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humsavar.txt

----------------------------------------------------------------------------
        UniProt - Swiss-Prot Protein Knowledgebase
        SIB Swiss Institute of Bioinformatics; Geneva, Switzerland
        European Bioinformatics Institute (EBI); Hinxton, United Kingdom
        Protein Information Resource (PIR); Washington DC, USA
----------------------------------------------------------------------------

Description: Human polymorphisms and disease mutations: index
Name:        humsavar.txt
Release:     2019_08 of 18-Sep-2019

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

 - The column 'Type of variant' contains the labels 'Disease', 'Polymorphism',
  'Unclassified'. These labels are based on the variant annotation in the  
   corresponding UniProtKB/Swiss-Prot entries, curated from literature reports.
   They may change over time and must not be considered as a definitive 
   statement about the pathogenic role of a variant.

       Disease
            Variants reported to be implicated in disease.
            
       Polymorphism
            Variants not reported to be implicated in disease.
            
       Unclassified
            Variants with uncertain implication in disease. Evidence against 
            or in favor of a pathogenic role is limited, or literature reports 
            are conflicting.

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

Statistics for single amino acid variants:

             Disease variants: 30755
             Polymorphisms: 40089
             Unclassified variants: 8110
             Total: 78954 


Main      Swiss-Prot             AA             Type of
gene name AC         FTId        change         variant       dbSNP          Disease name
_________ __________ ___________ ______________ _____________ ______________ _____________________
A1BG      P04217     VAR_018369  p.His52Arg     Polymorphism  rs893184       -
A1BG      P04217     VAR_018370  p.His395Arg    Polymorphism  rs2241788      -
A1CF      Q9NQ94     VAR_052201  p.Val555Met    Polymorphism  rs9073         -
A1CF      Q9NQ94     VAR_059821  p.Ala558Ser    Polymorphism  rs11817448     -
A2M       P01023     VAR_000012  p.Arg704His    Polymorphism  rs1800434      -
A2M       P01023     VAR_000013  p.Cys972Tyr    Polymorphism  rs1800433      -
A2M       P01023     VAR_000014  p.Ile1000Val   Polymorphism  rs669          -
A2M       P01023     VAR_026820  p.Asn639Asp    Polymorphism  rs226405       -
A2M       P01023     VAR_026821  p.Leu815Gln    Polymorphism  rs3180392      -
A2ML1     A8K2U0     VAR_055463  p.Gly207Arg    Polymorphism  rs11047499     -
A2ML1     A8K2U0     VAR_055464  p.Cys970Tyr    Polymorphism  rs1558526      -
A2ML1     A8K2U0     VAR_055465  p.Thr1131Met   Polymorphism  rs7959680      -
A2ML1     A8K2U0     VAR_055466  p.Thr1412Ala   Polymorphism  rs7315591      -
A2ML1     A8K2U0     VAR_059083  p.Asp850Glu    Polymorphism  rs1860926      -
A2ML1     A8K2U0     VAR_059084  p.His1229Arg   Polymorphism  rs10219561     -
A2ML1     A8K2U0     VAR_071854  p.Arg1122Trp   Polymorphism  rs1860967      -
A2ML1     A8K2U0     VAR_071855  p.Met1257Val   Polymorphism  rs7308811      -
A2ML1     A8K2U0     VAR_071856  p.Thr1312Met   Polymorphism  rs201083574    -
A2ML1     A8K2U0     VAR_081010  p.Val296Ala    Polymorphism  rs192888493    -
A2ML1     A8K2U0     VAR_081011  p.Pro356Arg    Polymorphism  rs863224953    -
A2ML1     A8K2U0     VAR_081014  p.Arg1001Trp   Polymorphism  rs201725377    -
A2ML1     A8K2U0     VAR_081015  p.Ala1431Val   Polymorphism  rs863224955    -
A4GALT    Q9NPC4     VAR_014296  p.Met37Val     Polymorphism  rs11541159     -
A4GALT    Q9NPC4     VAR_014297  p.Met183Lys    Polymorphism  rs74315453     -
A4GALT    Q9NPC4     VAR_017508  p.Gly187Asp    Polymorphism  rs28940572     -
A4GALT    Q9NPC4     VAR_017509  p.Pro251Leu    Polymorphism  rs28940571     -
A4GALT    Q9NPC4     VAR_022320  p.Gln163Arg    Polymorphism  rs28915383     -
A4GALT    Q9NPC4     VAR_080910  p.Gln211Glu    Polymorphism  rs397514502    -
A4GNT     Q9UNA3     VAR_022096  p.Ala218Asp    Polymorphism  rs2246945      -
AAAS      Q9NRG9     VAR_012804  p.Gln15Lys     Disease       rs121918549    Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS      Q9NRG9     VAR_012805  p.His160Arg    Disease       rs1297831120   Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS      Q9NRG9     VAR_012806  p.Ser263Pro    Disease       rs121918550    Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS      Q9NRG9     VAR_037060  p.Lys108Met    Polymorphism  rs13330        -
AACS      Q86V21     VAR_038303  p.Ile118Val    Polymorphism  rs11549081     -
AACS      Q86V21     VAR_060997  p.Ala470Val    Polymorphism  rs59883951     -
AADAC     P22760     VAR_014798  p.Val281Ile    Polymorphism  rs1803155      -
AADACL2   Q6P093     VAR_038140  p.Ala186Ser    Polymorphism  rs1972977      -
AADACL2   Q6P093     VAR_038141  p.Leu343Ile    Polymorphism  rs1052562      -
AADACL3   Q5VUY0     VAR_060665  p.Phe252Cys    Polymorphism  rs7513079      -
AADACL3   Q5VUY0     VAR_060666  p.Pro104Ser    Polymorphism  rs3010877      -
AADACL3   Q5VUY0     VAR_060667  p.Leu128Met    Polymorphism  rs3000859      -
AADACL3   Q5VUY0     VAR_060668  p.Arg186Trp    Polymorphism  rs17038445     -
AADACL3   Q5VUY0     VAR_060670  p.Met307Ile    Polymorphism  rs3000931      -
AADACL3   Q5VUY0     VAR_060671  p.Pro337Leu    Polymorphism  rs11121969     -
AADAT     Q8N5Z0     VAR_061005  p.Val243Ile    Polymorphism  rs56350236     -
AAGAB     Q6PD74     VAR_021533  p.Ile132Leu    Polymorphism  rs7173826      -
AAK1      Q2M2I8     VAR_031129  p.Lys509Gln    Polymorphism  rs6715776      -
AAK1      Q2M2I8     VAR_040348  p.Ile59Val     Polymorphism  rs34535244     -
AAK1      Q2M2I8     VAR_040349  p.Gln533His    Polymorphism  rs1263928487   -
AAK1      Q2M2I8     VAR_040350  p.Val603Ala    Polymorphism  rs56038532     -
AAK1      Q2M2I8     VAR_040351  p.Thr694Met    Polymorphism  rs55889248     -
AAK1      Q2M2I8     VAR_040352  p.Pro725Thr    Polymorphism  rs35285785     -
AAK1      Q2M2I8     VAR_040353  p.Pro771Arg    Polymorphism  rs34422616     -
AAK1      Q2M2I8     VAR_040354  p.Gly835Asp    Polymorphism  -              -
AAMDC     Q9H7C9     VAR_052696  p.Val92Met     Polymorphism  rs2186564      -
AAMP      Q13685     VAR_037061  p.Ile250Val    Polymorphism  rs2305835      -
AANAT     Q16613     VAR_048168  p.Arg15Cys     Polymorphism  rs34470791     -
AANAT     Q16613     VAR_055086  p.Ala129Thr    Unclassified  rs28936679     -
AAR2      Q9Y312     VAR_048127  p.Pro124Thr    Polymorphism  rs6121183      -
AARD      Q4LEZ3     VAR_043570  p.Gly96Arg     Polymorphism  rs16889283     -
AARS      P49588     VAR_028204  p.Gly275Asp    Polymorphism  rs11537667     -
AARS      P49588     VAR_063527  p.Arg329His    Disease       rs267606621    Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]
AARS      P49588     VAR_067084  p.Asn71Tyr     Disease       rs387906792    Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]
AARS      P49588     VAR_073293  p.Thr608Met    Unclassified  -              -
AARS      P49588     VAR_073719  p.Lys81Thr     Disease       rs786205157    Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339]
AARS      P49588     VAR_073720  p.Arg751Gly    Disease       rs143370729    Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339]
AARS      P49588     VAR_079703  p.Gly913Asp    Disease       rs369774476    Epileptic encephalopathy, early infantile, 29 (EIEE29) [MIM:616339]
AARS2     Q5JTZ9     VAR_027609  p.Ile339Val    Polymorphism  rs324136       -
AARS2     Q5JTZ9     VAR_027610  p.Ala484Asp    Polymorphism  rs495294       -
AARS2     Q5JTZ9     VAR_057357  p.Met850Val    Polymorphism  rs35783144     -
AARS2     Q5JTZ9     VAR_065956  p.Leu155Arg    Disease       rs387907061    Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]
AARS2     Q5JTZ9     VAR_065957  p.Arg592Trp    Disease       rs138119149    Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]
AARS2     Q5JTZ9     VAR_071837  p.Phe50Cys     Disease       rs587777590    Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
AARS2     Q5JTZ9     VAR_071838  p.Ala77Val     Unclassified  rs375949891    -
AARS2     Q5JTZ9     VAR_071840  p.Arg199Cys    Unclassified  rs200105202    -
AARS2     Q5JTZ9     VAR_071841  p.Glu405Lys    Disease       rs587777592    Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
AARS2     Q5JTZ9     VAR_071842  p.Val730Met    Unclassified  rs35623954     -
AARS2     Q5JTZ9     VAR_071843  p.Gly965Arg    Disease       rs543267101    Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
AASDH     Q4L235     VAR_038309  p.Lys368Arg    Polymorphism  rs3796543      -
AASDH     Q4L235     VAR_038310  p.Ala747Val    Polymorphism  rs3796544      -
AASDH     Q4L235     VAR_038311  p.Val774Ile    Polymorphism  rs3796545      -
AASDH     Q4L235     VAR_038312  p.Thr865Ala    Polymorphism  rs12498340     -
AASDH     Q4L235     VAR_038313  p.Tyr1030Asp   Polymorphism  rs8340         -
AASDH     Q4L235     VAR_061008  p.Ile61Val     Polymorphism  rs34543011     -
AASDH     Q4L235     VAR_061009  p.Pro93Arg     Polymorphism  rs34228795     -
AATK      Q6ZMQ8     VAR_027267  p.Thr118Met    Polymorphism  rs8082016      -
AATK      Q6ZMQ8     VAR_032679  p.Ser81Phe     Unclassified  -              An ovarian mucinous carcinoma sample
AATK      Q6ZMQ8     VAR_032680  p.Leu97Val     Unclassified  -              A lung adenocarcinoma sample
AATK      Q6ZMQ8     VAR_032681  p.Met104Val    Unclassified  rs1337040042   An ovarian mucinous carcinoma sample
AATK      Q6ZMQ8     VAR_032682  p.Gly703Cys    Polymorphism  rs7503604      -
AATK      Q6ZMQ8     VAR_032683  p.Ser815Arg    Polymorphism  rs56032966     -
AATK      Q6ZMQ8     VAR_032684  p.Ser923Leu    Polymorphism  rs56313973     -
AATK      Q6ZMQ8     VAR_032685  p.Glu1160Lys   Polymorphism  rs55793641     -
AATK      Q6ZMQ8     VAR_032686  p.Pro1192Ser   Polymorphism  rs55856613     -
AATK      Q6ZMQ8     VAR_032687  p.Phe1266Ser   Polymorphism  rs36000545     -
AATK      Q6ZMQ8     VAR_032688  p.Ala1332Thr   Polymorphism  rs55713566     -
ABAT      P80404     VAR_008883  p.Arg220Lys    Disease       rs121434578    GABA transaminase deficiency (GABATD) [MIM:613163]
ABAT      P80404     VAR_018979  p.Gln56Arg     Polymorphism  rs1731017      -
ABCA1     O95477     VAR_009145  p.Val399Ala    Polymorphism  rs9282543      -
ABCA1     O95477     VAR_009146  p.Arg587Trp    Disease       rs2853574      High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009147  p.Trp590Ser    Disease       rs137854496    High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009148  p.Gln597Arg    Disease       rs2853578      High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009150  p.Asn935Ser    Disease       rs28937313     High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009151  p.Ala937Val    Disease       rs137854495    High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009152  p.Asp1289Asn   Disease       rs137854500    High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009153  p.Cys1477Arg   Disease       rs137854494    High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009154  p.Ile1517Arg   Disease       -              High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009155  p.Asn1800His   Disease       rs146292819    High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_012618  p.Arg219Lys    Polymorphism  rs2230806      -
ABCA1     O95477     VAR_012619  p.Arg230Cys    Polymorphism  rs9282541      -
ABCA1     O95477     VAR_012620  p.Ala255Thr    Disease       rs758100110    High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_012621  p.Val771Met    Polymorphism  rs2066718      -
ABCA1     O95477     VAR_012622  p.Thr774Pro    Polymorphism  rs35819696     -
ABCA1     O95477     VAR_012623  p.Lys776Asn    Polymorphism  rs138880920    -
ABCA1     O95477     VAR_012624  p.Val825Ile    Polymorphism  rs2066715      -
ABCA1     O95477     VAR_012625  p.Ile883Met    Polymorphism  rs2066714      -
ABCA1     O95477     VAR_012626  p.Thr929Ile    Disease       -              High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_012627  p.Ala1046Asp   Disease       rs141021096    High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_012628  p.Met1091Thr   Disease       -              High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1     O95477     VAR_012629  p.Glu1172Asp   Polymorphism  rs33918808     -
ABCA1     O95477     VAR_012630  p.Ser1506Leu   Disease       rs137854497    High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_012631  p.Lys1587Arg   Polymorphism  rs2230808      -
ABCA1     O95477     VAR_012632  p.Asn1611Asp   Disease       -              -
ABCA1     O95477     VAR_012633  p.Ser1731Cys   Polymorphism  rs760507032    -
ABCA1     O95477     VAR_012635  p.Arg2081Trp   Disease       rs137854501    High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_012636  p.Pro2150Leu   Disease       rs369098049    High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1     O95477     VAR_012637  p.Leu2168Pro   Polymorphism  rs2853577      -
ABCA1     O95477     VAR_012638  p.Ile1555Thr   Polymorphism  rs1997618      -
ABCA1     O95477     VAR_012639  p.Leu1648Pro   Polymorphism  rs1883024      -
ABCA1     O95477     VAR_017016  p.Ser1181Phe   Polymorphism  rs76881554     -
ABCA1     O95477     VAR_017529  p.Pro85Leu     Disease       rs145183203    High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1     O95477     VAR_017530  p.Asp1099Tyr   Disease       rs28933692     High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1     O95477     VAR_035724  p.Glu210Asp    Unclassified  -              A colorectal cancer sample
ABCA1     O95477     VAR_035725  p.Asp917Tyr    Unclassified  -              A colorectal cancer sample
ABCA1     O95477     VAR_035726  p.Ala1407Thr   Unclassified  rs189206655    A colorectal cancer sample
ABCA1     O95477     VAR_035727  p.Ala2109Thr   Unclassified  -              A colorectal cancer sample
ABCA1     O95477     VAR_037968  p.Asn935His    Disease       rs28937314     High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_037969  p.Val1054Ile   Polymorphism  rs13306072     -
ABCA1     O95477     VAR_037970  p.Arg1680Trp   Disease       rs137854498    High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_037971  p.Phe2009Ser   Disease       rs137854499    High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1     O95477     VAR_062481  p.Pro248Ala    Polymorphism  rs142625938    -
ABCA1     O95477     VAR_062482  p.Glu284Lys    Disease       -              High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062483  p.Ser364Cys    Polymorphism  rs775035559    -
ABCA1     O95477     VAR_062484  p.Lys401Gln    Polymorphism  rs138487227    -
ABCA1     O95477     VAR_062485  p.Tyr482Cys    Disease       -              High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062486  p.Arg496Trp    Polymorphism  rs147675550    -
ABCA1     O95477     VAR_062487  p.Trp590Leu    Disease       rs137854496    High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062488  p.Arg638Gln    Polymorphism  rs374190304    -
ABCA1     O95477     VAR_062489  p.Thr774Ser    Polymorphism  -              -
ABCA1     O95477     VAR_062490  p.Glu815Gly    Polymorphism  rs145582736    -
ABCA1     O95477     VAR_062491  p.Trp840Arg    Disease       rs1322998567   High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062492  p.Pro1065Ser   Polymorphism  -              -
ABCA1     O95477     VAR_062493  p.Arg1068Cys   Disease       rs745593394    High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062494  p.Gly1216Val   Polymorphism  rs562403512    -
ABCA1     O95477     VAR_062495  p.Arg1341Thr   Polymorphism  rs147743782    -
ABCA1     O95477     VAR_062496  p.Ser1376Gly   Polymorphism  rs145689805    -
ABCA1     O95477     VAR_062497  p.Leu1379Phe   Disease       -              High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062498  p.Arg1615Gln   Polymorphism  rs1251839800   -
ABCA1     O95477     VAR_062499  p.Ala1670Thr   Polymorphism  rs1203589782   -
ABCA1     O95477     VAR_062500  p.Arg1680Gln   Polymorphism  rs150125857    -
ABCA1     O95477     VAR_062501  p.Val1704Asp   Disease       -              High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062502  p.Arg1851Gln   Disease       rs1055285452   High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062503  p.Arg1897Trp   Unclassified  rs760768125    High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1     O95477     VAR_062504  p.Arg1901Ser   Disease       -              High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062505  p.Arg1925Gln   Polymorphism  rs142688906    -
ABCA1     O95477     VAR_062506  p.Phe2163Ser   Unclassified  -              -
ABCA1     O95477     VAR_062507  p.Gln2196His   Disease       rs564764153    High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062508  p.Asp2243Glu   Polymorphism  rs34879708     -
ABCA1     O95477     VAR_062509  p.Val2244Ile   Polymorphism  rs144588452    -
ABCA10    Q8WWZ4     VAR_028384  p.Pro203Ser    Polymorphism  rs9909216      -
ABCA10    Q8WWZ4     VAR_028385  p.Ile287Val    Polymorphism  rs11657804     -
ABCA10    Q8WWZ4     VAR_028386  p.Met916Thr    Polymorphism  rs4968849      -
ABCA10    Q8WWZ4     VAR_055469  p.Arg1322Trp   Polymorphism  rs10491178     -
ABCA12    Q86UK0     VAR_019597  p.Ser459Thr    Polymorphism  rs7560008      -
ABCA12    Q86UK0     VAR_019598  p.Asn1380Ser   Disease       rs28940269     Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_019599  p.Gly1381Glu   Disease       rs28940268     Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_019600  p.Arg1514His   Disease       rs28940270     Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_019601  p.Glu1539Lys   Disease       rs28940271     Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_019602  p.Gly1651Ser   Disease       rs28940568     Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_027444  p.Glu550Gly    Polymorphism  rs16853149     -
ABCA12    Q86UK0     VAR_027445  p.Ser777Thr    Polymorphism  rs7560008      -
ABCA12    Q86UK0     VAR_027446  p.Gly1251Asp   Polymorphism  rs13414448     -
ABCA12    Q86UK0     VAR_027447  p.Arg1546Cys   Polymorphism  rs13401480     -
ABCA12    Q86UK0     VAR_027448  p.Glu2064Lys   Polymorphism  rs1213011      -
ABCA12    Q86UK0     VAR_027449  p.Asp2365Asn   Polymorphism  rs726070       -
ABCA12    Q86UK0     VAR_055473  p.Trp199Cys    Polymorphism  rs16853238     -
ABCA12    Q86UK0     VAR_055474  p.Asn237His    Polymorphism  rs11890512     -
ABCA12    Q86UK0     VAR_055475  p.Gln274Arg    Polymorphism  rs11890468     -
ABCA12    Q86UK0     VAR_055476  p.Arg287Gly    Polymorphism  rs11891778     -
ABCA12    Q86UK0     VAR_062663  p.Ala476Val    Unclassified  rs370640837    A pancreatic ductal adenocarcinoma sample
ABCA12    Q86UK0     VAR_067075  p.Thr345Pro    Disease       rs1295935868   Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067076  p.Ser387Asn    Disease       rs746315995    Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]
ABCA12    Q86UK0     VAR_067077  p.Gly1136Asp   Disease       -              Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067078  p.Gly1179Arg   Disease       rs267606622    Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]
ABCA12    Q86UK0     VAR_067079  p.Trp1235Ser   Disease       -              Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067080  p.Ile1494Thr   Disease       rs1263698595   Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067081  p.Gly1559Val   Disease       rs1457513156   Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067082  p.Pro1798Leu   Disease       rs181314573    Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067083  p.Thr1980Lys   Disease       -              Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA13    Q86UQ4     VAR_055470  p.Thr1508Ile   Polymorphism  rs6583483      -
ABCA13    Q86UQ4     VAR_059087  p.Pro506Leu    Polymorphism  rs1880738      -
ABCA13    Q86UQ4     VAR_059088  p.Arg555His    Polymorphism  rs2361519      -
ABCA13    Q86UQ4     VAR_059089  p.Ile767Ser    Polymorphism  rs17712293     -
ABCA13    Q86UQ4     VAR_059090  p.Glu799Lys    Polymorphism  rs17547816     -
ABCA13    Q86UQ4     VAR_059091  p.Ile1434Val   Polymorphism  rs17132195     -
ABCA13    Q86UQ4     VAR_059092  p.Phe1540Leu   Polymorphism  rs17712299     -
ABCA13    Q86UQ4     VAR_059093  p.Ile1889Lys   Polymorphism  rs17132197     -
ABCA13    Q86UQ4     VAR_059094  p.Asn2033Asp   Polymorphism  rs17661364     -
ABCA13    Q86UQ4     VAR_059095  p.Ser2154Leu   Polymorphism  rs17092911     -
ABCA13    Q86UQ4     VAR_059096  p.Ala2178Glu   Polymorphism  rs1880736      -
ABCA13    Q86UQ4     VAR_059097  p.Leu2212Ser   Polymorphism  rs17132198     -
ABCA13    Q86UQ4     VAR_059098  p.Lys2436Arg   Polymorphism  rs17132206     -
ABCA13    Q86UQ4     VAR_059099  p.Ser2537Ala   Polymorphism  rs17132208     -
ABCA13    Q86UQ4     VAR_059100  p.Arg2674Trp   Polymorphism  rs2222648      -
ABCA13    Q86UQ4     VAR_059101  p.Ala3142Val   Polymorphism  rs3931814      -
ABCA13    Q86UQ4     VAR_059102  p.Tyr3851Phe   Polymorphism  rs17132289     -
ABCA13    Q86UQ4     VAR_059103  p.Asn4277Asp   Polymorphism  rs4917152      -
ABCA13    Q86UQ4     VAR_059104  p.Gln4302Arg   Polymorphism  rs4917153      -
ABCA13    Q86UQ4     VAR_059105  p.Pro4335Ala   Polymorphism  rs17132370     -
ABCA2     Q9BZC7     VAR_044526  p.Pro583His    Polymorphism  rs908828       -
ABCA2     Q9BZC7     VAR_044527  p.Phe674Val    Polymorphism  rs2090625      -
ABCA3     Q99758     VAR_023497  p.Leu101Pro    Disease       rs121909182    Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_023498  p.Asn568Asp    Disease       rs121909184    Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_023499  p.Leu1553Pro   Disease       rs121909183    Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_023500  p.Gln1591Pro   Disease       rs28936691     Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_025061  p.Asn140His    Polymorphism  rs45447801     -
ABCA3     Q99758     VAR_025062  p.Pro766Ser    Polymorphism  rs45592239     -
ABCA3     Q99758     VAR_035728  p.Leu290Met    Unclassified  -              A breast cancer sample
ABCA3     Q99758     VAR_035729  p.Glu801Asp    Unclassified  -              A breast cancer sample
ABCA3     Q99758     VAR_035730  p.His1069Gln   Unclassified  -              A breast cancer sample
ABCA4     P78363     VAR_008398  p.Arg18Trp     Disease       rs121909205    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008399  p.Arg24His     Disease       rs62645958     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008400  p.Cys54Tyr     Disease       rs150774447    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008401  p.Gly65Glu     Disease       rs62654395     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008401  p.Gly65Glu     Disease       rs62654395     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008402  p.Cys75Gly     Disease       rs61748526     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008403  p.Asn96Asp     Disease       rs61748529     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008404  p.Asn96His     Disease       rs61748529     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008405  p.Ala192Thr    Disease       rs61748535     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008406  p.Arg212Cys    Disease       rs61750200     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008406  p.Arg212Cys    Disease       rs61750200     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008407  p.Asp249Gly    Disease       rs62646865     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008408  p.Thr300Asn    Disease       rs61748544     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008409  p.Ser336Cys    Disease       rs61748547     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008410  p.Tyr340Asp    Disease       rs61748548     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008411  p.Ala407Val    Disease       rs61751264     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008411  p.Ala407Val    Disease       rs61751264     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008412  p.Ser445Arg    Disease       rs61748552     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008413  p.Glu471Lys    Disease       rs1800548      Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008413  p.Glu471Lys    Disease       rs1800548      Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008414  p.Asp523Glu    Disease       rs62646868     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008415  p.Leu541Pro    Disease       rs61751392     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008415  p.Leu541Pro    Disease       rs61751392     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008415  p.Leu541Pro    Disease       rs61751392     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008416  p.Arg572Pro    Disease       rs61748559     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008417  p.Arg572Gln    Disease       rs61748559     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008418  p.Arg602Trp    Disease       rs61749409     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008419  p.Phe608Ile    Disease       rs61752398     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008420  p.Val643Gly    Polymorphism  rs61754024     -
ABCA4     P78363     VAR_008421  p.Asp645Asn    Disease       rs61749418     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008422  p.Gly818Glu    Disease       rs61750202     Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008422  p.Gly818Glu    Disease       rs61750202     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008423  p.Trp821Arg    Disease       rs61749433     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008424  p.Gly851Asp    Disease       rs61749436     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008425  p.Gly863Ala    Disease       rs76157638     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008425  p.Gly863Ala    Disease       rs76157638     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008425  p.Gly863Ala    Disease       rs76157638     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008426  p.Thr901Ala    Polymorphism  rs61754030     -
ABCA4     P78363     VAR_008427  p.Val931Met    Disease       rs58331765     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008428  p.Arg943Gln    Polymorphism  rs1801581      -
ABCA4     P78363     VAR_008429  p.Gln957Arg    Disease       rs61749448     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008430  p.Asn965Ser    Disease       rs201471607    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008431  p.Gly978Cys    Disease       rs61749452     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008432  p.Glu1036Lys   Disease       rs61750061     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008433  p.Ala1038Val   Disease       rs61751374     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008433  p.Ala1038Val   Disease       rs61751374     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008433  p.Ala1038Val   Disease       rs61751374     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008434  p.Ser1071Leu   Disease       rs61750065     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008435  p.Val1072Ala   Disease       -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008436  p.Glu1087Lys   Disease       rs61751398     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008437  p.Thr1112Asn   Disease       rs61750122     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008438  p.Glu1122Lys   Disease       rs61751399     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008438  p.Glu1122Lys   Disease       rs61751399     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008439  p.Arg1129Leu   Disease       rs1801269      Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008439  p.Arg1129Leu   Disease       rs1801269      Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008440  p.Leu1201Arg   Disease       rs61750126     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008441  p.Asp1204Asn   Disease       rs61750127     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008442  p.Pro1314Thr   Polymorphism  rs61754041     -
ABCA4     P78363     VAR_008443  p.Pro1380Leu   Disease       rs61750130     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008444  p.His1406Tyr   Disease       rs61750133     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008445  p.Trp1408Leu   Disease       rs61750134     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008446  p.Trp1408Arg   Disease       rs61750135     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008447  p.Thr1428Met   Disease       rs1800549      Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008448  p.Val1429Ala   Disease       rs61752432     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008449  p.Val1433Ile   Disease       rs56357060     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008450  p.Gly1439Asp   Disease       rs61750140     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008451  p.Phe1440Ser   Disease       rs61750141     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008452  p.Pro1486Leu   Disease       rs61750145     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008453  p.Cys1488Arg   Disease       rs61750146     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008453  p.Cys1488Arg   Disease       rs61750146     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008454  p.Cys1490Tyr   Disease       rs61751402     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008454  p.Cys1490Tyr   Disease       rs61751402     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008455  p.Arg1517Ser   Disease       rs1800550      Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008456  p.Thr1526Met   Disease       rs61750152     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008457  p.Asp1532Asn   Disease       rs62642574     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008458  p.Ile1562Thr   Disease       rs1762111      Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008458  p.Ile1562Thr   Disease       rs1762111      Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008458  p.Ile1562Thr   Disease       rs1762111      Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008458  p.Ile1562Thr   Disease       rs1762111      Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008459  p.Gly1578Arg   Disease       rs1800551      Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008460  p.Leu1631Pro   Disease       rs61750158     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008461  p.Arg1640Trp   Disease       rs61751404     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008461  p.Arg1640Trp   Disease       rs61751404     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008462  p.Tyr1652Asp   Disease       rs61750560     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008463  p.Ser1696Asn   Disease       rs61750564     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008464  p.Gln1703Lys   Disease       -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008465  p.Leu1729Pro   Disease       rs61750567     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008466  p.Ala1794Asp   Disease       rs61751406     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008467  p.Arg1820Pro   Disease       rs62646875     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008468  p.His1838Tyr   Disease       rs62642562     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008469  p.Arg1843Trp   Disease       rs62642576     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008470  p.Asn1868Ile   Polymorphism  rs1801466      -
ABCA4     P78363     VAR_008471  p.Gly1886Glu   Disease       rs62642579     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008473  p.Arg1898His   Disease       rs1800552      Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008473  p.Arg1898His   Disease       rs1800552      Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008474  p.Pro1948Leu   Polymorphism  rs56142141     -
ABCA4     P78363     VAR_008475  p.Gly1961Glu   Disease       rs1800553      Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008475  p.Gly1961Glu   Disease       rs1800553      Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008476  p.Leu1970Phe   Disease       rs28938473     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008476  p.Leu1970Phe   Disease       rs28938473     Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008477  p.Gly1977Ser   Disease       rs61750639     Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008477  p.Gly1977Ser   Disease       rs61750639     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008478  p.Leu2027Phe   Disease       rs61751408     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008478  p.Leu2027Phe   Disease       rs61751408     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008480  p.Arg2030Gln   Disease       rs61750641     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008480  p.Arg2030Gln   Disease       rs61750641     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008481  p.Val2050Leu   Disease       rs41292677     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008482  p.Arg2077Trp   Disease       rs61750645     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008483  p.Glu2096Lys   Disease       rs61750646     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008484  p.Arg2106Cys   Disease       rs61750648     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008484  p.Arg2106Cys   Disease       rs61750648     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008485  p.Arg2107His   Disease       rs62642564     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008486  p.His2128Arg   Disease       rs61750651     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008487  p.Glu2131Lys   Disease       rs61750652     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008488  p.Arg2139Trp   Disease       rs61750653     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008489  p.Cys2150Tyr   Disease       rs61751384     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008489  p.Cys2150Tyr   Disease       rs61751384     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008490  p.Lys2160Arg   Disease       rs281865405    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008491  p.Asp2177Asn   Polymorphism  rs1800555      -
ABCA4     P78363     VAR_008492  p.Ala60Val     Disease       rs55732384     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008493  p.Asp846His    Polymorphism  rs61754027     -
ABCA4     P78363     VAR_008494  p.Ile1846Thr   Polymorphism  rs61750575     -
ABCA4     P78363     VAR_008495  p.Arg2038Trp   Disease       rs61750643     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_009157  p.Ser2255Ile   Polymorphism  rs6666652      -
ABCA4     P78363     VAR_012493  p.Leu11Pro     Disease       rs62645946     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012495  p.Asn58Lys     Disease       rs61748524     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012496  p.Ala60Glu     Disease       -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012497  p.Ala60Thr     Disease       rs61751411     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012498  p.Pro68Leu     Disease       rs62654397     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012499  p.Pro68Arg     Disease       rs62654397     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012500  p.Gly72Arg     Disease       rs61751412     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012501  p.Val77Glu     Disease       rs61748527     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012502  p.Ser100Pro    Disease       rs61748530     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012503  p.Arg152Gln    Polymorphism  rs62646862     -
ABCA4     P78363     VAR_012504  p.Ile156Val    Disease       rs62646863     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012505  p.Gln190His    Disease       rs281865397    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012506  p.Ser206Arg    Disease       rs61748536     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012507  p.Arg212His    Polymorphism  rs6657239      -
ABCA4     P78363     VAR_012508  p.Arg220Cys    Disease       rs61748538     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012509  p.Cys230Ser    Disease       rs1057518767   Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012510  p.Leu244Pro    Disease       rs62646864     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012511  p.Asn247Ser    Disease       rs62645950     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012512  p.Pro309Arg    Disease       rs61748545     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012513  p.Glu328Val    Disease       rs61751419     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012514  p.Arg333Trp    Disease       rs61748546     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012515  p.Trp339Gly    Disease       rs61751420     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012516  p.Asn380Lys    Disease       rs61748549     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012517  p.His423Arg    Polymorphism  rs3112831      -
ABCA4     P78363     VAR_012518  p.Phe525Cys    Disease       -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012519  p.Arg537Cys    Disease       rs61748556     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012520  p.Ala549Pro    Disease       rs61748557     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012521  p.Gly550Arg    Disease       rs61748558     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012522  p.Val552Ile    Polymorphism  rs145525174    -
ABCA4     P78363     VAR_012523  p.Arg602Gln    Disease       rs61749410     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012524  p.Gly607Arg    Disease       rs61749412     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012525  p.Gly607Trp    Disease       rs61749412     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012526  p.Gln635Lys    Disease       rs61749414     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012527  p.Gln636His    Disease       rs61752400     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012528  p.Val643Met    Disease       rs61749417     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012529  p.Arg653Cys    Disease       rs61749420     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012530  p.Leu686Ser    Disease       rs61752402     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012531  p.Thr716Met    Disease       rs61749426     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012532  p.Cys764Tyr    Disease       rs61749428     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012533  p.Ser765Arg    Disease       rs61752404     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012534  p.Ser765Asn    Disease       rs61749429     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012535  p.Val767Asp    Disease       rs61751395     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012536  p.Leu797Pro    Disease       rs61749432     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012537  p.Ile824Thr    Disease       -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012538  p.Val849Ala    Disease       rs61749435     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012539  p.Ala854Thr    Disease       rs61749437     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012541  p.Phe873Leu    Disease       rs62642570     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012542  p.Thr897Ile    Disease       rs61749440     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012543  p.His914Arg    Polymorphism  -              -
ABCA4     P78363     VAR_012544  p.Val935Ala    Disease       rs61749444     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012545  p.Arg943Trp    Disease       rs61749446     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012545  p.Arg943Trp    Disease       rs61749446     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012546  p.Thr959Ile    Disease       rs61752409     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012547  p.Thr971Asn    Disease       rs61749450     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012548  p.Thr972Asn    Unclassified  rs61749451     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012549  p.Ser974Pro    Disease       rs281865400    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012550  p.Val989Ala    Disease       rs61749454     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012551  p.Gly991Arg    Disease       rs61749455     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012552  p.Leu1014Arg   Disease       rs61749456     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012553  p.Thr1019Ala   Disease       rs61749457     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012554  p.Thr1019Met   Disease       rs201855602    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012555  p.Glu1022Lys   Disease       rs61749459     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012556  p.Lys1031Glu   Disease       rs61750060     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012557  p.Arg1055Trp   Disease       rs61752412     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012558  p.Ser1063Pro   Disease       rs61752413     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012559  p.Glu1087Asp   Disease       rs61752416     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012560  p.Gly1091Glu   Disease       rs61752417     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012561  p.Arg1097Cys   Disease       -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012562  p.Arg1108Cys   Disease       rs61750120     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012562  p.Arg1108Cys   Disease       rs61750120     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012563  p.Arg1108His   Disease       rs61750121     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012564  p.Arg1108Leu   Disease       rs61750121     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012565  p.Arg1129Cys   Disease       rs779426136    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012566  p.Lys1148Thr   Polymorphism  -              -
ABCA4     P78363     VAR_012567  p.Leu1250Pro   Disease       rs61750128     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012568  p.Thr1253Met   Unclassified  rs61752424     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012569  p.Arg1300Gln   Disease       rs61750129     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012570  p.Leu1388Pro   Disease       rs61750131     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012571  p.Glu1399Lys   Disease       rs62642573     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012572  p.Leu1430Pro   Disease       -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012573  p.Phe1440Val   Disease       rs61752433     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012574  p.Arg1443His   Disease       rs61750142     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012575  p.Cys1488Phe   Disease       rs61750147     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012576  p.Cys1488Tyr   Disease       rs61750147     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012577  p.Gly1508Cys   Disease       -              Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012578  p.Gln1513Arg   Disease       rs281865402    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012579  p.Leu1525Pro   Disease       rs61750151     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012580  p.Thr1537Met   Disease       rs62642575     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012581  p.Ala1598Asp   Disease       rs61750155     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_012582  p.Ala1637Thr   Polymorphism  rs61754056     -
ABCA4     P78363     VAR_012583  p.Arg1640Gln   Disease       rs61751403     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_012583  p.Arg1640Gln   Disease       rs61751403     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012583  p.Arg1640Gln   Disease       rs61751403     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012585  p.Ser1689Pro   Disease       rs61753020     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012586  p.Val1693Ile   Disease       rs61750563     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012587  p.Arg1705Leu   Disease       rs61753021     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012588  p.Met1733Thr   Disease       rs765563320    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012589  p.Ser1736Pro   Disease       rs61750568     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012590  p.Gly1748Arg   Disease       rs61753025     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012592  p.Leu1763Pro   Disease       rs61753028     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012593  p.Pro1776Leu   Disease       rs281865404    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012594  p.Pro1780Ala   Disease       rs121909207    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012595  p.Asn1799Asp   Disease       rs61750574     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012596  p.Asn1805Asp   Disease       rs61753029     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012597  p.Glu1817Asp   Polymorphism  -              -
ABCA4     P78363     VAR_012598  p.Val1884Glu   Disease       rs62642578     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012599  p.Glu1885Lys   Disease       rs62642563     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012600  p.Val1896Asp   Disease       rs61750636     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012601  p.Val1921Met   Polymorphism  rs61753032     -
ABCA4     P78363     VAR_012602  p.Leu1940Pro   Disease       rs61753033     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012602  p.Leu1940Pro   Disease       rs61753033     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012603  p.Leu1971Arg   Disease       rs61753034     Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012604  p.Gly1975Arg   Disease       rs61753036     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012605  p.Leu2035Pro   Disease       rs61750642     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012606  p.Gly2059Ala   Polymorphism  -              -
ABCA4     P78363     VAR_012607  p.Leu2060Arg   Disease       rs61753039     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_012608  p.Tyr2071Phe   Disease       -              Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012609  p.Arg2077Gly   Disease       rs61750645     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012610  p.Arg2107Cys   Disease       rs2297669      Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012611  p.Gly2146Asp   Disease       rs61753044     Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_012612  p.Arg2149Leu   Disease       rs61750655     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012613  p.Cys2150Arg   Disease       rs61750656     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012614  p.Ala2216Val   Polymorphism  rs886044763    -
ABCA4     P78363     VAR_012615  p.Leu2229Pro   Disease       rs61750659     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012616  p.Leu2241Val   Disease       rs61748521     Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012617  p.Arg2263Leu   Disease       rs281865407    Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_014703  p.Ser752Ile    Polymorphism  rs1801369      -
ABCA4     P78363     VAR_035736  p.Thr224Met    Unclassified  rs373540612    A breast cancer sample
ABCA4     P78363     VAR_067427  p.Ala762Glu    Disease       -              Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_067428  p.Trp1724Cys   Disease       -              Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_067429  p.Ile2047Asn   Disease       -              Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_067430  p.Cys2137Tyr   Disease       -              Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA5     Q8WWZ7     VAR_027571  p.Gln93Lys     Polymorphism  rs12383        -
ABCA5     Q8WWZ7     VAR_027572  p.Gln484Arg    Polymorphism  rs17686569     -
ABCA5     Q8WWZ7     VAR_027573  p.Met753Val    Polymorphism  rs9898003      -
ABCA5     Q8WWZ7     VAR_027574  p.Ala832Ser    Polymorphism  rs536009       -
ABCA5     Q8WWZ7     VAR_027575  p.Met960Val    Polymorphism  rs557491       -
ABCA5     Q8WWZ7     VAR_048128  p.Ala178Thr    Polymorphism  rs11544715     -
ABCA5     Q8WWZ7     VAR_048129  p.Asp1260Gly   Polymorphism  rs11544716     -
ABCA6     Q8N139     VAR_027576  p.Val282Ile    Polymorphism  rs4968839      -
ABCA6     Q8N139     VAR_027577  p.Asn610Tyr    Polymorphism  rs9282554      -
ABCA6     Q8N139     VAR_027578  p.Met698Ile    Polymorphism  rs9282553      -
ABCA6     Q8N139     VAR_027579  p.Met875Ile    Polymorphism  rs7212506      -
ABCA6     Q8N139     VAR_027580  p.Asn1322Ser   Polymorphism  rs2302134      -
ABCA7     Q8IZY2     VAR_027581  p.Glu188Gly    Polymorphism  rs3764645      -
ABCA7     Q8IZY2     VAR_027582  p.Thr319Ala    Polymorphism  rs3752232      -
ABCA7     Q8IZY2     VAR_027583  p.His395Arg    Polymorphism  rs3764647      -
ABCA7     Q8IZY2     VAR_027584  p.Arg463His    Polymorphism  rs3752233      -
ABCA7     Q8IZY2     VAR_027585  p.Asn718Thr    Polymorphism  rs3752239      -
ABCA7     Q8IZY2     VAR_027586  p.Arg1349Gln   Polymorphism  rs3745842      -
ABCA7     Q8IZY2     VAR_027587  p.Gly1527Ala   Polymorphism  rs3752246      -
ABCA7     Q8IZY2     VAR_027588  p.Gln1686Arg   Polymorphism  rs4147918      -
ABCA7     Q8IZY2     VAR_027589  p.Ala2045Ser   Polymorphism  rs4147934      -
ABCA7     Q8IZY2     VAR_060985  p.Ala676Thr    Polymorphism  rs59851484     -
ABCA7     Q8IZY2     VAR_081204  p.Arg880Gln    Disease       rs143718918    Alzheimer disease 9 (AD9) [MIM:608907]
ABCA8     O94911     VAR_027590  p.Thr256Ala    Polymorphism  rs16973446     -
ABCA8     O94911     VAR_027591  p.Gly331Ser    Polymorphism  rs4147979      -
ABCA8     O94911     VAR_027592  p.Tyr489Phe    Polymorphism  rs12150510     -
ABCA8     O94911     VAR_027593  p.Cys680Gly    Polymorphism  rs16973424     -
ABCA8     O94911     VAR_048130  p.Ala416Val    Polymorphism  rs35621847     -
ABCA8     O94911     VAR_048131  p.Leu619Arg    Polymorphism  rs35844316     -
ABCA8     O94911     VAR_048132  p.Gly1430Ser   Polymorphism  rs35403175     -
ABCA9     Q8IUA7     VAR_027594  p.Arg353His    Polymorphism  rs1860447      -
ABCA9     Q8IUA7     VAR_027595  p.Asn785Ser    Polymorphism  rs17684521     -
ABCA9     Q8IUA7     VAR_027596  p.Lys1306Thr   Polymorphism  rs2302294      -
ABCA9     Q8IUA7     VAR_027597  p.Gly1356Ser   Polymorphism  rs9916254      -
ABCB1     P08183     VAR_013361  p.Ser893Ala    Polymorphism  rs2032582      -
ABCB1     P08183     VAR_013362  p.Ser893Thr    Polymorphism  rs2032582      -
ABCB1     P08183     VAR_014704  p.Asn21Asp     Polymorphism  rs9282564      -
ABCB1     P08183     VAR_015001  p.Phe103Leu    Polymorphism  -              -
ABCB1     P08183     VAR_015002  p.Gly185Val    Polymorphism  rs1128501      -
ABCB1     P08183     VAR_015003  p.Ser400Asn    Polymorphism  rs2229109      -
ABCB1     P08183     VAR_015004  p.Ala999Thr    Polymorphism  rs72552784     -
ABCB1     P08183     VAR_015005  p.Gln1107Pro   Polymorphism  rs55852620     -
ABCB1     P08183     VAR_018351  p.Glu108Lys    Polymorphism  -              -
ABCB1     P08183     VAR_018352  p.Met986Val    Polymorphism  rs926081975    -
ABCB1     P08183     VAR_018353  p.Val1251Ile   Polymorphism  rs28364274     -
ABCB1     P08183     VAR_022276  p.Phe17Leu     Polymorphism  rs28381804     -
ABCB1     P08183     VAR_022277  p.Glu566Lys    Polymorphism  rs28381902     -
ABCB1     P08183     VAR_022278  p.Arg593Cys    Polymorphism  rs28381914     -
ABCB1     P08183     VAR_022279  p.Ile836Val    Polymorphism  rs28381967     -
ABCB1     P08183     VAR_022280  p.Pro1051Ala   Polymorphism  rs28401798     -
ABCB1     P08183     VAR_022281  p.Ser1141Thr   Polymorphism  rs2229107      -
ABCB1     P08183     VAR_035737  p.Lys887Asn    Unclassified  -              A colorectal cancer sample
ABCB1     P08183     VAR_055423  p.Asn44Ser     Polymorphism  rs1202183      -
ABCB1     P08183     VAR_055424  p.Ala80Glu     Polymorphism  rs9282565      -
ABCB1     P08183     VAR_055425  p.Ile261Val    Polymorphism  rs36008564     -
ABCB1     P08183     VAR_055426  p.Ala599Thr    Polymorphism  rs2235036      -
ABCB1     P08183     VAR_055427  p.Arg669Cys    Polymorphism  rs35023033     -
ABCB1     P08183     VAR_055428  p.Val801Met    Polymorphism  rs2235039      -
ABCB1     P08183     VAR_055429  p.Ile829Val    Polymorphism  rs2032581      -
ABCB10    Q9NRK6     VAR_013702  p.Ala150Ser    Polymorphism  rs4148756      -
ABCB10    Q9NRK6     VAR_031435  p.Asp545Asn    Polymorphism  rs35698797     -
ABCB10    Q9NRK6     VAR_035735  p.Arg471Thr    Unclassified  -              A breast cancer sample
ABCB10    Q9NRK6     VAR_048133  p.Arg242Gly    Polymorphism  rs17584642     -
ABCB11    O95342     VAR_010271  p.Glu297Gly    Disease       rs11568372     Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_010271  p.Glu297Gly    Disease       rs11568372     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013332  p.Val284Leu    Disease       -              Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013333  p.Val444Ala    Polymorphism  rs2287622      -
ABCB11    O95342     VAR_013334  p.Lys461Glu    Disease       rs1274558905   Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013335  p.Asp482Gly    Disease       rs72549402     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013336  p.Gly982Arg    Disease       rs72549399     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013337  p.Gly1004Asp   Disease       -              Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013338  p.Arg1153Cys   Disease       rs72549395     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013339  p.Arg1268Gln   Disease       rs72549394     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_030386  p.Glu186Gly    Disease       rs72551307     Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030387  p.Ile206Val    Polymorphism  rs11568357     -
ABCB11    O95342     VAR_030388  p.Gly238Val    Disease       rs72551306     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_030389  p.Arg299Lys    Polymorphism  rs2287617      -
ABCB11    O95342     VAR_030390  p.Cys336Ser    Disease       rs72551305     Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_030391  p.Arg432Thr    Disease       rs121908935    Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030392  p.Ala570Thr    Disease       rs886043807    Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030393  p.Met677Val    Polymorphism  rs11568364     -
ABCB11    O95342     VAR_030394  p.Thr923Pro    Disease       rs777469571    Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030395  p.Ala926Pro    Disease       rs72549400     Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030396  p.Arg1050Cys   Disease       rs72549398     Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030397  p.Arg1128His   Disease       rs756220860    Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030398  p.Glu1186Lys   Polymorphism  rs1521808      -
ABCB11    O95342     VAR_035349  p.Val284Ala    Polymorphism  rs200739891    -
ABCB11    O95342     VAR_035350  p.Arg616Gly    Polymorphism  -              -
ABCB11    O95342     VAR_035351  p.Thr619Ala    Polymorphism  rs912519986    -
ABCB11    O95342     VAR_035352  p.Arg698His    Polymorphism  rs138642043    -
ABCB11    O95342     VAR_035353  p.Ala865Val    Polymorphism  rs118109635    -
ABCB11    O95342     VAR_035354  p.Arg958Gln    Polymorphism  rs761363245    -
ABCB11    O95342     VAR_043074  p.Arg415Gln    Polymorphism  rs371656014    -
ABCB11    O95342     VAR_043075  p.Asn591Ser    Polymorphism  rs11568367     -
ABCB11    O95342     VAR_043076  p.Asp676Tyr    Unclassified  -              -
ABCB11    O95342     VAR_043077  p.Gly855Arg    Unclassified  -              -
ABCB11    O95342     VAR_055472  p.Ser56Leu     Polymorphism  rs11568361     -
ABCB11    O95342     VAR_059106  p.Val444Asp    Polymorphism  rs2287622      -
ABCB11    O95342     VAR_059107  p.Val444Gly    Polymorphism  rs2287622      -
ABCB11    O95342     VAR_073967  p.Tyr337His    Unclassified  -              Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_073968  p.Tyr472Cys    Disease       rs369860506    Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_073969  p.Arg696Trp    Unclassified  rs376216286    Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_073970  p.Gln931Pro    Unclassified  -              Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_073971  p.Asp1131Val   Disease       -              Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_073972  p.His1198Arg   Unclassified  -              Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB4     P21439     VAR_020223  p.Leu238Val    Polymorphism  rs45596335     -
ABCB4     P21439     VAR_020225  p.Arg652Gly    Polymorphism  rs2230028      -
ABCB4     P21439     VAR_023501  p.Thr175Ala    Unclassified  rs58238559     -
ABCB4     P21439     VAR_023502  p.Ser320Phe    Unclassified  rs72552778     Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4     P21439     VAR_023502  p.Ser320Phe    Unclassified  rs72552778     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_023502  p.Ser320Phe    Unclassified  rs72552778     Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_023503  p.Ala546Asp    Disease       rs121918441    Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4     P21439     VAR_023504  p.Pro1168Ser   Disease       rs121918442    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_024359  p.Arg788Gln    Unclassified  rs8187801      -
ABCB4     P21439     VAR_030763  p.Ile263Val    Polymorphism  rs45547936     -
ABCB4     P21439     VAR_030765  p.Thr651Asn    Polymorphism  rs45476795     -
ABCB4     P21439     VAR_043078  p.Asp87Glu     Polymorphism  -              -
ABCB4     P21439     VAR_043079  p.Pro95Ser     Polymorphism  rs377268767    -
ABCB4     P21439     VAR_043080  p.Trp138Arg    Disease       rs72552781     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043081  p.Arg150Lys    Disease       rs757693457    Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4     P21439     VAR_043082  p.Phe165Ile    Disease       -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043083  p.Met301Thr    Disease       rs72552779     Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043084  p.Ser346Ile    Disease       rs67876345     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043085  p.Ile367Val    Polymorphism  rs1168923653   -
ABCB4     P21439     VAR_043086  p.Glu395Gly    Disease       rs72552777     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043087  p.Thr424Ala    Disease       rs1263565476   Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043088  p.Val425Met    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043089  p.Glu450Gly    Polymorphism  rs1189003716   -
ABCB4     P21439     VAR_043090  p.Glu528Asp    Unclassified  rs8187797      Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043091  p.Gly535Asp    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043092  p.Ile541Phe    Disease       rs66904256     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043092  p.Ile541Phe    Disease       rs66904256     Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043093  p.Leu556Arg    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043094  p.Asp564Gly    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043095  p.Arg590Gln    Unclassified  rs45575636     -
ABCB4     P21439     VAR_043096  p.Leu591Gln    Disease       rs72552776     Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043097  p.Phe711Ser    Disease       rs72552773     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043098  p.Gly742Ser    Polymorphism  -              -
ABCB4     P21439     VAR_043099  p.Gly762Glu    Disease       -              Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4     P21439     VAR_043100  p.Ile764Leu    Unclassified  -              -
ABCB4     P21439     VAR_043101  p.Thr775Met    Unclassified  rs148052192    -
ABCB4     P21439     VAR_043102  p.Ala934Thr    Unclassified  rs61730509     -
ABCB4     P21439     VAR_043103  p.Gly983Ser    Disease       rs56187107     Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043104  p.Leu1082Gln   Polymorphism  rs1214110864   -
ABCB4     P21439     VAR_073728  p.Thr34Met     Disease       rs142794414    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073729  p.Arg47Gly     Disease       -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073730  p.Arg47Gln     Unclassified  rs372685632    -
ABCB4     P21439     VAR_073731  p.Gly68Arg     Disease       rs1343667900   Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073732  p.Gly70Arg     Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073733  p.Leu71His     Disease       rs780641693    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073734  p.Leu73Val     Disease       rs8187788      Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073734  p.Leu73Val     Disease       rs8187788      Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073735  p.Phe78Cys     Disease       rs1411970557   Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073736  p.Ser99Phe     Disease       rs1408217402   Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073737  p.Gly124Ser    Disease       -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073738  p.Gly126Glu    Disease       rs1021988376   Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073739  p.Phe154Ser    Disease       -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073740  p.Thr201Met    Disease       rs753318087    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073741  p.Ala250Pro    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073742  p.Ala286Val    Disease       rs765478923    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073742  p.Ala286Val    Disease       rs765478923    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073743  p.Phe357Leu    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073744  p.Ala364Val    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073745  p.Tyr403His    Disease       rs121918443    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073746  p.Arg406Gly    Disease       -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073747  p.Arg406Gln    Unclassified  rs763807769    -
ABCB4     P21439     VAR_073748  p.Asp459His    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073749  p.Val475Ala    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073750  p.Pro479Leu    Disease       rs748657435    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073751  p.Leu481Arg    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073752  p.Asn510Ser    Disease       rs375315619    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073753  p.Ala511Thr    Disease       rs1257887155   Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073753  p.Ala511Thr    Disease       rs1257887155   Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073754  p.Glu513Lys    Disease       -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073755  p.Arg545His    Disease       -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073756  p.Arg549His    Disease       rs761238221    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073757  p.Glu558Lys    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073758  p.His589Thr    Disease       -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073759  p.Thr593Ala    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073760  p.Thr593Met    Disease       rs571555115    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073761  p.Met630Val    Disease       rs372476723    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073762  p.Glu647Lys    Disease       rs972726699    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073763  p.Leu701Pro    Disease       rs988987669    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073764  p.Thr715Ile    Disease       rs138773456    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073765  p.Gly723Glu    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073766  p.Pro726Leu    Disease       rs141677867    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073767  p.Pro726Thr    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073768  p.Ser729Leu    Disease       rs970324585    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073769  p.Ala737Val    Disease       rs147134978    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073770  p.Ala840Asp    Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073771  p.Gly954Ser    Disease       rs779829759    Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073772  p.Val964Thr    Unclassified  -              -
ABCB4     P21439     VAR_073773  p.Leu975Val    Disease       rs759787957    Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073774  p.Ser978Pro    Disease       rs1051861187   Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073775  p.Arg1084Trp   Disease       rs1262922848   Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_073776  p.Glu1125Lys   Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_073777  p.Ala1193Thr   Disease       -              Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_079611  p.Gly536Arg    Disease       -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_079612  p.Ser1183Leu   Disease       -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_079613  p.Gly1185Ser   Disease       -              Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB5     Q2M3G0     VAR_028387  p.Lys560Glu    Polymorphism  rs2301641      -
ABCB5     Q2M3G0     VAR_028388  p.Lys669Arg    Polymorphism  rs13222448     -
ABCB5     Q2M3G0     VAR_028389  p.Ala915Thr    Polymorphism  rs17143304     -
ABCB5     Q2M3G0     VAR_028390  p.Glu970Lys    Polymorphism  rs6461515      -
ABCB5     Q2M3G0     VAR_033456  p.Gln905His    Polymorphism  rs35885925     -
ABCB5     Q2M3G0     VAR_035731  p.Glu675Val    Unclassified  -              A colorectal cancer sample
ABCB5     Q2M3G0     VAR_062662  p.Ala880Thr    Unclassified  rs1187237313   A pancreatic ductal adenocarcinoma sample
ABCB6     Q9NP58     VAR_029749  p.Arg648Gln    Polymorphism  rs13402964     -
ABCB6     Q9NP58     VAR_035732  p.Arg69Gly     Unclassified  -              A breast cancer sample
ABCB6     Q9NP58     VAR_047552  p.Leu293Val    Polymorphism  rs13018440     -
ABCB6     Q9NP58     VAR_060986  p.Arg343Gln    Polymorphism  rs60322991     -
ABCB6     Q9NP58     VAR_067394  p.Ala57Thr     Unclassified  rs387906911    Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]
ABCB6     Q9NP58     VAR_067395  p.Leu811Val    Disease       rs387906910    Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]
ABCB6     Q9NP58     VAR_070602  p.Ser170Gly    Disease       rs397514757    Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_070603  p.Leu356Pro    Disease       rs397514756    Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_070604  p.Gly579Glu    Disease       rs397514758    Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_071133  p.Arg375Gln    Disease       rs754667801    Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153]
ABCB6     Q9NP58     VAR_071134  p.Arg375Trp    Disease       rs764893806    Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153]
ABCB6     Q9NP58     VAR_071135  p.Ala453Val    Disease       -              Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_071136  p.Gln555Lys    Disease       rs796065353    Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_073973  p.Ser322Arg    Disease       -              Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_073974  p.Tyr424His    Disease       -              Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_076206  p.Arg723Gln    Disease       rs148211042    Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153]
ABCB7     O75027     VAR_009156  p.Ile400Met    Disease       rs72554634     Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB7     O75027     VAR_012640  p.Glu433Lys    Disease       rs80356714     Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB7     O75027     VAR_022872  p.Arg315Gly    Polymorphism  -              -
ABCB7     O75027     VAR_022873  p.Phe346Ile    Polymorphism  -              -
ABCB7     O75027     VAR_022874  p.Val411Leu    Disease       rs80356713     Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB7     O75027     VAR_037972  p.Val581Ala    Polymorphism  rs1340989      -
ABCB7     O75027     VAR_055471  p.Ala580Val    Polymorphism  rs1340989      -
ABCB7     O75027     VAR_067354  p.Glu208Asp    Disease       rs515726147    Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB8     Q9NUT2     VAR_013331  p.Val152Ile    Polymorphism  rs4148844      -
ABCB8     Q9NUT2     VAR_035733  p.Ile165Thr    Unclassified  -              A breast cancer sample
ABCB8     Q9NUT2     VAR_035734  p.Ala690Gly    Unclassified  -              A breast cancer sample
ABCB9     Q9NP78     VAR_013701  p.Val121Met    Polymorphism  rs3803002      -
ABCC1     P33527     VAR_011488  p.Arg633Gln    Polymorphism  rs112282109    -
ABCC1     P33527     VAR_011489  p.Gly671Val    Polymorphism  rs45511401     -
ABCC1     P33527     VAR_013317  p.Cys43Ser     Polymorphism  rs41395947     -
ABCC1     P33527     VAR_013318  p.Thr73Ile     Polymorphism  rs41494447     -
ABCC1     P33527     VAR_013319  p.Met117Thr    Polymorphism  -              -
ABCC1     P33527     VAR_013320  p.Arg433Ser    Polymorphism  rs60782127     -
ABCC1     P33527     VAR_013321  p.Arg723Gln    Polymorphism  rs4148356      -
ABCC1     P33527     VAR_013322  p.Arg1058Gln   Polymorphism  rs41410450     -
ABCC1     P33527     VAR_013323  p.Ser1512Leu   Polymorphism  rs369410659    -
ABCC1     P33527     VAR_055384  p.Ala861Thr    Polymorphism  rs45517537     -
ABCC1     P33527     VAR_055385  p.Cys1047Ser   Polymorphism  rs13337489     -
ABCC1     P33527     VAR_055386  p.Val1146Ile   Polymorphism  rs28706727     -
ABCC10    Q5T3U5     VAR_028391  p.Ile948Thr    Polymorphism  rs2125739      -
ABCC11    Q96J66     VAR_025437  p.Arg19His     Polymorphism  rs16945988     -
ABCC11    Q96J66     VAR_025438  p.Gly180Arg    Polymorphism  rs17822931     -
ABCC11    Q96J66     VAR_048144  p.Ala317Glu    Polymorphism  rs11863236     -
ABCC11    Q96J66     VAR_048145  p.Thr546Met    Polymorphism  rs17822471     -
ABCC11    Q96J66     VAR_048146  p.Val648Ile    Polymorphism  rs16945930     -
ABCC11    Q96J66     VAR_048147  p.Val687Ile    Polymorphism  rs16945928     -
ABCC11    Q96J66     VAR_048148  p.Lys735Arg    Polymorphism  rs16945926     -
ABCC11    Q96J66     VAR_048149  p.His1344Arg   Polymorphism  rs16945916     -
ABCC11    Q96J66     VAR_077575  p.Arg630Trp    Polymorphism  rs41282045     -
ABCC11    Q96J66     VAR_077576  p.Met970Val    Polymorphism  rs41280943     -
ABCC12    Q96J65     VAR_028392  p.Ile9Leu      Polymorphism  rs16945901     -
ABCC12    Q96J65     VAR_028393  p.Ala102Glu    Polymorphism  rs16945874     -
ABCC12    Q96J65     VAR_028394  p.Asn587Tyr    Polymorphism  rs16945816     -
ABCC12    Q96J65     VAR_028395  p.Lys894Met    Polymorphism  rs8057474      -
ABCC12    Q96J65     VAR_028396  p.Thr989Ser    Polymorphism  rs6500305      -
ABCC12    Q96J65     VAR_028397  p.Tyr1013His   Polymorphism  rs6500304      -
ABCC12    Q96J65     VAR_028398  p.Arg1117Cys   Polymorphism  rs7193955      -
ABCC12    Q96J65     VAR_028399  p.Glu1191Ala   Polymorphism  rs16945787     -
ABCC12    Q96J65     VAR_028400  p.Phe1349Leu   Polymorphism  rs12373105     -
ABCC12    Q96J65     VAR_048139  p.Glu690Val    Polymorphism  rs34135219     -
ABCC12    Q96J65     VAR_048140  p.Ile1187Thr   Polymorphism  rs34106426     -
ABCC2     Q92887     VAR_000099  p.Arg768Trp    Disease       rs56199535     Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2     Q92887     VAR_010756  p.Gln1382Arg   Disease       rs72558202     Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2     Q92887     VAR_013324  p.Ser281Asn    Polymorphism  rs56131651     -
ABCC2     Q92887     VAR_013325  p.Val417Ile    Polymorphism  rs2273697      -
ABCC2     Q92887     VAR_013326  p.Ser789Phe    Polymorphism  rs56220353     -
ABCC2     Q92887     VAR_013327  p.Arg1150His   Disease       rs72558200     Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2     Q92887     VAR_013328  p.Ile1173Phe   Disease       rs72558201     Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2     Q92887     VAR_013330  p.Ala1450Thr   Polymorphism  rs56296335     -
ABCC2     Q92887     VAR_020226  p.Asp333Gly    Polymorphism  rs17222674     -
ABCC2     Q92887     VAR_020227  p.Arg353His    Polymorphism  rs7080681      -
ABCC2     Q92887     VAR_020228  p.Ile670Thr    Polymorphism  rs17222632     -
ABCC2     Q92887     VAR_020229  p.Leu849Arg    Polymorphism  rs17222617     -
ABCC2     Q92887     VAR_020230  p.Ile1036Thr   Polymorphism  rs45441199     -
ABCC2     Q92887     VAR_020231  p.Arg1181Leu   Polymorphism  rs8187692      -
ABCC2     Q92887     VAR_020232  p.Val1188Glu   Polymorphism  rs17222723     -
ABCC2     Q92887     VAR_020233  p.Pro1291Leu   Polymorphism  rs17216317     -
ABCC2     Q92887     VAR_020234  p.Cys1515Tyr   Polymorphism  rs8187710      -
ABCC2     Q92887     VAR_024360  p.Thr1273Ala   Polymorphism  rs8187699      -
ABCC2     Q92887     VAR_029113  p.Met246Leu    Polymorphism  rs17222744     -
ABCC2     Q92887     VAR_029115  p.Lys495Glu    Polymorphism  rs17222561     -
ABCC2     Q92887     VAR_029116  p.Phe562Leu    Polymorphism  rs17216233     -
ABCC2     Q92887     VAR_029117  p.Ile982Val    Polymorphism  rs17222554     -
ABCC2     Q92887     VAR_029118  p.Asn1063Ser   Polymorphism  rs17222540     -
ABCC2     Q92887     VAR_047152  p.Tyr39Phe     Polymorphism  rs927344       -
ABCC2     Q92887     VAR_070607  p.Thr486Ile    Polymorphism  rs17222589     -
ABCC2     Q92887     VAR_070608  p.Gly921Ser    Polymorphism  rs41318029     -
ABCC2     Q92887     VAR_070609  p.Arg1174His   Polymorphism  rs139188247    -
ABCC2     Q92887     VAR_070610  p.Asn1244Lys   Polymorphism  rs757141905    -
ABCC3     O15438     VAR_020235  p.Ser346Phe    Polymorphism  rs11568605     -
ABCC3     O15438     VAR_020237  p.Arg1297His   Polymorphism  rs11568591     -
ABCC3     O15438     VAR_020239  p.Gln1365Arg   Polymorphism  rs11568590     -
ABCC3     O15438     VAR_020240  p.Arg1381Ser   Polymorphism  rs45461799     -
ABCC3     O15438     VAR_029119  p.Gly11Asp     Polymorphism  rs11568609     -
ABCC3     O15438     VAR_029120  p.Arg1286Gly   Polymorphism  rs11568593     -
ABCC4     O15439     VAR_020241  p.Met184Thr    Polymorphism  rs45454092     -
ABCC4     O15439     VAR_020242  p.Gly187Trp    Polymorphism  rs11568658     -
ABCC4     O15439     VAR_020243  p.Lys498Glu    Polymorphism  rs11568669     -
ABCC4     O15439     VAR_020244  p.Met744Val    Polymorphism  rs9282570      -
ABCC4     O15439     VAR_020245  p.Val860Met    Polymorphism  rs45477596     -
ABCC4     O15439     VAR_020246  p.Val900Leu    Polymorphism  rs45504892     -
ABCC4     O15439     VAR_022072  p.Lys304Asn    Polymorphism  rs2274407      -
ABCC4     O15439     VAR_022073  p.Glu757Lys    Polymorphism  rs3765534      -
ABCC4     O15439     VAR_029121  p.Pro78Ala     Polymorphism  rs11568689     -
ABCC4     O15439     VAR_029122  p.Pro403Leu    Polymorphism  rs11568705     -
ABCC4     O15439     VAR_029123  p.Gly487Glu    Polymorphism  rs11568668     -
ABCC4     O15439     VAR_029124  p.Ile625Met    Polymorphism  rs11568699     -
ABCC4     O15439     VAR_029125  p.Pro667Leu    Polymorphism  rs11568697     -
ABCC4     O15439     VAR_029126  p.Thr1142Met   Polymorphism  rs11568644     -
ABCC4     O15439     VAR_045684  p.Tyr556Cys    Polymorphism  rs753414892    -
ABCC4     O15439     VAR_045685  p.Val776Ile    Polymorphism  rs146708960    -
ABCC4     O15439     VAR_045686  p.Arg820Ile    Polymorphism  rs11568659     -
ABCC4     O15439     VAR_045687  p.Val854Phe    Polymorphism  rs11568694     -
ABCC4     O15439     VAR_045688  p.Ile866Val    Polymorphism  rs139970608    -
ABCC4     O15439     VAR_046445  p.Leu18Ile     Polymorphism  rs11568681     -
ABCC4     O15439     VAR_046446  p.Cys171Gly    Polymorphism  rs4148460      -
ABCC4     O15439     VAR_046447  p.Lys293Glu    Polymorphism  rs11568684     -
ABCC4     O15439     VAR_046448  p.Thr356Met    Polymorphism  rs11568701     -
ABCC6     O95255     VAR_011490  p.Val614Ala    Polymorphism  rs12931472     -
ABCC6     O95255     VAR_011491  p.Arg1114Pro   Disease       rs63750427     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_011492  p.Arg1138Gln   Disease       rs60791294     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_011493  p.Arg1138Trp   Disease       rs28939701     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_011494  p.Arg1268Gln   Polymorphism  rs2238472      -
ABCC6     O95255     VAR_011495  p.Arg1314Trp   Disease       rs63750759     Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_011495  p.Arg1314Trp   Disease       rs63750759     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013364  p.Gly61Asp     Polymorphism  rs72657696     -
ABCC6     O95255     VAR_013365  p.Arg64Trp     Polymorphism  rs557180313    -
ABCC6     O95255     VAR_013366  p.Gly207Arg    Polymorphism  rs72657697     -
ABCC6     O95255     VAR_013367  p.Arg265Gly    Polymorphism  rs72657698     -
ABCC6     O95255     VAR_013368  p.Lys281Glu    Polymorphism  rs4780606      -
ABCC6     O95255     VAR_013369  p.Ile319Val    Polymorphism  rs72657699     -
ABCC6     O95255     VAR_013370  p.Thr364Arg    Disease       rs72653759     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013371  p.Asn411Lys    Disease       rs9930886      Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013372  p.Ala455Pro    Disease       rs67996819     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013373  p.Asn497Lys    Polymorphism  rs72653770     -
ABCC6     O95255     VAR_013374  p.Arg518Gln    Disease       rs72653772     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013375  p.Phe568Ser    Disease       rs66864704     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013376  p.His632Gln    Polymorphism  rs8058694      -
ABCC6     O95255     VAR_013377  p.Leu673Pro    Disease       rs67470842     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013378  p.Arg765Gln    Disease       rs67561842     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013379  p.Leu953His    Polymorphism  rs72657700     -
ABCC6     O95255     VAR_013380  p.Ser1121Trp   Disease       rs63750987     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013381  p.Arg1138Pro   Disease       rs60791294     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013382  p.Gly1203Asp   Disease       rs63750607     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013383  p.Trp1241Cys   Polymorphism  rs72657701     -
ABCC6     O95255     VAR_013384  p.Val1298Phe   Disease       rs63751325     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013385  p.Thr1301Ile   Disease       rs63750494     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013386  p.Gly1302Arg   Disease       rs63749856     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013387  p.Ala1303Pro   Disease       rs63750410     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013388  p.Arg1314Gln   Disease       rs63751086     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013389  p.Gly1321Ser   Disease       rs63749823     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013390  p.Arg1339Cys   Disease       rs28939702     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013391  p.Gln1347His   Disease       rs63751111     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013392  p.Gly1354Arg   Disease       rs63750018     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013393  p.Asp1361Asn   Disease       rs58695352     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013394  p.Ile1424Thr   Disease       rs63750295     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_055477  p.Val665Ala    Polymorphism  rs4341770      -
ABCC6     O95255     VAR_059108  p.Met848Val    Polymorphism  rs6416668      -
ABCC6     O95255     VAR_060988  p.Leu1097Ile   Polymorphism  rs60707953     -
ABCC6     O95255     VAR_067841  p.Ala78Thr     Disease       rs2856597      Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067842  p.Glu125Lys    Disease       rs3853814      Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067843  p.Gly129Glu    Disease       rs72653753     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067844  p.Ala158Val    Polymorphism  rs2606921      -
ABCC6     O95255     VAR_067845  p.Ser317Arg    Disease       rs78678589     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067846  p.Leu355Arg    Disease       rs72653758     Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067846  p.Leu355Arg    Disease       rs72653758     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067848  p.Asn370Asp    Disease       rs72653760     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067849  p.Arg382Trp    Disease       rs72653761     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067850  p.Arg391Gly    Disease       rs72653762     Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067850  p.Arg391Gly    Disease       rs72653762     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067851  p.Lys392Asn    Disease       rs72653763     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067852  p.Ser398Gly    Disease       rs72653764     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067853  p.Val417Met    Polymorphism  rs768869262    -
ABCC6     O95255     VAR_067854  p.Cys440Gly    Disease       rs72653766     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067855  p.Leu463His    Disease       rs72653767     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067856  p.Leu495His    Disease       rs72653769     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067857  p.Val514Ile    Polymorphism  rs59157279     -
ABCC6     O95255     VAR_067858  p.Ser535Pro    Disease       rs72653773     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067859  p.Phe551Ser    Disease       rs72653774     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067860  p.Ser590Phe    Disease       rs537233133    Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067861  p.Ala594Val    Disease       rs72653776     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067862  p.Arg600Cys    Disease       rs72653777     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067863  p.Gly663Cys    Disease       rs72653780     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067864  p.Leu677Pro    Disease       rs72653782     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067865  p.Gln698Pro    Disease       rs72653783     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067866  p.Glu699Asp    Disease       rs72653784     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067867  p.Arg724Lys    Polymorphism  rs58073789     -
ABCC6     O95255     VAR_067868  p.Arg724Leu    Polymorphism  -              -
ABCC6     O95255     VAR_067869  p.Leu726Pro    Disease       rs72653785     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067870  p.Ile742Val    Polymorphism  rs59593133     -
ABCC6     O95255     VAR_067871  p.Met751Lys    Disease       rs72653786     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067872  p.Gly755Arg    Disease       rs72653787     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067873  p.Arg760Trp    Disease       rs72653788     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067874  p.Ala766Asp    Disease       rs72653789     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067875  p.Asp777Asn    Disease       rs72653790     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067876  p.Arg807Gln    Disease       rs72653794     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067877  p.Arg807Trp    Disease       rs72653793     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067878  p.Val810Met    Disease       rs72653795     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067879  p.Thr811Met    Disease       rs72653796     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067880  p.Ala820Pro    Disease       rs72653797     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067881  p.Arg881Ser    Disease       rs72653800     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067882  p.Thr944Ile    Disease       rs72653801     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067883  p.Leu946Ile    Polymorphism  rs61340537     -
ABCC6     O95255     VAR_067884  p.Ala950Thr    Disease       rs72657689     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067885  p.Gly992Arg    Disease       rs72657692     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067888  p.Asp1056Glu   Disease       rs72657694     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067889  p.Arg1064Trp   Polymorphism  rs41278174     -
ABCC6     O95255     VAR_067890  p.Arg1114Cys   Disease       rs63749794     Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067890  p.Arg1114Cys   Disease       rs63749794     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067891  p.Ser1121Leu   Disease       rs63750987     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067892  p.Thr1130Met   Disease       rs63750459     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067893  p.Gly1133Ala   Disease       rs63750473     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067894  p.Ala1139Thr   Disease       rs63750146     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067895  p.Arg1164Gln   Disease       rs63750457     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067896  p.Arg1221Cys   Disease       rs63751215     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067897  p.Arg1221His   Disease       rs63751001     Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067898  p.Leu1226Ile   Disease       rs63750125     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067899  p.Arg1235Trp   Disease       rs63750402     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067900  p.Asp1238His   Disease       rs63749796     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067901  p.Leu1335Pro   Disease       rs63750414     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067902  p.Leu1335Gln   Disease       rs63750414     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067903  p.Arg1339Leu   Disease       rs63750622     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067904  p.Arg1339His   Disease       rs63750622     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067905  p.Pro1346Ser   Disease       rs63751112     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067906  p.Arg1357Trp   Disease       rs63750428     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067907  p.Glu1400Lys   Disease       rs63751241     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067908  p.Gln1406Lys   Disease       rs387906859    Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067909  p.Arg1459Cys   Disease       rs72547524     Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_072803  p.Pro4His      Unclassified  rs1555523872   -
ABCC6     O95255     VAR_072804  p.Ala9Glu      Unclassified  rs1555523855   -
ABCC6     O95255     VAR_072805  p.Pro21Ser     Unclassified  rs1235912910   -
ABCC6     O95255     VAR_072806  p.Arg64Gln     Unclassified  rs777566074    -
ABCC6     O95255     VAR_072807  p.Ala90Thr     Unclassified  rs957828732    -
ABCC6     O95255     VAR_072808  p.Arg419Gln    Unclassified  rs772434460    -
ABCC6     O95255     VAR_072809  p.Leu605Pro    Unclassified  rs768271196    -
ABCC6     O95255     VAR_072810  p.Glu709Gly    Unclassified  rs1555513103   -
ABCC6     O95255     VAR_072811  p.Met834Thr    Unclassified  rs1355752953   -
ABCC6     O95255     VAR_072812  p.Leu948Pro    Unclassified  rs1555510407   -
ABCC6     O95255     VAR_072813  p.Ala1442Thr   Unclassified  -              -
ABCC8     Q09428     VAR_000100  p.Gly716Val    Disease       rs72559723     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008537  p.Arg1352Pro   Disease       rs28936370     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008539  p.Arg1420Cys   Disease       rs28938469     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008540  p.Arg1493Trp   Disease       rs28936371     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008639  p.Arg74Gln     Disease       rs72559734     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008640  p.His125Gln    Disease       rs60637558     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008641  p.Val187Asp    Disease       rs137852672    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008642  p.Asn188Ser    Disease       rs797045213    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008643  p.Arg275Gln    Polymorphism  rs185040406    -
ABCC8     Q09428     VAR_008644  p.Asn406Asp    Disease       rs72559728     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008645  p.Val560Met    Polymorphism  rs4148619      -
ABCC8     Q09428     VAR_008646  p.Phe591Leu    Disease       rs72559726     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008647  p.Asp810Asn    Polymorphism  rs767572066    -
ABCC8     Q09428     VAR_008648  p.Arg834Cys    Polymorphism  rs140068774    -
ABCC8     Q09428     VAR_008649  p.Thr1138Met   Disease       rs201351976    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008650  p.Arg1214Gln   Disease       rs367850779    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008651  p.Val1360Gly   Polymorphism  -              -
ABCC8     Q09428     VAR_008652  p.Ala1369Ser   Polymorphism  rs757110       -
ABCC8     Q09428     VAR_008653  p.Gly1378Arg   Disease       rs925231098    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008654  p.Gly1381Ser   Disease       rs773448052    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008655  p.Arg1393His   Disease       rs769279368    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008656  p.Gly1478Arg   Disease       rs72559715     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008658  p.Val1572Ile   Polymorphism  rs8192690      -
ABCC8     Q09428     VAR_015006  p.Asp673Asn    Polymorphism  rs777986828    -
ABCC8     Q09428     VAR_015007  p.Val1360Met   Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_015008  p.Arg1436Gln   Disease       rs387906407    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_015009  p.Glu1506Lys   Disease       rs137852671    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_015010  p.Leu1543Pro   Disease       rs72559713     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_029777  p.Leu104Val    Polymorphism  rs10400391     -
ABCC8     Q09428     VAR_029778  p.Phe132Leu    Disease       rs80356637     Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_029779  p.Leu213Arg    Disease       rs80356642     Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_029780  p.Cys435Arg    Disease       -              Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029781  p.Leu582Val    Disease       rs137852674    Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029782  p.His1023Tyr   Disease       -              Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029783  p.Arg1182Gln   Disease       rs193922400    Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029784  p.Arg1352His   Disease       rs28936370     Leucine-induced hypoglycemia (LIH) [MIM:240800]
ABCC8     Q09428     VAR_029785  p.Arg1379Cys   Disease       rs137852673    Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029787  p.Ile1424Val   Disease       rs80356653     Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_031349  p.Gly7Arg      Disease       rs781059815    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031350  p.Val21Asp     Disease       rs200670692    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031351  p.Phe27Ser     Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031352  p.Gly70Glu     Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031353  p.Arg74Trp     Disease       rs201682634    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031354  p.Val86Ala     Disease       rs193929360    Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_031355  p.Gly111Arg    Disease       rs761749884    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031356  p.Ala116Pro    Disease       rs72559731     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031357  p.Met233Arg    Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031358  p.Asp310Asn    Disease       rs769569410    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031359  p.Cys418Arg    Disease       rs67254669     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031360  p.Arg495Gln    Disease       rs1420601296   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031361  p.Glu501Lys    Disease       rs372307320    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031362  p.Leu503Pro    Disease       rs1554933168   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031363  p.Leu508Pro    Disease       rs72559727     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031364  p.Pro551Arg    Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031365  p.Arg620Cys    Disease       rs58241708     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031366  p.Phe686Ser    Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031367  p.Lys719Thr    Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031368  p.Arg841Gly    Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031369  p.Lys889Thr    Disease       rs761862121    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031370  p.Ser956Phe    Disease       rs72559721     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031371  p.Thr1130Pro   Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031372  p.Leu1147Arg   Disease       rs1262517518   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031373  p.Arg1214Trp   Disease       rs139964066    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031374  p.Asn1295Lys   Disease       rs542157938    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031375  p.Lys1336Asn   Disease       rs67767715     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031376  p.Gly1342Glu   Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031377  p.Leu1349Gln   Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031378  p.Lys1384Gln   Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031379  p.Ser1386Phe   Disease       rs72559718     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031380  p.Gly1400Arg   Disease       rs137852676    Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_031380  p.Gly1400Arg   Disease       rs137852676    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031381  p.Arg1418His   Disease       rs1446306735   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031382  p.Leu1450Pro   Disease       rs1554904565   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031383  p.Ala1457Thr   Disease       rs72559717     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031384  p.Asp1471His   Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031385  p.Asp1471Asn   Disease       rs72559716     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031386  p.Arg1486Lys   Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031387  p.Arg1493Gln   Disease       rs746480424    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031388  p.Val1550Asp   Disease       rs1221760584   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031389  p.Leu1551Val   Disease       rs1320740169   Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072928  p.Pro45Leu     Disease       rs267606623    Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072929  p.Asn72Ser     Disease       rs80356634     Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072930  p.Val86Gly     Disease       rs193929360    Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072931  p.Phe132Val    Disease       rs80356637     Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072932  p.Pro207Ser    Disease       -              Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072933  p.Glu208Lys    Disease       -              Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072934  p.Asp209Glu    Disease       rs80356640     Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072935  p.Gln211Lys    Disease       rs193929366    Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072936  p.Leu225Pro    Disease       rs1048095      Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072937  p.Thr229Ile    Disease       rs768017509    Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072938  p.Tyr263Asp    Disease       rs778892038    Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072939  p.Glu382Lys    Disease       rs80356651     Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072940  p.Leu511Met    Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072941  p.Gly716Asp    Disease       rs72559723     Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072942  p.Glu824Lys    Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072943  p.Leu890Pro    Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072944  p.Ala1184Glu   Disease       rs137852675    Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072945  p.Glu1326Lys   Disease       rs200563930    Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_072946  p.Gly1378Ser   Disease       rs925231098    Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072947  p.Ser1388Tyr   Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072948  p.Leu1389Pro   Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072949  p.Ala1457Val   Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072950  p.Asn1480Ile   Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072951  p.Asp1505Glu   Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072952  p.Ile1511Ser   Disease       -              Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_072953  p.Val1522Leu   Disease       -              Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC9     O60706     VAR_018483  p.Ala1513Thr   Disease       rs72559751     Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569]
ABCC9     O60706     VAR_048143  p.Pro1108Ser   Polymorphism  rs35404804     -
ABCC9     O60706     VAR_066210  p.Thr1547Ile   Disease       rs387906805    Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050]
ABCC9     O60706     VAR_068485  p.His60Tyr     Disease       rs387907230    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068486  p.Asp207Glu    Disease       -              Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068487  p.Gly380Cys    Disease       rs1165205076   Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068488  p.Pro432Leu    Disease       -              Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068489  p.Ala478Val    Disease       rs387907211    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068490  p.Ser1020Pro   Disease       rs387907229    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068491  p.Phe1039Ser   Disease       -              Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068492  p.Cys1043Tyr   Disease       rs387907210    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068493  p.Ser1054Tyr   Disease       -              Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068494  p.Arg1116Cys   Disease       rs387907228    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068495  p.Arg1116His   Disease       rs387907227    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068496  p.Arg1154Gln   Disease       rs387907209    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068497  p.Arg1154Trp   Disease       rs387907208    Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCD1     P33897     VAR_000024  p.Ser98Leu     Disease       rs1557052294   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000025  p.Arg104Cys    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000026  p.Arg104His    Disease       rs1557052302   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000027  p.Thr105Ile    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000028  p.Leu107Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000029  p.Ser108Trp    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000030  p.Gly116Arg    Disease       rs398123110    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000033  p.Ala141Thr    Disease       rs193922097    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000034  p.Asn148Ser    Disease       rs128624216    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000035  p.Ser149Asn    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000036  p.Arg152Cys    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000037  p.Arg152Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000038  p.Arg163His    Disease       rs1057517954   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000039  p.Tyr174Asp    Disease       rs128624217    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000040  p.Tyr174Ser    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000041  p.Gln178Glu    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000042  p.Tyr181Cys    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000043  p.Arg182Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000044  p.Asp194His    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000045  p.Asp200Val    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000046  p.Leu211Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000047  p.Leu220Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000048  p.Asp221Gly    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000049  p.Thr254Met    Disease       rs1131691743   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000050  p.Thr254Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000051  p.Pro263Leu    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000052  p.Gly266Arg    Disease       rs128624218    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000053  p.Lys276Glu    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000054  p.Gly277Arg    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000056  p.Gly277Trp    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000057  p.Glu291Asp    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000058  p.Glu291Lys    Disease       rs128624213    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000060  p.Ala294Thr    Disease       rs1131691954   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000061  p.Ser342Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000062  p.Arg389Gly    Disease       rs128624215    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000063  p.Arg389His    Disease       rs886044777    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000064  p.Arg401Gln    Disease       rs128624219    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000065  p.Arg418Trp    Disease       rs128624220    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000066  p.Pro484Arg    Disease       rs128624214    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000067  p.Gly507Val    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000068  p.Gly512Ser    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000069  p.Ser515Phe    Disease       rs128624223    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000070  p.Arg518Gln    Disease       rs398123102    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000071  p.Arg518Trp    Disease       rs128624224    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000072  p.Gly522Trp    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000074  p.Pro534Leu    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000075  p.Pro560Leu    Disease       rs398123105    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000076  p.Pro560Arg    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000077  p.Met566Lys    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000078  p.Arg591Gln    Disease       rs1557054873   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000079  p.Ser606Leu    Disease       rs128624225    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000080  p.Ser606Pro    Disease       rs201774661    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000081  p.Glu609Gly    Disease       rs1557055260   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000082  p.Glu609Lys    Disease       rs150346282    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000083  p.Arg617Cys    Disease       rs4010613      Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000084  p.Arg617Gly    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000085  p.Arg617His    Disease       rs11146842     Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000086  p.Ala626Thr    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000087  p.Asp629His    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000089  p.Arg660Trp    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000090  p.Trp679Arg    Disease       rs1557055405   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009349  p.Glu90Lys     Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009350  p.Ser103Arg    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009351  p.Thr105Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009352  p.Ser108Leu    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009353  p.Arg113Cys    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009354  p.Pro143Ser    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009355  p.Arg152Leu    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009356  p.Arg152Ser    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009357  p.Ser161Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009358  p.Arg163Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009359  p.Tyr174Cys    Disease       rs1557052390   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009360  p.Arg189Trp    Disease       rs1131691916   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009361  p.Leu190Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009362  p.Thr198Lys    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009363  p.Asp200Asn    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009364  p.Ser213Cys    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009365  p.Asn214Asp    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009366  p.Pro218Thr    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009367  p.Leu229Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009368  p.Glu271Lys    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009369  p.Arg285Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009370  p.Tyr296Cys    Disease       rs797044610    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009371  p.Gly298Asp    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009372  p.Glu302Lys    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009373  p.Leu322Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009374  p.Lys336Met    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009375  p.Arg401Trp    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009376  p.Gly529Ser    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009377  p.Phe540Ser    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009378  p.Pro543Leu    Disease       rs1557054776   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009379  p.Gln544Arg    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009380  p.Ser552Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009381  p.Arg554His    Disease       rs201568579    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009382  p.Arg591Trp    Disease       rs398123106    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009383  p.Ala616Val    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009384  p.Glu630Gly    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009385  p.Cys631Tyr    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009386  p.Ser633Arg    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009387  p.Ser636Ile    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009388  p.Asp638Tyr    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009389  p.Ala646Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009390  p.Leu654Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009391  p.His667Asp    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009392  p.Thr668Ile    Disease       rs1557055398   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009393  p.Thr693Met    Disease       rs782311214    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013340  p.Asn13Thr     Polymorphism  rs183021839    -
ABCD1     P33897     VAR_013341  p.Ala99Asp     Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013342  p.Arg113Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013344  p.Lys217Glu    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013345  p.Val224Glu    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013346  p.Arg274Trp    Disease       rs782760033    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013347  p.Arg280Cys    Disease       rs193922098    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013349  p.Trp339Arg    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013350  p.Gly343Asp    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013352  p.Gln556Arg    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013353  p.Pro560Ser    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013354  p.Arg591Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013355  p.Gly608Asp    Disease       rs78993751     Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013356  p.Ala626Asp    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013357  p.Thr632Ile    Disease       rs1064793877   Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013358  p.Ser633Ile    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013359  p.Val635Met    Disease       rs201427153    Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013360  p.Arg660Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_023004  p.Cys88Trp     Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_023005  p.Gly343Ser    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_023006  p.Leu503Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_023007  p.Ser514Arg    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067240  p.Thr198Arg    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067241  p.Gly266Glu    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067242  p.Leu523Phe    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067243  p.Phe540Cys    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067244  p.Thr632Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067245  p.Glu640Lys    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067246  p.Gly677Asp    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067328  p.Leu516Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_067329  p.Arg660Gln    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_075284  p.Ala95Asp     Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_075285  p.Gln316Pro    Disease       -              Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD2     Q9UBJ2     VAR_062664  p.Gln244Lys    Unclassified  -              A pancreatic ductal adenocarcinoma sample
ABCD3     P28288     VAR_000091  p.Gly17Asp     Polymorphism  rs121917999    -
ABCD4     O14678     VAR_020222  p.Glu368Lys    Polymorphism  rs3742801      -
ABCD4     O14678     VAR_020778  p.Ala304Thr    Polymorphism  rs4148077      -
ABCD4     O14678     VAR_048134  p.Val172Ile    Polymorphism  rs34992370     -
ABCD4     O14678     VAR_048135  p.Thr350Arg    Polymorphism  rs35073715     -
ABCD4     O14678     VAR_069097  p.Tyr319Cys    Disease       rs201777056    Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]
ABCE1     P61221     VAR_068914  p.Ser489Cys    Polymorphism  rs3816497      -
ABCF1     Q8NE71     VAR_048136  p.Asn198Asp    Polymorphism  rs6902544      -
ABCF3     Q9NUQ8     VAR_027247  p.Pro503Leu    Polymorphism  rs11706273     -
ABCF3     Q9NUQ8     VAR_027248  p.Arg510His    Polymorphism  rs9811715      -
ABCG1     P45844     VAR_012279  p.Phe668Leu    Polymorphism  -              -
ABCG2     Q9UNQ0     VAR_018349  p.Phe431Leu    Polymorphism  -              -
ABCG2     Q9UNQ0     VAR_018350  p.Phe489Leu    Polymorphism  rs192169063    -
ABCG2     Q9UNQ0     VAR_020779  p.Val12Met     Polymorphism  rs2231137      -
ABCG2     Q9UNQ0     VAR_020780  p.Gln141Lys    Polymorphism  rs2231142      -
ABCG2     Q9UNQ0     VAR_022443  p.Thr316Pro    Polymorphism  -              -
ABCG2     Q9UNQ0     VAR_022704  p.Gln166Glu    Polymorphism  rs1061017      -
ABCG2     Q9UNQ0     VAR_022705  p.Ile206Leu    Polymorphism  rs12721643     -
ABCG2     Q9UNQ0     VAR_022706  p.Phe208Ser    Polymorphism  rs1061018      -
ABCG2     Q9UNQ0     VAR_022707  p.Ser248Pro    Polymorphism  rs3116448      -
ABCG2     Q9UNQ0     VAR_022708  p.Phe571Ile    Polymorphism  rs9282571      -
ABCG2     Q9UNQ0     VAR_022709  p.Asp620Asn    Polymorphism  rs34783571     -
ABCG2     Q9UNQ0     VAR_030357  p.Asp296His    Polymorphism  rs41282401     -
ABCG2     Q9UNQ0     VAR_030358  p.Ala528Thr    Polymorphism  rs45605536     -
ABCG2     Q9UNQ0     VAR_035355  p.Asn590Tyr    Polymorphism  rs34264773     -
ABCG2     Q9UNQ0     VAR_067363  p.Ser13Leu     Polymorphism  rs1319203095   -
ABCG2     Q9UNQ0     VAR_067364  p.Arg160Gln    Polymorphism  rs528655917    -
ABCG2     Q9UNQ0     VAR_067365  p.Gly354Arg    Polymorphism  rs138606116    -
ABCG2     Q9UNQ0     VAR_067366  p.Ser441Asn    Polymorphism  rs1354553769   -
ABCG4     Q9H172     VAR_048141  p.Pro352Leu    Polymorphism  rs35060365     -
ABCG5     Q9H222     VAR_012244  p.Glu146Gln    Disease       rs758551848    Sitosterolemia (STSL) [MIM:210250]
ABCG5     Q9H222     VAR_012245  p.Arg389His    Disease       rs119480069    Sitosterolemia (STSL) [MIM:210250]
ABCG5     Q9H222     VAR_012246  p.Arg419His    Disease       rs119479067    Sitosterolemia (STSL) [MIM:210250]
ABCG5     Q9H222     VAR_012247  p.Arg419Pro    Disease       rs119479067    Sitosterolemia (STSL) [MIM:210250]
ABCG5     Q9H222     VAR_012248  p.Arg550Ser    Disease       -              Sitosterolemia (STSL) [MIM:210250]
ABCG5     Q9H222     VAR_012249  p.Gln604Glu    Polymorphism  rs6720173      -
ABCG5     Q9H222     VAR_020781  p.Asn437Lys    Disease       rs575266356    Sitosterolemia (STSL) [MIM:210250]
ABCG5     Q9H222     VAR_020782  p.Ile523Val    Polymorphism  rs140899003    -
ABCG5     Q9H222     VAR_020783  p.Cys600Tyr    Polymorphism  rs779109455    -
ABCG5     Q9H222     VAR_020784  p.Met622Val    Polymorphism  rs140374206    -
ABCG5     Q9H222     VAR_033457  p.Thr517Ser    Polymorphism  rs17031672     -
ABCG5     Q9H222     VAR_048142  p.Arg50Cys     Polymorphism  rs6756629      -
ABCG8     Q9H221     VAR_012250  p.Asp19His     Polymorphism  rs11887534     -
ABCG8     Q9H221     VAR_012251  p.Tyr54Cys     Polymorphism  rs4148211      -
ABCG8     Q9H221     VAR_012252  p.Arg184His    Disease       rs766212636    Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012253  p.Pro231Thr    Disease       rs137852993    Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012254  p.Glu238Lys    Unclassified  rs34754243     Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012255  p.Ala259Val    Polymorphism  rs35518570     -
ABCG8     Q9H221     VAR_012256  p.Arg263Gln    Disease       rs137852990    Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012257  p.Thr400Lys    Polymorphism  rs4148217      -
ABCG8     Q9H221     VAR_012258  p.Arg405His    Disease       rs1177309800   Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012259  p.Leu501Pro    Disease       rs1233989408   Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012260  p.Arg543Ser    Disease       rs201690654    Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012262  p.Leu572Pro    Disease       rs769576789    Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012263  p.Gly574Glu    Disease       rs1325979386   Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012264  p.Gly574Arg    Disease       rs137852988    Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012265  p.Gly575Arg    Polymorphism  -              -
ABCG8     Q9H221     VAR_012266  p.Leu596Arg    Disease       rs137852992    Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012267  p.Val632Ala    Polymorphism  rs6544718      -
ABCG8     Q9H221     VAR_020785  p.Tyr641Phe    Polymorphism  rs145125968    -
ABCG8     Q9H221     VAR_022074  p.Val210Met    Polymorphism  rs9282574      -
ABCG8     Q9H221     VAR_022075  p.Met655Val    Polymorphism  rs9282573      -
ABHD1     Q96SE0     VAR_031087  p.Asp137Glu    Polymorphism  rs6715286      -
ABHD1     Q96SE0     VAR_031088  p.Trp371Cys    Polymorphism  rs2304678      -
ABHD1     Q96SE0     VAR_052484  p.Pro54Gln     Polymorphism  rs34127901     -
ABHD10    Q9NUJ1     VAR_031194  p.Ile251Val    Polymorphism  rs17429033     -
ABHD12    Q8N2K0     VAR_050630  p.Ala349Thr    Polymorphism  rs746748       -
ABHD12    Q8N2K0     VAR_081589  p.Arg186Pro    Unclassified  rs587777604    Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]
ABHD12    Q8N2K0     VAR_081590  p.Thr202Ile    Unclassified  -              Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]
ABHD12    Q8N2K0     VAR_081591  p.Thr253Arg    Disease       rs772987424    Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]
ABHD12    Q8N2K0     VAR_081593  p.His372Gln    Unclassified  rs587777602    Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]
ABHD12B   Q7Z5M8     VAR_019100  p.Phe334Leu    Polymorphism  rs7154732      -
ABHD12B   Q7Z5M8     VAR_035676  p.Ile282Val    Unclassified  rs28564871     A breast cancer sample
ABHD14A   Q9BUJ0     VAR_031390  p.Arg32Gln     Polymorphism  rs17849626     -
ABHD14A   Q9BUJ0     VAR_031391  p.Cys61Trp     Polymorphism  rs404527       -
ABHD15    Q6UXT9     VAR_045821  p.Thr334Ala    Polymorphism  rs542939       -
ABHD16B   Q9H3Z7     VAR_050920  p.Leu10Gln     Polymorphism  rs2281534      -
ABHD17B   Q5VST6     VAR_031230  p.Gln169Lys    Polymorphism  rs17854317     -
ABHD17B   Q5VST6     VAR_054080  p.Arg154Lys    Polymorphism  rs12380380     -
ABHD2     P08910     VAR_031203  p.Arg253Gln    Polymorphism  rs17851730     -
ABHD3     Q8WU67     VAR_031089  p.Arg3Cys      Polymorphism  rs17851878     -
ABHD5     Q8WTS1     VAR_023387  p.Glu7Lys      Disease       rs104893676    Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5     Q8WTS1     VAR_023388  p.Gln130Pro    Disease       rs28939077     Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5     Q8WTS1     VAR_023389  p.Glu260Lys    Disease       rs28939078     Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5     Q8WTS1     VAR_037574  p.Ile72Thr     Polymorphism  rs2302349      -
ABHD5     Q8WTS1     VAR_057953  p.His82Arg     Polymorphism  rs145548259    -
ABHD5     Q8WTS1     VAR_057954  p.Ser115Gly    Disease       -              Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD6     Q9BV23     VAR_081595  p.Arg113His    Polymorphism  rs200333190    -
ABHD6     Q9BV23     VAR_081596  p.Ser148Cys    Polymorphism  rs11544004     -
ABHD6     Q9BV23     VAR_081597  p.Pro204Leu    Polymorphism  rs199678322    -
ABHD6     Q9BV23     VAR_081598  p.Thr206Pro    Polymorphism  rs199696239    -
ABHD6     Q9BV23     VAR_081599  p.Gly231Val    Polymorphism  rs745824058    -
ABI1      Q8IZP0     VAR_048159  p.Gly331Ala    Polymorphism  rs2306236      -
ABI3      Q9P2A4     VAR_022030  p.Arg44Gln     Polymorphism  rs2233369      -
ABI3      Q9P2A4     VAR_060243  p.Ser203Phe    Polymorphism  rs616338       -
ABI3      Q9P2A4     VAR_060993  p.Phe209Ser    Polymorphism  rs616338       -
ABI3BP    Q7Z7G0     VAR_079855  p.Asp670Gly    Unclassified  -              -
ABL1      P00519     VAR_025043  p.Gly706Val    Polymorphism  rs34634745     -
ABL1      P00519     VAR_025044  p.Thr852Pro    Polymorphism  -              -
ABL1      P00519     VAR_025045  p.Pro900Ser    Polymorphism  rs35266696     -
ABL1      P00519     VAR_025046  p.Ser972Leu    Polymorphism  rs2229067      -
ABL1      P00519     VAR_032676  p.Arg47Gly     Unclassified  -              A lung large cell carcinoma sample
ABL1      P00519     VAR_032677  p.Arg166Lys    Unclassified  -              A melanoma sample
ABL1      P00519     VAR_032678  p.Pro810Leu    Polymorphism  rs2229071      -
ABL1      P00519     VAR_051692  p.Leu140Pro    Polymorphism  rs1064152      -
ABL1      P00519     VAR_051693  p.Lys247Arg    Polymorphism  rs34549764     -
ABL1      P00519     VAR_051694  p.Ser968Pro    Polymorphism  rs1064165      -
ABL1      P00519     VAR_079482  p.Tyr226Cys    Disease       rs1060499547   Congenital heart defects and skeletal malformations syndrome (CHDSKM) [MIM:617602]
ABL1      P00519     VAR_079483  p.Ala337Thr    Disease       rs1060499548   Congenital heart defects and skeletal malformations syndrome (CHDSKM) [MIM:617602]
ABL2      P42684     VAR_029232  p.Lys930Arg    Polymorphism  rs17277288     -
ABL2      P42684     VAR_029233  p.Val946Met    Polymorphism  rs28913889     -
ABL2      P42684     VAR_029234  p.Pro996Arg    Polymorphism  rs28913890     -
ABL2      P42684     VAR_029235  p.Ser1085Asn   Polymorphism  rs28913891     -
ABL2      P42684     VAR_029236  p.Thr1101Ala   Polymorphism  rs28913892     -
ABL2      P42684     VAR_055411  p.Arg78His     Polymorphism  rs55655202     -
ABL2      P42684     VAR_055412  p.Glu99Gln     Unclassified  -              -
ABL2      P42684     VAR_055413  p.Arg519Ile    Unclassified  -              -
ABL2      P42684     VAR_055414  p.Thr769Ser    Polymorphism  rs55892721     -
ABLIM1    O14639     VAR_050141  p.Pro434Thr    Polymorphism  rs11593544     -
ABLIM1    O14639     VAR_050142  p.Arg637Gly    Polymorphism  rs7091419      -
ABLIM2    Q6H8Q1     VAR_062665  p.Gly227Arg    Unclassified  rs757430763    A pancreatic ductal adenocarcinoma sample
ABLIM2    Q6H8Q1     VAR_062666  p.Lys274Met    Unclassified  -              A pancreatic ductal adenocarcinoma sample
ABLIM3    O94929     VAR_050143  p.Gly125Asp    Polymorphism  rs35907283     -
ABO       P16442     VAR_003409  p.Pro156Leu    Polymorphism  rs1053878      -
ABO       P16442     VAR_003410  p.Arg176Gly    Polymorphism  rs7853989      -
ABO       P16442     VAR_003411  p.Gly235Ser    Polymorphism  rs8176743      -
ABO       P16442     VAR_003412  p.Leu266Met    Polymorphism  rs8176746      -
ABO       P16442     VAR_003413  p.Gly268Ala    Polymorphism  rs8176747      -
ABO       P16442     VAR_003414  p.Arg352Trp    Polymorphism  -              -
ABO       P16442     VAR_019147  p.Gly35Arg     Polymorphism  rs8176696      -
ABO       P16442     VAR_019148  p.Val36Phe     Polymorphism  rs688976       -
ABO       P16442     VAR_019149  p.Arg63His     Polymorphism  rs549446       -
ABO       P16442     VAR_019150  p.Pro74Ser     Polymorphism  rs512770       -
ABO       P16442     VAR_019151  p.Arg161His    Polymorphism  rs8176738      -
ABO       P16442     VAR_019152  p.Arg199Cys    Polymorphism  rs8176739      -
ABO       P16442     VAR_019153  p.Phe216Ile    Polymorphism  rs8176740      -
ABO       P16442     VAR_019154  p.Val277Met    Polymorphism  rs8176748      -
ABO       P16442     VAR_033540  p.Pro257Leu    Polymorphism  rs8176745      -
ABO       P16442     VAR_033541  p.Gly268Arg    Polymorphism  rs41302905     -
ABO       P16442     VAR_036738  p.Thr163Met    Polymorphism  rs55756402     -
ABO       P16442     VAR_036739  p.Arg198Trp    Polymorphism  -              -
ABO       P16442     VAR_036740  p.Met214Arg    Polymorphism  -              -
ABO       P16442     VAR_036741  p.Glu223Asp    Polymorphism  -              -
ABO       P16442     VAR_036742  p.Met288Arg    Polymorphism  -              -
ABO       P16442     VAR_036743  p.Asp291Asn    Polymorphism  -              -
ABO       P16442     VAR_036744  p.Lys346Met    Polymorphism  -              -
ABO       P16442     VAR_036745  p.Arg352Gly    Polymorphism  -              -
ABO       P16442     VAR_055227  p.Gly230Arg    Unclassified  -              -
ABO       P16442     VAR_072628  p.Pro234Ala    Polymorphism  -              -
ABR       Q12979     VAR_057186  p.Lys517Arg    Polymorphism  rs34169260     -
ABRAXAS1  Q6UWZ7     VAR_030790  p.Ala239Thr    Polymorphism  rs752929794    -
ABRAXAS1  Q6UWZ7     VAR_054054  p.Ala348Thr    Polymorphism  rs12642536     -
ABRAXAS1  Q6UWZ7     VAR_054055  p.Asp373Asn    Polymorphism  rs13125836     -
ABRAXAS1  Q6UWZ7     VAR_071865  p.Arg361Gln    Disease       rs201627097    Breast cancer (BC) [MIM:114480]
ABTB2     Q8N961     VAR_022087  p.His250Gln    Polymorphism  rs1925368      -
ABTB2     Q8N961     VAR_024171  p.Thr918Ala    Polymorphism  rs2473928      -
ACAA1     P09110     VAR_011904  p.Glu172Asp    Polymorphism  rs156265       -
ACAA1     P09110     VAR_069148  p.Val387Ala    Polymorphism  rs2229528      -
ACAA2     P42765     VAR_052577  p.Met217Val    Polymorphism  rs11549285     -
ACACA     Q13085     VAR_028929  p.Ala2271Val   Polymorphism  rs146351326    -
ACACA     Q13085     VAR_036514  p.Arg1687Gln   Unclassified  rs1357271377   A colorectal cancer sample
ACACA     Q13085     VAR_042941  p.Arg838Trp    Polymorphism  rs2287351      -
ACACB     O00763     VAR_031255  p.Ile552Val    Polymorphism  rs16940029     -
ACACB     O00763     VAR_031256  p.Ala651Thr    Polymorphism  rs2300455      -
ACACB     O00763     VAR_031257  p.Val2141Ile   Polymorphism  rs2075260      -
ACACB     O00763     VAR_062667  p.Arg193Leu    Unclassified  -              A pancreatic ductal adenocarcinoma sample
ACAD10    Q6JQN1     VAR_031811  p.Gln200Arg    Polymorphism  rs35276160     -
ACAD10    Q6JQN1     VAR_031812  p.Thr216Pro    Polymorphism  rs35753710     -
ACAD10    Q6JQN1     VAR_031813  p.Asp463Asn    Polymorphism  rs36046440     -
ACAD10    Q6JQN1     VAR_031814  p.Ala880Val    Polymorphism  rs34245489     -
ACAD11    Q709F0     VAR_028826  p.Val362Leu    Polymorphism  rs6776576      -
ACAD8     Q9UKU7     VAR_035071  p.Met128Ile    Disease       rs374317179    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035072  p.Asp134Tyr    Disease       rs367857040    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035073  p.Gly137Arg    Disease       rs371449613    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035074  p.Met152Thr    Disease       rs121908418    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035075  p.Val203Ile    Disease       rs759877257    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035076  p.Arg302Gln    Disease       rs121908422    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035077  p.Ala320Thr    Disease       rs200620279    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035078  p.Arg334Cys    Disease       rs778823613    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035079  p.Gln385Arg    Disease       rs367996531    Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD9     Q9H845     VAR_033459  p.Arg477Gln    Polymorphism  rs4494951      -
ACAD9     Q9H845     VAR_071892  p.Phe44Ile     Disease       rs387907041    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071893  p.Arg127Lys    Disease       -              Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071894  p.Arg193Trp    Unclassified  rs377547811    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071895  p.Ala220Val    Disease       -              Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071896  p.Ser234Phe    Unclassified  -              Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071897  p.Arg266Gln    Disease       rs387907042    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071898  p.Gly303Ser    Unclassified  rs143383023    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071899  p.Ala326Thr    Unclassified  rs115532916    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071900  p.Glu413Lys    Unclassified  rs149753643    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071901  p.Arg414Cys    Disease       rs777282696    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071902  p.Arg417Cys    Disease       rs368949613    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071903  p.Arg469Trp    Disease       rs139145143    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071904  p.Arg518His    Disease       rs781149699    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_071905  p.Arg532Trp    Disease       rs377022708    Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_076177  p.Cys271Gly    Disease       -              Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_076178  p.Val384Met    Disease       rs1447947184   Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACAD9     Q9H845     VAR_076179  p.Leu606His    Disease       -              Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]
ACADL     P28330     VAR_000328  p.Ser303Thr    Polymorphism  rs1801204      -
ACADL     P28330     VAR_000329  p.Lys333Gln    Polymorphism  rs2286963      -
ACADM     P11310     VAR_000317  p.Arg53Cys     Disease       rs398123072    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000319  p.Met149Ile    Disease       rs121434277    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000320  p.Thr193Ala    Disease       rs121434279    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000321  p.Gly195Arg    Disease       rs121434278    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000322  p.Cys244Arg    Disease       rs121434276    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000323  p.Gly267Arg    Disease       rs121434274    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000324  p.Met326Thr    Disease       rs786204631    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000325  p.Lys329Glu    Disease       rs77931234     Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000326  p.Ser336Arg    Disease       -              Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000327  p.Ile375Thr    Disease       rs121434275    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_013698  p.Tyr67His     Disease       rs121434280    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_013699  p.Ser245Leu    Disease       rs121434281    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_013700  p.Arg281Thr    Disease       rs121434282    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015954  p.Ile78Thr     Disease       rs398123074    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015955  p.Cys116Tyr    Disease       rs875989859    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015956  p.Thr121Ile    Disease       rs121434283    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015957  p.Arg206Leu    Disease       rs200724875    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015958  p.Gly310Arg    Disease       rs747268471    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015959  p.Tyr352Cys    Disease       rs1227800781   Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_035716  p.Pro132Arg    Unclassified  rs875989854    A breast cancer sample
ACADS     P16219     VAR_000310  p.Arg46Trp     Disease       rs121908003    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_000311  p.Gly92Cys     Disease       rs121908004    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_000312  p.Arg107Cys    Disease       rs61732144     Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_000314  p.Trp177Arg    Disease       rs57443665     Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_000315  p.Gly209Ser    Polymorphism  rs1799958      -
ACADS     P16219     VAR_000316  p.Arg383Cys    Disease       rs28940872     Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013565  p.Gly90Ser     Disease       rs121908005    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013567  p.Arg171Trp    Polymorphism  rs1800556      -
ACADS     P16219     VAR_013568  p.Ala192Val    Disease       rs28940874     Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013569  p.Arg325Trp    Disease       rs121908006    Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013570  p.Ser353Leu    Disease       rs28941773     Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013571  p.Arg380Trp    Disease       rs28940875     Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_033458  p.Arg383His    Polymorphism  rs35233375     -
ACADSB    P45954     VAR_013010  p.Leu255Phe    Disease       rs137852649    Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]
ACADSB    P45954     VAR_014749  p.Ser209Gly    Polymorphism  rs1799823      -
ACADSB    P45954     VAR_048177  p.Arg13Lys     Polymorphism  rs12263012     -
ACADSB    P45954     VAR_048178  p.Ile316Val    Polymorphism  rs1131430      -
ACADSB    P45954     VAR_048179  p.Glu376Gly    Polymorphism  rs12357783     -
ACADVL    P49748     VAR_000330  p.Gly43Asp     Polymorphism  rs2230178      -
ACADVL    P49748     VAR_000332  p.Thr158Asn    Disease       -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000333  p.Gln159Arg    Disease       rs746688190    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000334  p.Val174Met    Disease       rs369560930    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000335  p.Gly185Ser    Disease       rs545215807    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000336  p.Glu218Lys    Disease       rs1432183079   Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000337  p.Leu243Arg    Disease       -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000338  p.Lys247Thr    Disease       -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000339  p.Thr260Met    Disease       rs113994168    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000341  p.Ala281Asp    Disease       -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000342  p.Val283Ala    Disease       rs113994167    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000343  p.Gly290Asp    Disease       rs866464446    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000344  p.Gly294Glu    Disease       rs200573371    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000345  p.Lys299Asn    Disease       rs774716484    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000347  p.Val317Ala    Disease       rs398123095    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000348  p.Met352Val    Disease       -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000349  p.Arg366Cys    Disease       rs771874163    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000350  p.Arg366His    Disease       rs112406105    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000352  p.Lys382Gln    Disease       rs118204015    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000353  p.Asp405His    Disease       -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000354  p.Gly441Asp    Disease       rs2309689      Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000355  p.Arg450His    Disease       rs118204016    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000356  p.Arg453Gln    Disease       rs138058572    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000357  p.Asp454Asn    Disease       rs1419606204   Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000358  p.Arg456His    Disease       rs794727112    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000359  p.Arg459Trp    Disease       rs766742117    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000360  p.Gly463Glu    Disease       rs200366828    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000361  p.Arg469Gln    Disease       rs398123083    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000362  p.Arg469Trp    Disease       rs113994170    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000363  p.Leu502Pro    Disease       -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000364  p.Leu602Ile    Disease       -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000365  p.Arg613Trp    Disease       rs118204014    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010101  p.Ala213Pro    Disease       rs140629318    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010102  p.Lys247Glu    Disease       -              Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010103  p.Phe458Leu    Disease       rs118204017    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010104  p.Ala490Pro    Disease       rs759775666    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010105  p.Glu534Lys    Unclassified  rs2230180      Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010106  p.Arg615Gln    Disease       rs148584617    Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_011990  p.Ala359Ser    Polymorphism  rs1051701      -
ACADVL    P49748     VAR_011991  p.Ser623Phe    Polymorphism  rs13383        -
ACADVL    P49748     VAR_029286  p.Leu17Phe     Polymorphism  rs2230179      -
ACADVL    P49748     VAR_048176  p.Pro65Leu     Polymorphism  rs28934585     -
ACAN      P16112     VAR_056152  p.Asp102Glu    Polymorphism  rs16942318     -
ACAN      P16112     VAR_056153  p.Arg275Gln    Polymorphism  rs34949187     -
ACAN      P16112     VAR_056154  p.Pro2058Leu   Polymorphism  rs35061438     -
ACAN      P16112     VAR_056155  p.Ser2120Arg   Polymorphism  rs34153007     -
ACAN      P16112     VAR_063053  p.Asp2381Asn   Disease       rs121913568    Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG) [MIM:612813]
ACAN      P16112     VAR_063765  p.Val2418Met   Disease       rs779794758    Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) [MIM:165800]
ACAN      P16112     VAR_080159  p.Pro864Leu    Polymorphism  rs3743398      -
ACAN      P16112     VAR_080160  p.Pro913Thr    Polymorphism  rs35430524     -
ACAN      P16112     VAR_080161  p.Ser930Ile    Polymorphism  rs938608       -
ACAN      P16112     VAR_080162  p.Ser939Thr    Polymorphism  rs938609       -
ACAN      P16112     VAR_080163  p.Thr1080Ala   Polymorphism  rs373544100    -
ACAN      P16112     VAR_080164  p.Thr1403Ala   Polymorphism  rs12899191     -
ACAN      P16112     VAR_080165  p.Glu1508Ala   Polymorphism  rs2882676      -
ACAN      P16112     VAR_080166  p.Ile1765Val   Polymorphism  rs4932439      -
ACAN      P16112     VAR_080167  p.Ile2079Val   Polymorphism  rs1042630      -
ACAN      P16112     VAR_080168  p.Asp2373Glu   Polymorphism  rs3817428      -
ACAN      P16112     VAR_080169  p.Gln2500Arg   Polymorphism  rs1126823      -
ACAP1     Q15027     VAR_036178  p.Lys114Arg    Unclassified  rs759855054    A breast cancer sample
ACAP1     Q15027     VAR_036179  p.Arg129Gln    Unclassified  rs754740225    A colorectal cancer sample
ACAP1     Q15027     VAR_048328  p.Arg68Cys     Polymorphism  rs35933585     -
ACAP1     Q15027     VAR_048329  p.Arg533Trp    Polymorphism  rs35019942     -
ACAT1     P24752     VAR_007496  p.Ala5Pro      Polymorphism  rs3741056      -
ACAT1     P24752     VAR_007498  p.Asn93Ser     Disease       rs120074145    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007499  p.Gly152Ala    Disease       rs762991875    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007500  p.Asn158Asp    Disease       rs148639841    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007501  p.Gly183Arg    Disease       rs120074141    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007502  p.Thr297Met    Disease       rs886041122    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007503  p.Ala301Pro    Disease       rs1420321267   3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007504  p.Ile312Thr    Disease       rs120074146    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007505  p.Ala333Pro    Disease       rs120074147    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007506  p.Gly379Val    Disease       rs120074143    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007507  p.Ala380Thr    Disease       rs120074140    3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT2     Q9BWD1     VAR_019686  p.Lys211Arg    Polymorphism  rs25683        -
ACBD3     Q9H3P7     VAR_019615  p.Glu187Asp    Polymorphism  rs2306120      -
ACBD4     Q8NC06     VAR_055478  p.Pro118Leu    Polymorphism  rs901754       -
ACBD4     Q8NC06     VAR_059109  p.Arg242Gly    Polymorphism  rs16939879     -
ACBD5     Q5T8D3     VAR_032301  p.Thr472Met    Polymorphism  rs7918793      -
ACCS      Q96QU6     VAR_038685  p.Gly221Glu    Unclassified  rs35514614     A breast cancer sample
ACCS      Q96QU6     VAR_038686  p.Ser393Leu    Unclassified  -              A breast cancer sample
ACCS      Q96QU6     VAR_038687  p.Pro421Leu    Polymorphism  rs3107275      -
ACCS      Q96QU6     VAR_048227  p.Asp59Asn     Polymorphism  rs33952257     -
ACCS      Q96QU6     VAR_048228  p.Asp134Glu    Polymorphism  rs2018795      -
ACCSL     Q4AC99     VAR_060626  p.Cys529Arg    Polymorphism  rs2074051      -
ACD       Q96AP0     VAR_060224  p.Thr215Met    Polymorphism  rs72547495     -
ACD       Q96AP0     VAR_060225  p.Val432Ala    Polymorphism  rs6979         -
ACD       Q96AP0     VAR_075694  p.Pro405Thr    Disease       rs201441120    Dyskeratosis congenita, autosomal recessive, 7 (DKCB7) [MIM:616553]
ACE       P12821     VAR_011707  p.Ala261Ser    Polymorphism  rs4303         -
ACE       P12821     VAR_011708  p.Arg561Trp    Polymorphism  rs4314         -
ACE       P12821     VAR_011709  p.Arg1286Ser   Polymorphism  rs4364         -
ACE       P12821     VAR_014189  p.Ile1018Thr   Polymorphism  rs4976         -
ACE       P12821     VAR_014190  p.Phe1051Val   Polymorphism  rs4977         -
ACE       P12821     VAR_014191  p.Arg1279Gln   Polymorphism  rs4980         -
ACE       P12821     VAR_014192  p.Gln1296Pro   Polymorphism  rs4981         -
ACE       P12821     VAR_020053  p.Asp592Gly    Polymorphism  rs12709426     -
ACE       P12821     VAR_023430  p.Tyr244Cys    Polymorphism  rs3730025      -
ACE       P12821     VAR_023431  p.Pro351Leu    Polymorphism  rs2229839      -
ACE       P12821     VAR_023432  p.Thr916Met    Polymorphism  rs3730043      -
ACE       P12821     VAR_023433  p.Thr1187Met   Polymorphism  rs12709442     -
ACE       P12821     VAR_023434  p.Pro1228Leu   Polymorphism  rs121912703    -
ACE       P12821     VAR_029139  p.Ala154Thr    Polymorphism  rs13306087     -
ACE       P12821     VAR_029140  p.Ala183Thr    Polymorphism  rs12720754     -
ACE       P12821     VAR_029141  p.Arg379Gln    Polymorphism  rs13306085     -
ACE       P12821     VAR_029142  p.Val524Ala    Polymorphism  rs12720746     -
ACE       P12821     VAR_034602  p.Met828Thr    Polymorphism  rs13306091     -
ACE       P12821     VAR_035434  p.Gly354Arg    Polymorphism  rs56394458     -
ACE       P12821     VAR_054000  p.Arg260Cys    Polymorphism  rs4302         -
ACE       P12821     VAR_054001  p.Arg260Leu    Polymorphism  rs4303         -
ACE       P12821     VAR_074173  p.Asp295Asn    Polymorphism  rs989500910    -
ACE2      Q9BYF1     VAR_023082  p.Lys26Arg     Polymorphism  rs4646116      -
ACE2      Q9BYF1     VAR_023083  p.Asn638Ser    Polymorphism  rs183135788    -
ACER2     Q5QJU3     VAR_027150  p.Ala134Val    Polymorphism  rs10964136     -
ACER3     Q9NUN7     VAR_081205  p.Glu33Gly     Disease       rs1554988032   Leukodystrophy, progressive, early childhood-onset (PLDECO) [MIM:617762]
ACHE      P22303     VAR_002359  p.His353Asn    Polymorphism  rs1799805      -
ACHE      P22303     VAR_011934  p.Val333Glu    Polymorphism  rs8286         -
ACHE      P22303     VAR_021325  p.Arg34Gln     Polymorphism  rs17881553     -
ACHE      P22303     VAR_021326  p.Pro135Ala    Polymorphism  rs17885778     -
ACIN1     Q9UKV3     VAR_022031  p.Ile311Met    Polymorphism  rs3811182      -
ACIN1     Q9UKV3     VAR_022032  p.Ser467Pro    Polymorphism  rs1885097      -
ACIN1     Q9UKV3     VAR_022033  p.Ser478Phe    Polymorphism  rs3751501      -
ACIN1     Q9UKV3     VAR_035777  p.Arg1160Gln   Unclassified  rs754494408    A colorectal cancer sample
ACIN1     Q9UKV3     VAR_050632  p.Arg257Lys    Polymorphism  rs11555803     -
ACIN1     Q9UKV3     VAR_061547  p.Ala447Pro    Polymorphism  rs941719       -
ACKR1     Q16570     VAR_003480  p.Gly42Asp     Polymorphism  rs12075        -
ACKR1     Q16570     VAR_015068  p.Arg89Cys     Polymorphism  rs34599082     -
ACKR1     Q16570     VAR_015069  p.Ala100Thr    Polymorphism  rs13962        -
ACKR1     Q16570     VAR_044116  p.Leu203Gln    Polymorphism  rs3027020      -
ACKR1     Q16570     VAR_044117  p.Ser326Phe    Polymorphism  rs17851570     -
ACKR2     O00590     VAR_024252  p.Tyr373Ser    Polymorphism  rs2228468      -
ACKR2     O00590     VAR_049379  p.Val41Ala     Polymorphism  rs2228467      -
ACKR2     O00590     VAR_049380  p.Ala248Val    Polymorphism  rs2228469      -
ACKR2     O00590     VAR_049381  p.Leu311Val    Polymorphism  rs6779520      -
ACKR3     P25106     VAR_027477  p.Leu219Trp    Polymorphism  rs10183641     -
ACLY      P53396     VAR_028230  p.Glu175Asp    Polymorphism  rs2304497      -
ACO1      P21399     VAR_048180  p.Ala395Asp    Polymorphism  rs3814519      -
ACO1      P21399     VAR_048181  p.Gly486Arg    Polymorphism  rs34630459     -
ACO1      P21399     VAR_069413  p.Thr318Met    Polymorphism  rs150373174    -
ACO2      Q99798     VAR_033297  p.Ala768Ser    Polymorphism  rs1804785      -
ACO2      Q99798     VAR_036572  p.Thr697Asn    Unclassified  -              A breast cancer sample
ACO2      Q99798     VAR_067543  p.Ser112Arg    Disease       rs786200924    Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]
ACO2      Q99798     VAR_073435  p.Leu74Val     Disease       rs141772938    Optic atrophy 9 (OPA9) [MIM:616289]
ACO2      Q99798     VAR_073436  p.Gly259Asp    Disease       rs786204828    Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]
ACO2      Q99798     VAR_073437  p.Gly661Arg    Disease       rs752034900    Optic atrophy 9 (OPA9) [MIM:616289]
ACO2      Q99798     VAR_073438  p.Lys736Asn    Disease       rs786204829    Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]
ACOT1     Q86TX2     VAR_059830  p.Arg266His    Polymorphism  rs1049568      -
ACOT11    Q8WXI4     VAR_022119  p.Pro165Leu    Polymorphism  rs2304306      -
ACOT11    Q8WXI4     VAR_022120  p.Gly202Asp    Polymorphism  rs1702003      -
ACOT11    Q8WXI4     VAR_022121  p.Met212Ile    Polymorphism  rs2304305      -
ACOT11    Q8WXI4     VAR_048190  p.Arg11Trp     Polymorphism  rs34630746     -
ACOT11    Q8WXI4     VAR_048191  p.Arg536His    Polymorphism  rs12403630     -
ACOT12    Q8WYK0     VAR_048192  p.Val230Ile    Polymorphism  rs34607174     -
ACOT12    Q8WYK0     VAR_048193  p.Ala403Thr    Polymorphism  rs10371        -
ACOT12    Q8WYK0     VAR_064691  p.Leu190His    Unclassified  -              -
ACOT2     P49753     VAR_016136  p.His475Arg    Polymorphism  rs7494         -
ACOT2     P49753     VAR_057271  p.Arg16Ser     Polymorphism  rs11545741     -
ACOT4     Q8N9L9     VAR_052300  p.Arg57Cys     Polymorphism  rs3742819      -
ACOT4     Q8N9L9     VAR_052301  p.Ala187Asp    Polymorphism  rs35724886     -
ACOT6     Q3I5F7     VAR_052302  p.Glu166Lys    Polymorphism  rs17782052     -
ACOT9     Q9Y305     VAR_062668  p.Asn305His    Unclassified  -              A pancreatic ductal adenocarcinoma sample
ACOX1     Q15067     VAR_021529  p.Ile312Met    Polymorphism  rs1135640      -
ACOX1     Q15067     VAR_025789  p.Gly178Cys    Disease       rs118204091    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_025790  p.Met278Val    Disease       rs118204090    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_030619  p.Thr153Ile    Polymorphism  rs17855420     -
ACOX1     Q15067     VAR_048182  p.Gly101Ser    Polymorphism  rs3744032      -
ACOX1     Q15067     VAR_067041  p.Ser184Leu    Disease       rs780887410    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_067042  p.Gly231Val    Disease       -              Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_067043  p.Gln309Arg    Disease       rs118204092    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_067044  p.Ser310Pro    Disease       rs758962364    Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX2     Q99424     VAR_078765  p.Arg225Trp    Disease       rs150832314    Congenital bile acid synthesis defect 6 (CBAS6) [MIM:617308]
ACOX3     O15254     VAR_030802  p.Glu34Ala     Polymorphism  rs12513296     -
ACOX3     O15254     VAR_030803  p.Asp497Asn    Polymorphism  rs13434465     -
ACOXL     Q9NUZ1     VAR_035164  p.Thr255Met    Polymorphism  rs1554005      -
ACOXL     Q9NUZ1     VAR_035165  p.Pro535Leu    Polymorphism  rs17041850     -
ACP1      P24666     VAR_006171  p.Gln106Arg    Polymorphism  rs79716074     -
ACP1      P24666     VAR_050526  p.Lys7Asn      Polymorphism  rs11691572     -
ACP1      P24666     VAR_050527  p.Ser137Phe    Polymorphism  rs35569198     -
ACP2      P11117     VAR_027801  p.Arg29Gln     Polymorphism  rs2167079      -
ACP2      P11117     VAR_034394  p.Ser320Phe    Polymorphism  rs34425282     -
ACP2      P11117     VAR_050519  p.Val402Ile    Polymorphism  rs4647764      -
ACP4      Q9BZG2     VAR_078014  p.Arg76Cys     Disease       rs1057519277   Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
ACP4      Q9BZG2     VAR_078015  p.Arg111Cys    Disease       rs202073531    Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
ACP4      Q9BZG2     VAR_078016  p.Ala128Pro    Unclassified  rs767907487    Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
ACP4      Q9BZG2     VAR_078017  p.Glu133Lys    Unclassified  rs779823931    Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
ACP4      Q9BZG2     VAR_078018  p.Ser238Leu    Disease       rs763573828    Amelogenesis imperfecta 1J (AI1J) [MIM:617297]
ACP5      P13686     VAR_020602  p.Val148Met    Polymorphism  rs2305799      -
ACP5      P13686     VAR_020603  p.Val200Met    Polymorphism  rs2229531      -
ACP5      P13686     VAR_029288  p.Val221Ile    Polymorphism  rs2229532      -
ACP5      P13686     VAR_065920  p.Lys52Met     Disease       -              Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065921  p.Thr89Ile     Disease       rs387906668    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065922  p.Gly109Arg    Disease       rs781050795    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065923  p.Leu201Pro    Disease       rs387906672    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065924  p.Gly215Arg    Disease       rs781199182    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065925  p.Asp241Asn    Disease       -              Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065926  p.Asn262His    Disease       rs1449857485   Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065927  p.Met264Lys    Disease       rs387906670    Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP6      Q9NPH0     VAR_022678  p.Met316Val    Polymorphism  rs6593795      -
ACPP      P15309     VAR_047960  p.Ser15Asn     Polymorphism  rs17850347     -
ACPP      P15309     VAR_047961  p.Phe124Val    Polymorphism  rs17856254     -
ACPP      P15309     VAR_047962  p.Trp226Arg    Polymorphism  rs17856253     -
ACPP      P15309     VAR_047963  p.Tyr330His    Polymorphism  rs17851392     -
ACPP      P15309     VAR_047964  p.Val360Ala    Polymorphism  rs17850198     -
ACR       P10323     VAR_011650  p.Leu120Val    Polymorphism  rs1064734      -
ACR       P10323     VAR_011651  p.Phe166Leu    Polymorphism  rs1064735      -
ACRBP     Q8NEB7     VAR_050633  p.Thr336Ala    Polymorphism  rs3741923      -
ACRV1     P26436     VAR_050680  p.Gly126Arg    Polymorphism  rs34788353     -
ACSBG1    Q96GR2     VAR_038314  p.Glu194Val    Polymorphism  rs12899901     -
ACSBG1    Q96GR2     VAR_038315  p.Met633Val    Polymorphism  rs2304824      -
ACSBG1    Q96GR2     VAR_038316  p.Ala673Val    Polymorphism  rs11072735     -
ACSBG2    Q5FVE4     VAR_038317  p.Val143Ala    Polymorphism  rs4807840      -
ACSBG2    Q5FVE4     VAR_038318  p.Lys152Arg    Polymorphism  rs33937754     -
ACSBG2    Q5FVE4     VAR_038319  p.Gly584Asp    Polymorphism  rs17851959     -
ACSBG2    Q5FVE4     VAR_038320  p.Gly586Asp    Polymorphism  rs17851960     -
ACSBG2    Q5FVE4     VAR_038321  p.Pro601Arg    Polymorphism  rs35609668     -
ACSBG2    Q5FVE4     VAR_038322  p.Arg624Lys    Polymorphism  rs17856650     -
ACSBG2    Q5FVE4     VAR_038323  p.Glu626Gln    Polymorphism  rs17856651     -
ACSBG2    Q5FVE4     VAR_038324  p.Arg650Ser    Polymorphism  rs35605352     -
ACSF2     Q96CM8     VAR_038304  p.Gly75Val     Polymorphism  rs17856448     -
ACSF2     Q96CM8     VAR_038305  p.Val316Met    Polymorphism  rs3744523      -
ACSF3     Q4G176     VAR_038306  p.Leu2Pro      Polymorphism  rs7188200      -
ACSF3     Q4G176     VAR_038307  p.Ala17Pro     Polymorphism  rs11547019     -
ACSF3     Q4G176     VAR_038308  p.Val372Met    Polymorphism  rs3743979      -
ACSF3     Q4G176     VAR_066504  p.Met198Arg    Disease       rs387907121    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066505  p.Pro243Leu    Disease       rs140986055    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066506  p.Thr358Ile    Disease       rs387907120    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066507  p.Glu359Lys    Disease       rs150487794    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066508  p.Lys462Thr    Disease       rs1362504214   Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066510  p.Arg471Gln    Disease       rs387907119    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066511  p.Arg471Trp    Disease       rs138680796    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066512  p.Gly480Ser    Disease       -              Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066513  p.Arg558Trp    Disease       rs141090143    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSL3     O95573     VAR_026716  p.Phe551Ser    Polymorphism  rs1046032      -
ACSL4     O60488     VAR_013180  p.Arg570Ser    Disease       rs122458138    Mental retardation, X-linked 63 (MRX63) [MIM:300387]
ACSL4     O60488     VAR_036376  p.Arg133Cys    Unclassified  rs753267653    A colorectal cancer sample
ACSL5     Q9ULC5     VAR_022117  p.Met182Val    Polymorphism  rs3736946      -
ACSL5     Q9ULC5     VAR_036377  p.Lys388Arg    Unclassified  -              A colorectal cancer sample
ACSL5     Q9ULC5     VAR_036378  p.Gly466Asp    Unclassified  -              A colorectal cancer sample
ACSL5     Q9ULC5     VAR_048240  p.Thr486Ala    Polymorphism  rs12254915     -
ACSM1     Q08AH1     VAR_035245  p.Ile479Val    Polymorphism  rs8056709      -
ACSM1     Q08AH1     VAR_035246  p.Ile515Thr    Polymorphism  rs16970453     -
ACSM1     Q08AH1     VAR_048238  p.Ile272Met    Polymorphism  rs16970511     -
ACSM2A    Q08AH3     VAR_035247  p.Ser513Leu    Polymorphism  rs1133607      -
ACSM2A    Q08AH3     VAR_035248  p.Ala561Thr    Polymorphism  rs1054977      -
ACSM2A    Q08AH3     VAR_058692  p.Val335Leu    Polymorphism  rs4643305      -
ACSM2A    Q08AH3     VAR_058694  p.Val337Gly    Polymorphism  rs4586421      -
ACSM3     Q53FZ2     VAR_035249  p.Leu100Pro    Polymorphism  rs5713         -
ACSM3     Q53FZ2     VAR_035250  p.Pro308Thr    Polymorphism  rs7196188      -
ACSM3     Q53FZ2     VAR_035251  p.Lys367Asn    Polymorphism  rs5716         -
ACSM3     Q53FZ2     VAR_048239  p.Asp270His    Polymorphism  rs13306603     -
ACSM4     P0C7M7     VAR_061010  p.Arg481His    Polymorphism  rs61584783     -
ACSM5     Q6NUN0     VAR_035252  p.Gln159His    Polymorphism  rs559741756    -
ACSM5     Q6NUN0     VAR_035253  p.Pro352Arg    Polymorphism  rs8062344      -
ACSM5     Q6NUN0     VAR_035254  p.His360Arg    Polymorphism  rs12931877     -
ACSM5     Q6NUN0     VAR_035255  p.Thr533Met    Polymorphism  rs554734865    -
ACSM5     Q6NUN0     VAR_055495  p.Arg65Gln     Polymorphism  rs9928053      -
ACSM5     Q6NUN0     VAR_055496  p.Glu182Lys    Polymorphism  rs7192210      -
ACSM5     Q6NUN0     VAR_061011  p.Met217Val    Polymorphism  rs59025904     -
ACSM6     Q6P461     VAR_043606  p.Lys227Arg    Polymorphism  rs7090248      -
ACSM6     Q6P461     VAR_063090  p.Glu19Gly     Polymorphism  rs591157       -
ACSM6     Q6P461     VAR_063091  p.Cys40Ser     Polymorphism  rs11188225     -
ACSS1     Q9NUB1     VAR_048184  p.Val488Met    Polymorphism  rs6050249      -
ACTA1     P68133     VAR_011680  p.Gly17Arg     Disease       rs121909521    Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
ACTA1     P68133     VAR_011681  p.Leu96Pro     Disease       rs121909519    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011682  p.Asn117Ser    Disease       rs121909520    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011683  p.Ile138Met    Disease       rs121909526    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011684  p.Val165Leu    Disease       rs121909522    Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
ACTA1     P68133     VAR_011685  p.Glu261Val    Disease       rs121909523    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011686  p.Gly270Cys    Disease       rs121909525    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011687  p.Val372Phe    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_013470  p.Met134Val    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_013471  p.Met271Arg    Disease       rs1553255360   Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015579  p.His42Tyr     Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015580  p.Gly184Asp    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015581  p.Arg185Gly    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015582  p.Arg185Cys    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015583  p.Arg258His    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015584  p.Gln265Leu    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015585  p.Asn282Lys    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015586  p.Asp288Gly    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015587  p.Ile359Leu    Disease       rs121909524    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_032917  p.Leu223Pro    Disease       rs121909530    Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1     P68133     VAR_032918  p.Asp294Val    Disease       rs121909529    Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1     P68133     VAR_032919  p.Pro334Ser    Disease       rs121909531    Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1     P68133     VAR_062424  p.Asp3Tyr      Disease       rs121909527    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062425  p.Asp27Asn     Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062426  p.Val37Leu     Disease       rs1553255521   Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062427  p.Pro40Leu     Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062428  p.Gln43Arg     Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062429  p.Gly44Val     Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062430  p.Val45Phe     Disease       rs398123562    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062431  p.Ile66Asn     Disease       rs1553255502   Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062432  p.Thr68Ile     Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062433  p.Glu74Lys     Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062434  p.His75Leu     Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062435  p.His75Arg     Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062436  p.Ile77Leu     Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062437  p.Thr79Ala     Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062438  p.Glu85Lys     Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062439  p.Ala116Thr    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062440  p.Asn117Thr    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062441  p.Arg118His    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062442  p.Val136Ala    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062443  p.Ala140Pro    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062444  p.Leu142Pro    Disease       rs1553255482   Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062445  p.Gly148Asp    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062446  p.Thr150Asn    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062447  p.Asp156Asn    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062448  p.Val165Met    Disease       rs121909522    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062449  p.Ala172Gly    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062450  p.Asp181Gly    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062451  p.Asp181His    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062452  p.Asp181Asn    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062453  p.Arg185Asp    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062454  p.Arg185Ser    Disease       rs1064794287   Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062455  p.Arg198Leu    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062456  p.Gly199Ser    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062457  p.Glu226Gly    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062458  p.Glu226Gln    Disease       rs1057521118   Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062459  p.Asn227Val    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062460  p.Met229Ile    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062461  p.Met229Thr    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062462  p.Met229Val    Disease       rs794727714    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062463  p.Glu243Lys    Disease       rs367543051    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062464  p.Gln248Lys    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062465  p.Gln248Arg    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062466  p.Gly253Asp    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062467  p.Arg258Leu    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062468  p.Gly270Asp    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062469  p.Gly270Arg    Disease       rs121909525    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062470  p.Ala274Glu    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062471  p.Tyr281His    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062472  p.Met285Lys    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062473  p.Glu336Ala    Disease       rs121909528    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062474  p.Lys338Glu    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062475  p.Lys338Ile    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062476  p.Ser350Leu    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062477  p.Arg374Ser    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062478  p.Lys375Glu    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062479  p.Lys375Gln    Disease       -              Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_076426  p.Glu197Asp    Disease       rs869312739    Myopathy, scapulohumeroperoneal (SHPM) [MIM:616852]
ACTA1     P68133     VAR_076427  p.Lys328Asn    Disease       rs398122936    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_076428  p.Trp358Cys    Disease       rs587777354    Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA2     P62736     VAR_011944  p.Thr196Ser    Polymorphism  rs1803028      -
ACTA2     P62736     VAR_011945  p.Thr320Ala    Polymorphism  rs1803027      -
ACTA2     P62736     VAR_011946  p.His373Pro    Polymorphism  rs1062398      -
ACTA2     P62736     VAR_045915  p.Asn117Thr    Disease       -              Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045916  p.Arg118Gln    Disease       rs112602953    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045917  p.Tyr135His    Disease       rs751300489    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045918  p.Arg149Cys    Disease       rs121434526    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045919  p.Val154Ala    Disease       rs1554841298   Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045920  p.Arg258Cys    Disease       rs121434528    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045921  p.Arg258His    Disease       rs121434527    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045922  p.Arg292Gly    Disease       -              Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045923  p.Thr353Asn    Disease       -              Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_062577  p.Arg39His     Disease       rs794728021    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_062578  p.Tyr145Cys    Disease       -              Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_062579  p.Arg185Gln    Disease       rs1057521105   Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_062580  p.Arg212Gln    Disease       rs397516685    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_062581  p.Thr326Asn    Disease       rs777832794    Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_064516  p.Arg179His    Disease       rs387906592    Moyamoya disease 5 (MYMY5) [MIM:614042]
ACTA2     P62736     VAR_064516  p.Arg179His    Disease       rs387906592    Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]
ACTB      P60709     VAR_030026  p.Arg183Trp    Disease       rs104894003    Dystonia, juvenile-onset (DJO) [MIM:607371]
ACTB      P60709     VAR_048185  p.Pro243Leu    Polymorphism  rs11546899     -
ACTB      P60709     VAR_067810  p.Asn12Asp     Disease       rs281875331    Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
ACTB      P60709     VAR_067811  p.Leu65Val     Disease       rs281875332    Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
ACTB      P60709     VAR_067812  p.Arg196Cys    Disease       rs281875333    Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
ACTB      P60709     VAR_067813  p.Arg196His    Disease       rs281875334    Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
ACTC1     P68032     VAR_012857  p.Glu101Lys    Disease       rs193922680    Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_012858  p.Pro166Ala    Disease       rs267606628    Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_012859  p.Ala297Ser    Disease       rs121912675    Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_012860  p.Arg314His    Disease       rs121912673    Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]
ACTC1     P68032     VAR_012861  p.Ala333Pro    Disease       rs267606629    Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_012862  p.Glu363Gly    Disease       rs121912674    Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]
ACTC1     P68032     VAR_045924  p.His90Tyr     Disease       rs121912676    Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_045925  p.Arg97Cys     Disease       rs759495229    Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_046502  p.Met125Val    Disease       rs121912677    Atrial septal defect 5 (ASD5) [MIM:612794]
ACTC1     P68032     VAR_046503  p.Tyr168Cys    Disease       -              Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_046504  p.Met307Leu    Disease       -              Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTG1     P63261     VAR_032434  p.Thr89Ile     Disease       rs28999111     Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032435  p.Lys118Met    Disease       rs104894544    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032436  p.Pro264Leu    Disease       rs104894546    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032437  p.Thr278Ile    Disease       rs28999112     Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032438  p.Pro332Ala    Disease       rs104894545    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032439  p.Val370Ala    Disease       rs104894547    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_048186  p.Thr160Ile    Polymorphism  rs11549206     -
ACTG1     P63261     VAR_067814  p.Thr120Ile    Disease       rs281875325    Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1     P63261     VAR_067815  p.Ala135Val    Disease       rs11549190     Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1     P63261     VAR_067816  p.Ser155Phe    Disease       rs281875326    Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1     P63261     VAR_067817  p.Thr203Lys    Disease       rs281875327    Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1     P63261     VAR_067818  p.Arg254Trp    Disease       rs281875328    Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1     P63261     VAR_067819  p.Arg256Trp    Disease       rs281875329    Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
ACTG1     P63261     VAR_067824  p.Lys118Asn    Disease       rs267606630    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_067825  p.Ile122Val    Disease       rs281875330    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_067826  p.Glu241Lys    Disease       rs267606631    Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_079849  p.Pro70Leu     Unclassified  -              -
ACTG1     P63261     VAR_079878  p.Asp187His    Disease       -              Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_079879  p.Glu316Lys    Unclassified  -              Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG2     P63267     VAR_071279  p.Arg40Cys     Disease       rs587777385    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071280  p.Arg40His     Disease       rs587777386    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071281  p.Met45Thr     Disease       rs864309490    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071282  p.Arg63Gly     Disease       rs864309491    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071283  p.Pro110Leu    Disease       -              Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071284  p.Tyr134Asn    Disease       rs587777388    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071285  p.Arg148Ser    Disease       rs587777383    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071286  p.Arg178Cys    Disease       rs78001248     Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071287  p.Arg178His    Disease       rs587777384    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071288  p.Arg178Leu    Disease       rs587777384    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071289  p.Gly198Asp    Disease       rs864309492    Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071290  p.Arg257Cys    Disease       rs587777387    Visceral myopathy (VSCM) [MIM:155310]
ACTL6A    O96019     VAR_079728  p.Glu227Gln    Unclassified  rs1035631360   -
ACTL6A    O96019     VAR_079729  p.Arg377Trp    Disease       rs868064163    -
ACTL7A    Q9Y615     VAR_024362  p.Val340Met    Polymorphism  rs7872077      -
ACTL7A    Q9Y615     VAR_031425  p.Arg45Cys     Polymorphism  rs368653764    -
ACTL7A    Q9Y615     VAR_033460  p.Ala161Pro    Polymorphism  rs35995497     -
ACTL7A    Q9Y615     VAR_060998  p.Leu343Val    Polymorphism  rs56031956     -
ACTL8     Q9H568     VAR_032079  p.Ala3Ser      Polymorphism  rs694214       -
ACTL8     Q9H568     VAR_032080  p.Arg245Cys    Polymorphism  rs3795322      -
ACTL9     Q8TC94     VAR_043000  p.Phe37Ser     Polymorphism  rs2340550      -
ACTL9     Q8TC94     VAR_043001  p.Ala42Asp     Unclassified  -              A colorectal cancer sample
ACTL9     Q8TC94     VAR_043002  p.Val51Ala     Polymorphism  rs10410943     -
ACTL9     Q8TC94     VAR_043003  p.His227Asn    Polymorphism  rs4804079      -
ACTL9     Q8TC94     VAR_043004  p.Ala332Thr    Unclassified  rs782721280    A colorectal cancer sample
ACTN1     P12814     VAR_053883  p.Asn707Thr    Polymorphism  rs7157661      -
ACTN1     P12814     VAR_053884  p.Thr868Ser    Polymorphism  rs11557769     -
ACTN1     P12814     VAR_069910  p.Gln32Lys     Disease       rs387907346    Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069911  p.Arg46Gln     Disease       rs387907348    Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069912  p.Val105Ile    Disease       rs387907345    Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069913  p.Arg197Trp    Polymorphism  rs904887313    -
ACTN1     P12814     VAR_069914  p.Glu225Lys    Disease       rs387907350    Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069915  p.Arg738Trp    Disease       rs387907349    Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069916  p.Arg752Gln    Disease       rs387907347    Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN2     P35609     VAR_033487  p.Met604Val    Polymorphism  rs35997569     -
ACTN2     P35609     VAR_054628  p.Gln9Arg      Disease       rs121434525    Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158]
ACTN2     P35609     VAR_071970  p.Ala119Thr    Disease       rs727502886    Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158]
ACTN2     P35609     VAR_071970  p.Ala119Thr    Disease       rs727502886    Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
ACTN2     P35609     VAR_071971  p.Thr495Met    Disease       rs200248944    Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
ACTN2     P35609     VAR_071972  p.Glu583Ala    Disease       rs200631005    Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
ACTN2     P35609     VAR_071973  p.Glu628Gly    Disease       rs786204951    Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
ACTN2     P35609     VAR_074292  p.Met228Thr    Disease       rs786205144    Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) [MIM:612158]
ACTN3     Q08043     VAR_012705  p.Arg523Gln    Polymorphism  rs1671064      -
ACTN3     Q08043     VAR_033488  p.Glu635Ala    Polymorphism  rs2229456      -
ACTN3     Q08043     VAR_047528  p.Cys628Arg    Polymorphism  rs618838       -
ACTN3     Q08043     VAR_047529  p.Gln776Arg    Polymorphism  rs540874       -
ACTN4     O43707     VAR_010378  p.Lys255Glu    Disease       rs121908415    Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_010379  p.Thr259Ile    Disease       rs121908416    Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_010380  p.Ser262Pro    Disease       rs121908417    Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_072115  p.Ser262Phe    Disease       -              Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_072116  p.Ala427Thr    Disease       rs201128110    Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_072117  p.Asn748Asp    Disease       -              Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_072118  p.Ala784Val    Unclassified  rs771421233    -
ACTN4     O43707     VAR_072119  p.Gly786Arg    Polymorphism  -              -
ACTN4     O43707     VAR_072120  p.Pro787Leu    Polymorphism  -              -
ACTN4     O43707     VAR_072121  p.Pro787Ser    Polymorphism  -              -
ACTN4     O43707     VAR_072122  p.Cys793Tyr    Unclassified  -              -
ACTN4     O43707     VAR_072123  p.Gly798Asp    Unclassified  -              -
ACTN4     O43707     VAR_072124  p.Val801Met    Polymorphism  rs141727248    -
ACTN4     O43707     VAR_079797  p.Trp59Arg     Disease       -              Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_079798  p.Glu72Gln     Disease       -              Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_079799  p.Phe153Leu    Unclassified  -              Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_079800  p.Arg310Gln    Unclassified  rs112545413    Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTR1B    P42025     VAR_025315  p.Val93Ala     Polymorphism  rs11547231     -
ACTR1B    P42025     VAR_048187  p.Ala143Val    Polymorphism  rs11692435     -
ACTR3B    Q9P1U1     VAR_048188  p.Arg250Gln    Polymorphism  rs2260545      -
ACTR5     Q9H9F9     VAR_027158  p.Arg298Leu    Polymorphism  rs17853829     -
ACTR5     Q9H9F9     VAR_027159  p.Ile483Val    Polymorphism  rs2245231      -
ACTR5     Q9H9F9     VAR_027160  p.Pro580Leu    Polymorphism  rs3752289      -
ACTR5     Q9H9F9     VAR_048189  p.Ile461Leu    Polymorphism  rs35805905     -
ACTR8     Q9H981     VAR_028033  p.Thr56Ile     Polymorphism  rs3733082      -
ACTRT1    Q8TDG2     VAR_080907  p.Glu124Lys    Unclassified  -              -
ACTRT2    Q8TDY3     VAR_020416  p.Gly247Arg    Polymorphism  rs3795263      -
ACTRT3    Q9BYD9     VAR_055483  p.Glu234Lys    Polymorphism  rs2068178      -
ACVR1     Q04771     VAR_028444  p.Arg206His    Disease       rs121912678    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_041392  p.Ala15Gly     Polymorphism  rs13406336     -
ACVR1     Q04771     VAR_041393  p.Ser41Phe     Polymorphism  rs55957214     -
ACVR1     Q04771     VAR_041394  p.His47Gln     Polymorphism  rs34056189     -
ACVR1     Q04771     VAR_041395  p.Pro115Ser    Unclassified  -              A melanoma sample
ACVR1     Q04771     VAR_058419  p.Arg202Ile    Disease       rs387906591    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058420  p.Gln207Glu    Disease       -              Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058421  p.Gly328Glu    Disease       rs387906589    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058422  p.Gly328Arg    Disease       rs387906588    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058423  p.Gly328Trp    Disease       rs387906588    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058424  p.Gly356Asp    Disease       rs121912679    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058425  p.Arg375Pro    Disease       rs387906590    Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1B    P36896     VAR_011716  p.Leu408Val    Polymorphism  rs928906       -
ACVR1B    P36896     VAR_041406  p.Phe146Leu    Polymorphism  rs34488074     -
ACVR1C    Q8NER5     VAR_041407  p.Ile195Thr    Polymorphism  rs56188432     -
ACVR1C    Q8NER5     VAR_041408  p.Gly216Arg    Polymorphism  rs34742924     -
ACVR1C    Q8NER5     VAR_041409  p.Trp267Arg    Unclassified  -              A lung squamous cell carcinoma sample
ACVR1C    Q8NER5     VAR_041410  p.Ile355Val    Polymorphism  rs35500979     -
ACVR1C    Q8NER5     VAR_041411  p.Ile482Val    Polymorphism  rs7594480      -
ACVR2A    P27037     VAR_032809  p.Ser258Arg    Polymorphism  rs34917571     -
ACVR2A    P27037     VAR_032810  p.Asp306Asn    Unclassified  rs764255410    A gastric adenocarcinoma sample
ACVR2A    P27037     VAR_064692  p.Ala367Thr    Unclassified  -              -
ACVR2B    Q13705     VAR_013281  p.Arg40His     Disease       rs121434437    Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]
ACVR2B    Q13705     VAR_013282  p.Val494Ile    Disease       rs121434438    Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]
ACVR2B    Q13705     VAR_041396  p.Pro176Arg    Polymorphism  rs35882617     -
ACVR2B    Q13705     VAR_050594  p.Glu459Asp    Polymorphism  rs500611       -
ACVRL1    P37023     VAR_006204  p.Trp50Cys     Disease       rs121909285    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006205  p.Cys51Tyr     Disease       rs863223409    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006206  p.Arg67Gln     Disease       rs863223414    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006207  p.Cys77Trp     Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006208  p.Asn96Asp     Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006210  p.Ser333Ile    Disease       rs863223413    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006211  p.Arg374Trp    Disease       rs28936401     Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006212  p.Met376Arg    Disease       rs28936399     Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006213  p.Arg411Gln    Disease       rs121909284    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006214  p.Pro424Thr    Disease       rs1085307419   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_011717  p.Ile245Asn    Polymorphism  rs1804508      -
ACVRL1    P37023     VAR_026785  p.Gly48Arg     Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026786  p.Arg67Trp     Disease       rs1085307405   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026787  p.Asp179Ala    Disease       rs753792569    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026788  p.Gly211Asp    Disease       rs28936687     Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026789  p.Glu215Lys    Disease       rs754283265    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026790  p.Gly223Arg    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026791  p.Lys229Arg    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026794  p.Leu285Phe    Disease       rs1085307410   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026795  p.Ala306Pro    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026796  p.His314Tyr    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026797  p.Leu337Pro    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026798  p.Cys344Tyr    Disease       rs28936688     Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026799  p.Ala347Pro    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026800  p.Arg374Gln    Disease       rs1060503248   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026801  p.Met376Val    Disease       rs1555153277   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026802  p.Pro378Leu    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026803  p.Glu379Lys    Disease       rs1131691686   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026804  p.Asp397Gly    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026805  p.Ile398Asn    Disease       rs121909286    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026806  p.Trp399Ser    Disease       rs121909289    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026807  p.Glu407Asp    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026808  p.Arg411Pro    Disease       rs121909284    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026809  p.Arg411Trp    Disease       rs121909287    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026810  p.Phe425Leu    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026811  p.Phe425Val    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026813  p.Arg479Leu    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026814  p.Ala482Val    Disease       rs139142865    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026815  p.Arg484Trp    Disease       rs121909288    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026816  p.Lys487Thr    Disease       rs1085307428   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070308  p.Pro30Ser     Unclassified  rs149664056    -
ACVRL1    P37023     VAR_070309  p.Cys34Tyr     Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070310  p.Ser38Cys     Polymorphism  -              -
ACVRL1    P37023     VAR_070311  p.Trp50Gly     Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070312  p.Thr52Ala     Disease       rs1131691346   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070313  p.His66Pro     Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070314  p.Cys69Arg     Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070315  p.Asn96Ser     Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070316  p.Leu138Pro    Polymorphism  -              -
ACVRL1    P37023     VAR_070317  p.Asp176Tyr    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070318  p.Thr197Ile    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070319  p.Trp217Gly    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070320  p.Gly219Asp    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070321  p.Val226Glu    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070322  p.Ser233Leu    Disease       rs762773076    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070323  p.Gln237Lys    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070324  p.Ile260Leu    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070325  p.Thr265Pro    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070326  p.Thr277Lys    Unclassified  -              -
ACVRL1    P37023     VAR_070327  p.His280Arg    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070328  p.Leu289Pro    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070329  p.Leu294Arg    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070330  p.His328Gln    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070331  p.Asn335His    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070332  p.Leu342Pro    Polymorphism  -              -
ACVRL1    P37023     VAR_070333  p.Cys344Arg    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070334  p.Ala347Asp    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070335  p.Pro378Ser    Disease       rs959973779    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070336  p.Ala400Thr    Unclassified  -              -
ACVRL1    P37023     VAR_070337  p.Leu403Pro    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070338  p.Gly416Ser    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070339  p.Pro424Arg    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070340  p.Tyr426Cys    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070341  p.Pro433Arg    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070342  p.Pro449Ser    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070343  p.Arg479Pro    Disease       rs1085307426   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070344  p.Lys486Glu    Unclassified  rs113700354    -
ACVRL1    P37023     VAR_075231  p.Cys41Gly     Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075232  p.Cys41Tyr     Disease       rs1184716348   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075233  p.Cys46Gly     Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075234  p.Arg47Pro     Disease       rs774389618    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075235  p.His66Tyr     Disease       rs1480110873   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075236  p.Cys77Phe     Disease       rs1330837892   Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075237  p.Glu111Asp    Polymorphism  rs1481094868   -
ACVRL1    P37023     VAR_075238  p.Gly211Ser    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075239  p.Ile245Val    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075240  p.Leu313Val    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075241  p.Glu379Asp    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075242  p.Val404Gly    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075243  p.Ile417Phe    Polymorphism  rs141653630    -
ACVRL1    P37023     VAR_075244  p.Val441Met    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_075245  p.Cys443Tyr    Disease       -              Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_079583  p.Lys8Asn      Polymorphism  -              -
ACVRL1    P37023     VAR_079584  p.Glu59Val     Unclassified  rs1466116430   -
ACVRL1    P37023     VAR_079585  p.Glu159Val    Unclassified  -              -
ACVRL1    P37023     VAR_079586  p.Ser225Cys    Unclassified  -              -
ACVRL1    P37023     VAR_079587  p.Thr396Ala    Unclassified  -              -
ACY1      Q03154     VAR_020452  p.Arg386Cys    Disease       rs2229152      Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_026104  p.Glu233Asp    Disease       rs121912699    Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_026105  p.Arg353Cys    Disease       rs121912698    Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_036076  p.Glu381Asp    Unclassified  -              A breast cancer sample
ACY1      Q03154     VAR_043113  p.Arg197Trp    Disease       rs121912700    Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_043114  p.Arg393His    Disease       rs121912701    Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_051805  p.Asn179Ser    Polymorphism  rs887540       -
ACY1      Q03154     VAR_065562  p.Arg378Gln    Disease       rs150480963    Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_065563  p.Arg378Trp    Disease       rs148346337    Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY3      Q96HD9     VAR_048341  p.Arg8Gln      Polymorphism  rs948445       -
ACY3      Q96HD9     VAR_048342  p.Val281Met    Polymorphism  rs2290959      -
ADA       P00813     VAR_002209  p.Asp8Asn      Polymorphism  rs73598374     -
ADA       P00813     VAR_002210  p.His15Asp     Disease       rs121908725    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002211  p.Gly20Arg     Disease       rs121908724    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002212  p.Gly74Cys     Disease       rs121908730    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002213  p.Arg76Trp     Disease       rs121908736    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002214  p.Lys80Arg     Polymorphism  rs11555566     -
ADA       P00813     VAR_002215  p.Ala83Asp     Disease       rs121908726    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002216  p.Arg101Leu    Disease       rs121908714    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002217  p.Arg101Trp    Disease       rs121908717    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002218  p.Arg101Gln    Disease       rs121908714    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002219  p.Leu107Pro    Disease       rs121908739    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002220  p.Val129Met    Disease       rs121908731    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002221  p.Gly140Glu    Disease       rs121908732    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002222  p.Arg142Gln    Unclassified  rs61732239     A pancreatic ductal adenocarcinoma sample
ADA       P00813     VAR_002223  p.Arg149Gln    Disease       rs121908737    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002224  p.Arg149Trp    Disease       rs121908733    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002225  p.Leu152Met    Polymorphism  rs121908728    -
ADA       P00813     VAR_002226  p.Arg156Cys    Disease       rs121908735    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002227  p.Arg156His    Disease       rs121908722    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002228  p.Val177Met    Disease       rs121908719    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002229  p.Ala179Asp    Disease       rs121908727    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002230  p.Gln199Pro    Disease       rs121908734    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002231  p.Arg211Cys    Disease       rs121908740    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002232  p.Arg211His    Disease       rs121908716    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002233  p.Ala215Thr    Disease       rs114025668    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002234  p.Gly216Arg    Disease       rs121908723    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002235  p.Thr233Ile    Polymorphism  rs121908729    -
ADA       P00813     VAR_002236  p.Pro274Leu    Disease       rs121908738    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002237  p.Ser291Leu    Disease       rs121908721    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002238  p.Pro297Gln    Disease       rs121908718    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002239  p.Leu304Arg    Disease       rs199422327    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002240  p.Ala329Val    Disease       rs121908715    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_076954  p.Tyr97Cys     Unclassified  rs267606634    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_076955  p.Leu106Val    Unclassified  rs267606635    Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA2      Q9NZK5     VAR_029802  p.His335Arg    Polymorphism  rs2231495      -
ADA2      Q9NZK5     VAR_071137  p.Gly47Arg     Disease       rs202134424    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071138  p.Gly47Val     Disease       rs200930463    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071139  p.Ala109Asp    Disease       rs587777240    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071140  p.His112Gln    Disease       rs587777241    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071141  p.Arg169Gln    Disease       rs77563738     Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071142  p.Pro251Leu    Disease       rs148936893    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071143  p.Trp264Ser    Disease       rs587777242    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_071144  p.Tyr453Cys    Disease       rs376785840    Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) [MIM:615688]
ADA2      Q9NZK5     VAR_072562  p.Val119Ala    Disease       -              Sneddon syndrome (SNDNS) [MIM:182410]
ADA2      Q9NZK5     VAR_072563  p.Gly142Ser    Disease       -              Sneddon syndrome (SNDNS) [MIM:182410]
ADAD2     Q8NCV1     VAR_036976  p.Gly44Glu     Polymorphism  rs8044695      -
ADAD2     Q8NCV1     VAR_055650  p.Gly235Arg    Polymorphism  rs11149631     -
ADAM10    O14672     VAR_066309  p.His176Tyr    Unclassified  rs267604273    A cutaneous metastatic melanoma sample
ADAM10    O14672     VAR_070907  p.Pro139Ser    Disease       rs483352912    Reticulate acropigmentation of Kitamura (RAK) [MIM:615537]
ADAM10    O14672     VAR_070908  p.Gln170His    Disease       rs61751103     Alzheimer disease 18 (AD18) [MIM:615590]
ADAM10    O14672     VAR_070909  p.Arg181Gly    Disease       rs145518263    Alzheimer disease 18 (AD18) [MIM:615590]
ADAM10    O14672     VAR_070910  p.Cys524Tyr    Disease       rs483352916    Reticulate acropigmentation of Kitamura (RAK) [MIM:615537]
ADAM11    O75078     VAR_062669  p.Ser693Arg    Unclassified  -              A pancreatic ductal adenocarcinoma sample
ADAM12    O43184     VAR_036143  p.Asp301His    Unclassified  -              A breast cancer sample
ADAM12    O43184     VAR_036144  p.Gly479Glu    Unclassified  rs1459457663   A breast cancer sample
ADAM12    O43184     VAR_036145  p.Leu792Phe    Unclassified  -              A breast cancer sample
ADAM12    O43184     VAR_038542  p.Gly48Arg     Polymorphism  rs3740199      -
ADAM12    O43184     VAR_066310  p.Gly712Glu    Unclassified  -              A cutaneous metastatic melanoma sample
ADAM12    O43184     VAR_066311  p.Pro893Ser    Unclassified  rs151030407    A cutaneous metastatic melanoma sample
ADAM15    Q13444     VAR_060315  p.Lys191Thr    Polymorphism  rs6427128      -
ADAM15    Q13444     VAR_060316  p.Pro294His    Polymorphism  rs2306122      -
ADAM15    Q13444     VAR_068970  p.Glu216Lys    Polymorphism  rs115753757    -
ADAM17    P78536     VAR_051586  p.Lys162Glu    Polymorphism  rs34431503     -
ADAM17    P78536     VAR_051587  p.Arg202Gly    Polymorphism  rs2230818      -
ADAM18    Q9Y3Q7     VAR_051588  p.Val212Phe    Polymorphism  rs10093794     -
ADAM18    Q9Y3Q7     VAR_066312  p.Pro170Ser    Unclassified  rs267601916    A cutaneous metastatic melanoma sample
ADAM18    Q9Y3Q7     VAR_066313  p.Val284Gly    Unclassified  -              A cutaneous metastatic melanoma sample
ADAM18    Q9Y3Q7     VAR_066314  p.Met344Ile    Unclassified  rs267601918    A cutaneous metastatic melanoma sample
ADAM18    Q9Y3Q7     VAR_066315  p.Met362Lys    Unclassified  -              A cutaneous metastatic melanoma sample
ADAM18    Q9Y3Q7     VAR_066316  p.Ser536Leu    Unclassified  -              A cutaneous metastatic melanoma sample
ADAM19    Q9H013     VAR_036146  p.Arg133Gln    Unclassified  rs200894535    A colorectal cancer sample
ADAM19    Q9H013     VAR_036147  p.Ala298Thr    Unclassified  rs1178207005   A colorectal cancer sample
ADAM19    Q9H013     VAR_057066  p.Gly4Ser      Polymorphism  rs11465228     -
ADAM19    Q9H013     VAR_062670  p.His609Gln    Unclassified  -              A pancreatic ductal adenocarcinoma sample
ADAM2     Q99965     VAR_035217  p.Gly10Trp     Polymorphism  rs34800519     -
ADAM20    O43506     VAR_047311  p.Phe19Leu     Polymorphism  rs1059166      -
ADAM22    Q9P0K1     VAR_020057  p.Pro81Arg     Polymorphism  rs2279542      -
ADAM22    Q9P0K1     VAR_051589  p.His119Tyr    Polymorphism  rs4728730      -
ADAM22    Q9P0K1     VAR_051590  p.Val207Ile    Polymorphism  rs17255978     -
ADAM22    Q9P0K1     VAR_080496  p.Cys401Tyr    Unclassified  rs747259064    Epileptic encephalopathy, early infantile, 61 (EIEE61) [MIM:617933]
ADAM28    Q9UKQ2     VAR_024596  p.Val765Met    Polymorphism  rs7814768      -
ADAM28    Q9UKQ2     VAR_057067  p.Arg219Met    Polymorphism  rs9314282      -
ADAM28    Q9UKQ2     VAR_057068  p.Glu226Asp    Polymorphism  rs17736699     -
ADAM28    Q9UKQ2     VAR_057069  p.Asn493Ser    Polymorphism  rs7001647      -
ADAM28    Q9UKQ2     VAR_057070  p.Thr593Lys    Polymorphism  rs36041430     -
ADAM28    Q9UKQ2     VAR_057071  p.Thr604Pro    Polymorphism  rs35617826     -
ADAM28    Q9UKQ2     VAR_057072  p.Met684Ile    Polymorphism  rs7829965      -
ADAM28    Q9UKQ2     VAR_066317  p.Gly65Glu     Unclassified  -              A cutaneous metastatic melanoma sample
ADAM28    Q9UKQ2     VAR_066318  p.Gly134Glu    Unclassified  rs267601860    A cutaneous metastatic melanoma sample
ADAM28    Q9UKQ2     VAR_066319  p.Gly450Glu    Unclassified  rs267601862    A cutaneous metastatic melanoma sample
ADAM28    Q9UKQ2     VAR_066320  p.Ser482Phe    Unclassified  -              A cutaneous metastatic melanoma sample
ADAM28    Q9UKQ2     VAR_066321  p.Gly502Asp    Unclassified  rs267601864    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_036148  p.Pro31Leu     Unclassified  rs544557652    A colorectal cancer sample
ADAM29    Q9UKF5     VAR_036149  p.Val205Ile    Unclassified  rs772388824    A colorectal cancer sample
ADAM29    Q9UKF5     VAR_066322  p.Leu72Phe     Unclassified  -              A melanoma cell line
ADAM29    Q9UKF5     VAR_066323  p.Ile89Met     Unclassified  -              A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066324  p.Glu111Lys    Unclassified  rs267600087    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066325  p.Ser112Phe    Unclassified  -              A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066326  p.Ser115Phe    Unclassified  -              A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066327  p.Asp131Asn    Unclassified  -              A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066328  p.Glu176Lys    Unclassified  rs899870236    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066329  p.Ser234Phe    Unclassified  rs866380131    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066330  p.Ile257Phe    Unclassified  rs140083180    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066331  p.Gly305Glu    Unclassified  rs267600089    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066332  p.Asp345Asn    Unclassified  rs267600090    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066333  p.Gly403Asp    Unclassified  rs150047888    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066334  p.Gly434Asp    Unclassified  rs267600091    A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066335  p.Glu503Lys    Unclassified  -              A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066336  p.His533Tyr    Unclassified  rs267600093    A cutaneous metastatic melanoma sample
ADAM30    Q9UKF2     VAR_024597  p.Leu359Pro    Polymorphism  rs2641348      -
ADAM30    Q9UKF2     VAR_061738  p.Thr737Ala    Polymorphism  rs35273427     -
ADAM32    Q8TC27     VAR_051591  p.Thr467Ser    Polymorphism  rs7845771      -
ADAM32    Q8TC27     VAR_055241  p.Gln98Arg     Polymorphism  rs17856744     -
ADAM32    Q8TC27     VAR_055242  p.Ser160Gly    Polymorphism  rs17852343     -
ADAM32    Q8TC27     VAR_055243  p.Leu327Val    Polymorphism  rs9643859      -
ADAM32    Q8TC27     VAR_055244  p.Lys658Asn    Polymorphism  rs13277386     -
ADAM32    Q8TC27     VAR_061739  p.Asp778Glu    Polymorphism  rs28705715     -
ADAM33    Q9BZ11     VAR_021847  p.Met764Thr    Polymorphism  rs2280091      -
ADAM33    Q9BZ11     VAR_029143  p.Thr178Ala    Polymorphism  rs3918392      -
ADAM33    Q9BZ11     VAR_029144  p.Pro774Ser    Polymorphism  rs2280090      -
ADAM33    Q9BZ11     VAR_030512  p.Asn109Ser    Polymorphism  rs41467948     -
ADAM33    Q9BZ11     VAR_030513  p.Thr272Met    Polymorphism  rs41534847     -
ADAM33    Q9BZ11     VAR_030514  p.Val316Ile    Polymorphism  rs41459049     -
ADAM33    Q9BZ11     VAR_030515  p.Pro336Ser    Polymorphism  rs41483049     -
ADAM33    Q9BZ11     VAR_030516  p.Ala365Ser    Polymorphism  rs41419248     -
ADAM33    Q9BZ11     VAR_030517  p.Asp441Glu    Polymorphism  rs41382144     -
ADAM33    Q9BZ11     VAR_030518  p.Trp515Arg    Polymorphism  rs615436       -
ADAM33    Q9BZ11     VAR_030519  p.Leu612His    Polymorphism  rs41453444     -
ADAM33    Q9BZ11     VAR_030520  p.Val710Ile    Polymorphism  rs3918396      -
ADAM33    Q9BZ11     VAR_030521  p.Cys739Gly    Polymorphism  rs41434648     -
ADAM33    Q9BZ11     VAR_030522  p.Asp742Tyr    Polymorphism  rs41462450     -
ADAM33    Q9BZ11     VAR_066337  p.Ala305Val    Unclassified  rs1169229302   A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_046728  p.Glu25Gln     Polymorphism  rs34852692     -
ADAM7     Q9H2U9     VAR_046729  p.Ile205Val    Polymorphism  rs7829386      -
ADAM7     Q9H2U9     VAR_046730  p.Val244Met    Polymorphism  rs13255694     -
ADAM7     Q9H2U9     VAR_046731  p.Ile453Thr    Polymorphism  rs3736281      -
ADAM7     Q9H2U9     VAR_046732  p.Leu570Val    Polymorphism  rs2307044      -
ADAM7     Q9H2U9     VAR_046733  p.Asn638His    Polymorphism  rs13259668     -
ADAM7     Q9H2U9     VAR_046734  p.Leu735Pro    Polymorphism  rs6980829      -
ADAM7     Q9H2U9     VAR_066296  p.Pro14Ser     Unclassified  rs150319320    A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066297  p.Arg31Cys     Unclassified  rs137990671    A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066298  p.Pro36Ser     Unclassified  rs267601866    A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066299  p.His106Tyr    Unclassified  rs267601867    A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066300  p.Leu173Pro    Unclassified  -              -
ADAM7     Q9H2U9     VAR_066301  p.Val180Ala    Unclassified  -              A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066302  p.His243Tyr    Unclassified  -              A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066303  p.Gly302Glu    Unclassified  -              A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066304  p.Met359Ile    Unclassified  rs267601868    A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066305  p.Gly533Glu    Unclassified  rs867202281    A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066306  p.Phe593Leu    Unclassified  -              -
ADAM7     Q9H2U9     VAR_066307  p.Glu639Lys    Unclassified  rs1034941983   A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066308  p.Ser703Asn    Unclassified  -              A cutaneous metastatic melanoma sample
ADAM8     P78325     VAR_059760  p.Gly101Arg    Polymorphism  rs11101675     -
ADAM8     P78325     VAR_061735  p.Arg189Trp    Polymorphism  rs45451297     -
ADAM8     P78325     VAR_061736  p.Arg433Cys    Polymorphism  rs12257830     -
ADAM8     P78325     VAR_061737  p.Ile775Thr    Polymorphism  rs3008319      -
ADAM8     P78325     VAR_069144  p.Trp35Arg     Polymorphism  rs2275725      -
ADAM8     P78325     VAR_069145  p.Phe657Leu    Polymorphism  rs2275720      -
ADAMDEC1  O15204     VAR_021848  p.Asn444Ser    Polymorphism  rs3765124      -
ADAMDEC1  O15204     VAR_024598  p.Met121Thr    Polymorphism  rs7007084      -
ADAMTS1   Q9UHI8     VAR_030001  p.Ala227Pro    Polymorphism  rs428785       -
ADAMTS10  Q9H324     VAR_054439  p.Ala25Thr     Disease       -              Weill-Marchesani syndrome 1 (WMS1) [MIM:277600]
ADAMTS10  Q9H324     VAR_054440  p.Arg119Gln    Polymorphism  rs3814291      -
ADAMTS10  Q9H324     VAR_054441  p.Thr134Ser    Polymorphism  rs7255721      -
ADAMTS12  P58397     VAR_057074  p.Gln110Glu    Polymorphism  rs16891862     -
ADAMTS12  P58397     VAR_057075  p.Arg1000Gln   Polymorphism  rs13362345     -
ADAMTS12  P58397     VAR_058972  p.Thr1495Ile   Polymorphism  rs25754        -
ADAMTS12  P58397     VAR_059761  p.Trp1177Arg   Polymorphism  rs3813474      -
ADAMTS12  P58397     VAR_059762  p.Ser1591Pro   Polymorphism  rs16891281     -
ADAMTS13  Q76LX8     VAR_027109  p.Arg7Trp      Polymorphism  rs34024143     -
ADAMTS13  Q76LX8     VAR_027110  p.Val88Met     Disease       rs281875302    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027111  p.His96Asp     Disease       rs121908467    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027112  p.Arg102Cys    Disease       rs121908469    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027113  p.Arg193Trp    Disease       rs281875287    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027114  p.Thr196Ile    Disease       rs121908470    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027115  p.His234Gln    Disease       rs281875304    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027116  p.Ala250Val    Disease       rs121908478    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027117  p.Arg268Pro    Disease       rs121908477    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027118  p.Trp390Cys    Disease       rs281875306    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027119  p.Arg398His    Disease       rs121908471    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027120  p.Gln448Glu    Polymorphism  rs2301612      -
ADAMTS13  Q76LX8     VAR_027121  p.Pro475Ser    Polymorphism  rs11575933     -
ADAMTS13  Q76LX8     VAR_027122  p.Cys508Tyr    Disease       rs281875305    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027123  p.Arg528Gly    Disease       rs121908473    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027124  p.Pro618Ala    Polymorphism  rs28647808     -
ADAMTS13  Q76LX8     VAR_027125  p.Arg625His    Polymorphism  rs36090624     -
ADAMTS13  Q76LX8     VAR_027126  p.Ile673Phe    Disease       rs281875307    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027127  p.Arg692Cys    Disease       rs121908475    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027128  p.Ala732Val    Polymorphism  rs41314453     -
ADAMTS13  Q76LX8     VAR_027129  p.Ala900Val    Polymorphism  rs685523       -
ADAMTS13  Q76LX8     VAR_027130  p.Ser903Leu    Polymorphism  rs78977446     -
ADAMTS13  Q76LX8     VAR_027131  p.Cys908Tyr    Disease       rs281875301    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027132  p.Cys951Gly    Disease       rs121908468    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027133  p.Cys1024Gly   Disease       rs121908472    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027134  p.Ala1033Thr   Polymorphism  rs28503257     -
ADAMTS13  Q76LX8     VAR_027135  p.Arg1095Trp   Polymorphism  rs782383410    -
ADAMTS13  Q76LX8     VAR_027136  p.Arg1123Cys   Disease       rs281875340    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027137  p.Cys1213Tyr   Disease       rs121908474    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027138  p.Gly1239Val   Disease       rs281875303    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027139  p.Arg1336Trp   Disease       rs281875308    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_027162  p.Gln456His    Polymorphism  rs36220239     -
ADAMTS13  Q76LX8     VAR_027163  p.Pro457Leu    Polymorphism  rs36220240     -
ADAMTS13  Q76LX8     VAR_027164  p.Glu740Lys    Polymorphism  rs36221451     -
ADAMTS13  Q76LX8     VAR_027165  p.Gly982Arg    Polymorphism  rs36222275     -
ADAMTS13  Q76LX8     VAR_027166  p.Thr1226Ile   Polymorphism  rs36222894     -
ADAMTS13  Q76LX8     VAR_067770  p.Ile79Met     Disease       rs281875297    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067771  p.Ser119Phe    Disease       rs281875291    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067772  p.Ile178Thr    Disease       rs281875289    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067773  p.Ser203Pro    Disease       rs281875298    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067774  p.Leu232Gln    Disease       rs281875292    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067775  p.Asp235His    Disease       rs281875337    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067776  p.Ser263Cys    Disease       rs281875293    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067777  p.Tyr304Cys    Disease       rs281875285    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067778  p.Cys311Tyr    Disease       rs281875336    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067779  p.Thr339Arg    Polymorphism  rs149517360    -
ADAMTS13  Q76LX8     VAR_067780  p.Cys347Ser    Disease       rs281875294    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067781  p.Arg349Cys    Disease       rs281875288    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067782  p.Pro353Leu    Disease       rs281875338    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067783  p.Arg507Gln    Disease       rs281875296    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067784  p.Gly525Asp    Disease       rs281875286    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067785  p.Ala596Val    Disease       rs281875299    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067786  p.Ala606Pro    Disease       rs281875290    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067787  p.Tyr658Cys    Disease       rs281875335    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067788  p.Pro671Leu    Disease       rs281875295    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067789  p.Cys758Arg    Disease       rs281875300    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067790  p.Cys908Ser    Disease       rs281875301    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067792  p.Arg1060Trp   Disease       rs142572218    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067793  p.Arg1219Trp   Disease       rs281875339    Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]
ADAMTS13  Q76LX8     VAR_067794  p.Ser1314Leu   Polymorphism  rs142060916    -
ADAMTS14  Q8WXS8     VAR_047837  p.Arg179Cys    Polymorphism  rs34022601     -
ADAMTS14  Q8WXS8     VAR_047838  p.Leu590Pro    Polymorphism  rs10823607     -
ADAMTS14  Q8WXS8     VAR_047839  p.Leu937Met    Polymorphism  rs12774070     -
ADAMTS14  Q8WXS8     VAR_047840  p.Ser1017Asn   Polymorphism  rs10999516     -
ADAMTS14  Q8WXS8     VAR_047841  p.Glu1049Gly   Polymorphism  rs4747096      -
ADAMTS15  Q8TE58     VAR_036150  p.Gln770Arg    Unclassified  rs776537988    A colorectal cancer sample
ADAMTS15  Q8TE58     VAR_036151  p.Cys878Gly    Unclassified  -              A colorectal cancer sample
ADAMTS15  Q8TE58     VAR_051594  p.Asn623Ser    Polymorphism  rs11222114     -
ADAMTS16  Q8TE57     VAR_057076  p.Met110Val    Polymorphism  rs1863968      -
ADAMTS16  Q8TE57     VAR_057077  p.Ala486Thr    Polymorphism  rs16875054     -
ADAMTS16  Q8TE57     VAR_057078  p.Arg789Cys    Polymorphism  rs9313105      -
ADAMTS16  Q8TE57     VAR_057079  p.Arg859Leu    Polymorphism  rs16875122     -
ADAMTS16  Q8TE57     VAR_057080  p.Glu863Lys    Polymorphism  rs35394775     -
ADAMTS17  Q8TE56     VAR_057081  p.Ser216Leu    Polymorphism  rs7496668      -
ADAMTS17  Q8TE56     VAR_057082  p.Met482Thr    Polymorphism  rs28567966     -
ADAMTS17  Q8TE56     VAR_060317  p.Asn1094Ser   Polymorphism  rs2573652      -
ADAMTS17  Q8TE56     VAR_064041  p.Arg566Thr    Polymorphism  -              -
ADAMTS18  Q8TE60     VAR_036152  p.Arg382Lys    Unclassified  rs368783738    A colorectal cancer sample
ADAMTS18  Q8TE60     VAR_036153  p.Lys455Thr    Unclassified  rs776584074    A colorectal cancer sample
ADAMTS18  Q8TE60     VAR_057083  p.Leu769Ile    Polymorphism  rs9930984      -
ADAMTS18  Q8TE60     VAR_057084  p.Ala946Ser    Polymorphism  rs12935394     -
ADAMTS18  Q8TE60     VAR_057085  p.Ser1080Arg   Polymorphism  rs35478105     -
ADAMTS18  Q8TE60     VAR_057086  p.Ser1159Thr   Polymorphism  rs3743749      -
ADAMTS18  Q8TE60     VAR_060231  p.Tyr191His    Polymorphism  rs11643211     -
ADAMTS18  Q8TE60     VAR_060232  p.Leu626Ile    Polymorphism  rs11640912     -
ADAMTS18  Q8TE60     VAR_066554  p.Ser179Leu    Polymorphism  rs387906972    -
ADAMTS18  Q8TE60     VAR_070849  p.Leu202Pro    Disease       rs397515468    Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]
ADAMTS18  Q8TE60     VAR_070850  p.Cys577Trp    Disease       rs148319220    Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]
ADAMTS19  Q8TE59     VAR_024599  p.Tyr1089Phe   Polymorphism  rs11749126     -
ADAMTS19  Q8TE59     VAR_036154  p.Leu360Ile    Unclassified  -              A breast cancer sample
ADAMTS19  Q8TE59     VAR_057087  p.Glu582Gly    Polymorphism  rs10062501     -
ADAMTS2   O95450     VAR_020058  p.Val245Ile    Polymorphism  rs398829       -
ADAMTS2   O95450     VAR_020059  p.Pro1177Ser   Polymorphism  rs1054480      -
ADAMTS2   O95450     VAR_047927  p.Val74Met     Polymorphism  rs2271211      -
ADAMTS2   O95450     VAR_047928  p.Arg241His    Polymorphism  rs11750821     -
ADAMTS2   O95450     VAR_047929  p.Glu331Lys    Polymorphism  rs17667857     -
ADAMTS2   O95450     VAR_047930  p.Gly665Arg    Polymorphism  rs35372714     -
ADAMTS2   O95450     VAR_047931  p.Arg827Gln    Polymorphism  rs35445112     -
ADAMTS20  P59510     VAR_057088  p.Lys876Met    Polymorphism  rs7302446      -
ADAMTS20  P59510     VAR_057089  p.Arg1000His   Polymorphism  rs7297737      -
ADAMTS20  P59510     VAR_057090  p.Ser1273Phe   Polymorphism  rs7310011      -
ADAMTS3   O15072     VAR_055012  p.Arg138Lys    Polymorphism  rs788908       -
ADAMTS3   O15072     VAR_055013  p.Ser1074Pro   Polymorphism  rs35864003     -
ADAMTS3   O15072     VAR_081558  p.Leu168Pro    Disease       rs1177851177   Hennekam lymphangiectasia-lymphedema syndrome 3 (HKLLS3) [MIM:618154]
ADAMTS3   O15072     VAR_081559  p.Ile291Thr    Disease       rs61757480     Hennekam lymphangiectasia-lymphedema syndrome 3 (HKLLS3) [MIM:618154]
ADAMTS4   O75173     VAR_022450  p.Gln626Arg    Polymorphism  rs4233367      -
ADAMTS4   O75173     VAR_030636  p.Thr4Ile      Polymorphism  rs17855814     -
ADAMTS4   O75173     VAR_030637  p.Asp304Asn    Polymorphism  rs17855813     -
ADAMTS4   O75173     VAR_030638  p.Met369Val    Polymorphism  rs17855812     -
ADAMTS4   O75173     VAR_030639  p.Pro552Thr    Polymorphism  rs17855815     -
ADAMTS4   O75173     VAR_030640  p.Thr564Ala    Polymorphism  rs17855816     -
ADAMTS4   O75173     VAR_030641  p.Arg836Lys    Polymorphism  rs11807350     -
ADAMTS4   O75173     VAR_057073  p.Ala77Thr     Polymorphism  rs34448954     -
ADAMTS5   Q9UNA0     VAR_021849  p.Arg614His    Polymorphism  rs2830585      -
ADAMTS5   Q9UNA0     VAR_028199  p.Gly138Ala    Polymorphism  rs457947       -
ADAMTS5   Q9UNA0     VAR_028200  p.Leu692Pro    Polymorphism  rs226794       -
ADAMTS7   Q9UKP4     VAR_046112  p.Ser214Pro    Polymorphism  rs3825807      -
ADAMTS7   Q9UKP4     VAR_046113  p.Thr307Met    Polymorphism  rs2127898      -
ADAMTS7   Q9UKP4     VAR_046114  p.Thr1319Ala   Polymorphism  rs11630236     -
ADAMTS7   Q9UKP4     VAR_046115  p.Gly1414Ser   Polymorphism  rs2929155      -
ADAMTS7   Q9UKP4     VAR_046116  p.Gly1583Ala   Polymorphism  rs7495616      -
ADAMTS9   Q9P2N4     VAR_047081  p.Ser96Pro     Polymorphism  rs36115950     -
ADAMTS9   Q9P2N4     VAR_047082  p.Lys1579Glu   Polymorphism  rs17071010     -
ADAMTS9   Q9P2N4     VAR_047083  p.Asp1674Glu   Polymorphism  rs6787633      -
ADAMTS9   Q9P2N4     VAR_047084  p.Lys1740Arg   Polymorphism  rs17070967     -
ADAMTS9   Q9P2N4     VAR_047085  p.Glu1791Gln   Polymorphism  rs3796381      -
ADAMTS9   Q9P2N4     VAR_047086  p.Arg1933Gln   Polymorphism  rs17070905     -
ADAMTS9   Q9P2N4     VAR_051592  p.Ser96Thr     Polymorphism  rs36115950     -
ADAMTS9   Q9P2N4     VAR_051593  p.Lys1921Glu   Polymorphism  rs17070909     -
ADAMTSL1  Q8N6G6     VAR_017174  p.Ser242Asn    Polymorphism  rs776755       -
ADAMTSL2  Q86TH1     VAR_046011  p.Val364Ile    Polymorphism  rs35767802     -
ADAMTSL2  Q86TH1     VAR_054874  p.Arg113His    Disease       rs113994122    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_054875  p.Glu114Lys    Disease       rs113994123    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_054876  p.Pro147Leu    Disease       rs113994121    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_054877  p.Gly811Arg    Disease       rs113994124    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066543  p.Trp50Cys     Disease       rs1395219766   Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066544  p.Arg72Gln     Disease       rs387907064    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066545  p.Arg159Trp    Disease       rs776178041    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066546  p.Ala165Thr    Disease       rs764516811    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066547  p.Cys171Arg    Disease       -              Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066548  p.Arg221Cys    Disease       rs387907065    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066549  p.Ala239Thr    Disease       -              Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066551  p.Arg593Cys    Disease       -              Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066552  p.Ser635Leu    Disease       -              Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066553  p.Pro906Leu    Disease       rs969732840    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL3  P82987     VAR_027478  p.His146Arg    Polymorphism  rs4483821      -
ADAMTSL3  P82987     VAR_027479  p.Leu290Val    Polymorphism  rs4144691      -
ADAMTSL3  P82987     VAR_027480  p.Val661Leu    Polymorphism  rs4842838      -
ADAMTSL3  P82987     VAR_027481  p.Arg855His    Polymorphism  rs2277848      -
ADAMTSL3  P82987     VAR_027482  p.Leu869Phe    Polymorphism  rs2277849      -
ADAMTSL3  P82987     VAR_027483  p.Thr1370Ala   Polymorphism  rs17158450     -
ADAMTSL3  P82987     VAR_027484  p.Met1558Thr   Polymorphism  rs7175910      -
ADAMTSL3  P82987     VAR_027485  p.Thr1660Ile   Polymorphism  rs950169       -
ADAMTSL3  P82987     VAR_027486  p.Arg1679His   Polymorphism  rs11857906     -
ADAMTSL3  P82987     VAR_035809  p.Val330Met    Unclassified  rs1439091253   A colorectal cancer sample
ADAMTSL3  P82987     VAR_035810  p.Arg587His    Unclassified  rs142860011    A colorectal cancer sample
ADAMTSL3  P82987     VAR_035811  p.Arg855Cys    Unclassified  rs146769560    A colorectal cancer sample
ADAMTSL3  P82987     VAR_035812  p.Ala1315Glu   Unclassified  -              A colorectal cancer sample
ADAMTSL3  P82987     VAR_057365  p.Gly713Arg    Polymorphism  rs34047645     -
ADAMTSL4  Q6UY14     VAR_061918  p.Ala193Pro    Polymorphism  rs41317515     -
ADAMTSL4  Q6UY14     VAR_061919  p.Arg1028His   Polymorphism  rs56411234     -
ADAP1     O75689     VAR_047470  p.Gly241Ser    Polymorphism  rs10256887     -
ADAR      P55265     VAR_017240  p.Lys384Arg    Polymorphism  rs2229857      -
ADAR      P55265     VAR_017604  p.Leu923Pro    Disease       rs28936680     Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
ADAR      P55265     VAR_017605  p.Phe1165Ser   Disease       rs28936681     Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
ADAR      P55265     VAR_021729  p.Cys966Phe    Disease       -              Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
ADAR      P55265     VAR_024407  p.Tyr587Cys    Polymorphism  rs17843865     -
ADAR      P55265     VAR_026669  p.Arg1155Trp   Disease       rs1044845711   Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
ADAR      P55265     VAR_035805  p.Glu806Val    Unclassified  rs144119808    A breast cancer sample
ADAR      P55265     VAR_048725  p.Arg100Gly    Polymorphism  rs1466731      -
ADAR      P55265     VAR_069535  p.Pro193Ala    Disease       rs145588689    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069536  p.Ala870Thr    Disease       rs398122893    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069537  p.Ile872Thr    Disease       rs398122897    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069538  p.Arg892His    Disease       rs398122892    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069539  p.Lys999Asn    Disease       rs398122896    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069540  p.Gly1007Arg   Disease       rs398122822    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069541  p.Tyr1112Phe   Disease       rs398122895    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069542  p.Asp1113His   Disease       rs398122894    Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADARB1    P78563     VAR_070931  p.Val224Ala    Polymorphism  rs199697177    -
ADARB2    Q9NS39     VAR_020438  p.Ala44Thr     Polymorphism  rs3793733      -
ADARB2    Q9NS39     VAR_035806  p.Thr210Met    Unclassified  -              A colorectal cancer sample
ADARB2    Q9NS39     VAR_035807  p.Val512Ile    Unclassified  rs138734198    A colorectal cancer sample
ADARB2    Q9NS39     VAR_048726  p.Ala626Thr    Polymorphism  rs2271275      -
ADAT1     Q9BUB4     VAR_032340  p.His167Asn    Polymorphism  rs3743598      -
ADAT1     Q9BUB4     VAR_032341  p.Thr203Asn    Polymorphism  rs3743599      -
ADAT1     Q9BUB4     VAR_055649  p.Thr242Pro    Polymorphism  rs3743600      -
ADAT1     Q9BUB4     VAR_061098  p.Ile226Val    Polymorphism  rs56029288     -
ADAT3     Q96EY9     VAR_035804  p.Arg332Cys    Unclassified  -              A breast cancer sample
ADAT3     Q96EY9     VAR_069778  p.Val128Met    Disease       -              Mental retardation, autosomal recessive 36 (MRT36) [MIM:615286]
ADCK2     Q7Z695     VAR_029992  p.Ser307Pro    Polymorphism  rs1140034      -
ADCK2     Q7Z695     VAR_029993  p.Val418Met    Polymorphism  rs3748092      -
ADCK2     Q7Z695     VAR_029994  p.Pro622Leu    Polymorphism  rs1046515      -
ADCK2     Q7Z695     VAR_041418  p.Val418Leu    Polymorphism  rs3748092      -
ADCK2     Q7Z695     VAR_041419  p.Pro626Leu    Polymorphism  rs55922126     -
ADCK2     Q7Z695     VAR_060990  p.Ser66Gly     Polymorphism  rs2968558      -
ADCK5     Q3MIX3     VAR_029996  p.Ser17Arg     Polymorphism  rs6599528      -
ADCY1     Q08828     VAR_029186  p.Pro456Leu    Polymorphism  rs12721473     -
ADCY1     Q08828     VAR_029187  p.Ala940Thr    Polymorphism  rs45444695     -
ADCY1     Q08828     VAR_048246  p.Val984Met    Polymorphism  rs2293106      -
ADCY10    Q96PN6     VAR_038476  p.Thr234Met    Polymorphism  rs16859886     -
ADCY10    Q96PN6     VAR_038477  p.Ile697Val    Polymorphism  rs2071921      -
ADCY2     Q08462     VAR_029012  p.Val147Leu    Polymorphism  rs13166360     -
ADCY2     Q08462     VAR_048247  p.Val163Ile    Polymorphism  rs34043481     -
ADCY3     O60266     VAR_048248  p.Ser107Pro    Polymorphism  rs11676272     -
ADCY3     O60266     VAR_080791  p.Asn64Ile     Polymorphism  rs541941351    -
ADCY5     O95622     VAR_068821  p.Ala726Thr    Disease       rs796065306    Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]
ADCY5     O95622     VAR_073778  p.Arg418Trp    Disease       rs864309483    Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]
ADCY6     O43306     VAR_048249  p.Ala674Ser    Polymorphism  rs3730071      -
ADCY6     O43306     VAR_073434  p.Arg1116Cys   Disease       rs786204798    Lethal congenital contracture syndrome 8 (LCCS8) [MIM:616287]
ADCY8     P40145     VAR_029188  p.Ala80Thr     Polymorphism  rs2228949      -
ADCY8     P40145     VAR_036328  p.Phe881Leu    Unclassified  -              A colorectal cancer sample
ADCY9     O60503     VAR_023750  p.Ile772Met    Polymorphism  rs2230739      -
ADCY9     O60503     VAR_070887  p.Asn1154Ser   Polymorphism  rs61731445     -
ADCYAP1   P18509     VAR_014597  p.Asp54Gly     Polymorphism  rs2856966      -
ADD1      P35611     VAR_014184  p.Gly460Trp    Polymorphism  rs4961         -
ADD1      P35611     VAR_014185  p.Ser586Cys    Polymorphism  rs4963         -
ADD1      P35611     VAR_014863  p.Tyr270Asn    Polymorphism  rs4971         -
ADD1      P35611     VAR_014864  p.Glu376Asp    Polymorphism  rs4972         -
ADD1      P35611     VAR_014865  p.Asn510Ile    Polymorphism  rs4962         -
ADD1      P35611     VAR_022108  p.Arg6Cys      Polymorphism  rs2295497      -
ADD2      P35612     VAR_014866  p.Asp28Asn     Polymorphism  rs4986         -
ADD2      P35612     VAR_014867  p.Glu335Asp    Polymorphism  rs4982         -
ADD2      P35612     VAR_014868  p.Ser663Arg    Polymorphism  rs4985         -
ADD2      P35612     VAR_025318  p.Thr439Ala    Polymorphism  rs17855969     -
ADD2      P35612     VAR_048195  p.Ser98Cys     Polymorphism  rs4987         -
ADD3      Q9UEY8     VAR_076996  p.Gly367Asp    Disease       rs564185858    Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:617008]
ADGB      Q8N7X0     VAR_025948  p.Ile310Thr    Polymorphism  rs9497606      -
ADGB      Q8N7X0     VAR_063158  p.Thr1637Ala   Polymorphism  rs1052445      -
ADGRA1    Q86SQ6     VAR_055931  p.Ala183Ser    Polymorphism  rs34915504     -
ADGRA1    Q86SQ6     VAR_055932  p.Gln214Leu    Polymorphism  rs34679676     -
ADGRA2    Q96PE1     VAR_072079  p.Pro29Leu     Unclassified  -              -
ADGRA2    Q96PE1     VAR_072561  p.Thr375Lys    Polymorphism  -              -
ADGRA3    Q8IWK6     VAR_033971  p.Val1043Met   Polymorphism  rs9002         -
ADGRA3    Q8IWK6     VAR_033972  p.Val1166Gly   Polymorphism  rs3814416      -
ADGRB2    O60241     VAR_079840  p.Arg1465Trp   Disease       rs778361520    -
ADGRB3    O60242     VAR_046525  p.Asn503Ser    Polymorphism  rs1932618      -
ADGRD1    Q6QNK2     VAR_049461  p.Val508Met    Polymorphism  rs11833801     -
ADGRD1    Q6QNK2     VAR_049462  p.Ser523Leu    Polymorphism  rs11061318     -
ADGRD1    Q6QNK2     VAR_077698  p.Tyr18Cys     Polymorphism  rs149181066    -
ADGRD1    Q6QNK2     VAR_077699  p.Tyr18His     Polymorphism  rs146611221    -
ADGRD1    Q6QNK2     VAR_077700  p.Asp32Asn     Polymorphism  rs376178471    -
ADGRD1    Q6QNK2     VAR_077701  p.Glu78Lys     Polymorphism  rs267603378    -
ADGRD1    Q6QNK2     VAR_077702  p.Thr82Met     Polymorphism  rs143395855    -
ADGRD1    Q6QNK2     VAR_077703  p.Tyr85Cys     Polymorphism  rs199848650    -
ADGRD1    Q6QNK2     VAR_077704  p.Tyr89Asp     Polymorphism  rs201546462    -
ADGRD1    Q6QNK2     VAR_077705  p.Phe110Leu    Polymorphism  rs148928637    -
ADGRD1    Q6QNK2     VAR_077706  p.Ser138Phe    Polymorphism  rs199526762    -
ADGRD1    Q6QNK2     VAR_077707  p.Gly140Ser    Polymorphism  rs374985420    -
ADGRD1    Q6QNK2     VAR_077708  p.Gly141Asp    Polymorphism  rs142759046    -
ADGRD1    Q6QNK2     VAR_077709  p.Val145Leu    Polymorphism  rs146945782    -
ADGRD1    Q6QNK2     VAR_077710  p.Arg150Trp    Polymorphism  rs144030317    -
ADGRD1    Q6QNK2     VAR_077711  p.Trp174Ser    Polymorphism  rs141606054    -
ADGRD1    Q6QNK2     VAR_077712  p.Glu178Lys    Polymorphism  rs148148477    -
ADGRD1    Q6QNK2     VAR_077713  p.Val184Ile    Polymorphism  rs61732860     -
ADGRD1    Q6QNK2     VAR_077714  p.Gly195Arg    Polymorphism  rs267603379    -
ADGRD1    Q6QNK2     VAR_077715  p.Arg199Cys    Polymorphism  rs146310036    -
ADGRD1    Q6QNK2     VAR_077716  p.Arg199His    Polymorphism  rs375084180    -
ADGRD1    Q6QNK2     VAR_077717  p.Glu203Asp    Polymorphism  rs201045213    -
ADGRD1    Q6QNK2     VAR_077718  p.Val209Met    Polymorphism  rs139478688    -
ADGRD1    Q6QNK2     VAR_077719  p.Asp226Asn    Polymorphism  rs377562590    -
ADGRD1    Q6QNK2     VAR_077720  p.Arg233Trp    Polymorphism  rs370807516    -
ADGRD1    Q6QNK2     VAR_077721  p.Ala241Thr    Polymorphism  rs368468703    -
ADGRD1    Q6QNK2     VAR_077722  p.Met242Thr    Polymorphism  rs201057341    -
ADGRD1    Q6QNK2     VAR_077723  p.Thr245Ile    Polymorphism  rs201053759    -
ADGRD1    Q6QNK2     VAR_077724  p.Thr257Ala    Polymorphism  rs146563785    -
ADGRD1    Q6QNK2     VAR_077725  p.Pro259Gln    Polymorphism  rs75096240     -
ADGRD1    Q6QNK2     VAR_077726  p.Ser265Tyr    Polymorphism  rs137909892    -
ADGRD1    Q6QNK2     VAR_077727  p.Ser268Asn    Polymorphism  rs149012578    -
ADGRD1    Q6QNK2     VAR_077728  p.Val270Ala    Polymorphism  rs147773154    -
ADGRD1    Q6QNK2     VAR_077729  p.Val270Met    Polymorphism  rs147105264    -
ADGRD1    Q6QNK2     VAR_077730  p.Pro293Ala    Polymorphism  rs146929634    -
ADGRD1    Q6QNK2     VAR_077731  p.Gly294Arg    Polymorphism  rs148017957    -
ADGRD1    Q6QNK2     VAR_077732  p.Pro308Ser    Polymorphism  rs201661954    -
ADGRD1    Q6QNK2     VAR_077733  p.Leu318Phe    Polymorphism  rs200641036    -
ADGRD1    Q6QNK2     VAR_077734  p.Ser349Asn    Polymorphism  rs370854685    -
ADGRD1    Q6QNK2     VAR_077735  p.Asn364Ser    Polymorphism  rs146050435    -
ADGRD1    Q6QNK2     VAR_077736  p.Thr369Met    Polymorphism  rs142314859    -
ADGRD1    Q6QNK2     VAR_077737  p.Phe383Ser    Polymorphism  rs200232576    -
ADGRD1    Q6QNK2     VAR_077738  p.Val393Met    Polymorphism  rs374606811    -
ADGRD1    Q6QNK2     VAR_077739  p.His397Gln    Polymorphism  rs201985264    -
ADGRD1    Q6QNK2     VAR_077740  p.Arg399Cys    Polymorphism  rs150882180    -
ADGRD1    Q6QNK2     VAR_077741  p.Gly404Ala    Polymorphism  rs371536090    -
ADGRD1    Q6QNK2     VAR_077742  p.Gln405Pro    Polymorphism  rs145663007    -
ADGRD1    Q6QNK2     VAR_077743  p.Ile410Val    Polymorphism  rs376489706    -
ADGRD1    Q6QNK2     VAR_077744  p.Pro411Ser    Polymorphism  rs147757048    -
ADGRD1    Q6QNK2     VAR_077745  p.Glu413Lys    Polymorphism  rs142628291    -
ADGRD1    Q6QNK2     VAR_077746  p.Ala419Val    Polymorphism  rs370959644    -
ADGRD1    Q6QNK2     VAR_077747  p.Gly425Ser    Polymorphism  rs374575404    -
ADGRD1    Q6QNK2     VAR_077748  p.Ala441Thr    Polymorphism  rs375271891    -
ADGRD1    Q6QNK2     VAR_077749  p.Ala448Asp    Polymorphism  rs200173874    -
ADGRD1    Q6QNK2     VAR_077750  p.His450Arg    Polymorphism  rs200060202    -
ADGRD1    Q6QNK2     VAR_077751  p.Asp453Asn    Polymorphism  rs149065791    -
ADGRD1    Q6QNK2     VAR_077752  p.Cys454Tyr    Polymorphism  rs143062748    -
ADGRD1    Q6QNK2     VAR_077753  p.Ala458Thr    Polymorphism  rs140426880    -
ADGRD1    Q6QNK2     VAR_077754  p.Ser464Ala    Polymorphism  rs78638447     -
ADGRD1    Q6QNK2     VAR_077755  p.Asn476Ser    Polymorphism  rs138163855    -
ADGRD1    Q6QNK2     VAR_077756  p.Ser478Leu    Polymorphism  rs372643228    -
ADGRD1    Q6QNK2     VAR_077757  p.Thr484Met    Polymorphism  rs149266247    -
ADGRD1    Q6QNK2     VAR_077758  p.Val485Ile    Polymorphism  rs369012277    -
ADGRD1    Q6QNK2     VAR_077759  p.Glu498Gly    Polymorphism  rs200576124    -
ADGRD1    Q6QNK2     VAR_077760  p.Ala499Ser    Polymorphism  rs150620459    -
ADGRD1    Q6QNK2     VAR_077761  p.Asn524Lys    Polymorphism  rs370443698    -
ADGRD1    Q6QNK2     VAR_077762  p.Val538Ala    Polymorphism  rs201849687    -
ADGRD1    Q6QNK2     VAR_077763  p.Val538Ile    Polymorphism  rs200971352    -
ADGRD1    Q6QNK2     VAR_077764  p.Arg540Cys    Polymorphism  rs147294464    -
ADGRD1    Q6QNK2     VAR_077765  p.Arg540His    Polymorphism  rs145630930    -
ADGRD1    Q6QNK2     VAR_077766  p.Arg560Cys    Polymorphism  rs371989819    -
ADGRD1    Q6QNK2     VAR_077767  p.Arg560His    Polymorphism  rs375179921    -
ADGRD1    Q6QNK2     VAR_077768  p.Ser567Leu    Polymorphism  rs192515185    -
ADGRD1    Q6QNK2     VAR_077769  p.Ile569Val    Polymorphism  rs139017446    -
ADGRD1    Q6QNK2     VAR_077770  p.Ala589Thr    Polymorphism  rs201161291    -
ADGRD1    Q6QNK2     VAR_077771  p.Val594Met    Polymorphism  rs189007948    -
ADGRD1    Q6QNK2     VAR_077772  p.Arg601His    Polymorphism  rs201524753    -
ADGRD1    Q6QNK2     VAR_077773  p.Leu608Met    Polymorphism  rs200052797    -
ADGRD1    Q6QNK2     VAR_077774  p.Arg624Cys    Polymorphism  rs117457351    -
ADGRD1    Q6QNK2     VAR_077775  p.Glu626Lys    Polymorphism  rs199778477    -
ADGRD1    Q6QNK2     VAR_077776  p.Thr630Ile    Polymorphism  rs145482553    -
ADGRD1    Q6QNK2     VAR_077777  p.Ser667Leu    Polymorphism  rs377401276    -
ADGRD1    Q6QNK2     VAR_077778  p.Arg673His    Polymorphism  rs141128784    -
ADGRD1    Q6QNK2     VAR_077779  p.Met695Thr    Polymorphism  rs143163307    -
ADGRD1    Q6QNK2     VAR_077780  p.Gly699Val    Polymorphism  -              -
ADGRD1    Q6QNK2     VAR_077781  p.Ala720Val    Polymorphism  rs141439159    -
ADGRD1    Q6QNK2     VAR_077782  p.Ala743Thr    Polymorphism  rs143902981    -
ADGRD1    Q6QNK2     VAR_077783  p.His749Arg    Polymorphism  rs372207677    -
ADGRD1    Q6QNK2     VAR_077784  p.Asp751Glu    Polymorphism  rs147763331    -
ADGRD1    Q6QNK2     VAR_077785  p.Ala761Glu    Polymorphism  rs369201469    -
ADGRD1    Q6QNK2     VAR_077786  p.Val764Met    Polymorphism  rs149434203    -
ADGRD1    Q6QNK2     VAR_077787  p.Val777Met    Polymorphism  rs144814859    -
ADGRD1    Q6QNK2     VAR_077788  p.Ala779Val    Polymorphism  rs61746588     -
ADGRD1    Q6QNK2     VAR_077789  p.Thr793Met    Polymorphism  rs375488636    -
ADGRD1    Q6QNK2     VAR_077790  p.Asn795Lys    Polymorphism  rs369853823    -
ADGRD1    Q6QNK2     VAR_077791  p.Ala816Thr    Polymorphism  rs368828722    -
ADGRD1    Q6QNK2     VAR_077792  p.Thr827Met    Polymorphism  rs371135988    -
ADGRD1    Q6QNK2     VAR_077793  p.Ala831Thr    Polymorphism  rs146661482    -
ADGRD1    Q6QNK2     VAR_077794  p.Ala836Thr    Polymorphism  rs144023497    -
ADGRD1    Q6QNK2     VAR_077795  p.Ala836Val    Polymorphism  rs367789023    -
ADGRD1    Q6QNK2     VAR_077796  p.Met851Thr    Polymorphism  rs78058857     -
ADGRD1    Q6QNK2     VAR_077797  p.Arg868His    Polymorphism  rs61740366     -
ADGRD1    Q6QNK2     VAR_077798  p.Val869Ile    Polymorphism  rs377434309    -
ADGRD1    Q6QNK2     VAR_077799  p.Asp870Asn    Polymorphism  rs143670024    -
ADGRD1    Q6QNK2     VAR_077800  p.Val874Met    Polymorphism  rs148442158    -
ADGRE1    Q14246     VAR_027616  p.Ala57Thr     Polymorphism  rs330877       -
ADGRE1    Q14246     VAR_027617  p.Ser140Arg    Polymorphism  rs330880       -
ADGRE1    Q14246     VAR_027618  p.Asp174Asn    Polymorphism  rs897738       -
ADGRE1    Q14246     VAR_027619  p.Asn254Ser    Polymorphism  rs443658       -
ADGRE1    Q14246     VAR_027620  p.Ala298Val    Polymorphism  rs370094       -
ADGRE1    Q14246     VAR_027621  p.Thr389Met    Polymorphism  rs466876       -
ADGRE1    Q14246     VAR_027622  p.Ile424Val    Polymorphism  rs457857       -
ADGRE1    Q14246     VAR_027623  p.Lys496Gln    Polymorphism  rs373533       -
ADGRE1    Q14246     VAR_027624  p.Ile539Val    Polymorphism  rs461645       -
ADGRE1    Q14246     VAR_027625  p.Val589Ile    Polymorphism  rs7256147      -
ADGRE1    Q14246     VAR_027626  p.Phe691Cys    Polymorphism  rs2229769      -
ADGRE1    Q14246     VAR_027627  p.Val724Leu    Polymorphism  rs10406580     -
ADGRE1    Q14246     VAR_046976  p.Arg2Leu      Polymorphism  rs34176643     -
ADGRE1    Q14246     VAR_046977  p.Met663Thr    Polymorphism  rs2228539      -
ADGRE2    Q9UHX3     VAR_026719  p.Thr605Ile    Polymorphism  rs4410209      -
ADGRE2    Q9UHX3     VAR_026720  p.Leu614Phe    Polymorphism  rs2524383      -
ADGRE2    Q9UHX3     VAR_026721  p.Ser665Phe    Polymorphism  rs3752187      -
ADGRE2    Q9UHX3     VAR_061229  p.Ala314Val    Polymorphism  rs35612307     -
ADGRE2    Q9UHX3     VAR_061230  p.Glu720Asp    Polymorphism  rs57865820     -
ADGRE2    Q9UHX3     VAR_078578  p.Cys492Tyr    Disease       rs199718602    Vibratory urticaria (VBU) [MIM:125630]
ADGRE3    Q9BY15     VAR_024472  p.Glu127Gln    Polymorphism  rs4606855      -
ADGRE3    Q9BY15     VAR_055926  p.Ala236Val    Polymorphism  rs34226397     -
ADGRE3    Q9BY15     VAR_060442  p.Arg385Gln    Polymorphism  rs45508602     -
ADGRF1    Q5T601     VAR_055928  p.Ile787Val    Polymorphism  rs1226475      -
ADGRF2    Q8IZF7     VAR_024473  p.Gln148Arg    Polymorphism  rs6907125      -
ADGRF2    Q8IZF7     VAR_024474  p.Ile467Val    Polymorphism  rs9381594      -
ADGRF3    Q8IZF5     VAR_024475  p.Ala404Thr    Polymorphism  rs2052937      -
ADGRF4    Q8IZF3     VAR_024476  p.Lys541Asn    Polymorphism  rs9369738      -
ADGRF4    Q8IZF3     VAR_036224  p.Ser674Leu    Unclassified  rs572583506    A breast cancer sample
ADGRF4    Q8IZF3     VAR_055930  p.Arg507Cys    Polymorphism  rs12110938     -
ADGRF5    Q8IZF2     VAR_024477  p.Met856Thr    Polymorphism  rs547499       -
ADGRF5    Q8IZF2     VAR_025326  p.Thr604Met    Polymorphism  rs586024       -
ADGRF5    Q8IZF2     VAR_055291  p.Val801Ile    Polymorphism  rs9395218      -
ADGRG1    Q9Y653     VAR_017910  p.Ser281Arg    Polymorphism  rs1801257      -
ADGRG1    Q9Y653     VAR_017911  p.Gln306His    Polymorphism  rs1801255      -
ADGRG1    Q9Y653     VAR_026242  p.Arg38Trp     Disease       rs121908462    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_026243  p.Tyr88Cys     Disease       rs121908466    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_026244  p.Cys91Ser     Disease       rs121908465    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_026245  p.Cys346Ser    Disease       rs121908463    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_026246  p.Arg565Trp    Disease       rs121908464    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_049457  p.Met493Thr    Polymorphism  rs17379472     -
ADGRG1    Q9Y653     VAR_049458  p.Pro527Leu    Polymorphism  rs16958679     -
ADGRG1    Q9Y653     VAR_069581  p.Arg38Gln     Disease       rs764367185    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_069582  p.Trp349Ser    Disease       -              Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_069583  p.Glu496Lys    Disease       rs556518689    Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG1    Q9Y653     VAR_069584  p.Leu640Arg    Disease       -              Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]
ADGRG2    Q8IZP9     VAR_055289  p.His290Gln    Polymorphism  rs35974297     -
ADGRG2    Q8IZP9     VAR_055290  p.Asn771Ser    Polymorphism  rs3924227      -
ADGRG2    Q8IZP9     VAR_076259  p.Pro224Ser    Polymorphism  rs140334931    -
ADGRG2    Q8IZP9     VAR_080773  p.Asn64Ser     Unclassified  rs746638813    -
ADGRG3    Q86Y34     VAR_055927  p.Ala430Thr    Polymorphism  rs2290178      -
ADGRG4    Q8IZF6     VAR_055929  p.Ile276Met    Polymorphism  rs4829829      -
ADGRG4    Q8IZF6     VAR_059329  p.Pro368His    Polymorphism  rs5930931      -
ADGRG4    Q8IZF6     VAR_059330  p.Thr1213Asn   Polymorphism  rs4829830      -
ADGRG4    Q8IZF6     VAR_059331  p.Ser1540Pro   Polymorphism  rs912002       -
ADGRG4    Q8IZF6     VAR_059332  p.Phe1791Leu   Polymorphism  rs5930932      -
ADGRG6    Q86SQ4     VAR_024478  p.Lys230Gln    Polymorphism  rs11155242     -
ADGRG6    Q86SQ4     VAR_054128  p.Ser123Gly    Polymorphism  rs17280293     -
ADGRG6    Q86SQ4     VAR_054129  p.Gln1127Arg   Polymorphism  rs1262686      -
ADGRG6    Q86SQ4     VAR_075146  p.Val741Glu    Disease       -              Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503]
ADGRG6    Q86SQ4     VAR_075147  p.Val769Glu    Disease       rs793888525    Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503]
ADGRG6    Q86SQ4     VAR_076965  p.Arg1057Gln   Polymorphism  rs536714306    -
ADGRG7    Q96K78     VAR_049459  p.Thr645Ser    Polymorphism  rs16842529     -
ADGRG7    Q96K78     VAR_049460  p.Arg756His    Polymorphism  rs9872512      -
ADGRG7    Q96K78     VAR_055138  p.Lys151Glu    Polymorphism  rs1144122      -
ADGRL1    O94910     VAR_049463  p.Glu595Gln    Polymorphism  rs34759320     -
ADGRL2    O95490     VAR_077836  p.Arg467Thr    Unclassified  -              -
ADGRL3    Q9HAR2     VAR_055934  p.Arg465Gln    Polymorphism  rs35106420     -
ADGRL3    Q9HAR2     VAR_064477  p.Ala247Ser    Polymorphism  -              -
ADGRL3    Q9HAR2     VAR_064478  p.Thr770Met    Polymorphism  -              -
ADGRL3    Q9HAR2     VAR_064479  p.Leu915Val    Polymorphism  -              -
ADGRL4    Q9HBW9     VAR_047072  p.Val300Leu    Polymorphism  rs12754818     -
ADGRL4    Q9HBW9     VAR_047073  p.His599Gln    Polymorphism  rs1968956      -
ADGRL4    Q9HBW9     VAR_047074  p.Ala620Gly    Polymorphism  rs2275902      -
ADGRV1    Q8WXG9     VAR_025995  p.Leu127Arg    Polymorphism  rs41311333     -
ADGRV1    Q8WXG9     VAR_025996  p.Arg249Lys    Polymorphism  rs41303344     -
ADGRV1    Q8WXG9     VAR_025997  p.Leu1093Phe   Polymorphism  rs2366777      -
ADGRV1    Q8WXG9     VAR_025998  p.Thr1927Met   Polymorphism  rs17544552     -
ADGRV1    Q8WXG9     VAR_025999  p.Val1951Ile   Polymorphism  rs4916684      -
ADGRV1    Q8WXG9     VAR_026000  p.Asn1985Asp   Polymorphism  rs41303352     -
ADGRV1    Q8WXG9     VAR_026001  p.Pro1987Leu   Polymorphism  rs4916685      -
ADGRV1    Q8WXG9     VAR_026002  p.Leu2004Phe   Polymorphism  rs16868972     -
ADGRV1    Q8WXG9     VAR_026003  p.Tyr2232Cys   Polymorphism  rs10037067     -
ADGRV1    Q8WXG9     VAR_026004  p.Asn2345Ser   Polymorphism  rs2366926      -
ADGRV1    Q8WXG9     VAR_026005  p.Gly2379Ala   Polymorphism  -              -
ADGRV1    Q8WXG9     VAR_026006  p.Asn2584Ser   Polymorphism  rs1878878      -
ADGRV1    Q8WXG9     VAR_026007  p.Ser2764Leu   Polymorphism  rs16869016     -
ADGRV1    Q8WXG9     VAR_026008  p.Ala2803Thr   Polymorphism  rs111033530    -
ADGRV1    Q8WXG9     VAR_026009  p.Ala3217Val   Polymorphism  rs114137750    -
ADGRV1    Q8WXG9     VAR_026010  p.Gly3248Asp   Polymorphism  rs16869032     -
ADGRV1    Q8WXG9     VAR_026011  p.Glu3471Lys   Polymorphism  rs2366928      -
ADGRV1    Q8WXG9     VAR_026012  p.Glu5344Gly   Polymorphism  rs2438374      -
ADGRV1    Q8WXG9     VAR_026013  p.Thr5437Ala   Polymorphism  rs770471921    -
ADGRV1    Q8WXG9     VAR_046346  p.Val551Ala    Polymorphism  rs6889939      -
ADGRV1    Q8WXG9     VAR_046347  p.Ile1187Val   Polymorphism  rs16868935     -
ADGRV1    Q8WXG9     VAR_046348  p.Thr1916Ile   Polymorphism  rs35791889     -
ADGRV1    Q8WXG9     VAR_046349  p.Arg2097Cys   Polymorphism  rs16868974     -
ADGRV1    Q8WXG9     VAR_046350  p.Val3094Ile   Polymorphism  rs13157270     -
ADGRV1    Q8WXG9     VAR_046351  p.Phe3347Leu   Polymorphism  rs10067636     -
ADGRV1    Q8WXG9     VAR_046352  p.Glu3867Ala   Polymorphism  rs16869088     -
ADGRV1    Q8WXG9     VAR_055933  p.Glu3868Ala   Polymorphism  rs16869088     -
ADGRV1    Q8WXG9     VAR_068032  p.Arg4789Trp   Disease       rs1131691924   Usher syndrome 2C (USH2C) [MIM:605472]
ADGRV1    Q8WXG9     VAR_068033  p.His5978Arg   Disease       rs756460900    Usher syndrome 2C (USH2C) [MIM:605472]
ADH1B     P00325     VAR_000426  p.Arg48His     Polymorphism  rs1229984      -
ADH1B     P00325     VAR_000427  p.Arg370Cys    Polymorphism  rs2066702      -
ADH1B     P00325     VAR_019322  p.Asn57Lys     Polymorphism  rs1041969      -
ADH1B     P00325     VAR_019323  p.Thr60Ser     Polymorphism  rs6413413      -
ADH1C     P00326     VAR_000428  p.Arg272Gln    Polymorphism  rs1693482      -
ADH1C     P00326     VAR_000429  p.Ile350Val    Polymorphism  rs698          -
ADH1C     P00326     VAR_023992  p.Arg48His     Polymorphism  rs35385902     -
ADH1C     P00326     VAR_023993  p.Pro166Ser    Polymorphism  rs34195308     -
ADH1C     P00326     VAR_023994  p.Pro352Thr    Polymorphism  rs35719513     -
ADH4      P08319     VAR_023461  p.Ile309Val    Polymorphism  rs1126671      -
ADH4      P08319     VAR_023462  p.Arg318His    Polymorphism  rs29001219     -
ADH4      P08319     VAR_023463  p.Val374Ile    Polymorphism  rs1126673      -
ADH5      P11766     VAR_025823  p.Leu163Ser    Polymorphism  rs28730623     -
ADH5      P11766     VAR_025824  p.Val309Ile    Polymorphism  rs28730628     -
ADH5      P11766     VAR_048199  p.Asp353Glu    Polymorphism  rs16996593     -
ADH6      P28332     VAR_022655  p.Cys102Gly    Polymorphism  rs28720152     -
ADH6      P28332     VAR_022656  p.Ile114Val    Polymorphism  rs28720153     -
ADH6      P28332     VAR_048198  p.Thr151Pro    Polymorphism  rs34582580     -
ADH7      P40394     VAR_024364  p.Gly92Ala     Polymorphism  rs1573496      -
ADHFE1    Q8IWW8     VAR_039470  p.Asp242Val    Unclassified  -              A breast cancer sample
ADHFE1    Q8IWW8     VAR_054015  p.Cys449Arg    Polymorphism  rs1060242      -
ADIPOQ    Q15848     VAR_013273  p.Gly84Arg     Polymorphism  rs199646033    -
ADIPOQ    Q15848     VAR_013274  p.Arg112Cys    Disease       rs121917815    Adiponectin deficiency (ADPND) [MIM:612556]
ADIPOQ    Q15848     VAR_013275  p.Val117Met    Polymorphism  rs747223144    -
ADIPOQ    Q15848     VAR_013276  p.Ile164Thr    Polymorphism  rs185847354    -
ADIPOQ    Q15848     VAR_013277  p.Arg221Ser    Polymorphism  rs138773406    -
ADIPOQ    Q15848     VAR_013278  p.His241Pro    Polymorphism  rs141205818    -
ADIPOQ    Q15848     VAR_027395  p.Gly90Ser     Polymorphism  rs62625753     -
ADIPOQ    Q15848     VAR_027396  p.Tyr111His    Polymorphism  rs17366743     -
ADIPOR2   Q86V24     VAR_048203  p.Gln39Arg     Polymorphism  rs12298275     -
ADK       P55263     VAR_066640  p.Gly30Glu     Disease       rs397514454    Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
ADK       P55263     VAR_066641  p.Asp235Ala    Disease       rs397514453    Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
ADK       P55263     VAR_066642  p.Ala318Glu    Disease       rs397514452    Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
ADM       P35318     VAR_014861  p.Ser50Arg     Polymorphism  rs5005         -
ADM       P35318     VAR_048205  p.Pro85Arg     Polymorphism  rs2228573      -
ADNP      Q9H2P0     VAR_078696  p.Gly1094Val   Unclassified  rs780706686    -
ADO       Q96SZ5     VAR_025333  p.Gly25Trp     Polymorphism  rs2236295      -
ADO       Q96SZ5     VAR_025334  p.Pro39Ala     Polymorphism  rs10995311     -
ADO       Q96SZ5     VAR_033691  p.Pro266Ser    Polymorphism  rs569705       -
ADORA1    P30542     VAR_035754  p.Glu170Lys    Unclassified  rs899207013    A colorectal cancer sample
ADORA1    P30542     VAR_044138  p.Ala43Ser     Polymorphism  rs11547175     -
ADORA1    P30542     VAR_044139  p.Ser50Pro     Polymorphism  rs11547174     -
ADORA1    P30542     VAR_044140  p.Arg105His    Polymorphism  rs11547176     -
ADORA1    P30542     VAR_044141  p.Pro261Gln    Polymorphism  rs17852405     -
ADORA1    P30542     VAR_078549  p.Gly279Ser    Unclassified  rs748346254    -
ADORA2A   P29274     VAR_003451  p.Gly392Arg    Polymorphism  rs1277013918   -
ADORA2A   P29274     VAR_011835  p.Ala50Val     Polymorphism  rs4530         -
ADORA2A   P29274     VAR_011836  p.Arg300His    Polymorphism  rs4990         -
ADORA3    P0DMS8     VAR_035755  p.Ala105Thr    Unclassified  rs746154553    A colorectal cancer sample
ADORA3    P0DMS8     VAR_049366  p.Ile248Leu    Polymorphism  rs35511654     -
ADORA3    P0DMS8     VAR_049367  p.Met266Lys    Polymorphism  rs2800889      -
ADPGK     Q9BRR6     VAR_060085  p.Lys184Arg    Polymorphism  rs8024644      -
ADPRHL1   Q8NDY3     VAR_048890  p.Ala7Val      Polymorphism  rs9577273      -
ADPRHL2   Q9NX46     VAR_030579  p.Glu209Lys    Polymorphism  rs2236387      -
ADPRHL2   Q9NX46     VAR_081264  p.Asp34Asn     Unclassified  -              Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
ADPRHL2   Q9NX46     VAR_081265  p.Thr79Pro     Disease       -              Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
ADPRHL2   Q9NX46     VAR_081267  p.Ser177Leu    Unclassified  rs200626873    Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
ADPRHL2   Q9NX46     VAR_081270  p.Val335Gly    Disease       rs201735454    Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) [MIM:618170]
ADPRM     Q3LIE5     VAR_032125  p.Leu92Arg     Polymorphism  rs34940296     -
ADPRM     Q3LIE5     VAR_032126  p.Glu337Gly    Polymorphism  rs406446       -
ADRA1A    P35348     VAR_019509  p.Cys347Arg    Polymorphism  rs1048101      -
ADRA1A    P35348     VAR_035756  p.Gly40Trp     Unclassified  -              A breast cancer sample
ADRA1A    P35348     VAR_049370  p.Ile200Ser    Polymorphism  rs2229125      -
ADRA1A    P35348     VAR_049371  p.Lys414Arg    Polymorphism  rs3730247      -
ADRA1A    P35348     VAR_049372  p.Glu465Asp    Polymorphism  rs2229126      -
ADRA1B    P35368     VAR_019510  p.Val51Gly     Polymorphism  rs8192448      -
ADRA2A    P08913     VAR_014957  p.Asn251Lys    Polymorphism  rs1800035      -
ADRA2A    P08913     VAR_055908  p.Cys401Ser    Polymorphism  rs35658213     -
ADRA2B    P18089     VAR_025099  p.Gly211Ala    Polymorphism  rs9333568      -
ADRA2B    P18089     VAR_025100  p.Val379Gly    Polymorphism  rs527655811    -
ADRA2B    P18089     VAR_033462  p.Val376Ile    Polymorphism  rs1431850417   -
ADRA2B    P18089     VAR_033463  p.Val379Ile    Polymorphism  rs29000569     -
ADRB1     P08588     VAR_009879  p.Ser49Gly     Polymorphism  rs1801252      -
ADRB1     P08588     VAR_009880  p.Arg389Gly    Polymorphism  rs1801253      -
ADRB1     P08588     VAR_018742  p.Arg389Leu    Polymorphism  rs17875445     -
ADRB1     P08588     VAR_055909  p.Ala26Val     Polymorphism  rs34844626     -
ADRB1     P08588     VAR_055910  p.Ala29Thr     Polymorphism  rs35720093     -
ADRB1     P08588     VAR_055911  p.Arg31Gln     Polymorphism  rs35230616     -
ADRB1     P08588     VAR_055912  p.Arg399His    Polymorphism  rs36052953     -
ADRB1     P08588     VAR_055913  p.His405Tyr    Polymorphism  rs35705839     -
ADRB2     P07550     VAR_003452  p.Gly16Arg     Polymorphism  rs1042713      -
ADRB2     P07550     VAR_003453  p.Glu27Gln     Polymorphism  rs1042714      -
ADRB2     P07550     VAR_003454  p.Val34Met     Polymorphism  rs990810566    -
ADRB2     P07550     VAR_003455  p.Thr164Ile    Polymorphism  rs1800888      -
ADRB2     P07550     VAR_009124  p.Ile159Leu    Polymorphism  -              -
ADRB2     P07550     VAR_009125  p.Ile159Phe    Polymorphism  -              -
ADRB2     P07550     VAR_009394  p.Lys375Arg    Polymorphism  rs771585355    -
ADRB2     P07550     VAR_025101  p.Ser220Cys    Polymorphism  rs3729943      -
ADRB2     P07550     VAR_049373  p.Asn15Ser     Polymorphism  rs33973603     -
ADRB3     P13945     VAR_003456  p.Trp64Arg     Polymorphism  rs4994         -
ADRB3     P13945     VAR_014166  p.Thr265Met    Polymorphism  rs4995         -
ADRB3     P13945     VAR_025102  p.Arg353Cys    Polymorphism  rs36031925     -
ADRB3     P13945     VAR_029205  p.Glu249Lys    Polymorphism  rs28364012     -
ADSL      P30566     VAR_000680  p.Ser438Pro    Disease       rs119450940    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007972  p.Ile72Val     Disease       -              Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007973  p.Arg141Trp    Disease       rs756210458    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007974  p.Arg190Gln    Disease       rs28941471     Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007975  p.Lys246Glu    Disease       rs119450944    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007976  p.Arg303Cys    Disease       rs373458753    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007977  p.Ser395Arg    Disease       -              Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_007978  p.Arg426His    Disease       rs119450941    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_016930  p.Ala2Val      Disease       rs143083947    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_016931  p.Met26Leu     Disease       rs1311171245   Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_016932  p.Thr450Ser    Disease       rs372895468    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017078  p.Ala3Val      Disease       -              Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017079  p.Pro100Ala    Disease       rs119450942    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017080  p.Tyr114His    Disease       rs374259530    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017081  p.Arg194Cys    Disease       rs1465152683   Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017082  p.Asp268Asn    Disease       rs746501563    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017083  p.Leu311Val    Disease       -              Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017084  p.Pro318Leu    Disease       rs202064195    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017085  p.Val364Met    Disease       rs370851726    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017086  p.Arg374Trp    Disease       rs376533026    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017087  p.Arg396Cys    Disease       rs755492501    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017088  p.Arg396His    Disease       rs763542069    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017089  p.Asp422Tyr    Disease       rs119450943    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017090  p.Leu423Val    Disease       -              Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017091  p.Asp430Asn    Disease       rs554254383    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017092  p.Ser447Pro    Disease       rs777821034    Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_017093  p.Arg452Pro    Disease       -              Adenylosuccinase deficiency (ADSLD) [MIM:103050]
ADSL      P30566     VAR_037883  p.Ser31Asn     Polymorphism  rs5757921      -
ADSL      P30566     VAR_037884  p.Lys147Met    Polymorphism  rs11089991     -
ADSS      P30520     VAR_051881  p.Leu179Phe    Polymorphism  rs12134870     -
ADSSL1    Q8N142     VAR_076998  p.Asp261Asn    Disease       rs140614802    Myopathy, distal, 5 (MPD5) [MIM:617030]
ADTRP     Q96IZ2     VAR_024365  p.Val202Ile    Polymorphism  rs2076185      -
AEBP1     Q8IUX7     VAR_043118  p.Pro273Thr    Polymorphism  rs2537188      -
AEBP1     Q8IUX7     VAR_043119  p.Asp648Glu    Polymorphism  rs11770649     -
AEBP1     Q8IUX7     VAR_043120  p.Pro1001Leu   Polymorphism  rs4724285      -
AEBP1     Q8IUX7     VAR_043121  p.Lys1133Glu   Polymorphism  rs13928        -
AEBP1     Q8IUX7     VAR_043122  p.Val1148Ile   Polymorphism  rs13898        -
AEN       Q8WTP8     VAR_039651  p.Pro15Leu     Polymorphism  rs3743477      -
AEN       Q8WTP8     VAR_039652  p.Ser88Cys     Polymorphism  rs8026929      -
AEN       Q8WTP8     VAR_039653  p.Asn140Asp    Polymorphism  rs8027765      -
AFAP1     Q8N556     VAR_038578  p.Ser403Cys    Polymorphism  rs28406288     -
AFAP1     Q8N556     VAR_038579  p.Val518Met    Polymorphism  rs41264705     -
AFAP1L2   Q8N4X5     VAR_050505  p.Gly138Arg    Polymorphism  rs11196689     -
AFAP1L2   Q8N4X5     VAR_050506  p.Ser366Arg    Polymorphism  rs7075067      -
AFAP1L2   Q8N4X5     VAR_050507  p.Thr522Ser    Polymorphism  rs2781806      -
AFAP1L2   Q8N4X5     VAR_054214  p.Glu726Lys    Polymorphism  rs11599051     -
AFF1      P51825     VAR_020370  p.Pro209Ala    Polymorphism  rs3733378      -
AFF1      P51825     VAR_036130  p.Gln1204Lys   Unclassified  -              A breast cancer sample
AFF2      P51816     VAR_028217  p.Leu1185Met   Polymorphism  rs12858959     -
AFF3      P51826     VAR_030805  p.Asn358Ser    Polymorphism  rs4851223      -
AFF3      P51826     VAR_030806  p.Asn494Ser    Polymorphism  rs1047265      -
AFF3      P51826     VAR_080758  p.Gly1215Val   Unclassified  -              -
AFF4      Q9UHB7     VAR_053003  p.Thr136Pro    Polymorphism  rs34527550     -
AFF4      Q9UHB7     VAR_064693  p.Ser757Thr    Unclassified  -              -
AFF4      Q9UHB7     VAR_073790  p.Thr254Ala    Disease       rs786205233    CHOPS syndrome (CHOPS) [MIM:616368]
AFF4      Q9UHB7     VAR_073791  p.Thr254Ser    Disease       rs786205679    CHOPS syndrome (CHOPS) [MIM:616368]
AFF4      Q9UHB7     VAR_073792  p.Arg258Trp    Disease       rs786205680    CHOPS syndrome (CHOPS) [MIM:616368]
AFG3L2    Q9Y4W6     VAR_063544  p.Asn432Thr    Disease       rs151344512    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_063545  p.Glu691Lys    Disease       rs151344520    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_063546  p.Ala694Glu    Disease       rs151344521    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_063547  p.Arg702Gln    Disease       rs151344523    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064402  p.Thr654Ile    Disease       rs151344513    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064403  p.Met666Arg    Disease       rs151344515    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064404  p.Met666Thr    Disease       rs151344515    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064405  p.Met666Val    Disease       rs151344514    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064406  p.Gly671Glu    Disease       rs151344518    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064407  p.Gly671Arg    Disease       rs151344517    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064408  p.Glu700Lys    Disease       rs151344522    Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_067330  p.Tyr616Cys    Disease       rs387906889    Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487]
AFG3L2    Q9Y4W6     VAR_075198  p.Tyr689His    Disease       -              Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_075199  p.Tyr689Asn    Disease       -              Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_080736  p.Leu621Val    Unclassified  -              Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFM       P43652     VAR_048218  p.Thr404Ser    Polymorphism  rs2276444      -
AFM       P43652     VAR_061003  p.Arg395His    Polymorphism  rs41265665     -
AFP       P02771     VAR_012049  p.Ala570Gly    Polymorphism  rs7790         -
AFP       P02771     VAR_033928  p.Lys187Gln    Polymorphism  rs35765619     -
AFTPH     Q6ULP2     VAR_056728  p.Asp233Gly    Polymorphism  rs35986567     -
AFTPH     Q6ULP2     VAR_056729  p.Glu301Lys    Polymorphism  rs3770740      -
AFTPH     Q6ULP2     VAR_056730  p.Asn550Ser    Polymorphism  rs3770739      -
AGA       P20933     VAR_005069  p.Gly60Asp     Disease       rs121964907    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005070  p.Ser72Pro     Disease       rs121964909    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005071  p.Ala101Val    Disease       rs121964908    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005072  p.Arg161Gln    Disease       rs192195150    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005073  p.Cys163Ser    Disease       rs121964904    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005074  p.Gly302Arg    Disease       rs121964905    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005075  p.Cys306Arg    Disease       rs121964906    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015427  p.Val12Leu     Unclassified  rs74626221     Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015428  p.Gly100Glu    Disease       rs386833421    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015429  p.Phe135Ser    Disease       rs386833427    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015430  p.Gly252Glu    Disease       rs386833433    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015431  p.Gly252Arg    Disease       rs386833432    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015432  p.Thr257Ile    Disease       rs386833434    Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_033533  p.Thr149Ser    Polymorphism  rs2228119      -
AGA       P20933     VAR_061026  p.Thr322Ile    Polymorphism  rs56849061     -
AGAP1     Q9UPQ3     VAR_019550  p.Glu829Lys    Polymorphism  rs15718        -
AGAP1     Q9UPQ3     VAR_026446  p.Ser82Gly     Unclassified  -              -
AGAP1     Q9UPQ3     VAR_026447  p.Asp148Gly    Polymorphism  rs17855721     -
AGAP1     Q9UPQ3     VAR_026448  p.Val671Ile    Polymorphism  rs2034648      -
AGAP1     Q9UPQ3     VAR_026449  p.Arg798Gly    Polymorphism  rs762355360    -
AGAP1     Q9UPQ3     VAR_026450  p.Pro854Thr    Polymorphism  rs368301945    -
AGAP11    Q8TF27     VAR_042518  p.Ile82Val     Polymorphism  rs2641563      -
AGAP2     Q99490     VAR_022046  p.Gly507Ser    Polymorphism  rs2301553      -
AGAP2     Q99490     VAR_026438  p.Val455Ala    Unclassified  -              A glioblastoma cell line
AGAP2     Q99490     VAR_026439  p.Arg518Gly    Unclassified  -              A sarcoma cell line
AGAP2     Q99490     VAR_026440  p.Thr568Ile    Unclassified  -              -
AGAP2     Q99490     VAR_026441  p.Ala651Val    Unclassified  -              A glioblastoma cell line
AGAP2     Q99490     VAR_026442  p.Glu767Val    Unclassified  -              A glioblastoma cell line
AGAP2     Q99490     VAR_026443  p.Asn939Asp    Unclassified  -              A glioblastoma cell line
AGAP2     Q99490     VAR_026444  p.Val947Met    Unclassified  -              A sarcoma cell line
AGAP2     Q99490     VAR_026445  p.Ser1022Pro   Unclassified  -              A glioblastoma cell line
AGAP2     Q99490     VAR_036183  p.Thr339Ala    Unclassified  -              A breast cancer sample
AGAP2     Q99490     VAR_036184  p.Asp816Tyr    Unclassified  -              A breast cancer sample
AGAP2     Q99490     VAR_055532  p.Gly1124Val   Polymorphism  rs238521       -
AGAP4     Q96P64     VAR_031804  p.Lys661Glu    Polymorphism  rs15718        -
AGBL1     Q96MI9     VAR_048604  p.Pro463Leu    Polymorphism  rs8029810      -
AGBL1     Q96MI9     VAR_048605  p.Ser481Pro    Polymorphism  rs11857527     -
AGBL1     Q96MI9     VAR_059195  p.Gln1056Arg   Polymorphism  rs8028043      -
AGBL1     Q96MI9     VAR_070225  p.Cys1036Ser   Disease       rs181958589    Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523]
AGBL2     Q5U5Z8     VAR_031572  p.Arg349His    Polymorphism  rs7941404      -
AGBL2     Q5U5Z8     VAR_046637  p.Ile90Arg     Polymorphism  rs12795414     -
AGBL2     Q5U5Z8     VAR_046638  p.Thr333Pro    Polymorphism  rs35898124     -
AGBL2     Q5U5Z8     VAR_046639  p.Asp368Gly    Polymorphism  rs1870545      -
AGBL2     Q5U5Z8     VAR_046640  p.Met671Ile    Polymorphism  rs12286721     -
AGBL3     Q8NEM8     VAR_031573  p.Phe45Tyr     Polymorphism  rs2348049      -
AGBL3     Q8NEM8     VAR_031574  p.Glu122Gln    Polymorphism  rs4236655      -
AGBL3     Q8NEM8     VAR_031575  p.Thr360Ile    Polymorphism  rs17804854     -
AGBL4     Q5VU57     VAR_061078  p.Val443Met    Polymorphism  rs60977321     -
AGBL5     Q8NDL9     VAR_035231  p.Gly649Asp    Polymorphism  rs35804461     -
AGBL5     Q8NDL9     VAR_077018  p.Arg276Trp    Disease       rs879253769    Retinitis pigmentosa 75 (RP75) [MIM:617023]
AGBL5     Q8NDL9     VAR_077019  p.Asp295Asn    Disease       rs879253768    Retinitis pigmentosa 75 (RP75) [MIM:617023]
AGBL5     Q8NDL9     VAR_079522  p.Pro108Arg    Unclassified  -              Retinitis pigmentosa 75 (RP75) [MIM:617023]
AGBL5     Q8NDL9     VAR_079523  p.Val251Gly    Unclassified  -              Retinitis pigmentosa 75 (RP75) [MIM:617023]
AGBL5     Q8NDL9     VAR_079524  p.Arg281Cys    Unclassified  rs780394281    Retinitis pigmentosa 75 (RP75) [MIM:617023]
AGER      Q15109     VAR_011338  p.Gln100Arg    Polymorphism  -              -
AGER      Q15109     VAR_024500  p.Gly82Ser     Polymorphism  rs2070600      -
AGFG2     O95081     VAR_050566  p.Thr365Asn    Polymorphism  rs34731997     -
AGGF1     Q8N302     VAR_017901  p.Glu133Lys    Disease       rs34203073     Klippel-Trenaunay syndrome (KTS) [MIM:149000]
AGGF1     Q8N302     VAR_017902  p.Pro698Thr    Polymorphism  rs34400049     -
AGGF1     Q8N302     VAR_037446  p.Thr180Ala    Polymorphism  rs9715897      -
AGGF1     Q8N302     VAR_037447  p.Leu471Pro    Polymorphism  rs17856835     -
AGK       Q53H12     VAR_027848  p.Val3Met      Polymorphism  rs10262855     -
AGL       P35573     VAR_009230  p.Gly1115Arg   Polymorphism  rs2230307      -
AGL       P35573     VAR_009231  p.Gly1448Arg   Disease       rs118203964    Glycogen storage disease 3 (GSD3) [MIM:232400]
AGL       P35573     VAR_009621  p.Arg387Gln    Polymorphism  rs17121464     -
AGL       P35573     VAR_009622  p.Glu1343Lys   Polymorphism  rs112795811    -
AGL       P35573     VAR_020389  p.Pro1067Ser   Polymorphism  rs3753494      -
AGL       P35573     VAR_028051  p.Gln229Arg    Polymorphism  rs17121403     -
AGL       P35573     VAR_028052  p.Ala701Ser    Polymorphism  rs3736297      -
AGL       P35573     VAR_028053  p.Ile1144Asn   Polymorphism  rs2230308      -
AGL       P35573     VAR_028054  p.Arg1253His   Polymorphism  rs12043139     -
AGL       P35573     VAR_028055  p.Arg1487Gly   Polymorphism  rs12118058     -
AGL       P35573     VAR_032084  p.Thr38Ala     Polymorphism  rs35278779     -
AGL       P35573     VAR_032085  p.Ser962Cys    Polymorphism  rs34714252     -
AGL       P35573     VAR_051010  p.Ala1207Thr   Polymorphism  rs11807956     -
AGMAT     Q9BSE5     VAR_023485  p.Gly105Arg    Polymorphism  rs6429757      -
AGMAT     Q9BSE5     VAR_048332  p.Arg140Gln    Polymorphism  rs11580170     -
AGMO      Q6ZNB7     VAR_062201  p.Phe279Leu    Polymorphism  rs58564185     -
AGMO      Q6ZNB7     VAR_062202  p.Ser280Tyr    Polymorphism  rs59160822     -
AGO1      Q9UL18     VAR_078651  p.Gly199Ser    Disease       -              -
AGPAT1    Q99943     VAR_050593  p.Pro30Ser     Polymorphism  rs11964847     -
AGPAT2    O15120     VAR_017325  p.Ala239Val    Disease       rs145975461    Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
AGPAT2    O15120     VAR_017327  p.Leu228Pro    Disease       rs104894100    Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
AGPAT2    O15120     VAR_017328  p.Gly136Arg    Disease       rs797045222    Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
AGPAT5    Q9NUQ2     VAR_022696  p.Tyr77Cys     Polymorphism  rs17077958     -
AGPS      O00116     VAR_005002  p.Arg419His    Disease       rs121434411    Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_025895  p.Thr309Ile    Disease       rs121434412    Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_025896  p.Leu469Pro    Disease       rs121434413    Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_066929  p.Arg182Gln    Disease       -              Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_066930  p.Glu471Lys    Disease       -              Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_066931  p.Thr568Met    Disease       rs387907214    Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGRN      O00468     VAR_048966  p.Val1666Ile   Polymorphism  rs17160775     -
AGRN      O00468     VAR_068724  p.Val23Leu     Polymorphism  -              -
AGRN      O00468     VAR_068725  p.Asp58Asn     Polymorphism  -              -
AGRN      O00468     VAR_068726  p.Asn105Ile    Disease       -              Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
AGRN      O00468     VAR_068727  p.Thr267Met    Polymorphism  -              -
AGRN      O00468     VAR_068728  p.Ala375Ser    Polymorphism  rs138031468    -
AGRN      O00468     VAR_068729  p.Glu728Val    Polymorphism  rs113288277    -
AGRN      O00468     VAR_068730  p.Gln852Arg    Polymorphism  rs9697293      -
AGRN      O00468     VAR_068731  p.Val984Met    Polymorphism  -              -
AGRN      O00468     VAR_068732  p.Leu1088Phe   Polymorphism  rs150132566    -
AGRN      O00468     VAR_068733  p.Thr1118Lys   Polymorphism  rs149159118    -
AGRN      O00468     VAR_068734  p.Gln1135Arg   Polymorphism  rs142416636    -
AGRN      O00468     VAR_068735  p.Pro1240Leu   Polymorphism  rs142620337    -
AGRN      O00468     VAR_068736  p.Gly1341Arg   Polymorphism  -              -
AGRN      O00468     VAR_068737  p.Pro1451Leu   Polymorphism  -              -
AGRN      O00468     VAR_068738  p.Ala1514Thr   Polymorphism  rs111818381    -
AGRN      O00468     VAR_068739  p.Gln1565His   Polymorphism  rs199876002    -
AGRN      O00468     VAR_068740  p.Arg1671Gln   Polymorphism  -              -
AGRN      O00468     VAR_068741  p.Arg1698Pro   Polymorphism  -              -
AGRN      O00468     VAR_068742  p.Gly1709Arg   Disease       -              Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
AGRN      O00468     VAR_068743  p.Arg1734His   Polymorphism  rs145444272    -
AGRN      O00468     VAR_068744  p.Asp1789Asn   Polymorphism  -              -
AGRN      O00468     VAR_068745  p.Gly2046Val   Polymorphism  -              -
AGRN      O00468     VAR_069066  p.Val1727Phe   Disease       -              Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
AGRN      O00468     VAR_071367  p.Gly76Ser     Disease       -              Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
AGRN      O00468     VAR_071368  p.Ala745Val    Polymorphism  -              -
AGRN      O00468     VAR_071369  p.Gly1875Arg   Disease       -              Myasthenic syndrome, congenital, 8 (CMS8) [MIM:615120]
AGRP      O00253     VAR_015385  p.Ala67Thr     Polymorphism  rs5030980      -
AGT       P01019     VAR_007093  p.Thr207Met    Polymorphism  rs4762         -
AGT       P01019     VAR_007094  p.Thr242Ile    Polymorphism  rs765678426    -
AGT       P01019     VAR_007095  p.Leu244Arg    Polymorphism  rs5041         -
AGT       P01019     VAR_007096  p.Met268Thr    Polymorphism  rs699          -
AGT       P01019     VAR_007097  p.Tyr281Cys    Polymorphism  rs56073403     -
AGT       P01019     VAR_014573  p.Leu392Met    Polymorphism  rs1805090      -
AGT       P01019     VAR_022933  p.Leu43Phe     Polymorphism  rs41271499     -
AGT       P01019     VAR_029166  p.Glu98Lys     Polymorphism  rs11568032     -
AGT       P01019     VAR_029167  p.Met268Ile    Polymorphism  rs11568053     -
AGT       P01019     VAR_035431  p.Thr137Met    Polymorphism  rs34829218     -
AGT       P01019     VAR_035432  p.Pro335Ser    Polymorphism  rs17856352     -
AGT       P01019     VAR_035433  p.Arg375Gln    Disease       rs74315283     Renal tubular dysgenesis (RTD) [MIM:267430]
AGT       P01019     VAR_051939  p.Gly114Cys    Polymorphism  rs2229389      -
AGTPBP1   Q9UPW5     VAR_036884  p.Glu423Lys    Unclassified  -              A colorectal cancer sample
AGTPBP1   Q9UPW5     VAR_081909  p.Tyr694Asp    Disease       -              Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
AGTPBP1   Q9UPW5     VAR_081911  p.Arg799Cys    Unclassified  -              Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
AGTPBP1   Q9UPW5     VAR_081912  p.Thr851Met    Disease       -              Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
AGTPBP1   Q9UPW5     VAR_081914  p.Arg910Cys    Unclassified  -              Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
AGTPBP1   Q9UPW5     VAR_081915  p.Arg918Trp    Disease       -              Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
AGTPBP1   Q9UPW5     VAR_081916  p.His990Leu    Disease       -              Neurodegeneration, childhood-onset, with cerebellar atrophy (CONDCA) [MIM:618276]
AGTR1     P30556     VAR_011847  p.Cys289Trp    Polymorphism  rs1064533      -
AGTR1     P30556     VAR_011848  p.Thr336Pro    Polymorphism  rs1801021      -
AGTR1     P30556     VAR_029206  p.Ala163Thr    Polymorphism  rs12721226     -
AGTR1     P30556     VAR_029207  p.Ala244Ser    Polymorphism  rs12721225     -
AGTR1     P30556     VAR_035086  p.Thr282Met    Disease       rs104893677    Renal tubular dysgenesis (RTD) [MIM:267430]
AGTR1     P30556     VAR_070375  p.Leu222Val    Polymorphism  rs17852013     -
AGTR1     P30556     VAR_070376  p.Pro341His    Polymorphism  rs17852012     -
AGTR2     P50052     VAR_011849  p.Arg248Lys    Polymorphism  rs5191         -
AGTR2     P50052     VAR_011850  p.Cys268Trp    Polymorphism  rs1042860      -
AGTR2     P50052     VAR_049374  p.Tyr231His    Polymorphism  rs3729977      -
AGTR2     P50052     VAR_065946  p.Gly21Val     Unclassified  rs121917810    -
AGTR2     P50052     VAR_065947  p.Arg324Gln    Unclassified  rs35474657     -
AGTR2     P50052     VAR_065948  p.Ile337Val    Unclassified  rs121917811    -
AGTRAP    Q6RW13     VAR_023075  p.Ala143Val    Polymorphism  rs17875960     -
AGXT      P21549     VAR_000587  p.Pro11Leu     Polymorphism  rs34116584     -
AGXT      P21549     VAR_000588  p.Gly41Arg     Disease       rs121908523    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000589  p.Phe152Ile    Disease       rs121908524    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000590  p.Gly170Arg    Disease       rs121908529    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000591  p.Ser187Phe    Disease       rs180177238    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000592  p.Ser205Pro    Disease       rs121908520    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000593  p.Ile340Met    Polymorphism  rs4426527      -
AGXT      P21549     VAR_008878  p.Gly82Glu     Disease       rs121908522    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_008879  p.Arg233Cys    Disease       rs121908526    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_008880  p.Arg233His    Disease       rs121908527    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_008881  p.Ile244Thr    Disease       rs121908525    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_010969  p.Gly41Val     Disease       rs180177168    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_010971  p.Gly116Arg    Disease       rs180177207    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_010972  p.Gly156Arg    Disease       rs121908530    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_010973  p.Asp183Asn    Disease       rs180177236    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_048236  p.Asn22Ser     Polymorphism  rs34885252     -
AGXT      P21549     VAR_048237  p.Ala295Thr    Polymorphism  rs13408961     -
AGXT      P21549     VAR_060547  p.Thr9Asn      Polymorphism  rs115014558    -
AGXT      P21549     VAR_060548  p.Gly82Arg     Disease       rs180177185    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060549  p.Trp108Arg    Disease       rs180177197    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060550  p.Ala112Asp    Disease       rs796052061    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060552  p.Leu153Val    Disease       rs180177223    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060553  p.Ser158Leu    Disease       rs180177225    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060554  p.Gly161Arg    Disease       rs180177227    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060555  p.Cys173Tyr    Disease       rs180177231    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060556  p.Gly190Arg    Disease       rs180177239    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060557  p.Met195Arg    Disease       rs180177244    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060558  p.Asp201Glu    Disease       rs180177246    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060559  p.Ser218Leu    Disease       rs180177253    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060560  p.Arg233Leu    Disease       rs121908527    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060561  p.Asp243His    Disease       rs180177258    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060562  p.Cys253Arg    Disease       rs180177264    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060563  p.Ile279Met    Disease       rs180177277    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060564  p.Ile279Thr    Polymorphism  rs140992177    -
AGXT      P21549     VAR_060565  p.Ala280Val    Polymorphism  rs73106685     -
AGXT      P21549     VAR_060566  p.Ser287Thr    Disease       rs180177289    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060567  p.Arg289Cys    Disease       rs180177290    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060569  p.Leu298Pro    Disease       rs180177293    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060570  p.Val326Ile    Polymorphism  rs115057148    -
AGXT      P21549     VAR_060571  p.Val336Asp    Disease       rs180177155    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060572  p.Gly350Asp    Disease       rs180177156    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074582  p.Arg36Cys     Disease       rs180177157    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074583  p.Gly41Glu     Disease       rs180177168    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074584  p.Gly47Arg     Disease       rs180177173    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074585  p.Leu150Pro    Disease       rs180177222    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074586  p.Gly161Cys    Disease       rs180177227    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074587  p.Gly161Ser    Disease       rs180177227    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074588  p.Leu166Pro    Disease       rs180177230    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_074589  p.Ile202Asn    Unclassified  rs536352238    Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT2     Q9BYV1     VAR_022140  p.Val140Ile    Polymorphism  rs37369        -
AGXT2     Q9BYV1     VAR_022141  p.Thr212Ile    Polymorphism  rs180749       -
AGXT2     Q9BYV1     VAR_023483  p.Ser102Asn    Polymorphism  rs37370        -
AGXT2     Q9BYV1     VAR_029513  p.Val498Leu    Polymorphism  rs16899974     -
AGXT2     Q9BYV1     VAR_048231  p.Gly132Arg    Polymorphism  rs16870794     -
AGXT2     Q9BYV1     VAR_048232  p.Pro492Arg    Polymorphism  rs17245714     -
AGXT2     Q9BYV1     VAR_061006  p.Ser102Ile    Polymorphism  rs37370        -
AGXT2     Q9BYV1     VAR_061007  p.Ser102Thr    Polymorphism  rs37370        -
AHCTF1    Q8WYP5     VAR_027037  p.Asn874Ser    Polymorphism  rs2642990      -
AHCTF1    Q8WYP5     VAR_027038  p.Leu2185Val   Polymorphism  rs12410563     -
AHCY      P23526     VAR_006934  p.Asp86Asn     Polymorphism  -              -
AHCY      P23526     VAR_052286  p.Arg38Trp     Polymorphism  rs13043752     -
AHCY      P23526     VAR_058588  p.Arg49Cys     Disease       rs369428934    Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHCY      P23526     VAR_058589  p.Asp86Gly     Disease       rs773162208    Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHCY      P23526     VAR_058590  p.Ala89Val     Disease       rs755222515    Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHCY      P23526     VAR_058591  p.Tyr143Cys    Disease       rs121918608    Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHDC1     Q5TGY3     VAR_037765  p.Ala935Thr    Polymorphism  rs4908364      -
AHI1      Q8N157     VAR_023391  p.Val443Asp    Disease       rs121434350    Joubert syndrome 3 (JBTS3) [MIM:608629]
AHI1      Q8N157     VAR_037892  p.Ile49Asn     Polymorphism  -              -
AHI1      Q8N157     VAR_037893  p.Arg548His    Polymorphism  rs35433555     -
AHI1      Q8N157     VAR_037894  p.Arg723Gln    Disease       rs121434351    Joubert syndrome 3 (JBTS3) [MIM:608629]
AHI1      Q8N157     VAR_037895  p.Ser761Leu    Polymorphism  rs794727174    -
AHI1      Q8N157     VAR_037896  p.Arg830Trp    Polymorphism  rs13312995     -
AHI1      Q8N157     VAR_037897  p.Thr856Ser    Polymorphism  rs199736888    -
AHI1      Q8N157     VAR_037898  p.Tyr933Cys    Polymorphism  rs41288013     -
AHI1      Q8N157     VAR_037899  p.Gln1018Pro   Polymorphism  rs6940875      -
AHI1      Q8N157     VAR_037900  p.Ser1123Phe   Polymorphism  rs117447608    -
AHI1      Q8N157     VAR_037901  p.Pro1140Ser   Polymorphism  rs201148693    -
AHI1      Q8N157     VAR_068171  p.Glu1086Gly   Polymorphism  rs148000791    -
AHI1      Q8N157     VAR_071194  p.Arg351Leu    Disease       rs397514726    Joubert syndrome 3 (JBTS3) [MIM:608629]
AHI1      Q8N157     VAR_076820  p.Thr671Ile    Disease       rs772989270    Joubert syndrome 3 (JBTS3) [MIM:608629]
AHI1      Q8N157     VAR_076821  p.Asp719Gly    Disease       rs863225134    Joubert syndrome 3 (JBTS3) [MIM:608629]
AHI1      Q8N157     VAR_076822  p.His896Arg    Disease       rs863225135    Joubert syndrome 3 (JBTS3) [MIM:608629]
AHNAK     Q09666     VAR_039058  p.Gly962Val    Polymorphism  rs664761       -
AHNAK     Q09666     VAR_039059  p.Ala2114Thr   Polymorphism  rs1298288      -
AHNAK     Q09666     VAR_039060  p.Pro2439Leu   Polymorphism  rs11824660     -
AHNAK     Q09666     VAR_039061  p.Gln3003Lys   Polymorphism  rs566144       -
AHNAK     Q09666     VAR_039062  p.Val3190Ile   Polymorphism  rs11231129     -
AHNAK     Q09666     VAR_039063  p.Ser3724Pro   Polymorphism  rs11231128     -
AHNAK     Q09666     VAR_039064  p.Gly4561Asp   Polymorphism  rs12795508     -
AHNAK     Q09666     VAR_039065  p.Met4611Val   Polymorphism  rs12801302     -
AHNAK     Q09666     VAR_039066  p.Ile4613Val   Polymorphism  rs12801153     -
AHNAK     Q09666     VAR_039067  p.Asp4631Gly   Polymorphism  rs12801123     -
AHNAK     Q09666     VAR_039068  p.Thr5415Ala   Polymorphism  rs11231126     -
AHNAK     Q09666     VAR_061551  p.Lys2247Thr   Polymorphism  rs61524789     -
AHNAK     Q09666     VAR_061552  p.Asp4304Gly   Polymorphism  rs11828907     -
AHNAK2    Q8IVF2     VAR_039069  p.Val1266Met   Polymorphism  rs748458962    -
AHNAK2    Q8IVF2     VAR_039070  p.Leu1470Val   Polymorphism  -              -
AHNAK2    Q8IVF2     VAR_039071  p.Ser2115Arg   Polymorphism  rs2582514      -
AHNAK2    Q8IVF2     VAR_039072  p.Asp2429Glu   Polymorphism  rs11160826     -
AHNAK2    Q8IVF2     VAR_039073  p.Leu2430Val   Polymorphism  rs2819426      -
AHNAK2    Q8IVF2     VAR_039074  p.Val2616Ala   Polymorphism  rs4264326      -
AHNAK2    Q8IVF2     VAR_039075  p.Leu5028Met   Polymorphism  rs9672139      -
AHNAK2    Q8IVF2     VAR_039076  p.Gly5564Arg   Polymorphism  rs2819420      -
AHNAK2    Q8IVF2     VAR_050635  p.Thr525Ala    Polymorphism  rs2278607      -
AHNAK2    Q8IVF2     VAR_050636  p.Met2107Val   Polymorphism  rs11846918     -
AHNAK2    Q8IVF2     VAR_050637  p.Lys2410Arg   Polymorphism  rs11845746     -
AHNAK2    Q8IVF2     VAR_050638  p.Val3796Leu   Polymorphism  -              -
AHNAK2    Q8IVF2     VAR_050639  p.Met3961Val   Polymorphism  rs10141053     -
AHNAK2    Q8IVF2     VAR_050640  p.Ile4071Met   Polymorphism  rs2582511      -
AHNAK2    Q8IVF2     VAR_050641  p.Phe4138Leu   Polymorphism  rs2582505      -
AHNAK2    Q8IVF2     VAR_050642  p.Lys4232Asn   Polymorphism  rs2819423      -
AHNAK2    Q8IVF2     VAR_050643  p.Val4278Ala   Polymorphism  rs2819422      -
AHNAK2    Q8IVF2     VAR_050644  p.Met4536Leu   Polymorphism  rs9672139      -
AHNAK2    Q8IVF2     VAR_050645  p.Thr4664Ala   Polymorphism  rs4465542      -
AHNAK2    Q8IVF2     VAR_050646  p.Gly5072Arg   Polymorphism  rs2819420      -
AHNAK2    Q8IVF2     VAR_050647  p.Tyr5184Asp   Polymorphism  rs2819419      -
AHNAK2    Q8IVF2     VAR_050648  p.Pro5397Ala   Polymorphism  rs3742935      -
AHNAK2    Q8IVF2     VAR_050649  p.Thr5732Met   Polymorphism  rs748358       -
AHNAK2    Q8IVF2     VAR_059560  p.Glu1856Asp   Polymorphism  rs2819435      -
AHNAK2    Q8IVF2     VAR_059561  p.Leu2146Val   Polymorphism  rs12890949     -
AHNAK2    Q8IVF2     VAR_059562  p.Glu2503Ala   Polymorphism  rs2819429      -
AHNAK2    Q8IVF2     VAR_059563  p.Arg2862Ser   Polymorphism  rs2582514      -
AHNAK2    Q8IVF2     VAR_059564  p.Asp3176Glu   Polymorphism  rs11160826     -
AHNAK2    Q8IVF2     VAR_059565  p.Leu3177Val   Polymorphism  rs2819426      -
AHNAK2    Q8IVF2     VAR_059566  p.Pro3336Leu   Polymorphism  rs10438247     -
AHNAK2    Q8IVF2     VAR_059567  p.Val3363Ala   Polymorphism  rs4264326      -
AHNAK2    Q8IVF2     VAR_059568  p.Asp3793Asn   Polymorphism  rs11160825     -
AHNAK2    Q8IVF2     VAR_059569  p.Met3869Val   Polymorphism  rs10438246     -
AHNAK2    Q8IVF2     VAR_059570  p.Lys3902Asn   Polymorphism  rs2819423      -
AHNAK2    Q8IVF2     VAR_059571  p.Ala4085Val   Polymorphism  rs2013462      -
AHNAK2    Q8IVF2     VAR_059572  p.Asp4198Asn   Polymorphism  rs534942818    -
AHNAK2    Q8IVF2     VAR_059573  p.Leu4326Pro   Polymorphism  rs2819421      -
AHNAK2    Q8IVF2     VAR_059574  p.Pro4478Leu   Polymorphism  rs2582513      -
AHNAK2    Q8IVF2     VAR_061548  p.Met1298Ile   Polymorphism  rs2819440      -
AHNAK2    Q8IVF2     VAR_061549  p.Gly3654Glu   Polymorphism  rs28380382     -
AHNAK2    Q8IVF2     VAR_061550  p.Gly5139Glu   Polymorphism  rs61421370     -
AHR       P35869     VAR_009281  p.Arg554Lys    Polymorphism  rs2066853      -
AHR       P35869     VAR_009282  p.Val570Ile    Polymorphism  rs4986826      -
AHR       P35869     VAR_015516  p.Pro517Ser    Polymorphism  rs72552768     -
AHR       P35869     VAR_015517  p.Met786Val    Polymorphism  rs72552769     -
AHRR      A9YTQ3     VAR_043308  p.Leu114Pro    Polymorphism  rs35008248     -
AHRR      A9YTQ3     VAR_043309  p.Pro189Ala    Polymorphism  rs2292596      -
AHRR      A9YTQ3     VAR_043310  p.Gly373Val    Polymorphism  rs2303738      -
AHRR      A9YTQ3     VAR_043311  p.Asp627His    Polymorphism  rs34453673     -
AHSA2P    Q719I0     VAR_038256  p.Met248Thr    Unclassified  -              A breast cancer sample
AHSG      P02765     VAR_002388  p.Met248Thr    Polymorphism  rs4917         -
AHSG      P02765     VAR_002389  p.Ser256Thr    Polymorphism  rs4918         -
AHSG      P02765     VAR_012474  p.Asp276Asn    Polymorphism  rs70961709     -
AHSG      P02765     VAR_012475  p.Arg317Cys    Polymorphism  rs35457250     -
AHSG      P02765     VAR_055802  p.Val142Leu    Polymorphism  rs7633550      -
AHSG      P02765     VAR_080645  p.Arg317His    Unclassified  rs201849460    Alopecia-mental retardation syndrome 1 (APMR1) [MIM:203650]
AHSP      Q9NZD4     VAR_050650  p.Pro100Thr    Polymorphism  rs36018996     -
AICDA     Q9GZX7     VAR_013774  p.Arg24Trp     Disease       rs104894324    Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_013775  p.Trp80Arg     Disease       rs104894320    Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_013776  p.Leu106Pro    Disease       rs104894321    Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_013777  p.Met139Val    Disease       rs104894322    Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_013778  p.Phe151Ser    Disease       rs104894327    Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_014091  p.Arg25Cys     Polymorphism  rs1404944797   -
AICDA     Q9GZX7     VAR_077563  p.Phe15Leu     Disease       -              Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_077564  p.Tyr31His     Disease       -              Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_077565  p.His56Tyr     Unclassified  -              Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_077566  p.Cys87Arg     Unclassified  rs762590894    Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_077567  p.His130Pro    Disease       -              Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_077568  p.Arg174Ser    Unclassified  -              Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AIF1      P55008     VAR_048665  p.Gly14Arg     Polymorphism  rs2736182      -
AIFM1     O95831     VAR_067334  p.Gly308Glu    Disease       -              Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816]
AIFM1     O95831     VAR_069468  p.Glu493Val    Disease       rs281864468    Cowchock syndrome (COWCK) [MIM:310490]
AIFM1     O95831     VAR_072791  p.Val243Leu    Disease       -              -
AIFM1     O95831     VAR_076211  p.Thr260Ala    Disease       rs863225432    Deafness, X-linked, 5 (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076212  p.Leu344Phe    Unclassified  rs184474885    Deafness, X-linked, 5 (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076213  p.Gly360Arg    Unclassified  rs724160026    Deafness, X-linked, 5 (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076214  p.Arg422Gln    Disease       rs724160021    Deafness, X-linked, 5 (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076215  p.Arg422Trp    Disease       rs724160020    Deafness, X-linked, 5 (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076216  p.Arg430Cys    Unclassified  rs1223488720   Deafness, X-linked, 5 (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076217  p.Arg451Gln    Disease       rs863225431    Deafness, X-linked, 5 (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076218  p.Ala472Val    Unclassified  -              Deafness, X-linked, 5 (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076219  p.Pro475Leu    Unclassified  rs724160022    Deafness, X-linked, 5 (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076220  p.Val498Met    Unclassified  rs724160023    Deafness, X-linked, 5 (DFNX5) [MIM:300614]
AIFM1     O95831     VAR_076221  p.Ile591Met    Unclassified  -              Deafness, X-linked, 5 (DFNX5) [MIM:300614]
AIFM2     Q9BRQ8     VAR_050651  p.Met135Thr    Polymorphism  rs10999147     -
AIFM2     Q9BRQ8     VAR_050652  p.Asp288Asn    Polymorphism  rs2271694      -
AIFM3     Q96NN9     VAR_061553  p.Ser508Thr    Polymorphism  rs61356271     -
AIG1      Q9NVV5     VAR_057502  p.Gln151Glu    Polymorphism  rs1053193      -
AIM2      O14862     VAR_022022  p.Glu32Lys     Polymorphism  rs2276405      -
AIM2      O14862     VAR_043379  p.Cys304Tyr    Polymorphism  rs778047649    -
AIMP1     Q12904     VAR_025212  p.Pro79Ala     Polymorphism  rs1134648      -
AIMP1     Q12904     VAR_029156  p.Thr104Ala    Polymorphism  rs113844295    -
AIMP1     Q12904     VAR_050124  p.Thr117Ala    Polymorphism  rs2230255      -
AIMP2     Q13155     VAR_025521  p.Ala129Gly    Polymorphism  rs17855441     -
AIMP2     Q13155     VAR_050125  p.Leu166Ile    Polymorphism  rs34525431     -
AIMP2     Q13155     VAR_058392  p.Ile92Val     Unclassified  -              A lung cancer cell line
AIMP2     Q13155     VAR_058394  p.Gly209Ser    Unclassified  rs982080297    A lung cancer cell line
AIP       O00170     VAR_043908  p.Arg16His     Polymorphism  rs145047094    -
AIP       O00170     VAR_043909  p.Gln228Lys    Polymorphism  rs641081       -
AIP       O00170     VAR_043910  p.Lys241Glu    Unclassified  rs267606573    Pituitary adenoma 1, multiple types (PITA1) [MIM:102200]
AIP       O00170     VAR_043912  p.Arg271Trp    Unclassified  rs267606579    Pituitary adenoma 1, multiple types (PITA1) [MIM:102200]
AIP       O00170     VAR_043913  p.Arg304Gln    Disease       rs104894190    Pituitary adenoma 1, multiple types (PITA1) [MIM:102200]
AIP       O00170     VAR_061545  p.Gln307Arg    Polymorphism  rs4930199      -
AIPL1     Q9NZN9     VAR_010139  p.Cys239Arg    Disease       rs62637012     Leber congenital amaurosis 4 (LCA4) [MIM:604393]
AIPL1     Q9NZN9     VAR_010140  p.Asp90His     Polymorphism  rs12449580     -
AIPL1     Q9NZN9     VAR_050626  p.Val33Ala     Polymorphism  rs16955859     -
AIPL1     Q9NZN9     VAR_050627  p.Tyr134Phe    Polymorphism  rs16955851     -
AIPL1     Q9NZN9     VAR_067165  p.Arg270His    Disease       -              Leber congenital amaurosis 4 (LCA4) [MIM:604393]
AIPL1     Q9NZN9     VAR_067166  p.Arg302Leu    Polymorphism  rs62637015     -
AIRE      O43918     VAR_005004  p.Leu28Pro     Disease       rs179363878    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_005005  p.Lys83Glu     Disease       rs121434255    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_005006  p.Ser278Arg    Polymorphism  rs1800520      -
AIRE      O43918     VAR_013713  p.Arg15Leu     Disease       rs179363876    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013714  p.Thr16Met     Disease       rs179363877    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013715  p.Leu29Pro     Disease       rs179363879    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013716  p.Trp78Arg     Disease       rs179363880    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013717  p.Val80Leu     Disease       rs179363881    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013718  p.Tyr85Cys     Disease       rs179363882    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013719  p.Tyr90Cys     Disease       rs179363883    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013720  p.Leu93Arg     Disease       rs179363884    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013721  p.Val301Met    Disease       rs150634562    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013722  p.Gly305Ser    Unclassified  -              -
AIRE      O43918     VAR_013723  p.Cys311Tyr    Disease       rs386833674    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_013724  p.Pro326Gln    Disease       rs179363885    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_014422  p.Gly228Trp    Disease       rs121434257    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_026480  p.Arg15Cys     Disease       rs179363875    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_026481  p.Ala21Val     Disease       rs179363886    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_026483  p.Phe77Ser     Disease       rs179363887    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_026484  p.Pro252Leu    Disease       rs34397615     Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_026485  p.Pro326Leu    Disease       rs179363885    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_026486  p.Pro539Leu    Disease       rs179363889    Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_076940  p.Glu298Lys    Unclassified  rs763636007    -
AIRE      O43918     VAR_076941  p.Cys299Trp    Unclassified  rs751066946    -
AIRE      O43918     VAR_076942  p.Cys302Tyr    Unclassified  -              -
AIRE      O43918     VAR_076943  p.Arg303Gln    Unclassified  rs139808903    -
AIRE      O43918     VAR_076944  p.Arg303Trp    Unclassified  rs778929451    -
AIRE      O43918     VAR_076945  p.Gly306Arg    Unclassified  rs754932526    -
AIRE      O43918     VAR_076946  p.Ile309Met    Unclassified  rs74162062     -
AIRE      O43918     VAR_076947  p.Arg316Gln    Unclassified  rs202027254    -
AIRE      O43918     VAR_076948  p.Arg316Trp    Unclassified  rs139874934    -
AIRE      O43918     VAR_076949  p.His319Pro    Unclassified  rs776951380    -
AIRE      O43918     VAR_076950  p.Arg328Gln    Polymorphism  rs775921321    -
AIRE      O43918     VAR_076951  p.Arg328Trp    Unclassified  rs74162063     -
AIRE      O43918     VAR_076952  p.Ser332Arg    Unclassified  rs766901260    -
AIRE      O43918     VAR_076953  p.Val484Ala    Unclassified  rs769470638    -
AJAP1     Q9UKB5     VAR_031821  p.Gly263Arg    Polymorphism  rs242056       -
AK1       P00568     VAR_004021  p.Arg128Trp    Disease       rs104894101    Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK1       P00568     VAR_034046  p.Glu123Gln    Polymorphism  rs8192462      -
AK1       P00568     VAR_055337  p.Gly40Arg     Disease       rs137853204    Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK1       P00568     VAR_055338  p.Gly64Arg     Disease       rs137853205    Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK1       P00568     VAR_055340  p.Tyr164Cys    Disease       rs137853203    Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK2       P54819     VAR_050032  p.Ala209Thr    Polymorphism  rs12116440     -
AK2       P54819     VAR_054630  p.Arg103Trp    Disease       rs267606648    Reticular dysgenesis (RDYS) [MIM:267500]
AK2       P54819     VAR_054631  p.Asp165Gly    Disease       rs267606643    Reticular dysgenesis (RDYS) [MIM:267500]
AK5       Q9Y6K8     VAR_059435  p.Arg465Gln    Polymorphism  rs2803140      -
AK7       Q96M32     VAR_017059  p.Arg102Gln    Polymorphism  rs2275554      -
AK7       Q96M32     VAR_057950  p.Asn389Lys    Polymorphism  rs2369679      -
AK7       Q96M32     VAR_080917  p.Leu673Pro    Disease       rs116298211    Spermatogenic failure 27 (SPGF27) [MIM:617965]
AK8       Q96MA6     VAR_030873  p.Ile5Thr      Polymorphism  rs2231400      -
AK8       Q96MA6     VAR_030874  p.Asp130Gly    Polymorphism  rs17407084     -
AKAP1     Q92667     VAR_024512  p.Val60Met     Polymorphism  rs2230770      -
AKAP1     Q92667     VAR_049676  p.Ala18Val     Polymorphism  rs17761023     -
AKAP1     Q92667     VAR_049677  p.Cys102Tyr    Polymorphism  rs2230771      -
AKAP1     Q92667     VAR_049678  p.Arg124Cys    Polymorphism  rs17833723     -
AKAP10    O43572     VAR_024607  p.Arg249His    Polymorphism  rs2108978      -
AKAP10    O43572     VAR_024608  p.Ile646Val    Polymorphism  rs203462       -
AKAP11    Q9UKA4     VAR_020131  p.Ser721Cys    Polymorphism  rs2236364      -
AKAP11    Q9UKA4     VAR_048207  p.His1070Arg   Polymorphism  rs17063163     -
AKAP11    Q9UKA4     VAR_048208  p.Leu1410Phe   Polymorphism  rs17063167     -
AKAP12    Q02952     VAR_035115  p.Lys117Glu    Polymorphism  rs10872670     -
AKAP12    Q02952     VAR_035116  p.Lys216Gln    Polymorphism  rs3734799      -
AKAP12    Q02952     VAR_035117  p.Glu920Gly    Polymorphism  rs13212161     -
AKAP12    Q02952     VAR_035118  p.Val1096Ile   Polymorphism  rs3734797      -
AKAP12    Q02952     VAR_035119  p.Arg1296Leu   Polymorphism  rs9478198      -
AKAP12    Q02952     VAR_035120  p.Glu1355Lys   Polymorphism  rs12201388     -
AKAP12    Q02952     VAR_035121  p.Glu1600Asp   Polymorphism  rs3823310      -
AKAP12    Q02952     VAR_035122  p.Glu1689Asp   Polymorphism  rs3734795      -
AKAP12    Q02952     VAR_035780  p.Glu240Lys    Unclassified  rs552053449    A colorectal cancer sample
AKAP12    Q02952     VAR_056731  p.Ala987Ser    Polymorphism  rs1042069      -
AKAP13    Q12802     VAR_030925  p.Met452Thr    Polymorphism  rs2061821      -
AKAP13    Q12802     VAR_030926  p.Trp494Arg    Polymorphism  rs2061822      -
AKAP13    Q12802     VAR_030927  p.Arg574Cys    Polymorphism  rs2061824      -
AKAP13    Q12802     VAR_030928  p.Gly624Val    Polymorphism  rs745191       -
AKAP13    Q12802     VAR_030929  p.Glu689Lys    Polymorphism  rs7177107      -
AKAP13    Q12802     VAR_030930  p.Val845Ala    Polymorphism  rs4075256      -
AKAP13    Q12802     VAR_030931  p.Val897Met    Polymorphism  rs4075254      -
AKAP13    Q12802     VAR_030932  p.Pro1062Ala   Polymorphism  rs4843074      -
AKAP13    Q12802     VAR_030933  p.Asp1086Asn   Polymorphism  rs4843075      -
AKAP13    Q12802     VAR_030934  p.Met1216Thr   Polymorphism  rs7162168      -
AKAP13    Q12802     VAR_030935  p.Gly2457Ser   Polymorphism  rs2241268      -
AKAP13    Q12802     VAR_030936  p.Ala2801Thr   Polymorphism  rs2614668      -
AKAP13    Q12802     VAR_051986  p.Lys526Gln    Polymorphism  rs34434221     -
AKAP13    Q12802     VAR_051987  p.Ser1525Gly   Polymorphism  rs35079107     -
AKAP17A   Q02040     VAR_055353  p.Pro194Ser    Polymorphism  rs17852504     -
AKAP2     Q9Y2D5     VAR_024248  p.Leu561Ser    Polymorphism  rs914358       -
AKAP3     O75969     VAR_036428  p.Arg831Cys    Unclassified  rs143517596    A colorectal cancer sample
AKAP3     O75969     VAR_055488  p.Gly118Glu    Polymorphism  rs2072355      -
AKAP3     O75969     VAR_055489  p.Ile500Thr    Polymorphism  rs12366671     -
AKAP3     O75969     VAR_055490  p.Ile661Thr    Polymorphism  rs1990313      -
AKAP3     O75969     VAR_055491  p.Ser700Phe    Polymorphism  rs2041291      -
AKAP3     O75969     VAR_055492  p.Ser725Leu    Polymorphism  rs2072357      -
AKAP3     O75969     VAR_059112  p.Ser700Pro    Polymorphism  rs2041290      -
AKAP3     O75969     VAR_060730  p.Thr464Ser    Polymorphism  rs11063266     -
AKAP3     O75969     VAR_061000  p.Glu525Lys    Polymorphism  rs1990312      -
AKAP4     Q5JQC9     VAR_027266  p.Ala673Gly    Polymorphism  rs12012704     -
AKAP4     Q5JQC9     VAR_048206  p.His233Arg    Polymorphism  rs17174078     -
AKAP5     P24588     VAR_056732  p.Pro100Leu    Polymorphism  rs2230491      -
AKAP5     P24588     VAR_056733  p.Glu314Lys    Polymorphism  rs34433837     -
AKAP5     P24588     VAR_060735  p.Thr203Ile    Polymorphism  rs1256149      -
AKAP6     Q13023     VAR_028171  p.Ala337Val    Polymorphism  rs3742926      -
AKAP6     Q13023     VAR_028172  p.Asn408Ser    Polymorphism  rs17099240     -
AKAP6     Q13023     VAR_028173  p.Ala1492Val   Polymorphism  rs11845640     -
AKAP6     Q13023     VAR_028174  p.Asn2035Asp   Polymorphism  rs1051695      -
AKAP6     Q13023     VAR_028175  p.Phe2171Tyr   Polymorphism  rs4647899      -
AKAP6     Q13023     VAR_028176  p.Asp2209His   Polymorphism  rs4402458      -
AKAP6     Q13023     VAR_035781  p.Lys910Met    Unclassified  -              A breast cancer sample
AKAP6     Q13023     VAR_035782  p.Met1192Ile   Unclassified  -              A breast cancer sample
AKAP6     Q13023     VAR_035783  p.Glu1702Gln   Unclassified  -              A breast cancer sample
AKAP6     Q13023     VAR_035784  p.Pro1839Thr   Unclassified  rs745389246    A colorectal cancer sample
AKAP6     Q13023     VAR_050653  p.Asn558Asp    Polymorphism  rs35210906     -
AKAP6     Q13023     VAR_050654  p.Glu892Lys    Polymorphism  rs34572259     -
AKAP6     Q13023     VAR_050655  p.Thr1516Ala   Polymorphism  rs17099587     -
AKAP6     Q13023     VAR_050656  p.Val1522Ile   Polymorphism  rs34711402     -
AKAP6     Q13023     VAR_050657  p.Glu2267Asp   Polymorphism  rs35977369     -
AKAP7     Q9P0M2     VAR_024246  p.Glu26Lys     Polymorphism  rs7771473      -
AKAP7     Q9P0M2     VAR_024247  p.Ser215Asn    Polymorphism  rs1190788      -
AKAP8     O43823     VAR_036534  p.Gln664His    Unclassified  -              A breast cancer sample
AKAP8L    Q9ULX6     VAR_068822  p.Gln458His    Polymorphism  rs2058322      -
AKAP9     Q99996     VAR_024249  p.Met463Ile    Polymorphism  rs6964587      -
AKAP9     Q99996     VAR_030162  p.Asn2792Ser   Polymorphism  rs6960867      -
AKAP9     Q99996     VAR_030163  p.Pro2979Ser   Polymorphism  rs1063242      -
AKAP9     Q99996     VAR_035785  p.Met2409Ile   Unclassified  -              A colorectal cancer sample
AKAP9     Q99996     VAR_035786  p.Glu3297Gln   Unclassified  rs756245027    A breast cancer sample
AKAP9     Q99996     VAR_043489  p.Ser1570Leu   Disease       rs121908566    Long QT syndrome 11 (LQT11) [MIM:611820]
AKAP9     Q99996     VAR_043490  p.Lys2484Arg   Polymorphism  rs35759833     -
AKAP9     Q99996     VAR_043491  p.Gln3444Arg   Polymorphism  rs34956633     -
AKAP9     Q99996     VAR_043492  p.Met3614Val   Polymorphism  rs34327395     -
AKIP1     Q9NQ31     VAR_021565  p.Arg23Lys     Polymorphism  rs1133833      -
AKIP1     Q9NQ31     VAR_050688  p.Ile132Thr    Polymorphism  rs35131475     -
AKNA      Q7Z591     VAR_032586  p.Pro624Leu    Polymorphism  rs3748176      -
AKNA      Q7Z591     VAR_032587  p.Gln1097Arg   Polymorphism  rs1265891      -
AKNA      Q7Z591     VAR_032588  p.Arg1119Gln   Polymorphism  rs3748178      -
AKNA      Q7Z591     VAR_032589  p.Ser1303Pro   Polymorphism  rs2250242      -
AKNA      Q7Z591     VAR_032590  p.Tyr1327Cys   Polymorphism  rs2787344      -
AKNAD1    Q5T1N1     VAR_044198  p.Ser61Asn     Polymorphism  rs1277207      -
AKNAD1    Q5T1N1     VAR_044199  p.Ala104Val    Polymorphism  rs17621411     -
AKNAD1    Q5T1N1     VAR_044200  p.Glu167Gly    Polymorphism  rs17852793     -
AKNAD1    Q5T1N1     VAR_044201  p.His255Tyr    Polymorphism  rs9440631      -
AKNAD1    Q5T1N1     VAR_044202  p.Leu352Val    Polymorphism  rs11580913     -
AKNAD1    Q5T1N1     VAR_044203  p.Asn616Lys    Polymorphism  rs7551421      -
AKNAD1    Q5T1N1     VAR_044204  p.Cys654Tyr    Polymorphism  rs7522157      -
AKNAD1    Q5T1N1     VAR_061565  p.Gly582Val    Polymorphism  rs12060255     -
AKR1A1    P14550     VAR_048212  p.Asn52Ser     Polymorphism  rs2229540      -
AKR1A1    P14550     VAR_058909  p.Glu55Asp     Polymorphism  rs6690497      -
AKR1B1    P15121     VAR_014743  p.Ile15Phe     Polymorphism  rs5054         -
AKR1B1    P15121     VAR_014744  p.His42Leu     Polymorphism  rs5056         -
AKR1B1    P15121     VAR_014745  p.Leu73Val     Polymorphism  rs5057         -
AKR1B1    P15121     VAR_014746  p.Gly204Ser    Polymorphism  rs5061         -
AKR1B1    P15121     VAR_014747  p.Thr288Ile    Polymorphism  rs5062         -
AKR1B1    P15121     VAR_048213  p.Lys90Glu     Polymorphism  rs2229542      -
AKR1B10   O60218     VAR_013287  p.Asn313Asp    Polymorphism  rs4728329      -
AKR1B10   O60218     VAR_020077  p.Pro87Ser     Polymorphism  rs2303312      -
AKR1B10   O60218     VAR_020078  p.Met286Thr    Polymorphism  rs3735042      -
AKR1C1    Q04828     VAR_048214  p.Arg170His    Polymorphism  rs139588200    -
AKR1C1    Q04828     VAR_048215  p.Gln172Leu    Polymorphism  rs11474        -
AKR1C2    P52895     VAR_014748  p.Leu172Gln    Polymorphism  rs11474        -
AKR1C2    P52895     VAR_048216  p.Phe46Tyr     Polymorphism  rs2854482      -
AKR1C2    P52895     VAR_066632  p.Ile79Val     Disease       rs387906750    46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C2    P52895     VAR_066633  p.His90Gln     Disease       rs797044460    46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C2    P52895     VAR_066634  p.His222Gln    Disease       -              46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C2    P52895     VAR_066635  p.Asn300Thr    Disease       rs387906751    46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C3    P42330     VAR_013288  p.His5Gln      Polymorphism  rs12529        -
AKR1C3    P42330     VAR_013289  p.Met175Ile    Polymorphism  rs1131132      -
AKR1C3    P42330     VAR_032767  p.Arg66Gln     Polymorphism  rs35961894     -
AKR1C3    P42330     VAR_032768  p.Arg170Cys    Polymorphism  rs35575889     -
AKR1C3    P42330     VAR_032769  p.Pro180Ser    Polymorphism  rs34186955     -
AKR1C3    P42330     VAR_061001  p.Glu77Gly     Polymorphism  rs11551177     -
AKR1C4    P17516     VAR_013290  p.Ser145Cys    Polymorphism  rs3829125      -
AKR1C4    P17516     VAR_013291  p.Leu311Val    Polymorphism  rs17134592     -
AKR1C4    P17516     VAR_028240  p.Gly135Glu    Polymorphism  rs11253043     -
AKR1C4    P17516     VAR_028241  p.Cys170Tyr    Polymorphism  rs17851824     -
AKR1C4    P17516     VAR_028242  p.Gln250Arg    Polymorphism  rs4880718      -
AKR1C8P   Q5T2L2     VAR_032355  p.Arg50His     Polymorphism  rs7097295      -
AKR1D1    P51857     VAR_033007  p.Leu106Phe    Disease       rs121918343    Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1D1    P51857     VAR_033008  p.Pro198Leu    Disease       rs121918342    Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1D1    P51857     VAR_044430  p.Pro133Arg    Disease       rs267606649    Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1D1    P51857     VAR_044431  p.Arg261Cys    Disease       rs267606650    Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1D1    P51857     VAR_081756  p.Gly223Glu    Disease       rs1228918719   Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1E2    Q96JD6     VAR_032356  p.Cys52Gly     Polymorphism  rs35429729     -
AKR1E2    Q96JD6     VAR_032357  p.Lys86Arg     Polymorphism  rs17133693     -
AKR7A2    O43488     VAR_017413  p.Ala142Thr    Polymorphism  rs1043657      -
AKR7A2    O43488     VAR_017414  p.Gln157His    Polymorphism  rs859208       -
AKR7A2    O43488     VAR_017415  p.Cys214Tyr    Polymorphism  rs2235794      -
AKR7A2    O43488     VAR_048209  p.Val135Met    Polymorphism  rs6670759      -
AKR7A2    O43488     VAR_048210  p.Gly198Ser    Polymorphism  rs2231200      -
AKR7A2    O43488     VAR_048211  p.Ser255Asn    Polymorphism  rs2231203      -
AKR7A2    O43488     VAR_060222  p.Glu180Lys    Polymorphism  rs859210       -
AKR7A3    O95154     VAR_017416  p.Val138Met    Polymorphism  rs2231198      -
AKR7A3    O95154     VAR_017417  p.Asn215Asp    Polymorphism  rs1738023      -
AKR7A3    O95154     VAR_017418  p.Thr323Ala    Polymorphism  rs1738025      -
AKR7L     Q8NHP1     VAR_046190  p.Ala255Thr    Polymorphism  rs2235795      -
AKR7L     Q8NHP1     VAR_046191  p.Phe322Val    Polymorphism  rs2982534      -
AKT1      P31749     VAR_051617  p.Val167Ala    Polymorphism  rs11555433     -
AKT1      P31749     VAR_055422  p.Glu17Lys     Disease       rs121434592    Breast cancer (BC) [MIM:114480]
AKT1      P31749     VAR_055422  p.Glu17Lys     Disease       rs121434592    Proteus syndrome (PROTEUSS) [MIM:176920]
AKT1      P31749     VAR_069791  p.Arg25Cys     Disease       rs397514644    Cowden syndrome 6 (CWS6) [MIM:615109]
AKT1      P31749     VAR_069792  p.Thr435Pro    Disease       rs397514645    Cowden syndrome 6 (CWS6) [MIM:615109]
AKT1S1    Q96B36     VAR_028239  p.Ala47Pro     Polymorphism  rs17850191     -
AKT2      P31751     VAR_040356  p.Ile188Val    Polymorphism  rs55859611     -
AKT2      P31751     VAR_040357  p.Arg208Lys    Polymorphism  rs35817154     -
AKT2      P31751     VAR_067309  p.Glu17Lys     Disease       rs387906659    Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) [MIM:240900]
AKT2      P31751     VAR_067310  p.Arg274His    Disease       rs121434593    Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
AKT3      Q9Y243     VAR_040358  p.Gly171Arg    Unclassified  rs1402272180   A glioblastoma multiforme sample
AKT3      Q9Y243     VAR_065830  p.Glu17Lys     Disease       rs397514606    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937]
AKT3      Q9Y243     VAR_065830  p.Glu17Lys     Unclassified  rs397514606    Melanoma
AKT3      Q9Y243     VAR_069260  p.Asn229Ser    Disease       rs397514605    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937]
AKT3      Q9Y243     VAR_069261  p.Arg465Trp    Disease       rs587776935    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937]
ALAD      P13716     VAR_003633  p.Lys59Asn     Polymorphism  rs1800435      -
ALAD      P13716     VAR_003634  p.Gly133Arg    Disease       rs121912980    Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD      P13716     VAR_003635  p.Arg240Trp    Disease       rs121912982    Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD      P13716     VAR_003636  p.Ala274Thr    Disease       rs121912983    Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD      P13716     VAR_003637  p.Val275Met    Disease       rs121912981    Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD      P13716     VAR_020973  p.Phe12Leu     Polymorphism  rs121912984    -
ALAD      P13716     VAR_020974  p.Val153Met    Disease       -              Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAS2     P22557     VAR_000562  p.Thr388Ser    Disease       rs137852300    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_000563  p.Arg411Cys    Disease       rs137852305    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_000564  p.Ile476Asn    Disease       rs137852299    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_012334  p.Tyr199His    Disease       rs137852310    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_012335  p.Arg204Gln    Disease       rs1338391423   Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_012336  p.Arg448Gln    Disease       -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_012337  p.Arg452Cys    Disease       rs137852311    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_018604  p.Asp159Tyr    Disease       rs137852308    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_018605  p.Arg560His    Disease       rs892041887    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066232  p.Lys156Glu    Disease       -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066233  p.Arg170His    Disease       -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066234  p.Arg218His    Disease       rs185504937    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066235  p.Glu242Lys    Disease       -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066236  p.Asp263Asn    Disease       -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066237  p.Pro339Leu    Disease       -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066238  p.Arg375Cys    Disease       -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066239  p.Arg411His    Disease       -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066240  p.Arg452Gly    Disease       -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066241  p.Arg452His    Disease       rs863223904    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066242  p.Pro520Leu    Disease       rs201062903    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066243  p.Arg572His    Disease       -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_066244  p.Tyr586Phe    Polymorphism  rs139596860    -
ALAS2     P22557     VAR_072328  p.Phe165Leu    Disease       rs137852301    Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_072329  p.Arg170Cys    Disease       -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_072330  p.Val301Ala    Disease       -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALAS2     P22557     VAR_072331  p.Arg517Gly    Disease       -              Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]
ALB       P02768     VAR_000499  p.Arg23Cys     Polymorphism  rs80008208     -
ALB       P02768     VAR_000500  p.Arg23His     Polymorphism  rs72552709     -
ALB       P02768     VAR_000501  p.Arg24Leu     Polymorphism  rs74821926     -
ALB       P02768     VAR_000502  p.Arg24Pro     Polymorphism  rs74821926     -
ALB       P02768     VAR_000503  p.Arg24Gln     Polymorphism  rs74821926     -
ALB       P02768     VAR_000504  p.Asp25Val     Polymorphism  rs75353611     -
ALB       P02768     VAR_000505  p.His27Gln     Polymorphism  rs76285851     -
ALB       P02768     VAR_000506  p.His27Tyr     Polymorphism  rs141733599    -
ALB       P02768     VAR_000507  p.Glu84Lys     Polymorphism  rs77050410     -
ALB       P02768     VAR_000508  p.Asp87Asn     Polymorphism  rs78574148     -
ALB       P02768     VAR_000509  p.Glu106Lys    Polymorphism  rs80296402     -
ALB       P02768     VAR_000510  p.Arg138Gly    Polymorphism  rs77238412     -
ALB       P02768     VAR_000511  p.Glu143Lys    Polymorphism  rs75522063     -
ALB       P02768     VAR_000512  p.His152Arg    Polymorphism  rs80095457     -
ALB       P02768     VAR_000513  p.Cys201Phe    Polymorphism  rs77656691     -
ALB       P02768     VAR_000514  p.Arg242His    Disease       rs75002628     Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999]
ALB       P02768     VAR_000515  p.Lys249Gln    Polymorphism  rs79804069     -
ALB       P02768     VAR_000516  p.Lys264Glu    Polymorphism  rs79377490     -
ALB       P02768     VAR_000517  p.Gln292Arg    Polymorphism  rs80002911     -
ALB       P02768     VAR_000518  p.Asp293Gly    Polymorphism  rs79744198     -
ALB       P02768     VAR_000519  p.Lys300Asn    Polymorphism  rs74718349     -
ALB       P02768     VAR_000520  p.Lys337Asn    Polymorphism  rs72552710     -
ALB       P02768     VAR_000521  p.Asn342Lys    Polymorphism  rs77544362     -
ALB       P02768     VAR_000522  p.Ala344Thr    Polymorphism  rs78953271     -
ALB       P02768     VAR_000523  p.Glu345Lys    Polymorphism  rs72552711     -
ALB       P02768     VAR_000524  p.Glu357Lys    Polymorphism  rs77354753     -
ALB       P02768     VAR_000525  p.Glu378Lys    Polymorphism  rs76593094     -
ALB       P02768     VAR_000526  p.Glu382Lys    Polymorphism  rs75791663     -
ALB       P02768     VAR_000527  p.Asp389His    Polymorphism  rs77187142     -
ALB       P02768     VAR_000528  p.Asp389Val    Polymorphism  rs78538497     -
ALB       P02768     VAR_000529  p.Lys396Glu    Polymorphism  rs78166690     -
ALB       P02768     VAR_000530  p.Asp399Asn    Polymorphism  rs77514449     -
ALB       P02768     VAR_000531  p.Glu400Lys    Polymorphism  rs79047363     -
ALB       P02768     VAR_000532  p.Glu400Gln    Polymorphism  rs79047363     -
ALB       P02768     VAR_000533  p.Glu406Lys    Polymorphism  rs76483862     -
ALB       P02768     VAR_000534  p.Glu503Lys    Polymorphism  rs80259813     -
ALB       P02768     VAR_000535  p.Asp518Asn    Polymorphism  rs75920790     -
ALB       P02768     VAR_000536  p.Glu525Lys    Polymorphism  rs75523493     -
ALB       P02768     VAR_000537  p.Glu529Lys    Polymorphism  rs74826639     -
ALB       P02768     VAR_000538  p.Lys560Glu    Polymorphism  rs77645174     -
ALB       P02768     VAR_000539  p.Lys565Glu    Polymorphism  rs80345158     -
ALB       P02768     VAR_000540  p.Asp574Gly    Polymorphism  rs79738788     -
ALB       P02768     VAR_000541  p.Asp574Ala    Polymorphism  rs79738788     -
ALB       P02768     VAR_000542  p.Asp587Asn    Polymorphism  rs76587671     -
ALB       P02768     VAR_000543  p.Glu589Lys    Polymorphism  rs75709682     -
ALB       P02768     VAR_000544  p.Glu594Lys    Polymorphism  rs79228041     -
ALB       P02768     VAR_000545  p.Lys597Glu    Polymorphism  rs80106970     -
ALB       P02768     VAR_000546  p.Lys598Asn    Polymorphism  rs75738598     -
ALB       P02768     VAR_010657  p.Phe73Tyr     Polymorphism  -              -
ALB       P02768     VAR_013011  p.Leu90Pro     Disease       rs77892378     Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999]
ALB       P02768     VAR_013012  p.Val146Glu    Polymorphism  rs77752336     -
ALB       P02768     VAR_013013  p.Arg242Pro    Disease       rs75002628     Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999]
ALB       P02768     VAR_013014  p.Asp338Gly    Polymorphism  rs76242087     -
ALB       P02768     VAR_013015  p.Asp338Val    Polymorphism  rs76242087     -
ALB       P02768     VAR_013016  p.Lys383Asn    Polymorphism  rs75069738     -
ALB       P02768     VAR_013017  p.Arg434Cys    Polymorphism  rs78575701     -
ALB       P02768     VAR_013018  p.Val557Met    Polymorphism  rs78284052     -
ALB       P02768     VAR_013019  p.Lys584Glu    Polymorphism  rs76671808     -
ALB       P02768     VAR_014290  p.Glu121Gly    Polymorphism  -              -
ALB       P02768     VAR_014291  p.Ala215Thr    Polymorphism  rs3210154      -
ALB       P02768     VAR_014292  p.Ala215Val    Polymorphism  rs3204504      -
ALB       P02768     VAR_014293  p.Gln220Leu    Polymorphism  rs3210163      -
ALB       P02768     VAR_014294  p.Glu420Lys    Polymorphism  -              -
ALB       P02768     VAR_014295  p.Lys490Glu    Polymorphism  rs1063469      -
ALCAM     Q13740     VAR_003907  p.Asn258Ser    Polymorphism  rs1044240      -
ALCAM     Q13740     VAR_003908  p.Thr301Met    Polymorphism  rs1044243      -
ALCAM     Q13740     VAR_029514  p.Gly229Asp    Polymorphism  rs10933819     -
ALCAM     Q13740     VAR_029515  p.Leu315Met    Polymorphism  rs12629872     -
ALCAM     Q13740     VAR_029516  p.Val352Met    Polymorphism  rs2291375      -
ALCAM     Q13740     VAR_049856  p.Met367Ile    Polymorphism  rs34926152     -
ALDH16A1  Q8IZ83     VAR_037638  p.Glu110Lys    Polymorphism  rs3745312      -
ALDH16A1  Q8IZ83     VAR_037639  p.Leu227Val    Polymorphism  rs1320303      -
ALDH18A1  P54886     VAR_038482  p.Arg84Gln     Disease       rs121434582    Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
ALDH18A1  P54886     VAR_051792  p.Thr299Ile    Disease       rs2275272      Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
ALDH18A1  P54886     VAR_051793  p.Ser372Tyr    Polymorphism  rs3765571      -
ALDH18A1  P54886     VAR_058006  p.His784Tyr    Disease       rs121434583    Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
ALDH18A1  P54886     VAR_075884  p.Gly93Arg     Disease       -              Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
ALDH18A1  P54886     VAR_075885  p.Val120Ala    Disease       rs863224945    Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
ALDH18A1  P54886     VAR_075886  p.Arg128His    Disease       rs768323248    Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
ALDH18A1  P54886     VAR_075887  p.Arg138Leu    Disease       rs863225045    Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603]
ALDH18A1  P54886     VAR_075888  p.Arg138Gln    Disease       rs863225045    Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603]
ALDH18A1  P54886     VAR_075889  p.Arg138Trp    Disease       rs863225044    Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603]
ALDH18A1  P54886     VAR_075890  p.Val243Leu    Disease       rs864321669    Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
ALDH18A1  P54886     VAR_075891  p.Arg252Gln    Disease       rs864321670    Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
ALDH18A1  P54886     VAR_075892  p.Leu637Pro    Disease       rs869320690    Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
ALDH18A1  P54886     VAR_075893  p.Ser652Phe    Disease       -              Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
ALDH18A1  P54886     VAR_075894  p.Arg665Leu    Disease       rs766264810    Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
ALDH18A1  P54886     VAR_075895  p.Asp715His    Disease       rs752669339    Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
ALDH18A1  P54886     VAR_075896  p.Tyr782Cys    Disease       rs774047299    Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
ALDH1A1   P00352     VAR_017778  p.Ile177Phe    Polymorphism  rs8187929      -
ALDH1A1   P00352     VAR_048901  p.Asn121Ser    Polymorphism  rs1049981      -
ALDH1A1   P00352     VAR_048902  p.Gly125Arg    Polymorphism  rs11554423     -
ALDH1A2   O94788     VAR_025439  p.Glu50Gly     Polymorphism  rs34266719     -
ALDH1A2   O94788     VAR_025440  p.Ala110Val    Polymorphism  rs35365164     -
ALDH1A2   O94788     VAR_025441  p.Val348Ile    Polymorphism  rs4646626      -
ALDH1A2   O94788     VAR_025442  p.Glu436Lys    Polymorphism  rs34744827     -
ALDH1A3   P47895     VAR_019706  p.Met386Val    Polymorphism  rs3803430      -
ALDH1A3   P47895     VAR_069322  p.Arg89Cys     Disease       rs397514652    Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_069323  p.Ala145Val    Disease       rs754619607    Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_069324  p.Ile369Phe    Disease       -              Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_069325  p.Ala493Pro    Disease       rs397514653    Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_072332  p.Val71Met     Disease       rs386834230    Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_072333  p.Cys174Tyr    Disease       -              Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_072334  p.Pro355Arg    Disease       -              Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_072335  p.Gly382Arg    Disease       -              Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_072336  p.Glu411Lys    Disease       -              Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_072337  p.Asn466Lys    Disease       -              Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1B1   P30837     VAR_002257  p.Ala86Val     Polymorphism  rs2228093      -
ALDH1B1   P30837     VAR_002258  p.Leu107Arg    Polymorphism  rs2073478      -
ALDH1B1   P30837     VAR_029891  p.Thr202Ile    Polymorphism  rs4646773      -
ALDH1B1   P30837     VAR_029892  p.Val253Met    Polymorphism  rs4878199      -
ALDH1L1   O75891     VAR_036101  p.Ala511Val    Unclassified  rs768309358    A colorectal cancer sample
ALDH1L1   O75891     VAR_052290  p.Leu254Pro    Polymorphism  rs3796191      -
ALDH1L1   O75891     VAR_052291  p.Val330Phe    Polymorphism  rs2886059      -
ALDH1L1   O75891     VAR_052292  p.Glu429Ala    Polymorphism  rs9282691      -
ALDH1L1   O75891     VAR_052293  p.Ala436Thr    Polymorphism  rs9282692      -
ALDH1L1   O75891     VAR_052295  p.Ser448Asn    Polymorphism  rs9282697      -
ALDH1L1   O75891     VAR_052296  p.Ser481Gly    Polymorphism  rs2276724      -
ALDH1L1   O75891     VAR_052297  p.Asp793Gly    Polymorphism  rs1127717      -
ALDH1L1   O75891     VAR_052298  p.Glu803Lys    Polymorphism  rs9282689      -
ALDH1L1   O75891     VAR_052299  p.Ile812Val    Polymorphism  rs4646750      -
ALDH2     P05091     VAR_002248  p.Glu504Lys    Polymorphism  rs671          -
ALDH2     P05091     VAR_011302  p.Glu496Lys    Polymorphism  rs769724893    -
ALDH2     P05091     VAR_011869  p.Glu337Val    Polymorphism  rs1062136      -
ALDH3A1   P30838     VAR_011303  p.Pro329Ala    Polymorphism  rs2228100      -
ALDH3A1   P30838     VAR_018981  p.Ser134Ala    Polymorphism  rs887241       -
ALDH3A1   P30838     VAR_018982  p.Gly309Glu    Polymorphism  rs3744692      -
ALDH3A2   P51648     VAR_002249  p.Leu106Arg    Disease       rs72547558     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002250  p.Cys214Tyr    Disease       rs72547564     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002251  p.Cys226Trp    Disease       rs72547565     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002252  p.Asp245Asn    Disease       rs72547568     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002254  p.Pro315Ser    Disease       rs72547571     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002255  p.Ser365Leu    Disease       rs72547573     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002256  p.Gly412Arg    Disease       rs778115541    Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017510  p.Ile45Phe     Disease       -              Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017511  p.Val64Asp     Disease       rs72547556     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017512  p.Pro114Leu    Disease       rs72547559     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017513  p.Pro121Leu    Disease       rs72547560     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017514  p.Thr184Met    Disease       rs72547562     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017515  p.Thr184Arg    Disease       -              Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017516  p.Gly185Ala    Disease       rs72547563     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017517  p.Arg228Cys    Disease       rs72547566     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017518  p.Cys237Tyr    Disease       rs72547567     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017519  p.Lys266Asn    Disease       rs72547569     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017520  p.Tyr279Asn    Disease       rs72547570     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017521  p.Met328Ile    Disease       rs72547572     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017522  p.Asn386Ser    Disease       rs72547575     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017523  p.Gly406Arg    Disease       -              Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017524  p.His411Tyr    Disease       -              Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017525  p.Ser415Asn    Disease       -              Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017526  p.Phe419Ser    Disease       rs72547576     Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017527  p.Arg423His    Disease