humsavar.txt
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UniProt - Swiss-Prot Protein Knowledgebase
Swiss Institute of Bioinformatics (SIB); 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: 57.10 of 03-Nov-2009
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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: 22770
Polymorphisms: 34481
Unclassified variants: 2243
Total: 59494
Main Swiss-Prot Seq AA Type of
gene name Entry name AC FTId pos change variant Disease name
_________ ___________________ __________ _____ ______ ____________ ______________________________
A1BG A1BG_HUMAN P04217 VAR_018369 52 R -> H Polymorphism
A1BG A1BG_HUMAN P04217 VAR_018370 395 H -> R Polymorphism
A1CF A1CF_HUMAN Q9NQ94 VAR_052201 555 V -> M Polymorphism
A1CF A1CF_HUMAN Q9NQ94 VAR_059821 558 A -> S Polymorphism
A2M A2MG_HUMAN P01023 VAR_026820 639 D -> N Polymorphism
A2M A2MG_HUMAN P01023 VAR_000012 704 R -> H Polymorphism
A2M A2MG_HUMAN P01023 VAR_026821 815 L -> Q Polymorphism
A2M A2MG_HUMAN P01023 VAR_000013 972 C -> Y Polymorphism
A2M A2MG_HUMAN P01023 VAR_000014 1000 V -> I Polymorphism
A2ML1 A2ML1_HUMAN A8K2U0 VAR_055463 207 G -> R Polymorphism
A2ML1 A2ML1_HUMAN A8K2U0 VAR_059083 850 E -> D Polymorphism
A2ML1 A2ML1_HUMAN A8K2U0 VAR_055464 970 C -> Y Polymorphism
A2ML1 A2ML1_HUMAN A8K2U0 VAR_055465 1131 T -> M Polymorphism
A2ML1 A2ML1_HUMAN A8K2U0 VAR_059084 1229 R -> H Polymorphism
A2ML1 A2ML1_HUMAN A8K2U0 VAR_055466 1412 T -> A Polymorphism
A4GALT A4GAT_HUMAN Q9NPC4 VAR_014296 37 M -> V Polymorphism
A4GALT A4GAT_HUMAN Q9NPC4 VAR_022320 163 Q -> R Polymorphism
A4GALT A4GAT_HUMAN Q9NPC4 VAR_014297 183 M -> K Unclassified
A4GALT A4GAT_HUMAN Q9NPC4 VAR_017508 187 G -> D Polymorphism
A4GALT A4GAT_HUMAN Q9NPC4 VAR_017509 251 P -> L Polymorphism
A4GNT A4GCT_HUMAN Q9UNA3 VAR_022096 218 A -> D Polymorphism
AAAS AAAS_HUMAN Q9NRG9 VAR_012804 15 Q -> K Disease Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS AAAS_HUMAN Q9NRG9 VAR_037060 108 K -> M Polymorphism
AAAS AAAS_HUMAN Q9NRG9 VAR_012805 160 H -> R Disease Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AAAS AAAS_HUMAN Q9NRG9 VAR_012806 263 S -> P Disease Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
AACS AACS_HUMAN Q86V21 VAR_038303 118 I -> V Polymorphism
AADAC AAAD_HUMAN P22760 VAR_014798 281 I -> V Polymorphism
AADACL1 ADCL1_HUMAN Q6PIU2 VAR_047099 19 V -> F Polymorphism
AADACL1 ADCL1_HUMAN Q6PIU2 VAR_047100 71 K -> Q Polymorphism
AADACL1 ADCL1_HUMAN Q6PIU2 VAR_047101 343 L -> M Polymorphism
AADACL2 ADCL2_HUMAN Q6P093 VAR_038140 186 A -> S Polymorphism
AADACL2 ADCL2_HUMAN Q6P093 VAR_038141 343 L -> I Polymorphism
AADACL3 ADCL3_HUMAN Q5VUY0 VAR_056026 337 P -> L Polymorphism
AAGAB AAGAB_HUMAN Q6PD74 VAR_021533 132 I -> L Polymorphism
AAK1 AAK1_HUMAN Q2M2I8 VAR_040348 59 I -> V Polymorphism
AAK1 AAK1_HUMAN Q2M2I8 VAR_031129 509 K -> Q Polymorphism
AAK1 AAK1_HUMAN Q2M2I8 VAR_040349 533 Q -> H Polymorphism
AAK1 AAK1_HUMAN Q2M2I8 VAR_040350 603 V -> A Polymorphism
AAK1 AAK1_HUMAN Q2M2I8 VAR_040351 694 T -> M Polymorphism
AAK1 AAK1_HUMAN Q2M2I8 VAR_040352 725 P -> T Polymorphism
AAK1 AAK1_HUMAN Q2M2I8 VAR_040353 771 P -> R Polymorphism
AAK1 AAK1_HUMAN Q2M2I8 VAR_040354 835 D -> G Polymorphism
AAMP AAMP_HUMAN Q13685 VAR_037061 250 I -> V Polymorphism
AANAT SNAT_HUMAN Q16613 VAR_048168 15 R -> C Polymorphism
AANAT SNAT_HUMAN Q16613 VAR_055086 129 A -> T Unclassified
AARD AARD_HUMAN Q4LEZ3 VAR_043570 96 G -> R Polymorphism
AARS SYAC_HUMAN P49588 VAR_028204 275 G -> D Polymorphism
AARS2 SYAM_HUMAN Q5JTZ9 VAR_027609 339 I -> V Polymorphism
AARS2 SYAM_HUMAN Q5JTZ9 VAR_027610 484 A -> D Polymorphism
AARS2 SYAM_HUMAN Q5JTZ9 VAR_057357 850 M -> V Polymorphism
AASDH ACSF4_HUMAN Q4L235 VAR_038309 368 K -> R Polymorphism
AASDH ACSF4_HUMAN Q4L235 VAR_038310 747 A -> V Polymorphism
AASDH ACSF4_HUMAN Q4L235 VAR_038311 774 V -> I Polymorphism
AASDH ACSF4_HUMAN Q4L235 VAR_038312 865 T -> A Polymorphism
AASDH ACSF4_HUMAN Q4L235 VAR_038313 1030 D -> Y Polymorphism
AAT1 AAT1_HUMAN Q7Z4T9 VAR_030243 207 P -> A Polymorphism
AAT1 AAT1_HUMAN Q7Z4T9 VAR_030244 253 S -> T Polymorphism
AAT1 AAT1_HUMAN Q7Z4T9 VAR_030245 320 S -> C Polymorphism
AATK LMTK1_HUMAN Q6ZMQ8 VAR_032679 81 S -> F Disease An ovarian mucinous carcinoma sample
AATK LMTK1_HUMAN Q6ZMQ8 VAR_032680 97 L -> V Disease A lung adenocarcinoma sample
AATK LMTK1_HUMAN Q6ZMQ8 VAR_032681 104 M -> V Disease An ovarian mucinous carcinoma sample
AATK LMTK1_HUMAN Q6ZMQ8 VAR_027267 118 T -> M Polymorphism
AATK LMTK1_HUMAN Q6ZMQ8 VAR_032682 703 G -> C Polymorphism
AATK LMTK1_HUMAN Q6ZMQ8 VAR_032683 815 S -> R Polymorphism
AATK LMTK1_HUMAN Q6ZMQ8 VAR_032684 923 S -> L Polymorphism
AATK LMTK1_HUMAN Q6ZMQ8 VAR_032685 1160 E -> K Polymorphism
AATK LMTK1_HUMAN Q6ZMQ8 VAR_032686 1192 P -> S Polymorphism
AATK LMTK1_HUMAN Q6ZMQ8 VAR_032687 1266 F -> S Polymorphism
AATK LMTK1_HUMAN Q6ZMQ8 VAR_032688 1332 A -> T Polymorphism
ABAT GABT_HUMAN P80404 VAR_018979 56 Q -> R Polymorphism
ABAT GABT_HUMAN P80404 VAR_008883 220 R -> K Disease GABA-AT deficiency [MIM:137150]
ABCA1 ABCA1_HUMAN O95477 VAR_017529 85 P -> L Disease High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
ABCA1 ABCA1_HUMAN O95477 VAR_035724 210 E -> D Disease A colorectal cancer sample
ABCA1 ABCA1_HUMAN O95477 VAR_012618 219 R -> K Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_012619 230 R -> C Disease High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
ABCA1 ABCA1_HUMAN O95477 VAR_012620 255 A -> T Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_009145 399 V -> A Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_009146 587 R -> W Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_009147 590 W -> S Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_009148 597 Q -> R Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_012621 771 V -> M Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_012622 774 T -> P Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_012623 776 K -> N Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_012624 825 V -> I Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_012625 883 I -> M Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_035725 917 D -> Y Disease A colorectal cancer sample
ABCA1 ABCA1_HUMAN O95477 VAR_012626 929 T -> I Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_037968 935 N -> H Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_009150 935 N -> S Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_009151 937 A -> V Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_012627 1046 A -> D Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_037969 1054 V -> I Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_012628 1091 M -> T Disease High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
ABCA1 ABCA1_HUMAN O95477 VAR_017530 1099 D -> Y Disease High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
ABCA1 ABCA1_HUMAN O95477 VAR_012629 1172 E -> D Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_017016 1181 S -> F Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_009152 1289 D -> N Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_035726 1407 A -> T Disease A colorectal cancer sample
ABCA1 ABCA1_HUMAN O95477 VAR_009153 1477 C -> R Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_012630 1506 S -> L Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_009154 1517 I -> R Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_012638 1555 T -> I Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_012631 1587 R -> K Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_012632 1611 N -> D Unclassified
ABCA1 ABCA1_HUMAN O95477 VAR_012639 1648 P -> L Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_037970 1680 R -> W Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_012633 1731 S -> C Polymorphism
ABCA1 ABCA1_HUMAN O95477 VAR_009155 1800 N -> H Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_037971 2009 F -> S Disease High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
ABCA1 ABCA1_HUMAN O95477 VAR_012635 2081 R -> W Disease High density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]
ABCA1 ABCA1_HUMAN O95477 VAR_035727 2109 A -> T Disease A colorectal cancer sample
ABCA1 ABCA1_HUMAN O95477 VAR_012636 2150 P -> L Disease High density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]
ABCA1 ABCA1_HUMAN O95477 VAR_012637 2168 P -> L Polymorphism
ABCA10 ABCAA_HUMAN Q8WWZ4 VAR_028384 203 P -> S Polymorphism
ABCA10 ABCAA_HUMAN Q8WWZ4 VAR_028385 287 V -> I Polymorphism
ABCA10 ABCAA_HUMAN Q8WWZ4 VAR_028386 916 T -> M Polymorphism
ABCA10 ABCAA_HUMAN Q8WWZ4 VAR_055469 1322 R -> W Polymorphism
ABCA12 ABCAC_HUMAN Q86UK0 VAR_055473 199 W -> C Polymorphism
ABCA12 ABCAC_HUMAN Q86UK0 VAR_055474 237 N -> H Polymorphism
ABCA12 ABCAC_HUMAN Q86UK0 VAR_055475 274 Q -> R Polymorphism
ABCA12 ABCAC_HUMAN Q86UK0 VAR_055476 287 R -> G Polymorphism
ABCA12 ABCAC_HUMAN Q86UK0 VAR_019597 459 S -> T Polymorphism
ABCA12 ABCAC_HUMAN Q86UK0 VAR_027444 550 E -> G Polymorphism
ABCA12 ABCAC_HUMAN Q86UK0 VAR_027445 777 T -> S Polymorphism
ABCA12 ABCAC_HUMAN Q86UK0 VAR_027446 1251 G -> D Polymorphism
ABCA12 ABCAC_HUMAN Q86UK0 VAR_019598 1380 N -> S Disease Ichthyosis lamellar type 2 (LI2) [MIM:601277]
ABCA12 ABCAC_HUMAN Q86UK0 VAR_019599 1381 G -> E Disease Ichthyosis lamellar type 2 (LI2) [MIM:601277]
ABCA12 ABCAC_HUMAN Q86UK0 VAR_019600 1514 R -> H Disease Ichthyosis lamellar type 2 (LI2) [MIM:601277]
ABCA12 ABCAC_HUMAN Q86UK0 VAR_019601 1539 E -> K Disease Ichthyosis lamellar type 2 (LI2) [MIM:601277]
ABCA12 ABCAC_HUMAN Q86UK0 VAR_027447 1546 R -> C Polymorphism
ABCA12 ABCAC_HUMAN Q86UK0 VAR_019602 1651 G -> S Disease Ichthyosis lamellar type 2 (LI2) [MIM:601277]
ABCA12 ABCAC_HUMAN Q86UK0 VAR_027448 2064 E -> K Polymorphism
ABCA12 ABCAC_HUMAN Q86UK0 VAR_027449 2365 D -> N Disease Ichthyosis harlequin (HI) [MIM:242500]
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059087 506 P -> L Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059088 555 R -> H Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059089 767 I -> S Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059090 799 E -> K Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059091 1434 I -> V Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_055470 1508 T -> I Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059092 1540 F -> L Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059093 1889 I -> K Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059094 2033 N -> D Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059095 2154 S -> L Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059096 2178 A -> E Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059097 2212 L -> S Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059098 2436 K -> R Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059099 2537 S -> A Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059100 2674 R -> W Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059101 3142 A -> V Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059102 3851 Y -> F Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059103 4277 N -> D Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059104 4302 Q -> R Polymorphism
ABCA13 ABCAD_HUMAN Q86UQ4 VAR_059105 4335 P -> A Polymorphism
ABCA2 ABCA2_HUMAN Q9BZC7 VAR_044526 583 H -> P Polymorphism
ABCA2 ABCA2_HUMAN Q9BZC7 VAR_044527 674 F -> V Polymorphism
ABCA3 ABCA3_HUMAN Q99758 VAR_023497 101 L -> P Disease Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]
ABCA3 ABCA3_HUMAN Q99758 VAR_025061 140 N -> H Polymorphism
ABCA3 ABCA3_HUMAN Q99758 VAR_035728 290 L -> M Disease A breast cancer sample
ABCA3 ABCA3_HUMAN Q99758 VAR_023498 568 N -> D Disease Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]
ABCA3 ABCA3_HUMAN Q99758 VAR_025062 766 P -> S Polymorphism
ABCA3 ABCA3_HUMAN Q99758 VAR_035729 801 E -> D Disease A breast cancer sample
ABCA3 ABCA3_HUMAN Q99758 VAR_035730 1069 H -> Q Disease A breast cancer sample
ABCA3 ABCA3_HUMAN Q99758 VAR_023499 1553 L -> P Disease Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]
ABCA3 ABCA3_HUMAN Q99758 VAR_023500 1591 Q -> P Disease Pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [MIM:610921]
ABCA4 ABCA4_HUMAN P78363 VAR_012493 11 L -> P Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008398 18 R -> W Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008399 24 R -> H Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008400 54 C -> Y Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012495 58 N -> K Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012496 60 A -> E Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012497 60 A -> T Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008492 60 A -> V Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008401 65 G -> E Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_008401 65 G -> E Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012498 68 P -> L Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012499 68 P -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012500 72 G -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008402 75 C -> G Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012501 77 V -> E Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008403 96 N -> D Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008404 96 N -> H Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012502 100 S -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012503 152 R -> Q Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012504 156 I -> V Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012505 190 Q -> H Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008405 192 A -> T Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012506 206 S -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008406 212 R -> C Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_008406 212 R -> C Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012507 212 R -> H Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012508 220 R -> C Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_035736 224 T -> M Disease A breast cancer sample
ABCA4 ABCA4_HUMAN P78363 VAR_012509 230 C -> S Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012510 244 L -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012511 247 N -> S Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008407 249 D -> G Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008408 300 T -> N Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012512 309 P -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012513 328 E -> V Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012514 333 R -> W Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008409 336 S -> C Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012515 339 W -> G Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008410 340 Y -> D Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012516 380 N -> K Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008411 407 A -> V Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_008411 407 A -> V Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012517 423 H -> R Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_008412 445 S -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008413 471 E -> K Disease Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 ABCA4_HUMAN P78363 VAR_008413 471 E -> K Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008414 523 D -> E Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012518 525 F -> C Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012519 537 R -> C Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008415 541 L -> P Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_008415 541 L -> P Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008415 541 L -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012520 549 A -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012521 550 G -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012522 552 V -> I Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_008416 572 R -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008417 572 R -> Q Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012523 602 R -> Q Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008418 602 R -> W Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012524 607 G -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012525 607 G -> W Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008419 608 F -> I Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012526 635 Q -> K Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012527 636 Q -> H Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008420 643 V -> G Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012528 643 V -> M Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008421 645 D -> N Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012529 653 R -> C Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012530 686 L -> S Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012531 716 T -> M Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_014703 752 S -> I Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012532 764 C -> Y Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012534 765 S -> N Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012533 765 S -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012535 767 V -> D Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012536 797 L -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008422 818 G -> E Disease Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 ABCA4_HUMAN P78363 VAR_008422 818 G -> E Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008423 821 W -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012537 824 I -> T Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008493 846 D -> H Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012538 849 V -> A Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008424 851 G -> D Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012539 854 A -> T Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008425 863 G -> A Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_008425 863 G -> A Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008425 863 G -> A Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012541 873 F -> L Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012542 897 T -> I Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008426 901 T -> A Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012543 914 H -> R Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_008427 931 V -> M Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012544 935 V -> A Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008428 943 R -> Q Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012545 943 R -> W Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012545 943 R -> W Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008429 957 Q -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012546 959 T -> I Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008430 965 N -> S Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012547 971 T -> N Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012548 972 T -> N Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012549 974 S -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008431 978 G -> C Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012550 989 V -> A Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012551 991 G -> R Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012552 1014 L -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012553 1019 T -> A Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012554 1019 T -> M Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012555 1022 E -> K Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012556 1031 K -> E Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008432 1036 E -> K Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008433 1038 A -> V Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_008433 1038 A -> V Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008433 1038 A -> V Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012557 1055 R -> W Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012558 1063 S -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008434 1071 S -> L Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008435 1072 V -> A Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012559 1087 E -> D Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008436 1087 E -> K Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012560 1091 G -> E Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012561 1097 R -> C Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012562 1108 R -> C Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012562 1108 R -> C Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012563 1108 R -> H Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012564 1108 R -> L Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008437 1112 T -> N Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008438 1122 E -> K Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_008438 1122 E -> K Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012565 1129 R -> C Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008439 1129 R -> L Disease Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 ABCA4_HUMAN P78363 VAR_008439 1129 R -> L Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008439 1129 R -> L Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012566 1148 K -> T Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_008440 1201 L -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008441 1204 D -> N Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012567 1250 L -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012568 1253 T -> M Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012569 1300 R -> Q Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008442 1314 P -> T Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_008443 1380 P -> L Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012570 1388 L -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012571 1399 E -> K Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008444 1406 H -> Y Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008445 1408 W -> L Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008446 1408 W -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008447 1428 T -> M Disease Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 ABCA4_HUMAN P78363 VAR_008448 1429 V -> A Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012572 1430 L -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008449 1433 V -> I Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008450 1439 G -> D Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008451 1440 F -> S Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012573 1440 F -> V Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012574 1443 R -> H Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008452 1486 P -> L Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012575 1488 C -> F Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008453 1488 C -> R Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008453 1488 C -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012576 1488 C -> Y Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008454 1490 C -> Y Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_008454 1490 C -> Y Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012577 1508 G -> C Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012578 1513 Q -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008455 1517 R -> S Disease Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 ABCA4_HUMAN P78363 VAR_012579 1525 L -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008456 1526 T -> M Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008457 1532 D -> N Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012580 1537 T -> M Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008458 1562 I -> T Disease Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 ABCA4_HUMAN P78363 VAR_008458 1562 I -> T Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_008458 1562 I -> T Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008458 1562 I -> T Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008459 1578 G -> R Disease Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 ABCA4_HUMAN P78363 VAR_012581 1598 A -> D Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_008460 1631 L -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012582 1637 A -> T Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012583 1640 R -> Q Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_012583 1640 R -> Q Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012583 1640 R -> Q Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008461 1640 R -> W Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_008461 1640 R -> W Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008462 1652 Y -> D Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012585 1689 S -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012586 1693 V -> I Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008463 1696 S -> N Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008464 1703 Q -> K Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012587 1705 R -> L Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008465 1729 L -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012588 1733 M -> T Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012589 1736 S -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012590 1748 G -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012592 1763 L -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012593 1776 P -> L Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012594 1780 P -> A Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008466 1794 A -> D Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012595 1799 N -> D Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012596 1805 N -> D Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012597 1817 E -> D Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_008467 1820 R -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008468 1838 H -> Y Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008469 1843 R -> W Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008494 1846 I -> T Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_008470 1868 N -> I Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012598 1884 V -> E Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012599 1885 E -> K Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008471 1886 G -> E Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012600 1896 V -> D Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008473 1898 R -> H Disease Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 ABCA4_HUMAN P78363 VAR_008473 1898 R -> H Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012601 1921 V -> M Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012602 1940 L -> P Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012602 1940 L -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008474 1948 P -> L Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_008475 1961 G -> E Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008475 1961 G -> E Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008476 1970 L -> F Disease Age-related macular degeneration type 2 (ARMD2) [MIM:153800]
ABCA4 ABCA4_HUMAN P78363 VAR_008476 1970 L -> F Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012603 1971 L -> R Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012604 1975 G -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008477 1977 G -> S Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008478 2027 L -> F Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008478 2027 L -> F Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008480 2030 R -> Q Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008480 2030 R -> Q Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012605 2035 L -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008495 2038 R -> W Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008481 2050 V -> L Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012606 2059 G -> A Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012607 2060 L -> R Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_012608 2071 Y -> F Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012609 2077 R -> G Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008482 2077 R -> W Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008483 2096 E -> K Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008484 2106 R -> C Disease Fundus flavimaculatus (FFM) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008484 2106 R -> C Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012610 2107 R -> C Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008485 2107 R -> H Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008486 2128 H -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008487 2131 E -> K Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008488 2139 R -> W Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012611 2146 G -> D Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_012612 2149 R -> L Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012613 2150 C -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008489 2150 C -> Y Disease Cone-rod dystrophy type 3 (CORD3) [MIM:604116]
ABCA4 ABCA4_HUMAN P78363 VAR_008489 2150 C -> Y Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008490 2160 K -> R Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_008491 2177 D -> N Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012614 2216 A -> V Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012615 2229 L -> P Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_012616 2241 L -> V Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA4 ABCA4_HUMAN P78363 VAR_009157 2255 S -> I Polymorphism
ABCA4 ABCA4_HUMAN P78363 VAR_012617 2263 R -> L Disease Stargardt disease type 1 (STGD1) [MIM:248200]
ABCA5 ABCA5_HUMAN Q8WWZ7 VAR_027571 93 Q -> K Polymorphism
ABCA5 ABCA5_HUMAN Q8WWZ7 VAR_048128 178 A -> T Polymorphism
ABCA5 ABCA5_HUMAN Q8WWZ7 VAR_027572 484 Q -> R Polymorphism
ABCA5 ABCA5_HUMAN Q8WWZ7 VAR_027573 753 M -> V Polymorphism
ABCA5 ABCA5_HUMAN Q8WWZ7 VAR_027574 832 A -> S Polymorphism
ABCA5 ABCA5_HUMAN Q8WWZ7 VAR_027575 960 M -> V Polymorphism
ABCA5 ABCA5_HUMAN Q8WWZ7 VAR_048129 1260 D -> G Polymorphism
ABCA6 ABCA6_HUMAN Q8N139 VAR_027576 282 V -> I Polymorphism
ABCA6 ABCA6_HUMAN Q8N139 VAR_027577 610 N -> Y Polymorphism
ABCA6 ABCA6_HUMAN Q8N139 VAR_027578 698 M -> I Polymorphism
ABCA6 ABCA6_HUMAN Q8N139 VAR_027579 875 M -> I Polymorphism
ABCA6 ABCA6_HUMAN Q8N139 VAR_027580 1322 N -> S Polymorphism
ABCA7 ABCA7_HUMAN Q8IZY2 VAR_027581 188 E -> G Polymorphism
ABCA7 ABCA7_HUMAN Q8IZY2 VAR_027582 319 T -> A Polymorphism
ABCA7 ABCA7_HUMAN Q8IZY2 VAR_027583 395 H -> R Polymorphism
ABCA7 ABCA7_HUMAN Q8IZY2 VAR_027584 463 R -> H Polymorphism
ABCA7 ABCA7_HUMAN Q8IZY2 VAR_027585 718 N -> T Polymorphism
ABCA7 ABCA7_HUMAN Q8IZY2 VAR_027586 1349 R -> Q Polymorphism
ABCA7 ABCA7_HUMAN Q8IZY2 VAR_027587 1527 G -> A Polymorphism
ABCA7 ABCA7_HUMAN Q8IZY2 VAR_027588 1686 Q -> R Polymorphism
ABCA7 ABCA7_HUMAN Q8IZY2 VAR_027589 2045 A -> S Polymorphism
ABCA8 ABCA8_HUMAN O94911 VAR_027590 256 T -> A Polymorphism
ABCA8 ABCA8_HUMAN O94911 VAR_027591 331 G -> S Polymorphism
ABCA8 ABCA8_HUMAN O94911 VAR_048130 416 A -> V Polymorphism
ABCA8 ABCA8_HUMAN O94911 VAR_027592 489 Y -> F Polymorphism
ABCA8 ABCA8_HUMAN O94911 VAR_048131 619 L -> R Polymorphism
ABCA8 ABCA8_HUMAN O94911 VAR_027593 680 C -> G Polymorphism
ABCA8 ABCA8_HUMAN O94911 VAR_048132 1430 G -> S Polymorphism
ABCA9 ABCA9_HUMAN Q8IUA7 VAR_027594 353 R -> H Polymorphism
ABCA9 ABCA9_HUMAN Q8IUA7 VAR_027595 785 N -> S Polymorphism
ABCA9 ABCA9_HUMAN Q8IUA7 VAR_027596 1306 K -> T Polymorphism
ABCA9 ABCA9_HUMAN Q8IUA7 VAR_027597 1356 G -> S Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_022276 17 F -> L Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_014704 21 N -> D Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_055423 44 N -> S Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_055424 80 A -> E Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_015001 103 F -> L Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_018351 108 E -> K Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_015002 185 G -> V Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_055425 261 I -> V Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_015003 400 S -> N Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_022277 566 E -> K Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_022278 593 R -> C Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_055426 599 A -> T Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_055427 669 R -> C Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_055428 801 V -> M Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_055429 829 I -> V Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_022279 836 I -> V Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_035737 887 K -> N Disease A colorectal cancer sample
ABCB1 MDR1_HUMAN P08183 VAR_013361 893 S -> A Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_013362 893 S -> T Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_018352 986 M -> V Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_015004 999 A -> T Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_022280 1051 P -> A Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_015005 1107 Q -> P Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_022281 1141 S -> T Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_018353 1251 V -> I Polymorphism
ABCB10 ABCBA_HUMAN Q9NRK6 VAR_013702 150 A -> S Polymorphism
ABCB10 ABCBA_HUMAN Q9NRK6 VAR_048133 242 R -> G Polymorphism
ABCB10 ABCBA_HUMAN Q9NRK6 VAR_035735 471 R -> T Disease A breast cancer sample
ABCB10 ABCBA_HUMAN Q9NRK6 VAR_031435 545 D -> N Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_055472 56 S -> L Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_030386 186 E -> G Disease Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 ABCBB_HUMAN O95342 VAR_030387 206 I -> V Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_030388 238 G -> V Disease Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 ABCBB_HUMAN O95342 VAR_035349 284 V -> A Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_013332 284 V -> L Disease Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 ABCBB_HUMAN O95342 VAR_010271 297 E -> G Disease Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 ABCBB_HUMAN O95342 VAR_010271 297 E -> G Disease Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 ABCBB_HUMAN O95342 VAR_030389 299 R -> K Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_030390 336 C -> S Disease Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 ABCBB_HUMAN O95342 VAR_043074 415 R -> Q Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_030391 432 R -> T Disease Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 ABCBB_HUMAN O95342 VAR_013333 444 V -> A Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_059106 444 V -> D Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_059107 444 V -> G Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_013334 461 K -> E Disease Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 ABCBB_HUMAN O95342 VAR_013335 482 D -> G Disease Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 ABCBB_HUMAN O95342 VAR_030392 570 A -> T Disease Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 ABCBB_HUMAN O95342 VAR_043075 591 N -> S Unclassified
ABCB11 ABCBB_HUMAN O95342 VAR_035350 616 R -> G Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_035351 619 T -> A Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_043076 676 D -> Y Unclassified
ABCB11 ABCBB_HUMAN O95342 VAR_030393 677 M -> V Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_035352 698 R -> H Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_043077 855 G -> R Unclassified
ABCB11 ABCBB_HUMAN O95342 VAR_035353 865 A -> V Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_030394 923 T -> P Disease Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 ABCBB_HUMAN O95342 VAR_030395 926 A -> P Disease Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 ABCBB_HUMAN O95342 VAR_035354 958 R -> Q Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_013336 982 G -> R Disease Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 ABCBB_HUMAN O95342 VAR_013337 1004 G -> D Disease Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 ABCBB_HUMAN O95342 VAR_030396 1050 R -> C Disease Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 ABCBB_HUMAN O95342 VAR_030397 1128 R -> H Disease Benign recurrent intrahepatic cholestasis type 2 (BRIC2) [MIM:605479]
ABCB11 ABCBB_HUMAN O95342 VAR_013338 1153 R -> C Disease Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB11 ABCBB_HUMAN O95342 VAR_030398 1186 E -> K Polymorphism
ABCB11 ABCBB_HUMAN O95342 VAR_013339 1268 R -> Q Disease Progressive familial intrahepatic cholestasis type 2 (PFIC2) [MIM:601847]
ABCB4 MDR3_HUMAN P21439 VAR_043078 87 D -> E Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_043079 95 P -> S Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_043080 138 W -> R Disease Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 MDR3_HUMAN P21439 VAR_043081 150 R -> K Disease Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
ABCB4 MDR3_HUMAN P21439 VAR_043082 165 F -> I Disease Cholelithiasis [MIM:600803]
ABCB4 MDR3_HUMAN P21439 VAR_023501 175 T -> A Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_020223 238 L -> V Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_030763 263 I -> V Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_043083 301 M -> T Disease Cholelithiasis [MIM:600803]
ABCB4 MDR3_HUMAN P21439 VAR_023502 320 S -> F Disease Cholelithiasis [MIM:600803]
ABCB4 MDR3_HUMAN P21439 VAR_023502 320 S -> F Disease Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
ABCB4 MDR3_HUMAN P21439 VAR_043084 346 S -> I Disease Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 MDR3_HUMAN P21439 VAR_043085 367 I -> V Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_043086 395 E -> G Disease Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 MDR3_HUMAN P21439 VAR_043087 424 T -> A Disease Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 MDR3_HUMAN P21439 VAR_043088 425 V -> M Disease Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 MDR3_HUMAN P21439 VAR_043089 450 E -> G Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_043090 528 E -> D Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_043091 535 G -> D Disease Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 MDR3_HUMAN P21439 VAR_043092 541 I -> F Disease Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 MDR3_HUMAN P21439 VAR_023503 546 A -> D Disease Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
ABCB4 MDR3_HUMAN P21439 VAR_043093 556 L -> R Disease Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 MDR3_HUMAN P21439 VAR_043094 564 D -> G Disease Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 MDR3_HUMAN P21439 VAR_043095 590 R -> Q Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_043096 591 L -> Q Disease Cholelithiasis [MIM:600803]
ABCB4 MDR3_HUMAN P21439 VAR_030765 651 T -> N Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_020225 652 R -> G Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_043097 711 F -> S Disease Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 MDR3_HUMAN P21439 VAR_043098 742 G -> S Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_043099 762 G -> E Disease Intrahepatic cholestasis of pregnancy (ICP) [MIM:147480]
ABCB4 MDR3_HUMAN P21439 VAR_043100 764 I -> L Unclassified
ABCB4 MDR3_HUMAN P21439 VAR_043101 775 T -> M Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_024359 788 R -> Q Polymorphism
ABCB4 MDR3_HUMAN P21439 VAR_043102 934 A -> T Disease Cholelithiasis [MIM:600803]
ABCB4 MDR3_HUMAN P21439 VAR_043103 983 G -> S Disease Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
ABCB4 MDR3_HUMAN P21439 VAR_043104 1082 L -> Q Unclassified
ABCB4 MDR3_HUMAN P21439 VAR_023504 1168 P -> S Disease Cholelithiasis [MIM:600803]
ABCB5 ABCB5_HUMAN Q2M3G0 VAR_028387 115 K -> E Polymorphism
ABCB5 ABCB5_HUMAN Q2M3G0 VAR_028388 224 K -> R Polymorphism
ABCB5 ABCB5_HUMAN Q2M3G0 VAR_035731 230 E -> V Disease A colorectal cancer sample
ABCB5 ABCB5_HUMAN Q2M3G0 VAR_033456 460 Q -> H Polymorphism
ABCB5 ABCB5_HUMAN Q2M3G0 VAR_028389 470 A -> T Polymorphism
ABCB5 ABCB5_HUMAN Q2M3G0 VAR_028390 525 K -> E Polymorphism
ABCB6 ABCB6_HUMAN Q9NP58 VAR_035732 69 R -> G Disease A breast cancer sample
ABCB6 ABCB6_HUMAN Q9NP58 VAR_047552 293 L -> V Polymorphism
ABCB6 ABCB6_HUMAN Q9NP58 VAR_029749 648 R -> Q Polymorphism
ABCB7 ABCB7_HUMAN O75027 VAR_022872 315 R -> G Polymorphism
ABCB7 ABCB7_HUMAN O75027 VAR_022873 346 F -> I Polymorphism
ABCB7 ABCB7_HUMAN O75027 VAR_009156 400 I -> M Disease X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]
ABCB7 ABCB7_HUMAN O75027 VAR_022874 411 V -> L Disease X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]
ABCB7 ABCB7_HUMAN O75027 VAR_012640 433 E -> K Disease X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]
ABCB7 ABCB7_HUMAN O75027 VAR_055471 580 A -> V Polymorphism
ABCB7 ABCB7_HUMAN O75027 VAR_037972 581 V -> A Polymorphism
ABCB8 ABCB8_HUMAN Q9NUT2 VAR_013331 152 V -> I Polymorphism
ABCB8 ABCB8_HUMAN Q9NUT2 VAR_035733 165 I -> T Disease A breast cancer sample
ABCB8 ABCB8_HUMAN Q9NUT2 VAR_035734 690 A -> G Disease A breast cancer sample
ABCB9 ABCB9_HUMAN Q9NP78 VAR_013701 121 V -> M Polymorphism
ABCC1 MRP1_HUMAN P33527 VAR_013317 43 C -> S Polymorphism
ABCC1 MRP1_HUMAN P33527 VAR_013318 73 T -> I Polymorphism
ABCC1 MRP1_HUMAN P33527 VAR_013319 117 T -> M Polymorphism
ABCC1 MRP1_HUMAN P33527 VAR_013320 433 R -> S Polymorphism
ABCC1 MRP1_HUMAN P33527 VAR_011488 633 R -> Q Polymorphism
ABCC1 MRP1_HUMAN P33527 VAR_011489 671 G -> V Polymorphism
ABCC1 MRP1_HUMAN P33527 VAR_013321 723 R -> Q Polymorphism
ABCC1 MRP1_HUMAN P33527 VAR_055384 861 A -> T Polymorphism
ABCC1 MRP1_HUMAN P33527 VAR_055385 1047 C -> S Polymorphism
ABCC1 MRP1_HUMAN P33527 VAR_013322 1058 R -> Q Polymorphism
ABCC1 MRP1_HUMAN P33527 VAR_055386 1146 V -> I Polymorphism
ABCC1 MRP1_HUMAN P33527 VAR_013323 1512 S -> L Polymorphism
ABCC10 MRP7_HUMAN Q5T3U5 VAR_028391 948 I -> T Polymorphism
ABCC11 ABCCB_HUMAN Q96J66 VAR_025437 19 R -> H Polymorphism
ABCC11 ABCCB_HUMAN Q96J66 VAR_025438 180 G -> R Polymorphism
ABCC11 ABCCB_HUMAN Q96J66 VAR_048144 317 A -> E Polymorphism
ABCC11 ABCCB_HUMAN Q96J66 VAR_048145 546 T -> M Polymorphism
ABCC11 ABCCB_HUMAN Q96J66 VAR_048146 648 V -> I Polymorphism
ABCC11 ABCCB_HUMAN Q96J66 VAR_048147 687 V -> I Polymorphism
ABCC11 ABCCB_HUMAN Q96J66 VAR_048148 735 K -> R Polymorphism
ABCC11 ABCCB_HUMAN Q96J66 VAR_048149 1344 H -> R Polymorphism
ABCC12 MRP9_HUMAN Q96J65 VAR_028392 9 I -> L Polymorphism
ABCC12 MRP9_HUMAN Q96J65 VAR_028393 102 A -> E Polymorphism
ABCC12 MRP9_HUMAN Q96J65 VAR_028394 587 N -> Y Polymorphism
ABCC12 MRP9_HUMAN Q96J65 VAR_048139 690 E -> V Polymorphism
ABCC12 MRP9_HUMAN Q96J65 VAR_028395 894 K -> M Polymorphism
ABCC12 MRP9_HUMAN Q96J65 VAR_028396 989 T -> S Polymorphism
ABCC12 MRP9_HUMAN Q96J65 VAR_028397 1013 Y -> H Polymorphism
ABCC12 MRP9_HUMAN Q96J65 VAR_028398 1117 R -> C Polymorphism
ABCC12 MRP9_HUMAN Q96J65 VAR_048140 1187 I -> T Polymorphism
ABCC12 MRP9_HUMAN Q96J65 VAR_028399 1191 E -> A Polymorphism
ABCC12 MRP9_HUMAN Q96J65 VAR_028400 1349 F -> L Polymorphism
ABCC13 ABCCD_HUMAN Q9NSE7 VAR_020247 228 S -> N Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_047152 39 F -> Y Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_029113 246 M -> L Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_013324 281 S -> N Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_020226 333 D -> G Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_020227 353 R -> H Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_013325 417 V -> I Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_029115 495 K -> E Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_029116 562 F -> L Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_020228 670 I -> T Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_000099 768 R -> W Disease Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2 MRP2_HUMAN Q92887 VAR_013326 789 S -> F Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_020229 849 L -> R Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_029117 982 I -> V Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_020230 1036 I -> T Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_029118 1063 N -> S Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_013327 1150 R -> H Disease Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2 MRP2_HUMAN Q92887 VAR_013328 1173 I -> F Disease Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2 MRP2_HUMAN Q92887 VAR_020231 1181 R -> L Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_020232 1188 V -> E Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_024360 1273 T -> A Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_020233 1291 P -> L Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_010756 1382 Q -> R Disease Dubin-Johnson syndrome (DJS) [MIM:237500]
ABCC2 MRP2_HUMAN Q92887 VAR_013330 1450 A -> T Polymorphism
ABCC2 MRP2_HUMAN Q92887 VAR_020234 1515 C -> Y Polymorphism
ABCC3 MRP3_HUMAN O15438 VAR_029119 11 G -> D Polymorphism
ABCC3 MRP3_HUMAN O15438 VAR_020235 346 S -> F Polymorphism
ABCC3 MRP3_HUMAN O15438 VAR_029120 1286 R -> G Polymorphism
ABCC3 MRP3_HUMAN O15438 VAR_020237 1297 R -> H Polymorphism
ABCC3 MRP3_HUMAN O15438 VAR_020239 1365 Q -> R Polymorphism
ABCC3 MRP3_HUMAN O15438 VAR_020240 1381 R -> S Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_046445 18 L -> I Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_029121 78 P -> A Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_046446 171 C -> G Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_020241 184 M -> T Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_020242 187 G -> W Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_046447 293 K -> E Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_022072 304 K -> N Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_046448 356 T -> M Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_029122 403 P -> L Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_029123 487 G -> E Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_020243 498 K -> E Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_045684 556 Y -> C Unclassified
ABCC4 MRP4_HUMAN O15439 VAR_029124 625 I -> M Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_029125 667 P -> L Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_020244 744 M -> V Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_022073 757 E -> K Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_045685 776 V -> I Unclassified
ABCC4 MRP4_HUMAN O15439 VAR_045686 820 R -> I Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_045687 854 V -> F Unclassified
ABCC4 MRP4_HUMAN O15439 VAR_020245 860 V -> M Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_045688 866 I -> V Unclassified
ABCC4 MRP4_HUMAN O15439 VAR_020246 900 V -> L Polymorphism
ABCC4 MRP4_HUMAN O15439 VAR_029126 1142 T -> M Unclassified
ABCC6 MRP6_HUMAN O95255 VAR_013364 61 G -> D Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_013365 64 W -> R Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_013366 207 G -> R Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_013367 265 R -> G Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_013368 281 K -> E Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_013369 319 I -> V Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_013370 364 T -> R Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013371 411 N -> K Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013372 455 A -> P Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013373 497 N -> K Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_013374 518 R -> Q Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013375 568 F -> S Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_011490 614 V -> A Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_013376 632 H -> Q Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_055477 665 V -> A Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_013377 673 L -> P Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013378 765 R -> Q Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_059108 848 V -> M Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_013379 953 L -> H Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_011491 1114 R -> P Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013380 1121 S -> W Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013381 1138 R -> P Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_011492 1138 R -> Q Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_011493 1138 R -> W Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013382 1203 G -> D Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013383 1241 W -> C Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_011494 1268 R -> Q Polymorphism
ABCC6 MRP6_HUMAN O95255 VAR_013384 1298 V -> F Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013385 1301 T -> I Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013386 1302 G -> R Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013387 1303 A -> P Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013388 1314 R -> Q Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_011495 1314 R -> W Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013389 1321 G -> S Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013390 1339 R -> C Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013391 1347 Q -> H Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013392 1354 G -> R Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013393 1361 D -> N Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC6 MRP6_HUMAN O95255 VAR_013394 1424 I -> T Disease Pseudoxanthoma elasticum (PXE) [MIM:264800]
ABCC8 ABCC8_HUMAN Q09428 VAR_031349 7 G -> R Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031350 21 V -> D Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031351 27 F -> S Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031352 70 G -> E Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008639 74 R -> Q Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031353 74 R -> W Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031354 86 V -> A Disease Permanent neonatal diabetes mellitus (PNDM) [MIM:606176]
ABCC8 ABCC8_HUMAN Q09428 VAR_029777 104 L -> V Polymorphism
ABCC8 ABCC8_HUMAN Q09428 VAR_031355 111 G -> R Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031356 116 A -> P Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008640 125 H -> Q Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_029778 132 F -> L Disease Permanent neonatal diabetes mellitus (PNDM) [MIM:606176]
ABCC8 ABCC8_HUMAN Q09428 VAR_008641 187 V -> D Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008642 188 N -> S Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_029779 213 L -> R Disease Permanent neonatal diabetes mellitus (PNDM) [MIM:606176]
ABCC8 ABCC8_HUMAN Q09428 VAR_031357 233 M -> R Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008643 275 R -> Q Polymorphism
ABCC8 ABCC8_HUMAN Q09428 VAR_031358 310 D -> N Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008644 406 N -> D Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031359 418 C -> R Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_029780 435 C -> R Disease Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
ABCC8 ABCC8_HUMAN Q09428 VAR_031360 495 R -> Q Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031361 501 E -> K Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031362 503 L -> P Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031363 508 L -> P Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031364 551 P -> R Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008645 560 V -> M Polymorphism
ABCC8 ABCC8_HUMAN Q09428 VAR_029781 582 L -> V Disease Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
ABCC8 ABCC8_HUMAN Q09428 VAR_008646 591 F -> L Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031365 620 R -> C Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_015006 673 D -> N Polymorphism
ABCC8 ABCC8_HUMAN Q09428 VAR_031366 686 F -> S Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_000100 716 G -> V Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031367 719 K -> T Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008647 810 D -> N Polymorphism
ABCC8 ABCC8_HUMAN Q09428 VAR_008648 834 R -> C Polymorphism
ABCC8 ABCC8_HUMAN Q09428 VAR_031368 841 R -> G Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031369 889 K -> T Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031370 956 S -> F Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_029782 1023 H -> Y Disease Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
ABCC8 ABCC8_HUMAN Q09428 VAR_031371 1130 T -> P Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008649 1138 T -> M Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031372 1147 L -> R Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_029783 1182 R -> Q Disease Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
ABCC8 ABCC8_HUMAN Q09428 VAR_008650 1214 R -> Q Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031373 1214 R -> W Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031374 1295 N -> K Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031375 1336 K -> N Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031376 1342 G -> E Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031377 1349 L -> Q Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_029784 1352 R -> H Disease Leucine-induced hypoglycemia (LIH) [MIM:240800]
ABCC8 ABCC8_HUMAN Q09428 VAR_008537 1352 R -> P Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008651 1360 V -> G Polymorphism
ABCC8 ABCC8_HUMAN Q09428 VAR_015007 1360 V -> M Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008652 1369 S -> A Polymorphism
ABCC8 ABCC8_HUMAN Q09428 VAR_008653 1378 G -> R Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_029785 1379 R -> C Disease Transient neonatal diabetes mellitus type 2 (TNDM2) [MIM:610374]
ABCC8 ABCC8_HUMAN Q09428 VAR_008654 1381 G -> S Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031378 1384 K -> Q Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031379 1386 S -> F Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008655 1393 R -> H Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031380 1400 G -> R Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031381 1418 R -> H Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008539 1420 R -> C Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_029787 1424 I -> V Disease Permanent neonatal diabetes mellitus (PNDM) [MIM:606176]
ABCC8 ABCC8_HUMAN Q09428 VAR_015008 1436 R -> Q Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031382 1450 L -> P Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031383 1457 A -> T Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031384 1471 D -> H Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031385 1471 D -> N Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008656 1478 G -> R Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031386 1486 R -> K Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031387 1493 R -> Q Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008540 1493 R -> W Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_015009 1506 E -> K Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_015010 1543 L -> P Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031388 1550 V -> D Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_031389 1551 L -> V Disease Familial hyperinsulinemic hypoglycemia type 1 (HHF1) [MIM:256450]
ABCC8 ABCC8_HUMAN Q09428 VAR_008658 1572 V -> I Polymorphism
ABCC9 ABCC9_HUMAN O60706 VAR_048143 1108 P -> S Polymorphism
ABCC9 ABCC9_HUMAN O60706 VAR_018483 1513 A -> T Disease Cardiomyopathy dilated type 1O (CMD1O) [MIM:608569]
ABCD1 ABCD1_HUMAN P33897 VAR_013340 13 N -> T Polymorphism
ABCD1 ABCD1_HUMAN P33897 VAR_023004 88 C -> W Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009349 90 E -> K Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000024 98 S -> L Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013341 99 A -> D Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009350 103 S -> R Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000025 104 R -> C Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000026 104 R -> H Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000027 105 T -> I Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009351 105 T -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000028 107 L -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009352 108 S -> L Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000029 108 S -> W Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009353 113 R -> C Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013342 113 R -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000030 116 G -> R Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000033 141 A -> T Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009354 143 P -> S Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000034 148 N -> S Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000035 149 S -> N Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000036 152 R -> C Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009355 152 R -> L Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000037 152 R -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009356 152 R -> S Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009357 161 S -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000038 163 R -> H Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009358 163 R -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009359 174 Y -> C Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000039 174 Y -> D Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000040 174 Y -> S Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000041 178 Q -> E Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000042 181 Y -> C Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000043 182 R -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009360 189 R -> W Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009361 190 L -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000044 194 D -> H Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009362 198 T -> K Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009363 200 D -> N Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000045 200 D -> V Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000046 211 L -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009364 213 S -> C Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009365 214 N -> D Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013344 217 K -> E Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009366 218 P -> T Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000047 220 L -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000048 221 D -> G Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013345 224 V -> E Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009367 229 L -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000049 254 T -> M Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000050 254 T -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000051 263 P -> L Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000052 266 G -> R Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009368 271 E -> K Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013346 274 R -> W Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000053 276 K -> E Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000054 277 G -> R Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000056 277 G -> W Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013347 280 R -> C Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009369 285 R -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000057 291 E -> D Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000058 291 E -> K Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000060 294 A -> T Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009370 296 Y -> C Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009371 298 G -> D Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009372 302 E -> K Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009373 322 L -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009374 336 K -> M Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013349 339 W -> R Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000061 342 S -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013350 343 G -> D Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_023005 343 G -> S Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000062 389 R -> G Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000063 389 R -> H Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000064 401 R -> Q Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009375 401 R -> W Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000065 418 R -> W Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000066 484 P -> R Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_023006 503 L -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000067 507 G -> V Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000068 512 G -> S Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_023007 514 S -> R Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000069 515 S -> F Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000070 518 R -> Q Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000071 518 R -> W Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000072 522 G -> W Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009376 529 G -> S Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000074 534 P -> L Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009377 540 F -> S Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009378 543 P -> L Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009379 544 Q -> R Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009380 552 S -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009381 554 R -> H Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013352 556 Q -> R Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000075 560 P -> L Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000076 560 P -> R Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013353 560 P -> S Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000077 566 M -> K Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013354 591 R -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000078 591 R -> Q Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009382 591 R -> W Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000079 606 S -> L Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000080 606 S -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013355 608 G -> D Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000081 609 E -> G Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000082 609 E -> K Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009383 616 A -> V Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000083 617 R -> C Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000084 617 R -> G Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000085 617 R -> H Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013356 626 A -> D Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000086 626 A -> T Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000087 629 D -> H Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009384 630 E -> G Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009385 631 C -> Y Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013357 632 T -> I Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013358 633 S -> I Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009386 633 S -> R Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013359 635 V -> M Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009387 636 S -> I Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009388 638 D -> Y Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009389 646 A -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009390 654 L -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_013360 660 R -> P Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000089 660 R -> W Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009391 667 H -> D Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009392 668 T -> I Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_000090 679 W -> R Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD1 ABCD1_HUMAN P33897 VAR_009393 693 T -> M Disease Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
ABCD3 ABCD3_HUMAN P28288 VAR_000091 17 G -> D Disease Zellweger syndrome type 2 (ZWS2) [MIM:170995]
ABCD4 ABCD4_HUMAN O14678 VAR_048134 172 V -> I Polymorphism
ABCD4 ABCD4_HUMAN O14678 VAR_020778 304 A -> T Polymorphism
ABCD4 ABCD4_HUMAN O14678 VAR_048135 350 T -> R Polymorphism
ABCD4 ABCD4_HUMAN O14678 VAR_020222 368 E -> K Polymorphism
ABCF1 ABCF1_HUMAN Q8NE71 VAR_048136 198 N -> D Polymorphism
ABCF3 ABCF3_HUMAN Q9NUQ8 VAR_027247 503 P -> L Polymorphism
ABCF3 ABCF3_HUMAN Q9NUQ8 VAR_027248 510 R -> H Polymorphism
ABCG1 ABCG1_HUMAN P45844 VAR_012279 668 F -> L Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_020779 12 V -> M Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_020780 141 Q -> K Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_022704 166 Q -> E Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_022705 206 I -> L Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_022706 208 F -> S Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_022707 248 S -> P Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_030357 296 D -> H Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_022443 316 T -> P Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_018349 431 F -> L Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_018350 489 F -> L Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_030358 528 A -> T Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_022708 571 F -> I Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_035355 590 N -> Y Polymorphism
ABCG2 ABCG2_HUMAN Q9UNQ0 VAR_022709 620 D -> N Polymorphism
ABCG4 ABCG4_HUMAN Q9H172 VAR_048141 352 P -> L Polymorphism
ABCG5 ABCG5_HUMAN Q9H222 VAR_048142 50 R -> C Polymorphism
ABCG5 ABCG5_HUMAN Q9H222 VAR_012244 146 E -> Q Disease Sitosterolemia [MIM:210250]
ABCG5 ABCG5_HUMAN Q9H222 VAR_012245 389 R -> H Disease Sitosterolemia [MIM:210250]
ABCG5 ABCG5_HUMAN Q9H222 VAR_012246 419 R -> H Disease Sitosterolemia [MIM:210250]
ABCG5 ABCG5_HUMAN Q9H222 VAR_012247 419 R -> P Disease Sitosterolemia [MIM:210250]
ABCG5 ABCG5_HUMAN Q9H222 VAR_020781 437 N -> K Disease Sitosterolemia [MIM:210250]
ABCG5 ABCG5_HUMAN Q9H222 VAR_033457 517 T -> S Polymorphism
ABCG5 ABCG5_HUMAN Q9H222 VAR_020782 523 I -> V Polymorphism
ABCG5 ABCG5_HUMAN Q9H222 VAR_012248 550 R -> S Disease Sitosterolemia [MIM:210250]
ABCG5 ABCG5_HUMAN Q9H222 VAR_020783 600 C -> Y Polymorphism
ABCG5 ABCG5_HUMAN Q9H222 VAR_012249 604 Q -> E Polymorphism
ABCG5 ABCG5_HUMAN Q9H222 VAR_020784 622 M -> V Polymorphism
ABCG8 ABCG8_HUMAN Q9H221 VAR_012250 19 D -> H Polymorphism
ABCG8 ABCG8_HUMAN Q9H221 VAR_012251 54 Y -> C Polymorphism
ABCG8 ABCG8_HUMAN Q9H221 VAR_012252 184 R -> H Disease Sitosterolemia [MIM:210250]
ABCG8 ABCG8_HUMAN Q9H221 VAR_022074 210 V -> M Polymorphism
ABCG8 ABCG8_HUMAN Q9H221 VAR_012253 231 P -> T Disease Sitosterolemia [MIM:210250]
ABCG8 ABCG8_HUMAN Q9H221 VAR_012254 238 E -> K Polymorphism
ABCG8 ABCG8_HUMAN Q9H221 VAR_012255 259 A -> V Polymorphism
ABCG8 ABCG8_HUMAN Q9H221 VAR_012256 263 R -> Q Disease Sitosterolemia [MIM:210250]
ABCG8 ABCG8_HUMAN Q9H221 VAR_012257 400 T -> K Polymorphism
ABCG8 ABCG8_HUMAN Q9H221 VAR_012258 405 R -> H Disease Sitosterolemia [MIM:210250]
ABCG8 ABCG8_HUMAN Q9H221 VAR_012259 501 L -> P Disease Sitosterolemia [MIM:210250]
ABCG8 ABCG8_HUMAN Q9H221 VAR_012260 543 R -> S Disease Sitosterolemia [MIM:210250]
ABCG8 ABCG8_HUMAN Q9H221 VAR_012262 572 L -> P Disease Sitosterolemia [MIM:210250]
ABCG8 ABCG8_HUMAN Q9H221 VAR_012263 574 G -> E Disease Sitosterolemia [MIM:210250]
ABCG8 ABCG8_HUMAN Q9H221 VAR_012264 574 G -> R Disease Sitosterolemia [MIM:210250]
ABCG8 ABCG8_HUMAN Q9H221 VAR_012265 575 G -> R Polymorphism
ABCG8 ABCG8_HUMAN Q9H221 VAR_012266 596 L -> R Disease Sitosterolemia [MIM:210250]
ABCG8 ABCG8_HUMAN Q9H221 VAR_012267 632 V -> A Polymorphism
ABCG8 ABCG8_HUMAN Q9H221 VAR_020785 641 Y -> F Polymorphism
ABCG8 ABCG8_HUMAN Q9H221 VAR_022075 655 M -> V Polymorphism
ABHD1 ABHD1_HUMAN Q96SE0 VAR_052484 54 P -> Q Polymorphism
ABHD1 ABHD1_HUMAN Q96SE0 VAR_031087 137 E -> D Polymorphism
ABHD1 ABHD1_HUMAN Q96SE0 VAR_031088 371 W -> C Polymorphism
ABHD10 ABHDA_HUMAN Q9NUJ1 VAR_031194 251 I -> V Polymorphism
ABHD12 ABD12_HUMAN Q8N2K0 VAR_050630 349 A -> T Polymorphism
ABHD12B AB12B_HUMAN Q7Z5M8 VAR_035676 282 I -> V Disease A breast cancer sample
ABHD12B AB12B_HUMAN Q7Z5M8 VAR_019100 334 F -> L Polymorphism
ABHD14A ABHEA_HUMAN Q9BUJ0 VAR_031390 32 R -> Q Polymorphism
ABHD14A ABHEA_HUMAN Q9BUJ0 VAR_031391 61 C -> W Polymorphism
ABHD15 ABH15_HUMAN Q6UXT9 VAR_045821 334 A -> T Polymorphism
ABHD2 ABHD2_HUMAN P08910 VAR_031203 253 R -> Q Polymorphism
ABHD3 ABHD3_HUMAN Q8WU67 VAR_031089 3 R -> C Polymorphism
ABHD5 ABHD5_HUMAN Q8WTS1 VAR_023387 7 E -> K Disease Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5 ABHD5_HUMAN Q8WTS1 VAR_037574 72 I -> T Polymorphism
ABHD5 ABHD5_HUMAN Q8WTS1 VAR_057953 82 H -> R Unclassified
ABHD5 ABHD5_HUMAN Q8WTS1 VAR_057954 115 S -> G Disease Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5 ABHD5_HUMAN Q8WTS1 VAR_023388 130 Q -> P Disease Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABHD5 ABHD5_HUMAN Q8WTS1 VAR_023389 260 E -> K Disease Chanarin-Dorfman syndrome (CDS) [MIM:275630]
ABI1 ABI1_HUMAN Q8IZP0 VAR_048159 331 G -> A Polymorphism
ABI3 ABI3_HUMAN Q9P2A4 VAR_022030 44 R -> Q Polymorphism
ABI3 ABI3_HUMAN Q9P2A4 VAR_060243 203 S -> F Polymorphism
ABL1 ABL1_HUMAN P00519 VAR_032676 47 R -> G Disease A lung large cell carcinoma sample
ABL1 ABL1_HUMAN P00519 VAR_051692 140 L -> P Polymorphism
ABL1 ABL1_HUMAN P00519 VAR_032677 166 R -> K Disease A melanoma sample
ABL1 ABL1_HUMAN P00519 VAR_051693 247 K -> R Polymorphism
ABL1 ABL1_HUMAN P00519 VAR_025043 706 G -> V Polymorphism
ABL1 ABL1_HUMAN P00519 VAR_032678 810 P -> L Polymorphism
ABL1 ABL1_HUMAN P00519 VAR_025044 852 T -> P Polymorphism
ABL1 ABL1_HUMAN P00519 VAR_025045 900 P -> S Polymorphism
ABL1 ABL1_HUMAN P00519 VAR_051694 968 S -> P Polymorphism
ABL1 ABL1_HUMAN P00519 VAR_025046 972 S -> L Polymorphism
ABL2 ABL2_HUMAN P42684 VAR_055411 78 R -> H Polymorphism
ABL2 ABL2_HUMAN P42684 VAR_055412 99 E -> Q Unclassified
ABL2 ABL2_HUMAN P42684 VAR_055413 519 R -> I Unclassified
ABL2 ABL2_HUMAN P42684 VAR_055414 769 T -> S Polymorphism
ABL2 ABL2_HUMAN P42684 VAR_029232 930 K -> R Polymorphism
ABL2 ABL2_HUMAN P42684 VAR_029233 946 V -> M Polymorphism
ABL2 ABL2_HUMAN P42684 VAR_029234 996 P -> R Polymorphism
ABL2 ABL2_HUMAN P42684 VAR_029235 1085 S -> N Polymorphism
ABL2 ABL2_HUMAN P42684 VAR_029236 1101 T -> A Polymorphism
ABLIM1 ABLM1_HUMAN O14639 VAR_050141 434 P -> T Polymorphism
ABLIM1 ABLM1_HUMAN O14639 VAR_050142 637 R -> G Polymorphism
ABLIM3 ABLM3_HUMAN O94929 VAR_050143 125 G -> D Polymorphism
ABO BGAT_HUMAN P16442 VAR_019147 35 G -> R Polymorphism
ABO BGAT_HUMAN P16442 VAR_019148 36 V -> F Polymorphism
ABO BGAT_HUMAN P16442 VAR_019149 63 R -> H Polymorphism
ABO BGAT_HUMAN P16442 VAR_019150 74 P -> S Polymorphism
ABO BGAT_HUMAN P16442 VAR_003409 156 P -> L Polymorphism
ABO BGAT_HUMAN P16442 VAR_019151 161 R -> H Polymorphism
ABO BGAT_HUMAN P16442 VAR_036738 163 T -> M Polymorphism
ABO BGAT_HUMAN P16442 VAR_003410 176 R -> G Polymorphism
ABO BGAT_HUMAN P16442 VAR_036739 198 R -> W Polymorphism
ABO BGAT_HUMAN P16442 VAR_019152 199 R -> C Polymorphism
ABO BGAT_HUMAN P16442 VAR_036740 214 M -> R Polymorphism
ABO BGAT_HUMAN P16442 VAR_019153 216 F -> I Polymorphism
ABO BGAT_HUMAN P16442 VAR_036741 223 E -> D Polymorphism
ABO BGAT_HUMAN P16442 VAR_055227 230 G -> R Unclassified
ABO BGAT_HUMAN P16442 VAR_003411 235 G -> S Polymorphism
ABO BGAT_HUMAN P16442 VAR_033540 257 P -> L Polymorphism
ABO BGAT_HUMAN P16442 VAR_003412 266 L -> M Polymorphism
ABO BGAT_HUMAN P16442 VAR_003413 268 G -> A Polymorphism
ABO BGAT_HUMAN P16442 VAR_033541 268 G -> R Polymorphism
ABO BGAT_HUMAN P16442 VAR_019154 277 V -> M Polymorphism
ABO BGAT_HUMAN P16442 VAR_036742 288 M -> R Polymorphism
ABO BGAT_HUMAN P16442 VAR_036743 291 D -> N Polymorphism
ABO BGAT_HUMAN P16442 VAR_036744 346 K -> M Polymorphism
ABO BGAT_HUMAN P16442 VAR_036745 352 R -> G Polymorphism
ABO BGAT_HUMAN P16442 VAR_003414 352 R -> W Polymorphism
ABP1 ABP1_HUMAN P19801 VAR_025078 16 T -> M Polymorphism
ABP1 ABP1_HUMAN P19801 VAR_025079 332 S -> F Polymorphism
ABP1 ABP1_HUMAN P19801 VAR_025080 479 M -> I Polymorphism
ABP1 ABP1_HUMAN P19801 VAR_007542 645 H -> D Polymorphism
ABP1 ABP1_HUMAN P19801 VAR_025081 659 N -> H Polymorphism
ABR ABR_HUMAN Q12979 VAR_057186 517 K -> R Polymorphism
ABTB2 ABTB2_HUMAN Q8N961 VAR_022087 64 H -> Q Polymorphism
ABTB2 ABTB2_HUMAN Q8N961 VAR_024171 732 T -> A Polymorphism
ACAA1 THIK_HUMAN P09110 VAR_011904 172 E -> D Polymorphism
ACAA2 THIM_HUMAN P42765 VAR_052577 217 M -> V Polymorphism
ACACA ACACA_HUMAN Q13085 VAR_042941 838 R -> W Polymorphism
ACACA ACACA_HUMAN Q13085 VAR_036514 1687 R -> Q Disease A colorectal cancer sample
ACACA ACACA_HUMAN Q13085 VAR_028929 2271 A -> V Polymorphism
ACACB ACACB_HUMAN O00763 VAR_031255 552 I -> V Polymorphism
ACACB ACACB_HUMAN O00763 VAR_031256 651 A -> T Polymorphism
ACACB ACACB_HUMAN O00763 VAR_031257 2141 I -> V Polymorphism
ACAD10 ACD10_HUMAN Q6JQN1 VAR_031811 200 Q -> R Polymorphism
ACAD10 ACD10_HUMAN Q6JQN1 VAR_031812 216 T -> P Polymorphism
ACAD10 ACD10_HUMAN Q6JQN1 VAR_031813 463 D -> N Polymorphism
ACAD10 ACD10_HUMAN Q6JQN1 VAR_031814 880 A -> V Polymorphism
ACAD11 ACD11_HUMAN Q709F0 VAR_028825 157 R -> H Polymorphism
ACAD11 ACD11_HUMAN Q709F0 VAR_028826 362 V -> L Polymorphism
ACAD8 ACAD8_HUMAN Q9UKU7 VAR_035071 128 M -> I Disease Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 ACAD8_HUMAN Q9UKU7 VAR_035072 134 D -> Y Disease Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 ACAD8_HUMAN Q9UKU7 VAR_035073 137 G -> R Disease Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 ACAD8_HUMAN Q9UKU7 VAR_035074 152 M -> T Disease Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 ACAD8_HUMAN Q9UKU7 VAR_035075 203 V -> I Disease Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 ACAD8_HUMAN Q9UKU7 VAR_035076 302 R -> Q Disease Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 ACAD8_HUMAN Q9UKU7 VAR_035077 320 A -> T Disease Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 ACAD8_HUMAN Q9UKU7 VAR_035078 334 R -> C Disease Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD8 ACAD8_HUMAN Q9UKU7 VAR_035079 385 Q -> R Disease Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]
ACAD9 ACAD9_HUMAN Q9H845 VAR_033459 477 R -> Q Polymorphism
ACADL ACADL_HUMAN P28330 VAR_000328 303 S -> T Polymorphism
ACADL ACADL_HUMAN P28330 VAR_000329 333 K -> Q Polymorphism
ACADM ACADM_HUMAN P11310 VAR_000317 53 R -> C Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_013698 67 Y -> H Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_015954 78 I -> T Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_015955 116 C -> Y Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_015956 121 T -> I Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_035716 132 P -> R Disease A breast cancer sample
ACADM ACADM_HUMAN P11310 VAR_000319 149 M -> I Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_000320 193 T -> A Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_000321 195 G -> R Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_015957 206 R -> L Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_000322 244 C -> R Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_013699 245 S -> L Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_000323 267 G -> R Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_013700 281 R -> T Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_015958 310 G -> R Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_000324 326 M -> T Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_000325 329 K -> E Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_000326 336 S -> R Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_015959 352 Y -> C Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADM ACADM_HUMAN P11310 VAR_000327 375 I -> T Disease Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
ACADS ACADS_HUMAN P16219 VAR_000310 46 R -> W Disease Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]
ACADS ACADS_HUMAN P16219 VAR_013565 90 G -> S Disease Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]
ACADS ACADS_HUMAN P16219 VAR_000311 92 G -> C Disease Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]
ACADS ACADS_HUMAN P16219 VAR_000312 107 R -> C Disease Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]
ACADS ACADS_HUMAN P16219 VAR_013567 171 R -> W Polymorphism
ACADS ACADS_HUMAN P16219 VAR_000314 177 W -> R Disease Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]
ACADS ACADS_HUMAN P16219 VAR_013568 192 A -> V Disease Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]
ACADS ACADS_HUMAN P16219 VAR_000315 209 G -> S Polymorphism
ACADS ACADS_HUMAN P16219 VAR_013569 325 R -> W Disease Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]
ACADS ACADS_HUMAN P16219 VAR_013570 353 S -> L Disease Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]
ACADS ACADS_HUMAN P16219 VAR_013571 380 R -> W Disease Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]
ACADS ACADS_HUMAN P16219 VAR_000316 383 R -> C Disease Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]
ACADS ACADS_HUMAN P16219 VAR_033458 383 R -> H Polymorphism
ACADSB ACDSB_HUMAN P45954 VAR_048177 13 R -> K Polymorphism
ACADSB ACDSB_HUMAN P45954 VAR_014749 209 S -> G Polymorphism
ACADSB ACDSB_HUMAN P45954 VAR_013010 255 L -> F Disease Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]
ACADSB ACDSB_HUMAN P45954 VAR_048178 316 I -> V Polymorphism
ACADSB ACDSB_HUMAN P45954 VAR_048179 376 E -> G Polymorphism
ACADVL ACADV_HUMAN P49748 VAR_029286 17 L -> F Polymorphism
ACADVL ACADV_HUMAN P49748 VAR_000330 43 G -> D Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_048176 65 P -> L Polymorphism
ACADVL ACADV_HUMAN P49748 VAR_000332 158 T -> N Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000333 159 Q -> R Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000334 174 V -> M Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000335 185 G -> S Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_010101 213 A -> P Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000336 218 E -> K Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000337 243 L -> R Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_010102 247 K -> E Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000338 247 K -> T Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000339 260 T -> M Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000341 281 A -> D Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000342 283 V -> A Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000343 290 G -> D Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000344 294 G -> E Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000345 299 K -> N Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000347 317 V -> A Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000348 352 M -> V Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_011990 359 A -> S Polymorphism
ACADVL ACADV_HUMAN P49748 VAR_000349 366 R -> C Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000350 366 R -> H Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000352 382 K -> Q Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000353 405 D -> H Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000354 441 G -> D Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000355 450 R -> H Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000356 453 R -> Q Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000357 454 D -> N Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000358 456 R -> H Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_010103 458 F -> L Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000359 459 R -> W Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000360 463 G -> E Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000361 469 R -> Q Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000362 469 R -> W Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_010104 490 A -> P Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000363 502 L -> P Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_010105 534 E -> K Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000364 602 L -> I Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_000365 613 R -> W Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_010106 615 R -> Q Disease Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
ACADVL ACADV_HUMAN P49748 VAR_011991 623 S -> F Polymorphism
ACAM ACAM_HUMAN Q9H6B4 VAR_049824 69 R -> H Polymorphism
ACAN PGCA_HUMAN P16112 VAR_056152 102 D -> E Polymorphism
ACAN PGCA_HUMAN P16112 VAR_056153 275 R -> Q Polymorphism
ACAN PGCA_HUMAN P16112 VAR_056154 1943 P -> L Polymorphism
ACAN PGCA_HUMAN P16112 VAR_056155 2005 S -> R Polymorphism
ACAP1 ACAP1_HUMAN Q15027 VAR_048328 68 R -> C Polymorphism
ACAP1 ACAP1_HUMAN Q15027 VAR_036178 114 K -> R Disease A breast cancer sample
ACAP1 ACAP1_HUMAN Q15027 VAR_036179 129 R -> Q Disease A colorectal cancer sample
ACAP1 ACAP1_HUMAN Q15027 VAR_048329 533 R -> W Polymorphism
ACAT1 THIL_HUMAN P24752 VAR_007496 5 A -> P Polymorphism
ACAT1 THIL_HUMAN P24752 VAR_007498 93 N -> S Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 THIL_HUMAN P24752 VAR_007499 152 G -> A Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 THIL_HUMAN P24752 VAR_007500 158 N -> D Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 THIL_HUMAN P24752 VAR_007501 183 G -> R Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 THIL_HUMAN P24752 VAR_007502 297 T -> M Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 THIL_HUMAN P24752 VAR_007503 301 A -> P Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 THIL_HUMAN P24752 VAR_007504 312 I -> T Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 THIL_HUMAN P24752 VAR_007505 333 A -> P Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 THIL_HUMAN P24752 VAR_007506 379 G -> V Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT1 THIL_HUMAN P24752 VAR_007507 380 A -> T Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
ACAT2 THIC_HUMAN Q9BWD1 VAR_019686 211 K -> R Polymorphism
ACBD3 GCP60_HUMAN Q9H3P7 VAR_019615 187 E -> D Polymorphism
ACBD4 ACBD4_HUMAN Q8NC06 VAR_055478 118 P -> L Polymorphism
ACBD4 ACBD4_HUMAN Q8NC06 VAR_059109 242 R -> G Polymorphism
ACBD5 ACBD5_HUMAN Q5T8D3 VAR_032301 472 T -> M Polymorphism
ACCN1 ACCN1_HUMAN Q16515 VAR_052036 354 D -> G Polymorphism
ACCN3 ACCN3_HUMAN Q9UHC3 VAR_052037 228 N -> S Polymorphism
ACCN4 ACCN4_HUMAN Q96FT7 VAR_052038 614 P -> Q Polymorphism
ACCN4 ACCN4_HUMAN Q96FT7 VAR_052039 616 L -> R Polymorphism
ACCN4 ACCN4_HUMAN Q96FT7 VAR_059806 619 A -> V Polymorphism
ACCS 1A1L1_HUMAN Q96QU6 VAR_048227 59 D -> N Polymorphism
ACCS 1A1L1_HUMAN Q96QU6 VAR_048228 134 D -> E Polymorphism
ACCS 1A1L1_HUMAN Q96QU6 VAR_038685 221 G -> E Disease A breast cancer sample
ACCS 1A1L1_HUMAN Q96QU6 VAR_038686 393 S -> L Disease A breast cancer sample
ACCS 1A1L1_HUMAN Q96QU6 VAR_038687 421 P -> L Polymorphism
ACD ACD_HUMAN Q96AP0 VAR_060224 301 T -> M Polymorphism
ACD ACD_HUMAN Q96AP0 VAR_060225 518 A -> V Polymorphism
ACE ACE_HUMAN P12821 VAR_029139 154 A -> T Polymorphism
ACE ACE_HUMAN P12821 VAR_029140 183 A -> T Polymorphism
ACE ACE_HUMAN P12821 VAR_023430 244 Y -> C Polymorphism
ACE ACE_HUMAN P12821 VAR_054000 260 R -> C Polymorphism
ACE ACE_HUMAN P12821 VAR_054001 260 R -> L Polymorphism
ACE ACE_HUMAN P12821 VAR_011707 261 A -> S Polymorphism
ACE ACE_HUMAN P12821 VAR_023431 351 P -> L Polymorphism
ACE ACE_HUMAN P12821 VAR_035434 354 G -> R Polymorphism
ACE ACE_HUMAN P12821 VAR_029141 379 R -> Q Polymorphism
ACE ACE_HUMAN P12821 VAR_029142 524 V -> A Polymorphism
ACE ACE_HUMAN P12821 VAR_011708 561 R -> W Polymorphism
ACE ACE_HUMAN P12821 VAR_020053 592 D -> G Polymorphism
ACE ACE_HUMAN P12821 VAR_034602 828 M -> T Polymorphism
ACE ACE_HUMAN P12821 VAR_023432 916 T -> M Polymorphism
ACE ACE_HUMAN P12821 VAR_014189 1018 I -> T Polymorphism
ACE ACE_HUMAN P12821 VAR_014190 1051 F -> V Polymorphism
ACE ACE_HUMAN P12821 VAR_023433 1187 T -> M Polymorphism
ACE ACE_HUMAN P12821 VAR_023434 1228 P -> L Unclassified
ACE ACE_HUMAN P12821 VAR_014191 1279 R -> Q Polymorphism
ACE ACE_HUMAN P12821 VAR_011709 1286 R -> S Polymorphism
ACE ACE_HUMAN P12821 VAR_014192 1296 Q -> P Polymorphism
ACE2 ACE2_HUMAN Q9BYF1 VAR_023082 26 K -> R Polymorphism
ACE2 ACE2_HUMAN Q9BYF1 VAR_023083 638 N -> S Polymorphism
ACER2 ACER2_HUMAN Q5QJU3 VAR_027150 134 A -> V Polymorphism
ACHE ACES_HUMAN P22303 VAR_021325 34 R -> Q Polymorphism
ACHE ACES_HUMAN P22303 VAR_021326 135 P -> A Polymorphism
ACHE ACES_HUMAN P22303 VAR_011934 333 V -> E Polymorphism
ACHE ACES_HUMAN P22303 VAR_002359 353 H -> N Polymorphism
ACIN1 ACINU_HUMAN Q9UKV3 VAR_050632 257 R -> K Polymorphism
ACIN1 ACINU_HUMAN Q9UKV3 VAR_022031 311 I -> M Polymorphism
ACIN1 ACINU_HUMAN Q9UKV3 VAR_022032 467 S -> P Polymorphism
ACIN1 ACINU_HUMAN Q9UKV3 VAR_022033 478 S -> F Polymorphism
ACIN1 ACINU_HUMAN Q9UKV3 VAR_035777 1160 R -> Q Disease A colorectal cancer sample
ACLY ACLY_HUMAN P53396 VAR_028230 175 E -> D Polymorphism
ACO1 ACOC_HUMAN P21399 VAR_048180 395 A -> D Polymorphism
ACO1 ACOC_HUMAN P21399 VAR_048181 486 G -> R Polymorphism
ACO2 ACON_HUMAN Q99798 VAR_036572 697 T -> N Disease A breast cancer sample
ACO2 ACON_HUMAN Q99798 VAR_033297 768 A -> S Polymorphism
ACOT1 ACOT1_HUMAN Q86TX2 VAR_059830 266 R -> H Polymorphism
ACOT11 ACO11_HUMAN Q8WXI4 VAR_048190 11 R -> W Polymorphism
ACOT11 ACO11_HUMAN Q8WXI4 VAR_022119 165 P -> L Polymorphism
ACOT11 ACO11_HUMAN Q8WXI4 VAR_022120 202 G -> D Polymorphism
ACOT11 ACO11_HUMAN Q8WXI4 VAR_022121 212 M -> I Polymorphism
ACOT11 ACO11_HUMAN Q8WXI4 VAR_048191 536 R -> H Polymorphism
ACOT12 ACO12_HUMAN Q8WYK0 VAR_048192 230 V -> I Polymorphism
ACOT12 ACO12_HUMAN Q8WYK0 VAR_048193 403 A -> T Polymorphism
ACOT2 ACOT2_HUMAN P49753 VAR_057271 16 R -> S Polymorphism
ACOT2 ACOT2_HUMAN P49753 VAR_016136 475 H -> R Polymorphism
ACOT4 ACOT4_HUMAN Q8N9L9 VAR_052300 57 R -> C Polymorphism
ACOT4 ACOT4_HUMAN Q8N9L9 VAR_052301 187 A -> D Polymorphism
ACOT6 ACOT6_HUMAN Q3I5F7 VAR_052302 166 E -> K Polymorphism
ACOX1 ACOX1_HUMAN Q15067 VAR_048182 101 G -> S Polymorphism
ACOX1 ACOX1_HUMAN Q15067 VAR_030619 153 T -> I Polymorphism
ACOX1 ACOX1_HUMAN Q15067 VAR_025789 178 G -> C Disease Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1 ACOX1_HUMAN Q15067 VAR_025790 278 M -> V Disease Adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]
ACOX1 ACOX1_HUMAN Q15067 VAR_021529 312 I -> M Polymorphism
ACOX3 ACOX3_HUMAN O15254 VAR_030802 34 E -> A Polymorphism
ACOX3 ACOX3_HUMAN O15254 VAR_030803 497 D -> N Polymorphism
ACOXL ACOXL_HUMAN Q9NUZ1 VAR_035164 255 T -> M Polymorphism
ACOXL ACOXL_HUMAN Q9NUZ1 VAR_035165 535 P -> L Polymorphism
ACP1 PPAC_HUMAN P24666 VAR_050526 7 K -> N Polymorphism
ACP1 PPAC_HUMAN P24666 VAR_006171 106 Q -> R Polymorphism
ACP1 PPAC_HUMAN P24666 VAR_050527 137 S -> F Polymorphism
ACP2 PPAL_HUMAN P11117 VAR_027801 29 R -> Q Polymorphism
ACP2 PPAL_HUMAN P11117 VAR_034394 320 S -> F Polymorphism
ACP2 PPAL_HUMAN P11117 VAR_050519 402 V -> I Polymorphism
ACP5 PPA5_HUMAN P13686 VAR_020602 148 V -> M Polymorphism
ACP5 PPA5_HUMAN P13686 VAR_020603 200 V -> M Polymorphism
ACP5 PPA5_HUMAN P13686 VAR_029288 221 V -> I Polymorphism
ACP6 PPA6_HUMAN Q9NPH0 VAR_022678 316 M -> V Polymorphism
ACPP PPAP_HUMAN P15309 VAR_047960 15 S -> N Polymorphism
ACPP PPAP_HUMAN P15309 VAR_047961 124 F -> V Polymorphism
ACPP PPAP_HUMAN P15309 VAR_047962 226 W -> R Polymorphism
ACPP PPAP_HUMAN P15309 VAR_047963 330 Y -> H Polymorphism
ACPP PPAP_HUMAN P15309 VAR_047964 360 V -> A Polymorphism
ACR ACRO_HUMAN P10323 VAR_011650 120 L -> V Polymorphism
ACR ACRO_HUMAN P10323 VAR_011651 166 F -> L Polymorphism
ACRBP ACRBP_HUMAN Q8NEB7 VAR_050633 336 T -> A Polymorphism
ACRC ACRC_HUMAN Q96QF7 VAR_050634 471 R -> H Polymorphism
ACRC ACRC_HUMAN Q96QF7 VAR_038520 662 T -> I Polymorphism
ACRV1 ASPX_HUMAN P26436 VAR_050680 126 G -> R Polymorphism
ACSBG1 ACBG1_HUMAN Q96GR2 VAR_038314 194 E -> V Polymorphism
ACSBG1 ACBG1_HUMAN Q96GR2 VAR_038315 633 V -> M Polymorphism
ACSBG1 ACBG1_HUMAN Q96GR2 VAR_038316 673 A -> V Polymorphism
ACSBG2 ACBG2_HUMAN Q5FVE4 VAR_038317 143 A -> V Polymorphism
ACSBG2 ACBG2_HUMAN Q5FVE4 VAR_038318 152 K -> R Polymorphism
ACSBG2 ACBG2_HUMAN Q5FVE4 VAR_038319 584 G -> D Polymorphism
ACSBG2 ACBG2_HUMAN Q5FVE4 VAR_038320 586 G -> D Polymorphism
ACSBG2 ACBG2_HUMAN Q5FVE4 VAR_038321 601 P -> R Polymorphism
ACSBG2 ACBG2_HUMAN Q5FVE4 VAR_038322 624 R -> K Polymorphism
ACSBG2 ACBG2_HUMAN Q5FVE4 VAR_038323 626 E -> Q Polymorphism
ACSBG2 ACBG2_HUMAN Q5FVE4 VAR_038324 650 R -> S Polymorphism
ACSF2 ACSF2_HUMAN Q96CM8 VAR_038304 75 G -> V Polymorphism
ACSF2 ACSF2_HUMAN Q96CM8 VAR_038305 316 V -> M Polymorphism
ACSF3 ACSF3_HUMAN Q4G176 VAR_038306 2 P -> L Polymorphism
ACSF3 ACSF3_HUMAN Q4G176 VAR_038307 17 A -> P Polymorphism
ACSF3 ACSF3_HUMAN Q4G176 VAR_038308 372 V -> M Polymorphism
ACSL3 ACSL3_HUMAN O95573 VAR_026716 551 F -> S Polymorphism
ACSL4 ACSL4_HUMAN O60488 VAR_036376 133 R -> C Disease A colorectal cancer sample
ACSL4 ACSL4_HUMAN O60488 VAR_013180 570 R -> S Disease Mental retardation X-linked type 63 (MRX63) [MIM:300387]
ACSL5 ACSL5_HUMAN Q9ULC5 VAR_022117 182 M -> V Polymorphism
ACSL5 ACSL5_HUMAN Q9ULC5 VAR_036377 388 K -> R Disease A colorectal cancer sample
ACSL5 ACSL5_HUMAN Q9ULC5 VAR_036378 466 G -> D Disease A colorectal cancer sample
ACSL5 ACSL5_HUMAN Q9ULC5 VAR_048240 486 T -> A Polymorphism
ACSM1 ACSM1_HUMAN Q08AH1 VAR_048238 272 I -> M Polymorphism
ACSM1 ACSM1_HUMAN Q08AH1 VAR_035245 479 I -> V Polymorphism
ACSM1 ACSM1_HUMAN Q08AH1 VAR_035246 515 I -> T Polymorphism
ACSM2A ACS2A_HUMAN Q08AH3 VAR_058692 335 V -> L Polymorphism
ACSM2A ACS2A_HUMAN Q08AH3 VAR_058693 336 T -> A Polymorphism
ACSM2A ACS2A_HUMAN Q08AH3 VAR_058694 337 V -> G Polymorphism
ACSM2A ACS2A_HUMAN Q08AH3 VAR_035247 513 S -> L Polymorphism
ACSM2A ACS2A_HUMAN Q08AH3 VAR_035248 561 A -> T Polymorphism
ACSM3 ACSM3_HUMAN Q53FZ2 VAR_035249 100 L -> P Polymorphism
ACSM3 ACSM3_HUMAN Q53FZ2 VAR_048239 270 D -> H Polymorphism
ACSM3 ACSM3_HUMAN Q53FZ2 VAR_035250 308 P -> T Polymorphism
ACSM3 ACSM3_HUMAN Q53FZ2 VAR_035251 367 K -> N Polymorphism
ACSM5 ACSM5_HUMAN Q6NUN0 VAR_055495 65 R -> Q Polymorphism
ACSM5 ACSM5_HUMAN Q6NUN0 VAR_035252 159 Q -> H Polymorphism
ACSM5 ACSM5_HUMAN Q6NUN0 VAR_055496 182 E -> K Polymorphism
ACSM5 ACSM5_HUMAN Q6NUN0 VAR_035253 352 P -> R Polymorphism
ACSM5 ACSM5_HUMAN Q6NUN0 VAR_035254 360 H -> R Polymorphism
ACSM5 ACSM5_HUMAN Q6NUN0 VAR_035255 533 T -> M Polymorphism
ACSM6 ACSM6_HUMAN Q6P461 VAR_043606 227 K -> R Polymorphism
ACSS1 ACS2L_HUMAN Q9NUB1 VAR_048184 488 V -> M Polymorphism
ACTA1 ACTS_HUMAN P68133 VAR_011680 17 G -> R Disease Congenital myopathy with excess of thin myofilaments (CM) [MIM:102610]
ACTA1 ACTS_HUMAN P68133 VAR_015579 42 H -> Y Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_011681 96 L -> P Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_011682 117 N -> S Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_013470 134 M -> V Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_011683 138 I -> M Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_011684 165 V -> L Disease Congenital myopathy with excess of thin myofilaments (CM) [MIM:102610]
ACTA1 ACTS_HUMAN P68133 VAR_015580 184 G -> D Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_015582 185 R -> C Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_015581 185 R -> G Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_032917 223 L -> P Disease Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1 ACTS_HUMAN P68133 VAR_015583 258 R -> H Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_011685 261 E -> V Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_015584 265 Q -> L Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_011686 270 G -> C Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_013471 271 M -> R Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_015585 282 N -> K Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_015586 288 D -> G Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_032918 294 D -> V Disease Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1 ACTS_HUMAN P68133 VAR_032919 334 P -> S Disease Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]
ACTA1 ACTS_HUMAN P68133 VAR_015587 359 I -> L Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA1 ACTS_HUMAN P68133 VAR_011687 372 V -> F Disease Nemaline myopathy type 3 (NEM3) [MIM:161800]
ACTA2 ACTA_HUMAN P62736 VAR_045915 117 N -> T Disease Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]
ACTA2 ACTA_HUMAN P62736 VAR_045916 118 R -> Q Disease Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]
ACTA2 ACTA_HUMAN P62736 VAR_045917 135 Y -> H Disease Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]
ACTA2 ACTA_HUMAN P62736 VAR_045918 149 R -> C Disease Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]
ACTA2 ACTA_HUMAN P62736 VAR_045919 154 V -> A Disease Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]
ACTA2 ACTA_HUMAN P62736 VAR_011944 196 T -> S Polymorphism
ACTA2 ACTA_HUMAN P62736 VAR_045920 258 R -> C Disease Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]
ACTA2 ACTA_HUMAN P62736 VAR_045921 258 R -> H Disease Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]
ACTA2 ACTA_HUMAN P62736 VAR_045922 292 R -> G Disease Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]
ACTA2 ACTA_HUMAN P62736 VAR_011945 320 T -> A Polymorphism
ACTA2 ACTA_HUMAN P62736 VAR_045923 353 T -> N Disease Aortic aneurysm familial thoracic type 6 (AAT6) [MIM:611788]
ACTA2 ACTA_HUMAN P62736 VAR_011946 373 H -> P Polymorphism
ACTB ACTB_HUMAN P60709 VAR_030026 183 R -> W Disease Dystonia juvenile-onset (DYTJ) [MIM:607371]
ACTB ACTB_HUMAN P60709 VAR_048185 243 P -> L Polymorphism
ACTC1 ACTC_HUMAN P68032 VAR_045924 90 H -> Y Disease Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]
ACTC1 ACTC_HUMAN P68032 VAR_045925 97 R -> C Disease Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]
ACTC1 ACTC_HUMAN P68032 VAR_012857 101 E -> K Disease Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]
ACTC1 ACTC_HUMAN P68032 VAR_046502 125 M -> V Unclassified
ACTC1 ACTC_HUMAN P68032 VAR_012858 166 P -> A Disease Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]
ACTC1 ACTC_HUMAN P68032 VAR_046503 168 Y -> C Disease Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]
ACTC1 ACTC_HUMAN P68032 VAR_012859 297 A -> S Disease Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]
ACTC1 ACTC_HUMAN P68032 VAR_046504 307 M -> L Disease Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]
ACTC1 ACTC_HUMAN P68032 VAR_012860 314 R -> H Disease Cardiomyopathy dilated type 1R (CMD1R) [MIM:102540]
ACTC1 ACTC_HUMAN P68032 VAR_012861 333 A -> P Disease Cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]
ACTC1 ACTC_HUMAN P68032 VAR_012862 363 E -> G Disease Cardiomyopathy dilated type 1R (CMD1R) [MIM:102540]
ACTG1 ACTG_HUMAN P63261 VAR_032434 89 T -> I Disease Non-syndromic sensorineural deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
ACTG1 ACTG_HUMAN P63261 VAR_032435 118 K -> M Disease Non-syndromic sensorineural deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
ACTG1 ACTG_HUMAN P63261 VAR_048186 160 T -> I Polymorphism
ACTG1 ACTG_HUMAN P63261 VAR_055482 243 P -> L Polymorphism
ACTG1 ACTG_HUMAN P63261 VAR_032436 264 P -> L Disease Non-syndromic sensorineural deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
ACTG1 ACTG_HUMAN P63261 VAR_032437 278 T -> I Disease Non-syndromic sensorineural deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
ACTG1 ACTG_HUMAN P63261 VAR_032438 332 P -> A Disease Non-syndromic sensorineural deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
ACTG1 ACTG_HUMAN P63261 VAR_032439 370 V -> A Disease Non-syndromic sensorineural deafness autosomal dominant type 20 (DFNA20) [MIM:604717]
ACTL7A ACL7A_HUMAN Q9Y615 VAR_031425 45 R -> C Polymorphism
ACTL7A ACL7A_HUMAN Q9Y615 VAR_033460 161 A -> P Polymorphism
ACTL7A ACL7A_HUMAN Q9Y615 VAR_024362 340 V -> M Polymorphism
ACTL8 ACTL8_HUMAN Q9H568 VAR_032079 3 A -> S Polymorphism
ACTL8 ACTL8_HUMAN Q9H568 VAR_032080 245 R -> C Polymorphism
ACTL9 ACTL9_HUMAN Q8TC94 VAR_043000 37 S -> F Polymorphism
ACTL9 ACTL9_HUMAN Q8TC94 VAR_043001 42 A -> D Disease A colorectal cancer sample
ACTL9 ACTL9_HUMAN Q8TC94 VAR_043002 51 V -> A Polymorphism
ACTL9 ACTL9_HUMAN Q8TC94 VAR_043003 227 H -> N Polymorphism
ACTL9 ACTL9_HUMAN Q8TC94 VAR_043004 332 A -> T Disease A colorectal cancer sample
ACTN1 ACTN1_HUMAN P12814 VAR_053883 707 N -> T Polymorphism
ACTN1 ACTN1_HUMAN P12814 VAR_053884 868 T -> S Polymorphism
ACTN2 ACTN2_HUMAN P35609 VAR_054628 9 Q -> R Disease Cardiomyopathy dilated type 1AA (CMD1AA) [MIM:612158]
ACTN2 ACTN2_HUMAN P35609 VAR_033487 604 M -> V Polymorphism
ACTN3 ACTN3_HUMAN Q08043 VAR_012705 523 R -> Q Polymorphism
ACTN3 ACTN3_HUMAN Q08043 VAR_047528 628 C -> R Polymorphism
ACTN3 ACTN3_HUMAN Q08043 VAR_033488 635 E -> A Polymorphism
ACTN3 ACTN3_HUMAN Q08043 VAR_047529 776 Q -> R Polymorphism
ACTN4 ACTN4_HUMAN O43707 VAR_010378 255 K -> E Disease Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4 ACTN4_HUMAN O43707 VAR_010379 259 T -> I Disease Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTN4 ACTN4_HUMAN O43707 VAR_010380 262 S -> P Disease Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278]
ACTR1B ACTY_HUMAN P42025 VAR_025315 93 V -> A Polymorphism
ACTR1B ACTY_HUMAN P42025 VAR_048187 143 A -> V Polymorphism
ACTR3B ARP3B_HUMAN Q9P1U1 VAR_048188 250 R -> Q Polymorphism
ACTR5 ARP5_HUMAN Q9H9F9 VAR_027158 298 R -> L Polymorphism
ACTR5 ARP5_HUMAN Q9H9F9 VAR_048189 461 I -> L Polymorphism
ACTR5 ARP5_HUMAN Q9H9F9 VAR_027159 483 I -> V Polymorphism
ACTR5 ARP5_HUMAN Q9H9F9 VAR_027160 580 P -> L Polymorphism
ACTR8 ARP8_HUMAN Q9H981 VAR_028033 56 T -> I Polymorphism
ACTRT2 ACTT2_HUMAN Q8TDY3 VAR_020416 247 G -> R Polymorphism
ACVR1 ACVR1_HUMAN Q04771 VAR_041392 15 A -> G Polymorphism
ACVR1 ACVR1_HUMAN Q04771 VAR_041393 41 S -> F Polymorphism
ACVR1 ACVR1_HUMAN Q04771 VAR_041394 47 H -> Q Polymorphism
ACVR1 ACVR1_HUMAN Q04771 VAR_041395 115 P -> S Disease A melanoma sample
ACVR1 ACVR1_HUMAN Q04771 VAR_058419 202 R -> I Disease Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 ACVR1_HUMAN Q04771 VAR_028444 206 R -> H Disease Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 ACVR1_HUMAN Q04771 VAR_058420 207 Q -> E Disease Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 ACVR1_HUMAN Q04771 VAR_058421 328 G -> E Disease Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 ACVR1_HUMAN Q04771 VAR_058422 328 G -> R Disease Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 ACVR1_HUMAN Q04771 VAR_058423 328 G -> W Disease Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 ACVR1_HUMAN Q04771 VAR_058424 356 G -> D Disease Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1 ACVR1_HUMAN Q04771 VAR_058425 375 R -> P Disease Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]
ACVR1B ACV1B_HUMAN P36896 VAR_041406 146 F -> L Polymorphism
ACVR1B ACV1B_HUMAN P36896 VAR_011716 408 L -> V Polymorphism
ACVR1C ACV1C_HUMAN Q8NER5 VAR_041407 195 I -> T Polymorphism
ACVR1C ACV1C_HUMAN Q8NER5 VAR_041408 216 G -> R Polymorphism
ACVR1C ACV1C_HUMAN Q8NER5 VAR_041409 267 W -> R Disease A lung squamous cell carcinoma sample
ACVR1C ACV1C_HUMAN Q8NER5 VAR_041410 355 I -> V Polymorphism
ACVR1C ACV1C_HUMAN Q8NER5 VAR_041411 482 I -> V Polymorphism
ACVR2A AVR2A_HUMAN P27037 VAR_032809 258 S -> R Polymorphism
ACVR2A AVR2A_HUMAN P27037 VAR_032810 306 D -> N Disease A gastric adenocarcinoma sample
ACVR2B AVR2B_HUMAN Q13705 VAR_013281 40 R -> H Disease Left-right axis malformations [MIM:602730]
ACVR2B AVR2B_HUMAN Q13705 VAR_041396 176 P -> R Polymorphism
ACVR2B AVR2B_HUMAN Q13705 VAR_050594 459 E -> D Polymorphism
ACVR2B AVR2B_HUMAN Q13705 VAR_013282 494 V -> I Disease Left-right axis malformations [MIM:602730]
ACVRL1 ACVL1_HUMAN P37023 VAR_026785 48 G -> R Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_006204 50 W -> C Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_006205 51 C -> Y Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_006206 67 R -> Q Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026786 67 R -> W Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_006207 77 C -> W Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_006208 96 N -> D Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026787 179 D -> A Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026788 211 G -> D Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026789 215 E -> K Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026790 223 G -> R Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026791 229 K -> R Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_011717 245 I -> N Polymorphism
ACVRL1 ACVL1_HUMAN P37023 VAR_026794 285 L -> F Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026795 306 A -> P Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026796 314 H -> Y Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_006210 333 S -> I Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026797 337 L -> P Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026798 344 C -> Y Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026799 347 A -> P Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026800 374 R -> Q Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_006211 374 R -> W Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_006212 376 M -> R Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026801 376 M -> V Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026802 378 P -> L Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026803 379 E -> K Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026804 397 D -> G Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026805 398 I -> N Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026806 399 W -> S Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026807 407 E -> D Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026808 411 R -> P Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_006213 411 R -> Q Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026809 411 R -> W Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_006214 424 P -> T Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026810 425 F -> L Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026811 425 F -> V Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026813 479 R -> L Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026814 482 A -> V Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026815 484 R -> W Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACVRL1 ACVL1_HUMAN P37023 VAR_026816 487 K -> T Disease Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
ACY1 ACY1_HUMAN Q03154 VAR_051805 179 N -> S Polymorphism
ACY1 ACY1_HUMAN Q03154 VAR_043113 197 R -> W Disease Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1 ACY1_HUMAN Q03154 VAR_026104 233 E -> D Disease Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1 ACY1_HUMAN Q03154 VAR_026105 353 R -> C Disease Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY1 ACY1_HUMAN Q03154 VAR_036076 381 E -> D Disease A breast cancer sample
ACY1 ACY1_HUMAN Q03154 VAR_020452 386 R -> C Polymorphism
ACY1 ACY1_HUMAN Q03154 VAR_043114 393 R -> H Disease Aminoacylase-1 deficiency (ACY1D) [MIM:609924]
ACY3 ACY3_HUMAN Q96HD9 VAR_048341 8 R -> Q Polymorphism
ACY3 ACY3_HUMAN Q96HD9 VAR_048342 281 V -> M Polymorphism
ADA ADA_HUMAN P00813 VAR_002209 8 D -> N Polymorphism
ADA ADA_HUMAN P00813 VAR_002210 15 H -> D Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002211 20 G -> R Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002212 74 G -> C Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002213 76 R -> W Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002214 80 K -> R Polymorphism
ADA ADA_HUMAN P00813 VAR_002215 83 A -> D Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002216 101 R -> L Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002218 101 R -> Q Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002217 101 R -> W Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002219 107 L -> P Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002220 129 V -> M Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002221 140 G -> E Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002222 142 R -> Q Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002223 149 R -> Q Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002224 149 R -> W Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002225 152 L -> M Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002226 156 R -> C Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002227 156 R -> H Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002228 177 V -> M Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002229 179 A -> D Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002230 199 Q -> P Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002231 211 R -> C Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002232 211 R -> H Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002233 215 A -> T Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002234 216 G -> R Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002235 233 T -> I Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002236 274 P -> L Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002237 291 S -> L Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002238 297 P -> Q Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002239 304 L -> R Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADA ADA_HUMAN P00813 VAR_002240 329 A -> V Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
ADAD2 ADAD2_HUMAN Q8NCV1 VAR_036976 44 G -> E Polymorphism
ADAD2 ADAD2_HUMAN Q8NCV1 VAR_055650 235 G -> R Polymorphism
ADAD2 ADAD2_HUMAN Q8NCV1 VAR_036977 307 G -> R Polymorphism
ADAM12 ADA12_HUMAN O43184 VAR_038542 48 G -> R Polymorphism
ADAM12 ADA12_HUMAN O43184 VAR_036143 301 D -> H Disease A breast cancer sample
ADAM12 ADA12_HUMAN O43184 VAR_036144 479 G -> E Disease A breast cancer sample
ADAM12 ADA12_HUMAN O43184 VAR_036145 792 L -> F Disease A breast cancer sample
ADAM15 ADA15_HUMAN Q13444 VAR_060315 191 T -> K Polymorphism
ADAM15 ADA15_HUMAN Q13444 VAR_060316 294 P -> H Polymorphism
ADAM15 ADA15_HUMAN Q13444 VAR_054339 502 P -> Q Polymorphism
ADAM17 ADA17_HUMAN P78536 VAR_051586 162 K -> E Polymorphism
ADAM17 ADA17_HUMAN P78536 VAR_051587 202 R -> G Polymorphism
ADAM18 ADA18_HUMAN Q9Y3Q7 VAR_051588 212 V -> F Polymorphism
ADAM19 ADA19_HUMAN Q9H013 VAR_057066 4 G -> S Polymorphism
ADAM19 ADA19_HUMAN Q9H013 VAR_036146 134 R -> Q Disease A colorectal cancer sample
ADAM19 ADA19_HUMAN Q9H013 VAR_036147 299 A -> T Disease A colorectal cancer sample
ADAM2 ADAM2_HUMAN Q99965 VAR_035217 10 G -> W Polymorphism
ADAM20 ADA20_HUMAN O43506 VAR_047311 19 F -> L Polymorphism
ADAM22 ADA22_HUMAN Q9P0K1 VAR_020057 81 P -> R Polymorphism
ADAM22 ADA22_HUMAN Q9P0K1 VAR_051589 119 H -> Y Polymorphism
ADAM22 ADA22_HUMAN Q9P0K1 VAR_051590 207 V -> I Polymorphism
ADAM28 ADA28_HUMAN Q9UKQ2 VAR_057067 219 R -> M Polymorphism
ADAM28 ADA28_HUMAN Q9UKQ2 VAR_057068 226 E -> D Polymorphism
ADAM28 ADA28_HUMAN Q9UKQ2 VAR_057069 493 N -> S Polymorphism
ADAM28 ADA28_HUMAN Q9UKQ2 VAR_057070 593 T -> K Polymorphism
ADAM28 ADA28_HUMAN Q9UKQ2 VAR_057071 604 T -> P Polymorphism
ADAM28 ADA28_HUMAN Q9UKQ2 VAR_057072 684 M -> I Polymorphism
ADAM28 ADA28_HUMAN Q9UKQ2 VAR_024596 765 M -> V Polymorphism
ADAM29 ADA29_HUMAN Q9UKF5 VAR_036148 31 P -> L Disease A colorectal cancer sample
ADAM29 ADA29_HUMAN Q9UKF5 VAR_036149 205 V -> I Disease A colorectal cancer sample
ADAM30 ADA30_HUMAN Q9UKF2 VAR_024597 359 L -> P Polymorphism
ADAM32 ADA32_HUMAN Q8TC27 VAR_055241 98 Q -> R Polymorphism
ADAM32 ADA32_HUMAN Q8TC27 VAR_055242 160 S -> G Polymorphism
ADAM32 ADA32_HUMAN Q8TC27 VAR_055243 327 L -> V Polymorphism
ADAM32 ADA32_HUMAN Q8TC27 VAR_051591 467 S -> T Polymorphism
ADAM32 ADA32_HUMAN Q8TC27 VAR_055244 658 K -> N Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_030512 109 N -> S Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_029143 178 T -> A Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_030513 272 T -> M Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_030514 316 V -> I Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_030515 336 P -> S Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_030516 365 A -> S Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_030517 441 D -> E Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_030518 515 W -> R Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_030519 612 L -> H Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_030520 710 V -> I Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_030521 739 C -> G Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_030522 742 D -> Y Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_021847 764 M -> T Polymorphism
ADAM33 ADA33_HUMAN Q9BZ11 VAR_029144 774 P -> S Polymorphism
ADAM7 ADAM7_HUMAN Q9H2U9 VAR_046728 25 E -> Q Polymorphism
ADAM7 ADAM7_HUMAN Q9H2U9 VAR_046729 205 I -> V Polymorphism
ADAM7 ADAM7_HUMAN Q9H2U9 VAR_046730 244 V -> M Polymorphism
ADAM7 ADAM7_HUMAN Q9H2U9 VAR_046731 453 I -> T Polymorphism
ADAM7 ADAM7_HUMAN Q9H2U9 VAR_046732 570 L -> V Polymorphism
ADAM7 ADAM7_HUMAN Q9H2U9 VAR_046733 638 N -> H Polymorphism
ADAM7 ADAM7_HUMAN Q9H2U9 VAR_046734 735 L -> P Polymorphism
ADAM8 ADAM8_HUMAN P78325 VAR_059760 101 G -> R Polymorphism
ADAMDEC1 ADEC1_HUMAN O15204 VAR_024598 121 M -> T Polymorphism
ADAMDEC1 ADEC1_HUMAN O15204 VAR_021848 444 N -> S Polymorphism
ADAMTS1 ATS1_HUMAN Q9UHI8 VAR_030001 227 A -> P Polymorphism
ADAMTS10 ATS10_HUMAN Q9H324 VAR_054439 25 A -> T Disease Weill-Marchesani syndrome autosomal recessive (ARWMS) [MIM:277600]
ADAMTS10 ATS10_HUMAN Q9H324 VAR_054440 119 R -> Q Polymorphism
ADAMTS10 ATS10_HUMAN Q9H324 VAR_054441 134 T -> S Polymorphism
ADAMTS12 ATS12_HUMAN P58397 VAR_057074 110 Q -> E Polymorphism
ADAMTS12 ATS12_HUMAN P58397 VAR_057075 1000 R -> Q Polymorphism
ADAMTS12 ATS12_HUMAN P58397 VAR_059761 1177 W -> R Polymorphism
ADAMTS12 ATS12_HUMAN P58397 VAR_058972 1495 T -> I Polymorphism
ADAMTS12 ATS12_HUMAN P58397 VAR_059762 1591 S -> P Polymorphism
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027109 7 R -> W Polymorphism
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027110 88 V -> M Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027111 96 H -> D Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027112 102 R -> C Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027113 193 R -> W Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027114 196 T -> I Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027115 234 H -> Q Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027116 250 A -> V Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027117 268 R -> P Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027118 390 W -> C Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027119 398 R -> H Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027120 448 Q -> E Polymorphism
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027162 456 Q -> H Polymorphism
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027163 457 P -> L Polymorphism
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027121 475 P -> S Unclassified
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027122 508 C -> Y Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027123 528 R -> G Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027124 618 P -> A Unclassified
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027125 625 R -> H Polymorphism
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027126 673 I -> F Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027127 692 R -> C Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027128 732 A -> V Unclassified
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027164 740 E -> K Polymorphism
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027129 900 A -> V Polymorphism
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027130 903 S -> L Polymorphism
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027131 908 C -> Y Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027132 951 C -> G Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027165 982 G -> R Polymorphism
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027133 1024 C -> G Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027134 1033 A -> T Polymorphism
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027135 1095 R -> W Unclassified
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027136 1123 R -> C Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027137 1213 C -> Y Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027166 1226 T -> I Polymorphism
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027138 1239 G -> V Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS13 ATS13_HUMAN Q76LX8 VAR_027139 1336 R -> W Disease Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
ADAMTS14 ATS14_HUMAN Q8WXS8 VAR_047837 179 R -> C Polymorphism
ADAMTS14 ATS14_HUMAN Q8WXS8 VAR_047838 590 P -> L Polymorphism
ADAMTS14 ATS14_HUMAN Q8WXS8 VAR_047839 937 L -> M Polymorphism
ADAMTS14 ATS14_HUMAN Q8WXS8 VAR_047840 1017 S -> N Polymorphism
ADAMTS14 ATS14_HUMAN Q8WXS8 VAR_047841 1049 E -> G Polymorphism
ADAMTS15 ATS15_HUMAN Q8TE58 VAR_051594 623 N -> S Polymorphism
ADAMTS15 ATS15_HUMAN Q8TE58 VAR_036150 770 Q -> R Disease A colorectal cancer sample
ADAMTS15 ATS15_HUMAN Q8TE58 VAR_036151 878 C -> G Disease A colorectal cancer sample
ADAMTS16 ATS16_HUMAN Q8TE57 VAR_057076 110 M -> V Polymorphism
ADAMTS16 ATS16_HUMAN Q8TE57 VAR_057077 486 A -> T Polymorphism
ADAMTS16 ATS16_HUMAN Q8TE57 VAR_057078 789 R -> C Polymorphism
ADAMTS16 ATS16_HUMAN Q8TE57 VAR_057079 859 R -> L Polymorphism
ADAMTS16 ATS16_HUMAN Q8TE57 VAR_057080 863 E -> K Polymorphism
ADAMTS17 ATS17_HUMAN Q8TE56 VAR_057081 216 S -> L Polymorphism
ADAMTS17 ATS17_HUMAN Q8TE56 VAR_057082 482 M -> T Polymorphism
ADAMTS17 ATS17_HUMAN Q8TE56 VAR_060317 1094 S -> N Polymorphism
ADAMTS18 ATS18_HUMAN Q8TE60 VAR_060231 191 H -> Y Polymorphism
ADAMTS18 ATS18_HUMAN Q8TE60 VAR_036152 382 R -> K Disease A colorectal cancer sample
ADAMTS18 ATS18_HUMAN Q8TE60 VAR_036153 455 K -> T Disease A colorectal cancer sample
ADAMTS18 ATS18_HUMAN Q8TE60 VAR_060232 626 I -> L Polymorphism
ADAMTS18 ATS18_HUMAN Q8TE60 VAR_057083 769 L -> I Polymorphism
ADAMTS18 ATS18_HUMAN Q8TE60 VAR_057084 946 A -> S Polymorphism
ADAMTS18 ATS18_HUMAN Q8TE60 VAR_057085 1080 S -> R Polymorphism
ADAMTS18 ATS18_HUMAN Q8TE60 VAR_057086 1159 S -> T Polymorphism
ADAMTS19 ATS19_HUMAN Q8TE59 VAR_036154 360 L -> I Disease A breast cancer sample
ADAMTS19 ATS19_HUMAN Q8TE59 VAR_057087 582 E -> G Polymorphism
ADAMTS19 ATS19_HUMAN Q8TE59 VAR_024599 1089 Y -> F Polymorphism
ADAMTS2 ATS2_HUMAN O95450 VAR_047927 74 V -> M Polymorphism
ADAMTS2 ATS2_HUMAN O95450 VAR_047928 241 R -> H Polymorphism
ADAMTS2 ATS2_HUMAN O95450 VAR_020058 245 V -> I Polymorphism
ADAMTS2 ATS2_HUMAN O95450 VAR_047929 331 E -> K Polymorphism
ADAMTS2 ATS2_HUMAN O95450 VAR_047930 665 G -> R Polymorphism
ADAMTS2 ATS2_HUMAN O95450 VAR_047931 827 R -> Q Polymorphism
ADAMTS2 ATS2_HUMAN O95450 VAR_020059 1177 P -> S Polymorphism
ADAMTS20 ATS20_HUMAN P59510 VAR_057088 876 K -> M Polymorphism
ADAMTS20 ATS20_HUMAN P59510 VAR_057089 1000 R -> H Polymorphism
ADAMTS20 ATS20_HUMAN P59510 VAR_057090 1273 S -> F Polymorphism
ADAMTS3 ATS3_HUMAN O15072 VAR_055012 138 K -> R Polymorphism
ADAMTS3 ATS3_HUMAN O15072 VAR_055013 1074 S -> P Polymorphism
ADAMTS4 ATS4_HUMAN O75173 VAR_030636 4 T -> I Polymorphism
ADAMTS4 ATS4_HUMAN O75173 VAR_057073 77 A -> T Polymorphism
ADAMTS4 ATS4_HUMAN O75173 VAR_030637 304 D -> N Polymorphism
ADAMTS4 ATS4_HUMAN O75173 VAR_030638 369 M -> V Polymorphism
ADAMTS4 ATS4_HUMAN O75173 VAR_030639 552 P -> T Polymorphism
ADAMTS4 ATS4_HUMAN O75173 VAR_030640 564 T -> A Polymorphism
ADAMTS4 ATS4_HUMAN O75173 VAR_022450 626 R -> Q Polymorphism
ADAMTS4 ATS4_HUMAN O75173 VAR_030641 836 R -> K Polymorphism
ADAMTS5 ATS5_HUMAN Q9UNA0 VAR_028199 138 A -> G Polymorphism
ADAMTS5 ATS5_HUMAN Q9UNA0 VAR_021849 614 R -> H Polymorphism
ADAMTS5 ATS5_HUMAN Q9UNA0 VAR_028200 692 P -> L Polymorphism
ADAMTS7 ATS7_HUMAN Q9UKP4 VAR_046112 214 S -> P Polymorphism
ADAMTS7 ATS7_HUMAN Q9UKP4 VAR_046113 307 T -> M Polymorphism
ADAMTS7 ATS7_HUMAN Q9UKP4 VAR_046114 1319 T -> A Polymorphism
ADAMTS7 ATS7_HUMAN Q9UKP4 VAR_046115 1414 G -> S Polymorphism
ADAMTS7 ATS7_HUMAN Q9UKP4 VAR_046116 1583 G -> A Polymorphism
ADAMTS9 ATS9_HUMAN Q9P2N4 VAR_047081 96 S -> P Polymorphism
ADAMTS9 ATS9_HUMAN Q9P2N4 VAR_051592 96 S -> T Polymorphism
ADAMTS9 ATS9_HUMAN Q9P2N4 VAR_047082 1579 K -> E Polymorphism
ADAMTS9 ATS9_HUMAN Q9P2N4 VAR_047083 1674 D -> E Polymorphism
ADAMTS9 ATS9_HUMAN Q9P2N4 VAR_047084 1740 K -> R Polymorphism
ADAMTS9 ATS9_HUMAN Q9P2N4 VAR_047085 1791 E -> Q Polymorphism
ADAMTS9 ATS9_HUMAN Q9P2N4 VAR_051593 1921 K -> E Polymorphism
ADAMTS9 ATS9_HUMAN Q9P2N4 VAR_047086 1933 R -> Q Polymorphism
ADAMTSL1 ATL1_HUMAN Q8N6G6 VAR_017174 242 S -> N Polymorphism
ADAMTSL2 ATL2_HUMAN Q86TH1 VAR_054874 113 R -> H Disease Geleophysic dysplasia [MIM:231050]
ADAMTSL2 ATL2_HUMAN Q86TH1 VAR_054875 114 E -> K Disease Geleophysic dysplasia [MIM:231050]
ADAMTSL2 ATL2_HUMAN Q86TH1 VAR_054876 147 P -> L Disease Geleophysic dysplasia [MIM:231050]
ADAMTSL2 ATL2_HUMAN Q86TH1 VAR_046011 364 V -> I Polymorphism
ADAMTSL2 ATL2_HUMAN Q86TH1 VAR_054877 811 G -> R Disease Geleophysic dysplasia [MIM:231050]
ADAMTSL3 ATL3_HUMAN P82987 VAR_027478 146 H -> R Polymorphism
ADAMTSL3 ATL3_HUMAN P82987 VAR_027479 290 L -> V Polymorphism
ADAMTSL3 ATL3_HUMAN P82987 VAR_035809 330 V -> M Disease A colorectal cancer sample
ADAMTSL3 ATL3_HUMAN P82987 VAR_035810 587 R -> H Disease A colorectal cancer sample
ADAMTSL3 ATL3_HUMAN P82987 VAR_027480 661 V -> L Polymorphism
ADAMTSL3 ATL3_HUMAN P82987 VAR_057365 713 G -> R Polymorphism
ADAMTSL3 ATL3_HUMAN P82987 VAR_035811 855 R -> C Disease A colorectal cancer sample
ADAMTSL3 ATL3_HUMAN P82987 VAR_027481 855 R -> H Polymorphism
ADAMTSL3 ATL3_HUMAN P82987 VAR_027482 869 L -> F Polymorphism
ADAMTSL3 ATL3_HUMAN P82987 VAR_035812 1315 A -> E Disease A colorectal cancer sample
ADAMTSL3 ATL3_HUMAN P82987 VAR_027483 1370 T -> A Polymorphism
ADAMTSL3 ATL3_HUMAN P82987 VAR_027484 1558 M -> T Polymorphism
ADAMTSL3 ATL3_HUMAN P82987 VAR_027485 1660 T -> I Polymorphism
ADAMTSL3 ATL3_HUMAN P82987 VAR_027486 1679 R -> H Polymorphism
ADAP1 ADAP1_HUMAN O75689 VAR_047470 241 G -> S Polymorphism
ADAR DSRAD_HUMAN P55265 VAR_048725 100 G -> R Polymorphism
ADAR DSRAD_HUMAN P55265 VAR_017240 384 K -> R Polymorphism
ADAR DSRAD_HUMAN P55265 VAR_024407 587 Y -> C Polymorphism
ADAR DSRAD_HUMAN P55265 VAR_035805 806 E -> V Disease A breast cancer sample
ADAR DSRAD_HUMAN P55265 VAR_017604 923 L -> P Disease Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]
ADAR DSRAD_HUMAN P55265 VAR_021729 966 C -> F Disease Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]
ADAR DSRAD_HUMAN P55265 VAR_026669 1155 R -> W Disease Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]
ADAR DSRAD_HUMAN P55265 VAR_017605 1165 F -> S Disease Dyschromatosis symmetrical hereditaria (DSH) [MIM:127400]
ADARB2 RED2_HUMAN Q9NS39 VAR_020438 44 A -> T Polymorphism
ADARB2 RED2_HUMAN Q9NS39 VAR_035806 210 T -> M Disease A colorectal cancer sample
ADARB2 RED2_HUMAN Q9NS39 VAR_035807 512 V -> I Disease A colorectal cancer sample
ADARB2 RED2_HUMAN Q9NS39 VAR_048726 626 A -> T Polymorphism
ADAT1 ADAT1_HUMAN Q9BUB4 VAR_032340 167 H -> N Polymorphism
ADAT1 ADAT1_HUMAN Q9BUB4 VAR_032341 203 T -> N Polymorphism
ADAT1 ADAT1_HUMAN Q9BUB4 VAR_055649 242 T -> P Polymorphism
ADAT3 ADAT3_HUMAN Q96EY9 VAR_035804 332 R -> C Disease A breast cancer sample
ADC ADC_HUMAN Q96A70 VAR_050611 288 A -> S Polymorphism
ADCK2 ADCK2_HUMAN Q7Z695 VAR_029992 307 S -> P Polymorphism
ADCK2 ADCK2_HUMAN Q7Z695 VAR_041418 418 V -> L Polymorphism
ADCK2 ADCK2_HUMAN Q7Z695 VAR_029993 418 V -> M Polymorphism
ADCK2 ADCK2_HUMAN Q7Z695 VAR_029994 622 P -> L Polymorphism
ADCK2 ADCK2_HUMAN Q7Z695 VAR_041419 626 P -> L Polymorphism
ADCK4 ADCK4_HUMAN Q96D53 VAR_041420 78 R -> C Polymorphism
ADCK4 ADCK4_HUMAN Q96D53 VAR_029995 174 H -> R Polymorphism
ADCK4 ADCK4_HUMAN Q96D53 VAR_041421 318 T -> M Polymorphism
ADCK4 ADCK4_HUMAN Q96D53 VAR_041422 352 T -> R Polymorphism
ADCK4 ADCK4_HUMAN Q96D53 VAR_041423 462 T -> M Polymorphism
ADCK5 ADCK5_HUMAN Q3MIX3 VAR_029996 17 R -> S Polymorphism
ADCY1 ADCY1_HUMAN Q08828 VAR_029186 456 P -> L Polymorphism
ADCY1 ADCY1_HUMAN Q08828 VAR_029187 940 A -> T Polymorphism
ADCY1 ADCY1_HUMAN Q08828 VAR_048246 984 V -> M Polymorphism
ADCY10 ADCYA_HUMAN Q96PN6 VAR_038476 234 T -> M Polymorphism
ADCY10 ADCYA_HUMAN Q96PN6 VAR_038477 697 V -> I Polymorphism
ADCY2 ADCY2_HUMAN Q08462 VAR_029012 147 V -> L Polymorphism
ADCY2 ADCY2_HUMAN Q08462 VAR_048247 163 V -> I Polymorphism
ADCY3 ADCY3_HUMAN O60266 VAR_048248 107 S -> P Polymorphism
ADCY6 ADCY6_HUMAN O43306 VAR_048249 674 A -> S Polymorphism
ADCY8 ADCY8_HUMAN P40145 VAR_029188 80 A -> T Polymorphism
ADCY8 ADCY8_HUMAN P40145 VAR_036328 881 F -> L Disease A colorectal cancer sample
ADCY9 ADCY9_HUMAN O60503 VAR_023750 772 I -> M Polymorphism
ADCYAP1 PACA_HUMAN P18509 VAR_014597 54 D -> G Polymorphism
ADD1 ADDA_HUMAN P35611 VAR_022108 6 R -> C Polymorphism
ADD1 ADDA_HUMAN P35611 VAR_014863 270 Y -> N Polymorphism
ADD1 ADDA_HUMAN P35611 VAR_014864 376 E -> D Polymorphism
ADD1 ADDA_HUMAN P35611 VAR_014184 460 G -> W Polymorphism
ADD1 ADDA_HUMAN P35611 VAR_014865 510 N -> I Polymorphism
ADD1 ADDA_HUMAN P35611 VAR_014185 586 S -> C Polymorphism
ADD2 ADDB_HUMAN P35612 VAR_014866 28 D -> N Polymorphism
ADD2 ADDB_HUMAN P35612 VAR_048195 98 S -> C Polymorphism
ADD2 ADDB_HUMAN P35612 VAR_014867 335 E -> D Polymorphism
ADD2 ADDB_HUMAN P35612 VAR_025318 439 T -> A Polymorphism
ADD2 ADDB_HUMAN P35612 VAR_014868 663 S -> R Polymorphism
ADH1B ADH1B_HUMAN P00325 VAR_000426 48 R -> H Polymorphism
ADH1B ADH1B_HUMAN P00325 VAR_019322 57 N -> K Polymorphism
ADH1B ADH1B_HUMAN P00325 VAR_019323 60 T -> S Polymorphism
ADH1B ADH1B_HUMAN P00325 VAR_000427 370 R -> C Polymorphism
ADH1C ADH1G_HUMAN P00326 VAR_023992 48 R -> H Polymorphism
ADH1C ADH1G_HUMAN P00326 VAR_023993 166 P -> S Polymorphism
ADH1C ADH1G_HUMAN P00326 VAR_000428 272 R -> Q Polymorphism
ADH1C ADH1G_HUMAN P00326 VAR_000429 350 I -> V Polymorphism
ADH1C ADH1G_HUMAN P00326 VAR_023994 352 P -> T Polymorphism
ADH4 ADH4_HUMAN P08319 VAR_023461 309 V -> I Polymorphism
ADH4 ADH4_HUMAN P08319 VAR_023462 318 R -> H Polymorphism
ADH4 ADH4_HUMAN P08319 VAR_023463 374 I -> V Polymorphism
ADH5 ADHX_HUMAN P11766 VAR_025823 163 L -> S Polymorphism
ADH5 ADHX_HUMAN P11766 VAR_025824 309 V -> I Polymorphism
ADH5 ADHX_HUMAN P11766 VAR_048199 353 D -> E Polymorphism
ADH6 ADH6_HUMAN P28332 VAR_022655 102 C -> G Polymorphism
ADH6 ADH6_HUMAN P28332 VAR_022656 114 I -> V Polymorphism
ADH6 ADH6_HUMAN P28332 VAR_048198 151 T -> P Polymorphism
ADH7 ADH7_HUMAN P40394 VAR_024364 80 G -> A Polymorphism
ADHFE1 HOT_HUMAN Q8IWW8 VAR_039470 242 D -> V Disease A breast cancer sample
ADHFE1 HOT_HUMAN Q8IWW8 VAR_054015 449 C -> R Polymorphism
ADIPOQ ADIPO_HUMAN Q15848 VAR_013273 84 G -> R Unclassified
ADIPOQ ADIPO_HUMAN Q15848 VAR_027395 90 G -> S Unclassified
ADIPOQ ADIPO_HUMAN Q15848 VAR_027396 111 Y -> H Polymorphism
ADIPOQ ADIPO_HUMAN Q15848 VAR_013274 112 R -> C Disease Adiponectin deficiency (ADPND) [MIM:612556]
ADIPOQ ADIPO_HUMAN Q15848 VAR_013275 117 V -> M Polymorphism
ADIPOQ ADIPO_HUMAN Q15848 VAR_013276 164 I -> T Unclassified
ADIPOQ ADIPO_HUMAN Q15848 VAR_013277 221 R -> S Polymorphism
ADIPOQ ADIPO_HUMAN Q15848 VAR_013278 241 H -> P Polymorphism
ADIPOR2 ADR2_HUMAN Q86V24 VAR_048203 39 Q -> R Polymorphism
ADM ADML_HUMAN P35318 VAR_014861 50 S -> R Polymorphism
ADM ADML_HUMAN P35318 VAR_048205 85 P -> R Polymorphism
ADO AEDO_HUMAN Q96SZ5 VAR_025333 25 G -> W Polymorphism
ADO AEDO_HUMAN Q96SZ5 VAR_025334 39 P -> A Polymorphism
ADO AEDO_HUMAN Q96SZ5 VAR_033691 266 P -> S Polymorphism
ADORA1 AA1R_HUMAN P30542 VAR_044138 43 A -> S Polymorphism
ADORA1 AA1R_HUMAN P30542 VAR_044139 50 S -> P Polymorphism
ADORA1 AA1R_HUMAN P30542 VAR_044140 105 R -> H Polymorphism
ADORA1 AA1R_HUMAN P30542 VAR_035754 170 E -> K Disease A colorectal cancer sample
ADORA1 AA1R_HUMAN P30542 VAR_044141 261 P -> Q Polymorphism
ADORA2A AA2AR_HUMAN P29274 VAR_011835 50 A -> V Polymorphism
ADORA2A AA2AR_HUMAN P29274 VAR_011836 300 R -> H Polymorphism
ADORA2A AA2AR_HUMAN P29274 VAR_003451 392 G -> R Polymorphism
ADORA3 AA3R_HUMAN P33765 VAR_035755 105 A -> T Disease A colorectal cancer sample
ADORA3 AA3R_HUMAN P33765 VAR_049366 248 I -> L Polymorphism
ADORA3 AA3R_HUMAN P33765 VAR_049367 266 M -> K Polymorphism
ADPGK ADPGK_HUMAN Q9BRR6 VAR_060085 184 K -> R Polymorphism
ADPRHL1 ARHL1_HUMAN Q8NDY3 VAR_048890 7 A -> V Polymorphism
ADPRHL2 ARHL2_HUMAN Q9NX46 VAR_030579 209 E -> K Polymorphism
ADRA1A ADA1A_HUMAN P35348 VAR_035756 40 G -> W Disease A breast cancer sample
ADRA1A ADA1A_HUMAN P35348 VAR_049370 200 I -> S Polymorphism
ADRA1A ADA1A_HUMAN P35348 VAR_019509 347 C -> R Polymorphism
ADRA1A ADA1A_HUMAN P35348 VAR_049371 414 K -> R Polymorphism
ADRA1A ADA1A_HUMAN P35348 VAR_049372 465 E -> D Polymorphism
ADRA1B ADA1B_HUMAN P35368 VAR_019510 51 V -> G Polymorphism
ADRA2A ADA2A_HUMAN P08913 VAR_014957 251 N -> K Polymorphism
ADRA2A ADA2A_HUMAN P08913 VAR_055908 386 C -> S Polymorphism
ADRA2B ADA2B_HUMAN P18089 VAR_025099 211 G -> A Polymorphism
ADRA2B ADA2B_HUMAN P18089 VAR_033462 376 V -> I Polymorphism
ADRA2B ADA2B_HUMAN P18089 VAR_025100 379 V -> G Polymorphism
ADRA2B ADA2B_HUMAN P18089 VAR_033463 379 V -> I Polymorphism
ADRB1 ADRB1_HUMAN P08588 VAR_055909 26 A -> V Polymorphism
ADRB1 ADRB1_HUMAN P08588 VAR_055910 29 A -> T Polymorphism
ADRB1 ADRB1_HUMAN P08588 VAR_055911 31 R -> Q Polymorphism
ADRB1 ADRB1_HUMAN P08588 VAR_009879 49 S -> G Polymorphism
ADRB1 ADRB1_HUMAN P08588 VAR_009880 389 R -> G Polymorphism
ADRB1 ADRB1_HUMAN P08588 VAR_018742 389 R -> L Polymorphism
ADRB1 ADRB1_HUMAN P08588 VAR_055912 399 R -> H Polymorphism
ADRB1 ADRB1_HUMAN P08588 VAR_055913 405 H -> Y Polymorphism
ADRB2 ADRB2_HUMAN P07550 VAR_049373 15 N -> S Polymorphism
ADRB2 ADRB2_HUMAN P07550 VAR_003452 16 G -> R Polymorphism
ADRB2 ADRB2_HUMAN P07550 VAR_003453 27 Q -> E Polymorphism
ADRB2 ADRB2_HUMAN P07550 VAR_003454 34 V -> M Polymorphism
ADRB2 ADRB2_HUMAN P07550 VAR_009125 159 I -> F Polymorphism
ADRB2 ADRB2_HUMAN P07550 VAR_009124 159 I -> L Polymorphism
ADRB2 ADRB2_HUMAN P07550 VAR_003455 164 T -> I Polymorphism
ADRB2 ADRB2_HUMAN P07550 VAR_025101 220 S -> C Polymorphism
ADRB2 ADRB2_HUMAN P07550 VAR_009394 375 K -> R Polymorphism
ADRB3 ADRB3_HUMAN P13945 VAR_003456 64 W -> R Polymorphism
ADRB3 ADRB3_HUMAN P13945 VAR_029205 249 E -> K Polymorphism
ADRB3 ADRB3_HUMAN P13945 VAR_014166 265 T -> M Polymorphism
ADRB3 ADRB3_HUMAN P13945 VAR_025102 353 R -> C Polymorphism
ADRBK1 ARBK1_HUMAN P25098 VAR_040378 184 I -> T Polymorphism
ADRBK1 ARBK1_HUMAN P25098 VAR_040379 578 R -> Q Disease A colorectal adenocarcinoma sample
ADRBK2 ARBK2_HUMAN P35626 VAR_040380 50 R -> S Polymorphism
ADRBK2 ARBK2_HUMAN P35626 VAR_040381 60 N -> S Polymorphism
ADRBK2 ARBK2_HUMAN P35626 VAR_040382 104 R -> K Disease A lung bronchoalveolar carcinoma sample
ADRBK2 ARBK2_HUMAN P35626 VAR_028005 409 V -> M Polymorphism
ADSL PUR8_HUMAN P30566 VAR_016930 2 A -> V Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017078 3 A -> V Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_016931 26 M -> L Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_037883 31 S -> N Polymorphism
ADSL PUR8_HUMAN P30566 VAR_007972 72 I -> V Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017079 100 P -> A Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017080 114 Y -> H Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_007973 141 R -> W Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_037884 147 K -> M Polymorphism
ADSL PUR8_HUMAN P30566 VAR_007974 190 R -> Q Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017081 194 R -> C Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_007975 246 K -> E Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017082 268 D -> N Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_007976 303 R -> C Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017083 311 L -> V Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017084 318 P -> L Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017085 364 V -> M Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017086 374 R -> W Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_007977 395 S -> R Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017087 396 R -> C Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017088 396 R -> H Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017089 422 D -> Y Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017090 423 L -> V Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_007978 426 R -> H Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017091 430 D -> N Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_000680 438 S -> P Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017092 447 S -> P Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_016932 450 T -> S Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSL PUR8_HUMAN P30566 VAR_017093 452 R -> P Disease Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
ADSS PURA2_HUMAN P30520 VAR_051881 179 L -> F Polymorphism
AEBP1 AEBP1_HUMAN Q8IUX7 VAR_043118 273 P -> T Polymorphism
AEBP1 AEBP1_HUMAN Q8IUX7 VAR_043119 648 D -> E Polymorphism
AEBP1 AEBP1_HUMAN Q8IUX7 VAR_043120 1001 P -> L Polymorphism
AEBP1 AEBP1_HUMAN Q8IUX7 VAR_043121 1133 K -> E Polymorphism
AEBP1 AEBP1_HUMAN Q8IUX7 VAR_043122 1148 V -> I Polymorphism
AEN AEN_HUMAN Q8WTP8 VAR_039651 15 P -> L Polymorphism
AEN AEN_HUMAN Q8WTP8 VAR_039652 88 S -> C Polymorphism
AEN AEN_HUMAN Q8WTP8 VAR_039653 140 D -> N Polymorphism
AES AES_HUMAN Q08117 VAR_011958 168 A -> E Polymorphism
AFAF AFAF_HUMAN Q9NQ60 VAR_032136 101 N -> D Polymorphism
AFAF AFAF_HUMAN Q9NQ60 VAR_056727 110 I -> T Polymorphism
AFAF AFAF_HUMAN Q9NQ60 VAR_032137 274 T -> K Polymorphism
AFAP1 AFAP1_HUMAN Q8N556 VAR_038578 403 S -> C Polymorphism
AFAP1 AFAP1_HUMAN Q8N556 VAR_038579 518 V -> M Polymorphism
AFAP1L2 AF1L2_HUMAN Q8N4X5 VAR_050505 138 G -> R Polymorphism
AFAP1L2 AF1L2_HUMAN Q8N4X5 VAR_050506 366 S -> R Polymorphism
AFAP1L2 AF1L2_HUMAN Q8N4X5 VAR_050507 522 T -> S Polymorphism
AFAP1L2 AF1L2_HUMAN Q8N4X5 VAR_054214 726 E -> K Polymorphism
AFF1 AFF1_HUMAN P51825 VAR_020370 209 P -> A Polymorphism
AFF1 AFF1_HUMAN P51825 VAR_036130 1204 Q -> K Disease A breast cancer sample
AFF2 AFF2_HUMAN P51816 VAR_028217 1185 L -> M Polymorphism
AFF3 AFF3_HUMAN P51826 VAR_030805 358 S -> N Polymorphism
AFF3 AFF3_HUMAN P51826 VAR_030806 494 N -> S Polymorphism
AFF4 AFF4_HUMAN Q9UHB7 VAR_053003 136 T -> P Polymorphism
AFM AFAM_HUMAN P43652 VAR_048218 404 T -> S Polymorphism
AFP FETA_HUMAN P02771 VAR_033928 187 K -> Q Polymorphism
AFP FETA_HUMAN P02771 VAR_012049 570 A -> G Polymorphism
AFTPH AFTIN_HUMAN Q6ULP2 VAR_056728 233 D -> G Polymorphism
AFTPH AFTIN_HUMAN Q6ULP2 VAR_056729 301 E -> K Polymorphism
AFTPH AFTIN_HUMAN Q6ULP2 VAR_056730 550 N -> S Polymorphism
AG2 AG2_HUMAN Q7Z7L8 VAR_039242 26 T -> A Polymorphism
AG2 AG2_HUMAN Q7Z7L8 VAR_039243 47 S -> P Polymorphism
AG2 AG2_HUMAN Q7Z7L8 VAR_039244 110 R -> S Polymorphism
AG2 AG2_HUMAN Q7Z7L8 VAR_039245 144 R -> C Polymorphism
AG2 AG2_HUMAN Q7Z7L8 VAR_039246 151 F -> S Polymorphism
AG2 AG2_HUMAN Q7Z7L8 VAR_039247 352 P -> S Polymorphism
AGA ASPG_HUMAN P20933 VAR_015427 12 V -> L Disease Aspartylglucosaminuria (AGU) [MIM:208400]
AGA ASPG_HUMAN P20933 VAR_005069 60 G -> D Disease Aspartylglucosaminuria (AGU) [MIM:208400]
AGA ASPG_HUMAN P20933 VAR_005070 72 S -> P Disease Aspartylglucosaminuria (AGU) [MIM:208400]
AGA ASPG_HUMAN P20933 VAR_015428 100 G -> E Disease Aspartylglucosaminuria (AGU) [MIM:208400]
AGA ASPG_HUMAN P20933 VAR_005071 101 A -> V Disease Aspartylglucosaminuria (AGU) [MIM:208400]
AGA ASPG_HUMAN P20933 VAR_015429 135 F -> S Disease Aspartylglucosaminuria (AGU) [MIM:208400]
AGA ASPG_HUMAN P20933 VAR_033533 149 S -> T Polymorphism
AGA ASPG_HUMAN P20933 VAR_005072 161 R -> Q Disease Aspartylglucosaminuria (AGU) [MIM:208400]
AGA ASPG_HUMAN P20933 VAR_005073 163 C -> S Disease Aspartylglucosaminuria (AGU) [MIM:208400]
AGA ASPG_HUMAN P20933 VAR_015430 252 G -> E Disease Aspartylglucosaminuria (AGU) [MIM:208400]
AGA ASPG_HUMAN P20933 VAR_015431 252 G -> R Disease Aspartylglucosaminuria (AGU) [MIM:208400]
AGA ASPG_HUMAN P20933 VAR_015432 257 T -> I Disease Aspartylglucosaminuria (AGU) [MIM:208400]
AGA ASPG_HUMAN P20933 VAR_005074 302 G -> R Disease Aspartylglucosaminuria (AGU) [MIM:208400]
AGA ASPG_HUMAN P20933 VAR_005075 306 C -> R Disease Aspartylglucosaminuria (AGU) [MIM:208400]
AGAP1 AGAP1_HUMAN Q9UPQ3 VAR_026446 82 S -> G Unclassified
AGAP1 AGAP1_HUMAN Q9UPQ3 VAR_026447 148 D -> G Polymorphism
AGAP1 AGAP1_HUMAN Q9UPQ3 VAR_048331 522 P -> L Polymorphism
AGAP1 AGAP1_HUMAN Q9UPQ3 VAR_026448 671 V -> I Polymorphism
AGAP1 AGAP1_HUMAN Q9UPQ3 VAR_026449 798 R -> G Unclassified
AGAP1 AGAP1_HUMAN Q9UPQ3 VAR_019550 829 E -> K Polymorphism
AGAP1 AGAP1_HUMAN Q9UPQ3 VAR_026450 854 P -> T Unclassified
AGAP11 AGA11_HUMAN Q8TF27 VAR_042518 82 I -> V Polymorphism
AGAP2 AGAP2_HUMAN Q99490 VAR_036183 339 T -> A Disease A breast cancer sample
AGAP2 AGAP2_HUMAN Q99490 VAR_026438 455 V -> A Disease A glioblastoma cell line
AGAP2 AGAP2_HUMAN Q99490 VAR_022046 507 G -> S Polymorphism
AGAP2 AGAP2_HUMAN Q99490 VAR_026439 518 R -> G Disease A sarcoma cell line
AGAP2 AGAP2_HUMAN Q99490 VAR_026440 568 T -> I Unclassified
AGAP2 AGAP2_HUMAN Q99490 VAR_026441 651 A -> V Disease A glioblastoma cell line
AGAP2 AGAP2_HUMAN Q99490 VAR_026442 767 E -> V Disease A glioblastoma cell line
AGAP2 AGAP2_HUMAN Q99490 VAR_036184 816 D -> Y Disease A breast cancer sample
AGAP2 AGAP2_HUMAN Q99490 VAR_026443 939 N -> D Disease A glioblastoma cell line
AGAP2 AGAP2_HUMAN Q99490 VAR_026444 947 V -> M Disease A sarcoma cell line
AGAP2 AGAP2_HUMAN Q99490 VAR_026445 1022 S -> P Disease A glioblastoma cell line
AGAP2 AGAP2_HUMAN Q99490 VAR_055532 1124 G -> V Polymorphism
AGAP4 AGAP4_HUMAN Q96P64 VAR_031804 661 E -> K Polymorphism
AGBL1 CBPC4_HUMAN Q96MI9 VAR_048604 417 P -> L Polymorphism
AGBL1 CBPC4_HUMAN Q96MI9 VAR_048605 435 S -> P Polymorphism
AGBL1 CBPC4_HUMAN Q96MI9 VAR_059195 1010 Q -> R Polymorphism
AGBL2 CBPC2_HUMAN Q5U5Z8 VAR_046637 90 I -> R Polymorphism
AGBL2 CBPC2_HUMAN Q5U5Z8 VAR_046638 333 T -> P Polymorphism
AGBL2 CBPC2_HUMAN Q5U5Z8 VAR_031572 349 R -> H Polymorphism
AGBL2 CBPC2_HUMAN Q5U5Z8 VAR_046639 368 D -> G Polymorphism
AGBL2 CBPC2_HUMAN Q5U5Z8 VAR_046640 671 M -> I Polymorphism
AGBL3 CBPC3_HUMAN Q8NEM8 VAR_031573 45 F -> Y Polymorphism
AGBL3 CBPC3_HUMAN Q8NEM8 VAR_031574 122 E -> Q Polymorphism
AGBL3 CBPC3_HUMAN Q8NEM8 VAR_031575 360 T -> I Polymorphism
AGBL5 CBPC5_HUMAN Q8NDL9 VAR_035231 649 G -> D Polymorphism
AGER RAGE_HUMAN Q15109 VAR_024500 82 G -> S Polymorphism
AGER RAGE_HUMAN Q15109 VAR_011338 100 Q -> R Polymorphism
AGFG2 AGFG2_HUMAN O95081 VAR_050566 365 T -> N Polymorphism
AGGF1 AGGF1_HUMAN Q8N302 VAR_017901 133 E -> K Disease Klippel-Trenaunay syndrome (KTS) [MIM:149000]
AGGF1 AGGF1_HUMAN Q8N302 VAR_037446 180 T -> A Polymorphism
AGGF1 AGGF1_HUMAN Q8N302 VAR_037447 471 L -> P Polymorphism
AGGF1 AGGF1_HUMAN Q8N302 VAR_017902 698 P -> T Polymorphism
AGK AGK_HUMAN Q53H12 VAR_027848 3 V -> M Polymorphism
AGL GDE_HUMAN P35573 VAR_032084 38 T -> A Polymorphism
AGL GDE_HUMAN P35573 VAR_028051 229 Q -> R Polymorphism
AGL GDE_HUMAN P35573 VAR_009621 387 R -> Q Polymorphism
AGL GDE_HUMAN P35573 VAR_028052 701 A -> S Polymorphism
AGL GDE_HUMAN P35573 VAR_032085 962 S -> C Polymorphism
AGL GDE_HUMAN P35573 VAR_020389 1067 P -> S Polymorphism
AGL GDE_HUMAN P35573 VAR_009230 1115 G -> R Polymorphism
AGL GDE_HUMAN P35573 VAR_028053 1144 I -> N Polymorphism
AGL GDE_HUMAN P35573 VAR_051010 1207 A -> T Polymorphism
AGL GDE_HUMAN P35573 VAR_028054 1253 R -> H Polymorphism
AGL GDE_HUMAN P35573 VAR_009622 1343 E -> K Polymorphism
AGL GDE_HUMAN P35573 VAR_009231 1448 G -> R Disease Glycogen storage disease type 3 (GSD3) [MIM:232400]
AGL GDE_HUMAN P35573 VAR_028055 1487 R -> G Polymorphism
AGMAT SPEB_HUMAN Q9BSE5 VAR_023485 105 G -> R Polymorphism
AGMAT SPEB_HUMAN Q9BSE5 VAR_048332 140 R -> Q Polymorphism
AGPAT1 PLCA_HUMAN Q99943 VAR_050593 30 P -> S Polymorphism
AGPAT2 PLCB_HUMAN O15120 VAR_017328 136 G -> R Disease Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]
AGPAT2 PLCB_HUMAN O15120 VAR_017327 228 L -> P Disease Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]
AGPAT2 PLCB_HUMAN O15120 VAR_017325 239 A -> V Disease Congenital generalized lipodystrophy type 1 (CGL1) [MIM:608594]
AGPAT5 PLCE_HUMAN Q9NUQ2 VAR_022696 77 Y -> C Polymorphism
AGPS ADAS_HUMAN O00116 VAR_025895 309 T -> I Disease Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
AGPS ADAS_HUMAN O00116 VAR_005002 419 R -> H Disease Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
AGPS ADAS_HUMAN O00116 VAR_025896 469 L -> P Disease Rhizomelic chondrodysplasia punctata type 3 (RCDP3) [MIM:600121]
AGRN AGRIN_HUMAN O00468 VAR_048966 1666 V -> I Polymorphism
AGRP AGRP_HUMAN O00253 VAR_015385 67 A -> T Polymorphism
AGT ANGT_HUMAN P01019 VAR_022933 43 L -> F Polymorphism
AGT ANGT_HUMAN P01019 VAR_029166 98 E -> K Polymorphism
AGT ANGT_HUMAN P01019 VAR_051939 114 G -> C Polymorphism
AGT ANGT_HUMAN P01019 VAR_035431 137 T -> M Polymorphism
AGT ANGT_HUMAN P01019 VAR_007093 207 T -> M Polymorphism
AGT ANGT_HUMAN P01019 VAR_007094 242 T -> I Unclassified
AGT ANGT_HUMAN P01019 VAR_007095 244 L -> R Polymorphism
AGT ANGT_HUMAN P01019 VAR_029167 268 M -> I Polymorphism
AGT ANGT_HUMAN P01019 VAR_007096 268 M -> T Polymorphism
AGT ANGT_HUMAN P01019 VAR_007097 281 Y -> C Unclassified
AGT ANGT_HUMAN P01019 VAR_035432 335 P -> S Polymorphism
AGT ANGT_HUMAN P01019 VAR_035433 375 R -> Q Disease Renal tubular dysgenesis (RTD) [MIM:267430]
AGT ANGT_HUMAN P01019 VAR_014573 392 L -> M Polymorphism
AGTPBP1 CBPC1_HUMAN Q9UPW5 VAR_036884 423 E -> K Disease A colorectal cancer sample
AGTR1 AGTR1_HUMAN P30556 VAR_011846 48 L -> V Polymorphism
AGTR1 AGTR1_HUMAN P30556 VAR_029206 163 A -> T Polymorphism
AGTR1 AGTR1_HUMAN P30556 VAR_029207 244 A -> S Polymorphism
AGTR1 AGTR1_HUMAN P30556 VAR_035086 282 T -> M Disease Renal tubular dysgenesis (RTD) [MIM:267430]
AGTR1 AGTR1_HUMAN P30556 VAR_011847 289 C -> W Polymorphism
AGTR1 AGTR1_HUMAN P30556 VAR_011848 336 T -> P Polymorphism
AGTR2 AGTR2_HUMAN P50052 VAR_049374 231 Y -> H Polymorphism
AGTR2 AGTR2_HUMAN P50052 VAR_011849 248 R -> K Polymorphism
AGTR2 AGTR2_HUMAN P50052 VAR_011850 268 C -> W Polymorphism
AGTRAP ATRAP_HUMAN Q6RW13 VAR_023075 143 A -> V Polymorphism
AGXT SPYA_HUMAN P21549 VAR_000587 11 P -> L Polymorphism
AGXT SPYA_HUMAN P21549 VAR_048236 22 N -> S Polymorphism
AGXT SPYA_HUMAN P21549 VAR_000588 41 G -> R Disease Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT SPYA_HUMAN P21549 VAR_010969 41 G -> V Disease Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT SPYA_HUMAN P21549 VAR_008878 82 G -> E Disease Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT SPYA_HUMAN P21549 VAR_010971 116 G -> R Disease Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT SPYA_HUMAN P21549 VAR_000589 152 F -> I Disease Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT SPYA_HUMAN P21549 VAR_010972 156 G -> R Disease Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT SPYA_HUMAN P21549 VAR_000590 170 G -> R Disease Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT SPYA_HUMAN P21549 VAR_010973 183 D -> N Disease Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT SPYA_HUMAN P21549 VAR_000591 187 S -> F Disease Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT SPYA_HUMAN P21549 VAR_000592 205 S -> P Disease Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT SPYA_HUMAN P21549 VAR_008879 233 R -> C Disease Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT SPYA_HUMAN P21549 VAR_008880 233 R -> H Disease Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT SPYA_HUMAN P21549 VAR_008881 244 I -> T Disease Hyperoxaluria primary type 1 (HP1) [MIM:259900]
AGXT SPYA_HUMAN P21549 VAR_048237 295 A -> T Polymorphism
AGXT SPYA_HUMAN P21549 VAR_000593 340 I -> M Polymorphism
AGXT2 AGT2_HUMAN Q9BYV1 VAR_023483 102 S -> N Polymorphism
AGXT2 AGT2_HUMAN Q9BYV1 VAR_048231 132 G -> R Polymorphism
AGXT2 AGT2_HUMAN Q9BYV1 VAR_022140 140 V -> I Polymorphism
AGXT2 AGT2_HUMAN Q9BYV1 VAR_022141 212 T -> I Polymorphism
AGXT2 AGT2_HUMAN Q9BYV1 VAR_048232 492 P -> R Polymorphism
AGXT2 AGT2_HUMAN Q9BYV1 VAR_029513 498 V -> L Polymorphism
AGXT2L1 AT2L1_HUMAN Q8TBG4 VAR_032342 185 S -> P Polymorphism
AGXT2L2 AT2L2_HUMAN Q8IUZ5 VAR_048233 126 H -> R Polymorphism
AHCTF1 ELYS_HUMAN Q8WYP5 VAR_027037 874 N -> S Polymorphism
AHCTF1 ELYS_HUMAN Q8WYP5 VAR_027038 2185 L -> V Polymorphism
AHCY SAHH_HUMAN P23526 VAR_052286 38 R -> W Polymorphism
AHCY SAHH_HUMAN P23526 VAR_058588 49 R -> C Disease Hypermethioninemia [MIM:180960]
AHCY SAHH_HUMAN P23526 VAR_058589 86 D -> G Disease Hypermethioninemia [MIM:180960]
AHCY SAHH_HUMAN P23526 VAR_006934 86 D -> N Polymorphism
AHCY SAHH_HUMAN P23526 VAR_058590 89 A -> V Disease Hypermethioninemia [MIM:180960]
AHCY SAHH_HUMAN P23526 VAR_058591 143 Y -> C Disease Hypermethioninemia [MIM:180960]
AHDC1 AHDC1_HUMAN Q5TGY3 VAR_037765 935 A -> T Polymorphism
AHI1 AHI1_HUMAN Q8N157 VAR_037892 49 I -> N Polymorphism
AHI1 AHI1_HUMAN Q8N157 VAR_023391 443 V -> D Disease Joubert syndrome type 3 (JBTS3) [MIM:608629]
AHI1 AHI1_HUMAN Q8N157 VAR_037893 548 R -> H Polymorphism
AHI1 AHI1_HUMAN Q8N157 VAR_037894 723 R -> Q Disease Joubert syndrome type 3 (JBTS3) [MIM:608629]
AHI1 AHI1_HUMAN Q8N157 VAR_037895 761 S -> L Polymorphism
AHI1 AHI1_HUMAN Q8N157 VAR_037896 830 R -> W Polymorphism
AHI1 AHI1_HUMAN Q8N157 VAR_037897 856 T -> S Polymorphism
AHI1 AHI1_HUMAN Q8N157 VAR_037898 933 Y -> C Polymorphism
AHI1 AHI1_HUMAN Q8N157 VAR_037899 1018 Q -> P Polymorphism
AHI1 AHI1_HUMAN Q8N157 VAR_037900 1123 S -> F Polymorphism
AHI1 AHI1_HUMAN Q8N157 VAR_037901 1140 P -> S Polymorphism
AHNAK AHNK_HUMAN Q09666 VAR_039058 962 G -> V Polymorphism
AHNAK AHNK_HUMAN Q09666 VAR_039059 2114 A -> T Polymorphism
AHNAK AHNK_HUMAN Q09666 VAR_039060 2439 P -> L Polymorphism
AHNAK AHNK_HUMAN Q09666 VAR_039061 3003 Q -> K Polymorphism
AHNAK AHNK_HUMAN Q09666 VAR_039062 3190 V -> I Polymorphism
AHNAK AHNK_HUMAN Q09666 VAR_039063 3724 S -> P Polymorphism
AHNAK AHNK_HUMAN Q09666 VAR_039064 4561 G -> D Polymorphism
AHNAK AHNK_HUMAN Q09666 VAR_039065 4611 M -> V Polymorphism
AHNAK AHNK_HUMAN Q09666 VAR_039066 4613 I -> V Polymorphism
AHNAK AHNK_HUMAN Q09666 VAR_039067 4631 D -> G Polymorphism
AHNAK AHNK_HUMAN Q09666 VAR_039068 5415 T -> A Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050635 525 T -> A Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_039069 1266 V -> M Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_039070 1470 L -> V Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059560 1856 E -> D Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050636 2107 M -> V Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_039071 2115 S -> R Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059561 2146 L -> V Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050637 2410 K -> R Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_039072 2429 D -> E Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_039073 2430 L -> V Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059562 2503 E -> A Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_039074 2616 V -> A Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059563 2862 R -> S Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059564 3176 D -> E Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059565 3177 L -> V Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059566 3336 P -> L Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059567 3363 V -> A Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059568 3793 D -> N Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050638 3796 V -> L Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059569 3869 M -> V Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059570 3902 K -> N Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050639 3961 M -> V Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050640 4071 I -> M Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059571 4085 A -> V Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050641 4138 F -> L Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059572 4198 D -> N Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050642 4232 K -> N Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050643 4278 V -> A Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059573 4326 L -> P Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_059574 4478 P -> L Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050644 4536 M -> L Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050645 4664 T -> A Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_039075 5028 L -> M Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050646 5072 G -> R Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050647 5184 Y -> D Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050648 5397 P -> A Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_039076 5564 G -> R Polymorphism
AHNAK2 AHNK2_HUMAN Q8IVF2 VAR_050649 5732 T -> M Polymorphism
AHR AHR_HUMAN P35869 VAR_015516 517 P -> S Polymorphism
AHR AHR_HUMAN P35869 VAR_009281 554 R -> K Polymorphism
AHR AHR_HUMAN P35869 VAR_009282 570 V -> I Polymorphism
AHR AHR_HUMAN P35869 VAR_015517 786 M -> V Polymorphism
AHRR AHRR_HUMAN A9YTQ3 VAR_043308 114 L -> P Polymorphism
AHRR AHRR_HUMAN A9YTQ3 VAR_043309 189 A -> P Polymorphism
AHRR AHRR_HUMAN A9YTQ3 VAR_043310 373 G -> V Polymorphism
AHRR AHRR_HUMAN A9YTQ3 VAR_043311 627 D -> H Polymorphism
AHSA2 AHSA2_HUMAN Q719I0 VAR_038256 248 M -> T Disease A breast cancer sample
AHSG FETUA_HUMAN P02765 VAR_055802 142 V -> L Polymorphism
AHSG FETUA_HUMAN P02765 VAR_002388 248 T -> M Polymorphism
AHSG FETUA_HUMAN P02765 VAR_002389 256 T -> S Polymorphism
AHSG FETUA_HUMAN P02765 VAR_012474 276 D -> N Polymorphism
AHSG FETUA_HUMAN P02765 VAR_012475 317 R -> C Polymorphism
AHSP AHSP_HUMAN Q9NZD4 VAR_050650 100 P -> T Polymorphism
AICDA AICDA_HUMAN Q9GZX7 VAR_013774 24 R -> W Disease Autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]
AICDA AICDA_HUMAN Q9GZX7 VAR_014091 25 R -> C Polymorphism
AICDA AICDA_HUMAN Q9GZX7 VAR_013775 80 W -> R Disease Autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]
AICDA AICDA_HUMAN Q9GZX7 VAR_013776 106 L -> P Disease Autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]
AICDA AICDA_HUMAN Q9GZX7 VAR_013777 139 M -> V Disease Autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]
AICDA AICDA_HUMAN Q9GZX7 VAR_013778 151 F -> S Disease Autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2) [MIM:605258]
AIF1 AIF1_HUMAN P55008 VAR_048665 14 G -> R Polymorphism
AIFM2 AIFM2_HUMAN Q9BRQ8 VAR_050651 135 M -> T Polymorphism
AIFM2 AIFM2_HUMAN Q9BRQ8 VAR_050652 288 D -> N Polymorphism
AIG1 AIG1_HUMAN Q9NVV5 VAR_057502 151 Q -> E Polymorphism
AIM1 AIM1_HUMAN Q9Y4K1 VAR_055687 267 G -> D Polymorphism
AIM1 AIM1_HUMAN Q9Y4K1 VAR_055688 293 Q -> P Polymorphism
AIM1 AIM1_HUMAN Q9Y4K1 VAR_055689 491 C -> R Polymorphism
AIM1 AIM1_HUMAN Q9Y4K1 VAR_055690 1096 L -> V Polymorphism
AIM1 AIM1_HUMAN Q9Y4K1 VAR_055691 1196 E -> A Polymorphism
AIM1 AIM1_HUMAN Q9Y4K1 VAR_055692 1395 C -> Y Polymorphism
AIM1 AIM1_HUMAN Q9Y4K1 VAR_055693 1445 T -> S Polymorphism
AIM1L AIM1L_HUMAN Q8N1P7 VAR_048835 249 S -> N Polymorphism
AIM2 AIM2_HUMAN O14862 VAR_022022 32 E -> K Polymorphism
AIM2 AIM2_HUMAN O14862 VAR_043379 304 C -> Y Polymorphism
AIMP1 AIMP1_HUMAN Q12904 VAR_025212 79 P -> A Polymorphism
AIMP1 AIMP1_HUMAN Q12904 VAR_029156 104 T -> A Polymorphism
AIMP1 AIMP1_HUMAN Q12904 VAR_050124 117 T -> A Polymorphism
AIMP2 AIMP2_HUMAN Q13155 VAR_058392 92 I -> V Disease A lung cancer cell line
AIMP2 AIMP2_HUMAN Q13155 VAR_025521 129 A -> G Polymorphism
AIMP2 AIMP2_HUMAN Q13155 VAR_050125 166 L -> I Polymorphism
AIMP2 AIMP2_HUMAN Q13155 VAR_058394 209 G -> S Disease A lung cancer cell line
AIP AIP_HUMAN O00170 VAR_043908 16 R -> H Polymorphism
AIP AIP_HUMAN O00170 VAR_043909 228 Q -> K Polymorphism
AIP AIP_HUMAN O00170 VAR_043910 241 K -> E Unclassified
AIP AIP_HUMAN O00170 VAR_043912 271 R -> W Unclassified
AIP AIP_HUMAN O00170 VAR_043913 304 R -> Q Unclassified
AIPL1 AIPL1_HUMAN Q9NZN9 VAR_050626 33 V -> A Polymorphism
AIPL1 AIPL1_HUMAN Q9NZN9 VAR_010140 90 D -> H Polymorphism
AIPL1 AIPL1_HUMAN Q9NZN9 VAR_050627 134 Y -> F Polymorphism
AIPL1 AIPL1_HUMAN Q9NZN9 VAR_010139 239 C -> R Disease Leber congenital amaurosis type 4 (LCA4) [MIM:604393]
AIRE AIRE_HUMAN O43918 VAR_026480 15 R -> C Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_013713 15 R -> L Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_013714 16 T -> M Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_026481 21 A -> V Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_005004 28 L -> P Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_013715 29 L -> P Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_026483 77 F -> S Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_013716 78 W -> R Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_013717 80 V -> L Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_005005 83 K -> E Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_013718 85 Y -> C Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_013719 90 Y -> C Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_013720 93 L -> R Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_014422 228 G -> W Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_026484 252 P -> L Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_005006 278 S -> R Polymorphism
AIRE AIRE_HUMAN O43918 VAR_013721 301 V -> M Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_013722 305 G -> S Polymorphism
AIRE AIRE_HUMAN O43918 VAR_013723 311 C -> Y Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_026485 326 P -> L Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_013724 326 P -> Q Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AIRE AIRE_HUMAN O43918 VAR_026486 539 P -> L Disease Autoimmune poly-endocrinopathy candidiasis ectodermal dystrophy (APECED) [MIM:240300]
AJAP1 AJAP1_HUMAN Q9UKB5 VAR_031821 263 G -> R Polymorphism
AK1 KAD1_HUMAN P00568 VAR_055337 40 G -> R Unclassified
AK1 KAD1_HUMAN P00568 VAR_055338 64 G -> R Unclassified
AK1 KAD1_HUMAN P00568 VAR_034046 123 E -> Q Polymorphism
AK1 KAD1_HUMAN P00568 VAR_004021 128 R -> W Unclassified
AK1 KAD1_HUMAN P00568 VAR_055340 164 Y -> C Unclassified
AK2 KAD2_HUMAN P54819 VAR_054630 103 R -> W Disease Reticular dysgenesis (RDYS) [MIM:267500]
AK2 KAD2_HUMAN P54819 VAR_054631 165 D -> G Disease Reticular dysgenesis (RDYS) [MIM:267500]
AK2 KAD2_HUMAN P54819 VAR_050032 209 A -> T Polymorphism
AK5 KAD5_HUMAN Q9Y6K8 VAR_059435 465 R -> Q Polymorphism
AK7 KAD7_HUMAN Q96M32 VAR_017059 102 R -> Q Polymorphism
AK7 KAD7_HUMAN Q96M32 VAR_057950 389 K -> N Polymorphism
AKAP1 AKAP1_HUMAN Q92667 VAR_049676 18 A -> V Polymorphism
AKAP1 AKAP1_HUMAN Q92667 VAR_024512 60 V -> M Polymorphism
AKAP1 AKAP1_HUMAN Q92667 VAR_049677 102 C -> Y Polymorphism
AKAP1 AKAP1_HUMAN Q92667 VAR_049678 124 R -> C Polymorphism
AKAP10 AKA10_HUMAN O43572 VAR_024607 249 R -> H Polymorphism
AKAP10 AKA10_HUMAN O43572 VAR_024608 646 I -> V Polymorphism
AKAP11 AKA11_HUMAN Q9UKA4 VAR_020131 721 S -> C Polymorphism
AKAP11 AKA11_HUMAN Q9UKA4 VAR_048207 1070 H -> R Polymorphism
AKAP11 AKA11_HUMAN Q9UKA4 VAR_048208 1410 L -> F Polymorphism
AKAP12 AKA12_HUMAN Q02952 VAR_035115 117 E -> K Polymorphism
AKAP12 AKA12_HUMAN Q02952 VAR_035116 216 K -> Q Polymorphism
AKAP12 AKA12_HUMAN Q02952 VAR_035780 240 E -> K Disease A colorectal cancer sample
AKAP12 AKA12_HUMAN Q02952 VAR_035117 920 E -> G Polymorphism
AKAP12 AKA12_HUMAN Q02952 VAR_056731 987 A -> S Polymorphism
AKAP12 AKA12_HUMAN Q02952 VAR_035118 1096 V -> I Polymorphism
AKAP12 AKA12_HUMAN Q02952 VAR_035119 1296 R -> L Polymorphism
AKAP12 AKA12_HUMAN Q02952 VAR_035120 1355 E -> K Polymorphism
AKAP12 AKA12_HUMAN Q02952 VAR_035121 1600 E -> D Polymorphism
AKAP12 AKA12_HUMAN Q02952 VAR_035122 1689 E -> D Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_030925 452 M -> T Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_030926 494 W -> R Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_051986 526 K -> Q Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_030927 574 R -> C Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_030928 624 G -> V Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_030929 689 E -> K Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_030930 845 V -> A Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_030931 897 V -> M Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_030932 1062 P -> A Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_030933 1086 D -> N Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_030934 1216 M -> T Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_051987 1525 S -> G Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_030935 2457 G -> S Polymorphism
AKAP13 AKP13_HUMAN Q12802 VAR_030936 2801 A -> T Polymorphism
AKAP2 AKAP2_HUMAN Q9Y2D5 VAR_024248 561 L -> S Polymorphism
AKAP3 AKAP3_HUMAN O75969 VAR_055488 118 G -> E Polymorphism
AKAP3 AKAP3_HUMAN O75969 VAR_055489 500 I -> T Polymorphism
AKAP3 AKAP3_HUMAN O75969 VAR_055490 661 I -> T Polymorphism
AKAP3 AKAP3_HUMAN O75969 VAR_055491 700 S -> F Polymorphism
AKAP3 AKAP3_HUMAN O75969 VAR_059112 700 S -> P Polymorphism
AKAP3 AKAP3_HUMAN O75969 VAR_055492 725 S -> L Polymorphism
AKAP3 AKAP3_HUMAN O75969 VAR_036428 831 R -> C Disease A colorectal cancer sample
AKAP4 AKAP4_HUMAN Q5JQC9 VAR_048206 233 H -> R Polymorphism
AKAP4 AKAP4_HUMAN Q5JQC9 VAR_027266 673 A -> G Polymorphism
AKAP5 AKAP5_HUMAN P24588 VAR_056732 100 P -> L Polymorphism
AKAP5 AKAP5_HUMAN P24588 VAR_056733 314 E -> K Polymorphism
AKAP6 AKAP6_HUMAN Q13023 VAR_028171 337 A -> V Polymorphism
AKAP6 AKAP6_HUMAN Q13023 VAR_028172 408 N -> S Polymorphism
AKAP6 AKAP6_HUMAN Q13023 VAR_050653 558 N -> D Polymorphism
AKAP6 AKAP6_HUMAN Q13023 VAR_050654 892 E -> K Polymorphism
AKAP6 AKAP6_HUMAN Q13023 VAR_035781 910 K -> M Disease A breast cancer sample
AKAP6 AKAP6_HUMAN Q13023 VAR_035782 1192 M -> I Disease A breast cancer sample
AKAP6 AKAP6_HUMAN Q13023 VAR_028173 1492 A -> V Polymorphism
AKAP6 AKAP6_HUMAN Q13023 VAR_050655 1516 T -> A Polymorphism
AKAP6 AKAP6_HUMAN Q13023 VAR_050656 1522 V -> I Polymorphism
AKAP6 AKAP6_HUMAN Q13023 VAR_035783 1702 E -> Q Disease A breast cancer sample
AKAP6 AKAP6_HUMAN Q13023 VAR_035784 1839 P -> T Disease A colorectal cancer sample
AKAP6 AKAP6_HUMAN Q13023 VAR_028174 2035 N -> D Polymorphism
AKAP6 AKAP6_HUMAN Q13023 VAR_028175 2171 F -> Y Polymorphism
AKAP6 AKAP6_HUMAN Q13023 VAR_028176 2209 D -> H Polymorphism
AKAP6 AKAP6_HUMAN Q13023 VAR_050657 2267 E -> D Polymorphism
AKAP7 AKA7G_HUMAN Q9P0M2 VAR_024246 4 E -> K Polymorphism
AKAP7 AKA7G_HUMAN Q9P0M2 VAR_024247 193 S -> N Polymorphism
AKAP8 AKAP8_HUMAN O43823 VAR_036534 664 Q -> H Disease A breast cancer sample
AKAP9 AKAP9_HUMAN Q99996 VAR_024249 475 M -> I Polymorphism
AKAP9 AKAP9_HUMAN Q99996 VAR_043489 1582 S -> L Disease Long QT syndrome type 11 (LQT11) [MIM:611820]
AKAP9 AKAP9_HUMAN Q99996 VAR_035785 2421 M -> I Disease A colorectal cancer sample
AKAP9 AKAP9_HUMAN Q99996 VAR_043490 2496 K -> R Polymorphism
AKAP9 AKAP9_HUMAN Q99996 VAR_030162 2804 N -> S Polymorphism
AKAP9 AKAP9_HUMAN Q99996 VAR_030163 2983 P -> S Polymorphism
AKAP9 AKAP9_HUMAN Q99996 VAR_035786 3301 E -> Q Disease A breast cancer sample
AKAP9 AKAP9_HUMAN Q99996 VAR_043491 3448 Q -> R Polymorphism
AKAP9 AKAP9_HUMAN Q99996 VAR_043492 3618 M -> V Polymorphism
AKNA AKNA_HUMAN Q7Z591 VAR_032586 624 P -> L Polymorphism
AKNA AKNA_HUMAN Q7Z591 VAR_032587 1097 Q -> R Polymorphism
AKNA AKNA_HUMAN Q7Z591 VAR_032588 1119 R -> Q Polymorphism
AKNA AKNA_HUMAN Q7Z591 VAR_032589 1303 S -> P Polymorphism
AKNA AKNA_HUMAN Q7Z591 VAR_032590 1327 Y -> C Polymorphism
AKR1A1 AK1A1_HUMAN P14550 VAR_048212 52 N -> S Polymorphism
AKR1A1 AK1A1_HUMAN P14550 VAR_058909 55 E -> D Polymorphism
AKR1B1 ALDR_HUMAN P15121 VAR_014743 15 I -> F Polymorphism
AKR1B1 ALDR_HUMAN P15121 VAR_014744 42 H -> L Polymorphism
AKR1B1 ALDR_HUMAN P15121 VAR_014745 73 L -> V Polymorphism
AKR1B1 ALDR_HUMAN P15121 VAR_048213 90 K -> E Polymorphism
AKR1B1 ALDR_HUMAN P15121 VAR_014746 204 G -> S Polymorphism
AKR1B1 ALDR_HUMAN P15121 VAR_014747 288 T -> I Polymorphism
AKR1B10 AK1BA_HUMAN O60218 VAR_020077 87 P -> S Polymorphism
AKR1B10 AK1BA_HUMAN O60218 VAR_020078 286 M -> T Polymorphism
AKR1B10 AK1BA_HUMAN O60218 VAR_013287 313 D -> N Polymorphism
AKR1C1 AK1C1_HUMAN Q04828 VAR_048214 170 R -> H Polymorphism
AKR1C1 AK1C1_HUMAN Q04828 VAR_048215 172 Q -> L Polymorphism
AKR1C2 AK1C2_HUMAN P52895 VAR_048216 46 F -> Y Polymorphism
AKR1C2 AK1C2_HUMAN P52895 VAR_014748 172 L -> Q Polymorphism
AKR1C3 AK1C3_HUMAN P42330 VAR_013288 5 Q -> H Polymorphism
AKR1C3 AK1C3_HUMAN P42330 VAR_032767 66 R -> Q Polymorphism
AKR1C3 AK1C3_HUMAN P42330 VAR_032768 170 R -> C Polymorphism
AKR1C3 AK1C3_HUMAN P42330 VAR_013289 175 M -> I Polymorphism
AKR1C3 AK1C3_HUMAN P42330 VAR_032769 180 P -> S Polymorphism
AKR1C4 AK1C4_HUMAN P17516 VAR_028240 135 G -> E Polymorphism
AKR1C4 AK1C4_HUMAN P17516 VAR_013290 145 S -> C Polymorphism
AKR1C4 AK1C4_HUMAN P17516 VAR_028241 170 C -> Y Polymorphism
AKR1C4 AK1C4_HUMAN P17516 VAR_028242 250 R -> Q Polymorphism
AKR1C4 AK1C4_HUMAN P17516 VAR_013291 311 L -> V Polymorphism
AKR1CL1 AKCL1_HUMAN Q5T2L2 VAR_032355 50 R -> H Polymorphism
AKR1CL2 AKCL2_HUMAN Q96JD6 VAR_032356 52 C -> G Polymorphism
AKR1CL2 AKCL2_HUMAN Q96JD6 VAR_032357 86 K -> R Polymorphism
AKR1D1 AK1D1_HUMAN P51857 VAR_033007 106 L -> F Disease Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]
AKR1D1 AK1D1_HUMAN P51857 VAR_044430 133 P -> R Disease Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]
AKR1D1 AK1D1_HUMAN P51857 VAR_033008 198 P -> L Disease Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]
AKR1D1 AK1D1_HUMAN P51857 VAR_044431 261 R -> C Disease Congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]
AKR7A2 ARK72_HUMAN O43488 VAR_048209 135 V -> M Polymorphism
AKR7A2 ARK72_HUMAN O43488 VAR_017413 142 A -> T Polymorphism
AKR7A2 ARK72_HUMAN O43488 VAR_017414 157 Q -> H Polymorphism
AKR7A2 ARK72_HUMAN O43488 VAR_060222 180 E -> K Polymorphism
AKR7A2 ARK72_HUMAN O43488 VAR_048210 198 G -> S Polymorphism
AKR7A2 ARK72_HUMAN O43488 VAR_017415 214 C -> Y Polymorphism
AKR7A2 ARK72_HUMAN O43488 VAR_048211 255 S -> N Polymorphism
AKR7A3 ARK73_HUMAN O95154 VAR_017416 138 V -> M Polymorphism
AKR7A3 ARK73_HUMAN O95154 VAR_017417 215 N -> D Polymorphism
AKR7A3 ARK73_HUMAN O95154 VAR_017418 323 T -> A Polymorphism
AKR7L ARK74_HUMAN Q8NHP1 VAR_046190 255 A -> T Polymorphism
AKR7L ARK74_HUMAN Q8NHP1 VAR_046191 322 F -> V Polymorphism
AKT1 AKT1_HUMAN P31749 VAR_055422 17 E -> K Disease Breast cancer (BC) [MIM:114480]
AKT1 AKT1_HUMAN P31749 VAR_055422 17 E -> K Disease Colorectal cancer (CRC) [MIM:114500]
AKT1 AKT1_HUMAN P31749 VAR_055422 17 E -> K Disease Ovarian cancer [MIM:604370]
AKT1 AKT1_HUMAN P31749 VAR_051617 167 V -> A Polymorphism
AKT1S1 AKTS1_HUMAN Q96B36 VAR_028239 47 A -> P Polymorphism
AKT2 AKT2_HUMAN P31751 VAR_040356 188 I -> V Polymorphism
AKT2 AKT2_HUMAN P31751 VAR_040357 208 R -> K Polymorphism
AKT3 AKT3_HUMAN Q9Y243 VAR_040358 171 G -> R Disease A glioblastoma multiforme sample
ALAD HEM2_HUMAN P13716 VAR_020973 12 F -> L Unclassified
ALAD HEM2_HUMAN P13716 VAR_003633 59 K -> N Polymorphism
ALAD HEM2_HUMAN P13716 VAR_003634 133 G -> R Disease Acute hepatic porphyria (AHP) [MIM:125270]
ALAD HEM2_HUMAN P13716 VAR_020974 153 V -> M Disease Acute hepatic porphyria (AHP) [MIM:125270]
ALAD HEM2_HUMAN P13716 VAR_003635 240 R -> W Disease Acute hepatic porphyria (AHP) [MIM:125270]
ALAD HEM2_HUMAN P13716 VAR_003636 274 A -> T Disease Acute hepatic porphyria (AHP) [MIM:125270]
ALAD HEM2_HUMAN P13716 VAR_003637 275 V -> M Disease Acute hepatic porphyria (AHP) [MIM:125270]
ALAS2 HEM0_HUMAN P22557 VAR_018604 159 D -> Y Disease Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 HEM0_HUMAN P22557 VAR_012334 199 Y -> H Disease Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 HEM0_HUMAN P22557 VAR_012335 204 R -> Q Disease Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 HEM0_HUMAN P22557 VAR_000562 388 T -> S Disease Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 HEM0_HUMAN P22557 VAR_000563 411 R -> C Disease Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 HEM0_HUMAN P22557 VAR_012336 448 R -> Q Disease Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 HEM0_HUMAN P22557 VAR_012337 452 R -> C Disease Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 HEM0_HUMAN P22557 VAR_000564 476 I -> N Disease Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALAS2 HEM0_HUMAN P22557 VAR_018605 560 R -> H Disease Anemia sideroblastic X-linked (XLSA) [MIM:300751]
ALB ALBU_HUMAN P02768 VAR_000499 23 R -> C Unclassified
ALB ALBU_HUMAN P02768 VAR_000500 23 R -> H Unclassified
ALB ALBU_HUMAN P02768 VAR_000501 24 R -> L Unclassified
ALB ALBU_HUMAN P02768 VAR_000502 24 R -> P Unclassified
ALB ALBU_HUMAN P02768 VAR_000503 24 R -> Q Unclassified
ALB ALBU_HUMAN P02768 VAR_000504 25 D -> V Unclassified
ALB ALBU_HUMAN P02768 VAR_000505 27 H -> Q Unclassified
ALB ALBU_HUMAN P02768 VAR_000506 27 H -> Y Unclassified
ALB ALBU_HUMAN P02768 VAR_010657 73 F -> Y Polymorphism
ALB ALBU_HUMAN P02768 VAR_000507 84 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_000508 87 D -> N Unclassified
ALB ALBU_HUMAN P02768 VAR_013011 90 L -> P Disease Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]
ALB ALBU_HUMAN P02768 VAR_000509 106 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_014290 121 E -> G Polymorphism
ALB ALBU_HUMAN P02768 VAR_000510 138 R -> G Unclassified
ALB ALBU_HUMAN P02768 VAR_000511 143 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_013012 146 V -> E Unclassified
ALB ALBU_HUMAN P02768 VAR_000512 152 H -> R Unclassified
ALB ALBU_HUMAN P02768 VAR_000513 201 C -> F Unclassified
ALB ALBU_HUMAN P02768 VAR_014291 215 A -> T Polymorphism
ALB ALBU_HUMAN P02768 VAR_014292 215 A -> V Polymorphism
ALB ALBU_HUMAN P02768 VAR_014293 220 Q -> L Polymorphism
ALB ALBU_HUMAN P02768 VAR_000514 242 R -> H Disease Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]
ALB ALBU_HUMAN P02768 VAR_013013 242 R -> P Disease Familial dysalbuminemic hyperthyroxinemia (FDH) [MIM:103600]
ALB ALBU_HUMAN P02768 VAR_000515 249 K -> Q Unclassified
ALB ALBU_HUMAN P02768 VAR_000516 264 K -> E Unclassified
ALB ALBU_HUMAN P02768 VAR_000517 292 Q -> R Unclassified
ALB ALBU_HUMAN P02768 VAR_000518 293 D -> G Unclassified
ALB ALBU_HUMAN P02768 VAR_000519 300 K -> N Unclassified
ALB ALBU_HUMAN P02768 VAR_000520 337 K -> N Unclassified
ALB ALBU_HUMAN P02768 VAR_013014 338 D -> G Unclassified
ALB ALBU_HUMAN P02768 VAR_013015 338 D -> V Unclassified
ALB ALBU_HUMAN P02768 VAR_000521 342 N -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_000522 344 A -> T Unclassified
ALB ALBU_HUMAN P02768 VAR_000523 345 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_000524 357 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_000525 378 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_000526 382 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_013016 383 K -> N Unclassified
ALB ALBU_HUMAN P02768 VAR_000527 389 D -> H Unclassified
ALB ALBU_HUMAN P02768 VAR_000528 389 D -> V Unclassified
ALB ALBU_HUMAN P02768 VAR_000529 396 K -> E Unclassified
ALB ALBU_HUMAN P02768 VAR_000530 399 D -> N Unclassified
ALB ALBU_HUMAN P02768 VAR_000531 400 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_000532 400 E -> Q Unclassified
ALB ALBU_HUMAN P02768 VAR_000533 406 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_014294 420 E -> K Polymorphism
ALB ALBU_HUMAN P02768 VAR_013017 434 R -> C Unclassified
ALB ALBU_HUMAN P02768 VAR_014295 490 K -> E Polymorphism
ALB ALBU_HUMAN P02768 VAR_000534 503 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_000535 518 D -> N Unclassified
ALB ALBU_HUMAN P02768 VAR_000536 525 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_000537 529 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_013018 557 V -> M Unclassified
ALB ALBU_HUMAN P02768 VAR_000538 560 K -> E Unclassified
ALB ALBU_HUMAN P02768 VAR_000539 565 K -> E Unclassified
ALB ALBU_HUMAN P02768 VAR_000541 574 D -> A Unclassified
ALB ALBU_HUMAN P02768 VAR_000540 574 D -> G Unclassified
ALB ALBU_HUMAN P02768 VAR_013019 584 K -> E Unclassified
ALB ALBU_HUMAN P02768 VAR_000542 587 D -> N Unclassified
ALB ALBU_HUMAN P02768 VAR_000543 589 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_000544 594 E -> K Unclassified
ALB ALBU_HUMAN P02768 VAR_000545 597 K -> E Unclassified
ALB ALBU_HUMAN P02768 VAR_000546 598 K -> N Unclassified
ALCAM CD166_HUMAN Q13740 VAR_029514 229 G -> D Polymorphism
ALCAM CD166_HUMAN Q13740 VAR_003907 258 N -> S Polymorphism
ALCAM CD166_HUMAN Q13740 VAR_003908 301 T -> M Polymorphism
ALCAM CD166_HUMAN Q13740 VAR_029515 315 L -> M Polymorphism
ALCAM CD166_HUMAN Q13740 VAR_029516 352 V -> M Polymorphism
ALCAM CD166_HUMAN Q13740 VAR_049856 367 M -> I Polymorphism
ALDH16A1 A16A1_HUMAN Q8IZ83 VAR_037638 110 E -> K Polymorphism
ALDH16A1 A16A1_HUMAN Q8IZ83 VAR_037639 227 V -> L Polymorphism
ALDH18A1 P5CS_HUMAN P54886 VAR_038482 84 R -> Q Disease Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]
ALDH18A1 P5CS_HUMAN P54886 VAR_051792 299 T -> I Polymorphism
ALDH18A1 P5CS_HUMAN P54886 VAR_051793 372 S -> Y Polymorphism
ALDH18A1 P5CS_HUMAN P54886 VAR_058006 784 H -> Y Disease Mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]
ALDH1A1 AL1A1_HUMAN P00352 VAR_048901 121 N -> S Polymorphism
ALDH1A1 AL1A1_HUMAN P00352 VAR_048902 125 G -> R Polymorphism
ALDH1A1 AL1A1_HUMAN P00352 VAR_017778 177 I -> F Polymorphism
ALDH1A2 AL1A2_HUMAN O94788 VAR_025439 50 E -> G Polymorphism
ALDH1A2 AL1A2_HUMAN O94788 VAR_025440 110 A -> V Polymorphism
ALDH1A2 AL1A2_HUMAN O94788 VAR_025441 348 V -> I Polymorphism
ALDH1A2 AL1A2_HUMAN O94788 VAR_025442 436 E -> K Polymorphism
ALDH1A3 AL1A3_HUMAN P47895 VAR_019706 386 M -> V Polymorphism
ALDH1B1 AL1B1_HUMAN P30837 VAR_002257 86 A -> V Polymorphism
ALDH1B1 AL1B1_HUMAN P30837 VAR_002258 107 L -> R Polymorphism
ALDH1B1 AL1B1_HUMAN P30837 VAR_029891 202 T -> I Polymorphism
ALDH1B1 AL1B1_HUMAN P30837 VAR_029892 253 M -> V Polymorphism
ALDH1L1 FTHFD_HUMAN O75891 VAR_052290 254 L -> P Polymorphism
ALDH1L1 FTHFD_HUMAN O75891 VAR_052291 330 V -> F Polymorphism
ALDH1L1 FTHFD_HUMAN O75891 VAR_052292 429 E -> A Polymorphism
ALDH1L1 FTHFD_HUMAN O75891 VAR_052293 436 A -> T Polymorphism
ALDH1L1 FTHFD_HUMAN O75891 VAR_052294 436 A -> V Polymorphism
ALDH1L1 FTHFD_HUMAN O75891 VAR_052295 448 S -> N Polymorphism
ALDH1L1 FTHFD_HUMAN O75891 VAR_052296 481 S -> G Polymorphism
ALDH1L1 FTHFD_HUMAN O75891 VAR_036101 511 A -> V Disease A colorectal cancer sample
ALDH1L1 FTHFD_HUMAN O75891 VAR_052297 793 D -> G Polymorphism
ALDH1L1 FTHFD_HUMAN O75891 VAR_052298 803 E -> K Polymorphism
ALDH1L1 FTHFD_HUMAN O75891 VAR_052299 812 I -> V Polymorphism
ALDH2 ALDH2_HUMAN P05091 VAR_011869 337 E -> V Polymorphism
ALDH2 ALDH2_HUMAN P05091 VAR_011302 496 E -> K Polymorphism
ALDH2 ALDH2_HUMAN P05091 VAR_002248 504 E -> K Polymorphism
ALDH3A1 AL3A1_HUMAN P30838 VAR_018981 134 A -> S Polymorphism
ALDH3A1 AL3A1_HUMAN P30838 VAR_018982 309 G -> E Polymorphism
ALDH3A1 AL3A1_HUMAN P30838 VAR_011303 329 P -> A Polymorphism
ALDH3A2 AL3A2_HUMAN P51648 VAR_017510 45 I -> F Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017511 64 V -> D Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_002249 106 L -> R Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017512 114 P -> L Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017513 121 P -> L Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017514 184 T -> M Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017515 184 T -> R Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017516 185 G -> A Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_002250 214 C -> Y Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_002251 226 C -> W Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017517 228 R -> C Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017518 237 C -> Y Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_002252 245 D -> N Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017519 266 K -> N Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017520 279 Y -> N Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_002254 315 P -> S Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017521 328 M -> I Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_002255 365 S -> L Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017522 386 N -> S Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017523 406 G -> R Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017524 411 H -> Y Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_002256 412 G -> R Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017525 415 S -> N Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017526 419 F -> S Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017527 423 R -> H Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3A2 AL3A2_HUMAN P51648 VAR_017528 447 K -> E Disease Sjoegren-Larsson syndrome (SLS) [MIM:270200]
ALDH3B2 AL3B2_HUMAN P48448 VAR_022058 50 A -> T Polymorphism
ALDH3B2 AL3B2_HUMAN P48448 VAR_058696 52 N -> S Polymorphism
ALDH3B2 AL3B2_HUMAN P48448 VAR_058697 203 R -> H Polymorphism
ALDH3B2 AL3B2_HUMAN P48448 VAR_058698 220 G -> S Polymorphism
ALDH3B2 AL3B2_HUMAN P48448 VAR_058699 276 R -> W Polymorphism
ALDH3B2 AL3B2_HUMAN P48448 VAR_055699 302 S -> R Polymorphism
ALDH3B2 AL3B2_HUMAN P48448 VAR_058700 361 R -> H Polymorphism
ALDH4A1 AL4A1_HUMAN P30038 VAR_002259 16 P -> L Polymorphism
ALDH4A1 AL4A1_HUMAN P30038 VAR_002260 352 S -> L Disease Hyperprolinemia type 2 (HP2) [MIM:239510]
ALDH4A1 AL4A1_HUMAN P30038 VAR_029337 470 V -> I Polymorphism
ALDH4A1 AL4A1_HUMAN P30038 VAR_048903 473 T -> A Polymorphism
ALDH5A1 SSDH_HUMAN P51649 VAR_026227 36 G -> R Unclassified
ALDH5A1 SSDH_HUMAN P51649 VAR_026199 93 C -> F Disease Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 SSDH_HUMAN P51649 VAR_026200 176 G -> R Disease Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 SSDH_HUMAN P51649 VAR_016758 180 H -> Y Polymorphism
ALDH5A1 SSDH_HUMAN P51649 VAR_016759 182 P -> L Polymorphism
ALDH5A1 SSDH_HUMAN P51649 VAR_026201 223 C -> Y Disease Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 SSDH_HUMAN P51649 VAR_026202 233 T -> M Disease Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 SSDH_HUMAN P51649 VAR_026228 237 A -> S Unclassified
ALDH5A1 SSDH_HUMAN P51649 VAR_026203 255 N -> S Disease Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 SSDH_HUMAN P51649 VAR_026204 268 G -> E Disease Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 SSDH_HUMAN P51649 VAR_026205 335 N -> K Disease Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 SSDH_HUMAN P51649 VAR_026206 382 P -> L Disease Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 SSDH_HUMAN P51649 VAR_026207 382 P -> Q Disease Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 SSDH_HUMAN P51649 VAR_026229 406 V -> I Polymorphism
ALDH5A1 SSDH_HUMAN P51649 VAR_026208 409 G -> D Disease Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 SSDH_HUMAN P51649 VAR_026209 487 V -> E Disease Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH5A1 SSDH_HUMAN P51649 VAR_026210 533 G -> R Disease Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
ALDH6A1 MMSA_HUMAN Q02252 VAR_010244 446 G -> R Disease Methylmalonate semialdehyde dehydrogenase deficiency (MMSDH deficiency) [MIM:603178]
ALDH7A1 AL7A1_HUMAN P49419 VAR_031718 171 A -> V Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1 AL7A1_HUMAN P49419 VAR_028202 384 T -> A Polymorphism
ALDH7A1 AL7A1_HUMAN P49419 VAR_031719 399 E -> Q Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
ALDH7A1 AL7A1_HUMAN P49419 VAR_028203 411 K -> Q Polymorphism
ALDH8A1 AL8A1_HUMAN Q9H2A2 VAR_037618 402 F -> S Polymorphism
ALDH9A1 AL9A1_HUMAN P49189 VAR_011304 116 C -> S Polymorphism
ALDOA ALDOA_HUMAN P04075 VAR_048219 82 E -> Q Polymorphism
ALDOA ALDOA_HUMAN P04075 VAR_000550 129 D -> G Disease Aldolase A deficiency (ALDOA deficiency) [MIM:611881]
ALDOA ALDOA_HUMAN P04075 VAR_048220 142 G -> V Polymorphism
ALDOA ALDOA_HUMAN P04075 VAR_044142 207 E -> K Disease Aldolase A deficiency (ALDOA deficiency) [MIM:611881]
ALDOA ALDOA_HUMAN P04075 VAR_044143 339 C -> Y Disease Aldolase A deficiency (ALDOA deficiency) [MIM:611881]
ALDOA ALDOA_HUMAN P04075 VAR_044144 347 G -> S Disease Aldolase A deficiency (ALDOA deficiency) [MIM:611881]
ALDOB ALDOB_HUMAN P05062 VAR_020822 74 I -> T Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB ALDOB_HUMAN P05062 VAR_038429 134 R -> S Polymorphism
ALDOB ALDOB_HUMAN P05062 VAR_000551 135 C -> R Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB ALDOB_HUMAN P05062 VAR_000552 148 W -> R Unclassified
ALDOB ALDOB_HUMAN P05062 VAR_000553 150 A -> P Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB ALDOB_HUMAN P05062 VAR_000554 175 A -> D Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB ALDOB_HUMAN P05062 VAR_058211 178 C -> R Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB ALDOB_HUMAN P05062 VAR_020824 185 P -> R Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB ALDOB_HUMAN P05062 VAR_020825 207 E -> Q Polymorphism
ALDOB ALDOB_HUMAN P05062 VAR_020826 222 V -> F Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB ALDOB_HUMAN P05062 VAR_020827 229 L -> P Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB ALDOB_HUMAN P05062 VAR_000555 257 L -> P Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB ALDOB_HUMAN P05062 VAR_038430 268 I -> N Polymorphism
ALDOB ALDOB_HUMAN P05062 VAR_058212 284 L -> P Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB ALDOB_HUMAN P05062 VAR_020828 304 R -> Q Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB ALDOB_HUMAN P05062 VAR_000556 304 R -> W Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB ALDOB_HUMAN P05062 VAR_000557 335 N -> K Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALDOB ALDOB_HUMAN P05062 VAR_000558 338 A -> V Disease Hereditary fructose intolerance (HFI) [MIM:229600]
ALG1 ALG1_HUMAN Q9BT22 VAR_023364 150 S -> R Disease Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]
ALG1 ALG1_HUMAN Q9BT22 VAR_023365 258 S -> L Disease Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]
ALG1 ALG1_HUMAN Q9BT22 VAR_038425 267 S -> N Polymorphism
ALG1 ALG1_HUMAN Q9BT22 VAR_038426 325 L -> M Polymorphism
ALG1 ALG1_HUMAN Q9BT22 VAR_023366 342 Q -> P Disease Congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]
ALG1 ALG1_HUMAN Q9BT22 VAR_023367 429 D -> E Polymorphism
ALG1 ALG1_HUMAN Q9BT22 VAR_049350 438 R -> W Polymorphism
ALG1 ALG1_HUMAN Q9BT22 VAR_038427 455 Q -> R Polymorphism
ALG10B AG10B_HUMAN Q5I7T1 VAR_048217 84 G -> A Polymorphism
ALG10B AG10B_HUMAN Q5I7T1 VAR_023753 446 I -> V Unclassified
ALG11 ALG11_HUMAN Q2TAA5 VAR_055902 108 N -> S Polymorphism
ALG12 ALG12_HUMAN Q9BV10 VAR_017904 67 T -> M Disease Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
ALG12 ALG12_HUMAN Q9BV10 VAR_038428 101 G -> R Disease Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
ALG12 ALG12_HUMAN Q9BV10 VAR_017905 142 F -> V Disease Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
ALG12 ALG12_HUMAN Q9BV10 VAR_017906 146 R -> Q Disease Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
ALG12 ALG12_HUMAN Q9BV10 VAR_017907 158 L -> P Disease Congenital disorder of glycosylation type 1G (CDG1G) [MIM:607143]
ALG12 ALG12_HUMAN Q9BV10 VAR_024466 393 I -> V Polymorphism
ALG14 ALG14_HUMAN Q96F25 VAR_029635 14 V -> M Polymorphism
ALG1L ALG1L_HUMAN Q6GMV1 VAR_039962 135 D -> N Polymorphism
ALG1L ALG1L_HUMAN Q6GMV1 VAR_039963 159 I -> T Polymorphism
ALG1L ALG1L_HUMAN Q6GMV1 VAR_039964 184 G -> S Polymorphism
ALG2 ALG2_HUMAN Q9H553 VAR_049351 11 S -> P Polymorphism
ALG2 ALG2_HUMAN Q9H553 VAR_049352 367 V -> A Polymorphism
ALG3 ALG3_HUMAN Q92685 VAR_037805 107 I -> V Polymorphism
ALG3 ALG3_HUMAN Q92685 VAR_010306 118 G -> D Disease Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]
ALG3 ALG3_HUMAN Q92685 VAR_037806 171 R -> Q Disease Congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]
ALG6 ALG6_HUMAN Q9Y672 VAR_022511 131 Y -> H Disease Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
ALG6 ALG6_HUMAN Q9Y672 VAR_022512 170 S -> I Disease Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
ALG6 ALG6_HUMAN Q9Y672 VAR_055493 226 K -> N Polymorphism
ALG6 ALG6_HUMAN Q9Y672 VAR_022513 227 G -> E Disease Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
ALG6 ALG6_HUMAN Q9Y672 VAR_013442 304 F -> S Polymorphism
ALG6 ALG6_HUMAN Q9Y672 VAR_022514 308 S -> R Disease Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
ALG6 ALG6_HUMAN Q9Y672 VAR_013443 333 A -> V Disease Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
ALG6 ALG6_HUMAN Q9Y672 VAR_013444 478 S -> P Disease Congenital disorder of glycosylation type 1C (CDG1C) [MIM:603147]
ALG8 ALG8_HUMAN Q9BVK2 VAR_023480 47 T -> P Disease Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]
ALG8 ALG8_HUMAN Q9BVK2 VAR_023481 222 N -> S Polymorphism
ALG8 ALG8_HUMAN Q9BVK2 VAR_023482 275 G -> D Disease Congenital disorder of glycosylation type 1H (CDG1H) [MIM:608104]
ALG8 ALG8_HUMAN Q9BVK2 VAR_031596 439 I -> T Polymorphism
ALG9 ALG9_HUMAN Q9H6U8 VAR_049221 232 A -> P Polymorphism
ALG9 ALG9_HUMAN Q9H6U8 VAR_049222 255 S -> L Polymorphism
ALG9 ALG9_HUMAN Q9H6U8 VAR_023410 287 Y -> C Disease Congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776]
ALG9 ALG9_HUMAN Q9H6U8 VAR_023411 289 V -> I Polymorphism
ALG9 ALG9_HUMAN Q9H6U8 VAR_023412 506 P -> L Polymorphism
ALG9 ALG9_HUMAN Q9H6U8 VAR_023413 523 E -> K Disease Congenital disorder of glycosylation type 1L (CDG1L) [MIM:608776]
ALG9 ALG9_HUMAN Q9H6U8 VAR_049223 528 I -> S Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_041477 90 S -> L Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_041478 163 V -> L Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_041479 296 E -> Q Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_041480 476 V -> A Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_041481 560 L -> F Disease A breast pleomorphic lobular carcinoma sample
ALK ALK_HUMAN Q9UM73 VAR_041482 680 T -> I Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_041483 704 A -> T Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_041484 877 A -> S Disease An ovarian serous carcinoma sample
ALK ALK_HUMAN Q9UM73 VAR_041485 1012 T -> M Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_041486 1121 G -> D Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_041487 1274 A -> T Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_041488 1328 M -> L Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_055987 1376 F -> S Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_041489 1416 K -> N Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_041490 1419 E -> K Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_041491 1429 Q -> R Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_031042 1461 V -> I Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_031043 1491 K -> R Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_031044 1529 D -> E Polymorphism
ALK ALK_HUMAN Q9UM73 VAR_055988 1599 P -> H Polymorphism
ALKBH1 ALKB1_HUMAN Q13686 VAR_048221 135 M -> I Polymorphism
ALKBH1 ALKB1_HUMAN Q13686 VAR_048222 324 M -> L Polymorphism
ALKBH2 ALKB2_HUMAN Q6NS38 VAR_048223 203 R -> H Polymorphism
ALKBH3 ALKB3_HUMAN Q96Q83 VAR_026632 164 R -> C Polymorphism
ALKBH3 ALKB3_HUMAN Q96Q83 VAR_026631 228 D -> E Polymorphism
ALKBH7 ALKB7_HUMAN Q9BT30 VAR_048224 191 R -> Q Polymorphism
ALMS1 ALMS1_HUMAN Q8TCU4 VAR_025433 671 V -> G Polymorphism
ALMS1 ALMS1_HUMAN Q8TCU4 VAR_056734 1412 G -> A Polymorphism
ALMS1 ALMS1_HUMAN Q8TCU4 VAR_059575 1875 I -> V Polymorphism
ALMS1 ALMS1_HUMAN Q8TCU4 VAR_025434 2111 S -> R Polymorphism
ALMS1 ALMS1_HUMAN Q8TCU4 VAR_059576 2284 R -> P Polymorphism
ALMS1 ALMS1_HUMAN Q8TCU4 VAR_025435 2574 S -> N Polymorphism
ALMS1 ALMS1_HUMAN Q8TCU4 VAR_025436 2672 D -> H Polymorphism
ALMS1 ALMS1_HUMAN Q8TCU4 VAR_059577 2856 N -> S Polymorphism
ALMS1 ALMS1_HUMAN Q8TCU4 VAR_059578 3434 K -> E Polymorphism
ALMS1P ALM1L_HUMAN Q96L16 VAR_039260 52 N -> S Polymorphism
ALOX12 LOX12_HUMAN P18054 VAR_030471 259 E -> K Polymorphism
ALOX12 LOX12_HUMAN P18054 VAR_018743 261 Q -> R Polymorphism
ALOX12 LOX12_HUMAN P18054 VAR_004279 298 A -> T Polymorphism
ALOX12 LOX12_HUMAN P18054 VAR_018744 322 N -> S Polymorphism
ALOX12 LOX12_HUMAN P18054 VAR_018745 430 R -> H Polymorphism
ALOX12B LX12B_HUMAN O75342 VAR_050000 94 G -> S Polymorphism
ALOX12B LX12B_HUMAN O75342 VAR_015173 426 L -> P Disease Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
ALOX12B LX12B_HUMAN O75342 VAR_015174 578 H -> Q Disease Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
ALOX15 LOX15_HUMAN P16050 VAR_018746 90 D -> H Polymorphism
ALOX15 LOX15_HUMAN P16050 VAR_035036 102 G -> V Polymorphism
ALOX15 LOX15_HUMAN P16050 VAR_018747 103 N -> K Polymorphism
ALOX15 LOX15_HUMAN P16050 VAR_018748 205 R -> Q Polymorphism
ALOX15 LOX15_HUMAN P16050 VAR_035037 239 V -> M Polymorphism
ALOX15 LOX15_HUMAN P16050 VAR_035038 461 A -> P Polymorphism
ALOX15 LOX15_HUMAN P16050 VAR_035039 560 T -> M Polymorphism
ALOX15B LX15B_HUMAN O15296 VAR_035040 647 I -> V Polymorphism
ALOX15B LX15B_HUMAN O15296 VAR_024524 656 R -> Q Polymorphism
ALOX15B LX15B_HUMAN O15296 VAR_024525 676 I -> V Polymorphism
ALOX5 LOX5_HUMAN P09917 VAR_028018 254 E -> K Polymorphism
ALOXE3 LOXE3_HUMAN Q9BYJ1 VAR_015175 396 R -> S Disease Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
ALOXE3 LOXE3_HUMAN Q9BYJ1 VAR_015176 500 V -> F Disease Non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]
ALPI PPBI_HUMAN P09923 VAR_050524 144 R -> H Polymorphism
ALPI PPBI_HUMAN P09923 VAR_011816 298 H -> L Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_041511 67 Q -> R Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_028982 175 N -> D Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_041512 292 T -> M Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_041513 320 L -> M Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_041514 339 K -> E Disease An ovarian mucinous carcinoma sample
ALPK1 ALPK1_HUMAN Q96QP1 VAR_041515 383 K -> E Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_028983 565 D -> G Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_028984 642 H -> R Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_041516 660 P -> L Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_041517 681 G -> D Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_028985 732 I -> M Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_028986 861 T -> M Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_028987 870 G -> S Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_041518 873 R -> I Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_041519 910 E -> D Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_028988 916 N -> D Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_041520 935 P -> L Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_057741 1008 H -> P Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_041521 1084 R -> Q Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_041522 1117 L -> P Polymorphism
ALPK1 ALPK1_HUMAN Q96QP1 VAR_041523 1160 A -> G Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054914 2 K -> T Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054915 136 R -> S Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054916 719 H -> Q Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054917 810 G -> S Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054918 825 R -> T Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054919 829 K -> N Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054920 884 S -> L Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054921 891 T -> I Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054922 916 N -> K Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_045591 942 E -> K Disease An ovarian undifferentiated carcinoma sample
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054923 977 S -> T Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054924 1057 L -> V Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_045592 1133 T -> I Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054925 1134 K -> N Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054926 1174 H -> P Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_045593 1296 L -> V Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054927 1449 P -> S Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_045594 1476 K -> T Disease A melanoma metastatic sample
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054928 1551 A -> S Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054929 1579 Q -> R Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054930 1729 K -> E Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054931 1730 K -> E Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054932 1767 H -> Y Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_057742 1884 R -> C Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_045595 1969 E -> K Polymorphism
ALPK2 ALPK2_HUMAN Q86TB3 VAR_054933 2157 I -> V Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_041524 336 R -> H Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_041525 338 T -> I Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_028989 414 T -> S Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_041526 433 Q -> E Disease A lung large cell carcinoma sample
ALPK3 ALPK3_HUMAN Q96L96 VAR_028990 579 G -> E Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_041527 602 Q -> R Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_041528 663 G -> D Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_028991 761 T -> M Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_041529 836 R -> L Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_041530 929 E -> D Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_057743 1013 E -> K Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_057744 1137 A -> G Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_028992 1299 L -> P Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_041531 1364 G -> E Disease A metastatic melanoma sample
ALPK3 ALPK3_HUMAN Q96L96 VAR_041532 1412 R -> W Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_041533 1557 A -> D Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_028993 1622 L -> P Polymorphism
ALPK3 ALPK3_HUMAN Q96L96 VAR_057745 1873 A -> V Polymorphism
ALPL PPBT_HUMAN P05186 VAR_025903 17 S -> F Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025903 17 S -> F Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025903 17 S -> F Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013972 28 Y -> C Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013972 28 Y -> C Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013972 28 Y -> C Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006147 33 A -> V Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006147 33 A -> V Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006147 33 A -> V Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011081 40 A -> V Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_011081 40 A -> V Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_011081 40 A -> V Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025904 51 A -> S Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025904 51 A -> S Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025904 51 A -> S Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013973 51 A -> V Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013973 51 A -> V Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013973 51 A -> V Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006148 62 M -> L Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006148 62 M -> L Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006148 62 M -> L Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025905 62 M -> V Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025905 62 M -> V Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025905 62 M -> V Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025906 63 G -> R Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025906 63 G -> R Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025906 63 G -> R Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013974 63 G -> V Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013974 63 G -> V Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013974 63 G -> V Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025907 68 T -> M Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025907 68 T -> M Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025907 68 T -> M Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006149 71 R -> C Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006149 71 R -> C Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006149 71 R -> C Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013975 71 R -> H Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013975 71 R -> H Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013975 71 R -> H Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006150 71 R -> P Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006150 71 R -> P Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006150 71 R -> P Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025908 71 R -> S Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025908 71 R -> S Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025908 71 R -> S Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013976 75 G -> S Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013976 75 G -> S Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013976 75 G -> S Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025909 76 Q -> R Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025909 76 Q -> R Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025909 76 Q -> R Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025910 108 P -> L Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025910 108 P -> L Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025910 108 P -> L Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006151 111 A -> T Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006151 111 A -> T Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006151 111 A -> T Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025911 114 A -> G Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025911 114 A -> G Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025911 114 A -> G Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013977 116 A -> T Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013977 116 A -> T Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013977 116 A -> T Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013978 120 G -> R Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013978 120 G -> R Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013978 120 G -> R Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025912 128 V -> M Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025912 128 V -> M Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025912 128 V -> M Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013979 129 G -> R Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013979 129 G -> R Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013979 129 G -> R Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013146 132 A -> V Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013146 132 A -> V Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013146 132 A -> V Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025913 134 T -> H Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025913 134 T -> H Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025913 134 T -> H Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011082 134 T -> N Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_011082 134 T -> N Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_011082 134 T -> N Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006152 136 R -> H Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006152 136 R -> H Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006152 136 R -> H Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025914 148 T -> I Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025914 148 T -> I Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025914 148 T -> I Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013980 152 R -> H Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013980 152 R -> H Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013980 152 R -> H Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025915 162 G -> S Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025915 162 G -> S Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025915 162 G -> S Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006153 162 G -> V Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006153 162 G -> V Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006153 162 G -> V Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013981 170 N -> D Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013981 170 N -> D Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013981 170 N -> D Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025916 171 H -> R Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025916 171 H -> R Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025916 171 H -> R Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006154 171 H -> Y Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006154 171 H -> Y Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006154 171 H -> Y Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011083 176 A -> T Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_011083 176 A -> T Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_011083 176 A -> T Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006155 177 A -> T Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006155 177 A -> T Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006155 177 A -> T Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006156 179 A -> T Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006156 179 A -> T Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006156 179 A -> T Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013982 181 S -> L Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013982 181 S -> L Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013982 181 S -> L Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013983 184 R -> W Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013983 184 R -> W Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013983 184 R -> W Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025917 189 D -> E Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025917 189 D -> E Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025917 189 D -> E Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006157 191 E -> G Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006157 191 E -> G Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006157 191 E -> G Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006158 191 E -> K Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006158 191 E -> K Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006158 191 E -> K Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006159 201 C -> Y Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006159 201 C -> Y Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006159 201 C -> Y Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006160 207 Q -> P Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006160 207 Q -> P Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006160 207 Q -> P Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013984 211 N -> D Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013984 211 N -> D Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013984 211 N -> D Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025918 212 I -> F Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025918 212 I -> F Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025918 212 I -> F Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025919 220 G -> A Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025919 220 G -> A Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025919 220 G -> A Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013985 220 G -> V Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013985 220 G -> V Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013985 220 G -> V Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025920 223 R -> Q Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025920 223 R -> Q Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025920 223 R -> Q Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013986 223 R -> W Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013986 223 R -> W Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013986 223 R -> W Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011084 224 K -> E Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_011084 224 K -> E Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_011084 224 K -> E Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013987 235 E -> G Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013987 235 E -> G Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013987 235 E -> G Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011085 246 R -> S Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_011085 246 R -> S Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_011085 246 R -> S Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013988 249 G -> V Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013988 249 G -> V Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013988 249 G -> V Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006161 263 Y -> H Polymorphism
ALPL PPBT_HUMAN P05186 VAR_025921 272 R -> H Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025921 272 R -> H Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025921 272 R -> H Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025922 272 R -> L Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025922 272 R -> L Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025922 272 R -> L Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025923 275 L -> P Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025923 275 L -> P Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025923 275 L -> P Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006162 289 L -> F Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006162 289 L -> F Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006162 289 L -> F Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013989 291 E -> K Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013989 291 E -> K Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013989 291 E -> K Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025924 292 P -> T Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025924 292 P -> T Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025924 292 P -> T Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006163 294 D -> A Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006163 294 D -> A Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006163 294 D -> A Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013990 294 D -> Y Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013990 294 D -> Y Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013990 294 D -> Y Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025926 295 M -> T Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025926 295 M -> T Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025926 295 M -> T Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025927 297 Y -> D Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025927 297 Y -> D Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025927 297 Y -> D Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025928 298 E -> K Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025928 298 E -> K Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025928 298 E -> K Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025929 299 L -> P Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025929 299 L -> P Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025929 299 L -> P Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006164 306 D -> V Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006164 306 D -> V Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006164 306 D -> V Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025930 311 E -> K Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025930 311 E -> K Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025930 311 E -> K Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013991 326 G -> R Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013991 326 G -> R Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013991 326 G -> R Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013992 327 F -> G Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013992 327 F -> G Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013992 327 F -> G Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006165 327 F -> L Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006165 327 F -> L Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006165 327 F -> L Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006166 334 G -> D Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006166 334 G -> D Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006166 334 G -> D Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025932 339 G -> R Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025932 339 G -> R Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025932 339 G -> R Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011086 348 A -> T Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_011086 348 A -> T Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_011086 348 A -> T Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025933 354 E -> D Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025933 354 E -> D Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025933 354 E -> D Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006167 378 D -> V Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006167 378 D -> V Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006167 378 D -> V Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011087 381 H -> R Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_011087 381 H -> R Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_011087 381 H -> R Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006168 382 V -> I Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006168 382 V -> I Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006168 382 V -> I Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013993 391 R -> C Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013993 391 R -> C Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013993 391 R -> C Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025934 391 R -> H Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025934 391 R -> H Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025934 391 R -> H Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013994 399 A -> S Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013994 399 A -> S Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013994 399 A -> S Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011088 406 D -> G Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_011088 406 D -> G Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_011088 406 D -> G Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025935 411 T -> A Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025935 411 T -> A Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025935 411 T -> A Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025936 414 L -> M Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025936 414 L -> M Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025936 414 L -> M Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025937 417 N -> S Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025937 417 N -> S Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025937 417 N -> S Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013995 423 V -> A Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013995 423 V -> A Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013995 423 V -> A Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011089 426 G -> C Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_011089 426 G -> C Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_011089 426 G -> C Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025938 426 G -> D Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025938 426 G -> D Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025938 426 G -> D Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006169 436 Y -> H Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006169 436 Y -> H Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006169 436 Y -> H Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013996 445 S -> P Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013996 445 S -> P Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013996 445 S -> P Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013997 450 R -> C Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013997 450 R -> C Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013997 450 R -> C Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011090 450 R -> H Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_011090 450 R -> H Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_011090 450 R -> H Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025939 452 E -> K Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025939 452 E -> K Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025939 452 E -> K Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011091 456 G -> R Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_011091 456 G -> R Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_011091 456 G -> R Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013998 459 V -> M Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013998 459 V -> M Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013998 459 V -> M Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_025940 468 A -> T Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_025940 468 A -> T Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_025940 468 A -> T Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_013999 473 G -> S Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_013999 473 G -> S Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_013999 473 G -> S Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_006170 476 E -> K Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_006170 476 E -> K Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_006170 476 E -> K Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011092 478 N -> I Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_011092 478 N -> I Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_011092 478 N -> I Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011093 489 C -> S Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_011093 489 C -> S Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_011093 489 C -> S Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_014000 490 I -> F Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_014000 490 I -> F Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_014000 490 I -> F Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_014001 491 G -> R Disease Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]
ALPL PPBT_HUMAN P05186 VAR_014001 491 G -> R Disease Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]
ALPL PPBT_HUMAN P05186 VAR_014001 491 G -> R Disease Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
ALPL PPBT_HUMAN P05186 VAR_011094 522 V -> A Polymorphism
ALPP PPB1_HUMAN P05187 VAR_017419 25 P -> L Polymorphism
ALPP PPB1_HUMAN P05187 VAR_050520 89 I -> L Polymorphism
ALPP PPB1_HUMAN P05187 VAR_050521 231 R -> P Polymorphism
ALPP PPB1_HUMAN P05187 VAR_050522 263 R -> H Polymorphism
ALPP PPB1_HUMAN P05187 VAR_050523 451 E -> G Polymorphism
ALPPL2 PPBN_HUMAN P10696 VAR_027552 34 Q -> E Polymorphism
ALPPL2 PPBN_HUMAN P10696 VAR_027553 273 L -> M Polymorphism
ALPPL2 PPBN_HUMAN P10696 VAR_027554 316 L -> R Polymorphism
ALPPL2 PPBN_HUMAN P10696 VAR_027555 527 G -> E Polymorphism
ALS2 ALS2_HUMAN Q96Q42 VAR_036747 94 I -> V Polymorphism
ALS2 ALS2_HUMAN Q96Q42 VAR_015655 102 H -> R Polymorphism
ALS2 ALS2_HUMAN Q96Q42 VAR_036748 159 E -> K Polymorphism
ALS2 ALS2_HUMAN Q96Q42 VAR_015656 368 M -> V Polymorphism
ALS2 ALS2_HUMAN Q96Q42 VAR_036749 1255 S -> F Polymorphism
ALS2 ALS2_HUMAN Q96Q42 VAR_015657 1406 R -> K Polymorphism
ALS2CL AL2CL_HUMAN Q60I27 VAR_037791 45 E -> Q Polymorphism
ALS2CL AL2CL_HUMAN Q60I27 VAR_037792 280 Q -> E Disease A breast cancer sample
ALS2CL AL2CL_HUMAN Q60I27 VAR_037793 576 L -> F Disease A breast cancer sample
ALS2CR11 AL2SA_HUMAN Q53TS8 VAR_035787 123 K -> M Disease A colorectal cancer sample
ALS2CR11 AL2SA_HUMAN Q53TS8 VAR_024769 376 H -> Q Polymorphism
ALS2CR12 AL2SB_HUMAN Q96Q35 VAR_045625 43 V -> L Polymorphism
ALX3 ALX3_HUMAN O95076 VAR_047475 234 P -> A Polymorphism
ALX4 ALX4_HUMAN Q9H161 VAR_010783 35 R -> T Polymorphism
ALX4 ALX4_HUMAN Q9H161 VAR_010784 102 P -> S Polymorphism
ALX4 ALX4_HUMAN Q9H161 VAR_010785 218 R -> Q Disease Parietal foramina 2 (PFM2) [MIM:609597]
ALX4 ALX4_HUMAN Q9H161 VAR_058413 257 R -> T Polymorphism
ALX4 ALX4_HUMAN Q9H161 VAR_010897 272 R -> P Disease Parietal foramina 2 (PFM2) [MIM:609597]
AMAC1L2 AMCL2_HUMAN Q96KT7 VAR_059579 46 G -> D Polymorphism
AMAC1L2 AMCL2_HUMAN Q96KT7 VAR_059580 307 L -> P Polymorphism
AMAC1L3 AMCL3_HUMAN P0C7Q6 VAR_044335 51 A -> T Polymorphism
AMAC1L3 AMCL3_HUMAN P0C7Q6 VAR_044336 251 P -> L Polymorphism
AMAC1L3 AMCL3_HUMAN P0C7Q6 VAR_059581 263 A -> T Polymorphism
AMACR AMACR_HUMAN Q9UHK6 VAR_010660 9 V -> M Polymorphism
AMACR AMACR_HUMAN Q9UHK6 VAR_010661 52 S -> P Disease Alpha-methylacyl-CoA racemase deficiency (AMACRD) [MIM:604489]
AMACR AMACR_HUMAN Q9UHK6 VAR_010661 52 S -> P Disease Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]
AMACR AMACR_HUMAN Q9UHK6 VAR_010665 107 L -> P Disease Congenital bile acid synthesis defect type 4 (CBAS4) [MIM:214950]
AMACR AMACR_HUMAN Q9UHK6 VAR_055616 118 R -> Q Polymorphism
AMACR AMACR_HUMAN Q9UHK6 VAR_010662 175 G -> D Polymorphism
AMACR AMACR_HUMAN Q9UHK6 VAR_010663 201 S -> L Polymorphism
AMACR AMACR_HUMAN Q9UHK6 VAR_055617 238 P -> S Polymorphism
AMACR AMACR_HUMAN Q9UHK6 VAR_055618 239 Q -> H Polymorphism
AMACR AMACR_HUMAN Q9UHK6 VAR_055619 261 M -> I Polymorphism
AMACR AMACR_HUMAN Q9UHK6 VAR_055620 261 M -> T Polymorphism
AMACR AMACR_HUMAN Q9UHK6 VAR_010664 277 K -> E Polymorphism
AMBN AMBN_HUMAN Q9NP70 VAR_014066 11 M -> T Unclassified
AMBN AMBN_HUMAN Q9NP70 VAR_048225 255 A -> V Polymorphism
AMBN AMBN_HUMAN Q9NP70 VAR_014067 354 L -> P Polymorphism
AMBN AMBN_HUMAN Q9NP70 VAR_014069 439 H -> R Unclassified
AMDHD1 HUTI_HUMAN Q96NU7 VAR_031419 3 G -> S Polymorphism
AMDHD1 HUTI_HUMAN Q96NU7 VAR_031420 360 P -> H Polymorphism
AMDHD2 NAGA_HUMAN Q9Y303 VAR_038301 294 D -> N Disease A colorectal cancer sample
AMELX AMELX_HUMAN Q99217 VAR_037581 4 W -> S Disease Amelogenesis imperfecta hypoplastic type 1 (AIH1) [MIM:301200]
AMELX AMELX_HUMAN Q99217 VAR_037582 37 T -> I Disease Amelogenesis imperfecta hypoplastic type 1 (AIH1) [MIM:301200]
AMELX AMELX_HUMAN Q99217 VAR_037583 56 P -> T Disease Amelogenesis imperfecta hypoplastic type 1 (AIH1) [MIM:301200]
AMFR AMFR1_HUMAN P26442 VAR_014809 181 I -> V Polymorphism
AMFR AMFR2_HUMAN Q9UKV5 VAR_035790 605 D -> V Disease A breast cancer sample
AMH MIS_HUMAN P03971 VAR_007483 12 V -> G Disease Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH MIS_HUMAN P03971 VAR_007484 49 I -> S Polymorphism
AMH MIS_HUMAN P03971 VAR_007485 70 L -> P Disease Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH MIS_HUMAN P03971 VAR_007486 101 G -> V Disease Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH MIS_HUMAN P03971 VAR_007487 123 R -> W Disease Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH MIS_HUMAN P03971 VAR_007488 167 Y -> C Disease Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH MIS_HUMAN P03971 VAR_007489 185 Q -> E Polymorphism
AMH MIS_HUMAN P03971 VAR_007490 194 R -> C Disease Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH MIS_HUMAN P03971 VAR_007491 325 Q -> R Polymorphism
AMH MIS_HUMAN P03971 VAR_007492 477 V -> A Disease Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH MIS_HUMAN P03971 VAR_031027 506 H -> Q Disease Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMH MIS_HUMAN P03971 VAR_031028 525 C -> Y Disease Persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]
AMHR2 AMHR2_HUMAN Q16671 VAR_015525 54 R -> C Disease Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 AMHR2_HUMAN Q16671 VAR_015526 142 G -> V Disease Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 AMHR2_HUMAN Q16671 VAR_015527 282 H -> Q Disease Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 AMHR2_HUMAN Q16671 VAR_015528 406 R -> Q Disease Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 AMHR2_HUMAN Q16671 VAR_015529 426 D -> G Disease Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 AMHR2_HUMAN Q16671 VAR_015530 458 V -> A Disease Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 AMHR2_HUMAN Q16671 VAR_015531 491 D -> H Disease Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMHR2 AMHR2_HUMAN Q16671 VAR_015532 504 R -> C Disease Persistent Muellerian duct syndrome type 2 (PMDS2) [MIM:261550]
AMICA1 JAML1_HUMAN Q86YT9 VAR_049974 94 I -> N Polymorphism
AMICA1 JAML1_HUMAN Q86YT9 VAR_049975 193 V -> A Polymorphism
AMICA1 JAML1_HUMAN Q86YT9 VAR_049976 322 I -> M Polymorphism
AMN AMNLS_HUMAN Q9BXJ7 VAR_015733 41 T -> I Disease Recessive hereditary megaloblastic anemia 1 (MGA1) [MIM:261100]
AMOTL1 AMOL1_HUMAN Q8IY63 VAR_033498 847 P -> L Polymorphism
AMOTL2 AMOL2_HUMAN Q9Y2J4 VAR_055497 227 T -> I Polymorphism
AMOTL2 AMOL2_HUMAN Q9Y2J4 VAR_055498 342 A -> P Polymorphism
AMOTL2 AMOL2_HUMAN Q9Y2J4 VAR_055499 415 G -> S Polymorphism
AMOTL2 AMOL2_HUMAN Q9Y2J4 VAR_023535 731 D -> E Polymorphism
AMPD1 AMPD1_HUMAN P23109 VAR_048860 22 E -> K Polymorphism
AMPD1 AMPD1_HUMAN P23109 VAR_013270 48 P -> L Polymorphism
AMPD1 AMPD1_HUMAN P23109 VAR_013271 388 R -> W Disease Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]
AMPD1 AMPD1_HUMAN P23109 VAR_013272 425 R -> H Disease Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]
AMPD1 AMPD1_HUMAN P23109 VAR_035801 633 P -> H Disease A colorectal cancer sample
AMPD3 AMPD3_HUMAN Q01432 VAR_033499 185 R -> W Polymorphism
AMPD3 AMPD3_HUMAN Q01432 VAR_042606 310 N -> K Disease Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]
AMPD3 AMPD3_HUMAN Q01432 VAR_042607 311 V -> L Disease Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]
AMPD3 AMPD3_HUMAN Q01432 VAR_042608 320 A -> V Disease Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]
AMPD3 AMPD3_HUMAN Q01432 VAR_042609 324 M -> T Disease Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]
AMPD3 AMPD3_HUMAN Q01432 VAR_042610 331 R -> C Disease Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]
AMPD3 AMPD3_HUMAN Q01432 VAR_042611 402 R -> C Disease Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]
AMPD3 AMPD3_HUMAN Q01432 VAR_042612 450 W -> R Disease Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]
AMPD3 AMPD3_HUMAN Q01432 VAR_042613 455 Y -> H Polymorphism
AMPD3 AMPD3_HUMAN Q01432 VAR_009881 573 R -> C Disease Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]
AMPD3 AMPD3_HUMAN Q01432 VAR_042614 585 P -> L Disease Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]
AMPD3 AMPD3_HUMAN Q01432 VAR_042615 712 Q -> P Disease Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]
AMPH AMPH_HUMAN P49418 VAR_053004 218 K -> E Polymorphism
AMPH AMPH_HUMAN P49418 VAR_053005 376 M -> I Polymorphism
AMPH AMPH_HUMAN P49418 VAR_053006 496 K -> T Polymorphism
AMT GCST_HUMAN P48728 VAR_007951 42 H -> R Disease Non-ketotic hyperglycinemia (NKH) [MIM: