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: 55.5 of 10-Jun-2008
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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: 19408
Polymorphisms: 21721
Unclassified variants: 2129
Total: 43258
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
A26B1 A26B1_HUMAN Q6S5H4 VAR_019914 30 H -> D Polymorphism
A26B1 A26B1_HUMAN Q6S5H4 VAR_019915 43 M -> V Polymorphism
A26B1 A26B1_HUMAN Q6S5H4 VAR_019916 64 C -> W Polymorphism
A26B1 A26B1_HUMAN Q6S5H4 VAR_019917 68 C -> R Polymorphism
A26B1 A26B1_HUMAN Q6S5H4 VAR_019918 77 T -> K Polymorphism
A26B1 A26B1_HUMAN Q6S5H4 VAR_019919 88 N -> D Polymorphism
A26B1 A26B1_HUMAN Q6S5H4 VAR_019920 286 Q -> E Polymorphism
A26B1 A26B1_HUMAN Q6S5H4 VAR_019921 511 K -> E Polymorphism
A26B1 A26B1_HUMAN Q6S5H4 VAR_019922 535 M -> K Polymorphism
A26B1 A26B1_HUMAN Q6S5H4 VAR_019923 568 A -> V Polymorphism
A26B3 A26B3_HUMAN Q86YR6 VAR_016242 113 S -> G Polymorphism
A26B3 A26B3_HUMAN Q86YR6 VAR_016243 135 V -> I 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
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 (AAA syndrome) [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 (AAA syndrome) [MIM:231550]
AAAS AAAS_HUMAN Q9NRG9 VAR_012806 263 S -> P Disease Achalasia-addisonianism-alacrima syndrome (AAA syndrome) [MIM:231550]
AACS AACS_HUMAN Q86V21 VAR_038303 118 I -> V Polymorphism
AADAC AAAD_HUMAN P22760 VAR_014798 281 I -> V Polymorphism
AADACL2 ADCL2_HUMAN Q6P093 VAR_038140 186 A -> S Polymorphism
AADACL2 ADCL2_HUMAN Q6P093 VAR_038141 343 L -> I 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
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
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
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]
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_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
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_027592 489 Y -> F Polymorphism
ABCA8 ABCA8_HUMAN O94911 VAR_027593 680 C -> G 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_015001 103 F -> L Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_018351 108 E -> K Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_015002 185 G -> V Unclassified
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_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 A -> S Polymorphism
ABCB1 MDR1_HUMAN P08183 VAR_013362 893 A -> 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_035735 471 R -> T Disease A breast cancer sample
ABCB10 ABCBA_HUMAN Q9NRK6 VAR_031435 545 D -> N 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_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 Unclassified
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_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_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