    LB/B     rs25683        -
ACBD3     Q9H3P7     VAR_019615  p.Glu187Asp    LB/B     rs2306120      -
ACBD4     Q8NC06     VAR_055478  p.Pro118Leu    LB/B     rs901754       -
ACBD4     Q8NC06     VAR_059109  p.Arg242Gly    LB/B     rs16939879     -
ACBD5     Q5T8D3     VAR_032301  p.Thr472Met    LB/B     rs7918793      -
ACCS      Q96QU6     VAR_038685  p.Gly221Glu    US       rs35514614     A breast cancer sample
ACCS      Q96QU6     VAR_038686  p.Ser393Leu    US       -              A breast cancer sample
ACCS      Q96QU6     VAR_038687  p.Pro421Leu    LB/B     rs3107275      -
ACCS      Q96QU6     VAR_048227  p.Asp59Asn     LB/B     rs33952257     -
ACCS      Q96QU6     VAR_048228  p.Asp134Glu    LB/B     rs2018795      -
ACCSL     Q4AC99     VAR_060626  p.Cys529Arg    LB/B     rs2074051      -
ACD       Q96AP0     VAR_060224  p.Thr215Met    LB/B     rs72547495     -
ACD       Q96AP0     VAR_060225  p.Val432Ala    LB/B     rs6979         -
ACD       Q96AP0     VAR_075694  p.Pro405Thr    LP/P     rs201441120    Dyskeratosis congenita, autosomal recessive, 7 (DKCB7) [MIM:616553]
ACE       P12821     VAR_011707  p.Ala261Ser    LB/B     rs4303         -
ACE       P12821     VAR_011708  p.Arg561Trp    LB/B     rs4314         -
ACE       P12821     VAR_011709  p.Arg1286Ser   LB/B     rs4364         -
ACE       P12821     VAR_014189  p.Ile1018Thr   LB/B     rs4976         -
ACE       P12821     VAR_014190  p.Phe1051Val   LB/B     rs4977         -
ACE       P12821     VAR_014191  p.Arg1279Gln   LB/B     rs4980         -
ACE       P12821     VAR_014192  p.Gln1296Pro   LB/B     rs4981         -
ACE       P12821     VAR_020053  p.Asp592Gly    LB/B     rs12709426     -
ACE       P12821     VAR_023430  p.Tyr244Cys    LB/B     rs3730025      -
ACE       P12821     VAR_023431  p.Pro351Leu    LB/B     rs2229839      -
ACE       P12821     VAR_023432  p.Thr916Met    LB/B     rs3730043      -
ACE       P12821     VAR_023433  p.Thr1187Met   LB/B     rs12709442     -
ACE       P12821     VAR_023434  p.Pro1228Leu   LB/B     rs121912703    -
ACE       P12821     VAR_029139  p.Ala154Thr    LB/B     rs13306087     -
ACE       P12821     VAR_029140  p.Ala183Thr    LB/B     rs12720754     -
ACE       P12821     VAR_029141  p.Arg379Gln    LB/B     rs13306085     -
ACE       P12821     VAR_029142  p.Val524Ala    LB/B     rs12720746     -
ACE       P12821     VAR_034602  p.Met828Thr    LB/B     rs13306091     -
ACE       P12821     VAR_035434  p.Gly354Arg    LB/B     rs56394458     -
ACE       P12821     VAR_054000  p.Arg260Cys    LB/B     rs4302         -
ACE       P12821     VAR_054001  p.Arg260Leu    LB/B     rs4303         -
ACE       P12821     VAR_074173  p.Asp295Asn    LB/B     rs989500910    -
ACE2      Q9BYF1     VAR_023082  p.Lys26Arg     LB/B     rs4646116      -
ACE2      Q9BYF1     VAR_023083  p.Asn638Ser    LB/B     rs183135788    -
ACE2      Q9BYF1     VAR_083726  p.Ile468Val    LB/B     -              -
ACE2      Q9BYF1     VAR_083727  p.Asn720Asp    LB/B     -              -
ACER2     Q5QJU3     VAR_027150  p.Ala134Val    LB/B     rs10964136     -
ACER3     Q9NUN7     VAR_081205  p.Glu33Gly     LP/P     rs1554988032   Leukodystrophy, progressive, early childhood-onset (PLDECO) [MIM:617762]
ACHE      P22303     VAR_002359  p.His353Asn    LB/B     rs1799805      -
ACHE      P22303     VAR_011934  p.Val333Glu    LB/B     rs8286         -
ACHE      P22303     VAR_021325  p.Arg34Gln     LB/B     rs17881553     -
ACHE      P22303     VAR_021326  p.Pro135Ala    LB/B     rs17885778     -
ACIN1     Q9UKV3     VAR_022031  p.Ile311Met    LB/B     rs3811182      -
ACIN1     Q9UKV3     VAR_022032  p.Ser467Pro    LB/B     rs1885097      -
ACIN1     Q9UKV3     VAR_022033  p.Ser478Phe    LB/B     rs3751501      -
ACIN1     Q9UKV3     VAR_035777  p.Arg1160Gln   US       rs754494408    A colorectal cancer sample
ACIN1     Q9UKV3     VAR_050632  p.Arg257Lys    LB/B     rs11555803     -
ACIN1     Q9UKV3     VAR_061547  p.Ala447Pro    LB/B     rs941719       -
ACKR1     Q16570     VAR_003480  p.Gly42Asp     LB/B     rs12075        -
ACKR1     Q16570     VAR_015068  p.Arg89Cys     LB/B     rs34599082     -
ACKR1     Q16570     VAR_015069  p.Ala100Thr    LB/B     rs13962        -
ACKR1     Q16570     VAR_044116  p.Leu203Gln    LB/B     rs3027020      -
ACKR1     Q16570     VAR_044117  p.Ser326Phe    LB/B     rs17851570     -
ACKR2     O00590     VAR_024252  p.Tyr373Ser    LB/B     rs2228468      -
ACKR2     O00590     VAR_049379  p.Val41Ala     LB/B     rs2228467      -
ACKR2     O00590     VAR_049380  p.Ala248Val    LB/B     rs2228469      -
ACKR2     O00590     VAR_049381  p.Leu311Val    LB/B     rs6779520      -
ACKR3     P25106     VAR_027477  p.Leu219Trp    LB/B     rs10183641     -
ACLY      P53396     VAR_028230  p.Glu175Asp    LB/B     rs2304497      -
ACO1      P21399     VAR_048180  p.Ala395Asp    LB/B     rs3814519      -
ACO1      P21399     VAR_048181  p.Gly486Arg    LB/B     rs34630459     -
ACO1      P21399     VAR_069413  p.Thr318Met    LB/B     rs150373174    -
ACO2      Q99798     VAR_033297  p.Ala768Ser    LB/B     rs1804785      -
ACO2      Q99798     VAR_036572  p.Thr697Asn    US       -              A breast cancer sample
ACO2      Q99798     VAR_067543  p.Ser112Arg    LP/P     rs786200924    Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]
ACO2      Q99798     VAR_073435  p.Leu74Val     LP/P     rs141772938    Optic atrophy 9 (OPA9) [MIM:616289]
ACO2      Q99798     VAR_073436  p.Gly259Asp    LP/P     rs786204828    Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]
ACO2      Q99798     VAR_073437  p.Gly661Arg    LP/P     rs752034900    Optic atrophy 9 (OPA9) [MIM:616289]
ACO2      Q99798     VAR_073438  p.Lys736Asn    LP/P     rs786204829    Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]
ACOT1     Q86TX2     VAR_059830  p.Arg266His    LB/B     rs1049568      -
ACOT11    Q8WXI4     VAR_022119  p.Pro165Leu    LB/B     rs2304306      -
ACOT11    Q8WXI4     VAR_022120  p.Gly202Asp    LB/B     rs1702003      -
ACOT11    Q8WXI4     VAR_022121  p.Met212Ile    LB/B     rs2304305      -
ACOT11    Q8WXI4     VAR_048190  p.Arg11Trp     LB/B     rs34630746     -
ACOT11    Q8WXI4     VAR_048191  p.Arg536His    LB/B     rs12403630     -
ACOT12    Q8WYK0     VAR_048192  p.Val230Ile    LB/B     rs34607174     -
ACOT12    Q8WYK0     VAR_048193  p.Ala403Thr    LB/B     rs10371        -
ACOT12    Q8WYK0     VAR_064691  p.Leu190His    US       -              -
ACOT2     P49753     VAR_016136  p.His475Arg    LB/B     rs7494         -
ACOT2     P49753     VAR_057271  p.Arg16Ser     LB/B     rs11545741     -
ACOT4     Q8N9L9     VAR_052300  p.Arg57Cys     LB/B     rs3742819      -
ACOT4     Q8N9L9     VAR_052301  p.Ala187Asp    LB/B     rs35724886     -
ACOT6     Q3I5F7     VAR_052302  p.Glu166Lys    LB/B     rs17782052     -
ACOT9     Q9Y305     VAR_062668  p.Asn305His    US       -              A pancreatic ductal adenocarcinoma sample
ACOX1     Q15067     VAR_021529  p.Ile312Met    LB/B     rs1135640      -
ACOX1     Q15067     VAR_025789  p.Gly178Cys    LP/P     rs118204091    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_025790  p.Met278Val    LP/P     rs118204090    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_030619  p.Thr153Ile    LB/B     rs17855420     -
ACOX1     Q15067     VAR_048182  p.Gly101Ser    LB/B     rs3744032      -
ACOX1     Q15067     VAR_067041  p.Ser184Leu    LP/P     rs780887410    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_067042  p.Gly231Val    LP/P     -              Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_067043  p.Gln309Arg    LP/P     rs118204092    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_067044  p.Ser310Pro    LP/P     rs758962364    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_083893  p.Asn237Ser    LP/P     rs1567876984   Mitchell syndrome (MITCH) [MIM:618960]
ACOX2     Q99424     VAR_078765  p.Arg225Trp    LP/P     rs150832314    Congenital bile acid synthesis defect 6 (CBAS6) [MIM:617308]
ACOX3     O15254     VAR_030802  p.Glu34Ala     LB/B     rs12513296     -
ACOX3     O15254     VAR_030803  p.Asp497Asn    LB/B     rs13434465     -
ACOXL     Q9NUZ1     VAR_035164  p.Thr255Met    LB/B     rs1554005      -
ACOXL     Q9NUZ1     VAR_035165  p.Pro535Leu    LB/B     rs17041850     -
ACP1      P24666     VAR_006171  p.Gln106Arg    LB/B     rs79716074     -
ACP1      P24666     VAR_050526  p.Lys7Asn      LB/B     rs11691572     -
ACP1      P24666     VAR_050527  p.Ser137Phe    LB/B     rs35569198     -
ACP2      P11117     VAR_027801  p.Arg29Gln     LB/B     rs2167079      -
ACP2      P11117     VAR_034394  p.Ser320Phe    LB/B     rs34425282     -
ACP2      P11117     VAR_050519  p.Val402Ile    LB/B     rs4647764      -
ACP3      P15309     VAR_047960  p.Ser15Asn     LB/B     rs17850347     -
ACP3      P15309     VAR_047961  p.Phe124Val    LB/B     rs17856254     -
ACP3      P15309     VAR_047962  p.Trp226Arg    LB/B     rs17856253     -
ACP3      P15309     VAR_047963  p.Tyr330His    LB/B     rs17851392     -
ACP3      P15309     VAR_047964  p.Val360Ala    LB/B     rs17850198     -
ACP4      Q9BZG2     VAR_078014  p.Arg76Cys     LP/P     rs1057519277   Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
ACP4      Q9BZG2     VAR_078015  p.Arg111Cys    LP/P     rs202073531    Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
ACP4      Q9BZG2     VAR_078016  p.Ala128Pro    US       rs767907487    Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
ACP4      Q9BZG2     VAR_078017  p.Glu133Lys    US       rs779823931    Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
ACP4      Q9BZG2     VAR_078018  p.Ser238Leu    LP/P     rs763573828    Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
ACP5      P13686     VAR_020602  p.Val148Met    LB/B     rs2305799      -
ACP5      P13686     VAR_020603  p.Val200Met    LB/B     rs2229531      -
ACP5      P13686     VAR_029288  p.Val221Ile    LB/B     rs2229532      -
ACP5      P13686     VAR_065920  p.Lys52Met     LP/P     -              Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065921  p.Thr89Ile     LP/P     rs387906668    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065922  p.Gly109Arg    LP/P     rs781050795    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065923  p.Leu201Pro    LP/P     rs387906672    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065924  p.Gly215Arg    LP/P     rs781199182    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065925  p.Asp241Asn    LP/P     -              Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065926  p.Asn262His    LP/P     rs1449857485   Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065927  p.Met264Lys    LP/P     rs387906670    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP6      Q9NPH0     VAR_022678  p.Met316Val    LB/B     rs6593795      -
ACR       P10323     VAR_011650  p.Leu120Val    LB/B     rs1064734      -
ACR       P10323     VAR_011651  p.Phe166Leu    LB/B     rs1064735      -
ACRBP     Q8NEB7     VAR_050633  p.Thr336Ala    LB/B     rs3741923      -
ACRV1     P26436     VAR_050680  p.Gly126Arg    LB/B     rs34788353     -
ACSBG1    Q96GR2     VAR_038314  p.Glu194Val    LB/B     rs12899901     -
ACSBG1    Q96GR2     VAR_038315  p.Met633Val    LB/B     rs2304824      -
ACSBG1    Q96GR2     VAR_038316  p.Ala673Val    LB/B     rs11072735     -
ACSBG2    Q5FVE4     VAR_038317  p.Val143Ala    LB/B     rs4807840      -
ACSBG2    Q5FVE4     VAR_038318  p.Lys152Arg    LB/B     rs33937754     -
ACSBG2    Q5FVE4     VAR_038319  p.Gly584Asp    LB/B     rs17851959     -
ACSBG2    Q5FVE4     VAR_038320  p.Gly586Asp    LB/B     rs17851960     -
ACSBG2    Q5FVE4     VAR_038321  p.Pro601Arg    LB/B     rs35609668     -
ACSBG2    Q5FVE4     VAR_038322  p.Arg624Lys    LB/B     rs17856650     -
ACSBG2    Q5FVE4     VAR_038323  p.Glu626Gln    LB/B     rs17856651     -
ACSBG2    Q5FVE4     VAR_038324  p.Arg650Ser    LB/B     rs35605352     -
ACSF2     Q96CM8     VAR_038304  p.Gly75Val     LB/B     rs17856448     -
ACSF2     Q96CM8     VAR_038305  p.Val316Met    LB/B     rs3744523      -
ACSF3     Q4G176     VAR_038306  p.Leu2Pro      LB/B     rs7188200      -
ACSF3     Q4G176     VAR_038307  p.Ala17Pro     LB/B     rs11547019     -
ACSF3     Q4G176     VAR_038308  p.Val372Met    LB/B     rs3743979      -
ACSF3     Q4G176     VAR_066504  p.Met198Arg    LP/P     rs387907121    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066505  p.Pro243Leu    LP/P     rs140986055    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066506  p.Thr358Ile    LP/P     rs387907120    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066507  p.Glu359Lys    LP/P     rs150487794    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066508  p.Lys462Thr    LP/P     rs1362504214   Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066510  p.Arg471Gln    LP/P     rs387907119    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066511  p.Arg471Trp    LP/P     rs138680796    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066512  p.Gly480Ser    LP/P     -              Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066513  p.Arg558Trp    LP/P     rs141090143    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSL3     O95573     VAR_026716  p.Phe551Ser    LB/B     rs1046032      -
ACSL4     O60488     VAR_013180  p.Arg570Ser    LP/P     rs122458138    Mental retardation, X-linked 63 (MRX63) [MIM:300387]
ACSL4     O60488     VAR_036376  p.Arg133Cys    US       rs753267653    A colorectal cancer sample
ACSL4     O60488     VAR_083476  p.Asp379Asn    LB/B     -              -
ACSL5     Q9ULC5     VAR_022117  p.Met182Val    LB/B     rs3736946      -
ACSL5     Q9ULC5     VAR_036377  p.Lys388Arg    US       -              A colorectal cancer sample
ACSL5     Q9ULC5     VAR_036378  p.Gly466Asp    US       -              A colorectal cancer sample
ACSL5     Q9ULC5     VAR_048240  p.Thr486Ala    LB/B     rs12254915     -
ACSM1     Q08AH1     VAR_035245  p.Ile479Val    LB/B     rs8056709      -
ACSM1     Q08AH1     VAR_035246  p.Ile515Thr    LB/B     rs16970453     -
ACSM1     Q08AH1     VAR_048238  p.Ile272Met    LB/B     rs16970511     -
ACSM2A    Q08AH3     VAR_035247  p.Ser513Leu    LB/B     rs1133607      -
ACSM2A    Q08AH3     VAR_035248  p.Ala561Thr    LB/B     rs1054977      -
ACSM2A    Q08AH3     VAR_058692  p.Val335Leu    LB/B     rs4643305      -
ACSM2A    Q08AH3     VAR_058694  p.Val337Gly    LB/B     rs4586421      -
ACSM3     Q53FZ2     VAR_035249  p.Leu100Pro    LB/B     rs5713         -
ACSM3     Q53FZ2     VAR_035250  p.Pro308Thr    LB/B     rs7196188      -
ACSM3     Q53FZ2     VAR_035251  p.Lys367Asn    LB/B     rs5716         -
ACSM3     Q53FZ2     VAR_048239  p.Asp270His    LB/B     rs13306603     -
ACSM4     P0C7M7     VAR_061010  p.Arg481His    LB/B     rs61584783     -
ACSM5     Q6NUN0     VAR_035252  p.Gln159His    LB/B     rs559741756    -
ACSM5     Q6NUN0     VAR_035253  p.Pro352Arg    LB/B     rs8062344      -
ACSM5     Q6NUN0     VAR_035254  p.His360Arg    LB/B     rs12931877     -
ACSM5     Q6NUN0     VAR_035255  p.Thr533Met    LB/B     rs554734865    -
ACSM5     Q6NUN0     VAR_055495  p.Arg65Gln     LB/B     rs9928053      -
ACSM5     Q6NUN0     VAR_055496  p.Glu182Lys    LB/B     rs7192210      -
ACSM5     Q6NUN0     VAR_061011  p.Met217Val    LB/B     rs59025904     -
ACSM6     Q6P461     VAR_043606  p.Lys227Arg    LB/B     rs7090248      -
ACSM6     Q6P461     VAR_063090  p.Glu19Gly     LB/B     rs591157       -
ACSM6     Q6P461     VAR_063091  p.Cys40Ser     LB/B     rs11188225     -
ACSS1     Q9NUB1     VAR_048184  p.Val488Met    LB/B     rs6050249      -
ACTA1     P68133     VAR_011680  p.Gly17Arg     LP/P     rs121909521    Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
ACTA1     P68133     VAR_011681  p.Leu96Pro     LP/P     rs121909519    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011682  p.Asn117Ser    LP/P     rs121909520    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011683  p.Ile138Met    LP/P     rs121909526    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011684  p.Val165Leu    LP/P     rs121909522    Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
ACTA1     P68133     VAR_011685  p.Glu261Val    LP/P     rs121909523    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011686  p.Gly270Cys    LP/P     rs121909525    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011687  p.Val372Phe    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_013470  p.Met134Val    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_013471  p.Met271Arg    LP/P     rs1553255360   Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015579  p.His42Tyr     LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015580  p.Gly184Asp    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015581  p.Arg185Gly    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015582  p.Arg185Cys    LP/P     rs1064794287   Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015583  p.Arg258His    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015584  p.Gln265Leu    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015585  p.Asn282Lys    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015586  p.Asp288Gly    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015587  p.Ile359Leu    LP/P     rs121909524    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_032917  p.Leu223Pro    LP/P     rs121909530    Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1     P68133     VAR_032918  p.Asp294Val    LP/P     rs121909529    Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1     P68133     VAR_032919  p.Pro334Ser    LP/P     rs121909531    Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1     P68133     VAR_062424  p.Asp3Tyr      LP/P     rs121909527    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062425  p.Asp27Asn     LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062426  p.Val37Leu     LP/P     rs1553255521   Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062427  p.Pro40Leu     LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062428  p.Gln43Arg     LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062429  p.Gly44Val     LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062430  p.Val45Phe     LP/P     rs398123562    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062431  p.Ile66Asn     LP/P     rs1553255502   Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062432  p.Thr68Ile     LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062433  p.Glu74Lys     LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062434  p.His75Leu     LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062435  p.His75Arg     LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062436  p.Ile77Leu     LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062437  p.Thr79Ala     LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062438  p.Glu85Lys     LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062439  p.Ala116Thr    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062440  p.Asn117Thr    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062441  p.Arg118His    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062442  p.Val136Ala    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062443  p.Ala140Pro    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062444  p.Leu142Pro    LP/P     rs1553255482   Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062445  p.Gly148Asp    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062446  p.Thr150Asn    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062447  p.Asp156Asn    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062448  p.Val165Met    LP/P     rs121909522    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062449  p.Ala172Gly    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062450  p.Asp181Gly    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062451  p.Asp181His    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062452  p.Asp181Asn    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062453  p.Arg185Asp    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062454  p.Arg185Ser    LP/P     rs1064794287   Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062455  p.Arg198Leu    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062456  p.Gly199Ser    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062457  p.Glu226Gly    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062458  p.Glu226Gln    LP/P     rs1057521118   Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062459  p.Asn227Val    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062460  p.Met229Ile    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062461  p.Met229Thr    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062462  p.Met229Val    LP/P     rs794727714    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062463  p.Glu243Lys    LP/P     rs367543051    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062464  p.Gln248Lys    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062465  p.Gln248Arg    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062466  p.Gly253Asp    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062467  p.Arg258Leu    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062468  p.Gly270Asp    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062469  p.Gly270Arg    LP/P     rs121909525    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062470  p.Ala274Glu    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062471  p.Tyr281His    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062472  p.Met285Lys    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062473  p.Glu336Ala    LP/P     rs121909528    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062474  p.Lys338Glu    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062475  p.Lys338Ile    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062476  p.Ser350Leu    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062477  p.Arg374Ser    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062478  p.Lys375Glu    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062479  p.Lys375Gln    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_076426  p.Glu197Asp    LP/P     rs869312739    Myopathy, scapulohumeroperoneal (SHPM) [MIM:616852]
ACTA1     P68133     VAR_076427  p.Lys328Asn    LP/P     rs398122936    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_076428  p.Trp358Cys    LP/P     rs587777354    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_083589  p.Pro72Arg     LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_083590  p.Ala116Val    LP/P     -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA2     P62736     VAR_011944  p.Thr196Ser    LB/B     rs1803028      -
ACTA2     P62736     VAR_011945  p.Thr320Ala    LB/B     rs1803027      -
ACTA2     P62736     VAR_011946  p.His373Pro    LB/B     rs1062398      -
ACTA2     P62736     VAR_045915  p.Asn117Thr    LP/P     -              Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045916  p.Arg118Gln    LP/P     rs112602953    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045917  p.Tyr135His    LP/P     rs751300489    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045918  p.Arg149Cys    LP/P     rs121434526    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045919  p.Val154Ala    LP/P     rs1554841298   Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045920  p.Arg258Cys    LP/P     rs121434528    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045921  p.Arg258His    LP/P     rs121434527    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045922  p.Arg292Gly    LP/P     -              Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045923  p.Thr353Asn    LP/P     -              Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_062577  p.Arg39His     LP/P     rs794728021    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_062578  p.Tyr145Cys    LP/P     -              Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_062579  p.Arg185Gln    LP/P     rs1057521105   Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_062580  p.Arg212Gln    LP/P     rs397516685    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_062581  p.Thr326Asn    LP/P     rs777832794    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_064516  p.Arg179His    LP/P     rs387906592    Moyamoya disease 5 (MYMY5) [MIM:614042]
ACTA2     P62736     VAR_064516  p.Arg179His    LP/P     rs387906592    Multisystemic smooth muscle dysfunction syndrome (MSMDS) [MIM:613834]
ACTB      P60709     VAR_030026  p.Arg183Trp    LP/P     rs104894003    Dystonia, juvenile-onset (DJO) [MIM:607371]
ACTB      P60709     VAR_048185  p.Pro243Leu    LB/B     rs11546899     -
ACTB      P60709     VAR_067810  p.Asn12Asp     LP/P     rs281875331    Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
ACTB      P60709     VAR_067811  p.Leu65Val     LP/P     rs281875332    Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
ACTB      P60709     VAR_067812  p.Arg196Cys    LP/P     rs281875333    Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
ACTB      P60709     VAR_067813  p.Arg196His    LP/P     rs281875334    Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
ACTC1     P68032     VAR_012857  p.Glu101Lys    LP/P     rs193922680    Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_012858  p.Pro166Ala    LP/P     rs267606628    Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_012859  p.Ala297Ser    LP/P     rs121912675    Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_012860  p.Arg314His    LP/P     rs121912673    Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]
ACTC1     P68032     VAR_012861  p.Ala333Pro    LP/P     rs267606629    Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_012862  p.Glu363Gly    LP/P     rs121912674    Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]
ACTC1     P68032     VAR_045924  p.His90Tyr     LP/P     rs121912676    Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_045925  p.Arg97Cys     LP/P     rs759495229    Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_046502  p.Met125Val    LP/P     rs121912677    Atrial septal defect 5 (ASD5) [MIM:612794]
ACTC1     P68032     VAR_046503  p.Tyr168Cys    LP/P     -              Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_046504  p.Met307Leu    LP/P     -              Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTG1     P63261     VAR_032434  p.Thr89Ile     LP/P     rs28999111     Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032435  p.Lys118Met    LP/P     rs104894544    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032436  p.Pro264Leu    LP/P     rs104894546    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032437  p.Thr278Ile    LP/P     rs28999112     Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032438  p.Pro332Ala    LP/P     rs104894545    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032439  p.Val370Ala    LP/P     rs104894547    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_048186  p.Thr160Ile    LB/B     rs11549206     -
ACTG1     P63261     VAR_067814  p.Thr120Ile    LP/P     rs281875325    Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1     P63261     VAR_067815  p.Ala135Val    LP/P     rs11549190     Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1     P63261     VAR_067816  p.Ser155Phe    LP/P     rs281875326    Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1     P63261     VAR_067817  p.Thr203Lys    LP/P     rs281875327    Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1     P63261     VAR_067818  p.Arg254Trp    LP/P     rs281875328    Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1     P63261     VAR_067819  p.Arg256Trp    LP/P     rs281875329    Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1     P63261     VAR_067824  p.Lys118Asn    LP/P     rs267606630    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_067825  p.Ile122Val    LP/P     rs281875330    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_067826  p.Glu241Lys    LP/P     rs267606631    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_079849  p.Pro70Leu     US       -              -
ACTG1     P63261     VAR_079878  p.Asp187His    LP/P     -              Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_079879  p.Glu316Lys    US       -              Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG2     P63267     VAR_071279  p.Arg40Cys     LP/P     rs587777385    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071280  p.Arg40His     LP/P     rs587777386    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071281  p.Met45Thr     LP/P     rs864309490    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071282  p.Arg63Gly     LP/P     rs864309491    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071283  p.Pro110Leu    LP/P     -              Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071284  p.Tyr134Asn    LP/P     rs587777388    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071285  p.Arg148Ser    LP/P     rs587777383    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071286  p.Arg178Cys    LP/P     rs78001248     Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071287  p.Arg178His    LP/P     rs587777384    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071288  p.Arg178Leu    LP/P     rs587777384    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071289  p.Gly198Asp    LP/P     rs864309492    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071290  p.Arg257Cys    LP/P     rs587777387    Visceral myopathy (VSCM) [MIM:155310]
ACTL6A    O96019     VAR_079728  p.Glu227Gln    US       rs1035631360   -
ACTL6A    O96019     VAR_079729  p.Arg377Trp    LP/P     rs868064163    -
ACTL6B    O94805     VAR_082123  p.Asp77Gly     US       rs1562851259   Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) [MIM:618470]
ACTL6B    O94805     VAR_082125  p.Arg130Gln    US       rs757603505    Developmental and epileptic encephalopathy 76 (DEE76) [MIM:618468]
ACTL6B    O94805     VAR_082128  p.Leu206Pro    LP/P     rs1562848909   Developmental and epileptic encephalopathy 76 (DEE76) [MIM:618468]
ACTL6B    O94805     VAR_082134  p.Gly343Arg    LP/P     rs1131692228   Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) [MIM:618470]
ACTL6B    O94805     VAR_082135  p.Gly349Ser    LP/P     rs955171017    Developmental and epileptic encephalopathy 76 (DEE76) [MIM:618468]
ACTL7A    Q9Y615     VAR_024362  p.Val340Met    LB/B     rs7872077      -
ACTL7A    Q9Y615     VAR_031425  p.Arg45Cys     LB/B     rs368653764    -
ACTL7A    Q9Y615     VAR_033460  p.Ala161Pro    LB/B     rs35995497     -
ACTL7A    Q9Y615     VAR_060998  p.Leu343Val    LB/B     rs56031956     -
ACTL8     Q9H568     VAR_032079  p.Ala3Ser      LB/B     rs694214       -
ACTL8     Q9H568     VAR_032080  p.Arg245Cys    LB/B     rs3795322      -
ACTL9     Q8TC94     VAR_043000  p.Phe37Ser     LB/B     rs2340550      -
ACTL9     Q8TC94     VAR_043001  p.Ala42Asp     US       -              A colorectal cancer sample
ACTL9     Q8TC94     VAR_043002  p.Val51Ala     LB/B     rs10410943     -
ACTL9     Q8TC94     VAR_043003  p.His227Asn    LB/B     rs4804079      -
ACTL9     Q8TC94     VAR_043004  p.Ala332Thr    US       rs782721280    A colorectal cancer sample
ACTN1     P12814     VAR_053883  p.Asn707Thr    LB/B     rs7157661      -
ACTN1     P12814     VAR_053884  p.Thr868Ser    LB/B     rs11557769     -
ACTN1     P12814     VAR_069910  p.Gln32Lys     LP/P     rs387907346    Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069911  p.Arg46Gln     LP/P     rs387907348    Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069912  p.Val105Ile    LP/P     rs387907345    Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069913  p.Arg197Trp    LB/B     rs904887313    -
ACTN1     P12814     VAR_069914  p.Glu225Lys    LP/P     rs387907350    Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069915  p.Arg738Trp    LP/P     rs387907349    Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069916  p.Arg752Gln    LP/P     rs387907347    Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN2     P35609     VAR_033487  p.Met604Val    LB/B     rs35997569     -
ACTN2     P35609     VAR_054628  p.Gln9Arg      LP/P     rs121434525    Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158]
ACTN2     P35609     VAR_071970  p.Ala119Thr    LP/P     rs727502886    Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158]
ACTN2     P35609     VAR_071970  p.Ala119Thr    LP/P     rs727502886    Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
ACTN2     P35609     VAR_071971  p.Thr495Met    LP/P     rs200248944    Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
ACTN2     P35609     VAR_071972  p.Glu583Ala    LP/P     rs200631005    Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
ACTN2     P35609     VAR_071973  p.Glu628Gly    LP/P     rs786204951    Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
ACTN2     P35609     VAR_074292  p.Met228Thr    LP/P     rs786205144    Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
ACTN2     P35609     VAR_083364  p.Leu131Pro    US       -              Myopathy, distal, 6, adult onset, autosomal dominant (MPD6) [MIM:618655]
ACTN2     P35609     VAR_083365  p.Cys487Arg    LP/P     -              Myopathy, distal, 6, adult onset, autosomal dominant (MPD6) [MIM:618655]
ACTN2     P35609     VAR_083366  p.Leu727Arg    LP/P     -              Myopathy, congenital, with structured cores and Z-line abnormalities (MYOCOZ) [MIM:618654]
ACTN3     Q08043     VAR_012705  p.Arg523Gln    LB/B     rs1671064      -
ACTN3     Q08043     VAR_033488  p.Glu635Ala    LB/B     rs2229456      -
ACTN3     Q08043     VAR_047528  p.Cys628Arg    LB/B     rs618838       -
ACTN3     Q08043     VAR_047529  p.Gln776Arg    LB/B     rs540874       -
ACTN4     O43707     VAR_010378  p.Lys255Glu    LP/P     rs121908415    Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_010379  p.Thr259Ile    LP/P     rs121908416    Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_010380  p.Ser262Pro    LP/P     rs121908417    Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_072115  p.Ser262Phe    LP/P     -              Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_072116  p.Ala427Thr    LP/P     rs201128110    Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_072117  p.Asn748Asp    LP/P     -              Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_072118  p.Ala784Val    US       rs771421233    -
ACTN4     O43707     VAR_072119  p.Gly786Arg    LB/B     -              -
ACTN4     O43707     VAR_072120  p.Pro787Leu    LB/B     -              -
ACTN4     O43707     VAR_072121  p.Pro787Ser    LB/B     -              -
ACTN4     O43707     VAR_072122  p.Cys793Tyr    US       -              -
ACTN4     O43707     VAR_072123  p.Gly798Asp    US       -              -
ACTN4     O43707     VAR_072124  p.Val801Met    LB/B     rs141727248    -
ACTN4     O43707     VAR_079797  p.Trp59Arg     LP/P     -              Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_079798  p.Glu72Gln     LP/P     -              Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_079799  p.Phe153Leu    US       -              Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_079800  p.Arg310Gln    US       rs112545413    Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTR1B    P42025     VAR_025315  p.Val93Ala     LB/B     rs11547231     -
ACTR1B    P42025     VAR_048187  p.Ala143Val    LB/B     rs11692435     -
ACTR3B    Q9P1U1     VAR_048188  p.Arg250Gln    LB/B     rs2260545      -
ACTR5     Q9H9F9     VAR_027158  p.Arg298Leu    LB/B     rs17853829     -
ACTR5     Q9H9F9     VAR_027159  p.Ile483Val    LB/B     rs2245231      -
ACTR5     Q9H9F9     VAR_027160  p.Pro580Leu    LB/B     rs3752289      -
ACTR5     Q9H9F9     VAR_048189  p.Ile461Leu    LB/B     rs35805905     -
ACTR8     Q9H981     VAR_028033  p.Thr56Ile     LB/B     rs3733082      -
ACTRT1    Q8TDG2     VAR_080907  p.Glu124Lys    US       -              -
ACTRT2    Q8TDY3     VAR_020416  p.Gly247Arg    LB/B     rs3795263      -
ACTRT3    Q9BYD9     VAR_055483  p.Glu234Lys    LB/B     rs2068178      -
ACVR1     Q04771     VAR_028444  p.Arg206His    LP/P     rs121912678    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_041392  p.Ala15Gly     LB/B     rs13406336     -
ACVR1     Q04771     VAR_041393  p.Ser41Phe     LB/B     rs55957214     -
ACVR1     Q04771     VAR_041394  p.His47Gln     LB/B     rs34056189     -
ACVR1     Q04771     VAR_041395  p.Pro115Ser    US       -              A melanoma sample
ACVR1     Q04771     VAR_058419  p.Arg202Ile    LP/P     rs387906591    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058420  p.Gln207Glu    LP/P     -              Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058421  p.Gly328Glu    LP/P     rs387906589    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058422  p.Gly328Arg    LP/P     rs387906588    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058423  p.Gly328Trp    LP/P     rs387906588    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058424  p.Gly356Asp    LP/P     rs121912679    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058425  p.Arg375Pro    LP/P     rs387906590    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1B    P36896     VAR_011716  p.Leu408Val    LB/B     rs928906       -
ACVR1B    P36896     VAR_041406  p.Phe146Leu    LB/B     rs34488074     -
ACVR1C    Q8NER5     VAR_041407  p.Ile195Thr    LB/B     rs56188432     -
ACVR1C    Q8NER5     VAR_041408  p.Gly216Arg    LB/B     rs34742924     -
ACVR1C    Q8NER5     VAR_041409  p.Trp267Arg    US       -              A lung squamous cell carcinoma sample
ACVR1C    Q8NER5     VAR_041410  p.Ile355Val    LB/B     rs35500979     -
ACVR1C    Q8NER5     VAR_041411  p.Ile482Val    LB/B     rs7594480      -
ACVR2A    P27037     VAR_032809  p.Ser258Arg    LB/B     rs34917571     -
ACVR2A    P27037     VAR_032810  p.Asp306Asn    US       rs764255410    A gastric adenocarcinoma sample
ACVR2A    P27037     VAR_064692  p.Ala367Thr    US       -              -
ACVR2B    Q13705     VAR_013281  p.Arg40His     LP/P     rs121434437    Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]
ACVR2B    Q13705     VAR_013282  p.Val494Ile    LP/P     rs121434438    Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]
ACVR2B    Q13705     VAR_041396  p.Pro176Arg    LB/B     rs35882617     -
ACVR2B    Q13705     VAR_050594  p.Glu459Asp    LB/B     rs500611       -
ACVRL1    P37023     VAR_006204  p.Trp50Cys     LP/P     rs121909285    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006205  p.Cys51Tyr     LP/P     rs863223409    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006206  p.Arg67Gln     LP/P     rs863223414    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006207  p.Cys77Trp     LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006208  p.Asn96Asp     LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006210  p.Ser333Ile    LP/P     rs863223413    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006211  p.Arg374Trp    LP/P     rs28936401     Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006212  p.Met376Arg    LP/P     rs28936399     Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006213  p.Arg411Gln    LP/P     rs121909284    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006214  p.Pro424Thr    LP/P     rs1085307419   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_011717  p.Ile245Asn    LB/B     rs1804508      -
ACVRL1    P37023     VAR_026785  p.Gly48Arg     LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026786  p.Arg67Trp     LP/P     rs1085307405   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026787  p.Asp179Ala    LP/P     rs753792569    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026788  p.Gly211Asp    LP/P     rs28936687     Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026789  p.Glu215Lys    LP/P     rs754283265    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026790  p.Gly223Arg    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026791  p.Lys229Arg    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026794  p.Leu285Phe    LP/P     rs1085307410   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026795  p.Ala306Pro    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026796  p.His314Tyr    LP/P     rs1565594311   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026797  p.Leu337Pro    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026798  p.Cys344Tyr    LP/P     rs28936688     Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026799  p.Ala347Pro    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026800  p.Arg374Gln    LP/P     rs1060503248   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026801  p.Met376Val    LP/P     rs1555153277   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026802  p.Pro378Leu    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026803  p.Glu379Lys    LP/P     rs1131691686   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026804  p.Asp397Gly    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026805  p.Ile398Asn    LP/P     rs121909286    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026806  p.Trp399Ser    LP/P     rs121909289    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026807  p.Glu407Asp    LP/P     rs1565595129   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026808  p.Arg411Pro    LP/P     rs121909284    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026809  p.Arg411Trp    LP/P     rs121909287    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026810  p.Phe425Leu    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026811  p.Phe425Val    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026813  p.Arg479Leu    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026814  p.Ala482Val    LP/P     rs139142865    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026815  p.Arg484Trp    LP/P     rs121909288    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026816  p.Lys487Thr    LP/P     rs1085307428   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070308  p.Pro30Ser     US       rs149664056    -
ACVRL1    P37023     VAR_070309  p.Cys34Tyr     LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070310  p.Ser38Cys     LB/B     -              -
ACVRL1    P37023     VAR_070311  p.Trp50Gly     LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070312  p.Thr52Ala     LP/P     rs1131691346   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070313  p.His66Pro     LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070314  p.Cys69Arg     LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070315  p.Asn96Ser     LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070316  p.Leu138Pro    LB/B     -              -
ACVRL1    P37023     VAR_070317  p.Asp176Tyr    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070318  p.Thr197Ile    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070319  p.Trp217Gly    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070320  p.Gly219Asp    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070321  p.Val226Glu    LP/P     rs1565593639   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070322  p.Ser233Leu    LP/P     rs762773076    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070323  p.Gln237Lys    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070324  p.Ile260Leu    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070325  p.Thr265Pro    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070326  p.Thr277Lys    US       -              -
ACVRL1    P37023     VAR_070327  p.His280Arg    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070328  p.Leu289Pro    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070329  p.Leu294Arg    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070330  p.His328Gln    LP/P     rs1565594410   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070331  p.Asn335His    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070332  p.Leu342Pro    LB/B     -              -
ACVRL1    P37023     VAR_070333  p.Cys344Arg    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070334  p.Ala347Asp    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070335  p.Pro378Ser    LP/P     rs959973779    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070336  p.Ala400Thr    US       -              -
ACVRL1    P37023     VAR_070337  p.Leu403Pro    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070338  p.Gly416Ser    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070339  p.Pro424Arg    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070340  p.Tyr426Cys    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070341  p.Pro433Arg    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070342  p.Pro449Ser    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070343  p.Arg479Pro    LP/P     rs1085307426   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070344  p.Lys486Glu    US       rs113700354    -
ACVRL1    P37023     VAR_075231  p.Cys41Gly     LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075232  p.Cys41Tyr     LP/P     rs1184716348   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075233  p.Cys46Gly     LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075234  p.Arg47Pro     LP/P     rs774389618    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075235  p.His66Tyr     LP/P     rs1480110873   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075236  p.Cys77Phe     LP/P     rs1330837892   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075237  p.Glu111Asp    LB/B     rs1481094868   -
ACVRL1    P37023     VAR_075238  p.Gly211Ser    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075239  p.Ile245Val    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075240  p.Leu313Val    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075241  p.Glu379Asp    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075242  p.Val404Gly    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075243  p.Ile417Phe    LB/B     rs141653630    -
ACVRL1    P37023     VAR_075244  p.Val441Met    LP/P     rs1565596498   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075245  p.Cys443Tyr    LP/P     -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_079583  p.Lys8Asn      LB/B     -              -
ACVRL1    P37023     VAR_079584  p.Glu59Val     US       rs1466116430   -
ACVRL1    P37023     VAR_079585  p.Glu159Val    US       -              -
ACVRL1    P37023     VAR_079586  p.Ser225Cys    US       -              -
ACVRL1    P37023     VAR_079587  p.Thr396Ala    US       -              -
ACY1      Q03154     VAR_020452  p.Arg386Cys    LP/P     rs2229152      Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_026104  p.Glu233Asp    LP/P     rs121912699    Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_026105  p.Arg353Cys    LP/P     rs121912698    Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_036076  p.Glu381Asp    US       -              A breast cancer sample
ACY1      Q03154     VAR_043113  p.Arg197Trp    LP/P     rs121912700    Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_043114  p.Arg393His    LP/P     rs121912701    Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_051805  p.Asn179Ser    LB/B     rs887540       -
ACY1      Q03154     VAR_065562  p.Arg378Gln    LP/P     rs150480963    Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_065563  p.Arg378Trp    LP/P     rs148346337    Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY3      Q96HD9     VAR_048341  p.Arg8Gln      LB/B     rs948445       -
ACY3      Q96HD9     VAR_048342  p.Val281Met    LB/B     rs2290959      -
ADA       P00813     VAR_002209  p.Asp8Asn      LB/B     rs73598374     -
ADA       P00813     VAR_002210  p.His15Asp     LP/P     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     LP/P     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     LP/P     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     LP/P     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     LB/B     rs11555566     -
ADA       P00813     VAR_002215  p.Ala83Asp     LP/P     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    LP/P     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    LP/P     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    LP/P     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    LP/P     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    LP/P     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    LP/P     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    US       rs61732239     A pancreatic ductal adenocarcinoma sample
ADA       P00813     VAR_002223  p.Arg149Gln    LP/P     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    LP/P     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    LB/B     rs121908728    -
ADA       P00813     VAR_002226  p.Arg156Cys    LP/P     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    LP/P     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    LP/P     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    LP/P     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    LP/P     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    LP/P     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    LP/P     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    LP/P     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    LP/P     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    LB/B     rs121908729    -
ADA       P00813     VAR_002236  p.Pro274Leu    LP/P     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    LP/P     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    LP/P     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    LP/P     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    LP/P     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     US       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    US       rs267606635    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA2      Q9NZK5     VAR_029802  p.His335Arg    LB/B     rs2231495      -
ADA2      Q9NZK5     VAR_071137  p.Gly47Arg     LP/P     rs202134424    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071138  p.Gly47Val     LP/P     rs200930463    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071139  p.Ala109Asp    LP/P     rs587777240    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071140  p.His112Gln    LP/P     rs587777241    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071141  p.Arg169Gln    LP/P     rs77563738     Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071142  p.Pro251Leu    LP/P     rs148936893    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071143  p.Trp264Ser    LP/P     rs587777242    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071144  p.Tyr453Cys    LP/P     rs376785840    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_072562  p.Val119Ala    LP/P     -              Sneddon syndrome (SNDNS) [MIM:182410]
ADA2      Q9NZK5     VAR_072563  p.Gly142Ser    LP/P     -              Sneddon syndrome (SNDNS) [MIM:182410]
ADAD2     Q8NCV1     VAR_036976  p.Gly44Glu     LB/B     rs8044695      -
ADAD2     Q8NCV1     VAR_055650  p.Gly235Arg    LB/B     rs11149631     -
ADAM10    O14672     VAR_066309  p.His176Tyr    US       rs267604273    A cutaneous metastatic melanoma sample
ADAM10    O14672     VAR_070907  p.Pro139Ser    LP/P     rs483352912    Reticulate acropigmentation of Kitamura (RAK) [MIM:615537]
ADAM10    O14672     VAR_070908  p.Gln170His    LP/P     rs61751103     Alzheimer disease 18 (AD18) [MIM:615590]
ADAM10    O14672     VAR_070909  p.Arg181Gly    LP/P     rs145518263    Alzheimer disease 18 (AD18) [MIM:615590]
ADAM10    O14672     VAR_070910  p.Cys524Tyr    LP/P     rs483352916    Reticulate acropigmentation of Kitamura (RAK) [MIM:615537]
ADAM11    O75078     VAR_062669  p.Ser693Arg    US       -              A pancreatic ductal adenocarcinoma sample
ADAM12    O43184     VAR_036143  p.Asp301His    US       -              A breast cancer sample
ADAM12    O43184     VAR_036144  p.Gly479Glu    US       rs1459457663   A breast cancer sample
ADAM12    O43184     VAR_036145  p.Leu792Phe    US       -              A breast cancer sample
ADAM12    O43184     VAR_038542  p.Gly48Arg     LB/B     rs3740199      -
ADAM12    O43184     VAR_066310  p.Gly712Glu    US       -              A cutaneous metastatic melanoma sample
ADAM12    O43184     VAR_066311  p.Pro893Ser    US       rs151030407    A cutaneous metastatic melanoma sample
ADAM15    Q13444     VAR_060315  p.Lys191Thr    LB/B     rs6427128      -
ADAM15    Q13444     VAR_060316  p.Pro294His    LB/B     rs2306122      -
ADAM15    Q13444     VAR_068970  p.Glu216Lys    LB/B     rs115753757    -
ADAM17    P78536     VAR_051586  p.Lys162Glu    LB/B     rs34431503     -
ADAM17    P78536     VAR_051587  p.Arg202Gly    LB/B     rs2230818      -
ADAM18    Q9Y3Q7     VAR_051588  p.Val212Phe    LB/B     rs10093794     -
ADAM18    Q9Y3Q7     VAR_066312  p.Pro170Ser    US       rs267601916    A cutaneous metastatic melanoma sample
ADAM18    Q9Y3Q7     VAR_066313  p.Val284Gly    US       -              A cutaneous metastatic melanoma sample
ADAM18    Q9Y3Q7     VAR_066314  p.Met344Ile    US       rs267601918    A cutaneous metastatic melanoma sample
ADAM18    Q9Y3Q7     VAR_066315  p.Met362Lys    US       -              A cutaneous metastatic melanoma sample
ADAM18    Q9Y3Q7     VAR_066316  p.Ser536Leu    US       -              A cutaneous metastatic melanoma sample
ADAM19    Q9H013     VAR_036146  p.Arg133Gln    US       rs200894535    A colorectal cancer sample
ADAM19    Q9H013     VAR_036147  p.Ala298Thr    US       rs1178207005   A colorectal cancer sample
ADAM19    Q9H013     VAR_057066  p.Gly4Ser      LB/B     rs11465228     -
ADAM19    Q9H013     VAR_062670  p.His609Gln    US       -              A pancreatic ductal adenocarcinoma sample
ADAM2     Q99965     VAR_035217  p.Gly10Trp     LB/B     rs34800519     -
ADAM20    O43506     VAR_047311  p.Phe19Leu     LB/B     rs1059166      -
ADAM22    Q9P0K1     VAR_020057  p.Pro81Arg     LB/B     rs2279542      -
ADAM22    Q9P0K1     VAR_051589  p.His119Tyr    LB/B     rs4728730      -
ADAM22    Q9P0K1     VAR_051590  p.Val207Ile    LB/B     rs17255978     -
ADAM22    Q9P0K1     VAR_080496  p.Cys401Tyr    US       rs747259064    Developmental and epileptic encephalopathy 61 (DEE61) [MIM:617933]
ADAM28    Q9UKQ2     VAR_024596  p.Val765Met    LB/B     rs7814768      -
ADAM28    Q9UKQ2     VAR_057067  p.Arg219Met    LB/B     rs9314282      -
ADAM28    Q9UKQ2     VAR_057068  p.Glu226Asp    LB/B     rs17736699     -
ADAM28    Q9UKQ2     VAR_057069  p.Asn493Ser    LB/B     rs7001647      -
ADAM28    Q9UKQ2     VAR_057070  p.Thr593Lys    LB/B     rs36041430     -
ADAM28    Q9UKQ2     VAR_057071  p.Thr604Pro    LB/B     rs35617826     -
ADAM28    Q9UKQ2     VAR_057072  p.Met684Ile    LB/B     rs7829965      -
ADAM28    Q9UKQ2     VAR_066317  p.Gly65Glu     US       -              A cutaneous metastatic melanoma sample
ADAM28    Q9UKQ2     VAR_066318  p.Gly134Glu    US       rs267601860    A cutaneous metastatic melanoma sample
ADAM28    Q9UKQ2     VAR_066319  p.Gly450Glu    US       rs267601862    A cutaneous metastatic melanoma sample
ADAM28    Q9UKQ2     VAR_066320  p.Ser482Phe    US       -              A cutaneous metastatic melanoma sample
ADAM28    Q9UKQ2     VAR_066321  p.Gly502Asp    US       rs267601864    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_036148  p.Pro31Leu     US       rs544557652    A colorectal cancer sample
ADAM29    Q9UKF5     VAR_036149  p.Val205Ile    US       rs772388824    A colorectal cancer sample
ADAM29    Q9UKF5     VAR_066322  p.Leu72Phe     US       -              A melanoma cell line
ADAM29    Q9UKF5     VAR_066323  p.Ile89Met     US       -              A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066324  p.Glu111Lys    US       rs267600087    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066325  p.Ser112Phe    US       -              A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066326  p.Ser115Phe    US       -              A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066327  p.Asp131Asn    US       -              A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066328  p.Glu176Lys    US       rs899870236    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066329  p.Ser234Phe    US       rs866380131    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066330  p.Ile257Phe    US       rs140083180    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066331  p.Gly305Glu    US       rs267600089    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066332  p.Asp345Asn    US       rs267600090    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066333  p.Gly403Asp    US       rs150047888    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066334  p.Gly434Asp    US       rs267600091    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066335  p.Glu503Lys    US       -              A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066336  p.His533Tyr    US       rs267600093    A cutaneous metastatic melanoma sample
ADAM30    Q9UKF2     VAR_024597  p.Leu359Pro    LB/B     rs2641348      -
ADAM30    Q9UKF2     VAR_061738  p.Thr737Ala    LB/B     rs35273427     -
ADAM32    Q8TC27     VAR_051591  p.Thr467Ser    LB/B     rs7845771      -
ADAM32    Q8TC27     VAR_055241  p.Gln98Arg     LB/B     rs17856744     -
ADAM32    Q8TC27     VAR_055242  p.Ser160Gly    LB/B     rs17852343     -
ADAM32    Q8TC27     VAR_055243  p.Leu327Val    LB/B     rs9643859      -
ADAM32    Q8TC27     VAR_055244  p.Lys658Asn    LB/B     rs13277386     -
ADAM32    Q8TC27     VAR_061739  p.Asp778Glu    LB/B     rs28705715     -
ADAM33    Q9BZ11     VAR_021847  p.Met764Thr    LB/B     rs2280091      -
ADAM33    Q9BZ11     VAR_029143  p.Thr178Ala    LB/B     rs3918392      -
ADAM33    Q9BZ11     VAR_029144  p.Pro774Ser    LB/B     rs2280090      -
ADAM33    Q9BZ11     VAR_030512  p.Asn109Ser    LB/B     rs41467948     -
ADAM33    Q9BZ11     VAR_030513  p.Thr272Met    LB/B     rs41534847     -
ADAM33    Q9BZ11     VAR_030514  p.Val316Ile    LB/B     rs41459049     -
ADAM33    Q9BZ11     VAR_030515  p.Pro336Ser    LB/B     rs41483049     -
ADAM33    Q9BZ11     VAR_030516  p.Ala365Ser    LB/B     rs41419248     -
ADAM33    Q9BZ11     VAR_030517  p.Asp441Glu    LB/B     rs41382144     -
ADAM33    Q9BZ11     VAR_030518  p.Trp515Arg    LB/B     rs615436       -
ADAM33    Q9BZ11     VAR_030519  p.Leu612His    LB/B     rs41453444     -
ADAM33    Q9BZ11     VAR_030520  p.Val710Ile    LB/B     rs3918396      -
ADAM33    Q9BZ11     VAR_030521  p.Cys739Gly    LB/B     rs41434648     -
ADAM33    Q9BZ11     VAR_030522  p.Asp742Tyr    LB/B     rs41462450     -
ADAM33    Q9BZ11     VAR_066337  p.Ala305Val    US       rs1169229302   A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_046728  p.Glu25Gln     LB/B     rs34852692     -
ADAM7     Q9H2U9     VAR_046729  p.Ile205Val    LB/B     rs7829386      -
ADAM7     Q9H2U9     VAR_046730  p.Val244Met    LB/B     rs13255694     -
ADAM7     Q9H2U9     VAR_046731  p.Ile453Thr    LB/B     rs3736281      -
ADAM7     Q9H2U9     VAR_046732  p.Leu570Val    LB/B     rs2307044      -
ADAM7     Q9H2U9     VAR_046733  p.Asn638His    LB/B     rs13259668     -
ADAM7     Q9H2U9     VAR_046734  p.Leu735Pro    LB/B     rs6980829      -
ADAM7     Q9H2U9     VAR_066296  p.Pro14Ser     US       rs150319320    A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066297  p.Arg31Cys     US       rs137990671    A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066298  p.Pro36Ser     US       rs267601866    A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066299  p.His106Tyr    US       rs267601867    A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066300  p.Leu173Pro    US       -              -
ADAM7     Q9H2U9     VAR_066301  p.Val180Ala    US       -              A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066302  p.His243Tyr    US       -              A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066303  p.Gly302Glu    US       -              A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066304  p.Met359Ile    US       rs267601868    A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066305  p.Gly533Glu    US       rs867202281    A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066306  p.Phe593Leu    US       -              -
ADAM7     Q9H2U9     VAR_066307  p.Glu639Lys    US       rs1034941983   A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066308  p.Ser703Asn    US       -              A cutaneous metastatic melanoma sample
ADAM8     P78325     VAR_059760  p.Gly101Arg    LB/B     rs11101675     -
ADAM8     P78325     VAR_061735  p.Arg189Trp    LB/B     rs45451297     -
ADAM8     P78325     VAR_061736  p.Arg433Cys    LB/B     rs12257830     -
ADAM8     P78325     VAR_061737  p.Ile775Thr    LB/B     rs3008319      -
ADAM8     P78325     VAR_069144  p.Trp35Arg     LB/B     rs2275725      -
ADAM8     P78325     VAR_069145  p.Phe657Leu    LB/B     rs2275720      -
ADAMDEC1  O15204     VAR_021848  p.Asn444Ser    LB/B     rs3765124      -
ADAMDEC1  O15204     VAR_024598  p.Met121Thr    LB/B     rs7007084      -
ADAMTS1   Q9UHI8     VAR_030001  p.Ala227Pro    LB/B     rs428785       -
ADAMTS10  Q9H324     VAR_054439  p.Ala25Thr     LP/P     -              Weill-Marchesani syndrome 1 (WMS1) [MIM:277600]
ADAMTS10  Q9H324     VAR_054440  p.Arg119Gln    LB/B     rs3814291      -
ADAMTS10  Q9H324     VAR_054441  p.Thr134Ser    LB/B     rs7255721      -
ADAMTS12  P58397     VAR_057074  p.Gln110Glu    LB/B     rs16891862     -
ADAMTS12  P58397     VAR_057075  p.Arg1000Gln   LB/B     rs13362345     -
ADAMTS12  P58397     VAR_058972  p.Thr1495Ile   LB/B     rs25754        -
ADAMTS12  P58397     VAR_059761  p.Trp1177Arg   LB/B     rs3813474      -
ADAMTS12  P58397     VAR_059762  p.Ser1591Pro   LB/B     rs16891281     -
ADAMTS13  Q76LX8     VAR_027109  p.Arg7Trp      LB/B     rs34024143     -
ADAMTS13  Q76LX8     VAR_027110  p.Val88Met     LP/P     rs281875302    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027111  p.His96Asp     LP/P     rs121908467    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027112  p.Arg102Cys    LP/P     rs121908469    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027113  p.Arg193Trp    LP/P     rs281875287    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027114  p.Thr196Ile    LP/P     rs121908470    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027115  p.His234Gln    LP/P     rs281875304    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027116  p.Ala250Val    LP/P     rs121908478    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027117  p.Arg268Pro    LP/P     rs121908477    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027118  p.Trp390Cys    LP/P     rs281875306    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027119  p.Arg398His    LP/P     rs121908471    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027120  p.Gln448Glu    LB/B     rs2301612      -
ADAMTS13  Q76LX8     VAR_027121  p.Pro475Ser    LB/B     rs11575933     -
ADAMTS13  Q76LX8     VAR_027122  p.Cys508Tyr    LP/P     rs281875305    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027123  p.Arg528Gly    LP/P     rs121908473    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027124  p.Pro618Ala    LB/B     rs28647808     -
ADAMTS13  Q76LX8     VAR_027125  p.Arg625His    LB/B     rs36090624     -
ADAMTS13  Q76LX8     VAR_027126  p.Ile673Phe    LP/P     rs281875307    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027127  p.Arg692Cys    LP/P     rs121908475    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027128  p.Ala732Val    LB/B     rs41314453     -
ADAMTS13  Q76LX8     VAR_027129  p.Ala900Val    LB/B     rs685523       -
ADAMTS13  Q76LX8     VAR_027130  p.Ser903Leu    LB/B     rs78977446     -
ADAMTS13  Q76LX8     VAR_027131  p.Cys908Tyr    LP/P     rs281875301    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027132  p.Cys951Gly    LP/P     rs121908468    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027133  p.Cys1024Gly   LP/P     rs121908472    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027134  p.Ala1033Thr   LB/B     rs28503257     -
ADAMTS13  Q76LX8     VAR_027135  p.Arg1095Trp   LB/B     rs782383410    -
ADAMTS13  Q76LX8     VAR_027136  p.Arg1123Cys   LP/P     rs281875340    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027137  p.Cys1213Tyr   LP/P     rs121908474    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027138  p.Gly1239Val   LP/P     rs281875303    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027139  p.Arg1336Trp   LP/P     rs281875308    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027162  p.Gln456His    LB/B     rs36220239     -
ADAMTS13  Q76LX8     VAR_027163  p.Pro457Leu    LB/B     rs36220240     -
ADAMTS13  Q76LX8     VAR_027164  p.Glu740Lys    LB/B     rs36221451     -
ADAMTS13  Q76LX8     VAR_027165  p.Gly982Arg    LB/B     rs36222275     -
ADAMTS13  Q76LX8     VAR_027166  p.Thr1226Ile   LB/B     rs36222894     -
ADAMTS13  Q76LX8     VAR_067770  p.Ile79Met     LP/P     rs281875297    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067771  p.Ser119Phe    LP/P     rs281875291    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067772  p.Ile178Thr    LP/P     rs281875289    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067773  p.Ser203Pro    LP/P     rs281875298    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067774  p.Leu232Gln    LP/P     rs281875292    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067775  p.Asp235His    LP/P     rs281875337    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067776  p.Ser263Cys    LP/P     rs281875293    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067777  p.Tyr304Cys    LP/P     rs281875285    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067778  p.Cys311Tyr    LP/P     rs281875336    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067779  p.Thr339Arg    LB/B     rs149517360    -
ADAMTS13  Q76LX8     VAR_067780  p.Cys347Ser    LP/P     rs281875294    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067781  p.Arg349Cys    LP/P     rs281875288    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067782  p.Pro353Leu    LP/P     rs281875338    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067783  p.Arg507Gln    LP/P     rs281875296    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067784  p.Gly525Asp    LP/P     rs281875286    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067785  p.Ala596Val    LP/P     rs281875299    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067786  p.Ala606Pro    LP/P     rs281875290    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067787  p.Tyr658Cys    LP/P     rs281875335    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067788  p.Pro671Leu    LP/P     rs281875295    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067789  p.Cys758Arg    LP/P     rs281875300    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067790  p.Cys908Ser    LP/P     rs281875301    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067792  p.Arg1060Trp   LP/P     rs142572218    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067793  p.Arg1219Trp   LP/P     rs281875339    Thrombotic thrombocytopenic purpura, hereditary (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067794  p.Ser1314Leu   LB/B     rs142060916    -
ADAMTS14  Q8WXS8     VAR_047837  p.Arg179Cys    LB/B     rs34022601     -
ADAMTS14  Q8WXS8     VAR_047838  p.Leu590Pro    LB/B     rs10823607     -
ADAMTS14  Q8WXS8     VAR_047839  p.Leu937Met    LB/B     rs12774070     -
ADAMTS14  Q8WXS8     VAR_047840  p.Ser1017Asn   LB/B     rs10999516     -
ADAMTS14  Q8WXS8     VAR_047841  p.Glu1049Gly   LB/B     rs4747096      -
ADAMTS15  Q8TE58     VAR_036150  p.Gln770Arg    US       rs776537988    A colorectal cancer sample
ADAMTS15  Q8TE58     VAR_036151  p.Cys878Gly    US       -              A colorectal cancer sample
ADAMTS15  Q8TE58     VAR_051594  p.Asn623Ser    LB/B     rs11222114     -
ADAMTS16  Q8TE57     VAR_057076  p.Met110Val    LB/B     rs1863968      -
ADAMTS16  Q8TE57     VAR_057077  p.Ala486Thr    LB/B     rs16875054     -
ADAMTS16  Q8TE57     VAR_057078  p.Arg789Cys    LB/B     rs9313105      -
ADAMTS16  Q8TE57     VAR_057079  p.Arg859Leu    LB/B     rs16875122     -
ADAMTS16  Q8TE57     VAR_057080  p.Glu863Lys    LB/B     rs35394775     -
ADAMTS17  Q8TE56     VAR_057081  p.Ser216Leu    LB/B     rs7496668      -
ADAMTS17  Q8TE56     VAR_057082  p.Met482Thr    LB/B     rs28567966     -
ADAMTS17  Q8TE56     VAR_060317  p.Asn1094Ser   LB/B     rs2573652      -
ADAMTS17  Q8TE56     VAR_064041  p.Arg566Thr    LB/B     -              -
ADAMTS18  Q8TE60     VAR_036152  p.Arg382Lys    US       rs368783738    A colorectal cancer sample
ADAMTS18  Q8TE60     VAR_036153  p.Lys455Thr    US       rs776584074    A colorectal cancer sample
ADAMTS18  Q8TE60     VAR_057083  p.Leu769Ile    LB/B     rs9930984      -
ADAMTS18  Q8TE60     VAR_057084  p.Ala946Ser    LB/B     rs12935394     -
ADAMTS18  Q8TE60     VAR_057085  p.Ser1080Arg   LB/B     rs35478105     -
ADAMTS18  Q8TE60     VAR_057086  p.Ser1159Thr   LB/B     rs3743749      -
ADAMTS18  Q8TE60     VAR_060231  p.Tyr191His    LB/B     rs11643211     -
ADAMTS18  Q8TE60     VAR_060232  p.Leu626Ile    LB/B     rs11640912     -
ADAMTS18  Q8TE60     VAR_066554  p.Ser179Leu    LB/B     rs387906972    -
ADAMTS18  Q8TE60     VAR_070849  p.Leu202Pro    LP/P     rs397515468    Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]
ADAMTS18  Q8TE60     VAR_070850  p.Cys577Trp    LP/P     rs148319220    Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]
ADAMTS19  Q8TE59     VAR_024599  p.Tyr1089Phe   LB/B     rs11749126     -
ADAMTS19  Q8TE59     VAR_036154  p.Leu360Ile    US       -              A breast cancer sample
ADAMTS19  Q8TE59     VAR_057087  p.Glu582Gly    LB/B     rs10062501     -
ADAMTS2   O95450     VAR_020058  p.Val245Ile    LB/B     rs398829       -
ADAMTS2   O95450     VAR_020059  p.Pro1177Ser   LB/B     rs1054480      -
ADAMTS2   O95450     VAR_047927  p.Val74Met     LB/B     rs2271211      -
ADAMTS2   O95450     VAR_047928  p.Arg241His    LB/B     rs11750821     -
ADAMTS2   O95450     VAR_047929  p.Glu331Lys    LB/B     rs17667857     -
ADAMTS2   O95450     VAR_047930  p.Gly665Arg    LB/B     rs35372714     -
ADAMTS2   O95450     VAR_047931  p.Arg827Gln    LB/B     rs35445112     -
ADAMTS20  P59510     VAR_057088  p.Lys876Met    LB/B     rs7302446      -
ADAMTS20  P59510     VAR_057089  p.Arg1000His   LB/B     rs7297737      -
ADAMTS20  P59510     VAR_057090  p.Ser1273Phe   LB/B     rs7310011      -
ADAMTS3   O15072     VAR_055012  p.Arg138Lys    LB/B     rs788908       -
ADAMTS3   O15072     VAR_055013  p.Ser1074Pro   LB/B     rs35864003     -
ADAMTS3   O15072     VAR_081558  p.Leu168Pro    LP/P     rs1177851177   Hennekam lymphangiectasia-lymphedema syndrome 3 (HKLLS3) [MIM:618154]
ADAMTS3   O15072     VAR_081559  p.Ile291Thr    LP/P     rs61757480     Hennekam lymphangiectasia-lymphedema syndrome 3 (HKLLS3) [MIM:618154]
ADAMTS4   O75173     VAR_022450  p.Gln626Arg    LB/B     rs4233367      -
ADAMTS4   O75173     VAR_030636  p.Thr4Ile      LB/B     rs17855814     -
ADAMTS4   O75173     VAR_030637  p.Asp304Asn    LB/B     rs17855813     -
ADAMTS4   O75173     VAR_030638  p.Met369Val    LB/B     rs17855812     -
ADAMTS4   O75173     VAR_030639  p.Pro552Thr    LB/B     rs17855815     -
ADAMTS4   O75173     VAR_030640  p.Thr564Ala    LB/B     rs17855816     -
ADAMTS4   O75173     VAR_030641  p.Arg836Lys    LB/B     rs11807350     -
ADAMTS4   O75173     VAR_057073  p.Ala77Thr     LB/B     rs34448954     -
ADAMTS5   Q9UNA0     VAR_021849  p.Arg614His    LB/B     rs2830585      -
ADAMTS5   Q9UNA0     VAR_028199  p.Gly138Ala    LB/B     rs457947       -
ADAMTS5   Q9UNA0     VAR_028200  p.Leu692Pro    LB/B     rs226794       -
ADAMTS7   Q9UKP4     VAR_046112  p.Ser214Pro    LB/B     rs3825807      -
ADAMTS7   Q9UKP4     VAR_046113  p.Thr307Met    LB/B     rs2127898      -
ADAMTS7   Q9UKP4     VAR_046114  p.Thr1319Ala   LB/B     rs11630236     -
ADAMTS7   Q9UKP4     VAR_046115  p.Gly1414Ser   LB/B     rs2929155      -
ADAMTS7   Q9UKP4     VAR_046116  p.Gly1583Ala   LB/B     rs7495616      -
ADAMTS9   Q9P2N4     VAR_047081  p.Ser96Pro     LB/B     rs36115950     -
ADAMTS9   Q9P2N4     VAR_047082  p.Lys1579Glu   LB/B     rs17071010     -
ADAMTS9   Q9P2N4     VAR_047083  p.Asp1674Glu   LB/B     rs6787633      -
ADAMTS9   Q9P2N4     VAR_047084  p.Lys1740Arg   LB/B     rs17070967     -
ADAMTS9   Q9P2N4     VAR_047085  p.Glu1791Gln   LB/B     rs3796381      -
ADAMTS9   Q9P2N4     VAR_047086  p.Arg1933Gln   LB/B     rs17070905     -
ADAMTS9   Q9P2N4     VAR_051592  p.Ser96Thr     LB/B     rs36115950     -
ADAMTS9   Q9P2N4     VAR_051593  p.Lys1921Glu   LB/B     rs17070909     -
ADAMTSL1  Q8N6G6     VAR_017174  p.Ser242Asn    LB/B     rs776755       -
ADAMTSL2  Q86TH1     VAR_046011  p.Val364Ile    LB/B     rs35767802     -
ADAMTSL2  Q86TH1     VAR_054874  p.Arg113His    LP/P     rs113994122    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_054875  p.Glu114Lys    LP/P     rs113994123    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_054876  p.Pro147Leu    LP/P     rs113994121    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_054877  p.Gly811Arg    LP/P     rs113994124    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066543  p.Trp50Cys     LP/P     rs1395219766   Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066544  p.Arg72Gln     LP/P     rs387907064    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066545  p.Arg159Trp    LP/P     rs776178041    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066546  p.Ala165Thr    LP/P     rs764516811    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066547  p.Cys171Arg    LP/P     -              Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066548  p.Arg221Cys    LP/P     rs387907065    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066549  p.Ala239Thr    LP/P     -              Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066551  p.Arg593Cys    LP/P     -              Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066552  p.Ser635Leu    LP/P     -              Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066553  p.Pro906Leu    LP/P     rs969732840    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL3  P82987     VAR_027478  p.His146Arg    LB/B     rs4483821      -
ADAMTSL3  P82987     VAR_027479  p.Leu290Val    LB/B     rs4144691      -
ADAMTSL3  P82987     VAR_027480  p.Val661Leu    LB/B     rs4842838      -
ADAMTSL3  P82987     VAR_027481  p.Arg855His    LB/B     rs2277848      -
ADAMTSL3  P82987     VAR_027482  p.Leu869Phe    LB/B     rs2277849      -
ADAMTSL3  P82987     VAR_027483  p.Thr1370Ala   LB/B     rs17158450     -
ADAMTSL3  P82987     VAR_027484  p.Met1558Thr   LB/B     rs7175910      -
ADAMTSL3  P82987     VAR_027485  p.Thr1660Ile   LB/B     rs950169       -
ADAMTSL3  P82987     VAR_027486  p.Arg1679His   LB/B     rs11857906     -
ADAMTSL3  P82987     VAR_035809  p.Val330Met    US       rs1439091253   A colorectal cancer sample
ADAMTSL3  P82987     VAR_035810  p.Arg587His    US       rs142860011    A colorectal cancer sample
ADAMTSL3  P82987     VAR_035811  p.Arg855Cys    US       rs146769560    A colorectal cancer sample
ADAMTSL3  P82987     VAR_035812  p.Ala1315Glu   US       -              A colorectal cancer sample
ADAMTSL3  P82987     VAR_057365  p.Gly713Arg    LB/B     rs34047645     -
ADAMTSL4  Q6UY14     VAR_061918  p.Ala193Pro    LB/B     rs41317515     -
ADAMTSL4  Q6UY14     VAR_061919  p.Arg1028His   LB/B     rs56411234     -
ADAP1     O75689     VAR_047470  p.Gly241Ser    LB/B     rs10256887     -
ADAR      P55265     VAR_017240  p.Lys384Arg    LB/B     rs2229857      -
ADAR      P55265     VAR_017604  p.Leu923Pro    LP/P     rs28936680     Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
ADAR      P55265     VAR_017605  p.Phe1165Ser   LP/P     rs28936681     Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
ADAR      P55265     VAR_021729  p.Cys966Phe    LP/P     -              Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
ADAR      P55265     VAR_024407  p.Tyr587Cys    LB/B     rs17843865     -
ADAR      P55265     VAR_026669  p.Arg1155Trp   LP/P     rs1044845711   Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
ADAR      P55265     VAR_035805  p.Glu806Val    US       rs144119808    A breast cancer sample
ADAR      P55265     VAR_048725  p.Arg100Gly    LB/B     rs1466731      -
ADAR      P55265     VAR_069535  p.Pro193Ala    LP/P     rs145588689    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069536  p.Ala870Thr    LP/P     rs398122893    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069537  p.Ile872Thr    LP/P     rs398122897    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069538  p.Arg892His    LP/P     rs398122892    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069539  p.Lys999Asn    LP/P     rs398122896    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069540  p.Gly1007Arg   LP/P     rs398122822    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069541  p.Tyr1112Phe   LP/P     rs398122895    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069542  p.Asp1113His   LP/P     rs398122894    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADARB1    P78563     VAR_070931  p.Val224Ala    LB/B     rs199697177    -
ADARB1    P78563     VAR_083947  p.Lys127Glu    US       -              Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) [MIM:618862]
ADARB1    P78563     VAR_083948  p.Lys367Asn    US       -              Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) [MIM:618862]
ADARB1    P78563     VAR_083949  p.Thr498Ala    US       -              Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) [MIM:618862]
ADARB1    P78563     VAR_083950  p.Arg603Gln    LP/P     -              Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) [MIM:618862]
ADARB1    P78563     VAR_083951  p.Ala722Val    US       -              Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) [MIM:618862]
ADARB2    Q9NS39     VAR_020438  p.Ala44Thr     LB/B     rs3793733      -
ADARB2    Q9NS39     VAR_035806  p.Thr210Met    US       -              A colorectal cancer sample
ADARB2    Q9NS39     VAR_035807  p.Val512Ile    US       rs138734198    A colorectal cancer sample
ADARB2    Q9NS39     VAR_048726  p.Ala626Thr    LB/B     rs2271275      -
ADAT1     Q9BUB4     VAR_032340  p.His167Asn    LB/B     rs3743598      -
ADAT1     Q9BUB4     VAR_032341  p.Thr203Asn    LB/B     rs3743599      -
ADAT1     Q9BUB4     VAR_055649  p.Thr242Pro    LB/B     rs3743600      -
ADAT1     Q9BUB4     VAR_061098  p.Ile226Val    LB/B     rs56029288     -
ADAT3     Q96EY9     VAR_035804  p.Arg332Cys    US       -              A breast cancer sample
ADAT3     Q96EY9     VAR_069778  p.Val128Met    LP/P     -              Mental retardation, autosomal recessive 36 (MRT36) [MIM:615286]
ADCK2     Q7Z695     VAR_029992  p.Ser307Pro    LB/B     rs1140034      -
ADCK2     Q7Z695     VAR_029993  p.Val418Met    LB/B     rs3748092      -
ADCK2     Q7Z695     VAR_029994  p.Pro622Leu    LB/B     rs1046515      -
ADCK2     Q7Z695     VAR_041418  p.Val418Leu    LB/B     rs3748092      -
ADCK2     Q7Z695     VAR_041419  p.Pro626Leu    LB/B     rs55922126     -
ADCK2     Q7Z695     VAR_060990  p.Ser66Gly     LB/B     rs2968558      -
ADCK5     Q3MIX3     VAR_029996  p.Ser17Arg     LB/B     rs6599528      -
ADCY1     Q08828     VAR_029186  p.Pro456Leu    LB/B     rs12721473     -
ADCY1     Q08828     VAR_029187  p.Ala940Thr    LB/B     rs45444695     -
ADCY1     Q08828     VAR_048246  p.Val984Met    LB/B     rs2293106      -
ADCY10    Q96PN6     VAR_038476  p.Thr234Met    LB/B     rs16859886     -
ADCY10    Q96PN6     VAR_038477  p.Ile697Val    LB/B     rs2071921      -
ADCY2     Q08462     VAR_029012  p.Val147Leu    LB/B     rs13166360     -
ADCY2     Q08462     VAR_048247  p.Val163Ile    LB/B     rs34043481     -
ADCY3     O60266     VAR_048248  p.Ser107Pro    LB/B     rs11676272     -
ADCY3     O60266     VAR_080791  p.Asn64Ile     LB/B     rs541941351    -
ADCY5     O95622     VAR_068821  p.Ala726Thr    LP/P     rs796065306    Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]
ADCY5     O95622     VAR_073778  p.Arg418Trp    LP/P     rs864309483    Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]
ADCY6     O43306     VAR_048249  p.Ala674Ser    LB/B     rs3730071      -
ADCY6     O43306     VAR_073434  p.Arg1116Cys   LP/P     rs786204798    Lethal congenital contracture syndrome 8 (LCCS8) [MIM:616287]
ADCY8     P40145     VAR_029188  p.Ala80Thr     LB/B     rs2228949      -
ADCY8     P40145     VAR_036328  p.Phe881Leu    US       -              A colorectal cancer sample
ADCY9     O60503     VAR_023750  p.Ile772Met    LB/B     rs2230739      -
ADCY9     O60503     VAR_070887  p.Asn1154Ser   LB/B     rs61731445     -
ADCYAP1   P18509     VAR_014597  p.Asp54Gly     LB/B     rs2856966      -
ADD1      P35611     VAR_014184  p.Gly460Trp    LB/B     rs4961         -
ADD1      P35611     VAR_014185  p.Ser586Cys    LB/B     rs4963         -
ADD1      P35611     VAR_014863  p.Tyr270Asn    LB/B     rs4971         -
ADD1      P35611     VAR_014864  p.Glu376Asp    LB/B     rs4972         -
ADD1      P35611     VAR_014865  p.Asn510Ile    LB/B     rs4962         -
ADD1      P35611     VAR_022108  p.Arg6Cys      LB/B     rs2295497      -
ADD2      P35612     VAR_014866  p.Asp28Asn     LB/B     rs4986         -
ADD2      P35612     VAR_014867  p.Glu335Asp    LB/B     rs4982         -
ADD2      P35612     VAR_014868  p.Ser663Arg    LB/B     rs4985         -
ADD2      P35612     VAR_025318  p.Thr439Ala    LB/B     rs17855969     -
ADD2      P35612     VAR_048195  p.Ser98Cys     LB/B     rs4987         -
ADD3      Q9UEY8     VAR_076996  p.Gly367Asp    LP/P     rs564185858    Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:617008]
ADGB      Q8N7X0     VAR_025948  p.Ile310Thr    LB/B     rs9497606      -
ADGB      Q8N7X0     VAR_063158  p.Thr1637Ala   LB/B     rs1052445      -
ADGRA1    Q86SQ6     VAR_055931  p.Ala183Ser    LB/B     rs34915504     -
ADGRA1    Q86SQ6     VAR_055932  p.Gln214Leu    LB/B     rs34679676     -
ADGRA2    Q96PE1     VAR_072079  p.Pro29Leu     US       -              -
ADGRA2    Q96PE1     VAR_072561  p.Thr375Lys    LB/B     -              -
ADGRA3    Q8IWK6     VAR_033971  p.Val1043Met   LB/B     rs9002         -
ADGRA3    Q8IWK6     VAR_033972  p.Val1166Gly   LB/B     rs3814416      -
ADGRB2    O60241     VAR_079840  p.Arg1465Trp   LP/P     rs778361520    -
ADGRB3    O60242     VAR_046525  p.Asn503Ser    LB/B     rs1932618      -
ADGRD1    Q6QNK2     VAR_049461  p.Val508Met    LB/B     rs11833801     -
ADGRD1    Q6QNK2     VAR_049462  p.Ser523Leu    LB/B     rs11061318     -
ADGRD1    Q6QNK2     VAR_077698  p.Tyr18Cys     LB/B     rs149181066    -
ADGRD1    Q6QNK2     VAR_077699  p.Tyr18His     LB/B     rs146611221    -
ADGRD1    Q6QNK2     VAR_077700  p.Asp32Asn     LB/B     rs376178471    -
ADGRD1    Q6QNK2     VAR_077701  p.Glu78Lys     LB/B     rs267603378    -
ADGRD1    Q6QNK2     VAR_077702  p.Thr82Met     LB/B     rs143395855    -
ADGRD1    Q6QNK2     VAR_077703  p.Tyr85Cys     LB/B     rs199848650    -
ADGRD1    Q6QNK2     VAR_077704  p.Tyr89Asp     LB/B     rs201546462    -
ADGRD1    Q6QNK2     VAR_077705  p.Phe110Leu    LB/B     rs148928637    -
ADGRD1    Q6QNK2     VAR_077706  p.Ser138Phe    LB/B     rs199526762    -
ADGRD1    Q6QNK2     VAR_077707  p.Gly140Ser    LB/B     rs374985420    -
ADGRD1    Q6QNK2     VAR_077708  p.Gly141Asp    LB/B     rs142759046    -
ADGRD1    Q6QNK2     VAR_077709  p.Val145Leu    LB/B     rs146945782    -
ADGRD1    Q6QNK2     VAR_077710  p.Arg150Trp    LB/B     rs144030317    -
ADGRD1    Q6QNK2     VAR_077711  p.Trp174Ser    LB/B     rs141606054    -
ADGRD1    Q6QNK2     VAR_077712  p.Glu178Lys    LB/B     rs148148477    -
ADGRD1    Q6QNK2     VAR_077713  p.Val184Ile    LB/B     rs61732860     -
ADGRD1    Q6QNK2     VAR_077714  p.Gly195Arg    LB/B     rs267603379    -
ADGRD1    Q6QNK2     VAR_077715  p.Arg199Cys    LB/B     rs146310036    -
ADGRD1    Q6QNK2     VAR_077716  p.Arg199His    LB/B     rs375084180    -
ADGRD1    Q6QNK2     VAR_077717  p.Glu203Asp    LB/B     rs201045213    -
ADGRD1    Q6QNK2     VAR_077718  p.Val209Met    LB/B     rs139478688    -
ADGRD1    Q6QNK2     VAR_077719  p.Asp226Asn    LB/B     rs377562590    -
ADGRD1    Q6QNK2     VAR_077720  p.Arg233Trp    LB/B     rs370807516    -
ADGRD1    Q6QNK2     VAR_077721  p.Ala241Thr    LB/B     rs368468703    -
ADGRD1    Q6QNK2     VAR_077722  p.Met242Thr    LB/B     rs201057341    -
ADGRD1    Q6QNK2     VAR_077723  p.Thr245Ile    LB/B     rs201053759    -
ADGRD1    Q6QNK2     VAR_077724  p.Thr257Ala    LB/B     rs146563785    -
ADGRD1    Q6QNK2     VAR_077725  p.Pro259Gln    LB/B     rs75096240     -
ADGRD1    Q6QNK2     VAR_077726  p.Ser265Tyr    LB/B     rs137909892    -
ADGRD1    Q6QNK2     VAR_077727  p.Ser268Asn    LB/B     rs149012578    -
ADGRD1    Q6QNK2     VAR_077728  p.Val270Ala    LB/B     rs147773154    -
ADGRD1    Q6QNK2     VAR_077729  p.Val270Met    LB/B     rs147105264    -
ADGRD1    Q6QNK2     VAR_077730  p.Pro293Ala    LB/B     rs146929634    -
ADGRD1    Q6QNK2     VAR_077731  p.Gly294Arg    LB/B     rs148017957    -
ADGRD1    Q6QNK2     VAR_077732  p.Pro308Ser    LB/B     rs201661954    -
ADGRD1    Q6QNK2     VAR_077733  p.Leu318Phe    LB/B     rs200641036    -
ADGRD1    Q6QNK2     VAR_077734  p.Ser349Asn    LB/B     rs370854685    -
ADGRD1    Q6QNK2     VAR_077735  p.Asn364Ser    LB/B     rs146050435    -
ADGRD1    Q6QNK2     VAR_077736  p.Thr369Met    LB/B     rs142314859    -
ADGRD1    Q6QNK2     VAR_077737  p.Phe383Ser    LB/B     rs200232576    -
ADGRD1    Q6QNK2     VAR_077738  p.Val393Met    LB/B     rs374606811    -
ADGRD1    Q6QNK2     VAR_077739  p.His397Gln    LB/B     rs201985264    -
ADGRD1    Q6QNK2     VAR_077740  p.Arg399Cys    LB/B     rs150882180    -
ADGRD1    Q6QNK2     VAR_077741  p.Gly404Ala    LB/B     rs371536090    -
ADGRD1    Q6QNK2     VAR_077742  p.Gln405Pro    LB/B     rs145663007    -
ADGRD1    Q6QNK2     VAR_077743  p.Ile410Val    LB/B     rs376489706    -
ADGRD1    Q6QNK2     VAR_077744  p.Pro411Ser    LB/B     rs147757048    -
ADGRD1    Q6QNK2     VAR_077745  p.Glu413Lys    LB/B     rs142628291    -
ADGRD1    Q6QNK2     VAR_077746  p.Ala419Val    LB/B     rs370959644    -
ADGRD1    Q6QNK2     VAR_077747  p.Gly425Ser    LB/B     rs374575404    -
ADGRD1    Q6QNK2     VAR_077748  p.Ala441Thr    LB/B     rs375271891    -
ADGRD1    Q6QNK2     VAR_077749  p.Ala448Asp    LB/B     rs200173874    -
ADGRD1    Q6QNK2     VAR_077750  p.His450Arg    LB/B     rs200060202    -
ADGRD1    Q6QNK2     VAR_077751  p.Asp453Asn    LB/B     rs149065791    -
ADGRD1    Q6QNK2     VAR_077752  p.Cys454Tyr    LB/B     rs143062748    -
ADGRD1    Q6QNK2     VAR_077753  p.Ala458Thr    LB/B     rs140426880    -
ADGRD1    Q6QNK2     VAR_077754  p.Ser464Ala    LB/B     rs78638447     -
ADGRD1    Q6QNK2     VAR_077755  p.Asn476Ser    LB/B     rs138163855    -
ADGRD1    Q6QNK2     VAR_077756  p.Ser478Leu    LB/B     rs372643228    -
ADGRD1    Q6QNK2     VAR_077757  p.Thr484Met    LB/B     rs149266247    -
ADGRD1    Q6QNK2     VAR_077758  p.Val485Ile    LB/B     rs369012277    -
ADGRD1    Q6QNK2     VAR_077759  p.Glu498Gly    LB/B     rs200576124    -
ADGRD1    Q6QNK2     VAR_077760  p.Ala499Ser    LB/B     rs150620459    -
ADGRD1    Q6QNK2     VAR_077761  p.Asn524Lys    LB/B     rs370443698    -
ADGRD1    Q6QNK2     VAR_077762  p.Val538Ala    LB/B     rs201849687    -
ADGRD1    Q6QNK2     VAR_077763  p.Val538Ile    LB/B     rs200971352    -
ADGRD1    Q6QNK2     VAR_077764  p.Arg540Cys    LB/B     rs147294464    -
ADGRD1    Q6QNK2     VAR_077765  p.Arg540His    LB/B     rs145630930    -
ADGRD1    Q6QNK2     VAR_077766  p.Arg560Cys    LB/B     rs371989819    -
ADGRD1    Q6QNK2     VAR_077767  p.Arg560His    LB/B     rs375179921    -
ADGRD1    Q6QNK2     VAR_077768  p.Ser567Leu    LB/B     rs192515185    -
ADGRD1    Q6QNK2     VAR_077769  p.Ile569Val    LB/B     rs139017446    -
ADGRD1    Q6QNK2     VAR_077770  p.Ala589Thr    LB/B     rs201161291    -
ADGRD1    Q6QNK2     VAR_077771  p.Val594Met    LB/B     rs189007948    -
ADGRD1    Q6QNK2     VAR_077772  p.Arg601His    LB/B     rs201524753    -
ADGRD1    Q6QNK2     VAR_077773  p.Leu608Met    LB/B     rs200052797    -
ADGRD1    Q6QNK2     VAR_077774  p.Arg624Cys    LB/B     rs117457351    -
ADGRD1    Q6QNK2     VAR_077775  p.Glu626Lys    LB/B     rs199778477    -
ADGRD1    Q6QNK2     VAR_077776  p.Thr630Ile    LB/B     rs145482553    -
ADGRD1    Q6QNK2     VAR_077777  p.Ser667Leu    LB/B     rs377401276    -
ADGRD1    Q6QNK2     VAR_077778  p.Arg673His    LB/B     rs141128784    -
ADGRD1    Q6QNK2     VAR_077779  p.Met695Thr    LB/B     rs143163307    -
ADGRD1    Q6QNK2     VAR_077780  p.Gly699Arg    LB/B     rs149859410    -
ADGRD1    Q6QNK2     VAR_077781  p.Ala720Val    LB/B     rs141439159    -
ADGRD1    Q6QNK2     VAR_077782  p.Ala743Thr    LB/B     rs143902981    -
ADGRD1    Q6QNK2     VAR_077783  p.His749Arg    LB/B     rs372207677    -
ADGRD1    Q6QNK2     VAR_077784  p.Asp751Glu    LB/B     rs147763331    -
ADGRD1    Q6QNK2     VAR_077785  p.Ala761Glu    LB/B     rs369201469    -
ADGRD1    Q6QNK2     VAR_077786  p.Val764Met    LB/B     rs149434203    -
ADGRD1    Q6QNK2     VAR_077787  p.Val777Met    LB/B     rs144814859    -
ADGRD1    Q6QNK2     VAR_077788  p.Ala779Val    LB/B     rs61746588     -
ADGRD1    Q6QNK2     VAR_077789  p.Thr793Met    LB/B     rs375488636    -
ADGRD1    Q6QNK2     VAR_077790  p.Asn795Lys    LB/B     rs369853823    -
ADGRD1    Q6QNK2     VAR_077791  p.Ala816Thr    LB/B     rs368828722    -
ADGRD1    Q6QNK2     VAR_077792  p.Thr827Met    LB/B     rs371135988    -
ADGRD1    Q6QNK2     VAR_077793  p.Ala831Thr    LB/B     rs146661482    -
ADGRD1    Q6QNK2     VAR_077794  p.Ala836Thr    LB/B     rs144023497    -
ADGRD1    Q6QNK2     VAR_077795  p.Ala836Val    LB/B     rs367789023    -
ADGRD1    Q6QNK2     VAR_077796  p.Met851Thr    LB/B     rs78058857     -
ADGRD1    Q6QNK2     VAR_077797  p.Arg868His    LB/B     rs61740366     -
ADGRD1    Q6QNK2     VAR_077798  p.Val869Ile    LB/B     rs377434309    -
ADGRD1    Q6QNK2     VAR_077799  p.Asp870Asn    LB/B     rs143670024    -
ADGRD1    Q6QNK2     VAR_077800  p.Val874Met    LB/B     rs148442158    -
ADGRD2    Q7Z7M1     VAR_083658  p.Pro170Ser    LB/B     -              -
ADGRD2    Q7Z7M1     VAR_083659  p.Ala630Thr    LB/B     -              -
ADGRE1    Q14246     VAR_027616  p.Ala57Thr     LB/B     rs330877       -
ADGRE1    Q14246     VAR_027617  p.Ser140Arg    LB/B     rs330880       -
ADGRE1    Q14246     VAR_027618  p.Asp174Asn    LB/B     rs897738       -
ADGRE1    Q14246     VAR_027619  p.Asn254Ser    LB/B     rs443658       -
ADGRE1    Q14246     VAR_027620  p.Ala298Val    LB/B     rs370094       -
ADGRE1    Q14246     VAR_027621  p.Thr389Met    LB/B     rs466876       -
ADGRE1    Q14246     VAR_027622  p.Ile424Val    LB/B     rs457857       -
ADGRE1    Q14246     VAR_027623  p.Lys496Gln    LB/B     rs373533       -
ADGRE1    Q14246     VAR_027624  p.Ile539Val    LB/B     rs461645       -
ADGRE1    Q14246     VAR_027625  p.Val589Ile    LB/B     rs7256147      -
ADGRE1    Q14246     VAR_027626  p.Phe691Cys    LB/B     rs2229769      -
ADGRE1    Q14246     VAR_027627  p.Val724Leu    LB/B     rs10406580     -
ADGRE1    Q14246     VAR_046976  p.Arg2Leu      LB/B     rs34176643     -
ADGRE1    Q14246     VAR_046977  p.Met663Thr    LB/B     rs2228539      -
ADGRE2    Q9UHX3     VAR_026719  p.Thr605Ile    LB/B     rs4410209      -
ADGRE2    Q9UHX3     VAR_026720  p.Leu614Phe    LB/B     rs2524383      -
ADGRE2    Q9UHX3     VAR_026721  p.Ser665Phe    LB/B     rs3752187      -
ADGRE2    Q9UHX3     VAR_061229  p.Ala314Val    LB/B     rs35612307     -
ADGRE2    Q9UHX3     VAR_061230  p.Glu720Asp    LB/B     rs57865820     -
ADGRE2    Q9UHX3     VAR_078578  p.Cys492Tyr    LP/P     rs199718602    Vibratory urticaria (VBU) [MIM:125630]
ADGRE3    Q9BY15     VAR_024472  p.Glu127Gln    LB/B     rs4606855      -
ADGRE3    Q9BY15     VAR_055926  p.Ala236Val    LB/B     rs34226397     -
ADGRE3    Q9BY15     VAR_060442  p.Arg385Gln    LB/B     rs45508602     -
ADGRE5    P48960     VAR_017760  p.Arg367Gln    LB/B     rs2230748      -
ADGRF1    Q5T601     VAR_055928  p.Ile787Val    LB/B     rs1226475      -
ADGRF2    Q8IZF7     VAR_024473  p.Gln148Arg    LB/B     rs6907125      -
ADGRF2    Q8IZF7     VAR_024474  p.Ile467Val    LB/B     rs9381594      -
ADGRF3    Q8IZF5     VAR_024475  p.Ala404Thr    LB/B     rs2052937      -
ADGRF4    Q8IZF3     VAR_024476  p.Lys541Asn    LB/B     rs9369738      -
ADGRF4    Q8IZF3     VAR_036224  p.Ser674Leu    US       rs572583506    A breast cancer sample
ADGRF4    Q8IZF3     VAR_055930  p.Arg507Cys    LB/B     rs12110938     -
ADGRF5    Q8IZF2     VAR_024477  p.Met856Thr    LB/B     rs547499       -
ADGRF5    Q8IZF2     VAR_025326  p.Thr604Met    LB/B     rs586024       -
ADGRF5    Q8IZF2     VAR_055291  p.Val801Ile    LB/B     rs9395218      -
ADGRG1    Q9Y653     VAR_017910  p.Ser281Arg    LB/B     rs1801257      -
ADGRG1    Q9Y653     VAR_017911  p.Gln306His    LB/B     rs1801255      -
ADGRG1    Q9Y653     VAR_026242  p.Arg38Trp     LP/P     rs121908462    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_026243  p.Tyr88Cys     LP/P     rs121908466    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_026244  p.Cys91Ser     LP/P     rs121908465    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_026245  p.Cys346Ser    LP/P     rs121908463    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_026246  p.Arg565Trp    LP/P     rs121908464    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_049457  p.Met493Thr    LB/B     rs17379472     -
ADGRG1    Q9Y653     VAR_049458  p.Pro527Leu    LB/B     rs16958679     -
ADGRG1    Q9Y653     VAR_069581  p.Arg38Gln     LP/P     rs764367185    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_069582  p.Trp349Ser    LP/P     -              Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_069583  p.Glu496Lys    LP/P     rs556518689    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_069584  p.Leu640Arg    LP/P     -              Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG2    Q8IZP9     VAR_055289  p.His290Gln    LB/B     rs35974297     -
ADGRG2    Q8IZP9     VAR_055290  p.Asn771Ser    LB/B     rs3924227      -
ADGRG2    Q8IZP9     VAR_076259  p.Pro224Ser    LB/B     rs140334931    -
ADGRG2    Q8IZP9     VAR_080773  p.Asn64Ser     US       rs746638813    -
ADGRG3    Q86Y34     VAR_055927  p.Ala430Thr    LB/B     rs2290178      -
ADGRG4    Q8IZF6     VAR_055929  p.Ile276Met    LB/B     rs4829829      -
ADGRG4    Q8IZF6     VAR_059329  p.Pro368His    LB/B     rs5930931      -
ADGRG4    Q8IZF6     VAR_059330  p.Thr1213Asn   LB/B     rs4829830      -
ADGRG4    Q8IZF6     VAR_059331  p.Ser1540Pro   LB/B     rs912002       -
ADGRG4    Q8IZF6     VAR_059332  p.Phe1791Leu   LB/B     rs5930932      -
ADGRG6    Q86SQ4     VAR_024478  p.Lys230Gln    LB/B     rs11155242     -
ADGRG6    Q86SQ4     VAR_054128  p.Ser123Gly    LB/B     rs17280293     -
ADGRG6    Q86SQ4     VAR_054129  p.Gln1127Arg   LB/B     rs1262686      -
ADGRG6    Q86SQ4     VAR_075146  p.Val741Glu    LP/P     -              Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503]
ADGRG6    Q86SQ4     VAR_075147  p.Val769Glu    LP/P     rs793888525    Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503]
ADGRG6    Q86SQ4     VAR_076965  p.Arg1057Gln   LB/B     rs536714306    -
ADGRG7    Q96K78     VAR_049459  p.Thr645Ser    LB/B     rs16842529     -
ADGRG7    Q96K78     VAR_049460  p.Arg756His    LB/B     rs9872512      -
ADGRG7    Q96K78     VAR_055138  p.Lys151Glu    LB/B     rs1144122      -
ADGRL1    O94910     VAR_049463  p.Glu595Gln    LB/B     rs34759320     -
ADGRL2    O95490     VAR_077836  p.Arg467Thr    US       -              -
ADGRL3    Q9HAR2     VAR_055934  p.Arg465Gln    LB/B     rs35106420     -
ADGRL3    Q9HAR2     VAR_064477  p.Ala247Ser    LB/B     -              -
ADGRL3    Q9HAR2     VAR_064478  p.Thr770Met    LB/B     -              -
ADGRL3    Q9HAR2     VAR_064479  p.Leu915Val    LB/B     -              -
ADGRL4    Q9HBW9     VAR_047072  p.Val300Leu    LB/B     rs12754818     -
ADGRL4    Q9HBW9     VAR_047073  p.His599Gln    LB/B     rs1968956      -
ADGRL4    Q9HBW9     VAR_047074  p.Ala620Gly    LB/B     rs2275902      -
ADGRV1    Q8WXG9     VAR_025995  p.Leu127Arg    LB/B     rs41311333     -
ADGRV1    Q8WXG9     VAR_025996  p.Arg249Lys    LB/B     rs41303344     -
ADGRV1    Q8WXG9     VAR_025997  p.Leu1093Phe   LB/B     rs2366777      -
ADGRV1    Q8WXG9     VAR_025998  p.Thr1927Met   LB/B     rs17544552     -
ADGRV1    Q8WXG9     VAR_025999  p.Val1951Ile   LB/B     rs4916684      -
ADGRV1    Q8WXG9     VAR_026000  p.Asn1985Asp   LB/B     rs41303352     -
ADGRV1    Q8WXG9     VAR_026001  p.Pro1987Leu   LB/B     rs4916685      -
ADGRV1    Q8WXG9     VAR_026002  p.Leu2004Phe   LB/B     rs16868972     -
ADGRV1    Q8WXG9     VAR_026003  p.Tyr2232Cys   LB/B     rs10037067     -
ADGRV1    Q8WXG9     VAR_026004  p.Asn2345Ser   LB/B     rs2366926      -
ADGRV1    Q8WXG9     VAR_026005  p.Gly2379Ala   LB/B     -              -
ADGRV1    Q8WXG9     VAR_026006  p.Asn2584Ser   LB/B     rs1878878      -
ADGRV1    Q8WXG9     VAR_026007  p.Ser2764Leu   LB/B     rs16869016     -
ADGRV1    Q8WXG9     VAR_026008  p.Ala2803Thr   LB/B     rs111033530    -
ADGRV1    Q8WXG9     VAR_026009  p.Ala3217Val   LB/B     rs114137750    -
ADGRV1    Q8WXG9     VAR_026010  p.Gly3248Asp   LB/B     rs16869032     -
ADGRV1    Q8WXG9     VAR_026011  p.Glu3471Lys   LB/B     rs2366928      -
ADGRV1    Q8WXG9     VAR_026012  p.Glu5344Gly   LB/B     rs2438374      -
ADGRV1    Q8WXG9     VAR_026013  p.Thr5437Ala   LB/B     rs770471921    -
ADGRV1    Q8WXG9     VAR_046346  p.Val551Ala    LB/B     rs6889939      -
ADGRV1    Q8WXG9     VAR_046347  p.Ile1187Val   LB/B     rs16868935     -
ADGRV1    Q8WXG9     VAR_046348  p.Thr1916Ile   LB/B     rs35791889     -
ADGRV1    Q8WXG9     VAR_046349  p.Arg2097Cys   LB/B     rs16868974     -
ADGRV1    Q8WXG9     VAR_046350  p.Val3094Ile   LB/B     rs13157270     -
ADGRV1    Q8WXG9     VAR_046351  p.Phe3347Leu   LB/B     rs10067636     -
ADGRV1    Q8WXG9     VAR_046352  p.Glu3867Ala   LB/B     rs16869088     -
ADGRV1    Q8WXG9     VAR_055933  p.Glu3868Ala   LB/B     rs16869088     -
ADGRV1    Q8WXG9     VAR_068032  p.Arg4789Trp   LP/P     rs1131691924   Usher syndrome 2C (USH2C) [MIM:605472]
ADGRV1    Q8WXG9     VAR_068033  p.His5978Arg   LP/P     rs756460900    Usher syndrome 2C (USH2C) [MIM:605472]
ADH1B     P00325     VAR_000426  p.Arg48His     LB/B     rs1229984      -
ADH1B     P00325     VAR_000427  p.Arg370Cys    LB/B     rs2066702      -
ADH1B     P00325     VAR_019322  p.Asn57Lys     LB/B     rs1041969      -
ADH1B     P00325     VAR_019323  p.Thr60Ser     LB/B     rs6413413      -
ADH1C     P00326     VAR_000428  p.Arg272Gln    LB/B     rs1693482      -
ADH1C     P00326     VAR_000429  p.Ile350Val    LB/B     rs698          -
ADH1C     P00326     VAR_023992  p.Arg48His     LB/B     rs35385902     -
ADH1C     P00326     VAR_023993  p.Pro166Ser    LB/B     rs34195308     -
ADH1C     P00326     VAR_023994  p.Pro352Thr    LB/B     rs35719513     -
ADH4      P08319     VAR_023461  p.Ile309Val    LB/B     rs1126671      -
ADH4      P08319     VAR_023462  p.Arg318His    LB/B     rs29001219     -
ADH4      P08319     VAR_023463  p.Val374Ile    LB/B     rs1126673      -
ADH5      P11766     VAR_025823  p.Leu163Ser    LB/B     rs28730623     -
ADH5      P11766     VAR_025824  p.Val309Ile    LB/B     rs28730628     -
ADH5      P11766     VAR_048199  p.Asp353Glu    LB/B     rs16996593     -
ADH6      P28332     VAR_022655  p.Cys102Gly    LB/B     rs28720152     -
ADH6      P28332     VAR_022656  p.Ile114Val    LB/B     rs28720153     -
ADH6      P28332     VAR_048198  p.Thr151Pro    LB/B     rs34582580     -
ADH7      P40394     VAR_024364  p.Gly92Ala     LB/B     rs1573496      -
ADHFE1    Q8IWW8     VAR_039470  p.Asp242Val    US       -              A breast cancer sample
ADHFE1    Q8IWW8     VAR_054015  p.Cys449Arg    LB/B     rs1060242      -
ADIPOQ    Q15848     VAR_013273  p.Gly84Arg     LB/B     rs199646033    -
ADIPOQ    Q15848     VAR_013274  p.Arg112Cys    LP/P     rs121917815    Adiponectin deficiency (ADPND) [MIM:612556]
ADIPOQ    Q15848     VAR_013275  p.Val117Met    LB/B     rs747223144    -
ADIPOQ    Q15848     VAR_013276  p.Ile164Thr    LB/B     rs185847354    -
ADIPOQ    Q15848     VAR_013277  p.Arg221Ser    LB/B     rs138773406    -
ADIPOQ    Q15848     VAR_013278  p.His241Pro    LB/B     rs141205818    -
ADIPOQ    Q15848     VAR_027395  p.Gly90Ser     LB/B     rs62625753     -
ADIPOQ    Q15848     VAR_027396  p.Tyr111His    LB/B     rs17366743     -
ADIPOR2   Q86V24     VAR_048203  p.Gln39Arg     LB/B     rs12298275     -
ADK       P55263     VAR_066640  p.Gly30Glu     LP/P     rs397514454    Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
ADK       P55263     VAR_066641  p.Asp235Ala    LP/P     rs397514453    Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
ADK       P55263     VAR_066642  p.Ala318Glu    LP/P     rs397514452    Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
ADM       P35318     VAR_014861  p.Ser50Arg     LB/B     rs5005         -
ADM       P35318     VAR_048205  p.Pro85Arg     LB/B     rs2228573      -
ADNP      Q9H2P0     VAR_078696  p.Gly1094Val   US       rs780706686    -
ADO       Q96SZ5     VAR_025333  p.Gly25Trp     LB/B     rs2236295      -
ADO       Q96SZ5     VAR_025334  p.Pro39Ala     LB/B     rs10995311     -
ADO       Q96SZ5     VAR_033691  p.Pro266Ser    LB/B     rs569705       -
ADORA1    P30542     VAR_035754  p.Glu170Lys    US       rs899207013    A colorectal cancer sample
ADORA1    P30542     VAR_044138  p.Ala43Ser     LB/B     rs11547175     -
ADORA1    P30542     VAR_044139  p.Ser50Pro     LB/B     rs11547174     -
ADORA1    P30542     VAR_044140  p.Arg105His    LB/B     rs11547176     -
ADORA1    P30542     VAR_044141  p.Pro261Gln    LB/B     rs17852405     -
ADORA1    P30542     VAR_078549  p.Gly279Ser    US       rs748346254    -
ADORA2A   P29274     VAR_003451  p.Gly392Arg    LB/B     rs1277013918   -
ADORA2A   P29274     VAR_011835  p.Ala50Val     LB/B     rs4530         -
ADORA2A   P29274     VAR_011836  p.Arg300His    LB/B     rs4990         -
ADORA3    P0DMS8     VAR_035755  p.Ala105Thr    US       rs746154553    A colorectal cancer sample
ADORA3    P0DMS8     VAR_049366  p.Ile248Leu    LB/B     rs35511654     -
ADORA3    P0DMS8     VAR_049367  p.Met266Lys    LB/B     rs2800889      -
ADPGK     Q9BRR6     VAR_060085  p.Lys184Arg    LB/B     rs8024644      -
ADPRHL1   Q8NDY3     VAR_048890  p.Ala7Val      LB/B     rs9577273      -
ADPRM     Q3LIE5     VAR_032125  p.Leu92Arg     LB/B     rs34940296     -
ADPRM     Q3LIE5     VAR_032126  p.Glu337Gly    LB/B     rs406446       -
ADPRS     Q9NX46     VAR_030579  p.Glu209Lys    LB/B     rs2236387      -
ADPRS     Q9NX46     VAR_081264  p.Asp34Asn     US       rs1557732234   Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
ADPRS     Q9NX46     VAR_081265  p.Thr79Pro     LP/P     rs1557733311   Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
ADPRS     Q9NX46     VAR_081267  p.Ser177Leu    US       rs200626873    Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
ADPRS     Q9NX46     VAR_081270  p.Val335Gly    LP/P     rs201735454    Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
ADRA1A    P35348     VAR_019509  p.Cys347Arg    LB/B     rs1048101      -
ADRA1A    P35348     VAR_035756  p.Gly40Trp     US       -              A breast cancer sample
ADRA1A    P35348     VAR_049370  p.Ile200Ser    LB/B     rs2229125      -
ADRA1A    P35348     VAR_049371  p.Lys414Arg    LB/B     rs3730247      -
ADRA1A    P35348     VAR_049372  p.Glu465Asp    LB/B     rs2229126      -
ADRA1B    P35368     VAR_019510  p.Val51Gly     LB/B     rs8192448      -
ADRA2A    P08913     VAR_014957  p.Asn266Lys    LB/B     rs1800035      -
ADRA2A    P08913     VAR_055908  p.Cys416Ser    LB/B     rs35658213     -
ADRA2B    P18089     VAR_025099  p.Gly211Ala    LB/B     rs9333568      -
ADRA2B    P18089     VAR_025100  p.Val379Gly    LB/B     rs527655811    -
ADRA2B    P18089     VAR_033462  p.Val376Ile    LB/B     rs1431850417   -
ADRA2B    P18089     VAR_033463  p.Val379Ile    LB/B     rs29000569     -
ADRB1     P08588     VAR_009879  p.Ser49Gly     LB/B     rs1801252      -
ADRB1     P08588     VAR_009880  p.Arg389Gly    LB/B     rs1801253      -
ADRB1     P08588     VAR_018742  p.Arg389Leu    LB/B     rs17875445     -
ADRB1     P08588     VAR_055909  p.Ala26Val     LB/B     rs34844626     -
ADRB1     P08588     VAR_055910  p.Ala29Thr     LB/B     rs35720093     -
ADRB1     P08588     VAR_055911  p.Arg31Gln     LB/B     rs35230616     -
ADRB1     P08588     VAR_055912  p.Arg399His    LB/B     rs36052953     -
ADRB1     P08588     VAR_055913  p.His405Tyr    LB/B     rs35705839     -
ADRB1     P08588     VAR_082587  p.Ala187Val    LB/B     rs776439595    -
ADRB2     P07550     VAR_003452  p.Gly16Arg     LB/B     rs1042713      -
ADRB2     P07550     VAR_003453  p.Glu27Gln     LB/B     rs1042714      -
ADRB2     P07550     VAR_003454  p.Val34Met     LB/B     rs990810566    -
ADRB2     P07550     VAR_003455  p.Thr164Ile    LB/B     rs1800888      -
ADRB2     P07550     VAR_009124  p.Ile159Leu    LB/B     -              -
ADRB2     P07550     VAR_009125  p.Ile159Phe    LB/B     -              -
ADRB2     P07550     VAR_009394  p.Lys375Arg    LB/B     rs771585355    -
ADRB2     P07550     VAR_025101  p.Ser220Cys    LB/B     rs3729943      -
ADRB2     P07550     VAR_049373  p.Asn15Ser     LB/B     rs33973603     -
ADRB3     P13945     VAR_003456  p.Trp64Arg     LB/B     rs4994         -
ADRB3     P13945     VAR_014166  p.Thr265Met    LB/B     rs4995         -
ADRB3     P13945     VAR_025102  p.Arg353Cys    LB/B     rs36031925     -
ADRB3     P13945     VAR_029205  p.Glu249Lys    LB/B     rs28364012     -
ADSL      P30566     VAR_000680  p.Ser438Pro    LP/P     rs119450940    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007972  p.Ile72Val     LP/P     -              Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007973  p.Arg141Trp    LP/P     rs756210458    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007974  p.Arg190Gln    LP/P     rs28941471     Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007975  p.Lys246Glu    LP/P     rs119450944    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007976  p.Arg303Cys    LP/P     rs373458753    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007977  p.Ser395Arg    LP/P     -              Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007978  p.Arg426His    LP/P     rs119450941    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_016930  p.Ala2Val      LP/P     rs143083947    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_016931  p.Met26Leu     LP/P     rs1311171245   Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_016932  p.Thr450Ser    LP/P     rs372895468    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017078  p.Ala3Val      LP/P     -              Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017079  p.Pro100Ala    LP/P     rs119450942    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017080  p.Tyr114His    LP/P     rs374259530    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017081  p.Arg194Cys    LP/P     rs1465152683   Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017082  p.Asp268Asn    LP/P     rs746501563    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017083  p.Leu311Val    LP/P     -              Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017084  p.Pro318Leu    LP/P     rs202064195    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017085  p.Val364Met    LP/P     rs370851726    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017086  p.Arg374Trp    LP/P     rs376533026    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017087  p.Arg396Cys    LP/P     rs755492501    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017088  p.Arg396His    LP/P     rs763542069    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017089  p.Asp422Tyr    LP/P     rs119450943    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017090  p.Leu423Val    LP/P     -              Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017091  p.Asp430Asn    LP/P     rs554254383    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017092  p.Ser447Pro    LP/P     rs777821034    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017093  p.Arg452Pro    LP/P     -              Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_037883  p.Ser31Asn     LB/B     rs5757921      -
ADSL      P30566     VAR_037884  p.Lys147Met    LB/B     rs11089991     -
ADSS1     Q8N142     VAR_076998  p.Asp261Asn    LP/P     rs140614802    Myopathy, distal, 5 (MPD5) [MIM:617030]
ADSS2     P30520     VAR_051881  p.Leu179Phe    LB/B     rs12134870     -
ADTRP     Q96IZ2     VAR_024365  p.Val202Ile    LB/B     rs2076185      -
AEBP1     Q8IUX7     VAR_043118  p.Pro273Thr    LB/B     rs2537188      -
AEBP1     Q8IUX7     VAR_043119  p.Asp648Glu    LB/B     rs11770649     -
AEBP1     Q8IUX7     VAR_043120  p.Pro1001Leu   LB/B     rs4724285      -
AEBP1     Q8IUX7     VAR_043121  p.Lys1133Glu   LB/B     rs13928        -
AEBP1     Q8IUX7     VAR_043122  p.Val1148Ile   LB/B     rs13898        -
AEN       Q8WTP8     VAR_039651  p.Pro15Leu     LB/B     rs3743477      -
AEN       Q8WTP8     VAR_039652  p.Ser88Cys     LB/B     rs8026929      -
AEN       Q8WTP8     VAR_039653  p.Asn140Asp    LB/B     rs8027765      -
AFAP1     Q8N556     VAR_038578  p.Ser403Cys    LB/B     rs28406288     -
AFAP1     Q8N556     VAR_038579  p.Val518Met    LB/B     rs41264705     -
AFAP1L2   Q8N4X5     VAR_050505  p.Gly138Arg    LB/B     rs11196689     -
AFAP1L2   Q8N4X5     VAR_050506  p.Ser366Arg    LB/B     rs7075067      -
AFAP1L2   Q8N4X5     VAR_050507  p.Thr522Ser    LB/B     rs2781806      -
AFAP1L2   Q8N4X5     VAR_054214  p.Glu726Lys    LB/B     rs11599051     -
AFF1      P51825     VAR_020370  p.Pro209Ala    LB/B     rs3733378      -
AFF1      P51825     VAR_036130  p.Gln1204Lys   US       -              A breast cancer sample
AFF2      P51816     VAR_028217  p.Leu1185Met   LB/B     rs12858959     -
AFF3      P51826     VAR_030805  p.Asn358Ser    LB/B     rs4851223      -
AFF3      P51826     VAR_030806  p.Asn494Ser    LB/B     rs1047265      -
AFF3      P51826     VAR_080758  p.Gly1215Val   US       -              -
AFF4      Q9UHB7     VAR_053003  p.Thr136Pro    LB/B     rs34527550     -
AFF4      Q9UHB7     VAR_064693  p.Ser757Thr    US       -              -
AFF4      Q9UHB7     VAR_073790  p.Thr254Ala    LP/P     rs786205233    CHOPS syndrome (CHOPS) [MIM:616368]
AFF4      Q9UHB7     VAR_073791  p.Thr254Ser    LP/P     rs786205679    CHOPS syndrome (CHOPS) [MIM:616368]
AFF4      Q9UHB7     VAR_073792  p.Arg258Trp    LP/P     rs786205680    CHOPS syndrome (CHOPS) [MIM:616368]
AFG3L2    Q9Y4W6     VAR_063544  p.Asn432Thr    LP/P     rs151344512    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_063545  p.Glu691Lys    LP/P     rs151344520    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_063546  p.Ala694Glu    LP/P     rs151344521    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_063547  p.Arg702Gln    LP/P     rs151344523    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064402  p.Thr654Ile    LP/P     rs151344513    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064403  p.Met666Arg    LP/P     rs151344515    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064404  p.Met666Thr    LP/P     rs151344515    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064405  p.Met666Val    LP/P     rs151344514    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064406  p.Gly671Glu    LP/P     rs151344518    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064407  p.Gly671Arg    LP/P     rs151344517    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064408  p.Glu700Lys    LP/P     rs151344522    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_067330  p.Tyr616Cys    LP/P     rs387906889    Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487]
AFG3L2    Q9Y4W6     VAR_075198  p.Tyr689His    LP/P     -              Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_075199  p.Tyr689Asn    LP/P     -              Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_080736  p.Leu621Val    US       -              Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFM       P43652     VAR_048218  p.Thr404Ser    LB/B     rs2276444      -
AFM       P43652     VAR_061003  p.Arg395His    LB/B     rs41265665     -
AFP       P02771     VAR_012049  p.Ala570Gly    LB/B     rs7790         -
AFP       P02771     VAR_033928  p.Lys187Gln    LB/B     rs35765619     -
AFTPH     Q6ULP2     VAR_056728  p.Asp233Gly    LB/B     rs35986567     -
AFTPH     Q6ULP2     VAR_056729  p.Glu301Lys    LB/B     rs3770740      -
AFTPH     Q6ULP2     VAR_056730  p.Asn550Ser    LB/B     rs3770739      -
AGA       P20933     VAR_005069  p.Gly60Asp     LP/P     rs121964907    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005070  p.Ser72Pro     LP/P     rs121964909    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005071  p.Ala101Val    LP/P     rs121964908    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005072  p.Arg161Gln    LP/P     rs192195150    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005073  p.Cys163Ser    LP/P     rs121964904    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005074  p.Gly302Arg    LP/P     rs121964905    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005075  p.Cys306Arg    LP/P     rs121964906    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015427  p.Val12Leu     US       rs74626221     Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015428  p.Gly100Glu    LP/P     rs386833421    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015429  p.Phe135Ser    LP/P     rs386833427    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015430  p.Gly252Glu    LP/P     rs386833433    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015431  p.Gly252Arg    LP/P     rs386833432    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015432  p.Thr257Ile    LP/P     rs386833434    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_033533  p.Thr149Ser    LB/B     rs2228119      -
AGA       P20933     VAR_061026  p.Thr322Ile    LB/B     rs56849061     -
AGAP1     Q9UPQ3     VAR_019550  p.Glu829Lys    LB/B     rs15718        -
AGAP1     Q9UPQ3     VAR_026446  p.Ser82Gly     US       -              -
AGAP1     Q9UPQ3     VAR_026447  p.Asp148Gly    LB/B     rs17855721     -
AGAP1     Q9UPQ3     VAR_026448  p.Val671Ile    LB/B     rs2034648      -
AGAP1     Q9UPQ3     VAR_026449  p.Arg798Gly    LB/B     rs762355360    -
AGAP1     Q9UPQ3     VAR_026450  p.Pro854Thr    LB/B     rs368301945    -
AGAP11    Q8TF27     VAR_042518  p.Ile82Val     LB/B     rs2641563      -
AGAP2     Q99490     VAR_022046  p.Gly507Ser    LB/B     rs2301553      -
AGAP2     Q99490     VAR_026438  p.Val455Ala    US       -              A glioblastoma cell line
AGAP2     Q99490     VAR_026439  p.Arg518Gly    US       -              A sarcoma cell line
AGAP2     Q99490     VAR_026440  p.Thr568Ile    US       -              -
AGAP2     Q99490     VAR_026441  p.Ala651Val    US       -              A glioblastoma cell line
AGAP2     Q99490     VAR_026442  p.Glu767Val    US       -              A glioblastoma cell line
AGAP2     Q99490     VAR_026443  p.Asn939Asp    US       -              A glioblastoma cell line
AGAP2     Q99490     VAR_026444  p.Val947Met    US       -              A sarcoma cell line
AGAP2     Q99490     VAR_026445  p.Ser1022Pro   US       -              A glioblastoma cell line
AGAP2     Q99490     VAR_036183  p.Thr339Ala    US       -              A breast cancer sample
AGAP2     Q99490     VAR_036184  p.Asp816Tyr    US       -              A breast cancer sample
AGAP2     Q99490     VAR_055532  p.Gly1124Val   LB/B     rs238521       -
AGAP4     Q96P64     VAR_031804  p.Lys661Glu    LB/B     rs15718        -
AGBL1     Q96MI9     VAR_048604  p.Pro463Leu    LB/B     rs8029810      -
AGBL1     Q96MI9     VAR_048605  p.Ser481Pro    LB/B     rs11857527     -
AGBL1     Q96MI9     VAR_059195  p.Gln1056Arg   LB/B     rs8028043      -
AGBL1     Q96MI9     VAR_070225  p.Cys1036Ser   LP/P     rs181958589    Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523]
AGBL2     Q5U5Z8     VAR_031572  p.Arg349His    LB/B     rs7941404      -
AGBL2     Q5U5Z8     VAR_046637  p.Ile90Arg     LB/B     rs12795414     -
AGBL2     Q5U5Z8     VAR_046638  p.Thr333Pro    LB/B     rs35898124     -
AGBL2     Q5U5Z8     VAR_046639  p.Asp368Gly    LB/B     rs1870545      -
AGBL2     Q5U5Z8     VAR_046640  p.Met671Ile    LB/B     rs12286721     -
AGBL3     Q8NEM8     VAR_031573  p.Phe45Tyr     LB/B     rs2348049      -
AGBL3     Q8NEM8     VAR_031574  p.Glu122Gln    LB/B     rs4236655      -
AGBL3     Q8NEM8     VAR_031575  p.Thr360Ile    LB/B     rs17804854     -
AGBL4     Q5VU57     VAR_061078  p.Val443Met    LB/B     rs60977321     -
AGBL5     Q8NDL9     VAR_035231  p.Gly649Asp    LB/B     rs35804461     -
AGBL5     Q8NDL9     VAR_077018  p.Arg276Trp    LP/P     rs879253769    Retinitis pigmentosa 75 (RP75) [MIM:617023]
AGBL5     Q8NDL9     VAR_077019  p.Asp295Asn    LP/P     rs879253768    Retinitis pigmentosa 75 (RP75) [MIM:617023]
AGBL5     Q8NDL9     VAR_079522  p.Pro108Arg    US       -              Retinitis pigmentosa 75 (RP75) [MIM:617023]
AGBL5     Q8NDL9     VAR_079523  p.Val251Gly    US       -              Retinitis pigmentosa 75 (RP75) [MIM:617023]
AGBL5     Q8NDL9     VAR_079524  p.Arg281Cys    US       rs780394281    Retinitis pigmentosa 75 (RP75) [MIM:617023]
AGER      Q15109     VAR_011338  p.Gln100Arg    LB/B     -              -
AGER      Q15109     VAR_024500  p.Gly82Ser     LB/B     rs2070600      -
AGFG2     O95081     VAR_050566  p.Thr365Asn    LB/B     rs34731997     -
AGGF1     Q8N302     VAR_017901  p.Glu133Lys    LP/P     rs34203073     Klippel-Trenaunay syndrome (KTS) [MIM:149000]
AGGF1     Q8N302     VAR_017902  p.Pro698Thr    LB/B     rs34400049     -
AGGF1     Q8N302     VAR_037446  p.Thr180Ala    LB/B     rs9715897      -
AGGF1     Q8N302     VAR_037447  p.Leu471Pro    LB/B     rs17856835     -
AGK       Q53H12     VAR_027848  p.Val3Met      LB/B     rs10262855     -
AGL       P35573     VAR_009230  p.Gly1115Arg   LB/B     rs2230307      -
AGL       P35573     VAR_009231  p.Gly1448Arg   LP/P     rs118203964    Glycogen storage disease 3 (GSD3) [MIM:232400]
AGL       P35573     VAR_009621  p.Arg387Gln    LB/B     rs17121464     -
AGL       P35573     VAR_009622  p.Glu1343Lys   LB/B     rs112795811    -
AGL       P35573     VAR_020389  p.Pro1067Ser   LB/B     rs3753494      -
AGL       P35573     VAR_028051  p.Gln229Arg    LB/B     rs17121403     -
AGL       P35573     VAR_028052  p.Ala701Ser    LB/B     rs3736297      -
AGL       P35573     VAR_028053  p.Ile1144Asn   LB/B     rs2230308      -
AGL       P35573     VAR_028054  p.Arg1253His   LB/B     rs12043139     -
AGL       P35573     VAR_028055  p.Arg1487Gly   LB/B     rs12118058     -
AGL       P35573     VAR_032084  p.Thr38Ala     LB/B     rs35278779     -
AGL       P35573     VAR_032085  p.Ser962Cys    LB/B     rs34714252     -
AGL       P35573     VAR_051010  p.Ala1207Thr   LB/B     rs11807956     -
AGMAT     Q9BSE5     VAR_023485  p.Gly105Arg    LB/B     rs6429757      -
AGMAT     Q9BSE5     VAR_048332  p.Arg140Gln    LB/B     rs11580170     -
AGMO      Q6ZNB7     VAR_062201  p.Phe279Leu    LB/B     rs58564185     -
AGMO      Q6ZNB7     VAR_062202  p.Ser280Tyr    LB/B     rs59160822     -
AGO1      Q9UL18     VAR_078651  p.Gly199Ser    LP/P     -              -
AGPAT1    Q99943     VAR_050593  p.Pro30Ser     LB/B     rs11964847     -
AGPAT2    O15120     VAR_017325  p.Ala239Val    LP/P     rs145975461    Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
AGPAT2    O15120     VAR_017327  p.Leu228Pro    LP/P     rs104894100    Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
AGPAT2    O15120     VAR_017328  p.Gly136Arg    LP/P     rs797045222    Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
AGPAT5    Q9NUQ2     VAR_022696  p.Tyr77Cys     LB/B     rs17077958     -
AGPS      O00116     VAR_005002  p.Arg419His    LP/P     rs121434411    Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_025895  p.Thr309Ile    LP/P     rs121434412    Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_025896  p.Leu469Pro    LP/P     rs121434413    Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_066929  p.Arg182Gln    LP/P     -              Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_066930  p.Glu471Lys    LP/P     -              Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_066931  p.Thr568Met    LP/P     rs387907214    Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGRN      O00468     VAR_048966  p.Val1666Ile   LB/B     rs17160775     -
AGRN      O00468     VAR_068724  p.Val23Leu     LB/B     -              -
AGRN      O00468     VAR_068725  p.Asp58Asn     LB/B     -              -
AGRN      O00468     VAR_068726  p.Asn105Ile    LP/P     -              Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
AGRN      O00468     VAR_068727  p.Thr267Met    LB/B     -              -
AGRN      O00468     VAR_068728  p.Ala375Ser    LB/B     rs138031468    -
AGRN      O00468     VAR_068729  p.Glu728Val    LB/B     rs113288277    -
AGRN      O00468     VAR_068730  p.Gln852Arg    LB/B     rs9697293      -
AGRN      O00468     VAR_068731  p.Val984Met    LB/B     -              -
AGRN      O00468     VAR_068732  p.Leu1088Phe   LB/B     rs150132566    -
AGRN      O00468     VAR_068733  p.Thr1118Lys   LB/B     rs149159118    -
AGRN      O00468     VAR_068734  p.Gln1135Arg   LB/B     rs142416636    -
AGRN      O00468     VAR_068735  p.Pro1240Leu   LB/B     rs142620337    -
AGRN      O00468     VAR_068736  p.Gly1341Arg   LB/B     -              -
AGRN      O00468     VAR_068737  p.Pro1451Leu   LB/B     -              -
AGRN      O00468     VAR_068738  p.Ala1514Thr   LB/B     rs111818381    -
AGRN      O00468     VAR_068739  p.Gln1565His   LB/B     rs199876002    -
AGRN      O00468     VAR_068740  p.Arg1671Gln   LB/B     -              -
AGRN      O00468     VAR_068741  p.Arg1698Pro   LB/B     -              -
AGRN      O00468     VAR_068742  p.Gly1709Arg   LP/P     -              Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
AGRN      O00468     VAR_068743  p.Arg1734His   LB/B     rs145444272    -
AGRN      O00468     VAR_068744  p.Asp1789Asn   LB/B     -              -
AGRN      O00468     VAR_068745  p.Gly2046Val   LB/B     -              -
AGRN      O00468     VAR_069066  p.Val1727Phe   LP/P     -              Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
AGRN      O00468     VAR_071367  p.Gly76Ser     LP/P     -              Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
AGRN      O00468     VAR_071368  p.Ala745Val    LB/B     -              -
AGRN      O00468     VAR_071369  p.Gly1875Arg   LP/P     -              Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
AGRP      O00253     VAR_015385  p.Ala67Thr     LB/B     rs5030980      -
AGT       P01019     VAR_007093  p.Thr207Met    LB/B     rs4762         -
AGT       P01019     VAR_007094  p.Thr242Ile    LB/B     rs765678426    -
AGT       P01019     VAR_007095  p.Leu244Arg    LB/B     rs5041         -
AGT       P01019     VAR_007096  p.Met268Thr    LB/B     rs699          -
AGT       P01019     VAR_007097  p.Tyr281Cys    LB/B     rs56073403     -
AGT       P01019     VAR_014573  p.Leu392Met    LB/B     rs1805090      -
AGT       P01019     VAR_022933  p.Leu43Phe     LB/B     rs41271499     -
AGT       P01019     VAR_029166  p.Glu98Lys     LB/B     rs11568032     -
AGT       P01019     VAR_029167  p.Met268Ile    LB/B     rs11568053     -
AGT       P01019     VAR_035431  p.Thr137Met    LB/B     rs34829218     -
AGT       P01019     VAR_035432  p.Pro335Ser    LB/B     rs17856352     -
AGT       P01019     VAR_035433  p.Arg375Gln    LP/P     rs74315283     Renal tubular dysgenesis (RTD) [MIM:267430]
AGT       P01019     VAR_051939  p.Gly114Cys    LB/B     rs2229389      -
AGTPBP1   Q9UPW5     VAR_036884  p.Glu423Lys    US       -              A colorectal cancer sample
AGTPBP1   Q9UPW5     VAR_081909  p.Tyr694Asp    LP/P     rs1564071824   Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
AGTPBP1   Q9UPW5     VAR_081911  p.Arg799Cys    US       -              Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
AGTPBP1   Q9UPW5     VAR_081912  p.Thr851Met    LP/P     rs760300826    Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
AGTPBP1   Q9UPW5     VAR_081914  p.Arg910Cys    US       -              Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
AGTPBP1   Q9UPW5     VAR_081915  p.Arg918Trp    LP/P     rs1564035967   Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
AGTPBP1   Q9UPW5     VAR_081916  p.His990Leu    LP/P     rs1564034077   Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
AGTR1     P30556     VAR_011847  p.Cys289Trp    LB/B     rs1064533      -
AGTR1     P30556     VAR_011848  p.Thr336Pro    LB/B     rs1801021      -
AGTR1     P30556     VAR_029206  p.Ala163Thr    LB/B     rs12721226     -
AGTR1     P30556     VAR_029207  p.Ala244Ser    LB/B     rs12721225     -
AGTR1     P30556     VAR_035086  p.Thr282Met    LP/P     rs104893677    Renal tubular dysgenesis (RTD) [MIM:267430]
AGTR1     P30556     VAR_070375  p.Leu222Val    LB/B     rs17852013     -
AGTR1     P30556     VAR_070376  p.Pro341His    LB/B     rs17852012     -
AGTR2     P50052     VAR_011849  p.Arg248Lys    LB/B     rs5191         -
AGTR2     P50052     VAR_011850  p.Cys268Trp    LB/B     rs1042860      -
AGTR2     P50052     VAR_049374  p.Tyr231His    LB/B     rs3729977      -
AGTR2     P50052     VAR_065946  p.Gly21Val     US       rs121917810    -
AGTR2     P50052     VAR_065947  p.Arg324Gln    US       rs35474657     -
AGTR2     P50052     VAR_065948  p.Ile337Val    US       rs121917811    -
AGTRAP    Q6RW13     VAR_023075  p.Ala143Val    LB/B     rs17875960     -
AGXT      P21549     VAR_000587  p.Pro11Leu     LB/B     rs34116584     -
AGXT      P21549     VAR_000588  p.Gly41Arg     LP/P     rs121908523    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000589  p.Phe152Ile    LP/P     rs121908524    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000590  p.Gly170Arg    LP/P     rs121908529    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000591  p.Ser187Phe    LP/P     rs180177238    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000592  p.Ser205Pro    LP/P     rs121908520    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000593  p.Ile340Met    LB/B     rs4426527      -
AGXT      P21549     VAR_008878  p.Gly82Glu     LP/P     rs121908522    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_008879  p.Arg233Cys    LP/P     rs121908526    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_008880  p.Arg233His    LP/P     rs121908527    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_008881  p.Ile244Thr    LP/P     rs121908525    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_010969  p.Gly41Val     LP/P     rs180177168    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_010971  p.Gly116Arg    LP/P     rs180177207    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_010972  p.Gly156Arg    LP/P     rs121908530    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_010973  p.Asp183Asn    LP/P     rs180177236    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_048236  p.Asn22Ser     LB/B     rs34885252     -
AGXT      P21549     VAR_048237  p.Ala295Thr    LB/B     rs13408961     -
AGXT      P21549     VAR_060547  p.Thr9Asn      LB/B     rs115014558    -
AGXT      P21549     VAR_060548  p.Gly82Arg     LP/P     rs180177185    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060549  p.Trp108Arg    LP/P     rs180177197    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060550  p.Ala112Asp    LP/P     rs796052061    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060552  p.Leu153Val    LP/P     rs180177223    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060553  p.Ser158Leu    LP/P     rs180177225    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060554  p.Gly161Arg    LP/P     rs180177227    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060555  p.Cys173Tyr    LP/P     rs180177231    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060556  p.Gly190Arg    LP/P     rs180177239    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060557  p.Met195Arg    LP/P     rs180177244    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060558  p.Asp201Glu    LP/P     rs180177246    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060559  p.Ser218Leu    LP/P     rs180177253    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060560  p.Arg233Leu    LP/P     rs121908527    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060561  p.Asp243His    LP/P     rs180177258    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060562  p.Cys253Arg    LP/P     rs180177264    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060563  p.Ile279Met    LP/P     rs180177277    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060564  p.Ile279Thr    LB/B     rs140992177    -
AGXT      P21549     VAR_060565  p.Ala280Val    LB/B     rs73106685     -
AGXT      P21549     VAR_060566  p.Ser287Thr    LP/P     rs180177289    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060567  p.Arg289Cys    LP/P     rs180177290    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060569  p.Leu298Pro    LP/P     rs180177293    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060570  p.Val326Ile    LB/B     rs115057148    -
AGXT      P21549     VAR_060571  p.Val336Asp    LP/P     rs180177155    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060572  p.Gly350Asp    LP/P     rs180177156    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074582  p.Arg36Cys     LP/P     rs180177157    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074583  p.Gly41Glu     LP/P     rs180177168    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074584  p.Gly47Arg     LP/P     rs180177173    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074585  p.Leu150Pro    LP/P     rs180177222    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074586  p.Gly161Cys    LP/P     rs180177227    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074587  p.Gly161Ser    LP/P     rs180177227    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074588  p.Leu166Pro    LP/P     rs180177230    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074589  p.Ile202Asn    US       rs536352238    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT2     Q9BYV1     VAR_022140  p.Val140Ile    LB/B     rs37369        -
AGXT2     Q9BYV1     VAR_022141  p.Thr212Ile    LB/B     rs180749       -
AGXT2     Q9BYV1     VAR_023483  p.Ser102Asn    LB/B     rs37370        -
AGXT2     Q9BYV1     VAR_029513  p.Val498Leu    LB/B     rs16899974     -
AGXT2     Q9BYV1     VAR_048231  p.Gly132Arg    LB/B     rs16870794     -
AGXT2     Q9BYV1     VAR_048232  p.Pro492Arg    LB/B     rs17245714     -
AGXT2     Q9BYV1     VAR_061006  p.Ser102Ile    LB/B     rs37370        -
AGXT2     Q9BYV1     VAR_061007  p.Ser102Thr    LB/B     rs37370        -
AHCTF1    Q8WYP5     VAR_027037  p.Asn874Ser    LB/B     rs2642990      -
AHCTF1    Q8WYP5     VAR_027038  p.Leu2185Val   LB/B     rs12410563     -
AHCY      P23526     VAR_006934  p.Asp86Asn     LB/B     -              -
AHCY      P23526     VAR_052286  p.Arg38Trp     LB/B     rs13043752     -
AHCY      P23526     VAR_058588  p.Arg49Cys     LP/P     rs369428934    Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHCY      P23526     VAR_058589  p.Asp86Gly     LP/P     rs773162208    Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHCY      P23526     VAR_058590  p.Ala89Val     LP/P     rs755222515    Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHCY      P23526     VAR_058591  p.Tyr143Cys    LP/P     rs121918608    Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHDC1     Q5TGY3     VAR_037765  p.Ala935Thr    LB/B     rs4908364      -
AHI1      Q8N157     VAR_023391  p.Val443Asp    LP/P     rs121434350    Joubert syndrome 3 (JBTS3) [MIM:608629]
AHI1      Q8N157     VAR_037892  p.Ile49Asn     LB/B     -              -
AHI1      Q8N157     VAR_037893  p.Arg548His    LB/B     rs35433555     -
AHI1      Q8N157     VAR_037894  p.Arg723Gln    LP/P     rs121434351    Joubert syndrome 3 (JBTS3) [MIM:608629]
AHI1      Q8N157     VAR_037895  p.Ser761Leu    LB/B     rs794727174    -
AHI1      Q8N157     VAR_037896  p.Arg830Trp    LB/B     rs13312995     -
AHI1      Q8N157     VAR_037897  p.Thr856Ser    LB/B     rs199736888    -
AHI1      Q8N157     VAR_037898  p.Tyr933Cys    LB/B     rs41288013     -
AHI1      Q8N157     VAR_037899  p.Gln1018Pro   LB/B     rs6940875      -
AHI1      Q8N157     VAR_037900  p.Ser1123Phe   LB/B     rs117447608    -
AHI1      Q8N157     VAR_037901  p.Pro1140Ser   LB/B     rs201148693    -
AHI1      Q8N157     VAR_068171  p.Glu1086Gly   LB/B     rs148000791    -
AHI1      Q8N157     VAR_071194  p.Arg351Leu    LP/P     rs397514726    Joubert syndrome 3 (JBTS3) [MIM:608629]
AHI1      Q8N157     VAR_076820  p.Thr671Ile    LP/P     rs772989270    Joubert syndrome 3 (JBTS3) [MIM:608629]
AHI1      Q8N157     VAR_076821  p.Asp719Gly    LP/P     rs863225134    Joubert syndrome 3 (JBTS3) [MIM:608629]
AHI1      Q8N157     VAR_076822  p.His896Arg    LP/P     rs863225135    Joubert syndrome 3 (JBTS3) [MIM:608629]
AHNAK     Q09666     VAR_039058  p.Gly962Val    LB/B     rs664761       -
AHNAK     Q09666     VAR_039059  p.Ala2114Thr   LB/B     rs1298288      -
AHNAK     Q09666     VAR_039060  p.Pro2439Leu   LB/B     rs11824660     -
AHNAK     Q09666     VAR_039061  p.Gln3003Lys   LB/B     rs566144       -
AHNAK     Q09666     VAR_039062  p.Val3190Ile   LB/B     rs11231129     -
AHNAK     Q09666     VAR_039063  p.Ser3724Pro   LB/B     rs11231128     -
AHNAK     Q09666     VAR_039064  p.Gly4561Asp   LB/B     rs12795508     -
AHNAK     Q09666     VAR_039065  p.Met4611Val   LB/B     rs12801302     -
AHNAK     Q09666     VAR_039066  p.Ile4613Val   LB/B     rs12801153     -
AHNAK     Q09666     VAR_039067  p.Asp4631Gly   LB/B     rs12801123     -
AHNAK     Q09666     VAR_039068  p.Thr5415Ala   LB/B     rs11231126     -
AHNAK     Q09666     VAR_061551  p.Lys2247Thr   LB/B     rs61524789     -
AHNAK     Q09666     VAR_061552  p.Asp4304Gly   LB/B     rs11828907     -
AHNAK2    Q8IVF2     VAR_039069  p.Val1266Met   LB/B     rs748458962    -
AHNAK2    Q8IVF2     VAR_039070  p.Leu1470Val   LB/B     -              -
AHNAK2    Q8IVF2     VAR_039071  p.Ser2115Arg   LB/B     rs2582514      -
AHNAK2    Q8IVF2     VAR_039072  p.Asp2429Glu   LB/B     rs11160826     -
AHNAK2    Q8IVF2     VAR_039073  p.Leu2430Val   LB/B     rs2819426      -
AHNAK2    Q8IVF2     VAR_039074  p.Val2616Ala   LB/B     rs4264326      -
AHNAK2    Q8IVF2     VAR_039075  p.Leu5028Met   LB/B     rs9672139      -
AHNAK2    Q8IVF2     VAR_039076  p.Gly5564Arg   LB/B     rs2819420      -
AHNAK2    Q8IVF2     VAR_050635  p.Thr525Ala    LB/B     rs2278607      -
AHNAK2    Q8IVF2     VAR_050636  p.Met2107Val   LB/B     rs11846918     -
AHNAK2    Q8IVF2     VAR_050637  p.Lys2410Arg   LB/B     rs11845746     -
AHNAK2    Q8IVF2     VAR_050638  p.Val3796Leu   LB/B     -              -
AHNAK2    Q8IVF2     VAR_050639  p.Met3961Val   LB/B     rs10141053     -
AHNAK2    Q8IVF2     VAR_050640  p.Ile4071Met   LB/B     rs2582511      -
AHNAK2    Q8IVF2     VAR_050641  p.Phe4138Leu   LB/B     rs2582505      -
AHNAK2    Q8IVF2     VAR_050642  p.Lys4232Asn   LB/B     rs2819423      -
AHNAK2    Q8IVF2     VAR_050643  p.Val4278Ala   LB/B     rs2819422      -
AHNAK2    Q8IVF2     VAR_050644  p.Met4536Leu   LB/B     rs9672139      -
AHNAK2    Q8IVF2     VAR_050645  p.Thr4664Ala   LB/B     rs4465542      -
AHNAK2    Q8IVF2     VAR_050646  p.Gly5072Arg   LB/B     rs2819420      -
AHNAK2    Q8IVF2     VAR_050647  p.Tyr5184Asp   LB/B     rs2819419      -
AHNAK2    Q8IVF2     VAR_050648  p.Pro5397Ala   LB/B     rs3742935      -
AHNAK2    Q8IVF2     VAR_050649  p.Thr5732Met   LB/B     rs748358       -
AHNAK2    Q8IVF2     VAR_059560  p.Glu1856Asp   LB/B     rs2819435      -
AHNAK2    Q8IVF2     VAR_059561  p.Leu2146Val   LB/B     rs12890949     -
AHNAK2    Q8IVF2     VAR_059562  p.Glu2503Ala   LB/B     rs2819429      -
AHNAK2    Q8IVF2     VAR_059563  p.Arg2862Ser   LB/B     rs2582514      -
AHNAK2    Q8IVF2     VAR_059564  p.Asp3176Glu   LB/B     rs11160826     -
AHNAK2    Q8IVF2     VAR_059565  p.Leu3177Val   LB/B     rs2819426      -
AHNAK2    Q8IVF2     VAR_059566  p.Pro3336Leu   LB/B     rs10438247     -
AHNAK2    Q8IVF2     VAR_059567  p.Val3363Ala   LB/B     rs4264326      -
AHNAK2    Q8IVF2     VAR_059568  p.Asp3793Asn   LB/B     rs11160825     -
AHNAK2    Q8IVF2     VAR_059569  p.Met3869Val   LB/B     rs10438246     -
AHNAK2    Q8IVF2     VAR_059570  p.Lys3902Asn   LB/B     rs2819423      -
AHNAK2    Q8IVF2     VAR_059571  p.Ala4085Val   LB/B     rs372676751    -
AHNAK2    Q8IVF2     VAR_059572  p.Asp4198Asn   LB/B     rs534942818    -
AHNAK2    Q8IVF2     VAR_059573  p.Leu4326Pro   LB/B     rs2819421      -
AHNAK2    Q8IVF2     VAR_059574  p.Pro4478Leu   LB/B     rs763391124    -
AHNAK2    Q8IVF2     VAR_061548  p.Met1298Ile   LB/B     rs2819440      -
AHNAK2    Q8IVF2     VAR_061549  p.Gly3654Glu   LB/B     rs28380382     -
AHNAK2    Q8IVF2     VAR_061550  p.Gly5139Glu   LB/B     rs61421370     -
AHR       P35869     VAR_009281  p.Arg554Lys    LB/B     rs2066853      -
AHR       P35869     VAR_009282  p.Val570Ile    LB/B     rs4986826      -
AHR       P35869     VAR_015516  p.Pro517Ser    LB/B     rs72552768     -
AHR       P35869     VAR_015517  p.Met786Val    LB/B     rs72552769     -
AHRR      A9YTQ3     VAR_043308  p.Leu114Pro    LB/B     rs35008248     -
AHRR      A9YTQ3     VAR_043309  p.Pro189Ala    LB/B     rs2292596      -
AHRR      A9YTQ3     VAR_043310  p.Gly373Val    LB/B     rs2303738      -
AHRR      A9YTQ3     VAR_043311  p.Asp627His    LB/B     rs34453673     -
AHSA2P    Q719I0     VAR_038256  p.Met248Thr    US       -              A breast cancer sample
AHSG      P02765     VAR_002388  p.Met248Thr    LB/B     rs4917         -
AHSG      P02765     VAR_002389  p.Ser256Thr    LB/B     rs4918         -
AHSG      P02765     VAR_012474  p.Asp276Asn    LB/B     rs70961709     -
AHSG      P02765     VAR_012475  p.Arg317Cys    LB/B     rs35457250     -
AHSG      P02765     VAR_055802  p.Val142Leu    LB/B     rs7633550      -
AHSG      P02765     VAR_080645  p.Arg317His    US       rs201849460    Alopecia-mental retardation syndrome 1 (APMR1) [MIM:203650]
AHSP      Q9NZD4     VAR_050650  p.Pro100Thr    LB/B     rs36018996     -
AICDA     Q9GZX7     VAR_013774  p.Arg24Trp     LP/P     rs104894324    Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_013775  p.Trp80Arg     LP/P     rs104894320    Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_013776  p.Leu106Pro    LP/P     rs104894321    Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_013777  p.Met139Val    LP/P     rs104894322    Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_013778  p.Phe151Ser    LP/P     rs104894327    Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_014091  p.Arg25Cys     LB/B     rs1404944797   -
AICDA     Q9GZX7     VAR_077563  p.Phe15Leu     LP/P     -              Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_077564  p.Tyr31His     LP/P     -              Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_077565  p.His56Tyr     US       -              Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_077566  p.Cys87Arg     US       rs762590894    Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_077567  p.His130Pro    LP/P     -              Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_077568  p.Arg174Ser    US       -              Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AIF1      P55008     VAR_048665  p.Gly14Arg     LB/B     rs2736182      -
AIFM1     O95831     VAR_067334  p.Gly308Glu    LP/P     -              Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816]
AIFM1     O95831     VAR_069468  p.Glu493Val    LP/P     rs281864468    Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia (CMTX4) [MIM:310490]
AIFM1     O95831     VAR_072791  p.Val243Leu    LP/P     -              Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816]
AIFM1     O95831     VAR_076211  p.Thr260Ala    LP/P     rs863225432    Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076212  p.Leu344Phe    US       rs184474885    Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076213  p.Gly360Arg    US       rs724160026    Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076214  p.Arg422Gln    LP/P     rs724160021    Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076215  p.Arg422Trp    LP/P     rs724160020    Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076216  p.Arg430Cys    US       rs1223488720   Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076217  p.Arg451Gln    LP/P     rs863225431    Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076218  p.Ala472Val    US       -              Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076219  p.Pro475Leu    US       rs724160022    Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076220  p.Val498Met    US       rs724160023    Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076221  p.Ile591Met    US       -              Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_083067  p.Gly262Ser    LP/P     -              -
AIFM1     O95831     VAR_083068  p.Gly338Glu    LP/P     -              Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816]
AIFM1     O95831     VAR_083739  p.Gln235His    LP/P     rs377527583    Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy (SEMDHL) [MIM:300232]
AIFM1     O95831     VAR_083740  p.Asp237Gly    LP/P     -              Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy (SEMDHL) [MIM:300232]
AIFM1     O95831     VAR_083741  p.Asp237Val    LP/P     rs1202786652   Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy (SEMDHL) [MIM:300232]
AIFM2     Q9BRQ8     VAR_050651  p.Met135Thr    LB/B     rs10999147     -
AIFM2     Q9BRQ8     VAR_050652  p.Asp288Asn    LB/B     rs2271694      -
AIFM3     Q96NN9     VAR_061553  p.Ser508Thr    LB/B     rs61356271     -
AIG1      Q9NVV5     VAR_057502  p.Gln151Glu    LB/B     rs1053193      -
AIM2      O14862     VAR_022022  p.Glu32Lys     LB/B     rs2276405      -
AIM2      O14862     VAR_043379  p.Cys304Tyr    LB/B     rs778047649    -
AIMP1     Q12904     VAR_025212  p.Pro79Ala     LB/B     rs1134648      -
AIMP1     Q12904     VAR_029156  p.Thr104Ala    LB/B     rs113844295    -
AIMP1     Q12904     VAR_050124  p.Thr117Ala    LB/B     rs2230255      -
AIMP2     Q13155     VAR_025521  p.Ala129Gly    LB/B     rs17855441     -
AIMP2     Q13155     VAR_050125  p.Leu166Ile    LB/B     rs34525431     -
AIMP2     Q13155     VAR_058392  p.Ile92Val     US       -              A lung cancer cell line
AIMP2     Q13155     VAR_058394  p.Gly209Ser    US       rs982080297    A lung cancer cell line
AIP       O00170     VAR_043908  p.Arg16His     LB/B     rs145047094    -
AIP       O00170     VAR_043909  p.Gln228Lys    LB/B     rs641081       -
AIP       O00170     VAR_043910  p.Lys241Glu    US       rs267606573    Pituitary adenoma 1, multiple types (PITA1) [MIM:102200]
AIP       O00170     VAR_043912  p.Arg271Trp    US       rs267606579    Pituitary adenoma 1, multiple types (PITA1) [MIM:102200]
AIP       O00170     VAR_043913  p.Arg304Gln    LP/P     rs104894190    Pituitary adenoma 1, multiple types (PITA1) [MIM:102200]
AIP       O00170     VAR_061545  p.Gln307Arg    LB/B     rs4930199      -
AIPL1     Q9NZN9     VAR_010139  p.Cys239Arg    LP/P     rs62637012     Leber congenital amaurosis 4 (LCA4) [MIM:604393]
AIPL1     Q9NZN9     VAR_010140  p.Asp90His     LB/B     rs12449580     -
AIPL1     Q9NZN9     VAR_050626  p.Val33Ala     LB/B     rs16955859     -
AIPL1     Q9NZN9     VAR_050627  p.Tyr134Phe    LB/B     rs16955851     -
AIPL1     Q9NZN9     VAR_067165  p.Arg270His    LP/P     -              Leber congenital amaurosis 4 (LCA4) [MIM:604393]
AIPL1     Q9NZN9     VAR_067166  p.Arg302Leu    LB/B     rs62637015     -
AIRE      O43918     VAR_005004  p.Leu28Pro     LP/P     rs179363878    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_005005  p.Lys83Glu     LP/P     rs121434255    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_005006  p.Ser278Arg    LB/B     rs1800520      -
AIRE      O43918     VAR_013713  p.Arg15Leu     LP/P     rs179363876    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013714  p.Thr16Met     LP/P     rs179363877    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013715  p.Leu29Pro     LP/P     rs179363879    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013716  p.Trp78Arg     LP/P     rs179363880    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013717  p.Val80Leu     LP/P     rs179363881    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013718  p.Tyr85Cys     LP/P     rs179363882    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013719  p.Tyr90Cys     LP/P     rs179363883    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013720  p.Leu93Arg     LP/P     rs179363884    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013721  p.Val301Met    LP/P     rs150634562    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013722  p.Gly305Ser    US       -              -
AIRE      O43918     VAR_013723  p.Cys311Tyr    LP/P     rs386833674    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013724  p.Pro326Gln    LP/P     rs179363885    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_014422  p.Gly228Trp    LP/P     rs121434257    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_026480  p.Arg15Cys     LP/P     rs179363875    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_026481  p.Ala21Val     LP/P     rs179363886    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_026483  p.Phe77Ser     LP/P     rs179363887    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_026484  p.Pro252Leu    LB/B     rs34397615     Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_026485  p.Pro326Leu    LP/P     rs179363885    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_026486  p.Pro539Leu    LP/P     rs179363889    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_076940  p.Glu298Lys    LB/B     rs763636007    -
AIRE      O43918     VAR_076941  p.Cys299Trp    LB/B     rs751066946    -
AIRE      O43918     VAR_076942  p.Cys302Tyr    US       -              -
AIRE      O43918     VAR_076943  p.Arg303Gln    LB/B     rs139808903    -
AIRE      O43918     VAR_076944  p.Arg303Trp    LB/B     rs778929451    -
AIRE      O43918     VAR_076945  p.Gly306Arg    LB/B     rs754932526    -
AIRE      O43918     VAR_076946  p.Ile309Met    LB/B     rs74162062     -
AIRE      O43918     VAR_076947  p.Arg316Gln    LB/B     rs202027254    -
AIRE      O43918     VAR_076948  p.Arg316Trp    US       rs139874934    -
AIRE      O43918     VAR_076949  p.His319Pro    LB/B     rs776951380    -
AIRE      O43918     VAR_076950  p.Arg328Gln    LB/B     rs775921321    -
AIRE      O43918     VAR_076951  p.Arg328Trp    LB/B     rs74162063     -
AIRE      O43918     VAR_076952  p.Ser332Arg    LB/B     rs766901260    -
AIRE      O43918     VAR_076953  p.Val484Ala    US       rs769470638    -
AJAP1     Q9UKB5     VAR_031821  p.Gly263Arg    LB/B     rs242056       -
AK1       P00568     VAR_004021  p.Arg128Trp    LP/P     rs104894101    Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK1       P00568     VAR_034046  p.Glu123Gln    LB/B     rs8192462      -
AK1       P00568     VAR_055337  p.Gly40Arg     LP/P     rs137853204    Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK1       P00568     VAR_055338  p.Gly64Arg     LP/P     rs137853205    Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK1       P00568     VAR_055340  p.Tyr164Cys    LP/P     rs137853203    Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK2       P54819     VAR_050032  p.Ala209Thr    LB/B     rs12116440     -
AK2       P54819     VAR_054630  p.Arg103Trp    LP/P     rs267606648    Reticular dysgenesis (RDYS) [MIM:267500]
AK2       P54819     VAR_054631  p.Asp165Gly    LP/P     rs267606643    Reticular dysgenesis (RDYS) [MIM:267500]
AK5       Q9Y6K8     VAR_059435  p.Arg465Gln    LB/B     rs2803140      -
AK7       Q96M32     VAR_017059  p.Arg102Gln    LB/B     rs2275554      -
AK7       Q96M32     VAR_057950  p.Asn389Lys    LB/B     rs2369679      -
AK7       Q96M32     VAR_080917  p.Leu673Pro    LP/P     rs116298211    Spermatogenic failure 27 (SPGF27) [MIM:617965]
AK8       Q96MA6     VAR_030873  p.Ile5Thr      LB/B     rs2231400      -
AK8       Q96MA6     VAR_030874  p.Asp130Gly    LB/B     rs17407084     -
AKAP1     Q92667     VAR_024512  p.Val60Met     LB/B     rs2230770      -
AKAP1     Q92667     VAR_049676  p.Ala18Val     LB/B     rs17761023     -
AKAP1     Q92667     VAR_049677  p.Cys102Tyr    LB/B     rs2230771      -
AKAP1     Q92667     VAR_049678  p.Arg124Cys    LB/B     rs17833723     -
AKAP10    O43572     VAR_024607  p.Arg249His    LB/B     rs2108978      -
AKAP10    O43572     VAR_024608  p.Ile646Val    LB/B     rs203462       -
AKAP11    Q9UKA4     VAR_020131  p.Ser721Cys    LB/B     rs2236364      -
AKAP11    Q9UKA4     VAR_048207  p.His1070Arg   LB/B     rs17063163     -
AKAP11    Q9UKA4     VAR_048208  p.Leu1410Phe   LB/B     rs17063167     -
AKAP12    Q02952     VAR_035115  p.Lys117Glu    LB/B     rs10872670     -
AKAP12    Q02952     VAR_035116  p.Lys216Gln    LB/B     rs3734799      -
AKAP12    Q02952     VAR_035117  p.Glu920Gly    LB/B     rs13212161     -
AKAP12    Q02952     VAR_035118  p.Val1096Ile   LB/B     rs3734797      -
AKAP12    Q02952     VAR_035119  p.Arg1296Leu   LB/B     rs9478198      -
AKAP12    Q02952     VAR_035120  p.Glu1355Lys   LB/B     rs12201388     -
AKAP12    Q02952     VAR_035121  p.Glu1600Asp   LB/B     rs3823310      -
AKAP12    Q02952     VAR_035122  p.Glu1689Asp   LB/B     rs3734795      -
AKAP12    Q02952     VAR_035780  p.Glu240Lys    US       rs552053449    A colorectal cancer sample
AKAP12    Q02952     VAR_056731  p.Ala987Ser    LB/B     rs1042069      -
AKAP13    Q12802     VAR_030925  p.Met452Thr    LB/B     rs2061821      -
AKAP13    Q12802     VAR_030926  p.Trp494Arg    LB/B     rs2061822      -
AKAP13    Q12802     VAR_030927  p.Arg574Cys    LB/B     rs2061824      -
AKAP13    Q12802     VAR_030928  p.Gly624Val    LB/B     rs745191       -
AKAP13    Q12802     VAR_030929  p.Glu689Lys    LB/B     rs7177107      -
AKAP13    Q12802     VAR_030930  p.Val845Ala    LB/B     rs4075256      -
AKAP13    Q12802     VAR_030931  p.Val897Met    LB/B     rs4075254      -
AKAP13    Q12802     VAR_030932  p.Pro1062Ala   LB/B     rs4843074      -
AKAP13    Q12802     VAR_030933  p.Asp1086Asn   LB/B     rs4843075      -
AKAP13    Q12802     VAR_030934  p.Met1216Thr   LB/B     rs7162168      -
AKAP13    Q12802     VAR_030935  p.Gly2457Ser   LB/B     rs2241268      -
AKAP13    Q12802     VAR_030936  p.Ala2801Thr   LB/B     rs2614668      -
AKAP13    Q12802     VAR_051986  p.Lys526Gln    LB/B     rs34434221     -
AKAP13    Q12802     VAR_051987  p.Ser1525Gly   LB/B     rs35079107     -
AKAP17A   Q02040     VAR_055353  p.Pro194Ser    LB/B     rs17852504     -
AKAP2     Q9Y2D5     VAR_024248  p.Leu561Ser    LB/B     rs914358       -
AKAP3     O75969     VAR_036428  p.Arg831Cys    US       rs143517596    A colorectal cancer sample
AKAP3     O75969     VAR_055488  p.Gly118Glu    LB/B     rs2072355      -
AKAP3     O75969     VAR_055489  p.Ile500Thr    LB/B     rs12366671     -
AKAP3     O75969     VAR_055490  p.Ile661Thr    LB/B     rs1990313      -
AKAP3     O75969     VAR_055491  p.Ser700Phe    LB/B     rs2041291      -
AKAP3     O75969     VAR_055492  p.Ser725Leu    LB/B     rs2072357      -
AKAP3     O75969     VAR_059112  p.Ser700Pro    LB/B     rs2041290      -
AKAP3     O75969     VAR_060730  p.Thr464Ser    LB/B     rs11063266     -
AKAP3     O75969     VAR_061000  p.Glu525Lys    LB/B     rs1990312      -
AKAP4     Q5JQC9     VAR_027266  p.Ala673Gly    LB/B     rs12012704     -
AKAP4     Q5JQC9     VAR_048206  p.His233Arg    LB/B     rs17174078     -
AKAP5     P24588     VAR_056732  p.Pro100Leu    LB/B     rs2230491      -
AKAP5     P24588     VAR_056733  p.Glu314Lys    LB/B     rs34433837     -
AKAP5     P24588     VAR_060735  p.Thr203Ile    LB/B     rs1256149      -
AKAP6     Q13023     VAR_028171  p.Ala337Val    LB/B     rs3742926      -
AKAP6     Q13023     VAR_028172  p.Asn408Ser    LB/B     rs17099240     -
AKAP6     Q13023     VAR_028173  p.Ala1492Val   LB/B     rs11845640     -
AKAP6     Q13023     VAR_028174  p.Asn2035Asp   LB/B     rs1051695      -
AKAP6     Q13023     VAR_028175  p.Phe2171Tyr   LB/B     rs4647899      -
AKAP6     Q13023     VAR_028176  p.Asp2209His   LB/B     rs4402458      -
AKAP6     Q13023     VAR_035781  p.Lys910Met    US       -              A breast cancer sample
AKAP6     Q13023     VAR_035782  p.Met1192Ile   US       -              A breast cancer sample
AKAP6     Q13023     VAR_035783  p.Glu1702Gln   US       -              A breast cancer sample
AKAP6     Q13023     VAR_035784  p.Pro1839Thr   US       rs745389246    A colorectal cancer sample
AKAP6     Q13023     VAR_050653  p.Asn558Asp    LB/B     rs35210906     -
AKAP6     Q13023     VAR_050654  p.Glu892Lys    LB/B     rs34572259     -
AKAP6     Q13023     VAR_050655  p.Thr1516Ala   LB/B     rs17099587     -
AKAP6     Q13023     VAR_050656  p.Val1522Ile   LB/B     rs34711402     -
AKAP6     Q13023     VAR_050657  p.Glu2267Asp   LB/B     rs35977369     -
AKAP7     Q9P0M2     VAR_024246  p.Glu26Lys     LB/B     rs7771473      -
AKAP7     Q9P0M2     VAR_024247  p.Ser215Asn    LB/B     rs1190788      -
AKAP8     O43823     VAR_036534  p.Gln664His    US       -              A breast cancer sample
AKAP8L    Q9ULX6     VAR_068822  p.Gln458His    LB/B     rs2058322      -
AKAP9     Q99996     VAR_024249  p.Met463Ile    LB/B     rs6964587      -
AKAP9     Q99996     VAR_030162  p.Asn2792Ser   LB/B     rs6960867      -
AKAP9     Q99996     VAR_030163  p.Pro2979Ser   LB/B     rs1063242      -
AKAP9     Q99996     VAR_035785  p.Met2409Ile   US       -              A colorectal cancer sample
AKAP9     Q99996     VAR_035786  p.Glu3297Gln   US       rs756245027    A breast cancer sample
AKAP9     Q99996     VAR_043489  p.Ser1570Leu   LP/P     rs121908566    Long QT syndrome 11 (LQT11) [MIM:611820]
AKAP9     Q99996     VAR_043490  p.Lys2484Arg   LB/B     rs35759833     -
AKAP9     Q99996     VAR_043491  p.Gln3444Arg   LB/B     rs34956633     -
AKAP9     Q99996     VAR_043492  p.Met3614Val   LB/B     rs34327395     -
AKIP1     Q9NQ31     VAR_021565  p.Arg23Lys     LB/B     rs1133833      -
AKIP1     Q9NQ31     VAR_050688  p.Ile132Thr    LB/B     rs35131475     -
AKNA      Q7Z591     VAR_032586  p.Pro624Leu    LB/B     rs3748176      -
AKNA      Q7Z591     VAR_032587  p.Gln1097Arg   LB/B     rs1265891      -
AKNA      Q7Z591     VAR_032588  p.Arg1119Gln   LB/B     rs3748178      -
AKNA      Q7Z591     VAR_032589  p.Ser1303Pro   LB/B     rs2250242      -
AKNA      Q7Z591     VAR_032590  p.Tyr1327Cys   LB/B     rs2787344      -
AKNAD1    Q5T1N1     VAR_044198  p.Ser61Asn     LB/B     rs1277207      -
AKNAD1    Q5T1N1     VAR_044199  p.Ala104Val    LB/B     rs17621411     -
AKNAD1    Q5T1N1     VAR_044200  p.Glu167Gly    LB/B     rs17852793     -
AKNAD1    Q5T1N1     VAR_044201  p.His255Tyr    LB/B     rs9440631      -
AKNAD1    Q5T1N1     VAR_044202  p.Leu352Val    LB/B     rs11580913     -
AKNAD1    Q5T1N1     VAR_044203  p.Asn616Lys    LB/B     rs7551421      -
AKNAD1    Q5T1N1     VAR_044204  p.Cys654Tyr    LB/B     rs7522157      -
AKNAD1    Q5T1N1     VAR_061565  p.Gly582Val    LB/B     rs12060255     -
AKR1A1    P14550     VAR_048212  p.Asn52Ser     LB/B     rs2229540      -
AKR1A1    P14550     VAR_058909  p.Glu55Asp     LB/B     rs6690497      -
AKR1B1    P15121     VAR_014743  p.Ile15Phe     LB/B     rs5054         -
AKR1B1    P15121     VAR_014744  p.His42Leu     LB/B     rs5056         -
AKR1B1    P15121     VAR_014745  p.Leu73Val     LB/B     rs5057         -
AKR1B1    P15121     VAR_014746  p.Gly204Ser    LB/B     rs5061         -
AKR1B1    P15121     VAR_014747  p.Thr288Ile    LB/B     rs5062         -
AKR1B1    P15121     VAR_048213  p.Lys90Glu     LB/B     rs2229542      -
AKR1B10   O60218     VAR_013287  p.Asn313Asp    LB/B     rs4728329      -
AKR1B10   O60218     VAR_020077  p.Pro87Ser     LB/B     rs2303312      -
AKR1B10   O60218     VAR_020078  p.Met286Thr    LB/B     rs3735042      -
AKR1C1    Q04828     VAR_048214  p.Arg170His    LB/B     rs139588200    -
AKR1C1    Q04828     VAR_048215  p.Gln172Leu    LB/B     rs760575583    -
AKR1C2    P52895     VAR_014748  p.Leu172Gln    LB/B     rs11474        -
AKR1C2    P52895     VAR_048216  p.Phe46Tyr     LB/B     rs2854482      -
AKR1C2    P52895     VAR_066632  p.Ile79Val     LP/P     rs387906750    46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C2    P52895     VAR_066633  p.His90Gln     LP/P     rs797044460    46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C2    P52895     VAR_066634  p.His222Gln    LP/P     rs13222        46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C2    P52895     VAR_066635  p.Asn300Thr    LP/P     rs387906751    46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C3    P42330     VAR_013288  p.His5Gln      LB/B     rs12529        -
AKR1C3    P42330     VAR_013289  p.Met175Ile    LB/B     rs1131132      -
AKR1C3    P42330     VAR_032767  p.Arg66Gln     LB/B     rs35961894     -
AKR1C3    P42330     VAR_032768  p.Arg170Cys    LB/B     rs35575889     -
AKR1C3    P42330     VAR_032769  p.Pro180Ser    LB/B     rs34186955     -
AKR1C3    P42330     VAR_061001  p.Glu77Gly     LB/B     rs11551177     -
AKR1C4    P17516     VAR_013290  p.Ser145Cys    LB/B     rs3829125      -
AKR1C4    P17516     VAR_013291  p.Leu311Val    LB/B     rs17134592     -
AKR1C4    P17516     VAR_028240  p.Gly135Glu    LB/B     rs11253043     -
AKR1C4    P17516     VAR_028241  p.Cys170Tyr    LB/B     rs17851824     -
AKR1C4    P17516     VAR_028242  p.Gln250Arg    LB/B     rs4880718      -
AKR1C8P   Q5T2L2     VAR_032355  p.Arg50His     LB/B     rs7097295      -
AKR1D1    P51857     VAR_033007  p.Leu106Phe    LP/P     rs121918343    Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1D1    P51857     VAR_033008  p.Pro198Leu    LP/P     rs121918342    Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1D1    P51857     VAR_044430  p.Pro133Arg    LP/P     rs267606649    Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1D1    P51857     VAR_044431  p.Arg261Cys    LP/P     rs267606650    Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1D1    P51857     VAR_081756  p.Gly223Glu    LP/P     rs1228918719   Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1E2    Q96JD6     VAR_032356  p.Cys52Gly     LB/B     rs35429729     -
AKR1E2    Q96JD6     VAR_032357  p.Lys86Arg     LB/B     rs17133693     -
AKR7A2    O43488     VAR_017413  p.Ala142Thr    LB/B     rs1043657      -
AKR7A2    O43488     VAR_017414  p.Gln157His    LB/B     rs859208       -
AKR7A2    O43488     VAR_017415  p.Cys214Tyr    LB/B     rs2235794      -
AKR7A2    O43488     VAR_048209  p.Val135Met    LB/B     rs6670759      -
AKR7A2    O43488     VAR_048210  p.Gly198Ser    LB/B     rs2231200      -
AKR7A2    O43488     VAR_048211  p.Ser255Asn    LB/B     rs2231203      -
AKR7A2    O43488     VAR_060222  p.Glu180Lys    LB/B     rs859210       -
AKR7A3    O95154     VAR_017416  p.Val138Met    LB/B     rs2231198      -
AKR7A3    O95154     VAR_017417  p.Asn215Asp    LB/B     rs1738023      -
AKR7A3    O95154     VAR_017418  p.Thr323Ala    LB/B     rs1738025      -
AKR7L     Q8NHP1     VAR_046190  p.Ala255Thr    LB/B     rs2235795      -
AKR7L     Q8NHP1     VAR_046191  p.Phe322Val    LB/B     rs2982534      -
AKT1      P31749     VAR_051617  p.Val167Ala    LB/B     rs11555433     -
AKT1      P31749     VAR_055422  p.Glu17Lys     LP/P     rs121434592    Breast cancer (BC) [MIM:114480]
AKT1      P31749     VAR_055422  p.Glu17Lys     LP/P     rs121434592    Proteus syndrome (PROTEUSS) [MIM:176920]
AKT1      P31749     VAR_069791  p.Arg25Cys     LP/P     rs397514644    Cowden syndrome 6 (CWS6) [MIM:615109]
AKT1      P31749     VAR_069792  p.Thr435Pro    LP/P     rs397514645    Cowden syndrome 6 (CWS6) [MIM:615109]
AKT1S1    Q96B36     VAR_028239  p.Ala47Pro     LB/B     rs17850191     -
AKT2      P31751     VAR_040356  p.Ile188Val    LB/B     rs55859611     -
AKT2      P31751     VAR_040357  p.Arg208Lys    LB/B     rs35817154     -
AKT2      P31751     VAR_067309  p.Glu17Lys     LP/P     rs387906659    Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) [MIM:240900]
AKT2      P31751     VAR_067310  p.Arg274His    LP/P     rs121434593    Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
AKT3      Q9Y243     VAR_040358  p.Gly171Arg    US       rs1402272180   A glioblastoma multiforme sample
AKT3      Q9Y243     VAR_065830  p.Glu17Lys     US       rs397514606    Melanoma
AKT3      Q9Y243     VAR_065830  p.Glu17Lys     LP/P     rs397514606    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937]
AKT3      Q9Y243     VAR_069260  p.Asn229Ser    LP/P     rs397514605    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937]
AKT3      Q9Y243     VAR_069261  p.Arg465Trp    LP/P     rs587776935    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937]
ALAD      P13716     VAR_003633  p.Lys59Asn     LB/B     rs1800435      -
ALAD      P13716     VAR_003634  p.Gly133Arg    LP/P     rs121912980    Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD      P13716     VAR_003635  p.Arg240Trp    LP/P     rs121912982    Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD      P13716     VAR_003636  p.Ala274Thr    LP/P     rs121912983    Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD      P13716     VAR_003637  p.Val275Met    LP/P     rs121912981    Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD      P13716     VAR_020973  p.Phe12Leu     LB/B     rs121912984    -
ALAD      P13716     VAR_020974  p.Val153Met    LP/P     rs1554740221   Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAS2     P22557     VAR_000562  p.Thr388Ser    LP/P     rs137852300    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_000563  p.Arg411Cys    LP/P     rs137852305    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_000564  p.Ile476Asn    LP/P     rs137852299    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_012334  p.Tyr199His    LP/P     rs137852310    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_012335  p.Arg204Gln    LP/P     rs1338391423   Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_012336  p.Arg448Gln    LP/P     -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_012337  p.Arg452Cys    LP/P     rs137852311    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_018604  p.Asp159Tyr    LP/P     rs137852308    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_018605  p.Arg560His    LP/P     rs892041887    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066232  p.Lys156Glu    LP/P     -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066233  p.Arg170His    LP/P     -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066234  p.Arg218His    LP/P     rs185504937    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066235  p.Glu242Lys    LP/P     -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066236  p.Asp263Asn    LP/P     -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066237  p.Pro339Leu    LP/P     -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066238  p.Arg375Cys    LP/P     -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066239  p.Arg411His    LP/P     -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066240  p.Arg452Gly    LP/P     -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066241  p.Arg452His    LP/P     rs863223904    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066242  p.Pro520Leu    LB/B     rs201062903    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066243  p.Arg572His    LP/P     -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066244  p.Tyr586Phe    LB/B     rs139596860    -
ALAS2     P22557     VAR_072328  p.Phe165Leu    LP/P     rs137852301    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_072329  p.Arg170Cys    LP/P     -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_072330  p.Val301Ala    LP/P     -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_072331  p.Arg517Gly    LP/P     -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALB       P02768     VAR_000499  p.Arg23Cys     LB/B     rs80008208     -
ALB       P02768     VAR_000500  p.Arg23His     LB/B     rs72552709     -
ALB       P02768     VAR_000501  p.Arg24Leu     LB/B     rs74821926     -
ALB       P02768     VAR_000502  p.Arg24Pro     LB/B     rs74821926     -
ALB       P02768     VAR_000503  p.Arg24Gln     LB/B     rs74821926     -
ALB       P02768     VAR_000504  p.Asp25Val     LB/B     rs75353611     -
ALB       P02768     VAR_000505  p.His27Gln     LB/B     rs76285851     -
ALB       P02768     VAR_000506  p.His27Tyr     LB/B     rs141733599    -
ALB       P02768     VAR_000507  p.Glu84Lys     LB/B     rs77050410     -
ALB       P02768     VAR_000508  p.Asp87Asn     LB/B     rs78574148     -
ALB       P02768     VAR_000509  p.Glu106Lys    LB/B     rs80296402     -
ALB       P02768     VAR_000510  p.Arg138Gly    LB/B     rs77238412     -
ALB       P02768     VAR_000511  p.Glu143Lys    LB/B     rs75522063     -
ALB       P02768     VAR_000512  p.His152Arg    LB/B     rs80095457     -
ALB       P02768     VAR_000513  p.Cys201Phe    LB/B     rs77656691     -
ALB       P02768     VAR_000514  p.Arg242His    LP/P     rs75002628     Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999]
ALB       P02768     VAR_000515  p.Lys249Gln    LB/B     rs79804069     -
ALB       P02768     VAR_000516  p.Lys264Glu    LB/B     rs79377490     -
ALB       P02768     VAR_000517  p.Gln292Arg    LB/B     rs80002911     -
ALB       P02768     VAR_000518  p.Asp293Gly    LB/B     rs79744198     -
ALB       P02768     VAR_000519  p.Lys300Asn    LB/B     rs74718349     -
ALB       P02768     VAR_000520  p.Lys337Asn    LB/B     rs72552710     -
ALB       P02768     VAR_000521  p.Asn342Lys    LB/B     rs77544362     -
ALB       P02768     VAR_000522  p.Ala344Thr    LB/B     rs78953271     -
ALB       P02768     VAR_000523  p.Glu345Lys    LB/B     rs72552711     -
ALB       P02768     VAR_000524  p.Glu357Lys    LB/B     rs77354753     -
ALB       P02768     VAR_000525  p.Glu378Lys    LB/B     rs76593094     -
ALB       P02768     VAR_000526  p.Glu382Lys    LB/B     rs75791663     -
ALB       P02768     VAR_000527  p.Asp389His    LB/B     rs77187142     -
ALB       P02768     VAR_000528  p.Asp389Val    LB/B     rs78538497     -
ALB       P02768     VAR_000529  p.Lys396Glu    LB/B     rs78166690     -
ALB       P02768     VAR_000530  p.Asp399Asn    LB/B     rs77514449     -
ALB       P02768     VAR_000531  p.Glu400Lys    LB/B     rs79047363     -
ALB       P02768     VAR_000532  p.Glu400Gln    LB/B     rs79047363     -
ALB       P02768     VAR_000533  p.Glu406Lys    LB/B     rs76483862     -
ALB       P02768     VAR_000534  p.Glu503Lys    LB/B     rs80259813     -
ALB       P02768     VAR_000535  p.Asp518Asn    LB/B     rs75920790     -
ALB       P02768     VAR_000536  p.Glu525Lys    LB/B     rs75523493     -
ALB       P02768     VAR_000537  p.Glu529Lys    LB/B     rs74826639     -
ALB       P02768     VAR_000538  p.Lys560Glu    LB/B     rs77645174     -
ALB       P02768     VAR_000539  p.Lys565Glu    LB/B     rs80345158     -
ALB       P02768     VAR_000540  p.Asp574Gly    LB/B     rs79738788     -
ALB       P02768     VAR_000541  p.Asp574Ala    LB/B     rs79738788     -
ALB       P02768     VAR_000542  p.Asp587Asn    LB/B     rs76587671     -
ALB       P02768     VAR_000543  p.Glu589Lys    LB/B     rs75709682     -
ALB       P02768     VAR_000544  p.Glu594Lys    LB/B     rs79228041     -
ALB       P02768     VAR_000545  p.Lys597Glu    LB/B     rs80106970     -
ALB       P02768     VAR_000546  p.Lys598Asn    LB/B     rs75738598     -
ALB       P02768     VAR_010657  p.Phe73Tyr     LB/B     -              -
ALB       P02768     VAR_013011  p.Leu90Pro     LP/P     rs77892378     Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999]
ALB       P02768     VAR_013012  p.Val146Glu    LB/B     rs77752336     -
ALB       P02768     VAR_013013  p.Arg242Pro    LP/P     rs75002628     Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999]
ALB       P02768     VAR_013014  p.Asp338Gly    LB/B     rs76242087     -
ALB       P02768     VAR_013015  p.Asp338Val    LB/B     rs76242087     -
ALB       P02768     VAR_013016  p.Lys383Asn    LB/B     rs75069738     -
ALB       P02768     VAR_013017  p.Arg434Cys    LB/B     rs78575701     -
ALB       P02768     VAR_013018  p.Val557Met    LB/B     rs78284052     -
ALB       P02768     VAR_013019  p.Lys584Glu    LB/B     rs76671808     -
ALB       P02768     VAR_014290  p.Glu121Gly    LB/B     -              -
ALB       P02768     VAR_014291  p.Ala215Thr    LB/B     rs3210154      -
ALB       P02768     VAR_014292  p.Ala215Val    LB/B     rs3204504      -
ALB       P02768     VAR_014293  p.Gln220Leu    LB/B     rs3210163      -
ALB       P02768     VAR_014294  p.Glu420Lys    LB/B     -              -
ALB       P02768     VAR_014295  p.Lys490Glu    LB/B     rs1063469      -
ALCAM     Q13740     VAR_003907  p.Asn258Ser    LB/B     rs1044240      -
ALCAM     Q13740     VAR_003908  p.Thr301Met    LB/B     rs1044243      -
ALCAM     Q13740     VAR_029514  p.Gly229Asp    LB/B     rs10933819     -
ALCAM     Q13740     VAR_029515  p.Leu315Met    LB/B     rs12629872     -
ALCAM     Q13740     VAR_029516  p.Val352Met    LB/B     rs2291375      -
ALCAM     Q13740     VAR_049856  p.Met367Ile    LB/B     rs34926152     -
ALDH16A1  Q8IZ83     VAR_037638  p.Glu110Lys    LB/B     rs3745312      -
ALDH16A1  Q8IZ83     VAR_037639  p.Leu227Val    LB/B     rs1320303      -
ALDH18A1  P54886     VAR_038482  p.Arg84Gln     LP/P     rs121434582    Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
ALDH18A1  P54886     VAR_051792  p.Thr299Ile    LB/B     rs2275272      Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
ALDH18A1  P54886     VAR_051793  p.Ser372Tyr    LB/B     rs3765571      -
ALDH18A1  P54886     VAR_058006  p.His784Tyr    LP/P     rs121434583    Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
ALDH18A1  P54886     VAR_075884  p.Gly93Arg     LP/P     -              Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
ALDH18A1  P54886     VAR_075885  p.Val120Ala    LP/P     rs863224945    Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
ALDH18A1  P54886     VAR_075886  p.Arg128His    LP/P     rs768323248    Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
ALDH18A1  P54886     VAR_075887  p.Arg138Leu    LP/P     rs863225045    Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603]
ALDH18A1  P54886     VAR_075888  p.Arg138Gln    LP/P     rs863225045    Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603]
ALDH18A1  P54886     VAR_075889  p.Arg138Trp    LP/P     rs863225044    Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603]
ALDH18A1  P54886     VAR_075890  p.Val243Leu    LP/P     rs864321669    Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
ALDH18A1  P54886     VAR_075891  p.Arg252Gln    LP/P     rs864321670    Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
ALDH18A1  P54886     VAR_075892  p.Leu637Pro    LP/P     rs869320690    Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
ALDH18A1  P54886     VAR_075893  p.Ser652Phe    LP/P     -              Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
ALDH18A1  P54886     VAR_075894  p.Arg665Leu    LP/P     rs766264810    Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
ALDH18A1  P54886     VAR_075895  p.Asp715His    LP/P     rs752669339    Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
ALDH18A1  P54886     VAR_075896  p.Tyr782Cys    LP/P     rs774047299    Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
ALDH1A1   P00352     VAR_017778  p.Ile177Phe    LB/B     rs8187929      -
ALDH1A1   P00352     VAR_048901  p.Asn121Ser    LB/B     rs1049981      -
ALDH1A1   P00352     VAR_048902  p.Gly125Arg    LB/B     rs11554423     -
ALDH1A2   O94788     VAR_025439  p.Glu50Gly     LB/B     rs34266719     -
ALDH1A2   O94788     VAR_025440  p.Ala110Val    LB/B     rs35365164     -
ALDH1A2   O94788     VAR_025441  p.Val348Ile    LB/B     rs4646626      -
ALDH1A2   O94788     VAR_025442  p.Glu436Lys    LB/B     rs34744827     -
ALDH1A3   P47895     VAR_019706  p.Met386Val    LB/B     rs3803430      -
ALDH1A3   P47895     VAR_069322  p.Arg89Cys     LP/P     rs397514652    Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_069323  p.Ala145Val    LP/P     rs754619607    Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_069324  p.Ile369Phe    LP/P     -              Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_069325  p.Ala493Pro    LP/P     rs397514653    Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_072332  p.Val71Met     LP/P     rs386834230    Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_072333  p.Cys174Tyr    LP/P     -              Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_072334  p.Pro355Arg    LP/P     -              Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_072335  p.Gly382Arg    LP/P     -              Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_072336  p.Glu411Lys    LP/P     -              Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_072337  p.Asn466Lys    LP/P     -              Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1B1   P30837     VAR_002257  p.Ala86Val     LB/B     rs2228093      -
ALDH1B1   P30837     VAR_002258  p.Leu107Arg    LB/B     rs2073478      -
ALDH1B1   P30837     VAR_029891  p.Thr202Ile    LB/B     rs4646773      -
ALDH1B1   P30837     VAR_029892  p.Val253Met    LB/B     rs4878199      -
ALDH1L1   O75891     VAR_036101  p.Ala511Val    US       rs768309358    A colorectal cancer sample
ALDH1L1   O75891     VAR_052290  p.Leu254Pro    LB/B     rs3796191      -
ALDH1L1   O75891     VAR_052291  p.Val330Phe    LB/B     rs2886059      -
ALDH1L1   O75891     VAR_052292  p.Glu429Ala    LB/B     rs9282691      -
ALDH1L1   O75891     VAR_052293  p.Ala436Thr    LB/B     rs9282692      -
ALDH1L1   O75891     VAR_052295  p.Ser448Asn    LB/B     rs9282697      -
ALDH1L1   O75891     VAR_052296  p.Ser481Gly    LB/B     rs2276724      -
ALDH1L1   O75891     VAR_052297  p.Asp793Gly    LB/B     rs1127717      -
ALDH1L1   O75891     VAR_052298  p.Glu803Lys    LB/B     rs9282689      -
ALDH1L1   O75891     VAR_052299  p.Ile812Val    LB/B     rs4646750      -
ALDH2     P05091     VAR_002248  p.Glu504Lys    LB/B     rs671          -
ALDH2     P05091     VAR_011302  p.Glu496Lys    LB/B     rs769724893    -
ALDH2     P05091     VAR_011869  p.Glu337Val    LB/B     rs1062136      -
ALDH3A1   P30838     VAR_011303  p.Pro329Ala    LB/B     rs2228100      -
ALDH3A1   P30838     VAR_018981  p.Ser134Ala    LB/B     rs887241       -
ALDH3A1   P30838     VAR_018982  p.Gly309Glu    LB/B     rs3744692      -
ALDH3A2   P51648     VAR_002249  p.Leu106Arg    LP/P     rs72547558     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002250  p.Cys214Tyr    LP/P     rs72547564     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002251  p.Cys226Trp    LP/P     rs72547565     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002252  p.Asp245Asn    LP/P     rs72547568     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002254  p.Pro315Ser    LP/P     rs72547571     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002255  p.Ser365Leu    LP/P     rs72547573     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002256  p.Gly412Arg    LP/P     rs778115541    Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017510  p.Ile45Phe     LP/P     -              Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017511  p.Val64Asp     LP/P     rs72547556     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017512  p.Pro114Leu    LP/P     rs72547559     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017513  p.Pro121Leu    LP/P     rs72547560     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017514  p.Thr184Met    LP/P     rs72547562     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017515  p.Thr184Arg    LP/P     -              Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017516  p.Gly185Ala    LP/P     rs72547563     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017517  p.Arg228Cys    LP/P     rs72547566     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017518  p.Cys237Tyr    LP/P     rs72547567     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017519  p.Lys266Asn    LP/P     rs72547569     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648