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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
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Description: Human polymorphisms and disease mutations: index
Name:        humsavar.txt
Release:     2014_11 of 26-Nov-2014

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Important note: variants classification is intended for research purposes
only, not for clinical and diagnostic use. The label disease variant is
assigned according to literature reports on probable disease-association
that can be based on theoretical reasons. Therefore this label must not be
considered as a definitive proof for the pathogenic role of a variant. 

Statistics for single amino acid variants:

             Disease variants: 25347
             Polymorphisms: 38035
             Unclassified variants: 6647
             Total: 70029 


Main      Swiss-Prot             AA             Type of
gene name AC         FTId        change         variant       dbSNP       Disease name
_________ __________ __________  ____________   ____________  ___________ _____________________
A1BG      P04217     VAR_018369  p.His52Arg     Polymorphism  rs893184    -
A1BG      P04217     VAR_018370  p.His395Arg    Polymorphism  rs2241788   -
A1CF      Q9NQ94     VAR_052201  p.Val555Met    Polymorphism  rs9073      -
A1CF      Q9NQ94     VAR_059821  p.Ala558Ser    Polymorphism  rs11817448  -
A2ML1     A8K2U0     VAR_055463  p.Gly207Arg    Polymorphism  rs11047499  -
A2ML1     A8K2U0     VAR_055464  p.Cys970Tyr    Polymorphism  rs1558526   -
A2ML1     A8K2U0     VAR_055465  p.Thr1131Met   Polymorphism  rs7959680   -
A2ML1     A8K2U0     VAR_055466  p.Thr1412Ala   Polymorphism  rs7315591   -
A2ML1     A8K2U0     VAR_059083  p.Asp850Glu    Polymorphism  rs1860926   -
A2ML1     A8K2U0     VAR_059084  p.His1229Arg   Polymorphism  rs10219561  -
A2ML1     A8K2U0     VAR_071854  p.Arg1122Trp   Polymorphism  rs1860967   -
A2ML1     A8K2U0     VAR_071855  p.Met1257Val   Polymorphism  rs7308811   -
A2ML1     A8K2U0     VAR_071856  p.Thr1312Met   Polymorphism  rs201083574 -
A2M       P01023     VAR_000012  p.Arg704His    Polymorphism  rs1800434   -
A2M       P01023     VAR_000013  p.Cys972Tyr    Polymorphism  rs1800433   -
A2M       P01023     VAR_000014  p.Ile1000Val   Polymorphism  rs669       -
A2M       P01023     VAR_026820  p.Asn639Asp    Polymorphism  rs226405    -
A2M       P01023     VAR_026821  p.Leu815Gln    Polymorphism  rs3180392   -
A4GALT    Q9NPC4     VAR_014296  p.Met37Val     Polymorphism  rs11541159  -
A4GALT    Q9NPC4     VAR_014297  p.Met183Lys    Unclassified  -           -
A4GALT    Q9NPC4     VAR_017508  p.Gly187Asp    Polymorphism  rs28940572  -
A4GALT    Q9NPC4     VAR_017509  p.Pro251Leu    Polymorphism  rs28940571  -
A4GALT    Q9NPC4     VAR_022320  p.Gln163Arg    Polymorphism  rs28915383  -
A4GNT     Q9UNA3     VAR_022096  p.Ala218Asp    Polymorphism  rs2246945   -
AAAS      Q9NRG9     VAR_012804  p.Gln15Lys     Disease       -           Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS      Q9NRG9     VAR_012805  p.His160Arg    Disease       -           Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS      Q9NRG9     VAR_012806  p.Ser263Pro    Disease       rs121918550 Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS      Q9NRG9     VAR_037060  p.Lys108Met    Polymorphism  rs13330     -
AACS      Q86V21     VAR_038303  p.Ile118Val    Polymorphism  rs12831803  -
AACS      Q86V21     VAR_060997  p.Ala470Val    Polymorphism  rs59883951  -
AADACL2   Q6P093     VAR_038140  p.Ala186Ser    Polymorphism  rs1972977   -
AADACL2   Q6P093     VAR_038141  p.Leu343Ile    Polymorphism  rs1052562   -
AADACL3   Q5VUY0     VAR_060665  p.Cys195Phe    Polymorphism  rs7513079   -
AADACL3   Q5VUY0     VAR_060666  p.Ser47Pro     Polymorphism  rs3010877   -
AADACL3   Q5VUY0     VAR_060667  p.Leu71Met     Polymorphism  rs3000859   -
AADACL3   Q5VUY0     VAR_060668  p.Arg129Trp    Polymorphism  rs17038445  -
AADACL3   Q5VUY0     VAR_060670  p.Met250Ile    Polymorphism  rs3000931   -
AADACL3   Q5VUY0     VAR_060671  p.Pro280Leu    Polymorphism  rs11121969  -
AADAC     P22760     VAR_014798  p.Val281Ile    Polymorphism  rs1803155   -
AADAT     Q8N5Z0     VAR_061005  p.Val243Ile    Polymorphism  rs56350236  -
AAED1     Q7RTV5     VAR_052598  p.Arg83Lys     Polymorphism  rs9886834   -
AAGAB     Q6PD74     VAR_021533  p.Ile132Leu    Polymorphism  rs7173826   -
AAK1      Q2M2I8     VAR_031129  p.Lys509Gln    Polymorphism  rs6715776   -
AAK1      Q2M2I8     VAR_040348  p.Ile59Val     Polymorphism  rs34535244  -
AAK1      Q2M2I8     VAR_040349  p.Gln533His    Polymorphism  -           -
AAK1      Q2M2I8     VAR_040350  p.Val603Ala    Polymorphism  rs56038532  -
AAK1      Q2M2I8     VAR_040351  p.Thr694Met    Polymorphism  rs55889248  -
AAK1      Q2M2I8     VAR_040352  p.Pro725Thr    Polymorphism  rs35285785  -
AAK1      Q2M2I8     VAR_040353  p.Pro771Arg    Polymorphism  rs34422616  -
AAK1      Q2M2I8     VAR_040354  p.Gly835Asp    Polymorphism  -           -
AAMDC     Q9H7C9     VAR_052696  p.Val92Met     Polymorphism  rs2186564   -
AAMP      Q13685     VAR_037061  p.Ile250Val    Polymorphism  rs2305835   -
AANAT     Q16613     VAR_048168  p.Arg15Cys     Polymorphism  rs34470791  -
AANAT     Q16613     VAR_055086  p.Ala129Thr    Disease       rs28936679  Delayed sleep phase syndrome (DSPS) [MIM:614163]
AAR2      Q9Y312     VAR_048127  p.Pro124Thr    Polymorphism  rs6121183   -
AARD      Q4LEZ3     VAR_043570  p.Gly96Arg     Polymorphism  rs16889283  -
AARS2     Q5JTZ9     VAR_027609  p.Ile339Val    Polymorphism  rs324136    -
AARS2     Q5JTZ9     VAR_027610  p.Ala484Asp    Polymorphism  rs495294    -
AARS2     Q5JTZ9     VAR_057357  p.Met850Val    Polymorphism  rs35783144  -
AARS2     Q5JTZ9     VAR_065956  p.Leu155Arg    Disease       -           Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]
AARS2     Q5JTZ9     VAR_065957  p.Arg592Trp    Disease       -           Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]
AARS2     Q5JTZ9     VAR_071837  p.Phe50Cys     Disease       -           Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
AARS2     Q5JTZ9     VAR_071838  p.Ala77Val     Unclassified  -           -
AARS2     Q5JTZ9     VAR_071840  p.Arg199Cys    Unclassified  -           -
AARS2     Q5JTZ9     VAR_071841  p.Glu405Lys    Disease       -           Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
AARS2     Q5JTZ9     VAR_071842  p.Val730Met    Unclassified  -           -
AARS2     Q5JTZ9     VAR_071843  p.Gly965Arg    Disease       -           Leukoencephalopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
AARS      P49588     VAR_028204  p.Gly275Asp    Polymorphism  rs11537667  -
AARS      P49588     VAR_063527  p.Arg329His    Disease       -           Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]
AARS      P49588     VAR_067084  p.Asn71Tyr     Disease       -           Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]
AASDH     Q4L235     VAR_038309  p.Lys368Arg    Polymorphism  rs3796543   -
AASDH     Q4L235     VAR_038310  p.Ala747Val    Polymorphism  rs3796544   -
AASDH     Q4L235     VAR_038311  p.Val774Ile    Polymorphism  rs3796545   -
AASDH     Q4L235     VAR_038312  p.Thr865Ala    Polymorphism  rs12498340  -
AASDH     Q4L235     VAR_038313  p.Tyr1030Asp   Polymorphism  rs8340      -
AASDH     Q4L235     VAR_061008  p.Ile61Val     Polymorphism  rs34543011  -
AASDH     Q4L235     VAR_061009  p.Pro93Arg     Polymorphism  rs34228795  -
AATK      Q6ZMQ8     VAR_027267  p.Thr118Met    Polymorphism  rs8082016   -
AATK      Q6ZMQ8     VAR_032679  p.Ser81Phe     Unclassified  -           An ovarian mucinous carcinoma sample
AATK      Q6ZMQ8     VAR_032680  p.Leu97Val     Unclassified  -           A lung adenocarcinoma sample
AATK      Q6ZMQ8     VAR_032681  p.Met104Val    Unclassified  -           An ovarian mucinous carcinoma sample
AATK      Q6ZMQ8     VAR_032682  p.Gly703Cys    Polymorphism  rs7503604   -
AATK      Q6ZMQ8     VAR_032683  p.Ser815Arg    Polymorphism  rs56032966  -
AATK      Q6ZMQ8     VAR_032684  p.Ser923Leu    Polymorphism  rs56313973  -
AATK      Q6ZMQ8     VAR_032685  p.Glu1160Lys   Polymorphism  rs55793641  -
AATK      Q6ZMQ8     VAR_032686  p.Pro1192Ser   Polymorphism  rs55856613  -
AATK      Q6ZMQ8     VAR_032687  p.Phe1266Ser   Polymorphism  rs36000545  -
AATK      Q6ZMQ8     VAR_032688  p.Ala1332Thr   Polymorphism  rs55713566  -
ABAT      P80404     VAR_008883  p.Arg220Lys    Disease       -           GABA transaminase deficiency (GABATD) [MIM:613163]
ABAT      P80404     VAR_018979  p.Gln56Arg     Polymorphism  rs1731017   -
ABCA10    Q8WWZ4     VAR_028384  p.Pro203Ser    Polymorphism  rs9909216   -
ABCA10    Q8WWZ4     VAR_028385  p.Ile287Val    Polymorphism  rs11657804  -
ABCA10    Q8WWZ4     VAR_028386  p.Met916Thr    Polymorphism  rs4968849   -
ABCA10    Q8WWZ4     VAR_055469  p.Arg1322Trp   Polymorphism  rs10491178  -
ABCA12    Q86UK0     VAR_019597  p.Ser459Thr    Polymorphism  rs7560008   -
ABCA12    Q86UK0     VAR_019598  p.Asn1380Ser   Disease       rs28940269  Ichthyosis, 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   Disease       rs726070    Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]
ABCA12    Q86UK0     VAR_055473  p.Trp199Cys    Polymorphism  rs16853238  -
ABCA12    Q86UK0     VAR_055474  p.Asn237His    Polymorphism  rs11890512  -
ABCA12    Q86UK0     VAR_055475  p.Gln274Arg    Polymorphism  rs11890468  -
ABCA12    Q86UK0     VAR_055476  p.Arg287Gly    Polymorphism  rs11891778  -
ABCA12    Q86UK0     VAR_062663  p.Ala476Val    Unclassified  -           A pancreatic ductal adenocarcinoma sample
ABCA12    Q86UK0     VAR_067075  p.Thr345Pro    Disease       -           Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067076  p.Ser387Asn    Disease       -           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       -           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       -           Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067081  p.Gly1559Val   Disease       -           Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067082  p.Pro1798Leu   Disease       -           Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA12    Q86UK0     VAR_067083  p.Thr1980Lys   Disease       -           Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
ABCA13    Q86UQ4     VAR_055470  p.Thr1508Ile   Polymorphism  rs6583483   -
ABCA13    Q86UQ4     VAR_059087  p.Pro506Leu    Polymorphism  rs1880738   -
ABCA13    Q86UQ4     VAR_059088  p.Arg555His    Polymorphism  rs2361519   -
ABCA13    Q86UQ4     VAR_059089  p.Ile767Ser    Polymorphism  rs17712293  -
ABCA13    Q86UQ4     VAR_059090  p.Glu799Lys    Polymorphism  rs17547816  -
ABCA13    Q86UQ4     VAR_059091  p.Ile1434Val   Polymorphism  rs17132195  -
ABCA13    Q86UQ4     VAR_059092  p.Phe1540Leu   Polymorphism  rs17712299  -
ABCA13    Q86UQ4     VAR_059093  p.Ile1889Lys   Polymorphism  rs17132197  -
ABCA13    Q86UQ4     VAR_059094  p.Asn2033Asp   Polymorphism  rs17661364  -
ABCA13    Q86UQ4     VAR_059095  p.Ser2154Leu   Polymorphism  rs17092911  -
ABCA13    Q86UQ4     VAR_059096  p.Ala2178Glu   Polymorphism  rs1880736   -
ABCA13    Q86UQ4     VAR_059097  p.Leu2212Ser   Polymorphism  rs17132198  -
ABCA13    Q86UQ4     VAR_059098  p.Lys2436Arg   Polymorphism  rs17132206  -
ABCA13    Q86UQ4     VAR_059099  p.Ser2537Ala   Polymorphism  rs17132208  -
ABCA13    Q86UQ4     VAR_059100  p.Arg2674Trp   Polymorphism  rs2222648   -
ABCA13    Q86UQ4     VAR_059101  p.Ala3142Val   Polymorphism  rs3931814   -
ABCA13    Q86UQ4     VAR_059102  p.Tyr3851Phe   Polymorphism  rs17132289  -
ABCA13    Q86UQ4     VAR_059103  p.Asn4277Asp   Polymorphism  rs4917152   -
ABCA13    Q86UQ4     VAR_059104  p.Gln4302Arg   Polymorphism  rs4917153   -
ABCA13    Q86UQ4     VAR_059105  p.Pro4335Ala   Polymorphism  rs17132370  -
ABCA1     O95477     VAR_009145  p.Val399Ala    Polymorphism  rs9282543   -
ABCA1     O95477     VAR_009146  p.Arg587Trp    Disease       rs2853574   High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009147  p.Trp590Ser    Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009148  p.Gln597Arg    Disease       rs2853578   High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009150  p.Asn935Ser    Disease       rs28937313  High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009151  p.Ala937Val    Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009152  p.Asp1289Asn   Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009153  p.Cys1477Arg   Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009154  p.Ile1517Arg   Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_009155  p.Asn1800His   Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_012618  p.Arg219Lys    Polymorphism  rs2230806   -
ABCA1     O95477     VAR_012619  p.Arg230Cys    Disease       rs9282541   High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1     O95477     VAR_012620  p.Ala255Thr    Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_012621  p.Val771Met    Polymorphism  rs2066718   -
ABCA1     O95477     VAR_012622  p.Thr774Pro    Polymorphism  rs35819696  -
ABCA1     O95477     VAR_012623  p.Lys776Asn    Polymorphism  rs138880920 -
ABCA1     O95477     VAR_012624  p.Val825Ile    Polymorphism  rs2066715   -
ABCA1     O95477     VAR_012625  p.Ile883Met    Polymorphism  rs2066714   -
ABCA1     O95477     VAR_012626  p.Thr929Ile    Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_012627  p.Ala1046Asp   Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_012628  p.Met1091Thr   Disease       -           High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1     O95477     VAR_012629  p.Glu1172Asp   Polymorphism  rs33918808  -
ABCA1     O95477     VAR_012630  p.Ser1506Leu   Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_012631  p.Lys1587Arg   Polymorphism  rs2230808   -
ABCA1     O95477     VAR_012632  p.Asn1611Asp   Disease       -           -
ABCA1     O95477     VAR_012633  p.Ser1731Cys   Polymorphism  -           -
ABCA1     O95477     VAR_012635  p.Arg2081Trp   Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_012636  p.Pro2150Leu   Disease       -           High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1     O95477     VAR_012637  p.Leu2168Pro   Polymorphism  rs2853577   -
ABCA1     O95477     VAR_012638  p.Ile1555Thr   Polymorphism  rs1997618   -
ABCA1     O95477     VAR_012639  p.Leu1648Pro   Polymorphism  rs1883024   -
ABCA1     O95477     VAR_017016  p.Ser1181Phe   Polymorphism  rs76881554  -
ABCA1     O95477     VAR_017529  p.Pro85Leu     Disease       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  -           A colorectal cancer sample
ABCA1     O95477     VAR_035727  p.Ala2109Thr   Unclassified  -           A colorectal cancer sample
ABCA1     O95477     VAR_037968  p.Asn935His    Disease       rs28937314  High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_037969  p.Val1054Ile   Polymorphism  rs13306072  -
ABCA1     O95477     VAR_037970  p.Arg1680Trp   Disease       rs137854498 High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_037971  p.Phe2009Ser   Disease       -           High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]
ABCA1     O95477     VAR_062481  p.Pro248Ala    Polymorphism  -           -
ABCA1     O95477     VAR_062482  p.Glu284Lys    Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062483  p.Ser364Cys    Polymorphism  -           -
ABCA1     O95477     VAR_062484  p.Lys401Gln    Polymorphism  -           -
ABCA1     O95477     VAR_062485  p.Tyr482Cys    Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062486  p.Arg496Trp    Polymorphism  rs147675550 -
ABCA1     O95477     VAR_062487  p.Trp590Leu    Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062488  p.Arg638Gln    Unclassified  -           -
ABCA1     O95477     VAR_062489  p.Thr774Ser    Polymorphism  -           -
ABCA1     O95477     VAR_062490  p.Glu815Gly    Polymorphism  rs145582736 -
ABCA1     O95477     VAR_062491  p.Trp840Arg    Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062492  p.Pro1065Ser   Polymorphism  -           -
ABCA1     O95477     VAR_062493  p.Arg1068Cys   Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062494  p.Gly1216Val   Polymorphism  -           -
ABCA1     O95477     VAR_062495  p.Arg1341Thr   Polymorphism  rs147743782 -
ABCA1     O95477     VAR_062496  p.Ser1376Gly   Polymorphism  -           -
ABCA1     O95477     VAR_062497  p.Leu1379Phe   Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062498  p.Arg1615Gln   Unclassified  -           -
ABCA1     O95477     VAR_062499  p.Ala1670Thr   Unclassified  -           -
ABCA1     O95477     VAR_062500  p.Arg1680Gln   Polymorphism  rs150125857 -
ABCA1     O95477     VAR_062501  p.Val1704Asp   Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062502  p.Arg1851Gln   Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062503  p.Arg1897Trp   Unclassified  -           -
ABCA1     O95477     VAR_062504  p.Arg1901Ser   Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062505  p.Arg1925Gln   Polymorphism  rs142688906 -
ABCA1     O95477     VAR_062506  p.Phe2163Ser   Unclassified  -           -
ABCA1     O95477     VAR_062507  p.Gln2196His   Disease       -           High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]
ABCA1     O95477     VAR_062508  p.Asp2243Glu   Polymorphism  rs34879708  -
ABCA1     O95477     VAR_062509  p.Val2244Ile   Polymorphism  rs144588452 -
ABCA2     Q9BZC7     VAR_044526  p.His583Pro    Polymorphism  rs908828    -
ABCA2     Q9BZC7     VAR_044527  p.Phe674Val    Polymorphism  rs2090625   -
ABCA3     Q99758     VAR_023497  p.Leu101Pro    Disease       rs28936412  Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_023498  p.Asn568Asp    Disease       -           Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_023499  p.Leu1553Pro   Disease       -           Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_023500  p.Gln1591Pro   Disease       rs28936691  Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
ABCA3     Q99758     VAR_025061  p.Asn140His    Polymorphism  rs45447801  -
ABCA3     Q99758     VAR_025062  p.Pro766Ser    Polymorphism  rs45592239  -
ABCA3     Q99758     VAR_035728  p.Leu290Met    Unclassified  -           A breast cancer sample
ABCA3     Q99758     VAR_035729  p.Glu801Asp    Unclassified  -           A breast cancer sample
ABCA3     Q99758     VAR_035730  p.His1069Gln   Unclassified  -           A breast cancer sample
ABCA4     P78363     VAR_008398  p.Arg18Trp     Disease       rs121909205 Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008399  p.Arg24His     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008400  p.Cys54Tyr     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008401  p.Gly65Glu     Disease       -           Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008401  p.Gly65Glu     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008402  p.Cys75Gly     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008403  p.Asn96Asp     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008404  p.Asn96His     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008405  p.Ala192Thr    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008406  p.Arg212Cys    Disease       -           Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008406  p.Arg212Cys    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008407  p.Asp249Gly    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008408  p.Thr300Asn    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008409  p.Ser336Cys    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008410  p.Tyr340Asp    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008411  p.Ala407Val    Disease       -           Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008411  p.Ala407Val    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008412  p.Ser445Arg    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008413  p.Glu471Lys    Disease       rs1800548   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       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008415  p.Leu541Pro    Disease       -           Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008415  p.Leu541Pro    Disease       -           Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008415  p.Leu541Pro    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008416  p.Arg572Pro    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008417  p.Arg572Gln    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008418  p.Arg602Trp    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008419  p.Phe608Ile    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008420  p.Val643Gly    Polymorphism  rs114572202 -
ABCA4     P78363     VAR_008421  p.Asp645Asn    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008422  p.Gly818Glu    Disease       -           Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008422  p.Gly818Glu    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008423  p.Trp821Arg    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008424  p.Gly851Asp    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008425  p.Gly863Ala    Disease       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       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008430  p.Asn965Ser    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008431  p.Gly978Cys    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008432  p.Glu1036Lys   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008433  p.Ala1038Val   Disease       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       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008435  p.Val1072Ala   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008436  p.Glu1087Lys   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008437  p.Thr1112Asn   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008438  p.Glu1122Lys   Disease       -           Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008438  p.Glu1122Lys   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008439  p.Arg1129Leu   Disease       rs1801269   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       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008442  p.Pro1314Thr   Polymorphism  -           -
ABCA4     P78363     VAR_008443  p.Pro1380Leu   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008444  p.His1406Tyr   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008445  p.Trp1408Leu   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008446  p.Trp1408Arg   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008447  p.Thr1428Met   Disease       rs1800549   Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008448  p.Val1429Ala   Disease       -           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       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008451  p.Phe1440Ser   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008452  p.Pro1486Leu   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008453  p.Cys1488Arg   Disease       -           Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008453  p.Cys1488Arg   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008454  p.Cys1490Tyr   Disease       -           Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008454  p.Cys1490Tyr   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008455  p.Arg1517Ser   Disease       rs1800550   Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008456  p.Thr1526Met   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008457  p.Asp1532Asn   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008458  p.Ile1562Thr   Disease       rs1762111   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       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008461  p.Arg1640Trp   Disease       -           Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008461  p.Arg1640Trp   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008462  p.Tyr1652Asp   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008463  p.Ser1696Asn   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008464  p.Gln1703Lys   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008465  p.Leu1729Pro   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008466  p.Ala1794Asp   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008467  p.Arg1820Pro   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008468  p.His1838Tyr   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008469  p.Arg1843Trp   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008470  p.Asn1868Ile   Polymorphism  rs1801466   -
ABCA4     P78363     VAR_008471  p.Gly1886Glu   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008473  p.Arg1898His   Disease       rs1800552   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       rs1800554   Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008476  p.Leu1970Phe   Disease       rs1800554   Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008477  p.Gly1977Ser   Disease       -           Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]
ABCA4     P78363     VAR_008477  p.Gly1977Ser   Disease       -           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       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008483  p.Glu2096Lys   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008484  p.Arg2106Cys   Disease       -           Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_008484  p.Arg2106Cys   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008485  p.Arg2107His   Disease       rs62642564  Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008486  p.His2128Arg   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008487  p.Glu2131Lys   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008488  p.Arg2139Trp   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008489  p.Cys2150Tyr   Disease       -           Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_008489  p.Cys2150Tyr   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008490  p.Lys2160Arg   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008491  p.Asp2177Asn   Polymorphism  rs1800555   -
ABCA4     P78363     VAR_008492  p.Ala60Val     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_008493  p.Asp846His    Polymorphism  -           -
ABCA4     P78363     VAR_008494  p.Ile1846Thr   Polymorphism  -           -
ABCA4     P78363     VAR_008495  p.Arg2038Trp   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_009157  p.Ser2255Ile   Polymorphism  rs6666652   -
ABCA4     P78363     VAR_012493  p.Leu11Pro     Disease       -           Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012495  p.Asn58Lys     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012496  p.Ala60Glu     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012497  p.Ala60Thr     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012498  p.Pro68Leu     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012499  p.Pro68Arg     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012500  p.Gly72Arg     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012501  p.Val77Glu     Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012502  p.Ser100Pro    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012503  p.Arg152Gln    Polymorphism  rs62646862  -
ABCA4     P78363     VAR_012504  p.Ile156Val    Disease       rs62646863  Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012505  p.Gln190His    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012506  p.Ser206Arg    Disease       rs61748536  Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012507  p.Arg212His    Polymorphism  rs6657239   -
ABCA4     P78363     VAR_012508  p.Arg220Cys    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012509  p.Cys230Ser    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012510  p.Leu244Pro    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012511  p.Asn247Ser    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012512  p.Pro309Arg    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012513  p.Glu328Val    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012514  p.Arg333Trp    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012515  p.Trp339Gly    Disease       -           Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012516  p.Asn380Lys    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012517  p.His423Arg    Polymorphism  rs3112831   -
ABCA4     P78363     VAR_012518  p.Phe525Cys    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012519  p.Arg537Cys    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012520  p.Ala549Pro    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012521  p.Gly550Arg    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012522  p.Val552Ile    Polymorphism  -           -
ABCA4     P78363     VAR_012523  p.Arg602Gln    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012524  p.Gly607Arg    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012525  p.Gly607Trp    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012526  p.Gln635Lys    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012527  p.Gln636His    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012528  p.Val643Met    Disease       rs143548435 Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012529  p.Arg653Cys    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012530  p.Leu686Ser    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012531  p.Thr716Met    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012532  p.Cys764Tyr    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012533  p.Ser765Arg    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012534  p.Ser765Asn    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012535  p.Val767Asp    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012536  p.Leu797Pro    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012537  p.Ile824Thr    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012538  p.Val849Ala    Disease       rs61749435  Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012539  p.Ala854Thr    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012541  p.Phe873Leu    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012542  p.Thr897Ile    Disease       rs61749440  Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012543  p.His914Arg    Polymorphism  -           -
ABCA4     P78363     VAR_012544  p.Val935Ala    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012545  p.Arg943Trp    Disease       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       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012547  p.Thr971Asn    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012548  p.Thr972Asn    Unclassified  -           -
ABCA4     P78363     VAR_012549  p.Ser974Pro    Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012550  p.Val989Ala    Disease       rs139296587 Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012551  p.Gly991Arg    Disease       rs147484266 Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012552  p.Leu1014Arg   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012553  p.Thr1019Ala   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012554  p.Thr1019Met   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012555  p.Glu1022Lys   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012556  p.Lys1031Glu   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012557  p.Arg1055Trp   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012558  p.Ser1063Pro   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012559  p.Glu1087Asp   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012560  p.Gly1091Glu   Disease       -           Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012561  p.Arg1097Cys   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012562  p.Arg1108Cys   Disease       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       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012564  p.Arg1108Leu   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012565  p.Arg1129Cys   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012566  p.Lys1148Thr   Polymorphism  -           -
ABCA4     P78363     VAR_012567  p.Leu1250Pro   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012568  p.Thr1253Met   Unclassified  -           -
ABCA4     P78363     VAR_012569  p.Arg1300Gln   Disease       rs61750129  Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012570  p.Leu1388Pro   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012571  p.Glu1399Lys   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012572  p.Leu1430Pro   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012573  p.Phe1440Val   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012574  p.Arg1443His   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012575  p.Cys1488Phe   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012576  p.Cys1488Tyr   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012577  p.Gly1508Cys   Disease       -           Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012578  p.Gln1513Arg   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012579  p.Leu1525Pro   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012580  p.Thr1537Met   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012581  p.Ala1598Asp   Disease       -           Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_012582  p.Ala1637Thr   Polymorphism  -           -
ABCA4     P78363     VAR_012583  p.Arg1640Gln   Disease       -           Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_012583  p.Arg1640Gln   Disease       -           Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012583  p.Arg1640Gln   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012585  p.Ser1689Pro   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012586  p.Val1693Ile   Disease       rs61750563  Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012587  p.Arg1705Leu   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012588  p.Met1733Thr   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012589  p.Ser1736Pro   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012590  p.Gly1748Arg   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012592  p.Leu1763Pro   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012593  p.Pro1776Leu   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012594  p.Pro1780Ala   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012595  p.Asn1799Asp   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012596  p.Asn1805Asp   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012597  p.Glu1817Asp   Polymorphism  -           -
ABCA4     P78363     VAR_012598  p.Val1884Glu   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012599  p.Glu1885Lys   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012600  p.Val1896Asp   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012601  p.Val1921Met   Polymorphism  rs61753032  -
ABCA4     P78363     VAR_012602  p.Leu1940Pro   Disease       -           Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012602  p.Leu1940Pro   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012603  p.Leu1971Arg   Disease       -           Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4     P78363     VAR_012604  p.Gly1975Arg   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012605  p.Leu2035Pro   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012606  p.Gly2059Ala   Polymorphism  -           -
ABCA4     P78363     VAR_012607  p.Leu2060Arg   Disease       -           Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_012608  p.Tyr2071Phe   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012609  p.Arg2077Gly   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012610  p.Arg2107Cys   Disease       rs2297669   Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012611  p.Gly2146Asp   Disease       -           Cone-rod dystrophy 3 (CORD3) [MIM:604116]
ABCA4     P78363     VAR_012612  p.Arg2149Leu   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012613  p.Cys2150Arg   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012614  p.Ala2216Val   Polymorphism  -           -
ABCA4     P78363     VAR_012615  p.Leu2229Pro   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012616  p.Leu2241Val   Disease       rs61748521  Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_012617  p.Arg2263Leu   Disease       -           Stargardt disease 1 (STGD1) [MIM:248200]
ABCA4     P78363     VAR_014703  p.Ser752Ile    Polymorphism  rs1801369   -
ABCA4     P78363     VAR_035736  p.Thr224Met    Unclassified  -           A breast cancer sample
ABCA4     P78363     VAR_067427  p.Ala762Glu    Disease       -           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  -
ABCA8     O94911     VAR_027590  p.Thr256Ala    Polymorphism  rs16973446  -
ABCA8     O94911     VAR_027591  p.Gly331Ser    Polymorphism  rs4147979   -
ABCA8     O94911     VAR_027592  p.Tyr489Phe    Polymorphism  rs12150510  -
ABCA8     O94911     VAR_027593  p.Cys680Gly    Polymorphism  rs16973424  -
ABCA8     O94911     VAR_048130  p.Ala416Val    Polymorphism  rs35621847  -
ABCA8     O94911     VAR_048131  p.Leu619Arg    Polymorphism  rs35844316  -
ABCA8     O94911     VAR_048132  p.Gly1430Ser   Polymorphism  rs35403175  -
ABCA9     Q8IUA7     VAR_027594  p.Arg353His    Polymorphism  rs1860447   -
ABCA9     Q8IUA7     VAR_027595  p.Asn785Ser    Polymorphism  rs17684521  -
ABCA9     Q8IUA7     VAR_027596  p.Lys1306Thr   Polymorphism  rs2302294   -
ABCA9     Q8IUA7     VAR_027597  p.Gly1356Ser   Polymorphism  rs9916254   -
ABCB10    Q9NRK6     VAR_013702  p.Ala150Ser    Polymorphism  rs4148756   -
ABCB10    Q9NRK6     VAR_031435  p.Asp545Asn    Polymorphism  rs35698797  -
ABCB10    Q9NRK6     VAR_035735  p.Arg471Thr    Unclassified  -           A breast cancer sample
ABCB10    Q9NRK6     VAR_048133  p.Arg242Gly    Polymorphism  rs17584642  -
ABCB11    O95342     VAR_010271  p.Glu297Gly    Disease       -           Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_010271  p.Glu297Gly    Disease       -           Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013332  p.Val284Leu    Disease       -           Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013333  p.Val444Ala    Polymorphism  rs2287622   -
ABCB11    O95342     VAR_013334  p.Lys461Glu    Disease       -           Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013335  p.Asp482Gly    Disease       -           Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013336  p.Gly982Arg    Disease       -           Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013337  p.Gly1004Asp   Disease       -           Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013338  p.Arg1153Cys   Disease       -           Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_013339  p.Arg1268Gln   Disease       -           Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_030386  p.Glu186Gly    Disease       -           Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030387  p.Ile206Val    Polymorphism  rs11568357  -
ABCB11    O95342     VAR_030388  p.Gly238Val    Disease       -           Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_030389  p.Arg299Lys    Polymorphism  rs2287617   -
ABCB11    O95342     VAR_030390  p.Cys336Ser    Disease       -           Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]
ABCB11    O95342     VAR_030391  p.Arg432Thr    Disease       -           Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030392  p.Ala570Thr    Disease       -           Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030393  p.Met677Val    Polymorphism  rs11568364  -
ABCB11    O95342     VAR_030394  p.Thr923Pro    Disease       -           Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030395  p.Ala926Pro    Disease       -           Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030396  p.Arg1050Cys   Disease       -           Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030397  p.Arg1128His   Disease       -           Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]
ABCB11    O95342     VAR_030398  p.Glu1186Lys   Polymorphism  rs1521808   -
ABCB11    O95342     VAR_035349  p.Val284Ala    Polymorphism  -           -
ABCB11    O95342     VAR_035350  p.Arg616Gly    Polymorphism  -           -
ABCB11    O95342     VAR_035351  p.Thr619Ala    Polymorphism  -           -
ABCB11    O95342     VAR_035352  p.Arg698His    Polymorphism  rs138642043 -
ABCB11    O95342     VAR_035353  p.Ala865Val    Polymorphism  rs118109635 -
ABCB11    O95342     VAR_035354  p.Arg958Gln    Polymorphism  -           -
ABCB11    O95342     VAR_043074  p.Arg415Gln    Polymorphism  -           -
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   -
ABCB1     P08183     VAR_013361  p.Ser893Ala    Polymorphism  rs2032582   -
ABCB1     P08183     VAR_013362  p.Ser893Thr    Polymorphism  rs2032582   -
ABCB1     P08183     VAR_014704  p.Asn21Asp     Polymorphism  rs9282564   -
ABCB1     P08183     VAR_015001  p.Phe103Leu    Polymorphism  -           -
ABCB1     P08183     VAR_015002  p.Gly185Val    Polymorphism  rs1128501   -
ABCB1     P08183     VAR_015003  p.Ser400Asn    Polymorphism  rs2229109   -
ABCB1     P08183     VAR_015004  p.Ala999Thr    Polymorphism  -           -
ABCB1     P08183     VAR_015005  p.Gln1107Pro   Polymorphism  rs55852620  -
ABCB1     P08183     VAR_018351  p.Glu108Lys    Polymorphism  -           -
ABCB1     P08183     VAR_018352  p.Met986Val    Polymorphism  -           -
ABCB1     P08183     VAR_018353  p.Val1251Ile   Polymorphism  rs28364274  -
ABCB1     P08183     VAR_022276  p.Phe17Leu     Polymorphism  rs28381804  -
ABCB1     P08183     VAR_022277  p.Glu566Lys    Polymorphism  rs28381902  -
ABCB1     P08183     VAR_022278  p.Arg593Cys    Polymorphism  rs28381914  -
ABCB1     P08183     VAR_022279  p.Ile836Val    Polymorphism  rs28381967  -
ABCB1     P08183     VAR_022280  p.Pro1051Ala   Polymorphism  rs28401798  -
ABCB1     P08183     VAR_022281  p.Ser1141Thr   Polymorphism  rs2229107   -
ABCB1     P08183     VAR_035737  p.Lys887Asn    Unclassified  -           A colorectal cancer sample
ABCB1     P08183     VAR_055423  p.Asn44Ser     Polymorphism  rs1202183   -
ABCB1     P08183     VAR_055424  p.Ala80Glu     Polymorphism  rs9282565   -
ABCB1     P08183     VAR_055425  p.Ile261Val    Polymorphism  rs36008564  -
ABCB1     P08183     VAR_055426  p.Ala599Thr    Polymorphism  rs2235036   -
ABCB1     P08183     VAR_055427  p.Arg669Cys    Polymorphism  rs35023033  -
ABCB1     P08183     VAR_055428  p.Val801Met    Polymorphism  rs2235039   -
ABCB1     P08183     VAR_055429  p.Ile829Val    Polymorphism  rs2032581   -
ABCB4     P21439     VAR_020223  p.Leu238Val    Polymorphism  rs45596335  -
ABCB4     P21439     VAR_020225  p.Arg652Gly    Polymorphism  rs2230028   -
ABCB4     P21439     VAR_023501  p.Thr175Ala    Polymorphism  rs58238559  -
ABCB4     P21439     VAR_023502  p.Ser320Phe    Disease       -           Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4     P21439     VAR_023502  p.Ser320Phe    Disease       -           Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_023503  p.Ala546Asp    Disease       -           Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4     P21439     VAR_023504  p.Pro1168Ser   Disease       -           Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_024359  p.Arg788Gln    Polymorphism  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  -           -
ABCB4     P21439     VAR_043080  p.Trp138Arg    Disease       -           Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043081  p.Arg150Lys    Disease       -           Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4     P21439     VAR_043082  p.Phe165Ile    Disease       -           Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043083  p.Met301Thr    Disease       -           Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043084  p.Ser346Ile    Disease       -           Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043085  p.Ile367Val    Polymorphism  -           -
ABCB4     P21439     VAR_043086  p.Glu395Gly    Disease       -           Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043087  p.Thr424Ala    Disease       -           Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043088  p.Val425Met    Disease       -           Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043089  p.Glu450Gly    Polymorphism  -           -
ABCB4     P21439     VAR_043090  p.Glu528Asp    Polymorphism  rs8187797   -
ABCB4     P21439     VAR_043091  p.Gly535Asp    Disease       -           Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043092  p.Ile541Phe    Disease       -           Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043093  p.Leu556Arg    Disease       -           Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043094  p.Asp564Gly    Disease       -           Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043095  p.Arg590Gln    Polymorphism  rs45575636  -
ABCB4     P21439     VAR_043096  p.Leu591Gln    Disease       -           Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043097  p.Phe711Ser    Disease       -           Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043098  p.Gly742Ser    Polymorphism  -           -
ABCB4     P21439     VAR_043099  p.Gly762Glu    Disease       -           Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
ABCB4     P21439     VAR_043100  p.Ile764Leu    Unclassified  -           -
ABCB4     P21439     VAR_043101  p.Thr775Met    Polymorphism  -           -
ABCB4     P21439     VAR_043102  p.Ala934Thr    Disease       rs61730509  Gallbladder disease 1 (GBD1) [MIM:600803]
ABCB4     P21439     VAR_043103  p.Gly983Ser    Disease       rs56187107  Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
ABCB4     P21439     VAR_043104  p.Leu1082Gln   Unclassified  -           -
ABCB5     Q2M3G0     VAR_028387  p.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  -           A pancreatic ductal adenocarcinoma sample
ABCB6     Q9NP58     VAR_029749  p.Arg648Gln    Polymorphism  rs13402964  -
ABCB6     Q9NP58     VAR_035732  p.Arg69Gly     Unclassified  -           A breast cancer sample
ABCB6     Q9NP58     VAR_047552  p.Leu293Val    Polymorphism  rs13018440  -
ABCB6     Q9NP58     VAR_060986  p.Arg343Gln    Polymorphism  rs60322991  -
ABCB6     Q9NP58     VAR_067394  p.Ala57Thr     Disease       -           Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]
ABCB6     Q9NP58     VAR_067395  p.Leu811Val    Disease       -           Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]
ABCB6     Q9NP58     VAR_070602  p.Ser170Gly    Disease       -           Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_070603  p.Leu356Pro    Disease       -           Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_070604  p.Gly579Glu    Disease       -           Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_071133  p.Arg375Gln    Disease       -           -
ABCB6     Q9NP58     VAR_071134  p.Arg375Trp    Disease       -           -
ABCB6     Q9NP58     VAR_071135  p.Ala453Val    Disease       -           Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB6     Q9NP58     VAR_071136  p.Gln555Lys    Disease       -           Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]
ABCB7     O75027     VAR_009156  p.Ile400Met    Disease       -           Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB7     O75027     VAR_012640  p.Glu433Lys    Disease       -           Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB7     O75027     VAR_022872  p.Arg315Gly    Polymorphism  -           -
ABCB7     O75027     VAR_022873  p.Phe346Ile    Polymorphism  -           -
ABCB7     O75027     VAR_022874  p.Val411Leu    Disease       -           Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB7     O75027     VAR_037972  p.Val581Ala    Polymorphism  rs1340989   -
ABCB7     O75027     VAR_055471  p.Ala580Val    Polymorphism  rs1340989   -
ABCB7     O75027     VAR_067354  p.Glu208Asp    Disease       -           Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
ABCB8     Q9NUT2     VAR_013331  p.Val152Ile    Polymorphism  rs4148844   -
ABCB8     Q9NUT2     VAR_035733  p.Ile165Thr    Unclassified  -           A breast cancer sample
ABCB8     Q9NUT2     VAR_035734  p.Ala690Gly    Unclassified  -           A breast cancer sample
ABCB9     Q9NP78     VAR_013701  p.Val121Met    Polymorphism  rs3803002   -
ABCC10    Q5T3U5     VAR_028391  p.Ile948Thr    Polymorphism  rs2125739   -
ABCC11    Q96J66     VAR_025437  p.Arg19His     Polymorphism  rs16945988  -
ABCC11    Q96J66     VAR_025438  p.Gly180Arg    Polymorphism  rs17822931  -
ABCC11    Q96J66     VAR_048144  p.Ala317Glu    Polymorphism  rs11863236  -
ABCC11    Q96J66     VAR_048145  p.Thr546Met    Polymorphism  rs17822471  -
ABCC11    Q96J66     VAR_048146  p.Val648Ile    Polymorphism  rs16945930  -
ABCC11    Q96J66     VAR_048147  p.Val687Ile    Polymorphism  rs16945928  -
ABCC11    Q96J66     VAR_048148  p.Lys735Arg    Polymorphism  rs16945926  -
ABCC11    Q96J66     VAR_048149  p.His1344Arg   Polymorphism  rs16945916  -
ABCC12    Q96J65     VAR_028392  p.Ile9Leu      Polymorphism  rs16945901  -
ABCC12    Q96J65     VAR_028393  p.Ala102Glu    Polymorphism  rs16945874  -
ABCC12    Q96J65     VAR_028394  p.Asn587Tyr    Polymorphism  rs16945816  -
ABCC12    Q96J65     VAR_028395  p.Lys894Met    Polymorphism  rs8057474   -
ABCC12    Q96J65     VAR_028396  p.Thr989Ser    Polymorphism  rs6500305   -
ABCC12    Q96J65     VAR_028397  p.Tyr1013His   Polymorphism  rs6500304   -
ABCC12    Q96J65     VAR_028398  p.Arg1117Cys   Polymorphism  rs7193955   -
ABCC12    Q96J65     VAR_028399  p.Glu1191Ala   Polymorphism  rs16945787  -
ABCC12    Q96J65     VAR_028400  p.Phe1349Leu   Polymorphism  rs12373105  -
ABCC12    Q96J65     VAR_048139  p.Glu690Val    Polymorphism  rs34135219  -
ABCC12    Q96J65     VAR_048140  p.Ile1187Thr   Polymorphism  rs34106426  -
ABCC13    Q9NSE7     VAR_020247  p.Ser228Asn    Polymorphism  rs2822558   -
ABCC1     P33527     VAR_011488  p.Arg633Gln    Polymorphism  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  -           -
ABCC1     P33527     VAR_055384  p.Ala861Thr    Polymorphism  rs45517537  -
ABCC1     P33527     VAR_055385  p.Cys1047Ser   Polymorphism  rs13337489  -
ABCC1     P33527     VAR_055386  p.Val1146Ile   Polymorphism  rs28706727  -
ABCC2     Q92887     VAR_000099  p.Arg768Trp    Disease       rs56199535  Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2     Q92887     VAR_010756  p.Gln1382Arg   Disease       -           Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2     Q92887     VAR_013324  p.Ser281Asn    Polymorphism  rs56131651  -
ABCC2     Q92887     VAR_013325  p.Val417Ile    Polymorphism  rs2273697   -
ABCC2     Q92887     VAR_013326  p.Ser789Phe    Polymorphism  rs56220353  -
ABCC2     Q92887     VAR_013327  p.Arg1150His   Disease       -           Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2     Q92887     VAR_013328  p.Ile1173Phe   Disease       -           Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2     Q92887     VAR_013330  p.Ala1450Thr   Polymorphism  rs56296335  -
ABCC2     Q92887     VAR_020226  p.Asp333Gly    Polymorphism  rs17222674  -
ABCC2     Q92887     VAR_020227  p.Arg353His    Polymorphism  rs7080681   -
ABCC2     Q92887     VAR_020228  p.Ile670Thr    Polymorphism  rs17222632  -
ABCC2     Q92887     VAR_020229  p.Leu849Arg    Polymorphism  rs17222617  -
ABCC2     Q92887     VAR_020230  p.Ile1036Thr   Polymorphism  rs45441199  -
ABCC2     Q92887     VAR_020231  p.Arg1181Leu   Polymorphism  rs8187692   -
ABCC2     Q92887     VAR_020232  p.Val1188Glu   Polymorphism  rs17222723  -
ABCC2     Q92887     VAR_020233  p.Pro1291Leu   Polymorphism  rs17216317  -
ABCC2     Q92887     VAR_020234  p.Cys1515Tyr   Polymorphism  rs8187710   -
ABCC2     Q92887     VAR_024360  p.Thr1273Ala   Polymorphism  rs8187699   -
ABCC2     Q92887     VAR_029113  p.Met246Leu    Polymorphism  rs17222744  -
ABCC2     Q92887     VAR_029115  p.Lys495Glu    Polymorphism  rs17222561  -
ABCC2     Q92887     VAR_029116  p.Phe562Leu    Polymorphism  rs17216233  -
ABCC2     Q92887     VAR_029117  p.Ile982Val    Polymorphism  rs17222554  -
ABCC2     Q92887     VAR_029118  p.Asn1063Ser   Polymorphism  rs17222540  -
ABCC2     Q92887     VAR_047152  p.Tyr39Phe     Polymorphism  rs927344    -
ABCC2     Q92887     VAR_070607  p.Thr486Ile    Unclassified  -           -
ABCC2     Q92887     VAR_070608  p.Gly921Ser    Unclassified  -           -
ABCC2     Q92887     VAR_070609  p.Arg1174His   Polymorphism  rs139188247 -
ABCC2     Q92887     VAR_070610  p.Asn1244Lys   Unclassified  -           -
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    Unclassified  -           -
ABCC4     O15439     VAR_045685  p.Val776Ile    Unclassified  -           -
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       -           Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_011492  p.Arg1138Gln   Disease       rs60791294  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_011493  p.Arg1138Trp   Disease       rs28939701  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_011494  p.Arg1268Gln   Polymorphism  rs2238472   -
ABCC6     O95255     VAR_011495  p.Arg1314Trp   Disease       rs63750759  Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_011495  p.Arg1314Trp   Disease       rs63750759  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013364  p.Gly61Asp     Polymorphism  -           -
ABCC6     O95255     VAR_013365  p.Arg64Trp     Polymorphism  -           -
ABCC6     O95255     VAR_013366  p.Gly207Arg    Polymorphism  -           -
ABCC6     O95255     VAR_013367  p.Arg265Gly    Polymorphism  rs78629019  -
ABCC6     O95255     VAR_013368  p.Lys281Glu    Polymorphism  rs4780606   -
ABCC6     O95255     VAR_013369  p.Ile319Val    Polymorphism  rs72657699  -
ABCC6     O95255     VAR_013370  p.Thr364Arg    Disease       -           Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013371  p.Asn411Lys    Disease       rs9930886   Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013372  p.Ala455Pro    Disease       rs67996819  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013373  p.Asn497Lys    Polymorphism  rs72653770  -
ABCC6     O95255     VAR_013374  p.Arg518Gln    Disease       rs72653772  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013375  p.Phe568Ser    Disease       rs66864704  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013376  p.His632Gln    Polymorphism  rs8058694   -
ABCC6     O95255     VAR_013377  p.Leu673Pro    Disease       rs67470842  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013378  p.Arg765Gln    Disease       rs67561842  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013379  p.Leu953His    Polymorphism  rs72657700  -
ABCC6     O95255     VAR_013380  p.Ser1121Trp   Disease       -           Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013381  p.Arg1138Pro   Disease       -           Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013382  p.Gly1203Asp   Disease       rs63750607  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013383  p.Trp1241Cys   Polymorphism  rs72657701  -
ABCC6     O95255     VAR_013384  p.Val1298Phe   Disease       -           Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013385  p.Thr1301Ile   Disease       rs63750494  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013386  p.Gly1302Arg   Disease       rs63749856  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013387  p.Ala1303Pro   Disease       -           Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013388  p.Arg1314Gln   Disease       -           Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013389  p.Gly1321Ser   Disease       rs63749823  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013390  p.Arg1339Cys   Disease       rs28939702  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013391  p.Gln1347His   Disease       rs67720869  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013392  p.Gly1354Arg   Disease       rs63750018  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013393  p.Asp1361Asn   Disease       rs58695352  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_013394  p.Ile1424Thr   Disease       rs63750295  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_055477  p.Val665Ala    Polymorphism  rs4341770   -
ABCC6     O95255     VAR_059108  p.Met848Val    Polymorphism  rs6416668   -
ABCC6     O95255     VAR_060988  p.Leu1097Ile   Polymorphism  rs60707953  -
ABCC6     O95255     VAR_067841  p.Ala78Thr     Polymorphism  -           -
ABCC6     O95255     VAR_067842  p.Glu125Lys    Polymorphism  rs3853814   -
ABCC6     O95255     VAR_067843  p.Gly129Glu    Disease       -           Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067844  p.Ala158Val    Polymorphism  -           -
ABCC6     O95255     VAR_067845  p.Ser317Arg    Disease       rs78678589  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067846  p.Leu355Arg    Disease       rs72653758  Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067846  p.Leu355Arg    Disease       rs72653758  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067848  p.Asn370Asp    Disease       rs72653760  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067849  p.Arg382Trp    Disease       rs72653761  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067850  p.Arg391Gly    Disease       rs72653762  Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067850  p.Arg391Gly    Disease       rs72653762  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067851  p.Lys392Asn    Disease       -           Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067852  p.Ser398Gly    Disease       rs72653764  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067853  p.Val417Met    Polymorphism  -           -
ABCC6     O95255     VAR_067854  p.Cys440Gly    Disease       rs72653766  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067855  p.Leu463His    Disease       rs72653767  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067856  p.Leu495His    Disease       rs72653769  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067857  p.Val514Ile    Polymorphism  rs59157279  -
ABCC6     O95255     VAR_067858  p.Ser535Pro    Disease       rs72653773  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067859  p.Phe551Ser    Disease       rs72653774  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067860  p.Ser590Phe    Disease       -           Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067861  p.Ala594Val    Disease       rs72653776  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067862  p.Arg600Cys    Disease       rs72653777  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067863  p.Gly663Cys    Disease       rs72653780  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067864  p.Leu677Pro    Disease       rs72653782  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067865  p.Gln698Pro    Disease       rs72653783  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067866  p.Glu699Asp    Disease       rs72653784  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067867  p.Arg724Lys    Polymorphism  rs58073789  -
ABCC6     O95255     VAR_067868  p.Arg724Leu    Polymorphism  -           -
ABCC6     O95255     VAR_067869  p.Leu726Pro    Disease       rs72653785  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067870  p.Ile742Val    Polymorphism  rs59593133  -
ABCC6     O95255     VAR_067871  p.Met751Lys    Disease       rs72653786  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067872  p.Gly755Arg    Disease       rs72653787  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067873  p.Arg760Trp    Disease       rs72653788  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067874  p.Ala766Asp    Disease       rs72653789  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067875  p.Asp777Asn    Disease       rs72653790  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067876  p.Arg807Gln    Disease       rs72653794  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067877  p.Arg807Trp    Disease       rs72653793  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067878  p.Val810Met    Disease       rs72653795  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067879  p.Thr811Met    Disease       rs72653796  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067880  p.Ala820Pro    Disease       rs72653797  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067881  p.Arg881Ser    Disease       rs72653800  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067882  p.Thr944Ile    Disease       rs72653801  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067883  p.Leu946Ile    Polymorphism  rs61340537  -
ABCC6     O95255     VAR_067884  p.Ala950Thr    Disease       rs72657689  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067885  p.Gly992Arg    Disease       rs72657692  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067888  p.Asp1056Glu   Disease       rs72657694  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067889  p.Arg1064Trp   Polymorphism  rs41278174  -
ABCC6     O95255     VAR_067890  p.Arg1114Cys   Disease       rs63749794  Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067890  p.Arg1114Cys   Disease       rs63749794  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067891  p.Ser1121Leu   Disease       -           Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067892  p.Thr1130Met   Disease       rs63750459  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067893  p.Gly1133Ala   Disease       rs63750473  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067894  p.Ala1139Thr   Disease       rs63750146  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067895  p.Arg1164Gln   Disease       rs63750457  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067896  p.Arg1221Cys   Disease       rs63751215  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067897  p.Arg1221His   Disease       rs63751001  Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
ABCC6     O95255     VAR_067898  p.Leu1226Ile   Disease       rs63750125  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067899  p.Arg1235Trp   Disease       rs63750402  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067900  p.Asp1238His   Disease       rs63749796  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067901  p.Leu1335Pro   Disease       -           Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067902  p.Leu1335Gln   Disease       rs63750414  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067903  p.Arg1339Leu   Disease       -           Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067904  p.Arg1339His   Disease       rs63750622  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067905  p.Pro1346Ser   Disease       rs63751112  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067906  p.Arg1357Trp   Disease       rs63750428  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067907  p.Glu1400Lys   Disease       rs63751241  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067908  p.Gln1406Lys   Disease       -           Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6     O95255     VAR_067909  p.Arg1459Cys   Disease       rs72547524  Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC8     Q09428     VAR_000100  p.Gly716Val    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008537  p.Arg1352Pro   Disease       rs28936370  Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008539  p.Arg1420Cys   Disease       rs28938469  Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008540  p.Arg1493Trp   Disease       rs28936371  Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008639  p.Arg74Gln     Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008640  p.His125Gln    Disease       rs60637558  Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008641  p.Val187Asp    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008642  p.Asn188Ser    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008643  p.Arg275Gln    Polymorphism  -           -
ABCC8     Q09428     VAR_008644  p.Asn406Asp    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008645  p.Val560Met    Polymorphism  rs4148619   -
ABCC8     Q09428     VAR_008646  p.Phe591Leu    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008647  p.Asp810Asn    Polymorphism  -           -
ABCC8     Q09428     VAR_008648  p.Arg834Cys    Polymorphism  -           -
ABCC8     Q09428     VAR_008649  p.Thr1138Met   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008650  p.Arg1214Gln   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008651  p.Val1360Gly   Polymorphism  -           -
ABCC8     Q09428     VAR_008652  p.Ala1369Ser   Polymorphism  rs757110    -
ABCC8     Q09428     VAR_008653  p.Gly1378Arg   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008654  p.Gly1381Ser   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008655  p.Arg1393His   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008656  p.Gly1478Arg   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_008658  p.Val1572Ile   Polymorphism  rs8192690   -
ABCC8     Q09428     VAR_015006  p.Asp673Asn    Polymorphism  -           -
ABCC8     Q09428     VAR_015007  p.Val1360Met   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_015008  p.Arg1436Gln   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_015009  p.Glu1506Lys   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_015010  p.Leu1543Pro   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_029777  p.Leu104Val    Polymorphism  rs10400391  -
ABCC8     Q09428     VAR_029778  p.Phe132Leu    Disease       -           Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_029779  p.Leu213Arg    Disease       -           Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_029780  p.Cys435Arg    Disease       -           Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029781  p.Leu582Val    Disease       -           Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029782  p.His1023Tyr   Disease       -           Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029783  p.Arg1182Gln   Disease       -           Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029784  p.Arg1352His   Disease       -           Leucine-induced hypoglycemia (LIH) [MIM:240800]
ABCC8     Q09428     VAR_029785  p.Arg1379Cys   Disease       -           Transient neonatal diabetes mellitus 2 (TNDM2) [MIM:610374]
ABCC8     Q09428     VAR_029787  p.Ile1424Val   Disease       -           Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_031349  p.Gly7Arg      Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031350  p.Val21Asp     Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031351  p.Phe27Ser     Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031352  p.Gly70Glu     Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031353  p.Arg74Trp     Disease       rs201682634 Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031354  p.Val86Ala     Disease       -           Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
ABCC8     Q09428     VAR_031355  p.Gly111Arg    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031356  p.Ala116Pro    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031357  p.Met233Arg    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031358  p.Asp310Asn    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031359  p.Cys418Arg    Disease       rs67254669  Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031360  p.Arg495Gln    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031361  p.Glu501Lys    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031362  p.Leu503Pro    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031363  p.Leu508Pro    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031364  p.Pro551Arg    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031365  p.Arg620Cys    Disease       rs58241708  Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031366  p.Phe686Ser    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031367  p.Lys719Thr    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031368  p.Arg841Gly    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031369  p.Lys889Thr    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031370  p.Ser956Phe    Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031371  p.Thr1130Pro   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031372  p.Leu1147Arg   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031373  p.Arg1214Trp   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031374  p.Asn1295Lys   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031375  p.Lys1336Asn   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031376  p.Gly1342Glu   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031377  p.Leu1349Gln   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031378  p.Lys1384Gln   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031379  p.Ser1386Phe   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031380  p.Gly1400Arg   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031381  p.Arg1418His   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031382  p.Leu1450Pro   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031383  p.Ala1457Thr   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031384  p.Asp1471His   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031385  p.Asp1471Asn   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031386  p.Arg1486Lys   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031387  p.Arg1493Gln   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031388  p.Val1550Asp   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC8     Q09428     VAR_031389  p.Leu1551Val   Disease       -           Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
ABCC9     O60706     VAR_018483  p.Ala1513Thr   Disease       -           Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569]
ABCC9     O60706     VAR_048143  p.Pro1108Ser   Polymorphism  rs35404804  -
ABCC9     O60706     VAR_066210  p.Thr1547Ile   Disease       -           Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050]
ABCC9     O60706     VAR_068485  p.His60Tyr     Disease       -           Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068486  p.Asp207Glu    Disease       -           Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068487  p.Gly380Cys    Disease       -           Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068488  p.Pro432Leu    Disease       -           Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068489  p.Ala478Val    Disease       -           Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068490  p.Ser1020Pro   Disease       -           Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068491  p.Phe1039Ser   Disease       -           Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068492  p.Cys1043Tyr   Disease       -           Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068493  p.Ser1054Tyr   Disease       -           Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068494  p.Arg1116Cys   Disease       -           Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068495  p.Arg1116His   Disease       -           Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068496  p.Arg1154Gln   Disease       -           Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCC9     O60706     VAR_068497  p.Arg1154Trp   Disease       -           Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]
ABCD1     P33897     VAR_000024  p.Ser98Leu     Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000025  p.Arg104Cys    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000026  p.Arg104His    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000027  p.Thr105Ile    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000028  p.Leu107Pro    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000029  p.Ser108Trp    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000030  p.Gly116Arg    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000033  p.Ala141Thr    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000034  p.Asn148Ser    Disease       -           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       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000039  p.Tyr174Asp    Disease       -           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       -           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       -           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       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000060  p.Ala294Thr    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000061  p.Ser342Pro    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000062  p.Arg389Gly    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000063  p.Arg389His    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000064  p.Arg401Gln    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000065  p.Arg418Trp    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000066  p.Pro484Arg    Disease       -           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       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000070  p.Arg518Gln    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000071  p.Arg518Trp    Disease       -           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       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000076  p.Pro560Arg    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000077  p.Met566Lys    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000078  p.Arg591Gln    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000079  p.Ser606Leu    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000080  p.Ser606Pro    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000081  p.Glu609Gly    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000082  p.Glu609Lys    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000083  p.Arg617Cys    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000084  p.Arg617Gly    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000085  p.Arg617His    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000086  p.Ala626Thr    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000087  p.Asp629His    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000089  p.Arg660Trp    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_000090  p.Trp679Arg    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009349  p.Glu90Lys     Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009350  p.Ser103Arg    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009351  p.Thr105Pro    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009352  p.Ser108Leu    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009353  p.Arg113Cys    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009354  p.Pro143Ser    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009355  p.Arg152Leu    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009356  p.Arg152Ser    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009357  p.Ser161Pro    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009358  p.Arg163Pro    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009359  p.Tyr174Cys    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009360  p.Arg189Trp    Disease       -           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       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009371  p.Gly298Asp    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009372  p.Glu302Lys    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009373  p.Leu322Pro    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009374  p.Lys336Met    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009375  p.Arg401Trp    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009376  p.Gly529Ser    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009377  p.Phe540Ser    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009378  p.Pro543Leu    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009379  p.Gln544Arg    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009380  p.Ser552Pro    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009381  p.Arg554His    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009382  p.Arg591Trp    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009383  p.Ala616Val    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009384  p.Glu630Gly    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009385  p.Cys631Tyr    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009386  p.Ser633Arg    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009387  p.Ser636Ile    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009388  p.Asp638Tyr    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009389  p.Ala646Pro    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009390  p.Leu654Pro    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009391  p.His667Asp    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009392  p.Thr668Ile    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_009393  p.Thr693Met    Disease       -           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       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013347  p.Arg280Cys    Disease       -           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       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013356  p.Ala626Asp    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013357  p.Thr632Ile    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013358  p.Ser633Ile    Disease       -           Adrenoleukodystrophy (ALD) [MIM:300100]
ABCD1     P33897     VAR_013359  p.Val635Met    Disease       -           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]
ABCD2     Q9UBJ2     VAR_062664  p.Gln244Lys    Unclassified  -           A pancreatic ductal adenocarcinoma sample
ABCD3     P28288     VAR_000091  p.Gly17Asp     Unclassified  -           -
ABCD4     O14678     VAR_020222  p.Glu368Lys    Polymorphism  rs3742801   -
ABCD4     O14678     VAR_020778  p.Ala304Thr    Polymorphism  rs4148077   -
ABCD4     O14678     VAR_048134  p.Val172Ile    Polymorphism  rs34992370  -
ABCD4     O14678     VAR_048135  p.Thr350Arg    Polymorphism  rs35073715  -
ABCD4     O14678     VAR_069097  p.Tyr319Cys    Disease       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  -           -
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  -           -
ABCG2     Q9UNQ0     VAR_067364  p.Arg160Gln    Polymorphism  -           -
ABCG2     Q9UNQ0     VAR_067365  p.Gly354Arg    Polymorphism  rs138606116 -
ABCG2     Q9UNQ0     VAR_067366  p.Ser441Asn    Polymorphism  -           -
ABCG4     Q9H172     VAR_048141  p.Pro352Leu    Polymorphism  rs35060365  -
ABCG5     Q9H222     VAR_012244  p.Glu146Gln    Disease       -           Sitosterolemia (STSL) [MIM:210250]
ABCG5     Q9H222     VAR_012245  p.Arg389His    Disease       -           Sitosterolemia (STSL) [MIM:210250]
ABCG5     Q9H222     VAR_012246  p.Arg419His    Disease       -           Sitosterolemia (STSL) [MIM:210250]
ABCG5     Q9H222     VAR_012247  p.Arg419Pro    Disease       -           Sitosterolemia (STSL) [MIM:210250]
ABCG5     Q9H222     VAR_012248  p.Arg550Ser    Disease       -           Sitosterolemia (STSL) [MIM:210250]
ABCG5     Q9H222     VAR_012249  p.Gln604Glu    Polymorphism  rs6720173   -
ABCG5     Q9H222     VAR_020781  p.Asn437Lys    Disease       -           Sitosterolemia (STSL) [MIM:210250]
ABCG5     Q9H222     VAR_020782  p.Ile523Val    Polymorphism  -           -
ABCG5     Q9H222     VAR_020783  p.Cys600Tyr    Polymorphism  -           -
ABCG5     Q9H222     VAR_020784  p.Met622Val    Polymorphism  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       -           Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012253  p.Pro231Thr    Disease       -           Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012254  p.Glu238Lys    Polymorphism  rs34754243  -
ABCG8     Q9H221     VAR_012255  p.Ala259Val    Polymorphism  rs35518570  -
ABCG8     Q9H221     VAR_012256  p.Arg263Gln    Disease       rs137852990 Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012257  p.Thr400Lys    Polymorphism  rs4148217   -
ABCG8     Q9H221     VAR_012258  p.Arg405His    Disease       -           Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012259  p.Leu501Pro    Disease       -           Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012260  p.Arg543Ser    Disease       rs201690654 Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012262  p.Leu572Pro    Disease       -           Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012263  p.Gly574Glu    Disease       -           Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012264  p.Gly574Arg    Disease       -           Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012265  p.Gly575Arg    Polymorphism  rs36209700  -
ABCG8     Q9H221     VAR_012266  p.Leu596Arg    Disease       -           Sitosterolemia (STSL) [MIM:210250]
ABCG8     Q9H221     VAR_012267  p.Val632Ala    Polymorphism  rs6544718   -
ABCG8     Q9H221     VAR_020785  p.Tyr641Phe    Polymorphism  -           -
ABCG8     Q9H221     VAR_022074  p.Val210Met    Polymorphism  rs9282574   -
ABCG8     Q9H221     VAR_022075  p.Met655Val    Polymorphism  rs9282573   -
ABHD10    Q9NUJ1     VAR_031194  p.Ile251Val    Polymorphism  rs17429033  -
ABHD12B   Q7Z5M8     VAR_019100  p.Phe334Leu    Polymorphism  rs7154732   -
ABHD12B   Q7Z5M8     VAR_035676  p.Ile282Val    Unclassified  -           A breast cancer sample
ABHD12    Q8N2K0     VAR_050630  p.Ala349Thr    Polymorphism  rs746748    -
ABHD14A   Q9BUJ0     VAR_031390  p.Arg32Gln     Polymorphism  rs17849626  -
ABHD14A   Q9BUJ0     VAR_031391  p.Cys61Trp     Polymorphism  rs404527    -
ABHD15    Q6UXT9     VAR_045821  p.Thr334Ala    Polymorphism  rs542939    -
ABHD16B   Q9H3Z7     VAR_050920  p.Leu10Gln     Polymorphism  rs2281534   -
ABHD17B   Q5VST6     VAR_031230  p.Gln169Lys    Polymorphism  rs17854317  -
ABHD17B   Q5VST6     VAR_054080  p.Arg154Lys    Polymorphism  rs12380380  -
ABHD1     Q96SE0     VAR_031087  p.Asp137Glu    Polymorphism  rs6715286   -
ABHD1     Q96SE0     VAR_031088  p.Trp371Cys    Polymorphism  rs2304678   -
ABHD1     Q96SE0     VAR_052484  p.Pro54Gln     Polymorphism  rs34127901  -
ABHD2     P08910     VAR_031203  p.Arg253Gln    Polymorphism  rs17851730  -
ABHD3     Q8WU67     VAR_031089  p.Arg3Cys      Polymorphism  rs17851878  -
ABHD5     Q8WTS1     VAR_023387  p.Glu7Lys      Disease       rs104893676 Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5     Q8WTS1     VAR_023388  p.Gln130Pro    Disease       rs28939077  Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5     Q8WTS1     VAR_023389  p.Glu260Lys    Disease       rs28939078  Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5     Q8WTS1     VAR_037574  p.Ile72Thr     Polymorphism  rs2302349   -
ABHD5     Q8WTS1     VAR_057953  p.His82Arg     Unclassified  -           -
ABHD5     Q8WTS1     VAR_057954  p.Ser115Gly    Disease       -           Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABI1      Q8IZP0     VAR_048159  p.Gly331Ala    Polymorphism  rs2306236   -
ABI3      Q9P2A4     VAR_022030  p.Arg44Gln     Polymorphism  rs2233369   -
ABI3      Q9P2A4     VAR_060243  p.Ser203Phe    Polymorphism  rs616338    -
ABI3      Q9P2A4     VAR_060993  p.Phe209Ser    Polymorphism  rs616338    -
ABL1      P00519     VAR_025043  p.Gly706Val    Polymorphism  rs34634745  -
ABL1      P00519     VAR_025044  p.Thr852Pro    Polymorphism  -           -
ABL1      P00519     VAR_025045  p.Pro900Ser    Polymorphism  rs35266696  -
ABL1      P00519     VAR_025046  p.Ser972Leu    Polymorphism  rs2229067   -
ABL1      P00519     VAR_032676  p.Arg47Gly     Unclassified  -           A lung large cell carcinoma sample
ABL1      P00519     VAR_032677  p.Arg166Lys    Unclassified  -           A melanoma sample
ABL1      P00519     VAR_032678  p.Pro810Leu    Polymorphism  rs2229071   -
ABL1      P00519     VAR_051692  p.Leu140Pro    Polymorphism  rs1064152   -
ABL1      P00519     VAR_051693  p.Lys247Arg    Polymorphism  rs34549764  -
ABL1      P00519     VAR_051694  p.Ser968Pro    Polymorphism  rs1064165   -
ABL2      P42684     VAR_029232  p.Lys930Arg    Polymorphism  rs17277288  -
ABL2      P42684     VAR_029233  p.Val946Met    Polymorphism  rs28913889  -
ABL2      P42684     VAR_029234  p.Pro996Arg    Polymorphism  rs28913890  -
ABL2      P42684     VAR_029235  p.Ser1085Asn   Polymorphism  rs28913891  -
ABL2      P42684     VAR_029236  p.Thr1101Ala   Polymorphism  rs28913892  -
ABL2      P42684     VAR_055411  p.Arg78His     Polymorphism  rs55655202  -
ABL2      P42684     VAR_055412  p.Glu99Gln     Unclassified  -           -
ABL2      P42684     VAR_055413  p.Arg519Ile    Unclassified  -           -
ABL2      P42684     VAR_055414  p.Thr769Ser    Polymorphism  rs55892721  -
ABLIM1    O14639     VAR_050141  p.Pro434Thr    Polymorphism  rs11593544  -
ABLIM1    O14639     VAR_050142  p.Arg637Gly    Polymorphism  rs7091419   -
ABLIM2    Q6H8Q1     VAR_062665  p.Gly227Arg    Unclassified  -           A pancreatic ductal adenocarcinoma sample
ABLIM2    Q6H8Q1     VAR_062666  p.Lys274Met    Unclassified  -           A pancreatic ductal adenocarcinoma sample
ABLIM3    O94929     VAR_050143  p.Gly125Asp    Polymorphism  rs35907283  -
ABO       P16442     VAR_003409  p.Pro156Leu    Polymorphism  rs1053878   -
ABO       P16442     VAR_003410  p.Arg176Gly    Polymorphism  rs7853989   -
ABO       P16442     VAR_003411  p.Gly235Ser    Polymorphism  rs8176743   -
ABO       P16442     VAR_003412  p.Leu266Met    Polymorphism  rs8176746   -
ABO       P16442     VAR_003413  p.Gly268Ala    Polymorphism  rs8176747   -
ABO       P16442     VAR_003414  p.Arg352Trp    Polymorphism  -           -
ABO       P16442     VAR_019147  p.Gly35Arg     Polymorphism  rs8176696   -
ABO       P16442     VAR_019148  p.Val36Phe     Polymorphism  rs688976    -
ABO       P16442     VAR_019149  p.Arg63His     Polymorphism  rs549446    -
ABO       P16442     VAR_019150  p.Pro74Ser     Polymorphism  rs512770    -
ABO       P16442     VAR_019151  p.Arg161His    Polymorphism  rs8176738   -
ABO       P16442     VAR_019152  p.Arg199Cys    Polymorphism  rs8176739   -
ABO       P16442     VAR_019153  p.Phe216Ile    Polymorphism  rs8176740   -
ABO       P16442     VAR_019154  p.Val277Met    Polymorphism  rs8176748   -
ABO       P16442     VAR_033540  p.Pro257Leu    Polymorphism  rs8176745   -
ABO       P16442     VAR_033541  p.Gly268Arg    Polymorphism  rs8176747   -
ABO       P16442     VAR_036738  p.Thr163Met    Polymorphism  rs55756402  -
ABO       P16442     VAR_036739  p.Arg198Trp    Polymorphism  rs56223957  -
ABO       P16442     VAR_036740  p.Met214Arg    Polymorphism  rs55827808  -
ABO       P16442     VAR_036741  p.Glu223Asp    Polymorphism  -           -
ABO       P16442     VAR_036742  p.Met288Arg    Polymorphism  -           -
ABO       P16442     VAR_036743  p.Asp291Asn    Polymorphism  -           -
ABO       P16442     VAR_036744  p.Lys346Met    Polymorphism  -           -
ABO       P16442     VAR_036745  p.Arg352Gly    Polymorphism  -           -
ABO       P16442     VAR_055227  p.Gly230Arg    Unclassified  -           -
ABR       Q12979     VAR_057186  p.Lys517Arg    Polymorphism  rs34169260  -
ABTB2     Q8N961     VAR_022087  p.His250Gln    Polymorphism  rs1925368   -
ABTB2     Q8N961     VAR_024171  p.Thr918Ala    Polymorphism  rs2473928   -
ACAA1     P09110     VAR_011904  p.Glu172Asp    Polymorphism  rs156265    -
ACAA1     P09110     VAR_069148  p.Val387Ala    Polymorphism  rs2229528   -
ACAA2     P42765     VAR_052577  p.Met217Val    Polymorphism  rs11549285  -
ACACA     Q13085     VAR_028929  p.Ala2271Val   Polymorphism  -           -
ACACA     Q13085     VAR_036514  p.Arg1687Gln   Unclassified  -           A colorectal cancer sample
ACACA     Q13085     VAR_042941  p.Arg838Trp    Polymorphism  rs2287351   -
ACACB     O00763     VAR_031255  p.Ile552Val    Polymorphism  rs16940029  -
ACACB     O00763     VAR_031256  p.Ala651Thr    Polymorphism  rs2300455   -
ACACB     O00763     VAR_031257  p.Val2141Ile   Polymorphism  rs2075260   -
ACACB     O00763     VAR_062667  p.Arg193Leu    Unclassified  -           A pancreatic ductal adenocarcinoma sample
ACAD10    Q6JQN1     VAR_031811  p.Gln200Arg    Polymorphism  rs35276160  -
ACAD10    Q6JQN1     VAR_031812  p.Thr216Pro    Polymorphism  rs35753710  -
ACAD10    Q6JQN1     VAR_031813  p.Asp463Asn    Polymorphism  rs36046440  -
ACAD10    Q6JQN1     VAR_031814  p.Ala880Val    Polymorphism  rs34245489  -
ACAD11    Q709F0     VAR_028825  p.Arg157His    Polymorphism  rs821572    -
ACAD11    Q709F0     VAR_028826  p.Val362Leu    Polymorphism  rs6776576   -
ACAD8     Q9UKU7     VAR_035071  p.Met128Ile    Disease       -           Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035072  p.Asp134Tyr    Disease       -           Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035073  p.Gly137Arg    Disease       -           Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035074  p.Met152Thr    Disease       -           Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035075  p.Val203Ile    Disease       -           Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035076  p.Arg302Gln    Disease       -           Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035077  p.Ala320Thr    Disease       -           Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035078  p.Arg334Cys    Disease       -           Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8     Q9UKU7     VAR_035079  p.Gln385Arg    Disease       -           Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD9     Q9H845     VAR_033459  p.Arg477Gln    Polymorphism  rs4494951   -
ACADL     P28330     VAR_000328  p.Ser303Thr    Polymorphism  rs1801204   -
ACADL     P28330     VAR_000329  p.Lys333Gln    Polymorphism  rs2286963   -
ACADM     P11310     VAR_000317  p.Arg53Cys     Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000319  p.Met149Ile    Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000320  p.Thr193Ala    Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000321  p.Gly195Arg    Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000322  p.Cys244Arg    Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000323  p.Gly267Arg    Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000324  p.Met326Thr    Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_000325  p.Lys329Glu    Disease       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       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_013698  p.Tyr67His     Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_013699  p.Ser245Leu    Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_013700  p.Arg281Thr    Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015954  p.Ile78Thr     Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015955  p.Cys116Tyr    Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015956  p.Thr121Ile    Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015957  p.Arg206Leu    Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015958  p.Gly310Arg    Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_015959  p.Tyr352Cys    Disease       -           Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
ACADM     P11310     VAR_035716  p.Pro132Arg    Unclassified  -           A breast cancer sample
ACADSB    P45954     VAR_013010  p.Leu255Phe    Disease       -           Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]
ACADSB    P45954     VAR_014749  p.Ser209Gly    Polymorphism  rs1799823   -
ACADSB    P45954     VAR_048177  p.Arg13Lys     Polymorphism  rs12263012  -
ACADSB    P45954     VAR_048178  p.Ile316Val    Polymorphism  rs1131430   -
ACADSB    P45954     VAR_048179  p.Glu376Gly    Polymorphism  rs12357783  -
ACADS     P16219     VAR_000310  p.Arg46Trp     Disease       -           Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_000311  p.Gly92Cys     Disease       -           Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_000312  p.Arg107Cys    Disease       -           Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_000314  p.Trp177Arg    Disease       rs57443665  Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_000315  p.Gly209Ser    Polymorphism  rs1799958   -
ACADS     P16219     VAR_000316  p.Arg383Cys    Disease       rs28940872  Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013565  p.Gly90Ser     Disease       -           Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013567  p.Arg171Trp    Polymorphism  rs1800556   -
ACADS     P16219     VAR_013568  p.Ala192Val    Disease       rs28940874  Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013569  p.Arg325Trp    Disease       -           Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013570  p.Ser353Leu    Disease       rs28941773  Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_013571  p.Arg380Trp    Disease       rs28940875  Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]
ACADS     P16219     VAR_033458  p.Arg383His    Polymorphism  rs35233375  -
ACADVL    P49748     VAR_000330  p.Gly43Asp     Polymorphism  rs2230178   -
ACADVL    P49748     VAR_000332  p.Thr158Asn    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000333  p.Gln159Arg    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000334  p.Val174Met    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000335  p.Gly185Ser    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000336  p.Glu218Lys    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000337  p.Leu243Arg    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000338  p.Lys247Thr    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000339  p.Thr260Met    Disease       rs113994168 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000341  p.Ala281Asp    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000342  p.Val283Ala    Disease       rs113994167 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000343  p.Gly290Asp    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000344  p.Gly294Glu    Disease       rs200573371 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000345  p.Lys299Asn    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000347  p.Val317Ala    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000348  p.Met352Val    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000349  p.Arg366Cys    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000350  p.Arg366His    Disease       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       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000358  p.Arg456His    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000359  p.Arg459Trp    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000360  p.Gly463Glu    Disease       rs200366828 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000361  p.Arg469Gln    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000362  p.Arg469Trp    Disease       rs113994170 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000363  p.Leu502Pro    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000364  p.Leu602Ile    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_000365  p.Arg613Trp    Disease       rs118204014 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010101  p.Ala213Pro    Disease       rs140629318 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010102  p.Lys247Glu    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010103  p.Phe458Leu    Disease       rs118204017 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010104  p.Ala490Pro    Disease       -           Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010105  p.Glu534Lys    Disease       rs2230180   Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_010106  p.Arg615Gln    Disease       rs148584617 Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]
ACADVL    P49748     VAR_011990  p.Ala359Ser    Polymorphism  rs1051701   -
ACADVL    P49748     VAR_011991  p.Ser623Phe    Polymorphism  rs13383     -
ACADVL    P49748     VAR_029286  p.Leu17Phe     Polymorphism  rs2230179   -
ACADVL    P49748     VAR_048176  p.Pro65Leu     Polymorphism  rs28934585  -
ACAN      P16112     VAR_056152  p.Asp102Glu    Polymorphism  rs16942318  -
ACAN      P16112     VAR_056153  p.Arg275Gln    Polymorphism  rs34949187  -
ACAN      P16112     VAR_056154  p.Pro1943Leu   Polymorphism  rs35061438  -
ACAN      P16112     VAR_056155  p.Ser2005Arg   Polymorphism  rs34153007  -
ACAN      P16112     VAR_063053  p.Asp2266Asn   Disease       -           Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]
ACAN      P16112     VAR_063765  p.Val2303Met   Disease       -           Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]
ACAP1     Q15027     VAR_036178  p.Lys114Arg    Unclassified  -           A breast cancer sample
ACAP1     Q15027     VAR_036179  p.Arg129Gln    Unclassified  -           A colorectal cancer sample
ACAP1     Q15027     VAR_048328  p.Arg68Cys     Polymorphism  rs35933585  -
ACAP1     Q15027     VAR_048329  p.Arg533Trp    Polymorphism  rs35019942  -
ACAT1     P24752     VAR_007496  p.Ala5Pro      Polymorphism  rs3741056   -
ACAT1     P24752     VAR_007498  p.Asn93Ser     Disease       -           3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007499  p.Gly152Ala    Disease       -           3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007500  p.Asn158Asp    Disease       -           3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007501  p.Gly183Arg    Disease       -           3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007502  p.Thr297Met    Disease       -           3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007503  p.Ala301Pro    Disease       -           3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007504  p.Ile312Thr    Disease       -           3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007505  p.Ala333Pro    Disease       -           3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007506  p.Gly379Val    Disease       -           3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1     P24752     VAR_007507  p.Ala380Thr    Disease       -           3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT2     Q9BWD1     VAR_019686  p.Lys211Arg    Polymorphism  rs25683     -
ACBD3     Q9H3P7     VAR_019615  p.Glu187Asp    Polymorphism  rs2306120   -
ACBD4     Q8NC06     VAR_055478  p.Pro118Leu    Polymorphism  rs901754    -
ACBD4     Q8NC06     VAR_059109  p.Arg242Gly    Polymorphism  rs16939879  -
ACBD5     Q5T8D3     VAR_032301  p.Thr472Met    Polymorphism  rs7918793   -
ACCSL     Q4AC99     VAR_060626  p.Cys529Arg    Polymorphism  rs2074051   -
ACCS      Q96QU6     VAR_038685  p.Gly221Glu    Unclassified  rs35514614  A breast cancer sample
ACCS      Q96QU6     VAR_038686  p.Ser393Leu    Unclassified  -           A breast cancer sample
ACCS      Q96QU6     VAR_038687  p.Pro421Leu    Polymorphism  rs3107275   -
ACCS      Q96QU6     VAR_048227  p.Asp59Asn     Polymorphism  rs33952257  -
ACCS      Q96QU6     VAR_048228  p.Asp134Glu    Polymorphism  rs2018795   -
ACD       Q96AP0     VAR_060224  p.Thr301Met    Polymorphism  rs72547495  -
ACD       Q96AP0     VAR_060225  p.Val518Ala    Polymorphism  rs6979      -
ACE2      Q9BYF1     VAR_023082  p.Lys26Arg     Polymorphism  rs4646116   -
ACE2      Q9BYF1     VAR_023083  p.Asn638Ser    Polymorphism  rs183135788 -
ACE       P12821     VAR_011707  p.Ala261Ser    Polymorphism  rs4303      -
ACE       P12821     VAR_011708  p.Arg561Trp    Polymorphism  rs4314      -
ACE       P12821     VAR_011709  p.Arg1286Ser   Polymorphism  rs4364      -
ACE       P12821     VAR_014189  p.Ile1018Thr   Polymorphism  rs4976      -
ACE       P12821     VAR_014190  p.Phe1051Val   Polymorphism  rs4977      -
ACE       P12821     VAR_014191  p.Arg1279Gln   Polymorphism  rs4980      -
ACE       P12821     VAR_014192  p.Gln1296Pro   Polymorphism  rs4981      -
ACE       P12821     VAR_020053  p.Asp592Gly    Polymorphism  rs12709426  -
ACE       P12821     VAR_023430  p.Tyr244Cys    Polymorphism  rs3730025   -
ACE       P12821     VAR_023431  p.Pro351Leu    Polymorphism  rs2229839   -
ACE       P12821     VAR_023432  p.Thr916Met    Polymorphism  rs3730043   -
ACE       P12821     VAR_023433  p.Thr1187Met   Polymorphism  rs12709442  -
ACE       P12821     VAR_023434  p.Pro1228Leu   Unclassified  -           -
ACE       P12821     VAR_029139  p.Ala154Thr    Polymorphism  rs13306087  -
ACE       P12821     VAR_029140  p.Ala183Thr    Polymorphism  rs12720754  -
ACE       P12821     VAR_029141  p.Arg379Gln    Polymorphism  rs13306085  -
ACE       P12821     VAR_029142  p.Val524Ala    Polymorphism  rs12720746  -
ACE       P12821     VAR_034602  p.Met828Thr    Polymorphism  rs13306091  -
ACE       P12821     VAR_035434  p.Gly354Arg    Polymorphism  rs56394458  -
ACE       P12821     VAR_054000  p.Arg260Cys    Polymorphism  rs4302      -
ACE       P12821     VAR_054001  p.Arg260Leu    Polymorphism  rs4303      -
ACER2     Q5QJU3     VAR_027150  p.Ala134Val    Polymorphism  rs10964136  -
ACHE      P22303     VAR_002359  p.His353Asn    Polymorphism  rs1799805   -
ACHE      P22303     VAR_011934  p.Val333Glu    Polymorphism  rs8286      -
ACHE      P22303     VAR_021325  p.Arg34Gln     Polymorphism  rs17881553  -
ACHE      P22303     VAR_021326  p.Pro135Ala    Polymorphism  rs17885778  -
ACIN1     Q9UKV3     VAR_022031  p.Ile311Met    Polymorphism  rs3811182   -
ACIN1     Q9UKV3     VAR_022032  p.Ser467Pro    Polymorphism  rs1885097   -
ACIN1     Q9UKV3     VAR_022033  p.Ser478Phe    Polymorphism  rs3751501   -
ACIN1     Q9UKV3     VAR_035777  p.Arg1160Gln   Unclassified  -           A colorectal cancer sample
ACIN1     Q9UKV3     VAR_050632  p.Arg257Lys    Polymorphism  rs11555803  -
ACIN1     Q9UKV3     VAR_061547  p.Ala447Pro    Polymorphism  rs941719    -
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  -           -
ACO2      Q99798     VAR_033297  p.Ala768Ser    Polymorphism  rs1804785   -
ACO2      Q99798     VAR_036572  p.Thr697Asn    Unclassified  -           A breast cancer sample
ACO2      Q99798     VAR_067543  p.Ser112Arg    Disease       -           Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]
ACOT11    Q8WXI4     VAR_022119  p.Pro165Leu    Polymorphism  rs2304306   -
ACOT11    Q8WXI4     VAR_022120  p.Gly202Asp    Polymorphism  rs1702003   -
ACOT11    Q8WXI4     VAR_022121  p.Met212Ile    Polymorphism  rs2304305   -
ACOT11    Q8WXI4     VAR_048190  p.Arg11Trp     Polymorphism  rs34630746  -
ACOT11    Q8WXI4     VAR_048191  p.Arg536His    Polymorphism  rs12403630  -
ACOT12    Q8WYK0     VAR_048192  p.Val230Ile    Polymorphism  rs34607174  -
ACOT12    Q8WYK0     VAR_048193  p.Ala403Thr    Polymorphism  rs10371     -
ACOT12    Q8WYK0     VAR_064691  p.Leu190His    Unclassified  -           -
ACOT1     Q86TX2     VAR_059830  p.Arg266His    Polymorphism  rs1049568   -
ACOT2     P49753     VAR_016136  p.His475Arg    Polymorphism  rs7494      -
ACOT2     P49753     VAR_057271  p.Arg16Ser     Polymorphism  rs11545741  -
ACOT4     Q8N9L9     VAR_052300  p.Arg57Cys     Polymorphism  rs3742819   -
ACOT4     Q8N9L9     VAR_052301  p.Ala187Asp    Polymorphism  rs35724886  -
ACOT6     Q3I5F7     VAR_052302  p.Glu166Lys    Polymorphism  rs17782052  -
ACOT9     Q9Y305     VAR_062668  p.Asn305His    Unclassified  -           A pancreatic ductal adenocarcinoma sample
ACOX1     Q15067     VAR_021529  p.Ile312Met    Polymorphism  rs1135640   -
ACOX1     Q15067     VAR_025789  p.Gly178Cys    Disease       -           Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_025790  p.Met278Val    Disease       -           Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_030619  p.Thr153Ile    Polymorphism  rs17855420  -
ACOX1     Q15067     VAR_048182  p.Gly101Ser    Polymorphism  rs3744032   -
ACOX1     Q15067     VAR_067041  p.Ser184Leu    Disease       -           Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_067042  p.Gly231Val    Disease       -           Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_067043  p.Gln309Arg    Disease       -           Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1     Q15067     VAR_067044  p.Ser310Pro    Disease       -           Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX3     O15254     VAR_030802  p.Glu34Ala     Polymorphism  rs12513296  -
ACOX3     O15254     VAR_030803  p.Asp497Asn    Polymorphism  rs13434465  -
ACOXL     Q9NUZ1     VAR_035164  p.Thr255Met    Polymorphism  rs1554005   -
ACOXL     Q9NUZ1     VAR_035165  p.Pro535Leu    Polymorphism  rs17041850  -
ACP1      P24666     VAR_006171  p.Gln106Arg    Polymorphism  rs7576247   -
ACP1      P24666     VAR_050526  p.Lys7Asn      Polymorphism  rs11691572  -
ACP1      P24666     VAR_050527  p.Ser137Phe    Polymorphism  rs35569198  -
ACP2      P11117     VAR_027801  p.Arg29Gln     Polymorphism  rs2167079   -
ACP2      P11117     VAR_034394  p.Ser320Phe    Polymorphism  rs34425282  -
ACP2      P11117     VAR_050519  p.Val402Ile    Polymorphism  rs4647764   -
ACP5      P13686     VAR_020602  p.Val148Met    Polymorphism  rs2305799   -
ACP5      P13686     VAR_020603  p.Val200Met    Polymorphism  rs2229531   -
ACP5      P13686     VAR_029288  p.Val221Ile    Polymorphism  rs2229532   -
ACP5      P13686     VAR_065920  p.Lys52Met     Disease       -           Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065921  p.Thr89Ile     Disease       -           Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065922  p.Gly109Arg    Disease       -           Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065923  p.Leu201Pro    Disease       -           Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065924  p.Gly215Arg    Disease       -           Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065925  p.Asp241Asn    Disease       -           Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065926  p.Asn262His    Disease       -           Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP5      P13686     VAR_065927  p.Met264Lys    Disease       -           Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]
ACP6      Q9NPH0     VAR_022678  p.Val316Met    Polymorphism  rs6593795   -
ACPP      P15309     VAR_047960  p.Ser15Asn     Polymorphism  rs17850347  -
ACPP      P15309     VAR_047961  p.Phe124Val    Polymorphism  rs17856254  -
ACPP      P15309     VAR_047962  p.Trp226Arg    Polymorphism  rs17856253  -
ACPP      P15309     VAR_047963  p.Tyr330His    Polymorphism  rs17851392  -
ACPP      P15309     VAR_047964  p.Val360Ala    Polymorphism  rs17850198  -
ACRBP     Q8NEB7     VAR_050633  p.Thr336Ala    Polymorphism  rs3741923   -
ACRC      Q96QF7     VAR_038520  p.Thr662Ile    Polymorphism  rs2280962   -
ACRC      Q96QF7     VAR_050634  p.Arg471His    Polymorphism  rs10217999  -
ACR       P10323     VAR_011650  p.Leu120Val    Polymorphism  rs1064734   -
ACR       P10323     VAR_011651  p.Phe166Leu    Polymorphism  rs1064735   -
ACRV1     P26436     VAR_050680  p.Gly126Arg    Polymorphism  rs34788353  -
ACSBG1    Q96GR2     VAR_038314  p.Glu194Val    Polymorphism  rs12899901  -
ACSBG1    Q96GR2     VAR_038315  p.Met633Val    Polymorphism  rs2304824   -
ACSBG1    Q96GR2     VAR_038316  p.Ala673Val    Polymorphism  rs11072735  -
ACSBG2    Q5FVE4     VAR_038317  p.Val143Ala    Polymorphism  rs4807840   -
ACSBG2    Q5FVE4     VAR_038318  p.Lys152Arg    Polymorphism  rs33937754  -
ACSBG2    Q5FVE4     VAR_038319  p.Gly584Asp    Polymorphism  rs17851959  -
ACSBG2    Q5FVE4     VAR_038320  p.Gly586Asp    Polymorphism  rs17851960  -
ACSBG2    Q5FVE4     VAR_038321  p.Pro601Arg    Polymorphism  rs35609668  -
ACSBG2    Q5FVE4     VAR_038322  p.Arg624Lys    Polymorphism  rs17856650  -
ACSBG2    Q5FVE4     VAR_038323  p.Glu626Gln    Polymorphism  rs17856651  -
ACSBG2    Q5FVE4     VAR_038324  p.Arg650Ser    Polymorphism  rs35605352  -
ACSF2     Q96CM8     VAR_038304  p.Gly75Val     Polymorphism  rs17856448  -
ACSF2     Q96CM8     VAR_038305  p.Val316Met    Polymorphism  rs3744523   -
ACSF3     Q4G176     VAR_038306  p.Leu2Pro      Polymorphism  rs7188200   -
ACSF3     Q4G176     VAR_038307  p.Ala17Pro     Polymorphism  rs11547019  -
ACSF3     Q4G176     VAR_038308  p.Val372Met    Polymorphism  rs3743979   -
ACSF3     Q4G176     VAR_066504  p.Met198Arg    Disease       -           Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066505  p.Pro243Leu    Disease       rs140986055 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066506  p.Thr358Ile    Disease       -           Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066507  p.Glu359Lys    Disease       rs150487794 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066508  p.Lys462Thr    Disease       -           Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066510  p.Arg471Gln    Disease       -           Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066511  p.Arg471Trp    Disease       rs138680796 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066512  p.Gly480Ser    Disease       -           Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSF3     Q4G176     VAR_066513  p.Arg558Trp    Disease       rs141090143 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
ACSL3     O95573     VAR_026716  p.Phe551Ser    Polymorphism  rs1046032   -
ACSL4     O60488     VAR_013180  p.Arg570Ser    Disease       -           Mental retardation, X-linked 63 (MRX63) [MIM:300387]
ACSL4     O60488     VAR_036376  p.Arg133Cys    Unclassified  -           A colorectal cancer sample
ACSL5     Q9ULC5     VAR_022117  p.Met182Val    Polymorphism  rs3736946   -
ACSL5     Q9ULC5     VAR_036377  p.Lys388Arg    Unclassified  -           A colorectal cancer sample
ACSL5     Q9ULC5     VAR_036378  p.Gly466Asp    Unclassified  -           A colorectal cancer sample
ACSL5     Q9ULC5     VAR_048240  p.Thr486Ala    Polymorphism  rs12254915  -
ACSM1     Q08AH1     VAR_035245  p.Ile479Val    Polymorphism  rs8056709   -
ACSM1     Q08AH1     VAR_035246  p.Ile515Thr    Polymorphism  rs16970453  -
ACSM1     Q08AH1     VAR_048238  p.Ile272Met    Polymorphism  rs16970511  -
ACSM2A    Q08AH3     VAR_035247  p.Ser513Leu    Polymorphism  rs1133607   -
ACSM2A    Q08AH3     VAR_035248  p.Ala561Thr    Polymorphism  rs1054977   -
ACSM2A    Q08AH3     VAR_058692  p.Val335Leu    Polymorphism  rs4643305   -
ACSM2A    Q08AH3     VAR_058693  p.Thr336Ala    Polymorphism  rs5002299   -
ACSM2A    Q08AH3     VAR_058694  p.Val337Gly    Polymorphism  rs4586421   -
ACSM3     Q53FZ2     VAR_035249  p.Leu100Pro    Polymorphism  rs5713      -
ACSM3     Q53FZ2     VAR_035250  p.Pro308Thr    Polymorphism  rs7196188   -
ACSM3     Q53FZ2     VAR_035251  p.Lys367Asn    Polymorphism  rs5716      -
ACSM3     Q53FZ2     VAR_048239  p.Asp270His    Polymorphism  rs13306603  -
ACSM4     P0C7M7     VAR_061010  p.Arg481His    Polymorphism  rs61584783  -
ACSM5     Q6NUN0     VAR_035252  p.Gln159His    Polymorphism  -           -
ACSM5     Q6NUN0     VAR_035253  p.Pro352Arg    Polymorphism  rs8062344   -
ACSM5     Q6NUN0     VAR_035254  p.His360Arg    Polymorphism  rs12931877  -
ACSM5     Q6NUN0     VAR_035255  p.Thr533Met    Polymorphism  rs56308819  -
ACSM5     Q6NUN0     VAR_055495  p.Arg65Gln     Polymorphism  rs9928053   -
ACSM5     Q6NUN0     VAR_055496  p.Glu182Lys    Polymorphism  rs7192210   -
ACSM5     Q6NUN0     VAR_061011  p.Met217Val    Polymorphism  rs59025904  -
ACSM6     Q6P461     VAR_043606  p.Lys227Arg    Polymorphism  rs7090248   -
ACSM6     Q6P461     VAR_063090  p.Glu19Gly     Polymorphism  rs591157    -
ACSM6     Q6P461     VAR_063091  p.Cys40Ser     Polymorphism  rs11188225  -
ACSS1     Q9NUB1     VAR_048184  p.Val488Met    Polymorphism  rs6050249   -
ACTA1     P68133     VAR_011680  p.Gly17Arg     Disease       -           Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
ACTA1     P68133     VAR_011681  p.Leu96Pro     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011682  p.Asn117Ser    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011683  p.Ile138Met    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011684  p.Val165Leu    Disease       -           Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
ACTA1     P68133     VAR_011685  p.Glu261Val    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011686  p.Gly270Cys    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_011687  p.Val372Phe    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_013470  p.Met134Val    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_013471  p.Met271Arg    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015579  p.His42Tyr     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015580  p.Gly184Asp    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015581  p.Arg185Gly    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015582  p.Arg185Cys    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015583  p.Arg258His    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015584  p.Gln265Leu    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015585  p.Asn282Lys    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015586  p.Asp288Gly    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_015587  p.Ile359Leu    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_032917  p.Leu223Pro    Disease       -           Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1     P68133     VAR_032918  p.Asp294Val    Disease       -           Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1     P68133     VAR_032919  p.Pro334Ser    Disease       -           Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1     P68133     VAR_062424  p.Asp3Tyr      Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062425  p.Asp27Asn     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062426  p.Val37Leu     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062427  p.Pro40Leu     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062428  p.Gln43Arg     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062429  p.Gly44Val     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062430  p.Val45Phe     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062431  p.Ile66Asn     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062432  p.Thr68Ile     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062433  p.Glu74Lys     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062434  p.His75Leu     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062435  p.His75Arg     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062436  p.Ile77Leu     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062437  p.Thr79Ala     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062438  p.Glu85Lys     Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062439  p.Ala116Thr    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062440  p.Asn117Thr    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062441  p.Arg118His    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062442  p.Val136Ala    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062443  p.Ala140Pro    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062444  p.Leu142Pro    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062445  p.Gly148Asp    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062446  p.Thr150Asn    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062447  p.Asp156Asn    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062448  p.Val165Met    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062449  p.Ala172Gly    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062450  p.Asp181Gly    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062451  p.Asp181His    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062452  p.Asp181Asn    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062453  p.Arg185Asp    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062454  p.Arg185Ser    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062455  p.Arg198Leu    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062456  p.Gly199Ser    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062457  p.Glu226Gly    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062458  p.Glu226Gln    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062459  p.Asn227Val    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062460  p.Met229Ile    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062461  p.Met229Thr    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062462  p.Met229Val    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062463  p.Glu243Lys    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062464  p.Gln248Lys    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062465  p.Gln248Arg    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062466  p.Gly253Asp    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062467  p.Arg258Leu    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062468  p.Gly270Asp    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062469  p.Gly270Arg    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062470  p.Ala274Glu    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062471  p.Tyr281His    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062472  p.Met285Lys    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062473  p.Glu336Ala    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062474  p.Lys338Glu    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062475  p.Lys338Ile    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062476  p.Ser350Leu    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062477  p.Arg374Ser    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062478  p.Lys375Glu    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA1     P68133     VAR_062479  p.Lys375Gln    Disease       -           Nemaline myopathy 3 (NEM3) [MIM:161800]
ACTA2     P62736     VAR_011944  p.Thr196Ser    Polymorphism  rs1803028   -
ACTA2     P62736     VAR_011945  p.Thr320Ala    Polymorphism  rs1803027   -
ACTA2     P62736     VAR_011946  p.His373Pro    Polymorphism  rs1062398   -
ACTA2     P62736     VAR_045915  p.Asn117Thr    Disease       -           Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045916  p.Arg118Gln    Disease       -           Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045917  p.Tyr135His    Disease       -           Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045918  p.Arg149Cys    Disease       -           Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045919  p.Val154Ala    Disease       -           Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045920  p.Arg258Cys    Disease       -           Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_045921  p.Arg258His    Disease       -           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       -           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       -           Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_062580  p.Arg212Gln    Disease       -           Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_062581  p.Thr326Asn    Disease       -           Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
ACTA2     P62736     VAR_064516  p.Arg179His    Disease       -           Moyamoya disease 5 (MYMY5) [MIM:614042]
ACTA2     P62736     VAR_064516  p.Arg179His    Disease       -           Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]
ACTB      P60709     VAR_030026  p.Arg183Trp    Disease       -           Dystonia, juvenile-onset (DYTJ) [MIM:607371]
ACTB      P60709     VAR_048185  p.Pro243Leu    Polymorphism  rs11546899  -
ACTB      P60709     VAR_067810  p.Asn12Asp     Disease       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       -           Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_012858  p.Pro166Ala    Disease       -           Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_012859  p.Ala297Ser    Disease       -           Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_012860  p.Arg314His    Disease       -           Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]
ACTC1     P68032     VAR_012861  p.Ala333Pro    Disease       -           Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_012862  p.Glu363Gly    Disease       -           Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]
ACTC1     P68032     VAR_045924  p.His90Tyr     Disease       -           Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_045925  p.Arg97Cys     Disease       -           Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_046502  p.Met125Val    Disease       -           Atrial septal defect 5 (ASD5) [MIM:612794]
ACTC1     P68032     VAR_046503  p.Tyr168Cys    Disease       -           Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTC1     P68032     VAR_046504  p.Met307Leu    Disease       -           Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
ACTG1     P63261     VAR_032434  p.Thr89Ile     Disease       rs28999111  Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032435  p.Lys118Met    Disease       -           Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032436  p.Pro264Leu    Disease       -           Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032437  p.Thr278Ile    Disease       rs28999112  Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032438  p.Pro332Ala    Disease       -           Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_032439  p.Val370Ala    Disease       -           Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
ACTG1     P63261     VAR_048186  p.Thr160Ile    Polymorphism  rs11549206  -
ACTG1     P63261     VAR_055482  p.Pro243Leu    Polymorphism  rs11546899  -
ACTG1     P63261     VAR_067814  p.Thr120Ile    Disease       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]
ACTG2     P63267     VAR_071279  p.Arg40Cys     Disease       -           Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071280  p.Arg40His     Disease       -           Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071281  p.Met45Thr     Disease       -           Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071282  p.Arg63Gly     Disease       -           Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071283  p.Pro110Leu    Disease       -           Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071284  p.Tyr134Asn    Disease       -           Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071285  p.Arg148Ser    Disease       -           Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071286  p.Arg178Cys    Disease       -           Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071287  p.Arg178His    Disease       -           Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071288  p.Arg178Leu    Disease       -           Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071289  p.Gly198Asp    Disease       -           Visceral myopathy (VSCM) [MIM:155310]
ACTG2     P63267     VAR_071290  p.Arg257Cys    Disease       -           Visceral myopathy (VSCM) [MIM:155310]
ACTL7A    Q9Y615     VAR_024362  p.Val340Met    Polymorphism  rs7872077   -
ACTL7A    Q9Y615     VAR_031425  p.Arg45Cys     Polymorphism  -           -
ACTL7A    Q9Y615     VAR_033460  p.Ala161Pro    Polymorphism  rs35995497  -
ACTL7A    Q9Y615     VAR_060998  p.Leu343Val    Polymorphism  rs56031956  -
ACTL8     Q9H568     VAR_032079  p.Ala3Ser      Polymorphism  rs694214    -
ACTL8     Q9H568     VAR_032080  p.Arg245Cys    Polymorphism  rs3795322   -
ACTL9     Q8TC94     VAR_043000  p.Phe37Ser     Polymorphism  rs2340550   -
ACTL9     Q8TC94     VAR_043001  p.Ala42Asp     Unclassified  -           A colorectal cancer sample
ACTL9     Q8TC94     VAR_043002  p.Val51Ala     Polymorphism  rs10410943  -
ACTL9     Q8TC94     VAR_043003  p.His227Asn    Polymorphism  rs4804079   -
ACTL9     Q8TC94     VAR_043004  p.Ala332Thr    Unclassified  -           A colorectal cancer sample
ACTN1     P12814     VAR_053883  p.Asn707Thr    Polymorphism  rs7157661   -
ACTN1     P12814     VAR_053884  p.Thr868Ser    Polymorphism  rs11557769  -
ACTN1     P12814     VAR_069910  p.Gln32Lys     Disease       -           Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069911  p.Arg46Gln     Disease       -           Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069912  p.Val105Ile    Disease       -           Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069913  p.Arg197Trp    Polymorphism  -           -
ACTN1     P12814     VAR_069914  p.Glu225Lys    Disease       -           Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069915  p.Arg738Trp    Disease       -           Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193]
ACTN1     P12814     VAR_069916  p.Arg752Gln    Disease       -           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 (CMD1AA) [MIM:612158]
ACTN3     Q08043     VAR_012705  p.Arg523Gln    Polymorphism  rs1671064   -
ACTN3     Q08043     VAR_033488  p.Glu635Ala    Polymorphism  rs2229456   -
ACTN3     Q08043     VAR_047528  p.Cys628Arg    Polymorphism  rs618838    -
ACTN3     Q08043     VAR_047529  p.Gln776Arg    Polymorphism  rs540874    -
ACTN4     O43707     VAR_010378  p.Lys255Glu    Disease       rs28939374  Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_010379  p.Thr259Ile    Disease       rs28939375  Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4     O43707     VAR_010380  p.Ser262Pro    Disease       rs28939376  Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTR1B    P42025     VAR_025315  p.Val93Ala     Polymorphism  rs11547231  -
ACTR1B    P42025     VAR_048187  p.Ala143Val    Polymorphism  rs11692435  -
ACTR3B    Q9P1U1     VAR_048188  p.Arg250Gln    Polymorphism  rs2260545   -
ACTR5     Q9H9F9     VAR_027158  p.Arg298Leu    Polymorphism  rs17853829  -
ACTR5     Q9H9F9     VAR_027159  p.Ile483Val    Polymorphism  rs2245231   -
ACTR5     Q9H9F9     VAR_027160  p.Pro580Leu    Polymorphism  rs3752289   -
ACTR5     Q9H9F9     VAR_048189  p.Ile461Leu    Polymorphism  rs35805905  -
ACTR8     Q9H981     VAR_028033  p.Thr56Ile     Polymorphism  rs3733082   -
ACTRT2    Q8TDY3     VAR_020416  p.Gly247Arg    Polymorphism  rs3795263   -
ACTRT3    Q9BYD9     VAR_055483  p.Glu234Lys    Polymorphism  rs2068178   -
ACVR1B    P36896     VAR_011716  p.Leu408Val    Polymorphism  rs928906    -
ACVR1B    P36896     VAR_041406  p.Phe146Leu    Polymorphism  rs34488074  -
ACVR1C    Q8NER5     VAR_041407  p.Ile195Thr    Polymorphism  rs56188432  -
ACVR1C    Q8NER5     VAR_041408  p.Gly216Arg    Polymorphism  -           -
ACVR1C    Q8NER5     VAR_041409  p.Trp267Arg    Unclassified  -           A lung squamous cell carcinoma sample
ACVR1C    Q8NER5     VAR_041410  p.Ile355Val    Polymorphism  rs35500979  -
ACVR1C    Q8NER5     VAR_041411  p.Ile482Val    Polymorphism  rs7594480   -
ACVR1     Q04771     VAR_028444  p.Arg206His    Disease       -           Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_041392  p.Ala15Gly     Polymorphism  rs13406336  -
ACVR1     Q04771     VAR_041393  p.Ser41Phe     Polymorphism  rs55957214  -
ACVR1     Q04771     VAR_041394  p.His47Gln     Polymorphism  rs34056189  -
ACVR1     Q04771     VAR_041395  p.Pro115Ser    Unclassified  -           A melanoma sample
ACVR1     Q04771     VAR_058419  p.Arg202Ile    Disease       -           Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058420  p.Gln207Glu    Disease       -           Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058421  p.Gly328Glu    Disease       -           Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058422  p.Gly328Arg    Disease       -           Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058423  p.Gly328Trp    Disease       -           Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058424  p.Gly356Asp    Disease       -           Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1     Q04771     VAR_058425  p.Arg375Pro    Disease       -           Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR2A    P27037     VAR_032809  p.Ser258Arg    Polymorphism  rs34917571  -
ACVR2A    P27037     VAR_032810  p.Asp306Asn    Unclassified  -           A gastric adenocarcinoma sample
ACVR2A    P27037     VAR_064692  p.Ala367Thr    Unclassified  -           -
ACVR2B    Q13705     VAR_013281  p.Arg40His     Disease       rs121434437 Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]
ACVR2B    Q13705     VAR_013282  p.Val494Ile    Disease       -           Heterotaxy, visceral, 4, autosomal (HTX4) [MIM:613751]
ACVR2B    Q13705     VAR_041396  p.Pro176Arg    Polymorphism  rs35882617  -
ACVR2B    Q13705     VAR_050594  p.Glu459Asp    Polymorphism  rs500611    -
ACVRL1    P37023     VAR_006204  p.Trp50Cys     Disease       -           Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006205  p.Cys51Tyr     Disease       -           Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006206  p.Arg67Gln     Disease       -           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       -           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       rs28936398  Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_006214  p.Pro424Thr    Disease       -           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       -           Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026787  p.Asp179Ala    Disease       -           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       -           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       -           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       -           Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026801  p.Met376Val    Disease       -           Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026802  p.Pro378Leu    Disease       -           Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026803  p.Glu379Lys    Disease       -           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       rs28936400  Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026806  p.Trp399Ser    Disease       rs28936402  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       -           Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026809  p.Arg411Trp    Disease       -           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       -           Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_026816  p.Lys487Thr    Disease       -           Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070308  p.Pro30Ser     Unclassified  -           -
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       -           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       -           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       -           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       -           Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
ACVRL1    P37023     VAR_070344  p.Lys486Glu    Unclassified  -           -
ACY1      Q03154     VAR_020452  p.Arg386Cys    Disease       rs2229152   Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_026104  p.Glu233Asp    Disease       -           Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_026105  p.Arg353Cys    Disease       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       -           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       -           Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1      Q03154     VAR_065563  p.Arg378Trp    Disease       -           Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY3      Q96HD9     VAR_048341  p.Arg8Gln      Polymorphism  rs948445    -
ACY3      Q96HD9     VAR_048342  p.Val281Met    Polymorphism  rs2290959   -
ADAD2     Q8NCV1     VAR_036976  p.Gly44Glu     Polymorphism  rs8044695   -
ADAD2     Q8NCV1     VAR_055650  p.Gly235Arg    Polymorphism  rs11149631  -
ADAM10    O14672     VAR_066309  p.His176Tyr    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM10    O14672     VAR_070907  p.Pro139Ser    Disease       -           Reticulate acropigmentation of Kitamura (RAK) [MIM:615537]
ADAM10    O14672     VAR_070908  p.Gln170His    Disease       -           Alzheimer disease 18 (AD18) [MIM:615590]
ADAM10    O14672     VAR_070909  p.Arg181Gly    Disease       -           Alzheimer disease 18 (AD18) [MIM:615590]
ADAM10    O14672     VAR_070910  p.Cys524Tyr    Disease       -           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  -           A breast cancer sample
ADAM12    O43184     VAR_036145  p.Leu792Phe    Unclassified  -           A breast cancer sample
ADAM12    O43184     VAR_038542  p.Gly48Arg     Polymorphism  rs3740199   -
ADAM12    O43184     VAR_066310  p.Gly712Glu    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM12    O43184     VAR_066311  p.Pro893Ser    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM15    Q13444     VAR_054339  p.Pro502Gln    Polymorphism  rs17093828  -
ADAM15    Q13444     VAR_060315  p.Lys191Thr    Polymorphism  rs6427128   -
ADAM15    Q13444     VAR_060316  p.Pro294His    Polymorphism  rs2306122   -
ADAM15    Q13444     VAR_068970  p.Glu216Lys    Polymorphism  rs115753757 -
ADAM17    P78536     VAR_051586  p.Lys162Glu    Polymorphism  rs34431503  -
ADAM17    P78536     VAR_051587  p.Arg202Gly    Polymorphism  rs2230818   -
ADAM18    Q9Y3Q7     VAR_051588  p.Val212Phe    Polymorphism  rs10093794  -
ADAM18    Q9Y3Q7     VAR_066312  p.Pro170Ser    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM18    Q9Y3Q7     VAR_066313  p.Val284Gly    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM18    Q9Y3Q7     VAR_066314  p.Met344Ile    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM18    Q9Y3Q7     VAR_066315  p.Met362Lys    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM18    Q9Y3Q7     VAR_066316  p.Ser536Leu    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM19    Q9H013     VAR_036146  p.Arg133Gln    Unclassified  -           A colorectal cancer sample
ADAM19    Q9H013     VAR_036147  p.Ala298Thr    Unclassified  -           A colorectal cancer sample
ADAM19    Q9H013     VAR_057066  p.Gly4Ser      Polymorphism  rs11465228  -
ADAM19    Q9H013     VAR_062670  p.His609Gln    Unclassified  -           A pancreatic ductal adenocarcinoma sample
ADAM20    O43506     VAR_047311  p.Phe19Leu     Polymorphism  rs1059166   -
ADAM22    Q9P0K1     VAR_020057  p.Pro81Arg     Polymorphism  rs2279542   -
ADAM22    Q9P0K1     VAR_051589  p.His119Tyr    Polymorphism  rs4728730   -
ADAM22    Q9P0K1     VAR_051590  p.Val207Ile    Polymorphism  rs17255978  -
ADAM28    Q9UKQ2     VAR_024596  p.Val765Met    Polymorphism  rs7814768   -
ADAM28    Q9UKQ2     VAR_057067  p.Arg219Met    Polymorphism  rs9314282   -
ADAM28    Q9UKQ2     VAR_057068  p.Glu226Asp    Polymorphism  rs17736699  -
ADAM28    Q9UKQ2     VAR_057069  p.Asn493Ser    Polymorphism  rs7001647   -
ADAM28    Q9UKQ2     VAR_057070  p.Thr593Lys    Polymorphism  rs36041430  -
ADAM28    Q9UKQ2     VAR_057071  p.Thr604Pro    Polymorphism  rs35617826  -
ADAM28    Q9UKQ2     VAR_057072  p.Met684Ile    Polymorphism  rs7829965   -
ADAM28    Q9UKQ2     VAR_066317  p.Gly65Glu     Unclassified  -           A cutaneous metastatic melanoma sample
ADAM28    Q9UKQ2     VAR_066318  p.Gly134Glu    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM28    Q9UKQ2     VAR_066319  p.Gly450Glu    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM28    Q9UKQ2     VAR_066320  p.Ser482Phe    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM28    Q9UKQ2     VAR_066321  p.Gly502Asp    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_036148  p.Pro31Leu     Unclassified  -           A colorectal cancer sample
ADAM29    Q9UKF5     VAR_036149  p.Val205Ile    Unclassified  -           A colorectal cancer sample
ADAM29    Q9UKF5     VAR_066322  p.Leu72Phe     Unclassified  -           A melanoma cell line
ADAM29    Q9UKF5     VAR_066323  p.Ile89Met     Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066324  p.Glu111Lys    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066325  p.Ser112Phe    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066326  p.Ser115Phe    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066327  p.Asp131Asn    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066328  p.Glu176Lys    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066329  p.Ser234Phe    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066330  p.Ile257Phe    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066331  p.Gly305Glu    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066332  p.Asp345Asn    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066333  p.Gly403Asp    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066334  p.Gly434Asp    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066335  p.Glu503Lys    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM29    Q9UKF5     VAR_066336  p.His533Tyr    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM2     Q99965     VAR_035217  p.Gly10Trp     Polymorphism  rs34800519  -
ADAM30    Q9UKF2     VAR_024597  p.Leu359Pro    Polymorphism  rs2641348   -
ADAM30    Q9UKF2     VAR_061738  p.Thr737Ala    Polymorphism  rs35273427  -
ADAM32    Q8TC27     VAR_051591  p.Thr467Ser    Polymorphism  rs7845771   -
ADAM32    Q8TC27     VAR_055241  p.Gln98Arg     Polymorphism  rs17856744  -
ADAM32    Q8TC27     VAR_055242  p.Ser160Gly    Polymorphism  rs17852343  -
ADAM32    Q8TC27     VAR_055243  p.Leu327Val    Polymorphism  rs9643859   -
ADAM32    Q8TC27     VAR_055244  p.Lys658Asn    Polymorphism  rs13277386  -
ADAM32    Q8TC27     VAR_061739  p.Asp778Glu    Polymorphism  rs28705715  -
ADAM33    Q9BZ11     VAR_021847  p.Met764Thr    Polymorphism  rs2280091   -
ADAM33    Q9BZ11     VAR_029143  p.Thr178Ala    Polymorphism  rs3918392   -
ADAM33    Q9BZ11     VAR_029144  p.Pro774Ser    Polymorphism  rs2280090   -
ADAM33    Q9BZ11     VAR_030512  p.Asn109Ser    Polymorphism  rs41467948  -
ADAM33    Q9BZ11     VAR_030513  p.Thr272Met    Polymorphism  rs41534847  -
ADAM33    Q9BZ11     VAR_030514  p.Val316Ile    Polymorphism  rs41459049  -
ADAM33    Q9BZ11     VAR_030515  p.Pro336Ser    Polymorphism  rs41483049  -
ADAM33    Q9BZ11     VAR_030516  p.Ala365Ser    Polymorphism  rs41419248  -
ADAM33    Q9BZ11     VAR_030517  p.Asp441Glu    Polymorphism  rs41382144  -
ADAM33    Q9BZ11     VAR_030518  p.Trp515Arg    Polymorphism  rs615436    -
ADAM33    Q9BZ11     VAR_030519  p.Leu612His    Polymorphism  rs41453444  -
ADAM33    Q9BZ11     VAR_030520  p.Val710Ile    Polymorphism  rs3918396   -
ADAM33    Q9BZ11     VAR_030521  p.Cys739Gly    Polymorphism  rs41434648  -
ADAM33    Q9BZ11     VAR_030522  p.Asp742Tyr    Polymorphism  rs41462450  -
ADAM33    Q9BZ11     VAR_066337  p.Ala305Val    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_046728  p.Glu25Gln     Polymorphism  rs34852692  -
ADAM7     Q9H2U9     VAR_046729  p.Ile205Val    Polymorphism  rs7829386   -
ADAM7     Q9H2U9     VAR_046730  p.Val244Met    Polymorphism  rs13255694  -
ADAM7     Q9H2U9     VAR_046731  p.Ile453Thr    Polymorphism  rs3736281   -
ADAM7     Q9H2U9     VAR_046732  p.Leu570Val    Polymorphism  rs2307044   -
ADAM7     Q9H2U9     VAR_046733  p.Asn638His    Polymorphism  rs13259668  -
ADAM7     Q9H2U9     VAR_046734  p.Leu735Pro    Polymorphism  rs6980829   -
ADAM7     Q9H2U9     VAR_066296  p.Pro14Ser     Unclassified  -           A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066297  p.Arg31Cys     Unclassified  -           A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066298  p.Pro36Ser     Unclassified  -           A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066299  p.His106Tyr    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066300  p.Leu173Pro    Unclassified  -           -
ADAM7     Q9H2U9     VAR_066301  p.Val180Ala    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066302  p.His243Tyr    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066303  p.Gly302Glu    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066304  p.Met359Ile    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066305  p.Gly533Glu    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066306  p.Phe593Leu    Unclassified  -           -
ADAM7     Q9H2U9     VAR_066307  p.Glu639Lys    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM7     Q9H2U9     VAR_066308  p.Ser703Asn    Unclassified  -           A cutaneous metastatic melanoma sample
ADAM8     P78325     VAR_059760  p.Gly101Arg    Polymorphism  rs11101675  -
ADAM8     P78325     VAR_061735  p.Arg189Trp    Polymorphism  rs45451297  -
ADAM8     P78325     VAR_061736  p.Arg433Cys    Polymorphism  rs12257830  -
ADAM8     P78325     VAR_061737  p.Ile775Thr    Polymorphism  rs3008319   -
ADAM8     P78325     VAR_069144  p.Trp35Arg     Polymorphism  rs2275725   -
ADAM8     P78325     VAR_069145  p.Phe657Leu    Polymorphism  rs2275720   -
ADAMDEC1  O15204     VAR_021848  p.Asn444Ser    Polymorphism  rs3765124   -
ADAMDEC1  O15204     VAR_024598  p.Met121Thr    Polymorphism  rs7007084   -
ADAMTS10  Q9H324     VAR_054439  p.Ala25Thr     Disease       -           Weill-Marchesani syndrome 1 (WMS1) [MIM:277600]
ADAMTS10  Q9H324     VAR_054440  p.Arg119Gln    Polymorphism  rs3814291   -
ADAMTS10  Q9H324     VAR_054441  p.Thr134Ser    Polymorphism  rs7255721   -
ADAMTS12  P58397     VAR_057074  p.Gln110Glu    Polymorphism  rs16891862  -
ADAMTS12  P58397     VAR_057075  p.Arg1000Gln   Polymorphism  rs13362345  -
ADAMTS12  P58397     VAR_058972  p.Thr1495Ile   Polymorphism  rs25754     -
ADAMTS12  P58397     VAR_059761  p.Trp1177Arg   Polymorphism  rs3813474   -
ADAMTS12  P58397     VAR_059762  p.Ser1591Pro   Polymorphism  rs16891281  -
ADAMTS13  Q76LX8     VAR_027109  p.Arg7Trp      Polymorphism  rs34024143  -
ADAMTS13  Q76LX8     VAR_027110  p.Val88Met     Disease       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   Unclassified  -           -
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  -           A colorectal cancer sample
ADAMTS15  Q8TE58     VAR_036151  p.Cys878Gly    Unclassified  -           A colorectal cancer sample
ADAMTS15  Q8TE58     VAR_051594  p.Asn623Ser    Polymorphism  rs11222114  -
ADAMTS16  Q8TE57     VAR_057076  p.Met110Val    Polymorphism  rs1863968   -
ADAMTS16  Q8TE57     VAR_057077  p.Ala486Thr    Polymorphism  rs16875054  -
ADAMTS16  Q8TE57     VAR_057078  p.Arg789Cys    Polymorphism  rs9313105   -
ADAMTS16  Q8TE57     VAR_057079  p.Arg859Leu    Polymorphism  rs16875122  -
ADAMTS16  Q8TE57     VAR_057080  p.Glu863Lys    Polymorphism  rs35394775  -
ADAMTS17  Q8TE56     VAR_057081  p.Ser216Leu    Polymorphism  rs7496668   -
ADAMTS17  Q8TE56     VAR_057082  p.Met482Thr    Polymorphism  rs28567966  -
ADAMTS17  Q8TE56     VAR_060317  p.Asn1094Ser   Polymorphism  rs2573652   -
ADAMTS17  Q8TE56     VAR_064041  p.Arg566Thr    Polymorphism  -           -
ADAMTS18  Q8TE60     VAR_036152  p.Arg382Lys    Unclassified  -           A colorectal cancer sample
ADAMTS18  Q8TE60     VAR_036153  p.Lys455Thr    Unclassified  -           A colorectal cancer sample
ADAMTS18  Q8TE60     VAR_057083  p.Leu769Ile    Polymorphism  rs9930984   -
ADAMTS18  Q8TE60     VAR_057084  p.Ala946Ser    Polymorphism  rs12935394  -
ADAMTS18  Q8TE60     VAR_057085  p.Ser1080Arg   Polymorphism  rs35478105  -
ADAMTS18  Q8TE60     VAR_057086  p.Ser1159Thr   Polymorphism  rs3743749   -
ADAMTS18  Q8TE60     VAR_060231  p.Tyr191His    Polymorphism  rs11643211  -
ADAMTS18  Q8TE60     VAR_060232  p.Leu626Ile    Polymorphism  rs11640912  -
ADAMTS18  Q8TE60     VAR_066554  p.Ser179Leu    Polymorphism  rs387906972 -
ADAMTS18  Q8TE60     VAR_070849  p.Leu202Pro    Disease       -           Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]
ADAMTS18  Q8TE60     VAR_070850  p.Cys577Trp    Disease       -           Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]
ADAMTS19  Q8TE59     VAR_024599  p.Tyr1089Phe   Polymorphism  rs11749126  -
ADAMTS19  Q8TE59     VAR_036154  p.Leu360Ile    Unclassified  -           A breast cancer sample
ADAMTS19  Q8TE59     VAR_057087  p.Glu582Gly    Polymorphism  rs10062501  -
ADAMTS1   Q9UHI8     VAR_030001  p.Ala227Pro    Polymorphism  rs428785    -
ADAMTS20  P59510     VAR_057088  p.Lys876Met    Polymorphism  rs7302446   -
ADAMTS20  P59510     VAR_057089  p.Arg1000His   Polymorphism  rs7297737   -
ADAMTS20  P59510     VAR_057090  p.Ser1273Phe   Polymorphism  rs7310011   -
ADAMTS2   O95450     VAR_020058  p.Val245Ile    Polymorphism  rs398829    -
ADAMTS2   O95450     VAR_020059  p.Pro1177Ser   Polymorphism  rs1054480   -
ADAMTS2   O95450     VAR_047927  p.Val74Met     Polymorphism  rs2271211   -
ADAMTS2   O95450     VAR_047928  p.Arg241His    Polymorphism  rs11750821  -
ADAMTS2   O95450     VAR_047929  p.Glu331Lys    Polymorphism  rs17667857  -
ADAMTS2   O95450     VAR_047930  p.Gly665Arg    Polymorphism  rs35372714  -
ADAMTS2   O95450     VAR_047931  p.Arg827Gln    Polymorphism  rs35445112  -
ADAMTS3   O15072     VAR_055012  p.Arg138Lys    Polymorphism  rs788908    -
ADAMTS3   O15072     VAR_055013  p.Ser1074Pro   Polymorphism  rs35864003  -
ADAMTS4   O75173     VAR_022450  p.Gln626Arg    Polymorphism  rs4233367   -
ADAMTS4   O75173     VAR_030636  p.Thr4Ile      Polymorphism  rs17855814  -
ADAMTS4   O75173     VAR_030637  p.Asp304Asn    Polymorphism  rs17855813  -
ADAMTS4   O75173     VAR_030638  p.Met369Val    Polymorphism  rs17855812  -
ADAMTS4   O75173     VAR_030639  p.Pro552Thr    Polymorphism  rs17855815  -
ADAMTS4   O75173     VAR_030640  p.Thr564Ala    Polymorphism  rs17855816  -
ADAMTS4   O75173     VAR_030641  p.Arg836Lys    Polymorphism  rs11807350  -
ADAMTS4   O75173     VAR_057073  p.Ala77Thr     Polymorphism  rs34448954  -
ADAMTS5   Q9UNA0     VAR_021849  p.Arg614His    Polymorphism  rs2830585   -
ADAMTS5   Q9UNA0     VAR_028199  p.Gly138Ala    Polymorphism  rs457947    -
ADAMTS5   Q9UNA0     VAR_028200  p.Leu692Pro    Polymorphism  rs226794    -
ADAMTS7   Q9UKP4     VAR_046112  p.Ser214Pro    Polymorphism  rs3825807   -
ADAMTS7   Q9UKP4     VAR_046113  p.Thr307Met    Polymorphism  rs2127898   -
ADAMTS7   Q9UKP4     VAR_046114  p.Thr1319Ala   Polymorphism  rs11630236  -
ADAMTS7   Q9UKP4     VAR_046115  p.Gly1414Ser   Polymorphism  rs2929155   -
ADAMTS7   Q9UKP4     VAR_046116  p.Gly1583Ala   Polymorphism  rs7495616   -
ADAMTS9   Q9P2N4     VAR_047081  p.Ser96Pro     Polymorphism  rs36115950  -
ADAMTS9   Q9P2N4     VAR_047082  p.Lys1579Glu   Polymorphism  rs17071010  -
ADAMTS9   Q9P2N4     VAR_047083  p.Asp1674Glu   Polymorphism  rs6787633   -
ADAMTS9   Q9P2N4     VAR_047084  p.Lys1740Arg   Polymorphism  rs17070967  -
ADAMTS9   Q9P2N4     VAR_047085  p.Glu1791Gln   Polymorphism  rs3796381   -
ADAMTS9   Q9P2N4     VAR_047086  p.Arg1933Gln   Polymorphism  rs17070905  -
ADAMTS9   Q9P2N4     VAR_051592  p.Ser96Thr     Polymorphism  rs36115950  -
ADAMTS9   Q9P2N4     VAR_051593  p.Lys1921Glu   Polymorphism  rs17070909  -
ADAMTSL1  Q8N6G6     VAR_017174  p.Ser242Asn    Polymorphism  rs776755    -
ADAMTSL2  Q86TH1     VAR_046011  p.Val364Ile    Polymorphism  rs35767802  -
ADAMTSL2  Q86TH1     VAR_054874  p.Arg113His    Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_054875  p.Glu114Lys    Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_054876  p.Pro147Leu    Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_054877  p.Gly811Arg    Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066543  p.Trp50Cys     Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066544  p.Arg72Gln     Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066545  p.Arg159Trp    Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066546  p.Ala165Thr    Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066547  p.Cys171Arg    Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066548  p.Arg221Cys    Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066549  p.Ala239Thr    Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066551  p.Arg593Cys    Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066552  p.Ser635Leu    Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL2  Q86TH1     VAR_066553  p.Pro906Leu    Disease       -           Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
ADAMTSL3  P82987     VAR_027478  p.His146Arg    Polymorphism  rs4483821   -
ADAMTSL3  P82987     VAR_027479  p.Leu290Val    Polymorphism  rs4144691   -
ADAMTSL3  P82987     VAR_027480  p.Val661Leu    Polymorphism  rs4842838   -
ADAMTSL3  P82987     VAR_027481  p.Arg855His    Polymorphism  rs2277848   -
ADAMTSL3  P82987     VAR_027482  p.Leu869Phe    Polymorphism  rs2277849   -
ADAMTSL3  P82987     VAR_027483  p.Thr1370Ala   Polymorphism  rs17158450  -
ADAMTSL3  P82987     VAR_027484  p.Met1558Thr   Polymorphism  rs7175910   -
ADAMTSL3  P82987     VAR_027485  p.Thr1660Ile   Polymorphism  rs950169    -
ADAMTSL3  P82987     VAR_027486  p.Arg1679His   Polymorphism  rs11857906  -
ADAMTSL3  P82987     VAR_035809  p.Val330Met    Unclassified  -           A colorectal cancer sample
ADAMTSL3  P82987     VAR_035810  p.Arg587His    Unclassified  -           A colorectal cancer sample
ADAMTSL3  P82987     VAR_035811  p.Arg855Cys    Unclassified  -           A colorectal cancer sample
ADAMTSL3  P82987     VAR_035812  p.Ala1315Glu   Unclassified  -           A colorectal cancer sample
ADAMTSL3  P82987     VAR_057365  p.Gly713Arg    Polymorphism  rs34047645  -
ADAMTSL4  Q6UY14     VAR_061918  p.Ala193Pro    Polymorphism  rs41317515  -
ADAMTSL4  Q6UY14     VAR_061919  p.Arg1028His   Polymorphism  rs56411234  -
ADA       P00813     VAR_002209  p.Asp8Asn      Polymorphism  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       rs121908720 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002217  p.Arg101Trp    Disease       rs28930969  Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002218  p.Arg101Gln    Disease       rs28930970  Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002219  p.Leu107Pro    Disease       rs121908739 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002220  p.Val129Met    Disease       rs121908731 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002221  p.Gly140Glu    Disease       rs121908732 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002222  p.Arg142Gln    Unclassified  rs61732239  A pancreatic ductal adenocarcinoma sample
ADA       P00813     VAR_002223  p.Arg149Gln    Disease       rs121908737 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002224  p.Arg149Trp    Disease       rs121908733 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002225  p.Leu152Met    Polymorphism  rs121908728 -
ADA       P00813     VAR_002226  p.Arg156Cys    Disease       rs121908735 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002227  p.Arg156His    Disease       rs121908722 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002228  p.Val177Met    Disease       rs121908719 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002229  p.Ala179Asp    Disease       rs121908727 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002230  p.Gln199Pro    Disease       rs121908734 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002231  p.Arg211Cys    Disease       rs121908740 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002232  p.Arg211His    Disease       rs121908716 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002233  p.Ala215Thr    Disease       rs114025668 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002234  p.Gly216Arg    Disease       rs121908723 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002235  p.Thr233Ile    Polymorphism  rs121908729 -
ADA       P00813     VAR_002236  p.Pro274Leu    Disease       rs121908738 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002237  p.Ser291Leu    Disease       rs121908721 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002238  p.Pro297Gln    Disease       rs121908718 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002239  p.Leu304Arg    Disease       -           Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA       P00813     VAR_002240  p.Ala329Val    Disease       rs121908715 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADAP1     O75689     VAR_047470  p.Gly241Ser    Polymorphism  rs10256887  -
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  -           A colorectal cancer sample
ADARB2    Q9NS39     VAR_048726  p.Ala626Thr    Polymorphism  rs2271275   -
ADAR      P55265     VAR_017240  p.Lys384Arg    Polymorphism  rs2229857   -
ADAR      P55265     VAR_017604  p.Leu923Pro    Disease       rs28936680  Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
ADAR      P55265     VAR_017605  p.Phe1165Ser   Disease       rs28936681  Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
ADAR      P55265     VAR_021729  p.Cys966Phe    Disease       -           Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
ADAR      P55265     VAR_024407  p.Tyr587Cys    Polymorphism  rs17843865  -
ADAR      P55265     VAR_026669  p.Arg1155Trp   Disease       -           Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400]
ADAR      P55265     VAR_035805  p.Glu806Val    Unclassified  -           A breast cancer sample
ADAR      P55265     VAR_048725  p.Arg100Gly    Polymorphism  rs1466731   -
ADAR      P55265     VAR_069535  p.Pro193Ala    Disease       -           Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069536  p.Ala870Thr    Disease       -           Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069537  p.Ile872Thr    Disease       -           Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069538  p.Arg892His    Disease       -           Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069539  p.Lys999Asn    Disease       -           Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069540  p.Gly1007Arg   Disease       -           Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069541  p.Tyr1112Phe   Disease       -           Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAR      P55265     VAR_069542  p.Asp1113His   Disease       -           Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010]
ADAT1     Q9BUB4     VAR_032340  p.His167Asn    Polymorphism  rs3743598   -
ADAT1     Q9BUB4     VAR_032341  p.Thr203Asn    Polymorphism  rs3743599   -
ADAT1     Q9BUB4     VAR_055649  p.Thr242Pro    Polymorphism  rs3743600   -
ADAT1     Q9BUB4     VAR_061098  p.Ile226Val    Polymorphism  rs56029288  -
ADAT3     Q96EY9     VAR_035804  p.Arg332Cys    Unclassified  -           A breast cancer sample
ADAT3     Q96EY9     VAR_069778  p.Val128Met    Disease       -           Mental retardation, autosomal recessive 36 (MRT36) [MIM:615286]
ADCK2     Q7Z695     VAR_029992  p.Ser307Pro    Polymorphism  rs1140034   -
ADCK2     Q7Z695     VAR_029993  p.Val418Met    Polymorphism  rs3748092   -
ADCK2     Q7Z695     VAR_029994  p.Pro622Leu    Polymorphism  rs1046515   -
ADCK2     Q7Z695     VAR_041418  p.Val418Leu    Polymorphism  rs3748092   -
ADCK2     Q7Z695     VAR_041419  p.Pro626Leu    Polymorphism  rs55922126  -
ADCK2     Q7Z695     VAR_060990  p.Ser66Gly     Polymorphism  rs2968558   -
ADCK3     Q8NI60     VAR_020319  p.His85Gln     Polymorphism  rs2297411   -
ADCK3     Q8NI60     VAR_044402  p.Arg213Trp    Disease       -           Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
ADCK3     Q8NI60     VAR_044403  p.Gly272Asp    Disease       -           Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
ADCK3     Q8NI60     VAR_044404  p.Gly272Val    Disease       -           Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
ADCK3     Q8NI60     VAR_044405  p.Tyr514Cys    Disease       -           Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
ADCK3     Q8NI60     VAR_044406  p.Gly549Ser    Disease       -           Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
ADCK3     Q8NI60     VAR_044407  p.Glu551Lys    Disease       -           Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]
ADCK3     Q8NI60     VAR_045576  p.Ile341Thr    Polymorphism  rs55798516  -
ADCK4     Q96D53     VAR_029995  p.His174Arg    Polymorphism  rs3865452   -
ADCK4     Q96D53     VAR_041420  p.Arg78Cys     Polymorphism  rs11538384  -
ADCK4     Q96D53     VAR_041421  p.Thr318Met    Polymorphism  rs55899516  -
ADCK4     Q96D53     VAR_041422  p.Thr352Arg    Polymorphism  rs36012476  -
ADCK4     Q96D53     VAR_041423  p.Thr462Met    Polymorphism  rs56083906  -
ADCK4     Q96D53     VAR_070552  p.Arg178Trp    Disease       -           Nephrotic syndrome 9 (NPHS9) [MIM:615573]
ADCK4     Q96D53     VAR_070553  p.Asp286Gly    Disease       -           Nephrotic syndrome 9 (NPHS9) [MIM:615573]
ADCK4     Q96D53     VAR_070554  p.Arg320Trp    Disease       -           Nephrotic syndrome 9 (NPHS9) [MIM:615573]
ADCK4     Q96D53     VAR_070555  p.Arg343Trp    Disease       -           Nephrotic syndrome 9 (NPHS9) [MIM:615573]
ADCK4     Q96D53     VAR_070556  p.Arg477Gln    Disease       -           Nephrotic syndrome 9 (NPHS9) [MIM:615573]
ADCK5     Q3MIX3     VAR_029996  p.Arg17Ser     Polymorphism  rs6599528   -
ADCY10    Q96PN6     VAR_038476  p.Thr234Met    Polymorphism  rs16859886  -
ADCY10    Q96PN6     VAR_038477  p.Ile697Val    Polymorphism  rs2071921   -
ADCY1     Q08828     VAR_029186  p.Pro456Leu    Polymorphism  rs12721473  -
ADCY1     Q08828     VAR_029187  p.Ala940Thr    Polymorphism  rs45444695  -
ADCY1     Q08828     VAR_048246  p.Val984Met    Polymorphism  rs2293106   -
ADCY2     Q08462     VAR_029012  p.Val147Leu    Polymorphism  rs13166360  -
ADCY2     Q08462     VAR_048247  p.Val163Ile    Polymorphism  rs34043481  -
ADCY3     O60266     VAR_048248  p.Ser107Pro    Polymorphism  rs11676272  -
ADCY5     O95622     VAR_068821  p.Ala726Thr    Disease       -           Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]
ADCY6     O43306     VAR_048249  p.Ala674Ser    Polymorphism  rs3730071   -
ADCY8     P40145     VAR_029188  p.Ala80Thr     Polymorphism  rs2228949   -
ADCY8     P40145     VAR_036328  p.Phe881Leu    Unclassified  -           A colorectal cancer sample
ADCY9     O60503     VAR_023750  p.Ile772Met    Polymorphism  rs2230739   -
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      -
ADGB      Q8N7X0     VAR_025948  p.Ile310Thr    Polymorphism  rs9497606   -
ADGB      Q8N7X0     VAR_063158  p.Thr1637Ala   Polymorphism  rs1052445   -
ADH1B     P00325     VAR_000426  p.Arg48His     Polymorphism  rs1229984   -
ADH1B     P00325     VAR_000427  p.Arg370Cys    Polymorphism  rs2066702   -
ADH1B     P00325     VAR_019322  p.Asn57Lys     Polymorphism  rs1041969   -
ADH1B     P00325     VAR_019323  p.Thr60Ser     Polymorphism  rs6413413   -
ADH1C     P00326     VAR_000428  p.Arg272Gln    Polymorphism  rs1693482   -
ADH1C     P00326     VAR_000429  p.Ile350Val    Polymorphism  rs698       -
ADH1C     P00326     VAR_023992  p.Arg48His     Polymorphism  rs35385902  -
ADH1C     P00326     VAR_023993  p.Pro166Ser    Polymorphism  -           -
ADH1C     P00326     VAR_023994  p.Pro352Thr    Polymorphism  rs35719513  -
ADH4      P08319     VAR_023461  p.Ile309Val    Polymorphism  rs1126671   -
ADH4      P08319     VAR_023462  p.Arg318His    Polymorphism  rs29001219  -
ADH4      P08319     VAR_023463  p.Val374Ile    Polymorphism  rs1126673   -
ADH5      P11766     VAR_025823  p.Leu163Ser    Polymorphism  rs28730623  -
ADH5      P11766     VAR_025824  p.Val309Ile    Polymorphism  rs28730628  -
ADH5      P11766     VAR_048199  p.Asp353Glu    Polymorphism  rs16996593  -
ADH6      P28332     VAR_022655  p.Cys102Gly    Polymorphism  rs28720152  -
ADH6      P28332     VAR_022656  p.Ile114Val    Polymorphism  rs28720153  -
ADH6      P28332     VAR_048198  p.Thr151Pro    Polymorphism  rs34582580  -
ADH7      P40394     VAR_024364  p.Gly92Ala     Polymorphism  rs1573496   -
ADHFE1    Q8IWW8     VAR_039470  p.Asp242Val    Unclassified  -           A breast cancer sample
ADHFE1    Q8IWW8     VAR_054015  p.Cys449Arg    Polymorphism  rs1060242   -
ADIPOQ    Q15848     VAR_013273  p.Gly84Arg     Unclassified  -           -
ADIPOQ    Q15848     VAR_013274  p.Arg112Cys    Disease       -           Adiponectin deficiency (ADPND) [MIM:612556]
ADIPOQ    Q15848     VAR_013275  p.Val117Met    Polymorphism  -           -
ADIPOQ    Q15848     VAR_013276  p.Ile164Thr    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       -           Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
ADK       P55263     VAR_066641  p.Asp235Ala    Disease       -           Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
ADK       P55263     VAR_066642  p.Ala318Glu    Disease       -           Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
ADM       P35318     VAR_014861  p.Ser50Arg     Polymorphism  rs5005      -
ADM       P35318     VAR_048205  p.Pro85Arg     Polymorphism  rs2228573   -
ADO       Q96SZ5     VAR_025333  p.Gly25Trp     Polymorphism  rs2236295   -
ADO       Q96SZ5     VAR_025334  p.Pro39Ala     Polymorphism  rs10995311  -
ADO       Q96SZ5     VAR_033691  p.Pro266Ser    Polymorphism  rs569705    -
ADORA1    P30542     VAR_035754  p.Glu170Lys    Unclassified  -           A colorectal cancer sample
ADORA1    P30542     VAR_044138  p.Ala43Ser     Polymorphism  rs11547175  -
ADORA1    P30542     VAR_044139  p.Ser50Pro     Polymorphism  rs11547174  -
ADORA1    P30542     VAR_044140  p.Arg105His    Polymorphism  rs11547176  -
ADORA1    P30542     VAR_044141  p.Pro261Gln    Polymorphism  rs17852405  -
ADORA2A   P29274     VAR_003451  p.Gly392Arg    Polymorphism  -           -
ADORA2A   P29274     VAR_011835  p.Ala50Val     Polymorphism  rs4530      -
ADORA2A   P29274     VAR_011836  p.Arg300His    Polymorphism  rs4990      -
ADORA3    P33765     VAR_035755  p.Ala105Thr    Unclassified  -           A colorectal cancer sample
ADORA3    P33765     VAR_049366  p.Ile248Leu    Polymorphism  rs35511654  -
ADORA3    P33765     VAR_049367  p.Met266Lys    Polymorphism  rs2800889   -
ADPGK     Q9BRR6     VAR_060085  p.Lys184Arg    Polymorphism  rs8024644   -
ADPRHL1   Q8NDY3     VAR_048890  p.Ala7Val      Polymorphism  rs9577273   -
ADPRHL2   Q9NX46     VAR_030579  p.Glu209Lys    Polymorphism  rs2236387   -
ADPRM     Q3LIE5     VAR_032125  p.Leu92Arg     Polymorphism  rs34940296  -
ADPRM     Q3LIE5     VAR_032126  p.Glu337Gly    Polymorphism  rs406446    -
ADRA1A    P35348     VAR_019509  p.Cys347Arg    Polymorphism  rs1048101   -
ADRA1A    P35348     VAR_035756  p.Gly40Trp     Unclassified  -           A breast cancer sample
ADRA1A    P35348     VAR_049370  p.Ile200Ser    Polymorphism  rs2229125   -
ADRA1A    P35348     VAR_049371  p.Lys414Arg    Polymorphism  rs3730247   -
ADRA1A    P35348     VAR_049372  p.Glu465Asp    Polymorphism  rs2229126   -
ADRA1B    P35368     VAR_019510  p.Val51Gly     Polymorphism  rs8192448   -
ADRA2A    P08913     VAR_014957  p.Asn251Lys    Polymorphism  rs1800035   -
ADRA2A    P08913     VAR_055908  p.Cys401Ser    Polymorphism  rs35658213  -
ADRA2B    P18089     VAR_025099  p.Gly211Ala    Polymorphism  rs9333568   -
ADRA2B    P18089     VAR_025100  p.Val376Gly    Polymorphism  -           -
ADRA2B    P18089     VAR_033462  p.Val373Ile    Polymorphism  rs29000569  -
ADRA2B    P18089     VAR_033463  p.Val376Ile    Polymorphism  rs29000569  -
ADRB1     P08588     VAR_009879  p.Ser49Gly     Polymorphism  rs1801252   -
ADRB1     P08588     VAR_009880  p.Arg389Gly    Polymorphism  rs1801253   -
ADRB1     P08588     VAR_018742  p.Arg389Leu    Polymorphism  -           -
ADRB1     P08588     VAR_055909  p.Ala26Val     Polymorphism  rs34844626  -
ADRB1     P08588     VAR_055910  p.Ala29Thr     Polymorphism  rs35720093  -
ADRB1     P08588     VAR_055911  p.Arg31Gln     Polymorphism  rs35230616  -
ADRB1     P08588     VAR_055912  p.Arg399His    Polymorphism  rs36052953  -
ADRB1     P08588     VAR_055913  p.His405Tyr    Polymorphism  rs35705839  -
ADRB2     P07550     VAR_003452  p.Gly16Arg     Polymorphism  rs1042713   -
ADRB2     P07550     VAR_003453  p.Glu27Gln     Polymorphism  rs1042714   -
ADRB2     P07550     VAR_003454  p.Val34Met     Polymorphism  -           -
ADRB2     P07550     VAR_003455  p.Thr164Ile    Polymorphism  rs1800888   -
ADRB2     P07550     VAR_009124  p.Ile159Leu    Polymorphism  -           -
ADRB2     P07550     VAR_009125  p.Ile159Phe    Polymorphism  -           -
ADRB2     P07550     VAR_009394  p.Lys375Arg    Polymorphism  -           -
ADRB2     P07550     VAR_025101  p.Ser220Cys    Polymorphism  rs3729943   -
ADRB2     P07550     VAR_049373  p.Asn15Ser     Polymorphism  rs33973603  -
ADRB3     P13945     VAR_003456  p.Trp64Arg     Polymorphism  rs4994      -
ADRB3     P13945     VAR_014166  p.Thr265Met    Polymorphism  rs4995      -
ADRB3     P13945     VAR_025102  p.Arg353Cys    Polymorphism  rs36031925  -
ADRB3     P13945     VAR_029205  p.Glu249Lys    Polymorphism  rs28364012  -
ADRBK1    P25098     VAR_040378  p.Ile184Thr    Polymorphism  rs55696045  -
ADRBK1    P25098     VAR_040379  p.Arg578Gln    Unclassified  -           A colorectal adenocarcinoma sample
ADRBK2    P35626     VAR_028005  p.Val409Met    Polymorphism  rs2272859   -
ADRBK2    P35626     VAR_040380  p.Arg50Ser     Polymorphism  rs55700971  -
ADRBK2    P35626     VAR_040381  p.Asn60Ser     Polymorphism  rs55740593  -
ADRBK2    P35626     VAR_040382  p.Arg104Lys    Unclassified  -           A lung bronchoalveolar carcinoma sample
ADSL      P30566     VAR_000680  p.Ser438Pro    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_007972  p.Ile72Val     Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_007973  p.Arg141Trp    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_007974  p.Arg190Gln    Disease       rs28941471  Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_007975  p.Lys246Glu    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_007976  p.Arg303Cys    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_007977  p.Ser395Arg    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_007978  p.Arg426His    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_016930  p.Ala2Val      Disease       rs143083947 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_016931  p.Met26Leu     Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_016932  p.Thr450Ser    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017078  p.Ala3Val      Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017079  p.Pro100Ala    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017080  p.Tyr114His    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017081  p.Arg194Cys    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017082  p.Asp268Asn    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017083  p.Leu311Val    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017084  p.Pro318Leu    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017085  p.Val364Met    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017086  p.Arg374Trp    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017087  p.Arg396Cys    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017088  p.Arg396His    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017089  p.Asp422Tyr    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017090  p.Leu423Val    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017091  p.Asp430Asn    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017092  p.Ser447Pro    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_017093  p.Arg452Pro    Disease       -           Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL      P30566     VAR_037883  p.Ser31Asn     Polymorphism  rs5757921   -
ADSL      P30566     VAR_037884  p.Lys147Met    Polymorphism  rs11089991  -
ADSS      P30520     VAR_051881  p.Leu179Phe    Polymorphism  rs12134870  -
ADTRP     Q96IZ2     VAR_024365  p.Val202Ile    Polymorphism  rs2076185   -
AEBP1     Q8IUX7     VAR_043118  p.Pro273Thr    Polymorphism  rs2537188   -
AEBP1     Q8IUX7     VAR_043119  p.Asp648Glu    Polymorphism  rs11770649  -
AEBP1     Q8IUX7     VAR_043120  p.Pro1001Leu   Polymorphism  rs4724285   -
AEBP1     Q8IUX7     VAR_043121  p.Lys1133Glu   Polymorphism  rs13928     -
AEBP1     Q8IUX7     VAR_043122  p.Val1148Ile   Polymorphism  rs13898     -
AEN       Q8WTP8     VAR_039651  p.Pro15Leu     Polymorphism  rs3743477   -
AEN       Q8WTP8     VAR_039652  p.Ser88Cys     Polymorphism  rs8026929   -
AEN       Q8WTP8     VAR_039653  p.Asn140Asp    Polymorphism  rs8027765   -
AES       Q08117     VAR_011958  p.Ala168Glu    Polymorphism  rs1802578   -
AFAP1L2   Q8N4X5     VAR_050505  p.Gly138Arg    Polymorphism  rs11196689  -
AFAP1L2   Q8N4X5     VAR_050506  p.Ser366Arg    Polymorphism  rs7075067   -
AFAP1L2   Q8N4X5     VAR_050507  p.Thr522Ser    Polymorphism  rs2781806   -
AFAP1L2   Q8N4X5     VAR_054214  p.Glu726Lys    Polymorphism  rs11599051  -
AFAP1     Q8N556     VAR_038578  p.Ser403Cys    Polymorphism  rs28406288  -
AFAP1     Q8N556     VAR_038579  p.Val518Met    Polymorphism  rs41264705  -
AFF1      P51825     VAR_020370  p.Pro209Ala    Polymorphism  rs3733378   -
AFF1      P51825     VAR_036130  p.Gln1204Lys   Unclassified  -           A breast cancer sample
AFF2      P51816     VAR_028217  p.Leu1185Met   Polymorphism  rs12858959  -
AFF3      P51826     VAR_030805  p.Ser358Asn    Polymorphism  rs4851223   -
AFF3      P51826     VAR_030806  p.Asn494Ser    Polymorphism  rs1047265   -
AFF4      Q9UHB7     VAR_053003  p.Thr136Pro    Polymorphism  rs34527550  -
AFF4      Q9UHB7     VAR_064693  p.Ser757Thr    Unclassified  -           -
AFG3L2    Q9Y4W6     VAR_063544  p.Asn432Thr    Disease       -           Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_063545  p.Glu691Lys    Disease       -           Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_063546  p.Ala694Glu    Disease       -           Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_063547  p.Arg702Gln    Disease       -           Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064402  p.Thr654Ile    Disease       -           Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064403  p.Met666Arg    Disease       -           Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064404  p.Met666Thr    Disease       -           Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064405  p.Met666Val    Disease       -           Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064406  p.Gly671Glu    Disease       -           Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064407  p.Gly671Arg    Disease       -           Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_064408  p.Glu700Lys    Disease       -           Spinocerebellar ataxia 28 (SCA28) [MIM:610246]
AFG3L2    Q9Y4W6     VAR_067330  p.Tyr616Cys    Disease       -           Spastic ataxia 5, autosomal recessive (SPAX5) [MIM:614487]
AFM       P43652     VAR_048218  p.Thr404Ser    Polymorphism  rs2276444   -
AFM       P43652     VAR_061003  p.Arg395His    Polymorphism  rs41265665  -
AFP       P02771     VAR_012049  p.Ala570Gly    Polymorphism  rs7790      -
AFP       P02771     VAR_033928  p.Lys187Gln    Polymorphism  rs35765619  -
AFTPH     Q6ULP2     VAR_056728  p.Asp233Gly    Polymorphism  rs35986567  -
AFTPH     Q6ULP2     VAR_056729  p.Glu301Lys    Polymorphism  rs3770740   -
AFTPH     Q6ULP2     VAR_056730  p.Asn550Ser    Polymorphism  rs3770739   -
AGAP11    Q8TF27     VAR_042518  p.Ile82Val     Polymorphism  rs2641563   -
AGAP1     Q9UPQ3     VAR_019550  p.Glu829Lys    Polymorphism  rs15718     -
AGAP1     Q9UPQ3     VAR_026446  p.Ser82Gly     Unclassified  -           -
AGAP1     Q9UPQ3     VAR_026447  p.Asp148Gly    Polymorphism  rs17855721  -
AGAP1     Q9UPQ3     VAR_026448  p.Val671Ile    Polymorphism  rs2034648   -
AGAP1     Q9UPQ3     VAR_026449  p.Arg798Gly    Unclassified  -           -
AGAP1     Q9UPQ3     VAR_026450  p.Pro854Thr    Unclassified  -           -
AGAP1     Q9UPQ3     VAR_048331  p.Pro522Leu    Polymorphism  rs17840725  -
AGA       P20933     VAR_005069  p.Gly60Asp     Disease       -           Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005070  p.Ser72Pro     Disease       -           Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005071  p.Ala101Val    Disease       -           Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005072  p.Arg161Gln    Disease       rs192195150 Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005073  p.Cys163Ser    Disease       rs121964904 Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005074  p.Gly302Arg    Disease       -           Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_005075  p.Cys306Arg    Disease       -           Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015427  p.Val12Leu     Unclassified  rs74626221  -
AGA       P20933     VAR_015428  p.Gly100Glu    Disease       -           Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015429  p.Phe135Ser    Disease       -           Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015430  p.Gly252Glu    Disease       -           Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015431  p.Gly252Arg    Disease       -           Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_015432  p.Thr257Ile    Disease       -           Aspartylglucosaminuria (AGU) [MIM:208400]
AGA       P20933     VAR_033533  p.Thr149Ser    Polymorphism  rs2228119   -
AGA       P20933     VAR_061026  p.Thr322Ile    Polymorphism  rs56849061  -
AGAP2     Q99490     VAR_022046  p.Gly507Ser    Polymorphism  rs2301553   -
AGAP2     Q99490     VAR_026438  p.Val455Ala    Unclassified  -           A glioblastoma cell line
AGAP2     Q99490     VAR_026439  p.Arg518Gly    Unclassified  -           A sarcoma cell line
AGAP2     Q99490     VAR_026440  p.Thr568Ile    Unclassified  -           -
AGAP2     Q99490     VAR_026441  p.Ala651Val    Unclassified  -           A glioblastoma cell line
AGAP2     Q99490     VAR_026442  p.Glu767Val    Unclassified  -           A glioblastoma cell line
AGAP2     Q99490     VAR_026443  p.Asn939Asp    Unclassified  -           A glioblastoma cell line
AGAP2     Q99490     VAR_026444  p.Val947Met    Unclassified  -           A sarcoma cell line
AGAP2     Q99490     VAR_026445  p.Ser1022Pro   Unclassified  -           A glioblastoma cell line
AGAP2     Q99490     VAR_036183  p.Thr339Ala    Unclassified  -           A breast cancer sample
AGAP2     Q99490     VAR_036184  p.Asp816Tyr    Unclassified  -           A breast cancer sample
AGAP2     Q99490     VAR_055532  p.Gly1124Val   Polymorphism  rs238521    -
AGAP4     Q96P64     VAR_031804  p.Lys661Glu    Polymorphism  rs15718     -
AGAP8     Q5SRD3     VAR_064767  p.Gln567His    Polymorphism  -           -
AGBL1     Q96MI9     VAR_048604  p.Pro417Leu    Polymorphism  rs8029810   -
AGBL1     Q96MI9     VAR_048605  p.Ser435Pro    Polymorphism  rs11857527  -
AGBL1     Q96MI9     VAR_059195  p.Gln1010Arg   Polymorphism  rs8028043   -
AGBL1     Q96MI9     VAR_070225  p.Cys990Ser    Disease       -           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  -
AGER      Q15109     VAR_011338  p.Gln100Arg    Polymorphism  -           -
AGER      Q15109     VAR_024500  p.Gly82Ser     Polymorphism  rs2070600   -
AGFG2     O95081     VAR_050566  p.Thr365Asn    Polymorphism  rs34731997  -
AGGF1     Q8N302     VAR_017901  p.Glu133Lys    Disease       rs34203073  Klippel-Trenaunay syndrome (KTS) [MIM:149000]
AGGF1     Q8N302     VAR_017902  p.Pro698Thr    Polymorphism  rs34400049  -
AGGF1     Q8N302     VAR_037446  p.Thr180Ala    Polymorphism  rs9715897   -
AGGF1     Q8N302     VAR_037447  p.Leu471Pro    Polymorphism  rs17856835  -
AGK       Q53H12     VAR_027848  p.Val3Met      Polymorphism  rs10262855  -
AGL       P35573     VAR_009230  p.Gly1115Arg   Polymorphism  rs2230307   -
AGL       P35573     VAR_009231  p.Gly1448Arg   Disease       -           Glycogen storage disease 3 (GSD3) [MIM:232400]
AGL       P35573     VAR_009621  p.Arg387Gln    Polymorphism  rs17121464  -
AGL       P35573     VAR_009622  p.Glu1343Lys   Polymorphism  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  -
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       -           Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
AGPAT2    O15120     VAR_017328  p.Gly136Arg    Disease       -           Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
AGPAT5    Q9NUQ2     VAR_022696  p.Tyr77Cys     Polymorphism  rs17077958  -
AGPS      O00116     VAR_005002  p.Arg419His    Disease       -           Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_025895  p.Thr309Ile    Disease       -           Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_025896  p.Leu469Pro    Disease       -           Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_066929  p.Arg182Gln    Disease       -           Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_066930  p.Glu471Lys    Disease       -           Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGPS      O00116     VAR_066931  p.Thr568Met    Disease       -           Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]
AGRN      O00468     VAR_048966  p.Val1666Ile   Polymorphism  rs17160775  -
AGRN      O00468     VAR_068724  p.Val23Leu     Polymorphism  -           -
AGRN      O00468     VAR_068725  p.Asp58Asn     Polymorphism  -           -
AGRN      O00468     VAR_068726  p.Asn105Ile    Disease       -           Myasthenic syndrome, congenital, with pre- and postsynaptic defects (CMSPPD) [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, with pre- and postsynaptic defects (CMSPPD) [MIM:615120]
AGRN      O00468     VAR_068743  p.Arg1734His   Polymorphism  rs145444272 -
AGRN      O00468     VAR_068744  p.Asp1789Asn   Polymorphism  -           -
AGRN      O00468     VAR_068745  p.Gly2045Val   Polymorphism  -           -
AGRN      O00468     VAR_069066  p.Val1727Phe   Disease       -           Myasthenic syndrome, congenital, with pre- and postsynaptic defects (CMSPPD) [MIM:615120]
AGRN      O00468     VAR_071367  p.Gly76Ser     Disease       -           Myasthenic syndrome, congenital, with pre- and postsynaptic defects (CMSPPD) [MIM:615120]
AGRN      O00468     VAR_071368  p.Ala745Val    Polymorphism  -           -
AGRN      O00468     VAR_071369  p.Gly1875Arg   Disease       -           Myasthenic syndrome, congenital, with pre- and postsynaptic defects (CMSPPD) [MIM:615120]
AGRP      O00253     VAR_015385  p.Ala67Thr     Polymorphism  rs5030980   -
AGT       P01019     VAR_007093  p.Thr207Met    Polymorphism  rs4762      -
AGT       P01019     VAR_007094  p.Thr242Ile    Unclassified  -           -
AGT       P01019     VAR_007095  p.Leu244Arg    Polymorphism  rs5041      -
AGT       P01019     VAR_007096  p.Met268Thr    Polymorphism  rs699       -
AGT       P01019     VAR_007097  p.Tyr281Cys    Polymorphism  rs56073403  -
AGT       P01019     VAR_014573  p.Leu392Met    Polymorphism  rs1805090   -
AGT       P01019     VAR_022933  p.Leu43Phe     Polymorphism  rs41271499  -
AGT       P01019     VAR_029166  p.Glu98Lys     Polymorphism  rs11568032  -
AGT       P01019     VAR_029167  p.Met268Ile    Polymorphism  rs11568053  -
AGT       P01019     VAR_035431  p.Thr137Met    Polymorphism  rs34829218  -
AGT       P01019     VAR_035432  p.Pro335Ser    Polymorphism  rs17856352  -
AGT       P01019     VAR_035433  p.Arg375Gln    Disease       -           Renal tubular dysgenesis (RTD) [MIM:267430]
AGT       P01019     VAR_051939  p.Gly114Cys    Polymorphism  rs2229389   -
AGTPBP1   Q9UPW5     VAR_036884  p.Glu423Lys    Unclassified  -           A colorectal cancer sample
AGTR1     P30556     VAR_011846  p.Leu48Val     Polymorphism  rs2011425   -
AGTR1     P30556     VAR_011847  p.Cys289Trp    Polymorphism  rs1064533   -
AGTR1     P30556     VAR_011848  p.Thr336Pro    Polymorphism  rs1801021   -
AGTR1     P30556     VAR_029206  p.Ala163Thr    Polymorphism  rs12721226  -
AGTR1     P30556     VAR_029207  p.Ala244Ser    Polymorphism  rs12721225  -
AGTR1     P30556     VAR_035086  p.Thr282Met    Disease       -           Renal tubular dysgenesis (RTD) [MIM:267430]
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  -           -
AGTRAP    Q6RW13     VAR_023075  p.Ala143Val    Polymorphism  rs17875960  -
AGXT2     Q9BYV1     VAR_022140  p.Val140Ile    Polymorphism  rs37369     -
AGXT2     Q9BYV1     VAR_022141  p.Thr212Ile    Polymorphism  rs180749    -
AGXT2     Q9BYV1     VAR_023483  p.Ser102Asn    Polymorphism  rs37370     -
AGXT2     Q9BYV1     VAR_029513  p.Val498Leu    Polymorphism  rs16899974  -
AGXT2     Q9BYV1     VAR_048231  p.Gly132Arg    Polymorphism  rs16870794  -
AGXT2     Q9BYV1     VAR_048232  p.Pro492Arg    Polymorphism  rs17245714  -
AGXT2     Q9BYV1     VAR_061006  p.Ser102Ile    Polymorphism  rs37370     -
AGXT2     Q9BYV1     VAR_061007  p.Ser102Thr    Polymorphism  rs37370     -
AGXT      P21549     VAR_000587  p.Pro11Leu     Polymorphism  rs34116584  -
AGXT      P21549     VAR_000588  p.Gly41Arg     Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000589  p.Phe152Ile    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000590  p.Gly170Arg    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000591  p.Ser187Phe    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000592  p.Ser205Pro    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_000593  p.Ile340Met    Polymorphism  rs4426527   -
AGXT      P21549     VAR_008878  p.Gly82Glu     Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_008879  p.Arg233Cys    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_008880  p.Arg233His    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_008881  p.Ile244Thr    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_010969  p.Gly41Val     Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_010971  p.Gly116Arg    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_010972  p.Gly156Arg    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_010973  p.Asp183Asn    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_048236  p.Asn22Ser     Polymorphism  rs34885252  -
AGXT      P21549     VAR_048237  p.Ala295Thr    Polymorphism  rs13408961  -
AGXT      P21549     VAR_060547  p.Thr9Asn      Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060548  p.Gly82Arg     Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060549  p.Trp108Arg    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060550  p.Ala112Asp    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060552  p.Leu153Val    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060553  p.Ser158Leu    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060554  p.Gly161Arg    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060555  p.Cys173Tyr    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060556  p.Gly190Arg    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060557  p.Met195Arg    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060558  p.Asp201Glu    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060559  p.Ser218Leu    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060560  p.Arg233Leu    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060561  p.Asp243His    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060562  p.Cys253Arg    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060563  p.Ile279Met    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060564  p.Ile279Thr    Polymorphism  rs140992177 -
AGXT      P21549     VAR_060565  p.Ala280Val    Polymorphism  rs73106685  -
AGXT      P21549     VAR_060566  p.Ser287Thr    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060567  p.Arg289Cys    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060569  p.Leu298Pro    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060570  p.Val326Ile    Polymorphism  rs115057148 -
AGXT      P21549     VAR_060571  p.Val336Asp    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AGXT      P21549     VAR_060572  p.Gly350Asp    Disease       -           Hyperoxaluria primary 1 (HP1) [MIM:259900]
AHCTF1    Q8WYP5     VAR_027037  p.Asn874Ser    Polymorphism  rs2642990   -
AHCTF1    Q8WYP5     VAR_027038  p.Leu2185Val   Polymorphism  rs12410563  -
AHCY      P23526     VAR_006934  p.Asp86Asn     Polymorphism  -           -
AHCY      P23526     VAR_052286  p.Arg38Trp     Polymorphism  rs13043752  -
AHCY      P23526     VAR_058588  p.Arg49Cys     Disease       -           Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHCY      P23526     VAR_058589  p.Asp86Gly     Disease       -           Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHCY      P23526     VAR_058590  p.Ala89Val     Disease       -           Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHCY      P23526     VAR_058591  p.Tyr143Cys    Disease       -           Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
AHDC1     Q5TGY3     VAR_037765  p.Ala935Thr    Polymorphism  rs4908364   -
AHI1      Q8N157     VAR_023391  p.Val443Asp    Disease       -           Joubert syndrome 3 (JBTS3) [MIM:608629]
AHI1      Q8N157     VAR_037892  p.Ile49Asn     Polymorphism  -           -
AHI1      Q8N157     VAR_037893  p.Arg548His    Polymorphism  rs35433555  -
AHI1      Q8N157     VAR_037894  p.Arg723Gln    Disease       -           Joubert syndrome 3 (JBTS3) [MIM:608629]
AHI1      Q8N157     VAR_037895  p.Ser761Leu    Polymorphism  -           -
AHI1      Q8N157     VAR_037896  p.Arg830Trp    Polymorphism  rs13312995  -
AHI1      Q8N157     VAR_037897  p.Thr856Ser    Polymorphism  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  -           -
AHI1      Q8N157     VAR_068171  p.Glu1086Gly   Disease       rs148000791 Joubert syndrome 3 (JBTS3) [MIM:608629]
AHI1      Q8N157     VAR_071194  p.Arg351Leu    Disease       -           Joubert syndrome 3 (JBTS3) [MIM:608629]
AHNAK2    Q8IVF2     VAR_039069  p.Val1266Met   Polymorphism  rs11850930  -
AHNAK2    Q8IVF2     VAR_039070  p.Leu1470Val   Polymorphism  rs12890949  -
AHNAK2    Q8IVF2     VAR_039071  p.Ser2115Arg   Polymorphism  rs2582514   -
AHNAK2    Q8IVF2     VAR_039072  p.Asp2429Glu   Polymorphism  rs11160826  -
AHNAK2    Q8IVF2     VAR_039073  p.Leu2430Val   Polymorphism  rs2819426   -
AHNAK2    Q8IVF2     VAR_039074  p.Val2616Ala   Polymorphism  rs4264326   -
AHNAK2    Q8IVF2     VAR_039075  p.Leu5028Met   Polymorphism  rs9672139   -
AHNAK2    Q8IVF2     VAR_039076  p.Gly5564Arg   Polymorphism  rs2819420   -
AHNAK2    Q8IVF2     VAR_050635  p.Thr525Ala    Polymorphism  rs2278607   -
AHNAK2    Q8IVF2     VAR_050636  p.Met2107Val   Polymorphism  rs11846918  -
AHNAK2    Q8IVF2     VAR_050637  p.Lys2410Arg   Polymorphism  rs11845746  -
AHNAK2    Q8IVF2     VAR_050638  p.Val3796Leu   Polymorphism  rs12890949  -
AHNAK2    Q8IVF2     VAR_050639  p.Met3961Val   Polymorphism  rs10141053  -
AHNAK2    Q8IVF2     VAR_050640  p.Ile4071Met   Polymorphism  rs2582511   -
AHNAK2    Q8IVF2     VAR_050641  p.Phe4138Leu   Polymorphism  rs2582505   -
AHNAK2    Q8IVF2     VAR_050642  p.Lys4232Asn   Polymorphism  rs2819423   -
AHNAK2    Q8IVF2     VAR_050643  p.Val4278Ala   Polymorphism  rs2819422   -
AHNAK2    Q8IVF2     VAR_050644  p.Met4536Leu   Polymorphism  rs9672139   -
AHNAK2    Q8IVF2     VAR_050645  p.Thr4664Ala   Polymorphism  rs4465542   -
AHNAK2    Q8IVF2     VAR_050646  p.Gly5072Arg   Polymorphism  rs2819420   -
AHNAK2    Q8IVF2     VAR_050647  p.Tyr5184Asp   Polymorphism  rs2819419   -
AHNAK2    Q8IVF2     VAR_050648  p.Pro5397Ala   Polymorphism  rs3742935   -
AHNAK2    Q8IVF2     VAR_050649  p.Thr5732Met   Polymorphism  rs748358    -
AHNAK2    Q8IVF2     VAR_059560  p.Glu1856Asp   Polymorphism  rs2819435   -
AHNAK2    Q8IVF2     VAR_059561  p.Leu2146Val   Polymorphism  rs12890949  -
AHNAK2    Q8IVF2     VAR_059562  p.Glu2503Ala   Polymorphism  rs2819429   -
AHNAK2    Q8IVF2     VAR_059563  p.Arg2862Ser   Polymorphism  rs2582514   -
AHNAK2    Q8IVF2     VAR_059564  p.Asp3176Glu   Polymorphism  rs11160826  -
AHNAK2    Q8IVF2     VAR_059565  p.Leu3177Val   Polymorphism  rs2819426   -
AHNAK2    Q8IVF2     VAR_059566  p.Pro3336Leu   Polymorphism  rs10438247  -
AHNAK2    Q8IVF2     VAR_059567  p.Val3363Ala   Polymorphism  rs4264326   -
AHNAK2    Q8IVF2     VAR_059568  p.Asp3793Asn   Polymorphism  rs11160825  -
AHNAK2    Q8IVF2     VAR_059569  p.Met3869Val   Polymorphism  rs10438246  -
AHNAK2    Q8IVF2     VAR_059570  p.Lys3902Asn   Polymorphism  rs2819423   -
AHNAK2    Q8IVF2     VAR_059571  p.Ala4085Val   Polymorphism  rs2013462   -
AHNAK2    Q8IVF2     VAR_059572  p.Asp4198Asn   Polymorphism  rs11848082  -
AHNAK2    Q8IVF2     VAR_059573  p.Leu4326Pro   Polymorphism  rs2819421   -
AHNAK2    Q8IVF2     VAR_059574  p.Pro4478Leu   Polymorphism  rs2582513   -
AHNAK2    Q8IVF2     VAR_061548  p.Met1298Ile   Polymorphism  rs2819440   -
AHNAK2    Q8IVF2     VAR_061549  p.Gly3654Glu   Polymorphism  rs28380382  -
AHNAK2    Q8IVF2     VAR_061550  p.Gly5139Glu   Polymorphism  rs61421370  -
AHNAK     Q09666     VAR_039058  p.Gly962Val    Polymorphism  rs664761    -
AHNAK     Q09666     VAR_039059  p.Ala2114Thr   Polymorphism  rs1298288   -
AHNAK     Q09666     VAR_039060  p.Pro2439Leu   Polymorphism  rs11824660  -
AHNAK     Q09666     VAR_039061  p.Gln3003Lys   Polymorphism  rs566144    -
AHNAK     Q09666     VAR_039062  p.Val3190Ile   Polymorphism  rs11231129  -
AHNAK     Q09666     VAR_039063  p.Ser3724Pro   Polymorphism  rs11231128  -
AHNAK     Q09666     VAR_039064  p.Gly4561Asp   Polymorphism  rs12795508  -
AHNAK     Q09666     VAR_039065  p.Met4611Val   Polymorphism  rs12801302  -
AHNAK     Q09666     VAR_039066  p.Ile4613Val   Polymorphism  rs12801153  -
AHNAK     Q09666     VAR_039067  p.Asp4631Gly   Polymorphism  rs12801123  -
AHNAK     Q09666     VAR_039068  p.Thr5415Ala   Polymorphism  rs11231126  -
AHNAK     Q09666     VAR_061551  p.Lys2247Thr   Polymorphism  rs61524789  -
AHNAK     Q09666     VAR_061552  p.Asp4304Gly   Polymorphism  rs11828907  -
AHR       P35869     VAR_009281  p.Arg554Lys    Polymorphism  rs2066853   -
AHR       P35869     VAR_009282  p.Val570Ile    Polymorphism  rs4986826   -
AHR       P35869     VAR_015516  p.Pro517Ser    Polymorphism  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  -
AHSA2     Q719I0     VAR_038256  p.Met248Thr    Unclassified  -           A breast cancer sample
AHSG      P02765     VAR_002388  p.Thr248Met    Polymorphism  rs4917      -
AHSG      P02765     VAR_002389  p.Thr256Ser    Polymorphism  rs4918      -
AHSG      P02765     VAR_012474  p.Asp276Asn    Polymorphism  rs70961709  -
AHSG      P02765     VAR_012475  p.Arg317Cys    Polymorphism  rs35457250  -
AHSG      P02765     VAR_055802  p.Val142Leu    Polymorphism  rs7633550   -
AHSP      Q9NZD4     VAR_050650  p.Pro100Thr    Polymorphism  rs36018996  -
AICDA     Q9GZX7     VAR_013774  p.Arg24Trp     Disease       -           Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_013775  p.Trp80Arg     Disease       -           Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_013776  p.Leu106Pro    Disease       -           Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_013777  p.Met139Val    Disease       -           Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_013778  p.Phe151Ser    Disease       -           Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
AICDA     Q9GZX7     VAR_014091  p.Arg25Cys     Polymorphism  -           -
AIF1      P55008     VAR_048665  p.Gly14Arg     Polymorphism  rs2736182   -
AIFM1     O95831     VAR_067334  p.Gly308Glu    Disease       -           Combined oxidative phosphorylation deficiency 6 (COXPD6) [MIM:300816]
AIFM1     O95831     VAR_069468  p.Glu493Val    Disease       -           Cowchock syndrome (COWCK) [MIM:310490]
AIFM2     Q9BRQ8     VAR_050651  p.Met135Thr    Polymorphism  rs10999147  -
AIFM2     Q9BRQ8     VAR_050652  p.Asp288Asn    Polymorphism  rs2271694   -
AIFM3     Q96NN9     VAR_061553  p.Ser508Thr    Polymorphism  rs61356271  -
AIG1      Q9NVV5     VAR_057502  p.Gln151Glu    Polymorphism  rs1053193   -
AIM1L     Q8N1P7     VAR_048835  p.Ser249Asn    Polymorphism  rs10751735  -
AIM1      Q9Y4K1     VAR_055687  p.Gly267Asp    Polymorphism  rs11968933  -
AIM1      Q9Y4K1     VAR_055688  p.Gln293Pro    Polymorphism  rs1159148   -
AIM1      Q9Y4K1     VAR_055689  p.Cys491Arg    Polymorphism  rs3747787   -
AIM1      Q9Y4K1     VAR_055690  p.Leu1096Val   Polymorphism  rs1350902   -
AIM1      Q9Y4K1     VAR_055691  p.Glu1196Ala   Polymorphism  rs783396    -
AIM1      Q9Y4K1     VAR_055692  p.Cys1395Tyr   Polymorphism  rs2297970   -
AIM1      Q9Y4K1     VAR_055693  p.Thr1445Ser   Polymorphism  rs1676015   -
AIM2      O14862     VAR_022022  p.Glu32Lys     Polymorphism  rs2276405   -
AIM2      O14862     VAR_043379  p.Cys304Tyr    Polymorphism  -           -
AIMP1     Q12904     VAR_025212  p.Pro79Ala     Polymorphism  rs1134648   -
AIMP1     Q12904     VAR_029156  p.Thr104Ala    Polymorphism  rs2230254   -
AIMP1     Q12904     VAR_050124  p.Thr117Ala    Polymorphism  rs2230255   -
AIMP2     Q13155     VAR_025521  p.Ala129Gly    Polymorphism  rs17855441  -
AIMP2     Q13155     VAR_050125  p.Leu166Ile    Polymorphism  rs34525431  -
AIMP2     Q13155     VAR_058392  p.Ile92Val     Unclassified  -           A lung cancer cell line
AIMP2     Q13155     VAR_058394  p.Gly209Ser    Unclassified  -           A lung cancer cell line
AIPL1     Q9NZN9     VAR_010139  p.Cys239Arg    Disease       -           Leber congenital amaurosis 4 (LCA4) [MIM:604393]
AIPL1     Q9NZN9     VAR_010140  p.Asp90His     Polymorphism  rs12449580  -
AIPL1     Q9NZN9     VAR_050626  p.Val33Ala     Polymorphism  rs16955859  -
AIPL1     Q9NZN9     VAR_050627  p.Tyr134Phe    Polymorphism  rs16955851  -
AIPL1     Q9NZN9     VAR_067165  p.Arg270His    Disease       -           Leber congenital amaurosis 4 (LCA4) [MIM:604393]
AIPL1     Q9NZN9     VAR_067166  p.Arg302Leu    Polymorphism  rs62637015  -
AIP       O00170     VAR_043908  p.Arg16His     Polymorphism  rs145047094 -
AIP       O00170     VAR_043909  p.Gln228Lys    Polymorphism  rs641081    -
AIP       O00170     VAR_043910  p.Lys241Glu    Unclassified  -           -
AIP       O00170     VAR_043912  p.Arg271Trp    Unclassified  -           -
AIP       O00170     VAR_043913  p.Arg304Gln    Unclassified  -           -
AIP       O00170     VAR_061545  p.Gln307Arg    Polymorphism  rs4930199   -
AIRE      O43918     VAR_005004  p.Leu28Pro     Disease       rs179363878 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
AIRE      O43918     VAR_005005  p.Lys83Glu     Disease       -           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    Polymorphism  -           -
AIRE      O43918     VAR_013723  p.Cys311Tyr    Disease       -           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       -           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       rs179363888 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]
AJAP1     Q9UKB5     VAR_031821  p.Gly263Arg    Polymorphism  rs242056    -
AK1       P00568     VAR_004021  p.Arg128Trp    Disease       rs28930974  Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK1       P00568     VAR_034046  p.Glu123Gln    Polymorphism  rs8192462   -
AK1       P00568     VAR_055337  p.Gly40Arg     Disease       -           Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK1       P00568     VAR_055338  p.Gly64Arg     Disease       -           Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK1       P00568     VAR_055340  p.Tyr164Cys    Disease       -           Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]
AK2       P54819     VAR_050032  p.Ala209Thr    Polymorphism  rs12116440  -
AK2       P54819     VAR_054630  p.Arg103Trp    Disease       -           Reticular dysgenesis (RDYS) [MIM:267500]
AK2       P54819     VAR_054631  p.Asp165Gly    Disease       -           Reticular dysgenesis (RDYS) [MIM:267500]
AK5       Q9Y6K8     VAR_059435  p.Arg465Gln    Polymorphism  rs2803140   -
AK7       Q96M32     VAR_017059  p.Arg102Gln    Polymorphism  rs2275554   -
AK7       Q96M32     VAR_057950  p.Asn389Lys    Polymorphism  rs2369679   -
AK8       Q96MA6     VAR_030873  p.Ile5Thr      Polymorphism  rs2231400   -
AK8       Q96MA6     VAR_030874  p.Asp130Gly    Polymorphism  rs17407084  -
AKAP10    O43572     VAR_024607  p.Arg249His    Polymorphism  rs2108978   -
AKAP10    O43572     VAR_024608  p.Ile646Val    Polymorphism  rs203462    -
AKAP11    Q9UKA4     VAR_020131  p.Ser721Cys    Polymorphism  rs2236364   -
AKAP11    Q9UKA4     VAR_048207  p.His1070Arg   Polymorphism  rs17063163  -
AKAP11    Q9UKA4     VAR_048208  p.Leu1410Phe   Polymorphism  rs17063167  -
AKAP12    Q02952     VAR_035115  p.Lys117Glu    Polymorphism  rs10872670  -
AKAP12    Q02952     VAR_035116  p.Lys216Gln    Polymorphism  rs3734799   -
AKAP12    Q02952     VAR_035117  p.Glu920Gly    Polymorphism  rs13212161  -
AKAP12    Q02952     VAR_035118  p.Val1096Ile   Polymorphism  rs3734797   -
AKAP12    Q02952     VAR_035119  p.Arg1296Leu   Polymorphism  rs9478198   -
AKAP12    Q02952     VAR_035120  p.Glu1355Lys   Polymorphism  rs12201388  -
AKAP12    Q02952     VAR_035121  p.Glu1600Asp   Polymorphism  rs3823310   -
AKAP12    Q02952     VAR_035122  p.Glu1689Asp   Polymorphism  rs3734795   -
AKAP12    Q02952     VAR_035780  p.Glu240Lys    Unclassified  -           A colorectal cancer sample
AKAP12    Q02952     VAR_056731  p.Ala987Ser    Polymorphism  rs1042069   -
AKAP13    Q12802     VAR_030925  p.Met452Thr    Polymorphism  rs2061821   -
AKAP13    Q12802     VAR_030926  p.Trp494Arg    Polymorphism  rs2061822   -
AKAP13    Q12802     VAR_030927  p.Arg574Cys    Polymorphism  rs2061824   -
AKAP13    Q12802     VAR_030928  p.Gly624Val    Polymorphism  rs745191    -
AKAP13    Q12802     VAR_030929  p.Glu689Lys    Polymorphism  rs7177107   -
AKAP13    Q12802     VAR_030930  p.Val845Ala    Polymorphism  rs4075256   -
AKAP13    Q12802     VAR_030931  p.Val897Met    Polymorphism  rs4075254   -
AKAP13    Q12802     VAR_030932  p.Pro1062Ala   Polymorphism  rs4843074   -
AKAP13    Q12802     VAR_030933  p.Asp1086Asn   Polymorphism  rs4843075   -
AKAP13    Q12802     VAR_030934  p.Met1216Thr   Polymorphism  rs7162168   -
AKAP13    Q12802     VAR_030935  p.Gly2457Ser   Polymorphism  rs2241268   -
AKAP13    Q12802     VAR_030936  p.Ala2801Thr   Polymorphism  rs2614668   -
AKAP13    Q12802     VAR_051986  p.Lys526Gln    Polymorphism  rs34434221  -
AKAP13    Q12802     VAR_051987  p.Ser1525Gly   Polymorphism  rs35079107  -
AKAP17A   Q02040     VAR_055353  p.Pro194Ser    Polymorphism  rs17852504  -
AKAP1     Q92667     VAR_024512  p.Val60Met     Polymorphism  rs2230770   -
AKAP1     Q92667     VAR_049676  p.Ala18Val     Polymorphism  rs17761023  -
AKAP1     Q92667     VAR_049677  p.Cys102Tyr    Polymorphism  rs2230771   -
AKAP1     Q92667     VAR_049678  p.Arg124Cys    Polymorphism  rs17833723  -
AKAP2     Q9Y2D5     VAR_024248  p.Leu561Ser    Polymorphism  rs914358    -
AKAP3     O75969     VAR_036428  p.Arg831Cys    Unclassified  -           A colorectal cancer sample
AKAP3     O75969     VAR_055488  p.Gly118Glu    Polymorphism  rs2072355   -
AKAP3     O75969     VAR_055489  p.Ile500Thr    Polymorphism  rs12366671  -
AKAP3     O75969     VAR_055490  p.Ile661Thr    Polymorphism  rs1990313   -
AKAP3     O75969     VAR_055491  p.Ser700Phe    Polymorphism  rs2041291   -
AKAP3     O75969     VAR_055492  p.Ser725Leu    Polymorphism  rs2072357   -
AKAP3     O75969     VAR_059112  p.Ser700Pro    Polymorphism  rs2041290   -
AKAP3     O75969     VAR_060730  p.Thr464Ser    Polymorphism  rs11063266  -
AKAP3     O75969     VAR_061000  p.Glu525Lys    Polymorphism  rs1990312   -
AKAP4     Q5JQC9     VAR_027266  p.Ala673Gly    Polymorphism  rs12012704  -
AKAP4     Q5JQC9     VAR_048206  p.His233Arg    Polymorphism  rs17174078  -
AKAP5     P24588     VAR_056732  p.Pro100Leu    Polymorphism  rs2230491   -
AKAP5     P24588     VAR_056733  p.Glu314Lys    Polymorphism  rs34433837  -
AKAP5     P24588     VAR_060735  p.Thr203Ile    Polymorphism  rs1256149   -
AKAP6     Q13023     VAR_028171  p.Ala337Val    Polymorphism  rs3742926   -
AKAP6     Q13023     VAR_028172  p.Asn408Ser    Polymorphism  rs17099240  -
AKAP6     Q13023     VAR_028173  p.Ala1492Val   Polymorphism  rs11845640  -
AKAP6     Q13023     VAR_028174  p.Asn2035Asp   Polymorphism  rs1051695   -
AKAP6     Q13023     VAR_028175  p.Phe2171Tyr   Polymorphism  rs4647899   -
AKAP6     Q13023     VAR_028176  p.Asp2209His   Polymorphism  rs4402458   -
AKAP6     Q13023     VAR_035781  p.Lys910Met    Unclassified  -           A breast cancer sample
AKAP6     Q13023     VAR_035782  p.Met1192Ile   Unclassified  -           A breast cancer sample
AKAP6     Q13023     VAR_035783  p.Glu1702Gln   Unclassified  -           A breast cancer sample
AKAP6     Q13023     VAR_035784  p.Pro1839Thr   Unclassified  -           A colorectal cancer sample
AKAP6     Q13023     VAR_050653  p.Asn558Asp    Polymorphism  rs35210906  -
AKAP6     Q13023     VAR_050654  p.Glu892Lys    Polymorphism  rs34572259  -
AKAP6     Q13023     VAR_050655  p.Thr1516Ala   Polymorphism  rs17099587  -
AKAP6     Q13023     VAR_050656  p.Val1522Ile   Polymorphism  rs34711402  -
AKAP6     Q13023     VAR_050657  p.Glu2267Asp   Polymorphism  rs35977369  -
AKAP7     Q9P0M2     VAR_024246  p.Glu26Lys     Polymorphism  rs7771473   -
AKAP7     Q9P0M2     VAR_024247  p.Ser215Asn    Polymorphism  rs1190788   -
AKAP8L    Q9ULX6     VAR_068822  p.His458Gln    Polymorphism  rs2058322   -
AKAP8     O43823     VAR_036534  p.Gln664His    Unclassified  -           A breast cancer sample
AKAP9     Q99996     VAR_024249  p.Met475Ile    Polymorphism  rs6964587   -
AKAP9     Q99996     VAR_030162  p.Asn2804Ser   Polymorphism  rs6960867   -
AKAP9     Q99996     VAR_030163  p.Pro2983Ser   Polymorphism  rs1063242   -
AKAP9     Q99996     VAR_035785  p.Met2421Ile   Unclassified  -           A colorectal cancer sample
AKAP9     Q99996     VAR_035786  p.Glu3301Gln   Unclassified  -           A breast cancer sample
AKAP9     Q99996     VAR_043489  p.Ser1582Leu   Disease       -           Long QT syndrome 11 (LQT11) [MIM:611820]
AKAP9     Q99996     VAR_043490  p.Lys2496Arg   Polymorphism  rs35759833  -
AKAP9     Q99996     VAR_043491  p.Gln3448Arg   Polymorphism  rs34956633  -
AKAP9     Q99996     VAR_043492  p.Met3618Val   Polymorphism  rs34327395  -
AKIP1     Q9NQ31     VAR_021565  p.Arg23Lys     Polymorphism  rs1133833   -
AKIP1     Q9NQ31     VAR_050688  p.Ile132Thr    Polymorphism  rs35131475  -
AKNAD1    Q5T1N1     VAR_044198  p.Ser61Asn     Polymorphism  rs1277207   -
AKNAD1    Q5T1N1     VAR_044199  p.Ala104Val    Polymorphism  rs17621411  -
AKNAD1    Q5T1N1     VAR_044200  p.Glu167Gly    Polymorphism  rs17852793  -
AKNAD1    Q5T1N1     VAR_044201  p.His255Tyr    Polymorphism  rs9440631   -
AKNAD1    Q5T1N1     VAR_044202  p.Leu352Val    Polymorphism  rs11580913  -
AKNAD1    Q5T1N1     VAR_044203  p.Asn616Lys    Polymorphism  rs7551421   -
AKNAD1    Q5T1N1     VAR_044204  p.Cys654Tyr    Polymorphism  rs7522157   -
AKNAD1    Q5T1N1     VAR_061565  p.Gly582Val    Polymorphism  rs12060255  -
AKNA      Q7Z591     VAR_032586  p.Pro624Leu    Polymorphism  rs3748176   -
AKNA      Q7Z591     VAR_032587  p.Gln1097Arg   Polymorphism  rs1265891   -
AKNA      Q7Z591     VAR_032588  p.Arg1119Gln   Polymorphism  rs3748178   -
AKNA      Q7Z591     VAR_032589  p.Ser1303Pro   Polymorphism  rs2250242   -
AKNA      Q7Z591     VAR_032590  p.Tyr1327Cys   Polymorphism  rs2787344   -
AKR1A1    P14550     VAR_048212  p.Asn52Ser     Polymorphism  rs2229540   -
AKR1A1    P14550     VAR_058909  p.Glu55Asp     Polymorphism  rs6690497   -
AKR1B10   O60218     VAR_013287  p.Asn313Asp    Polymorphism  rs4728329   -
AKR1B10   O60218     VAR_020077  p.Pro87Ser     Polymorphism  rs2303312   -
AKR1B10   O60218     VAR_020078  p.Met286Thr    Polymorphism  rs3735042   -
AKR1B1    P15121     VAR_014743  p.Ile15Phe     Polymorphism  rs5054      -
AKR1B1    P15121     VAR_014744  p.His42Leu     Polymorphism  rs5056      -
AKR1B1    P15121     VAR_014745  p.Leu73Val     Polymorphism  rs5057      -
AKR1B1    P15121     VAR_014746  p.Gly204Ser    Polymorphism  rs5061      -
AKR1B1    P15121     VAR_014747  p.Thr288Ile    Polymorphism  rs5062      -
AKR1B1    P15121     VAR_048213  p.Lys90Glu     Polymorphism  rs2229542   -
AKR1C1    Q04828     VAR_048214  p.Arg170His    Polymorphism  rs17295755  -
AKR1C1    Q04828     VAR_048215  p.Gln172Leu    Polymorphism  rs17354444  -
AKR1C2    P52895     VAR_014748  p.Leu172Gln    Polymorphism  rs11474     -
AKR1C2    P52895     VAR_048216  p.Phe46Tyr     Polymorphism  rs2854482   -
AKR1C2    P52895     VAR_066632  p.Ile79Val     Disease       -           46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C2    P52895     VAR_066633  p.His90Gln     Disease       -           46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C2    P52895     VAR_066634  p.His222Gln    Disease       -           46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C2    P52895     VAR_066635  p.Asn300Thr    Disease       -           46,XY sex reversal 8 (SRXY8) [MIM:614279]
AKR1C3    P42330     VAR_013288  p.His5Gln      Polymorphism  rs12529     -
AKR1C3    P42330     VAR_013289  p.Met175Ile    Polymorphism  rs1131132   -
AKR1C3    P42330     VAR_032767  p.Arg66Gln     Polymorphism  rs35961894  -
AKR1C3    P42330     VAR_032768  p.Arg170Cys    Polymorphism  rs35575889  -
AKR1C3    P42330     VAR_032769  p.Pro180Ser    Polymorphism  rs34186955  -
AKR1C3    P42330     VAR_061001  p.Glu77Gly     Polymorphism  rs41306308  -
AKR1C4    P17516     VAR_013290  p.Ser145Cys    Polymorphism  rs3829125   -
AKR1C4    P17516     VAR_013291  p.Leu311Val    Polymorphism  rs17134592  -
AKR1C4    P17516     VAR_028240  p.Gly135Glu    Polymorphism  rs11253043  -
AKR1C4    P17516     VAR_028241  p.Cys170Tyr    Polymorphism  rs17851824  -
AKR1C4    P17516     VAR_028242  p.Gln250Arg    Polymorphism  rs4880718   -
AKR1CL1   Q5T2L2     VAR_032355  p.Arg50His     Polymorphism  rs7097295   -
AKR1D1    P51857     VAR_033007  p.Leu106Phe    Disease       -           Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1D1    P51857     VAR_033008  p.Pro198Leu    Disease       -           Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1D1    P51857     VAR_044430  p.Pro133Arg    Disease       -           Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1D1    P51857     VAR_044431  p.Arg261Cys    Disease       -           Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
AKR1E2    Q96JD6     VAR_032356  p.Cys52Gly     Polymorphism  rs35429729  -
AKR1E2    Q96JD6     VAR_032357  p.Lys86Arg     Polymorphism  rs17133693  -
AKR7A2    O43488     VAR_017413  p.Ala142Thr    Polymorphism  rs1043657   -
AKR7A2    O43488     VAR_017414  p.Gln157His    Polymorphism  rs859208    -
AKR7A2    O43488     VAR_017415  p.Cys214Tyr    Polymorphism  rs2235794   -
AKR7A2    O43488     VAR_048209  p.Val135Met    Polymorphism  rs6670759   -
AKR7A2    O43488     VAR_048210  p.Gly198Ser    Polymorphism  rs2231200   -
AKR7A2    O43488     VAR_048211  p.Ser255Asn    Polymorphism  rs2231203   -
AKR7A2    O43488     VAR_060222  p.Glu180Lys    Polymorphism  rs859210    -
AKR7A3    O95154     VAR_017416  p.Val138Met    Polymorphism  rs2231198   -
AKR7A3    O95154     VAR_017417  p.Asn215Asp    Polymorphism  rs1738023   -
AKR7A3    O95154     VAR_017418  p.Thr323Ala    Polymorphism  rs1738025   -
AKR7L     Q8NHP1     VAR_046190  p.Ala255Thr    Polymorphism  rs2235795   -
AKR7L     Q8NHP1     VAR_046191  p.Phe322Val    Polymorphism  rs2982534   -
AKT1      P31749     VAR_051617  p.Val167Ala    Polymorphism  rs11555433  -
AKT1      P31749     VAR_055422  p.Glu17Lys     Disease       rs121434592 Breast cancer (BC) [MIM:114480]
AKT1      P31749     VAR_055422  p.Glu17Lys     Disease       rs121434592 Proteus syndrome (PROTEUSS) [MIM:176920]
AKT1      P31749     VAR_069791  p.Arg25Cys     Unclassified  -           -
AKT1      P31749     VAR_069792  p.Thr435Pro    Unclassified  -           -
AKT1S1    Q96B36     VAR_028239  p.Ala47Pro     Polymorphism  rs17850191  -
AKT2      P31751     VAR_040356  p.Ile188Val    Polymorphism  rs55859611  -
AKT2      P31751     VAR_040357  p.Arg208Lys    Polymorphism  rs35817154  -
AKT2      P31751     VAR_067309  p.Glu17Lys     Disease       -           Hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) [MIM:240900]
AKT2      P31751     VAR_067310  p.Arg274His    Disease       -           Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
AKT3      Q9Y243     VAR_040358  p.Gly171Arg    Unclassified  -           A glioblastoma multiforme sample
AKT3      Q9Y243     VAR_065830  p.Glu17Lys     Disease       -           Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937]
AKT3      Q9Y243     VAR_069260  p.Asn229Ser    Disease       -           Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937]
AKT3      Q9Y243     VAR_069261  p.Arg465Trp    Disease       -           Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937]
ALAD      P13716     VAR_003633  p.Lys59Asn     Polymorphism  rs1800435   -
ALAD      P13716     VAR_003634  p.Gly133Arg    Disease       -           Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD      P13716     VAR_003635  p.Arg240Trp    Disease       -           Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD      P13716     VAR_003636  p.Ala274Thr    Disease       -           Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD      P13716     VAR_003637  p.Val275Met    Disease       -           Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAD      P13716     VAR_020973  p.Phe12Leu     Unclassified  -           -
ALAD      P13716     VAR_020974  p.Val153Met    Disease       -           Acute hepatic porphyria (AHEPP) [MIM:612740]
ALAS2     P22557     VAR_000562  p.Thr388Ser    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_000563  p.Arg411Cys    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_000564  p.Ile476Asn    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_012334  p.Tyr199His    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_012335  p.Arg204Gln    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_012336  p.Arg448Gln    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_012337  p.Arg452Cys    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_018604  p.Asp159Tyr    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_018605  p.Arg560His    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_066232  p.Lys156Glu    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_066233  p.Arg170His    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_066234  p.Arg218His    Disease       rs185504937 Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_066235  p.Glu242Lys    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_066236  p.Asp263Asn    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_066237  p.Pro339Leu    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_066238  p.Arg375Cys    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_066239  p.Arg411His    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_066240  p.Arg452Gly    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_066241  p.Arg452His    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_066242  p.Pro520Leu    Polymorphism  rs201062903 -
ALAS2     P22557     VAR_066243  p.Arg572His    Disease       -           Anemia, sideroblastic, X-linked (XLSA) [MIM:300751]
ALAS2     P22557     VAR_066244  p.Tyr586Phe    Polymorphism  rs139596860 -
ALB       P02768     VAR_000499  p.Arg23Cys     Unclassified  -           -
ALB       P02768     VAR_000500  p.Arg23His     Unclassified  -           -
ALB       P02768     VAR_000501  p.Arg24Leu     Unclassified  -           -
ALB       P02768     VAR_000502  p.Arg24Pro     Unclassified  -           -
ALB       P02768     VAR_000503  p.Arg24Gln     Unclassified  -           -
ALB       P02768     VAR_000504  p.Asp25Val     Unclassified  -           -
ALB       P02768     VAR_000505  p.His27Gln     Unclassified  -           -
ALB       P02768     VAR_000506  p.His27Tyr     Unclassified  -           -
ALB       P02768     VAR_000507  p.Glu84Lys     Unclassified  -           -
ALB       P02768     VAR_000508  p.Asp87Asn     Unclassified  -           -
ALB       P02768     VAR_000509  p.Glu106Lys    Unclassified  -           -
ALB       P02768     VAR_000510  p.Arg138Gly    Unclassified  -           -
ALB       P02768     VAR_000511  p.Glu143Lys    Unclassified  -           -
ALB       P02768     VAR_000512  p.His152Arg    Unclassified  -           -
ALB       P02768     VAR_000513  p.Cys201Phe    Unclassified  -           -
ALB       P02768     VAR_000514  p.Arg242His    Unclassified  -           -
ALB       P02768     VAR_000515  p.Lys249Gln    Unclassified  -           -
ALB       P02768     VAR_000516  p.Lys264Glu    Unclassified  -           -
ALB       P02768     VAR_000517  p.Gln292Arg    Unclassified  -           -
ALB       P02768     VAR_000518  p.Asp293Gly    Unclassified  -           -
ALB       P02768     VAR_000519  p.Lys300Asn    Unclassified  -           -
ALB       P02768     VAR_000520  p.Lys337Asn    Unclassified  -           -
ALB       P02768     VAR_000521  p.Asn342Lys    Unclassified  -           -
ALB       P02768     VAR_000522  p.Ala344Thr    Unclassified  -           -
ALB       P02768     VAR_000523  p.Glu345Lys    Unclassified  -           -
ALB       P02768     VAR_000524  p.Glu357Lys    Unclassified  -           -
ALB       P02768     VAR_000525  p.Glu378Lys    Unclassified  -           -
ALB       P02768     VAR_000526  p.Glu382Lys    Unclassified  -           -
ALB       P02768     VAR_000527  p.Asp389His    Unclassified  -           -
ALB       P02768     VAR_000528  p.Asp389Val    Unclassified  -           -
ALB       P02768     VAR_000529  p.Lys396Glu    Unclassified  -           -
ALB       P02768     VAR_000530  p.Asp399Asn    Unclassified  -           -
ALB       P02768     VAR_000531  p.Glu400Lys    Unclassified  -           -
ALB       P02768     VAR_000532  p.Glu400Gln    Unclassified  -           -
ALB       P02768     VAR_000533  p.Glu406Lys    Unclassified  -           -
ALB       P02768     VAR_000534  p.Glu503Lys    Unclassified  -           -
ALB       P02768     VAR_000535  p.Asp518Asn    Unclassified  -           -
ALB       P02768     VAR_000536  p.Glu525Lys    Unclassified  -           -
ALB       P02768     VAR_000537  p.Glu529Lys    Unclassified  -           -
ALB       P02768     VAR_000538  p.Lys560Glu    Unclassified  -           -
ALB       P02768     VAR_000539  p.Lys565Glu    Unclassified  -           -
ALB       P02768     VAR_000540  p.Asp574Gly    Unclassified  -           -
ALB       P02768     VAR_000541  p.Asp574Ala    Unclassified  -           -
ALB       P02768     VAR_000542  p.Asp587Asn    Unclassified  -           -
ALB       P02768     VAR_000543  p.Glu589Lys    Unclassified  -           -
ALB       P02768     VAR_000544  p.Glu594Lys    Unclassified  -           -
ALB       P02768     VAR_000545  p.Lys597Glu    Unclassified  -           -
ALB       P02768     VAR_000546  p.Lys598Asn    Unclassified  -           -
ALB       P02768     VAR_010657  p.Phe73Tyr     Polymorphism  -           -
ALB       P02768     VAR_013011  p.Leu90Pro     Unclassified  -           -
ALB       P02768     VAR_013012  p.Val146Glu    Unclassified  -           -
ALB       P02768     VAR_013013  p.Arg242Pro    Unclassified  -           -
ALB       P02768     VAR_013014  p.Asp338Gly    Unclassified  -           -
ALB       P02768     VAR_013015  p.Asp338Val    Unclassified  -           -
ALB       P02768     VAR_013016  p.Lys383Asn    Unclassified  -           -
ALB       P02768     VAR_013017  p.Arg434Cys    Unclassified  -           -
ALB       P02768     VAR_013018  p.Val557Met    Polymorphism  rs78284052  -
ALB       P02768     VAR_013019  p.Lys584Glu    Unclassified  -           -
ALB       P02768     VAR_014290  p.Glu121Gly    Polymorphism  -           -
ALB       P02768     VAR_014291  p.Ala215Thr    Polymorphism  rs3210154   -
ALB       P02768     VAR_014292  p.Ala215Val    Polymorphism  rs3204504   -
ALB       P02768     VAR_014293  p.Gln220Leu    Polymorphism  rs3210163   -
ALB       P02768     VAR_014294  p.Glu420Lys    Polymorphism  -           -
ALB       P02768     VAR_014295  p.Lys490Glu    Polymorphism  rs1063469   -
ALCAM     Q13740     VAR_003907  p.Asn258Ser    Polymorphism  rs1044240   -
ALCAM     Q13740     VAR_003908  p.Thr301Met    Polymorphism  rs1044243   -
ALCAM     Q13740     VAR_029514  p.Gly229Asp    Polymorphism  rs10933819  -
ALCAM     Q13740     VAR_029515  p.Leu315Met    Polymorphism  rs12629872  -
ALCAM     Q13740     VAR_029516  p.Val352Met    Polymorphism  rs2291375   -
ALCAM     Q13740     VAR_049856  p.Met367Ile    Polymorphism  rs34926152  -
ALDH16A1  Q8IZ83     VAR_037638  p.Glu110Lys    Polymorphism  rs3745312   -
ALDH16A1  Q8IZ83     VAR_037639  p.Leu227Val    Polymorphism  rs1320303   -
ALDH18A1  P54886     VAR_038482  p.Arg84Gln     Disease       -           Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
ALDH18A1  P54886     VAR_051792  p.Thr299Ile    Polymorphism  rs2275272   -
ALDH18A1  P54886     VAR_051793  p.Ser372Tyr    Polymorphism  rs3765571   -
ALDH18A1  P54886     VAR_058006  p.His784Tyr    Disease       -           Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
ALDH1A1   P00352     VAR_017778  p.Ile177Phe    Polymorphism  rs8187929   -
ALDH1A1   P00352     VAR_048901  p.Asn121Ser    Polymorphism  rs1049981   -
ALDH1A1   P00352     VAR_048902  p.Gly125Arg    Polymorphism  rs11554423  -
ALDH1A2   O94788     VAR_025439  p.Glu50Gly     Polymorphism  rs34266719  -
ALDH1A2   O94788     VAR_025440  p.Ala110Val    Polymorphism  rs35365164  -
ALDH1A2   O94788     VAR_025441  p.Val348Ile    Polymorphism  rs4646626   -
ALDH1A2   O94788     VAR_025442  p.Glu436Lys    Polymorphism  rs34744827  -
ALDH1A3   P47895     VAR_019706  p.Met386Val    Polymorphism  rs3803430   -
ALDH1A3   P47895     VAR_069322  p.Arg89Cys     Disease       -           Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
ALDH1A3   P47895     VAR_069323  p.Ala145Val    Disease       -           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       -           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  -           A colorectal cancer sample
ALDH1L1   O75891     VAR_052290  p.Leu254Pro    Polymorphism  rs3796191   -
ALDH1L1   O75891     VAR_052291  p.Val330Phe    Polymorphism  rs2886059   -
ALDH1L1   O75891     VAR_052292  p.Glu429Ala    Polymorphism  rs9282691   -
ALDH1L1   O75891     VAR_052293  p.Ala436Thr    Polymorphism  rs9282692   -
ALDH1L1   O75891     VAR_052294  p.Ala436Val    Polymorphism  rs9282693   -
ALDH1L1   O75891     VAR_052295  p.Ser448Asn    Polymorphism  rs9282697   -
ALDH1L1   O75891     VAR_052296  p.Ser481Gly    Polymorphism  rs2276724   -
ALDH1L1   O75891     VAR_052297  p.Asp793Gly    Polymorphism  rs1127717   -
ALDH1L1   O75891     VAR_052298  p.Glu803Lys    Polymorphism  rs9282689   -
ALDH1L1   O75891     VAR_052299  p.Ile812Val    Polymorphism  rs4646750   -
ALDH2     P05091     VAR_002248  p.Glu504Lys    Polymorphism  rs671       -
ALDH2     P05091     VAR_011302  p.Glu496Lys    Polymorphism  -           -
ALDH2     P05091     VAR_011869  p.Glu337Val    Polymorphism  rs1062136   -
ALDH3A1   P30838     VAR_011303  p.Pro329Ala    Polymorphism  rs2228100   -
ALDH3A1   P30838     VAR_018981  p.Ser134Ala    Polymorphism  rs887241    -
ALDH3A1   P30838     VAR_018982  p.Gly309Glu    Polymorphism  rs3744692   -
ALDH3A2   P51648     VAR_002249  p.Leu106Arg    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002250  p.Cys214Tyr    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002251  p.Cys226Trp    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002252  p.Asp245Asn    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002254  p.Pro315Ser    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002255  p.Ser365Leu    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_002256  p.Gly412Arg    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017510  p.Ile45Phe     Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017511  p.Val64Asp     Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017512  p.Pro114Leu    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017513  p.Pro121Leu    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017514  p.Thr184Met    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017515  p.Thr184Arg    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017516  p.Gly185Ala    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017517  p.Arg228Cys    Disease       rs72547566  Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017518  p.Cys237Tyr    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017519  p.Lys266Asn    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017520  p.Tyr279Asn    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017521  p.Met328Ile    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017522  p.Asn386Ser    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017523  p.Gly406Arg    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017524  p.His411Tyr    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017525  p.Ser415Asn    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017526  p.Phe419Ser    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017527  p.Arg423His    Disease       -           Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2   P51648     VAR_017528  p.Lys447Glu    Disease       rs67939114  Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3B2   P48448     VAR_022058  p.Ala50Thr     Polymorphism  rs3741178   -
ALDH3B2   P48448     VAR_055699  p.Ser302Arg    Polymorphism  rs4646826   -
ALDH3B2   P48448     VAR_058696  p.Ser52Asn     Polymorphism  rs1551888   -
ALDH3B2   P48448     VAR_058697  p.His203Arg    Polymorphism  rs6591270   -
ALDH3B2   P48448     VAR_058698  p.Ser220Gly    Polymorphism  rs2447571   -
ALDH3B2   P48448     VAR_058699  p.Arg276Trp    Polymorphism  rs17856219  -
ALDH3B2   P48448     VAR_058700  p.His361Arg    Polymorphism  rs1551886   -
ALDH4A1   P30038     VAR_002259  p.Pro16Leu     Polymorphism  rs146450609 -
ALDH4A1   P30038     VAR_002260  p.Ser352Leu    Disease       -           Hyperprolinemia 2 (HP-2) [MIM:239510]
ALDH4A1   P30038     VAR_029337  p.Val470Ile    Polymorphism  rs2230709   -
ALDH4A1   P30038     VAR_048903  p.Thr473Ala    Polymorphism  rs6695033   -
ALDH5A1   P51649     VAR_016758  p.His180Tyr    Polymorphism  rs2760118   -
ALDH5A1   P51649     VAR_016759  p.Pro182Leu    Polymorphism  rs3765310   -
ALDH5A1   P51649     VAR_026199  p.Cys93Phe     Disease       -           Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
ALDH5A1   P51649     VAR_026200  p.Gly176Arg    Disease       -           Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
ALDH5A1   P51649     VAR_026201  p.Cys223Tyr    Disease       -           Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
ALDH5A1   P51649     VAR_026202  p.Thr233Met    Disease       -           Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
ALDH5A1   P51649     VAR_026203  p.Asn255Ser    Disease       -           Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
ALDH5A1   P51649     VAR_026204  p.Gly268Glu    Disease       -           Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
ALDH5A1   P51649     VAR_026205  p.Asn335Lys    Disease       -           Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
ALDH5A1   P51649     VAR_026206  p.Pro382Leu    Disease       -           Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
ALDH5A1   P51649     VAR_026207  p.Pro382Gln    Disease       -           Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
ALDH5A1   P51649     VAR_026208  p.Gly409Asp    Disease       -           Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
ALDH5A1   P51649     VAR_026209  p.Val487Glu    Disease       -           Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
ALDH5A1   P51649     VAR_026210  p.Gly533Arg    Disease       -           Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
ALDH5A1   P51649     VAR_026227  p.Gly36Arg     Polymorphism  rs4646832   -
ALDH5A1   P51649     VAR_026228  p.Ala237Ser    Polymorphism  rs62621664  -
ALDH5A1   P51649     VAR_026229  p.Val406Ile    Polymorphism  -           -
ALDH5A1   P51649     VAR_069047  p.Asn372Ser    Polymorphism  -           -
ALDH6A1   Q02252     VAR_010244  p.Gly446Arg    Disease       -           Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105]
ALDH7A1   P49419     VAR_028202  p.Thr412Ala    Polymorphism  rs2306618   -
ALDH7A1   P49419     VAR_028203  p.Lys439Gln    Polymorphism  rs12514417  -
ALDH7A1   P49419     VAR_031718  p.Ala199Val    Disease       -           Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1   P49419     VAR_031719  p.Glu427Gln    Disease       rs121912707 Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1   P49419     VAR_069184  p.Gly202Val    Disease       -           Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1   P49419     VAR_069185  p.Gly291Glu    Disease       -           Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1   P49419     VAR_069186  p.Asn301Ile    Disease       -           Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1   P49419     VAR_069187  p.Arg335Gln    Disease       -           Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1   P49419     VAR_069188  p.Val395Gly    Disease       -           Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1   P49419     VAR_069189  p.Ser458Asn    Disease       -           Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH8A1   Q9H2A2     VAR_037618  p.Phe402Ser    Polymorphism  rs2294315   -
ALDH9A1   P49189     VAR_011304  p.Cys116Ser    Polymorphism  -           -
ALDOA     P04075     VAR_000550  p.Asp129Gly    Disease       -           Glycogen storage disease 12 (GSD12) [MIM:611881]
ALDOA     P04075     VAR_044142  p.Glu207Lys    Disease       -           Glycogen storage disease 12 (GSD12) [MIM:611881]
ALDOA     P04075     VAR_044143  p.Cys339Tyr    Disease       -           Glycogen storage disease 12 (GSD12) [MIM:611881]
ALDOA     P04075     VAR_044144  p.Gly347Ser    Disease       rs138824667 Glycogen storage disease 12 (GSD12) [MIM:611881]
ALDOA     P04075     VAR_048219  p.Glu82Gln     Polymorphism  rs11553107  -
ALDOA     P04075     VAR_048220  p.Gly142Val    Polymorphism  rs11553108  -
ALDOB     P05062     VAR_000551  p.Cys135Arg    Disease       -           Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB     P05062     VAR_000552  p.Trp148Arg    Unclassified  -           -
ALDOB     P05062     VAR_000553  p.Ala150Pro    Disease       rs1800546   Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB     P05062     VAR_000554  p.Ala175Asp    Disease       rs76917243  Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB     P05062     VAR_000555  p.Leu257Pro    Disease       -           Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB     P05062     VAR_000556  p.Arg304Trp    Disease       -           Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB     P05062     VAR_000557  p.Asn335Lys    Disease       -           Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB     P05062     VAR_000558  p.Ala338Val    Disease       -           Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB     P05062     VAR_020822  p.Ile74Thr     Disease       -           Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB     P05062     VAR_020824  p.Pro185Arg    Disease       -           Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB     P05062     VAR_020825  p.Glu207Gln    Polymorphism  rs3739721   -
ALDOB     P05062     VAR_020826  p.Val222Phe    Disease       -           Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB     P05062     VAR_020827  p.Leu229Pro    Disease       -           Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB     P05062     VAR_020828  p.Arg304Gln    Disease       rs145078268 Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB     P05062     VAR_038429  p.Arg134Ser    Polymorphism  rs10123355  -
ALDOB     P05062     VAR_038430  p.Ile268Asn    Polymorphism  rs10989495  -
ALDOB     P05062     VAR_058211  p.Cys178Arg    Disease       -           Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB     P05062     VAR_058212  p.Leu284Pro    Disease       -           Hereditary fructose intolerance (HFI) [MIM:229600]
ALG10B    Q5I7T1     VAR_023753  p.Ile446Val    Polymorphism  rs61730283  -
ALG10B    Q5I7T1     VAR_048217  p.Ala84Gly     Polymorphism  rs6582584   -
ALG10B    Q5I7T1     VAR_061002  p.Ser383Asn    Polymorphism  rs57963306  -
ALG11     Q2TAA5     VAR_055902  p.Asn108Ser    Polymorphism  rs17480245  -
ALG11     Q2TAA5     VAR_064908  p.Leu86Ser     Disease       -           Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
ALG11     Q2TAA5     VAR_068070  p.Tyr279Ser    Disease       -           Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
ALG11     Q2TAA5     VAR_068071  p.Gln318Pro    Disease       -           Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
ALG11     Q2TAA5     VAR_068072  p.Leu381Ser    Disease       -           Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
ALG11     Q2TAA5     VAR_068073  p.Glu398Lys    Disease       -           Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
ALG12     Q9BV10     VAR_017904  p.Thr67Met     Disease       -           Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
ALG12     Q9BV10     VAR_017905  p.Phe142Val    Disease       rs28942090  Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
ALG12     Q9BV10     VAR_017906  p.Arg146Gln    Disease       -           Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
ALG12     Q9BV10     VAR_017907  p.Leu158Pro    Disease       -           Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
ALG12     Q9BV10     VAR_024466  p.Ile393Val    Polymorphism  rs3922872   -
ALG12     Q9BV10     VAR_038428  p.Gly101Arg    Disease       -           Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
ALG13     Q9NP73     VAR_069218  p.Lys94Glu     Disease       -           Congenital disorder of glycosylation 1S (CDG1S) [MIM:300884]
ALG13     Q9NP73     VAR_069412  p.Asn107Ser    Polymorphism  -           -
ALG14     Q96F25     VAR_029635  p.Val14Met     Polymorphism  rs11165298  -
ALG1L     Q6GMV1     VAR_039962  p.Asn135Asp    Polymorphism  rs3828357   -
ALG1L     Q6GMV1     VAR_039963  p.Ile159Thr    Polymorphism  rs3811679   -
ALG1L     Q6GMV1     VAR_039964  p.Gly184Ser    Polymorphism  rs3187686   -
ALG1      Q9BT22     VAR_023364  p.Ser150Arg    Disease       rs121908340 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
ALG1      Q9BT22     VAR_023365  p.Ser258Leu    Disease       rs28939378  Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
ALG1      Q9BT22     VAR_023366  p.Gln342Pro    Disease       -           Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]
ALG1      Q9BT22     VAR_023367  p.Asp429Glu    Polymorphism  rs9745522   -
ALG1      Q9BT22     VAR_038425  p.Ser267Asn    Polymorphism  rs17849848  -
ALG1      Q9BT22     VAR_038426  p.Leu325Met    Polymorphism  rs17852920  -
ALG1      Q9BT22     VAR_038427  p.Gln455Arg    Polymorphism  rs17856919  -
ALG1      Q9BT22     VAR_049350  p.Arg438Trp    Polymorphism  rs16835020  -
ALG2      Q9H553     VAR_049351  p.Ser11Pro     Polymorphism  rs11545137  -
ALG2      Q9H553     VAR_049352  p.Val367Ala    Polymorphism  rs35626507  -
ALG3      Q92685     VAR_010306  p.Gly118Asp    Disease       rs28940588  Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110]
ALG3      Q92685     VAR_037805  p.Ile107Val    Polymorphism  rs2233463   -
ALG3      Q92685     VAR_037806  p.Arg171Gln    Disease       -           Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110]
ALG6      Q9Y672     VAR_013442  p.Phe304Ser    Polymorphism  rs4630153   -
ALG6      Q9Y672     VAR_013443  p.Ala333Val    Disease       -           Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
ALG6      Q9Y672     VAR_013444  p.Ser478Pro    Disease       -           Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
ALG6      Q9Y672     VAR_022511  p.Tyr131His    Disease       rs35383149  Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
ALG6      Q9Y672     VAR_022512  p.Ser170Ile    Disease       -           Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
ALG6      Q9Y672     VAR_022513  p.Gly227Glu    Disease       -           Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
ALG6      Q9Y672     VAR_022514  p.Ser308Arg    Disease       -           Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
ALG6      Q9Y672     VAR_055493  p.Lys226Asn    Polymorphism  rs35604168  -
ALG8      Q9BVK2     VAR_023480  p.Thr47Pro     Disease       -           Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]
ALG8      Q9BVK2     VAR_023481  p.Asn222Ser    Polymorphism  rs665278    -
ALG8      Q9BVK2     VAR_023482  p.Gly275Asp    Disease       -           Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]
ALG8      Q9BVK2     VAR_031596  p.Ile439Thr    Polymorphism  rs17825668  -
ALG9      Q9H6U8     VAR_023410  p.Tyr287Cys    Disease       -           Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776]
ALG9      Q9H6U8     VAR_023411  p.Val289Ile    Polymorphism  rs10502151  -
ALG9      Q9H6U8     VAR_023412  p.Pro506Leu    Polymorphism  -           -
ALG9      Q9H6U8     VAR_023413  p.Glu523Lys    Disease       -           Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776]
ALG9      Q9H6U8     VAR_049221  p.Ala232Pro    Polymorphism  rs36111204  -
ALG9      Q9H6U8     VAR_049222  p.Ser255Leu    Polymorphism  rs17113312  -
ALG9      Q9H6U8     VAR_049223  p.Ile528Ser    Polymorphism  rs12575909  -
ALKBH1    Q13686     VAR_048221  p.Met135Ile    Polymorphism  rs17825440  -
ALKBH1    Q13686     VAR_048222  p.Met324Leu    Polymorphism  rs6494      -
ALKBH2    Q6NS38     VAR_048223  p.Arg203His    Polymorphism  rs33962311  -
ALKBH3    Q96Q83     VAR_026631  p.Asp228Glu    Polymorphism  rs2434470   -
ALKBH3    Q96Q83     VAR_026632  p.Arg164Cys    Polymorphism  rs2271815   -
ALKBH4    Q9NXW9     VAR_061004  p.Ala247Val    Polymorphism  rs41275227  -
ALKBH7    Q9BT30     VAR_048224  p.Arg191Gln    Polymorphism  rs7540      -
ALK       Q9UM73     VAR_031042  p.Ile1461Val   Polymorphism  rs1670283   -
ALK       Q9UM73     VAR_031043  p.Lys1491Arg   Polymorphism  rs1881420   -
ALK       Q9UM73     VAR_031044  p.Asp1529Glu   Polymorphism  rs1881421   -
ALK       Q9UM73     VAR_041477  p.Ser90Leu     Polymorphism  rs34617074  -
ALK       Q9UM73     VAR_041478  p.Val163Leu    Polymorphism  rs55697431  -
ALK       Q9UM73     VAR_041479  p.Glu296Gln    Polymorphism  rs56077855  -
ALK       Q9UM73     VAR_041480  p.Val476Ala    Polymorphism  rs35093491  -
ALK       Q9UM73     VAR_041481  p.Leu560Phe    Unclassified  -           A breast pleomorphic lobular carcinoma sample
ALK       Q9UM73     VAR_041482  p.Thr680Ile    Polymorphism  rs35228363  -
ALK       Q9UM73     VAR_041483  p.Ala704Thr    Polymorphism  rs34829159  -
ALK       Q9UM73     VAR_041484  p.Ala877Ser    Unclassified  -           An ovarian serous carcinoma sample
ALK       Q9UM73     VAR_041485  p.Thr1012Met   Polymorphism  rs35073634  -
ALK       Q9UM73     VAR_041486  p.Gly1121Asp   Polymorphism  rs55760835  -
ALK       Q9UM73     VAR_041487  p.Ala1274Thr   Polymorphism  rs45502292  -
ALK       Q9UM73     VAR_041488  p.Met1328Leu   Polymorphism  rs56160491  -
ALK       Q9UM73     VAR_041489  p.Lys1416Asn   Polymorphism  rs55782189  -
ALK       Q9UM73     VAR_041490  p.Glu1419Lys   Polymorphism  rs56181542  -
ALK       Q9UM73     VAR_041491  p.Gln1429Arg   Polymorphism  rs55906201  -
ALK       Q9UM73     VAR_055987  p.Phe1376Ser   Polymorphism  rs17694720  -
ALK       Q9UM73     VAR_055988  p.Pro1599His   Polymorphism  rs1881423   -
ALK       Q9UM73     VAR_061288  p.Leu868Gln    Polymorphism  rs55941323  -
ALK       Q9UM73     VAR_063850  p.Asp1091Asn   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063851  p.Gly1128Ala   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063852  p.Thr1151Met   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063853  p.Met1166Arg   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063854  p.Ile1171Asn   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063855  p.Phe1174Cys   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063856  p.Phe1174Ile   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063857  p.Phe1174Leu   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063858  p.Phe1174Val   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063859  p.Arg1192Pro   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063860  p.Ala1234Thr   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063861  p.Phe1245Cys   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063862  p.Phe1245Val   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063863  p.Ile1250Thr   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063864  p.Arg1275Leu   Unclassified  -           -
ALK       Q9UM73     VAR_063865  p.Arg1275Gln   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALK       Q9UM73     VAR_063866  p.Tyr1278Ser   Disease       -           Neuroblastoma 3 (NBLST3) [MIM:613014]
ALMS1P    Q96L16     VAR_039260  p.Asn52Ser     Polymorphism  rs11885953  -
ALMS1     Q8TCU4     VAR_025433  p.Val671Gly    Polymorphism  rs2037814   -
ALMS1     Q8TCU4     VAR_025434  p.Ser2111Arg   Polymorphism  rs6724782   -
ALMS1     Q8TCU4     VAR_025435  p.Ser2574Asn   Polymorphism  rs3820700   -
ALMS1     Q8TCU4     VAR_025436  p.Asp2672His   Polymorphism  rs2017116   -
ALMS1     Q8TCU4     VAR_056734  p.Gly1412Ala   Polymorphism  rs6546837   -
ALMS1     Q8TCU4     VAR_059575  p.Ile1875Val   Polymorphism  rs6546838   -
ALMS1     Q8TCU4     VAR_059576  p.Arg2284Pro   Polymorphism  rs6546839   -
ALMS1     Q8TCU4     VAR_059577  p.Asn2856Ser   Polymorphism  rs10193972  -
ALMS1     Q8TCU4     VAR_059578  p.Lys3434Glu   Polymorphism  rs34071195  -
ALOX12B   O75342     VAR_015173  p.Leu426Pro    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_015174  p.His578Gln    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_050000  p.Gly94Ser     Polymorphism  rs8077661   -
ALOX12B   O75342     VAR_069545  p.Leu24Pro     Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069546  p.Ile67Phe     Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069547  p.Arg114Trp    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069548  p.Pro127Ser    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069549  p.Phe195Leu    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069550  p.Tyr318Cys    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069551  p.Lys382Glu    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069552  p.Thr383Met    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069553  p.Asn416Lys    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069554  p.Gly462Asp    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069555  p.Arg488His    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069556  p.Tyr521Cys    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069557  p.Val527Met    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069558  p.Ala597Glu    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069559  p.Ala664Pro    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12B   O75342     VAR_069560  p.Arg679Leu    Disease       -           Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
ALOX12    P18054     VAR_004279  p.Ala298Thr    Polymorphism  -           -
ALOX12    P18054     VAR_018743  p.Gln261Arg    Polymorphism  rs1126667   -
ALOX12    P18054     VAR_018744  p.Asn322Ser    Polymorphism  rs434473    -
ALOX12    P18054     VAR_018745  p.Arg430His    Polymorphism  rs11571342  -
ALOX12    P18054     VAR_030471  p.Glu259Lys    Polymorphism  rs4987104   -
ALOX15B   O15296     VAR_024524  p.Gln656Arg    Polymorphism  rs4792147   -
ALOX15B   O15296     VAR_024525  p.Ile676Val    Polymorphism  rs7225107   -
ALOX15B   O15296     VAR_061334  p.Arg486His    Polymorphism  rs9895916   -
ALOX15    P16050     VAR_018746  p.Asp90His     Polymorphism  rs11568142  -
ALOX15    P16050     VAR_018747  p.Asn103Lys    Polymorphism  rs11568099  -
ALOX15    P16050     VAR_018748  p.Arg205Gln    Polymorphism  rs11568101  -
ALOX15    P16050     VAR_035036  p.Gly102Val    Polymorphism  rs41439950  -
ALOX15    P16050     VAR_035037  p.Val239Met    Polymorphism  rs3892408   -
ALOX15    P16050     VAR_035038  p.Ala461Pro    Polymorphism  rs17852628  -
ALOX15    P16050     VAR_035039  p.Thr560Met    Polymorphism  rs34210653  -
ALOX5     P09917     VAR_028018  p.Glu254Lys    Polymorphism  rs2228065   -
ALOXE3    Q9BYJ1     VAR_015175  p.Arg396Ser    Disease       -           Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
ALOXE3    Q9BYJ1     VAR_015176  p.Val500Phe    Disease       -           Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
ALOXE3    Q9BYJ1     VAR_069561  p.Leu237Met    Disease       -           Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
ALOXE3    Q9BYJ1     VAR_069562  p.Gly281Val    Disease       -           Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
ALOXE3    Q9BYJ1     VAR_069564  p.Leu427Pro    Disease       -           Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
ALOXE3    Q9BYJ1     VAR_069565  p.Pro630Leu    Disease       -           Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
ALPI      P09923     VAR_011816  p.His298Leu    Polymorphism  rs1047223   -
ALPI      P09923     VAR_050524  p.Arg144His    Polymorphism  rs7559279   -
ALPK1     Q96QP1     VAR_028982  p.Asn175Asp    Polymorphism  rs6533616   -
ALPK1     Q96QP1     VAR_028983  p.Gly565Asp    Polymorphism  rs2074388   -
ALPK1     Q96QP1     VAR_028984  p.His642Arg    Polymorphism  rs13148353  -
ALPK1     Q96QP1     VAR_028985  p.Met732Ile    Polymorphism  rs2074379   -
ALPK1     Q96QP1     VAR_028986  p.Met861Thr    Polymorphism  rs11726117  -
ALPK1     Q96QP1     VAR_028987  p.Gly870Ser    Polymorphism  rs2074380   -
ALPK1     Q96QP1     VAR_028988  p.Asn916Asp    Polymorphism  rs2074381   -
ALPK1     Q96QP1     VAR_041511  p.Gln67Arg     Polymorphism  rs33943680  -
ALPK1     Q96QP1     VAR_041512  p.Thr292Met    Polymorphism  rs34120296  -
ALPK1     Q96QP1     VAR_041513  p.Leu320Met    Polymorphism  -           -
ALPK1     Q96QP1     VAR_041514  p.Lys339Glu    Unclassified  -           An ovarian mucinous carcinoma sample
ALPK1     Q96QP1     VAR_041515  p.Lys383Glu    Polymorphism  rs147641444 -
ALPK1     Q96QP1     VAR_041516  p.Pro660Leu    Polymorphism  rs35389530  -
ALPK1     Q96QP1     VAR_041517  p.Gly681Asp    Polymorphism  rs35519493  -
ALPK1     Q96QP1     VAR_041518  p.Arg873Ile    Polymorphism  rs34946272  -
ALPK1     Q96QP1     VAR_041519  p.Glu910Asp    Polymorphism  rs35308602  -
ALPK1     Q96QP1     VAR_041520  p.Pro935Leu    Polymorphism  rs34780600  -
ALPK1     Q96QP1     VAR_041521  p.Arg1084Gln   Polymorphism  rs34677416  -
ALPK1     Q96QP1     VAR_041522  p.Leu1117Pro   Polymorphism  rs35756863  -
ALPK1     Q96QP1     VAR_041523  p.Ala1160Gly   Polymorphism  rs55696324  -
ALPK1     Q96QP1     VAR_057741  p.His1008Pro   Polymorphism  rs34079946  -
ALPK2     Q86TB3     VAR_045591  p.Glu942Lys    Unclassified  -           An ovarian undifferentiated carcinoma sample
ALPK2     Q86TB3     VAR_045593  p.Leu1296Val   Polymorphism  rs3809976   -
ALPK2     Q86TB3     VAR_045594  p.Lys1476Thr   Unclassified  -           A melanoma metastatic sample
ALPK2     Q86TB3     VAR_045595  p.Glu1969Lys   Polymorphism  rs17065127  -
ALPK2     Q86TB3     VAR_054914  p.Lys2Thr      Polymorphism  rs6566987   -
ALPK2     Q86TB3     VAR_054915  p.Arg136Ser    Polymorphism  rs9944810   -
ALPK2     Q86TB3     VAR_054916  p.His719Gln    Polymorphism  rs12103986  -
ALPK2     Q86TB3     VAR_054917  p.Gly810Ser    Polymorphism  rs3809970   -
ALPK2     Q86TB3     VAR_054918  p.Arg825Thr    Polymorphism  rs3809972   -
ALPK2     Q86TB3     VAR_054919  p.Lys829Asn    Polymorphism  rs3809973   -
ALPK2     Q86TB3     VAR_054920  p.Ser884Leu    Polymorphism  rs3809974   -
ALPK2     Q86TB3     VAR_054921  p.Thr891Ile    Polymorphism  rs3826593   -
ALPK2     Q86TB3     VAR_054922  p.Asn916Lys    Polymorphism  rs4940404   -
ALPK2     Q86TB3     VAR_054923  p.Ser977Thr    Polymorphism  rs3809975   -
ALPK2     Q86TB3     VAR_054924  p.Leu1057Val   Polymorphism  rs3809976   -
ALPK2     Q86TB3     VAR_054925  p.Lys1134Asn   Polymorphism  rs35791514  -
ALPK2     Q86TB3     VAR_054926  p.His1174Pro   Polymorphism  rs3809977   -
ALPK2     Q86TB3     VAR_054927  p.Pro1449Ser   Polymorphism  rs3809982   -
ALPK2     Q86TB3     VAR_054928  p.Ala1551Ser   Polymorphism  rs3809983   -
ALPK2     Q86TB3     VAR_054929  p.Gln1579Arg   Polymorphism  rs33910491  -
ALPK2     Q86TB3     VAR_054930  p.Lys1729Glu   Polymorphism  rs34409558  -
ALPK2     Q86TB3     VAR_054931  p.Lys1730Glu   Polymorphism  rs17065127  -
ALPK2     Q86TB3     VAR_054932  p.His1767Tyr   Polymorphism  rs7234999   -
ALPK2     Q86TB3     VAR_054933  p.Ile2157Val   Polymorphism  rs7240666   -
ALPK2     Q86TB3     VAR_057742  p.Arg1884Cys   Polymorphism  rs33969768  -
ALPK2     Q86TB3     VAR_062168  p.Gly1063Val   Polymorphism  rs34347938  -
ALPK3     Q96L96     VAR_028989  p.Thr414Ser    Polymorphism  rs3803403   -
ALPK3     Q96L96     VAR_028990  p.Gly579Glu    Polymorphism  rs3803405   -
ALPK3     Q96L96     VAR_028991  p.Thr761Met    Polymorphism  rs16974569  -
ALPK3     Q96L96     VAR_028992  p.Pro1299Leu   Polymorphism  rs306197    -
ALPK3     Q96L96     VAR_028993  p.Leu1622Pro   Polymorphism  rs187316    -
ALPK3     Q96L96     VAR_041524  p.Arg336His    Polymorphism  rs34407151  -
ALPK3     Q96L96     VAR_041525  p.Thr338Ile    Polymorphism  rs56015306  -
ALPK3     Q96L96     VAR_041526  p.Gln433Glu    Unclassified  -           A lung large cell carcinoma sample
ALPK3     Q96L96     VAR_041527  p.Gln602Arg    Polymorphism  rs55702300  -
ALPK3     Q96L96     VAR_041528  p.Gly663Asp    Polymorphism  rs34409363  -
ALPK3     Q96L96     VAR_041529  p.Arg836Leu    Polymorphism  -           -
ALPK3     Q96L96     VAR_041530  p.Glu929Asp    Polymorphism  -           -
ALPK3     Q96L96     VAR_041531  p.Gly1364Glu   Unclassified  -           A metastatic melanoma sample
ALPK3     Q96L96     VAR_041532  p.Arg1412Trp   Polymorphism  rs55752937  -
ALPK3     Q96L96     VAR_041533  p.Ala1557Asp   Polymorphism  rs34775428  -
ALPK3     Q96L96     VAR_057743  p.Glu1013Lys   Polymorphism  rs35633849  -
ALPK3     Q96L96     VAR_057744  p.Ala1137Gly   Polymorphism  rs34173528  -
ALPK3     Q96L96     VAR_057745  p.Ala1873Val   Polymorphism  rs36002219  -
ALPL      P05186     VAR_006147  p.Ala33Val     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006148  p.Met62Leu     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006149  p.Arg71Cys     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006150  p.Arg71Pro     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006151  p.Ala111Thr    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006152  p.Arg136His    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006153  p.Gly162Val    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006154  p.His171Tyr    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006155  p.Ala177Thr    Disease       rs199669988 Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006156  p.Ala179Thr    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006157  p.Glu191Gly    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006158  p.Glu191Lys    Disease       rs121918007 Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006159  p.Cys201Tyr    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006160  p.Gln207Pro    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006161  p.Tyr263His    Polymorphism  rs3200254   -
ALPL      P05186     VAR_006162  p.Leu289Phe    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006163  p.Asp294Ala    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006164  p.Asp306Val    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006165  p.Phe327Leu    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006166  p.Gly334Asp    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006167  p.Asp378Val    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006168  p.Val382Ile    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006169  p.Tyr436His    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_006170  p.Glu476Lys    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011081  p.Ala40Val     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011082  p.Thr134Asn    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011083  p.Ala176Thr    Disease       rs121918019 Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011084  p.Lys224Glu    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011085  p.Arg246Ser    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011086  p.Ala348Thr    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011087  p.His381Arg    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011088  p.Asp406Gly    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011089  p.Gly426Cys    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011090  p.Arg450His    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011091  p.Gly456Arg    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011092  p.Asn478Ile    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011093  p.Cys489Ser    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_011094  p.Val522Ala    Polymorphism  rs34605986  -
ALPL      P05186     VAR_013146  p.Ala132Val    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013972  p.Tyr28Cys     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013973  p.Ala51Val     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013974  p.Gly63Val     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013975  p.Arg71His     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013976  p.Gly75Ser     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013977  p.Ala116Thr    Disease       rs28933974  Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013978  p.Gly120Arg    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013979  p.Gly129Arg    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013980  p.Arg152His    Disease       rs149344982 Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013981  p.Asn170Asp    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013982  p.Ser181Leu    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013983  p.Arg184Trp    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013984  p.Asn211Asp    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013985  p.Gly220Val    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013986  p.Arg223Trp    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013987  p.Glu235Gly    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013988  p.Gly249Val    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013989  p.Glu291Lys    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013990  p.Asp294Tyr    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013991  p.Gly326Arg    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013992  p.Phe327Gly    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013993  p.Arg391Cys    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013994  p.Ala399Ser    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013995  p.Val423Ala    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013996  p.Ser445Pro    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013997  p.Arg450Cys    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013998  p.Val459Met    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_013999  p.Gly473Ser    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_014000  p.Ile490Phe    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_014001  p.Gly491Arg    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025903  p.Ser17Phe     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025904  p.Ala51Ser     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025905  p.Met62Val     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025906  p.Gly63Arg     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025907  p.Thr68Met     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025908  p.Arg71Ser     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025909  p.Gln76Arg     Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025910  p.Pro108Leu    Disease       rs28933975  Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025911  p.Ala114Gly    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025912  p.Val128Met    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025913  p.Thr134His    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025914  p.Thr148Ile    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025915  p.Gly162Ser    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025916  p.His171Arg    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025917  p.Asp189Glu    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025918  p.Ile212Phe    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025919  p.Gly220Ala    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025920  p.Arg223Gln    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025921  p.Arg272His    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025922  p.Arg272Leu    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025923  p.Leu275Pro    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025924  p.Pro292Thr    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025926  p.Met295Thr    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025927  p.Tyr297Asp    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025928  p.Glu298Lys    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025929  p.Leu299Pro    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025930  p.Glu311Lys    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025932  p.Gly339Arg    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025933  p.Glu354Asp    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025934  p.Arg391His    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025935  p.Thr411Ala    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025936  p.Leu414Met    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025937  p.Asn417Ser    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025938  p.Gly426Asp    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025939  p.Glu452Lys    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPL      P05186     VAR_025940  p.Ala468Thr    Disease       -           Hypophosphatasia (HOPS) [MIM:146300]
ALPPL2    P10696     VAR_027552  p.Gln34Glu     Polymorphism  rs1048983   -
ALPPL2    P10696     VAR_027553  p.Leu273Met    Polymorphism  rs17416141  -
ALPPL2    P10696     VAR_027554  p.Leu316Arg    Polymorphism  rs1048992   -
ALPPL2    P10696     VAR_027555  p.Gly527Glu    Polymorphism  rs1048999   -
ALPP      P05187     VAR_017419  p.Pro25Leu     Polymorphism  rs1130335   -
ALPP      P05187     VAR_050520  p.Ile89Leu     Polymorphism  rs13026692  -
ALPP      P05187     VAR_050521  p.Arg231Pro    Polymorphism  rs1048988   -
ALPP      P05187     VAR_050522  p.Arg263His    Polymorphism  rs2853378   -
ALPP      P05187     VAR_050523  p.Glu451Gly    Polymorphism  rs1048994   -
ALS2CL    Q60I27     VAR_037791  p.Glu45Gln     Polymorphism  rs7642448   -
ALS2CL    Q60I27     VAR_037792  p.Gln280Glu    Unclassified  -           A breast cancer sample
ALS2CL    Q60I27     VAR_037793  p.Leu576Phe    Unclassified  -           A breast cancer sample
ALS2CL    Q60I27     VAR_061554  p.Gln29Arg     Polymorphism  rs59661801  -
ALS2CR11  Q53TS8     VAR_024769  p.His376Gln    Polymorphism  rs10804117  -
ALS2CR11  Q53TS8     VAR_035787  p.Lys123Met    Unclassified  -           A colorectal cancer sample
ALS2CR12  Q96Q35     VAR_045625  p.Val43Leu     Polymorphism  rs13014235  -
ALS2      Q96Q42     VAR_015655  p.His102Arg    Polymorphism  -           -
ALS2      Q96Q42     VAR_015656  p.Val368Met    Polymorphism  rs3219156   -
ALS2      Q96Q42     VAR_015657  p.Arg1406Lys   Polymorphism  -           -
ALS2      Q96Q42     VAR_036747  p.Ile94Val     Polymorphism  rs3219154   -
ALS2      Q96Q42     VAR_036748  p.Glu159Lys    Polymorphism  rs3219155   -
ALS2      Q96Q42     VAR_036749  p.Ser1255Phe   Polymorphism  rs10206276  -
ALX3      O95076     VAR_047475  p.Pro234Ala    Polymorphism  rs12749726  -
ALX3      O95076     VAR_063226  p.Leu168Val    Disease       -           Frontonasal dysplasia 1 (FND1) [MIM:136760]
ALX3      O95076     VAR_063227  p.Arg183Trp    Disease       -           Frontonasal dysplasia 1 (FND1) [MIM:136760]
ALX3      O95076     VAR_063228  p.Arg196Trp    Disease       rs121908170 Frontonasal dysplasia 1 (FND1) [MIM:136760]
ALX3      O95076     VAR_063229  p.Asn203Ser    Disease       -           Frontonasal dysplasia 1 (FND1) [MIM:136760]
ALX4      Q9H161     VAR_010783  p.Arg35Thr     Polymorphism  rs3824915   -
ALX4      Q9H161     VAR_010784  p.Pro102Ser    Polymorphism  rs12421995  -
ALX4      Q9H161     VAR_010785  p.Arg218Gln    Disease       -           Parietal foramina 2 (PFM2) [MIM:609597]
ALX4      Q9H161     VAR_010897  p.Arg272Pro    Disease       -           Parietal foramina 2 (PFM2) [MIM:609597]
ALX4      Q9H161     VAR_058413  p.Arg257Thr    Polymorphism  rs3824915   -
ALX4      Q9H161     VAR_069279  p.Val7Phe      Disease       -           Craniosynostosis 5 (CRS5) [MIM:615529]
ALX4      Q9H161     VAR_069280  p.Lys211Glu    Disease       -           Craniosynostosis 5 (CRS5) [MIM:615529]
ALX4      Q9H161     VAR_069281  p.Pro306Leu    Polymorphism  -           -
AMACR     Q9UHK6     VAR_010660  p.Val9Met      Polymorphism  rs3195676   -
AMACR     Q9UHK6     VAR_010661  p.Ser52Pro     Disease       -           Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:614307]
AMACR     Q9UHK6     VAR_010661  p.Ser52Pro     Disease       -           Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950]
AMACR     Q9UHK6     VAR_010662  p.Gly175Asp    Polymorphism  rs10941112  -
AMACR     Q9UHK6     VAR_010663  p.Leu201Ser    Polymorphism  rs2287939   -
AMACR     Q9UHK6     VAR_010664  p.Glu277Lys    Polymorphism  rs2278008   -
AMACR     Q9UHK6     VAR_010665  p.Leu107Pro    Disease       -           Congenital bile acid synthesis defect 4 (CBAS4) [MIM:214950]
AMACR     Q9UHK6     VAR_055616  p.Arg118Gln    Polymorphism  rs16892150  -
AMACR     Q9UHK6     VAR_055617  p.Pro238Ser    Polymorphism  rs9282594   -
AMACR     Q9UHK6     VAR_055618  p.Gln239His    Polymorphism  rs34677     -
AMACR     Q9UHK6     VAR_055619  p.Met261Ile    Polymorphism  rs9282593   -
AMACR     Q9UHK6     VAR_055620  p.Met261Thr    Polymorphism  rs3195678   -
AMBN      Q9NP70     VAR_014066  p.Met11Thr     Unclassified  -           -
AMBN      Q9NP70     VAR_014067  p.Leu354Pro    Polymorphism  rs72654387  -
AMBN      Q9NP70     VAR_014069  p.His439Arg    Unclassified  -           -
AMBN      Q9NP70     VAR_048225  p.Ala255Val    Polymorphism  rs7439186   -
AMDHD1    Q96NU7     VAR_031419  p.Ser3Gly      Polymorphism  rs7955450   -
AMDHD1    Q96NU7     VAR_031420  p.Pro360His    Polymorphism  rs17024904  -
AMDHD2    Q9Y303     VAR_038301  p.Asp294Asn    Unclassified  -           A colorectal cancer sample
AMELX     Q99217     VAR_037581  p.Trp4Ser      Disease       -           Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
AMELX     Q99217     VAR_037582  p.Thr37Ile     Disease       -           Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
AMELX     Q99217     VAR_037583  p.Pro56Thr     Disease       -           Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
AMER1     Q5JTC6     VAR_031304  p.Lys292Asn    Polymorphism  -           -
AMER1     Q5JTC6     VAR_053870  p.Phe159Leu    Polymorphism  rs34677493  -
AMER1     Q5JTC6     VAR_053871  p.Ala278Ser    Polymorphism  rs35718712  -
AMER2     Q8N7J2     VAR_031303  p.Ile659Met    Polymorphism  rs2282406   -
AMER2     Q8N7J2     VAR_036448  p.Ala457Thr    Unclassified  -           A colorectal cancer sample
AMER3     Q8N944     VAR_039218  p.Ser340Pro    Polymorphism  rs1905235   -
AMFR      Q9UKV5     VAR_035790  p.Asp605Val    Unclassified  -           A breast cancer sample
AMH       P03971     VAR_007483  p.Val12Gly     Disease       rs149082963 Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH       P03971     VAR_007484  p.Ser49Ile     Polymorphism  rs10407022  -
AMH       P03971     VAR_007485  p.Leu70Pro     Disease       -           Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH       P03971     VAR_007486  p.Gly101Val    Disease       -           Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH       P03971     VAR_007487  p.Arg123Trp    Disease       -           Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH       P03971     VAR_007488  p.Tyr167Cys    Disease       -           Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH       P03971     VAR_007489  p.Gln185Glu    Polymorphism  -           -
AMH       P03971     VAR_007490  p.Arg194Cys    Disease       -           Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH       P03971     VAR_007491  p.Gln325Arg    Polymorphism  rs140765565 -
AMH       P03971     VAR_007492  p.Val477Ala    Disease       -           Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH       P03971     VAR_031027  p.His506Gln    Disease       -           Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH       P03971     VAR_031028  p.Cys525Tyr    Disease       -           Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
AMH       P03971     VAR_065100  p.Val515Ala    Polymorphism  rs10417628  -
AMHR2     Q16671     VAR_015525  p.Arg54Cys     Disease       -           Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2     Q16671     VAR_015526  p.Gly142Val    Disease       -           Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2     Q16671     VAR_015527  p.His282Gln    Disease       -           Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2     Q16671     VAR_015528  p.Arg406Gln    Disease       -           Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2     Q16671     VAR_015529  p.Asp426Gly    Disease       -           Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2     Q16671     VAR_015530  p.Val458Ala    Disease       -           Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2     Q16671     VAR_015531  p.Asp491His    Disease       -           Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2     Q16671     VAR_015532  p.Arg504Cys    Disease       -           Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
AMHR2     Q16671     VAR_069048  p.Arg319His    Polymorphism  rs144236183 -
AMICA1    Q86YT9     VAR_049974  p.Ile94Asn     Polymorphism  rs17121881  -
AMICA1    Q86YT9     VAR_049975  p.Val193Ala    Polymorphism  rs1793174   -
AMICA1    Q86YT9     VAR_049976  p.Ile322Met    Polymorphism  rs2298831   -
AMN       Q9BXJ7     VAR_015733  p.Thr41Ile     Disease       rs28939377  Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]
AMOTL1    Q8IY63     VAR_033498  p.Pro847Leu    Polymorphism  rs11020968  -
AMOTL2    Q9Y2J4     VAR_023535  p.Glu731Asp    Polymorphism  rs1353776   -
AMOTL2    Q9Y2J4     VAR_055497  p.Thr227Ile    Polymorphism  rs35377537  -
AMOTL2    Q9Y2J4     VAR_055498  p.Ala342Pro    Polymorphism  rs2303635   -
AMOTL2    Q9Y2J4     VAR_055499  p.Gly415Ser    Polymorphism  rs2241559   -
AMPD1     P23109     VAR_013270  p.Pro81Leu     Polymorphism  rs61752479  -
AMPD1     P23109     VAR_013271  p.Arg421Trp    Disease       rs35859650  Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511]
AMPD1     P23109     VAR_013272  p.Arg458His    Disease       -           Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511]
AMPD1     P23109     VAR_035801  p.Pro666His    Unclassified  -           A colorectal cancer sample
AMPD1     P23109     VAR_048860  p.Glu55Lys     Polymorphism  rs2273268   -
AMPD2     Q01433     VAR_069105  p.Ile522Val    Polymorphism  rs201254826 -
AMPD2     Q01433     VAR_071158  p.Arg674His    Disease       -           Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809]
AMPD2     Q01433     VAR_071159  p.Asp793Tyr    Disease       -           Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809]
AMPD2     Q01433     VAR_071193  p.Glu778Asp    Disease       -           Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809]
AMPD3     Q01432     VAR_009881  p.Arg573Cys    Disease       rs3741040   Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3     Q01432     VAR_033499  p.Arg185Trp    Polymorphism  rs11042836  -
AMPD3     Q01432     VAR_042606  p.Asn310Lys    Disease       -           Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3     Q01432     VAR_042607  p.Val311Leu    Disease       rs117706710 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3     Q01432     VAR_042608  p.Ala320Val    Disease       -           Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3     Q01432     VAR_042609  p.Met324Thr    Disease       -           Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3     Q01432     VAR_042610  p.Arg331Cys    Disease       -           Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3     Q01432     VAR_042611  p.Arg402Cys    Disease       -           Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3     Q01432     VAR_042612  p.Trp450Arg    Disease       -           Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3     Q01432     VAR_042613  p.Tyr455His    Polymorphism  rs36003153  -
AMPD3     Q01432     VAR_042614  p.Pro585Leu    Disease       -           Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPD3     Q01432     VAR_042615  p.Gln712Pro    Disease       -           Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
AMPH      P49418     VAR_053004  p.Lys218Glu    Polymorphism  rs35166354  -
AMPH      P49418     VAR_053005  p.Met376Ile    Polymorphism  rs17171345  -
AMPH      P49418     VAR_053006  p.Lys496Thr    Polymorphism  rs35024632  -
AMTN      Q6UX39     VAR_035791  p.Gly78Ser     Unclassified  -           A colorectal cancer sample
AMTN      Q6UX39     VAR_050661  p.Asn45Ser     Polymorphism  rs7660807   -
AMTN      Q6UX39     VAR_050662  p.Ser50Pro     Polymorphism  rs34803339  -
AMT       P48728     VAR_007951  p.His42Arg     Disease       -           Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMT       P48728     VAR_007952  p.Gly47Arg     Disease       -           Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMT       P48728     VAR_007953  p.Gly269Asp    Disease       -           Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMT       P48728     VAR_007954  p.Asp276His    Disease       -           Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMT       P48728     VAR_007955  p.Arg320His    Disease       -           Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMT       P48728     VAR_016847  p.Asn145Ile    Disease       -           Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMT       P48728     VAR_016848  p.Glu211Lys    Disease       rs116192290 Non-ketotic hyperglycinemia (NKH) [MIM:605899]
AMZ1      Q400G9     VAR_024849  p.Arg491His    Polymorphism  rs7776970   -
AMZ2      Q86W34     VAR_024850  p.Asn30Asp     Polymorphism  rs3213690   -
AMZ2      Q86W34     VAR_047343  p.His146Gln    Polymorphism  rs3207194   -
ANAPC10   Q9UM13     VAR_025200  p.Arg46Gln     Polymorphism  rs35257136  -
ANAPC4    Q9UJX5     VAR_035792  p.Ile155Val    Unclassified  -           A colorectal cancer sample
ANAPC4    Q9UJX5     VAR_054044  p.Arg465Gln    Polymorphism  rs34811474  -
ANAPC4    Q9UJX5     VAR_054045  p.Glu800Gly    Polymorphism  rs11550697  -
ANAPC5    Q9UJX4     VAR_035793  p.Gln617His    Unclassified  -           A breast cancer sample
ANGEL1    Q9UNK9     VAR_056239  p.Gly141Trp    Polymorphism  rs34270005  -
ANGEL1    Q9UNK9     VAR_056240  p.Phe515Cys    Polymorphism  rs2075773   -
ANGEL1    Q9UNK9     VAR_061374  p.Val383Leu    Polymorphism  rs45499197  -
ANGEL2    Q5VTE6     VAR_050290  p.Pro97Ser     Polymorphism  rs11542154  -
ANG       P03950     VAR_013148  p.Lys84Glu     Polymorphism  rs17560     -
ANG       P03950     VAR_044145  p.Phe12Ser     Disease       -           Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG       P03950     VAR_044146  p.Pro20Ser     Disease       -           Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG       P03950     VAR_044147  p.Gln36Leu     Disease       -           Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG       P03950     VAR_044148  p.Lys41Glu     Disease       -           Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG       P03950     VAR_044149  p.Lys41Ile     Disease       -           Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG       P03950     VAR_044150  p.Ser52Asn     Disease       -           Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG       P03950     VAR_044151  p.Arg55Lys     Disease       -           Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG       P03950     VAR_044152  p.Cys63Trp     Disease       -           Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG       P03950     VAR_044153  p.Lys64Ile     Disease       -           Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG       P03950     VAR_044154  p.Ile70Val     Unclassified  -           -
ANG       P03950     VAR_044155  p.Pro136Leu    Disease       -           Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG       P03950     VAR_044156  p.Val137Ile    Disease       -           Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANG       P03950     VAR_044157  p.His138Arg    Disease       -           Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]
ANGPT1    Q15389     VAR_069165  p.Leu247Pro    Polymorphism  rs73701083  -
ANGPT2    O15123     VAR_049069  p.Val333Ile    Polymorphism  rs7813215   -
ANGPT4    Q9Y264     VAR_049070  p.Glu395Lys    Polymorphism  rs869171    -
ANGPTL3   Q9Y5C1     VAR_049071  p.Asn418Tyr    Polymorphism  rs4145257   -
ANGPTL3   Q9Y5C1     VAR_067283  p.Leu127Phe    Polymorphism  rs72649573  -
ANGPTL4   Q9BY76     VAR_020428  p.Thr266Met    Polymorphism  rs1044250   -
ANGPTL4   Q9BY76     VAR_032642  p.Pro5Leu      Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032643  p.Glu40Lys     Polymorphism  rs116843064 -
ANGPTL4   Q9BY76     VAR_032644  p.Met41Ile     Polymorphism  rs186754194 -
ANGPTL4   Q9BY76     VAR_032645  p.Ser67Arg     Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032646  p.Arg72Leu     Polymorphism  rs141831018 -
ANGPTL4   Q9BY76     VAR_032647  p.Gly77Arg     Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032648  p.Glu167Lys    Polymorphism  rs140640857 -
ANGPTL4   Q9BY76     VAR_032649  p.Pro174Ser    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032650  p.Glu190Gln    Polymorphism  rs77938377  -
ANGPTL4   Q9BY76     VAR_032651  p.Glu196Lys    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032652  p.Arg230Cys    Polymorphism  rs201026877 -
ANGPTL4   Q9BY76     VAR_032653  p.Gly233Arg    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032654  p.Phe237Val    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032655  p.Pro251Thr    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032656  p.Arg278Gln    Polymorphism  rs35061979  -
ANGPTL4   Q9BY76     VAR_032657  p.Val291Met    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032658  p.Leu293Met    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032659  p.Glu296Val    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032660  p.Pro307Ser    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032661  p.Val308Met    Polymorphism  rs139998264 -
ANGPTL4   Q9BY76     VAR_032662  p.Arg336Cys    Polymorphism  rs140744493 -
ANGPTL4   Q9BY76     VAR_032663  p.Asp338Glu    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032664  p.Trp349Cys    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032665  p.Gly361Arg    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032666  p.Gly361Ser    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032667  p.Arg371Gln    Polymorphism  -           -
ANGPTL4   Q9BY76     VAR_032668  p.Arg384Trp    Polymorphism  -           -
ANGPTL5   Q86XS5     VAR_055803  p.Ser175Pro    Polymorphism  rs7946238   -
ANGPTL7   O43827     VAR_025075  p.Glu51Asp     Polymorphism  rs28990992  -
ANGPTL7   O43827     VAR_025076  p.Arg140His    Polymorphism  rs28991002  -
ANGPTL7   O43827     VAR_025077  p.Gln175His    Polymorphism  rs28991009  -
ANK1      P16157     VAR_000595  p.Arg21Thr     Polymorphism  -           -
ANK1      P16157     VAR_000596  p.Val463Ile    Disease       -           Spherocytosis 1 (SPH1) [MIM:182900]
ANK1      P16157     VAR_000597  p.Arg619His    Polymorphism  rs2304877   -
ANK1      P16157     VAR_000598  p.Val750Ala    Polymorphism  -           -
ANK1      P16157     VAR_000599  p.Asp845Glu    Polymorphism  -           -
ANK1      P16157     VAR_000600  p.Ser1392Thr   Polymorphism  -           -
ANK1      P16157     VAR_000601  p.Glu1286Asp   Polymorphism  -           -
ANK1      P16157     VAR_000602  p.Asp1592Asn   Unclassified  -           -
ANK1      P16157     VAR_026411  p.Val991Leu    Polymorphism  -           -
ANK1      P16157     VAR_028769  p.Leu733Ile    Polymorphism  rs11778936  -
ANK1      P16157     VAR_028770  p.Ala1126Pro   Polymorphism  rs504465    -
ANK1      P16157     VAR_028771  p.Thr1192Pro   Polymorphism  rs486770    -
ANK1      P16157     VAR_028772  p.Met1325Val   Polymorphism  rs10093583  -
ANK1      P16157     VAR_028773  p.Val1546Ile   Polymorphism  rs1060130   -
ANK1      P16157     VAR_035605  p.Asp332His    Unclassified  -           A breast cancer sample
ANK1      P16157     VAR_048263  p.Thr1075Ile   Polymorphism  rs35213384  -
ANK1      P16157     VAR_054991  p.Leu276Arg    Disease       -           Spherocytosis 1 (SPH1) [MIM:182900]
ANK1      P16157     VAR_054992  p.Ile1054Thr   Disease       -           Spherocytosis 1 (SPH1) [MIM:182900]
ANK1      P16157     VAR_061012  p.Arg832Gln    Polymorphism  rs34523608  -
ANK2      Q01484     VAR_022934  p.Glu1458Gly   Disease       rs72544141  Long QT syndrome 4 (LQT4) [MIM:600919]
ANK2      Q01484     VAR_022935  p.Leu3740Ile   Disease       rs35530544  Long QT syndrome 4 (LQT4) [MIM:600919]
ANK2      Q01484     VAR_022936  p.Thr3744Asn   Disease       -           Long QT syndrome 4 (LQT4) [MIM:600919]
ANK2      Q01484     VAR_022937  p.Arg3906Trp   Disease       rs121912706 Long QT syndrome 4 (LQT4) [MIM:600919]
ANK2      Q01484     VAR_022938  p.Glu3931Lys   Disease       rs45454496  Long QT syndrome 4 (LQT4) [MIM:600919]
ANK2      Q01484     VAR_035606  p.Gly685Glu    Unclassified  -           A breast cancer sample
ANK2      Q01484     VAR_035607  p.Gly1267Arg   Unclassified  -           A colorectal cancer sample
ANK2      Q01484     VAR_035608  p.Thr3653Lys   Unclassified  -           A colorectal cancer sample
ANK2      Q01484     VAR_055504  p.Asn687Ser    Polymorphism  rs29372     -
ANK2      Q01484     VAR_055505  p.Val2369Ala   Polymorphism  rs28377576  -
ANK3      Q12955     VAR_054333  p.Ile4257Val   Polymorphism  rs12261793  -
ANK3      Q12955     VAR_059115  p.His2885Gln   Polymorphism  rs11599164  -
ANK3      Q12955     VAR_059116  p.Ile3117Val   Polymorphism  rs28932171  -
ANK3      Q12955     VAR_059117  p.Lys3123Arg   Polymorphism  rs10821668  -
ANK3      Q12955     VAR_061013  p.Lys2318Arg   Polymorphism  rs59021407  -
ANK3      Q12955     VAR_061014  p.Gln2996His   Polymorphism  rs41274672  -
ANK3      Q12955     VAR_068702  p.Ser1569Ala   Unclassified  -           -
ANK3      Q12955     VAR_068703  p.Thr3720Met   Unclassified  -           -
ANK3      Q12955     VAR_068704  p.Thr4255Pro   Unclassified  -           -
ANKAR     Q7Z5J8     VAR_032164  p.Ile675Val    Polymorphism  rs16831887  -
ANKAR     Q7Z5J8     VAR_032165  p.Leu1077Phe   Polymorphism  rs1225090   -
ANKDD1A   Q495B1     VAR_032358  p.Lys355Glu    Polymorphism  rs34988193  -
ANKEF1    Q9NU02     VAR_024172  p.Leu324Gln    Polymorphism  rs652633    -
ANKEF1    Q9NU02     VAR_033500  p.Pro74Thr     Polymorphism  rs7260784   -
ANKEF1    Q9NU02     VAR_033501  p.Gly412Glu    Polymorphism  rs524625    -
ANKEF1    Q9NU02     VAR_033502  p.Arg742Gln    Polymorphism  rs6087119   -
ANKEF1    Q9NU02     VAR_035609  p.Lys694Asn    Unclassified  -           A breast cancer sample
ANKFN1    Q8N957     VAR_060725  p.Val445Ile    Polymorphism  rs10852985  -
ANKHD1    Q8IWZ3     VAR_035291  p.Leu175Met    Polymorphism  rs17850570  -
ANKHD1    Q8IWZ3     VAR_035292  p.Gly228Cys    Polymorphism  rs17850572  -
ANKHD1    Q8IWZ3     VAR_035293  p.Asn1760Ser   Polymorphism  rs3752704   -
ANKHD1    Q8IWZ3     VAR_048281  p.Gly1586Ser   Polymorphism  rs1051309   -
ANKH      Q9HCJ1     VAR_012192  p.Trp292Arg    Disease       -           Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000]
ANKH      Q9HCJ1     VAR_012193  p.Cys331Arg    Disease       -           Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000]
ANKH      Q9HCJ1     VAR_012198  p.Gly389Arg    Disease       rs28939080  Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000]
ANKH      Q9HCJ1     VAR_017556  p.Met48Thr     Disease       -           Chondrocalcinosis 2 (CCAL2) [MIM:118600]
ANKH      Q9HCJ1     VAR_022606  p.Pro5Leu      Disease       -           Chondrocalcinosis 2 (CCAL2) [MIM:118600]
ANKH      Q9HCJ1     VAR_022607  p.Pro5Thr      Disease       -           Chondrocalcinosis 2 (CCAL2) [MIM:118600]
ANKIB1    Q9P2G1     VAR_030862  p.Leu1016Met   Polymorphism  rs38794     -
ANKK1     Q8NFD2     VAR_025010  p.Glu713Lys    Polymorphism  rs1800497   -
ANKK1     Q8NFD2     VAR_036784  p.Ala239Thr    Polymorphism  rs7118900   -
ANKK1     Q8NFD2     VAR_036785  p.Gly318Arg    Polymorphism  rs11604671  -
ANKK1     Q8NFD2     VAR_036786  p.Gly442Arg    Polymorphism  rs4938016   -
ANKK1     Q8NFD2     VAR_036787  p.His490Arg    Polymorphism  rs2734849   -
ANKK1     Q8NFD2     VAR_040359  p.Asp4Tyr      Polymorphism  rs35657708  -
ANKK1     Q8NFD2     VAR_040360  p.Arg122His    Polymorphism  rs35877321  -
ANKK1     Q8NFD2     VAR_040361  p.Pro276Leu    Polymorphism  rs35488601  -
ANKK1     Q8NFD2     VAR_040362  p.Lys347Thr    Unclassified  -           A breast infiltrating ductal carcinoma sample
ANKK1     Q8NFD2     VAR_040363  p.Leu366Phe    Polymorphism  rs56339158  -
ANKK1     Q8NFD2     VAR_040364  p.His367Gln    Polymorphism  rs34298987  -
ANKK1     Q8NFD2     VAR_040365  p.Glu376Lys    Polymorphism  rs56299709  -
ANKK1     Q8NFD2     VAR_040366  p.Glu426Lys    Polymorphism  rs55699907  -
ANKK1     Q8NFD2     VAR_040367  p.Gly451Arg    Polymorphism  rs34983219  -
ANKK1     Q8NFD2     VAR_040368  p.Thr595Ile    Polymorphism  rs55787008  -
ANKK1     Q8NFD2     VAR_040369  p.Pro596Leu    Polymorphism  rs7104979   -
ANKK1     Q8NFD2     VAR_040370  p.Asn653Ser    Polymorphism  rs55849504  -
ANKK1     Q8NFD2     VAR_040371  p.Ser670Gly    Polymorphism  rs56006094  -
ANKK1     Q8NFD2     VAR_040372  p.Gln717Leu    Unclassified  -           A lung large cell carcinoma sample
ANKK1     Q8NFD2     VAR_040373  p.Arg736Leu    Unclassified  -           A lung squamous cell carcinoma sample
ANKK1     Q8NFD2     VAR_040374  p.Glu764Lys    Unclassified  -           A lung neuroendocrine carcinoma sample
ANKLE1    Q8NAG6     VAR_033507  p.Leu94Gln     Polymorphism  rs8108174   -
ANKLE1    Q8NAG6     VAR_033508  p.Leu184Trp    Polymorphism  rs2363956   -
ANKLE1    Q8NAG6     VAR_033509  p.Thr311Pro    Polymorphism  rs891017    -
ANKLE1    Q8NAG6     VAR_033510  p.Gln435Arg    Polymorphism  rs11086065  -
ANKLE1    Q8NAG6     VAR_033511  p.Val447Met    Polymorphism  rs34112069  -
ANKLE1    Q8NAG6     VAR_061015  p.Pro160Ser    Polymorphism  rs59119993  -
ANKLE1    Q8NAG6     VAR_063681  p.Ala31Thr     Polymorphism  rs8100241   -
ANKLE1    Q8NAG6     VAR_063682  p.Ala71Val     Polymorphism  rs1864116   -
ANKLE2    Q86XL3     VAR_031097  p.His122Tyr    Polymorphism  rs1132375   -
ANKLE2    Q86XL3     VAR_031098  p.Gln148Glu    Polymorphism  rs7968520   -
ANKLE2    Q86XL3     VAR_031099  p.Arg720His    Polymorphism  rs10781634  -
ANKMY1    Q9P2S6     VAR_048264  p.Asp89Asn     Polymorphism  rs35278753  -
ANKMY1    Q9P2S6     VAR_048265  p.Ile424Met    Polymorphism  rs35996697  -
ANKMY1    Q9P2S6     VAR_048266  p.Asp451Val    Polymorphism  rs3796118   -
ANKMY1    Q9P2S6     VAR_048267  p.Val472Leu    Polymorphism  rs3821348   -
ANKMY1    Q9P2S6     VAR_048268  p.Thr649Met    Polymorphism  rs35044862  -
ANKRD10   Q9NXR5     VAR_020095  p.Pro320Leu    Polymorphism  rs3742185   -
ANKRD12   Q6UB98     VAR_019425  p.Ser171Thr    Polymorphism  -           -
ANKRD12   Q6UB98     VAR_022088  p.Ser818Asn    Polymorphism  rs2298546   -
ANKRD12   Q6UB98     VAR_024173  p.Lys906Arg    Polymorphism  rs4798791   -
ANKRD12   Q6UB98     VAR_026042  p.Pro277Ala    Polymorphism  rs2298548   -
ANKRD12   Q6UB98     VAR_048271  p.Glu390Asp    Polymorphism  rs35101529  -
ANKRD12   Q6UB98     VAR_048272  p.Thr507Ile    Polymorphism  rs17498752  -
ANKRD12   Q6UB98     VAR_048273  p.Thr531Ser    Polymorphism  rs7243088   -
ANKRD12   Q6UB98     VAR_048274  p.Leu998Ser    Polymorphism  rs34996750  -
ANKRD12   Q6UB98     VAR_048275  p.Ser1758Pro   Polymorphism  rs3744822   -
ANKRD13A  Q8IZ07     VAR_048276  p.Leu505Pro    Polymorphism  rs2287174   -
ANKRD13C  Q8N6S4     VAR_026825  p.Thr413Ser    Polymorphism  rs17852616  -
ANKRD16   Q6P6B7     VAR_026832  p.Gln353Arg    Polymorphism  rs1052420   -
ANKRD16   Q6P6B7     VAR_033503  p.Ala128Gly    Polymorphism  rs2296136   -
ANKRD17   O75179     VAR_036711  p.His2560Tyr   Polymorphism  rs2306059   -
ANKRD18A  Q8IVF6     VAR_055507  p.Glu130Lys    Polymorphism  rs1832313   -
ANKRD18A  Q8IVF6     VAR_055508  p.Ala277Glu    Polymorphism  rs632200    -
ANKRD18A  Q8IVF6     VAR_055509  p.Asn484Ser    Polymorphism  rs2996347   -
ANKRD18A  Q8IVF6     VAR_055510  p.Tyr688Cys    Polymorphism  rs2799163   -
ANKRD18A  Q8IVF6     VAR_055511  p.Thr942Ile    Polymorphism  rs11999308  -
ANKRD18A  Q8IVF6     VAR_055512  p.Glu945Asp    Polymorphism  rs12341435  -
ANKRD18A  Q8IVF6     VAR_059118  p.Glu838Asp    Polymorphism  rs12341435  -
ANKRD1    Q15327     VAR_047112  p.Thr116Met    Disease       rs142354133 Total anomalous pulmonary venous return (TAPVR) [MIM:106700]
ANKRD22   Q5VYY1     VAR_027628  p.Glu73Gly     Polymorphism  rs17113412  -
ANKRD22   Q5VYY1     VAR_027629  p.Tyr79His     Polymorphism  rs17851907  -
ANKRD22   Q5VYY1     VAR_027630  p.Gln148Pro    Polymorphism  rs2304804   -
ANKRD22   Q5VYY1     VAR_027631  p.Arg177Ile    Polymorphism  rs7912706   -
ANKRD24   Q8TF21     VAR_042536  p.Ala111Thr    Polymorphism  rs2052191   -
ANKRD24   Q8TF21     VAR_042537  p.Arg349Gln    Polymorphism  rs12978469  -
ANKRD24   Q8TF21     VAR_042538  p.Glu585Lys    Polymorphism  rs10413818  -
ANKRD24   Q8TF21     VAR_042539  p.Ser684Ala    Polymorphism  rs353693    -
ANKRD26P1 Q6NSI1     VAR_040003  p.Lys265Thr    Polymorphism  rs1436436   -
ANKRD26   Q9UPS8     VAR_026833  p.Gln20Arg     Polymorphism  rs7897309   -
ANKRD26   Q9UPS8     VAR_026834  p.Val1304Ile   Polymorphism  rs10829163  -
ANKRD26   Q9UPS8     VAR_026835  p.Phe1513Leu   Polymorphism  rs2274741   -
ANKRD26   Q9UPS8     VAR_055513  p.Ile425Val    Polymorphism  rs12359281  -
ANKRD26   Q9UPS8     VAR_055514  p.Val1219Leu   Polymorphism  rs12572862  -
ANKRD27   Q96NW4     VAR_030317  p.Ser657Gly    Polymorphism  rs2287669   -
ANKRD27   Q96NW4     VAR_030318  p.Pro761Arg    Polymorphism  rs2302970   -
ANKRD29   Q8N6D5     VAR_026869  p.Gly112Glu    Polymorphism  rs17855552  -
ANKRD29   Q8N6D5     VAR_035610  p.Val95Met     Unclassified  -           A breast cancer sample
ANKRD2    Q9GZV1     VAR_042498  p.Ala62Thr     Polymorphism  rs7094973   -
ANKRD30A  Q9BXX3     VAR_033504  p.Thr611Ala    Polymorphism  rs16937417  -
ANKRD30A  Q9BXX3     VAR_033505  p.Lys917Asn    Polymorphism  rs1209750   -
ANKRD30A  Q9BXX3     VAR_035611  p.Gln227Glu    Unclassified  -           A breast cancer sample
ANKRD30A  Q9BXX3     VAR_055515  p.Arg985Cys    Polymorphism  rs1200875   -
ANKRD30B  Q9BXX2     VAR_042540  p.Val375Met    Polymorphism  rs9748611   -
ANKRD30B  Q9BXX2     VAR_042541  p.Phe477Leu    Polymorphism  rs9675365   -
ANKRD31   Q8N7Z5     VAR_042542  p.Asp702Asn    Polymorphism  rs1422698   -
ANKRD31   Q8N7Z5     VAR_042543  p.Arg758Gly    Polymorphism  rs6893216   -
ANKRD31   Q8N7Z5     VAR_042544  p.Asp1609Glu   Polymorphism  rs961098    -
ANKRD31   Q8N7Z5     VAR_042545  p.Arg1777Lys   Polymorphism  rs4489037   -
ANKRD32   Q9BQI6     VAR_059120  p.Ser288Arg    Polymorphism  rs6891545   -
ANKRD33   Q7Z3H0     VAR_059121  p.Tyr5Phe      Polymorphism  rs697636    -
ANKRD33   Q7Z3H0     VAR_059122  p.Gln132Arg    Polymorphism  rs34494292  -
ANKRD33   Q7Z3H0     VAR_059123  p.Thr188Asn    Polymorphism  rs12368048  -
ANKRD33   Q7Z3H0     VAR_059124  p.Val261Ile    Polymorphism  rs3180417   -
ANKRD34B  A5PLL1     VAR_038952  p.Leu156Ser    Polymorphism  rs32857     -
ANKRD34C  P0C6C1     VAR_038953  p.Pro369Arg    Polymorphism  rs410400    -
ANKRD34C  P0C6C1     VAR_038954  p.Pro427His    Polymorphism  rs449340    -
ANKRD34C  P0C6C1     VAR_038955  p.Leu442Ile    Polymorphism  rs422777    -
ANKRD35   Q8N283     VAR_026870  p.Pro428Ser    Polymorphism  rs6670984   -
ANKRD35   Q8N283     VAR_033506  p.Asn978Asp    Polymorphism  rs16827032  -
ANKRD35   Q8N283     VAR_048278  p.Asn53Lys     Polymorphism  rs6658371   -
ANKRD35   Q8N283     VAR_061017  p.Arg592Gln    Polymorphism  rs41315701  -
ANKRD36B  Q8N2N9     VAR_057818  p.Glu496Asp    Polymorphism  rs13001728  -
ANKRD36B  Q8N2N9     VAR_060687  p.Glu483Gly    Polymorphism  rs1839230   -
ANKRD36B  Q8N2N9     VAR_060688  p.Ser534Ala    Polymorphism  rs6761299   -
ANKRD37   Q7Z713     VAR_048279  p.Thr152Ser    Polymorphism  rs4317244   -
ANKRD39   Q53RE8     VAR_026905  p.Ala113Thr    Polymorphism  rs17852947  -
ANKRD42   Q8N9B4     VAR_028366  p.Asn198Asp    Polymorphism  rs17515016  -
ANKRD53   Q8N9V6     VAR_030300  p.Leu153Ile    Polymorphism  rs17853403  -
ANKRD53   Q8N9V6     VAR_054427  p.Met243Thr    Polymorphism  rs36123544  -
ANKRD53   Q8N9V6     VAR_061018  p.Ala105Gly    Polymorphism  rs35096506  -
ANKRD53   Q8N9V6     VAR_067464  p.Arg349Leu    Polymorphism  rs11688921  -
ANKRD53   Q8N9V6     VAR_067465  p.His431Leu    Polymorphism  rs3796100   -
ANKRD55   Q3KP44     VAR_030283  p.Val345Met    Polymorphism  rs321776    -
ANKRD55   Q3KP44     VAR_055516  p.Arg594Gln    Polymorphism  rs34879141  -
ANKRD60   Q9BZ19     VAR_014400  p.Arg295Cys    Polymorphism  rs584855    -
ANKRD62   A6NC57     VAR_042527  p.Ala188Ser    Polymorphism  rs1986751   -
ANKRD62   A6NC57     VAR_042528  p.Cys265Arg    Polymorphism  rs6505715   -
ANKRD62   A6NC57     VAR_042529  p.Glu406Lys    Polymorphism  rs4519391   -
ANKRD62   A6NC57     VAR_042530  p.Ala613Thr    Polymorphism  rs7243248   -
ANKRD6    Q9Y2G4     VAR_039114  p.Gln122Glu    Polymorphism  rs16881983  -
ANKRD6    Q9Y2G4     VAR_039115  p.Ile128Val    Polymorphism  rs3748085   -
ANKRD6    Q9Y2G4     VAR_039116  p.Thr233Met    Polymorphism  rs2273238   -
ANKRD6    Q9Y2G4     VAR_039117  p.Thr545Ala    Polymorphism  rs9362667   -
ANKRD6    Q9Y2G4     VAR_055506  p.Ala550Thr    Polymorphism  rs9362667   -
ANKS1A    Q92625     VAR_021168  p.Leu694Ser    Polymorphism  rs820085    -
ANKS1A    Q92625     VAR_048282  p.Ala355Asp    Polymorphism  rs6930932   -
ANKS3     Q6ZW76     VAR_048283  p.Ala404Thr    Polymorphism  rs863980    -
ANKS3     Q6ZW76     VAR_048284  p.Ala593Thr    Polymorphism  rs9936675   -
ANKS6     Q68DC2     VAR_034794  p.Val644Ile    Polymorphism  rs6415847   -
ANKS6     Q68DC2     VAR_070105  p.Arg222Trp    Polymorphism  rs41283630  -
ANKS6     Q68DC2     VAR_070106  p.Ala312Pro    Disease       -           Nephronophthisis 16 (NPHP16) [MIM:615382]
ANKS6     Q68DC2     VAR_070107  p.Arg440Gln    Polymorphism  -           -
ANKS6     Q68DC2     VAR_070108  p.Gln441Arg    Disease       rs377750405 Nephronophthisis 16 (NPHP16) [MIM:615382]
ANKS6     Q68DC2     VAR_070109  p.Gly640Ser    Polymorphism  -           -
ANKS6     Q68DC2     VAR_070110  p.Pro735Ala    Polymorphism  rs79414550  -
ANKUB1    A6NFN9     VAR_045621  p.Arg217Trp    Polymorphism  rs7645720   -
ANKUB1    A6NFN9     VAR_045622  p.Ile306Met    Polymorphism  rs3821406   -
ANKUB1    A6NFN9     VAR_045623  p.Ser386Gly    Polymorphism  rs7610425   -
ANKZF1    Q9H8Y5     VAR_048269  p.Arg569Trp    Polymorphism  rs2293076   -
ANKZF1    Q9H8Y5     VAR_048270  p.Pro676Leu    Polymorphism  rs2293079   -
ANLN      Q9NQW6     VAR_025661  p.Ser65Trp     Polymorphism  rs3735400   -
ANLN      Q9NQW6     VAR_025662  p.Arg185Lys    Polymorphism  rs197367    -
ANO10     Q9NW15     VAR_032638  p.Arg462Gln    Polymorphism  rs3772165   -
ANO10     Q9NW15     VAR_032639  p.Thr561Met    Polymorphism  rs17409162  -
ANO10     Q9NW15     VAR_032640  p.Val583Ala    Polymorphism  rs17853862  -
ANO10     Q9NW15     VAR_064888  p.Leu510Arg    Disease       -           Spinocerebellar ataxia, autosomal recessive, 10 (SCAR10) [MIM:613728]
ANO1      Q5XXA6     VAR_032417  p.Phe608Ser    Polymorphism  rs2186797   -
ANO1      Q5XXA6     VAR_032418  p.Gly983Arg    Polymorphism  rs3740722   -
ANO2      Q9NQ90     VAR_020331  p.Ser505Ala    Polymorphism  rs1860961   -
ANO2      Q9NQ90     VAR_021932  p.Val112Ala    Polymorphism  rs3741903   -
ANO2      Q9NQ90     VAR_057286  p.Pro147Ser    Polymorphism  rs3741901   -
ANO2      Q9NQ90     VAR_061853  p.Met401Ile    Polymorphism  rs17788563  -
ANO3      Q9BYT9     VAR_057287  p.Leu781Val    Polymorphism  rs11825056  -
ANO3      Q9BYT9     VAR_069732  p.Trp490Cys    Disease       -           Dystonia 24 (DYT24) [MIM:615034]
ANO3      Q9BYT9     VAR_069733  p.Arg494Trp    Disease       -           Dystonia 24 (DYT24) [MIM:615034]
ANO3      Q9BYT9     VAR_069734  p.Ser685Gly    Disease       -           Dystonia 24 (DYT24) [MIM:615034]
ANO3      Q9BYT9     VAR_069735  p.Lys862Asn    Disease       -           Dystonia 24 (DYT24) [MIM:615034]
ANO4      Q32M45     VAR_032453  p.Gly115Ala    Polymorphism  rs34162417  -
ANO5      Q75V66     VAR_023524  p.Cys356Gly    Disease       -           Gnathodiaphyseal dysplasia (GDD) [MIM:166260]
ANO5      Q75V66     VAR_023525  p.Cys356Arg    Disease       -           Gnathodiaphyseal dysplasia (GDD) [MIM:166260]
ANO5      Q75V66     VAR_052339  p.Leu322Phe    Polymorphism  rs7481951   -
ANO5      Q75V66     VAR_052340  p.Asn882Lys    Polymorphism  rs34969327  -
ANO5      Q75V66     VAR_063582  p.Gly231Val    Disease       rs137854523 Limb-girdle muscular dystrophy 2L (LGMD2L) [MIM:611307]
ANO5      Q75V66     VAR_063583  p.Arg758Cys    Disease       -           Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319]
ANO5      Q75V66     VAR_068247  p.Arg58Trp     Unclassified  rs201725369 -
ANO5      Q75V66     VAR_068248  p.Trp655Cys    Unclassified  -           -
ANO6      Q4KMQ2     VAR_028109  p.Ala128Thr    Polymorphism  rs2162321   -
ANO7      Q6IWH7     VAR_032616  p.Val67Ile     Polymorphism  rs2302054   -
ANO7      Q6IWH7     VAR_065166  p.Glu912Lys    Polymorphism  rs7590653   -
ANO9      A1A5B4     VAR_032617  p.Ile391Val    Polymorphism  rs10794324  -
ANO9      A1A5B4     VAR_032618  p.Cys399Arg    Polymorphism  rs10794323  -
ANO9      A1A5B4     VAR_054621  p.Phe93Leu     Polymorphism  rs7395065   -
ANP32C    O43423     VAR_020419  p.Arg71Lys     Polymorphism  rs2288675   -
ANP32C    O43423     VAR_020420  p.Glu204Gly    Polymorphism  rs2288676   -
ANP32C    O43423     VAR_026702  p.Ala23Val     Polymorphism  rs2288674   -
ANP32C    O43423     VAR_026703  p.Tyr140His    Polymorphism  -           -
ANP32C    O43423     VAR_048314  p.Leu105Pro    Polymorphism  rs17008716  -
ANP32D    O95626     VAR_027832  p.Leu46Phe     Polymorphism  rs7956679   -
ANPEP     P15144     VAR_006727  p.Asp242Tyr    Polymorphism  -           -
ANPEP     P15144     VAR_006728  p.Leu243Pro    Polymorphism  -           -
ANPEP     P15144     VAR_014736  p.Arg86Gln     Polymorphism  rs25653     -
ANPEP     P15144     VAR_014737  p.Ser752Asn    Polymorphism  rs25651     -
ANPEP     P15144     VAR_031262  p.Val20Met     Polymorphism  rs10152474  -
ANPEP     P15144     VAR_031263  p.Ala311Val    Polymorphism  rs17240268  -
ANPEP     P15144     VAR_031264  p.Thr321Met    Polymorphism  rs8179199   -
ANPEP     P15144     VAR_031265  p.Ile603Lys    Polymorphism  rs17240212  -
ANPEP     P15144     VAR_031266  p.Ile603Met    Polymorphism  rs8192297   -
ANTXR1    Q9H6X2     VAR_053015  p.Arg7Lys      Polymorphism  rs28365986  -
ANTXR1    Q9H6X2     VAR_063146  p.Ala326Thr    Unclassified  -           -
ANTXR2    P58335     VAR_022687  p.Leu45Pro     Disease       -           Hyaline fibromatosis syndrome (HFS) [MIM:228600]
ANTXR2    P58335     VAR_022688  p.Gly105Asp    Disease       -           Hyaline fibromatosis syndrome (HFS) [MIM:228600]
ANTXR2    P58335     VAR_022689  p.Ile189Thr    Disease       -           Hyaline fibromatosis syndrome (HFS) [MIM:228600]
ANTXR2    P58335     VAR_022690  p.Cys218Arg    Disease       -           Hyaline fibromatosis syndrome (HFS) [MIM:228600]
ANTXR2    P58335     VAR_022692  p.Leu329Arg    Disease       -           Hyaline fibromatosis syndrome (HFS) [MIM:228600]
ANTXR2    P58335     VAR_022693  p.Ala357Pro    Polymorphism  rs12647691  -
ANTXR2    P58335     VAR_022694  p.Tyr381Cys    Disease       -           Hyaline fibromatosis syndrome (HFS) [MIM:228600]
ANTXRL    A6NF34     VAR_042963  p.Pro550Arg    Polymorphism  rs7091749   -
ANXA10    Q9UJ72     VAR_030786  p.Met71Leu     Polymorphism  rs6836994   -
ANXA11    P50995     VAR_012006  p.Arg230Cys    Polymorphism  rs1049550   -
ANXA11    P50995     VAR_012007  p.Ile457Val    Polymorphism  rs1802932   -
ANXA11    P50995     VAR_048259  p.Arg191Gln    Polymorphism  rs2229554   -
ANXA13    P27216     VAR_055501  p.Arg86His     Polymorphism  rs2294013   -
ANXA13    P27216     VAR_055502  p.Val108Ile    Polymorphism  rs6995099   -
ANXA13    P27216     VAR_055503  p.Val272Ile    Polymorphism  rs2294015   -
ANXA2     P07355     VAR_012982  p.Val98Leu     Polymorphism  rs17845226  -
ANXA2R    Q3ZCQ2     VAR_033348  p.Gln119Arg    Polymorphism  rs1054428   -
ANXA2R    Q3ZCQ2     VAR_033349  p.Arg186Trp    Polymorphism  rs10971     -
ANXA3     P12429     VAR_013914  p.Ser19Asn     Polymorphism  rs5951      -
ANXA3     P12429     VAR_013915  p.Ile219Asn    Polymorphism  rs5948      -
ANXA3     P12429     VAR_013916  p.Pro251Leu    Polymorphism  rs5949      -
ANXA3     P12429     VAR_013917  p.Phe291Ser    Polymorphism  rs5941      -
ANXA4     P09525     VAR_055500  p.Thr85Met     Polymorphism  rs2228203   -
ANXA7     P20073     VAR_048253  p.Arg441Gln    Polymorphism  rs3750575   -
ANXA8L2   Q5VT79     VAR_048254  p.Ala177Gly    Polymorphism  rs3013886   -
ANXA8L2   Q5VT79     VAR_067447  p.Ala134Val    Polymorphism  rs2271519   -
ANXA8L2   Q5VT79     VAR_067448  p.Asn192Lys    Polymorphism  rs977788    -
ANXA8     P13928     VAR_000604  p.Ser6Ala      Polymorphism  -           -
ANXA8     P13928     VAR_030630  p.Gly177Ala    Polymorphism  rs3013886   -
ANXA9     O76027     VAR_022814  p.Asp166Gly    Polymorphism  rs267733    -
ANXA9     O76027     VAR_031212  p.Arg225Gln    Polymorphism  rs7542365   -
ANXA9     O76027     VAR_048255  p.Ala28Thr     Polymorphism  rs16832595  -
ANXA9     O76027     VAR_048256  p.Thr114Ala    Polymorphism  rs7536645   -
ANXA9     O76027     VAR_048257  p.Ala119Thr    Polymorphism  rs16832602  -
ANXA9     O76027     VAR_048258  p.Arg232Gln    Polymorphism  rs7542365   -
AOAH      P28039     VAR_020133  p.Ala166Thr    Polymorphism  rs3735384   -
AOAH      P28039     VAR_033513  p.Ala266Gly    Polymorphism  rs3735386   -
AOAH      P28039     VAR_050663  p.Asp28Asn     Polymorphism  rs11976480  -
AOC1      P19801     VAR_007542  p.His645Asp    Polymorphism  rs1049793   -
AOC1      P19801     VAR_025078  p.Thr16Met     Polymorphism  rs10156191  -
AOC1      P19801     VAR_025079  p.Ser332Phe    Polymorphism  rs1049742   -
AOC1      P19801     VAR_025080  p.Met479Ile    Polymorphism  rs45558339  -
AOC1      P19801     VAR_025081  p.Asn659His    Polymorphism  rs35070995  -
AOC2      O75106     VAR_025022  p.Ile5Val      Polymorphism  rs34230945  -
AOC2      O75106     VAR_025023  p.Tyr22Cys     Polymorphism  rs34435306  -
AOC2      O75106     VAR_025024  p.Pro141Leu    Polymorphism  rs35833794  -
AOC2      O75106     VAR_025025  p.Arg273Gln    Polymorphism  rs35508987  -
AOC2      O75106     VAR_025026  p.Glu427Asp    Polymorphism  rs34351794  -
AOC3      Q16853     VAR_012064  p.Tyr317His    Polymorphism  rs438287    -
AOC3      Q16853     VAR_024343  p.Arg329Gln    Polymorphism  rs2229595   -
AOC3      Q16853     VAR_025027  p.His167Tyr    Polymorphism  rs2228470   -
AOC3      Q16853     VAR_025028  p.Ile371Thr    Polymorphism  rs35097308  -
AOC3      Q16853     VAR_025029  p.Ala408Ser    Polymorphism  rs35643019  -
AOC3      Q16853     VAR_025030  p.Arg426His    Polymorphism  rs33986943  -
AOC3      Q16853     VAR_025031  p.Arg441Trp    Polymorphism  rs2229596   -
AOC3      Q16853     VAR_025032  p.Ala582Thr    Polymorphism  rs34987927  -
AOC3      Q16853     VAR_025033  p.Gly700Ser    Polymorphism  rs477207    -
AOC3      Q16853     VAR_025034  p.Ala749Val    Polymorphism  rs34012919  -
AOC3      Q16853     VAR_025035  p.Thr5Arg      Polymorphism  rs33954211  -
AOC3      Q16853     VAR_052603  p.Arg78Gln     Polymorphism  rs402680    -
AOC3      Q16853     VAR_052604  p.Val171Met    Polymorphism  rs408038    -
AOC3      Q16853     VAR_052605  p.His203Arg    Polymorphism  rs630079    -
AOPEP     Q8N6M6     VAR_021511  p.Val179Ala    Polymorphism  rs16911679  -
AOPEP     Q8N6M6     VAR_057053  p.Val179Ile    Polymorphism  rs16911679  -
AOPEP     Q8N6M6     VAR_057054  p.Arg255Gln    Polymorphism  rs16911681  -
AOPEP     Q8N6M6     VAR_057055  p.Arg386Cys    Polymorphism  rs34557833  -
AOX1      Q06278     VAR_047517  p.Arg802Cys    Polymorphism  rs41309768  -
AOX1      Q06278     VAR_047518  p.His1297Arg   Polymorphism  rs3731722   -
AOX1      Q06278     VAR_061136  p.Gln314Arg    Polymorphism  rs58185012  -
AOX1      Q06278     VAR_070256  p.Arg921His    Polymorphism  rs56199635  -
AOX1      Q06278     VAR_070257  p.Asn1135Ser   Polymorphism  rs55754655  -
AOX1      Q06278     VAR_070258  p.Ser1271Leu   Polymorphism  rs141786030 -
AP1AR     Q63HQ0     VAR_050769  p.Thr297Ile    Polymorphism  rs34900583  -
AP1B1     Q10567     VAR_062816  p.Thr777Ala    Polymorphism  rs2857465   -
AP1G1     O43747     VAR_013572  p.Pro685His    Polymorphism  rs904763    -
AP1G1     O43747     VAR_048194  p.Val195Gly    Polymorphism  rs36037071  -
AP1G2     O75843     VAR_024363  p.Ser377Phe    Polymorphism  rs12897422  -
AP1M1     Q9BXS5     VAR_036536  p.Arg303Gln    Unclassified  -           A breast cancer sample
AP2A1     O95782     VAR_060544  p.Pro270Leu    Polymorphism  rs17851121  -
AP2S1     P53680     VAR_069570  p.Arg15Cys     Disease       -           Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740]
AP2S1     P53680     VAR_069571  p.Arg15His     Disease       -           Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740]
AP2S1     P53680     VAR_069572  p.Arg15Leu     Disease       -           Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740]
AP3B1     O00203     VAR_011596  p.Leu580Arg    Disease       -           Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233]
AP3B1     O00203     VAR_058404  p.Val585Glu    Polymorphism  rs6453373   -
AP3D1     O14617     VAR_033517  p.Gly541Arg    Polymorphism  rs34569645  -
AP3D1     O14617     VAR_033518  p.Ile1072Val   Polymorphism  rs25673     -
AP3S1     Q92572     VAR_059111  p.Pro158Leu    Polymorphism  rs7733604   -
AP4B1     Q9Y6B7     VAR_030804  p.Leu480Ser    Polymorphism  rs1217401   -
AP4E1     Q9UPM8     VAR_031621  p.Cys163Arg    Polymorphism  rs2306331   -
AP5M1     Q9H0R1     VAR_055484  p.Gly226Arg    Polymorphism  rs10137359  -
AP5M1     Q9H0R1     VAR_055485  p.Glu379Asp    Polymorphism  rs10140245  -
AP5Z1     O43299     VAR_049511  p.Ser94Cys     Polymorphism  rs11549839  -
APBA1     Q02410     VAR_050664  p.Ser184Ala    Polymorphism  rs34788368  -
APBA2     Q99767     VAR_050665  p.Leu311Pro    Polymorphism  rs8040932   -
APBA3     O96018     VAR_011822  p.Ile527Phe    Polymorphism  rs1045236   -
APBA3     O96018     VAR_020134  p.Lys276Thr    Polymorphism  rs3746119   -
APBA3     O96018     VAR_047952  p.Cys376Arg    Polymorphism  rs8102086   -
APBA3     O96018     VAR_050666  p.Trp154Leu    Polymorphism  rs35932323  -
APBB1IP   Q7Z5R6     VAR_050098  p.Thr404Ala    Polymorphism  rs34081356  -
APBB1IP   Q7Z5R6     VAR_059447  p.Ala617Thr    Polymorphism  rs7903226   -
APBB1     O00213     VAR_014444  p.Met327Val    Polymorphism  rs1800423   -
APBB1     O00213     VAR_014445  p.Asn396Ser    Polymorphism  rs1800425   -
APBB2     Q92870     VAR_069029  p.Arg179Gln    Polymorphism  rs4861358   -
APBB3     O95704     VAR_024702  p.Cys231Arg    Polymorphism  rs250430    -
APBB3     O95704     VAR_029518  p.Gly165Arg    Polymorphism  rs7715021   -
APC2      O95996     VAR_037703  p.Ala562Ser    Unclassified  -           A breast cancer sample
APC2      O95996     VAR_037704  p.Gly2003Ser   Unclassified  -           A breast cancer sample
APC2      O95996     VAR_037705  p.Ser2241Ala   Polymorphism  rs265277    -
APCDD1L   Q8NCL9     VAR_029625  p.Cys30Arg     Polymorphism  rs3946003   -
APCDD1L   Q8NCL9     VAR_029626  p.Tyr80His     Polymorphism  rs7265854   -
APCDD1L   Q8NCL9     VAR_029627  p.Arg261Cys    Polymorphism  rs16981999  -
APCDD1L   Q8NCL9     VAR_050668  p.Arg83Gln     Polymorphism  rs7265902   -
APCDD1    Q8J025     VAR_050667  p.Val150Ile    Polymorphism  rs3748415   -
APCDD1    Q8J025     VAR_063497  p.Leu9Arg      Disease       -           Hypotrichosis 1 (HYPT1) [MIM:605389]
APC       P25054     VAR_005032  p.Ser171Ile    Disease       -           Familial adenomatous polyposis (FAP) [MIM:175100]
APC       P25054     VAR_005033  p.Arg414Cys    Disease       rs137854567 Familial adenomatous polyposis (FAP) [MIM:175100]
APC       P25054     VAR_005034  p.Ser784Thr    Disease       -           Familial adenomatous polyposis (FAP) [MIM:175100]
APC       P25054     VAR_005035  p.Gly817Cys    Disease       -           Gastric cancer (GASC) [MIM:613659]
APC       P25054     VAR_005036  p.Ile880Thr    Unclassified  -           Colorectal carcinoma
APC       P25054     VAR_005036  p.Ile880Thr    Disease       -           Gastric cancer (GASC) [MIM:613659]
APC       P25054     VAR_005037  p.Ser906Tyr    Unclassified  -           Colorectal tumor
APC       P25054     VAR_005038  p.Glu911Gly    Disease       -           Familial adenomatous polyposis (FAP) [MIM:175100]
APC       P25054     VAR_005039  p.Asn942Asp    Disease       -           Gastric cancer (GASC) [MIM:613659]
APC       P25054     VAR_005040  p.Tyr1027Cys   Unclassified  -           Colorectal tumor
APC       P25054     VAR_005041  p.Asn1118Asp   Polymorphism  -           -
APC       P25054     VAR_005042  p.Gly1120Glu   Disease       rs28933379  Gastric cancer (GASC) [MIM:613659]
APC       P25054     VAR_005043  p.Arg1171His   Disease       -           Gastric cancer (GASC) [MIM:613659]
APC       P25054     VAR_005044  p.Pro1176Leu   Disease       -           Familial adenomatous polyposis (FAP) [MIM:175100]
APC       P25054     VAR_005045  p.Phe1197Ser   Disease       -           Gastric cancer (GASC) [MIM:613659]
APC       P25054     VAR_005046  p.Ile1259Thr   Disease       -           Gastric cancer (GASC) [MIM:613659]
APC       P25054     VAR_005047  p.Thr1292Met   Polymorphism  -           -
APC       P25054     VAR_005048  p.Ile1304Val   Polymorphism  -           -
APC       P25054     VAR_005049  p.Ile1307Lys   Polymorphism  rs1801155   -
APC       P25054     VAR_005050  p.Gly1312Glu   Disease       -           Gastric cancer (GASC) [MIM:613659]
APC       P25054     VAR_005051  p.Thr1313Ala   Disease       -           Familial adenomatous polyposis (FAP) [MIM:175100]
APC       P25054     VAR_005052  p.Val1326Ala   Disease       -           Gastric cancer (GASC) [MIM:613659]
APC       P25054     VAR_005053  p.Arg1348Trp   Disease       -           Familial adenomatous polyposis (FAP) [MIM:175100]
APC       P25054     VAR_005054  p.Asp1422His   Unclassified  -           Colorectal tumor
APC       P25054     VAR_005055  p.Gly2502Ser   Polymorphism  rs2229995   -
APC       P25054     VAR_005056  p.Ser2621Cys   Disease       rs72541816  Familial adenomatous polyposis (FAP) [MIM:175100]
APC       P25054     VAR_005057  p.Leu2839Phe   Disease       -           Familial adenomatous polyposis (FAP) [MIM:175100]
APC       P25054     VAR_008992  p.Arg1171Cys   Polymorphism  -           -
APC       P25054     VAR_008993  p.Val1822Asp   Polymorphism  rs459552    -
APC       P25054     VAR_008994  p.Ile2738Thr   Polymorphism  -           -
APC       P25054     VAR_009613  p.Arg99Trp     Unclassified  -           -
APC       P25054     VAR_009614  p.Ser722Gly    Disease       -           Familial adenomatous polyposis (FAP) [MIM:175100]
APC       P25054     VAR_009615  p.Glu1057Gly   Unclassified  -           -
APC       P25054     VAR_009616  p.Ala1184Pro   Disease       -           Familial adenomatous polyposis (FAP) [MIM:175100]
APC       P25054     VAR_009617  p.Glu1317Gln   Polymorphism  rs1801166   -
APC       P25054     VAR_012975  p.Val890Ile    Unclassified  -           Colorectal carcinoma
APC       P25054     VAR_012976  p.Ala1508Val   Unclassified  -           Colorectal carcinoma from a patient with MMRCS
APC