Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_012581 | Disease | p.ALA1598ASP | Cone-rod dystrophy 3 (CORD3) |
Swiss-Prot | VAR_008466 | Disease | p.ALA1794ASP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012496 | Disease | p.ALA60GLU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_067427 | Disease | p.ALA762GLU | Macular degeneration, age-related, 2 (ARMD2) |
Swiss-Prot | VAR_012520 | Disease | p.ALA549PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012582 | Polymorphism | p.ALA1637THR | N/A |
Swiss-Prot | VAR_008405 | Disease | p.ALA192THR | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012497 | Disease | p.ALA60THR | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012539 | Disease | p.ALA854THR | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008433 | Disease | p.ALA1038VAL | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012614 | Polymorphism | p.ALA2216VAL | N/A |
Swiss-Prot | VAR_008411 | Disease | p.ALA407VAL | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008492 | Disease | p.ALA60VAL | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012561 | Disease | p.ARG1097CYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012562 | Disease | p.ARG1108CYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012565 | Disease | p.ARG1129CYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008484 | Disease | p.ARG2106CYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012610 | Disease | p.ARG2107CYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008406 | Disease | p.ARG212CYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012508 | Disease | p.ARG220CYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012519 | Disease | p.ARG537CYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012529 | Disease | p.ARG653CYS | Stargardt disease 1 (STGD1) |
dbSNP | rs61750129 | Polymorphism | p.ARG1300GLN | N/A |
Swiss-Prot | VAR_012569 | Disease | p.ARG1300GLN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012503 | Polymorphism | p.ARG152GLN | N/A |
Swiss-Prot | VAR_012583 | Disease | p.ARG1640GLN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008480 | Disease | p.ARG2030GLN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008417 | Disease | p.ARG572GLN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012523 | Disease | p.ARG602GLN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008428 | Polymorphism | p.ARG943GLN | N/A |
Swiss-Prot | VAR_012609 | Disease | p.ARG2077GLY | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012563 | Disease | p.ARG1108HIS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012574 | Disease | p.ARG1443HIS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008473 | Disease | p.ARG1898HIS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008485 | Disease | p.ARG2107HIS | Stargardt disease 1 (STGD1) |
dbSNP | rs6657239 | Polymorphism | p.ARG212HIS | N/A |
Swiss-Prot | VAR_008399 | Disease | p.ARG24HIS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012564 | Disease | p.ARG1108LEU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008439 | Disease | p.ARG1129LEU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012587 | Disease | p.ARG1705LEU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012612 | Disease | p.ARG2149LEU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012617 | Disease | p.ARG2263LEU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008467 | Disease | p.ARG1820PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008416 | Disease | p.ARG572PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008455 | Disease | p.ARG1517SER | Macular degeneration, age-related, 2 (ARMD2) |
Swiss-Prot | VAR_012557 | Disease | p.ARG1055TRP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008461 | Disease | p.ARG1640TRP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008398 | Disease | p.ARG18TRP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008469 | Disease | p.ARG1843TRP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008495 | Disease | p.ARG2038TRP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008482 | Disease | p.ARG2077TRP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008488 | Disease | p.ARG2139TRP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012514 | Disease | p.ARG333TRP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008418 | Disease | p.ARG602TRP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012545 | Disease | p.ARG943TRP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012595 | Disease | p.ASN1799ASP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012596 | Disease | p.ASN1805ASP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008403 | Disease | p.ASN96ASP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008404 | Disease | p.ASN96HIS | Stargardt disease 1 (STGD1) |
dbSNP | rs1801466 | Polymorphism | p.ASN1868ILE | N/A |
Swiss-Prot | VAR_012516 | Disease | p.ASN380LYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012495 | Disease | p.ASN58LYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012511 | Disease | p.ASN247SER | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008430 | Disease | p.ASN965SER | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008441 | Disease | p.ASP1204ASN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008457 | Disease | p.ASP1532ASN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008491 | Polymorphism | p.ASP2177ASN | N/A |
Swiss-Prot | VAR_008421 | Disease | p.ASP645ASN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008414 | Disease | p.ASP523GLU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008407 | Disease | p.ASP249GLY | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008493 | Polymorphism | p.ASP846HIS | N/A |
Swiss-Prot | VAR_008453 | Disease | p.CYS1488ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012613 | Disease | p.CYS2150ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008402 | Disease | p.CYS75GLY | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012575 | Disease | p.CYS1488PHE | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012509 | Disease | p.CYS230SER | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012576 | Disease | p.CYS1488TYR | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008454 | Disease | p.CYS1490TYR | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_067430 | Disease | p.CYS2137TYR | Macular degeneration, age-related, 2 (ARMD2) |
Swiss-Prot | VAR_008489 | Disease | p.CYS2150TYR | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008400 | Disease | p.CYS54TYR | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012532 | Disease | p.CYS764TYR | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012578 | Disease | p.GLN1513ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008429 | Disease | p.GLN957ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012505 | Disease | p.GLN190HIS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012527 | Disease | p.GLN636HIS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008464 | Disease | p.GLN1703LYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012526 | Disease | p.GLN635LYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012559 | Disease | p.GLU1087ASP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012597 | Polymorphism | p.GLU1817ASP | N/A |
Swiss-Prot | VAR_012555 | Disease | p.GLU1022LYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008432 | Disease | p.GLU1036LYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008436 | Disease | p.GLU1087LYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008438 | Disease | p.GLU1122LYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012571 | Disease | p.GLU1399LYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012599 | Disease | p.GLU1885LYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008483 | Disease | p.GLU2096LYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008487 | Disease | p.GLU2131LYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008413 | Disease | p.GLU471LYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012513 | Disease | p.GLU328VAL | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012606 | Polymorphism | p.GLY2059ALA | N/A |
Swiss-Prot | VAR_008425 | Disease | p.GLY863ALA | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008459 | Disease | p.GLY1578ARG | Macular degeneration, age-related, 2 (ARMD2) |
Swiss-Prot | VAR_012590 | Disease | p.GLY1748ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012604 | Disease | p.GLY1975ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012521 | Disease | p.GLY550ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012524 | Disease | p.GLY607ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012500 | Disease | p.GLY72ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012551 | Disease | p.GLY991ARG | Fundus flavimaculatus (FFM) |
Swiss-Prot | VAR_008450 | Disease | p.GLY1439ASP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012611 | Disease | p.GLY2146ASP | Cone-rod dystrophy 3 (CORD3) |
Swiss-Prot | VAR_008424 | Disease | p.GLY851ASP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012577 | Disease | p.GLY1508CYS | Fundus flavimaculatus (FFM) |
Swiss-Prot | VAR_008431 | Disease | p.GLY978CYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012560 | Disease | p.GLY1091GLU | Fundus flavimaculatus (FFM) |
Swiss-Prot | VAR_008471 | Disease | p.GLY1886GLU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008475 | Disease | p.GLY1961GLU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008401 | Disease | p.GLY65GLU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008422 | Disease | p.GLY818GLU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008477 | Disease | p.GLY1977SER | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012525 | Disease | p.GLY607TRP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008486 | Disease | p.HIS2128ARG | Stargardt disease 1 (STGD1) |
dbSNP | rs3112831 | Polymorphism | p.HIS423ARG | N/A |
Swiss-Prot | VAR_012543 | Polymorphism | p.HIS914ARG | N/A |
Swiss-Prot | VAR_008444 | Disease | p.HIS1406TYR | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008468 | Disease | p.HIS1838TYR | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_067429 | Disease | p.ILE2047ASN | Macular degeneration, age-related, 2 (ARMD2) |
Swiss-Prot | VAR_008458 | Disease | p.ILE1562THR | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008494 | Polymorphism | p.ILE1846THR | N/A |
Swiss-Prot | VAR_012537 | Disease | p.ILE824THR | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012504 | Disease | p.ILE156VAL | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012552 | Disease | p.LEU1014ARG | Stargardt disease 1 (STGD1) |
dbSNP | rs61750126 | Polymorphism | p.LEU1201ARG | N/A |
Swiss-Prot | VAR_008440 | Disease | p.LEU1201ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012603 | Disease | p.LEU1971ARG | Fundus flavimaculatus (FFM) |
Swiss-Prot | VAR_012607 | Disease | p.LEU2060ARG | Cone-rod dystrophy 3 (CORD3) |
Swiss-Prot | VAR_008476 | Disease | p.LEU1970PHE | Macular degeneration, age-related, 2 (ARMD2) |
Swiss-Prot | VAR_008478 | Disease | p.LEU2027PHE | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012493 | Disease | p.LEU11PRO | Fundus flavimaculatus (FFM) |
Swiss-Prot | VAR_012567 | Disease | p.LEU1250PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012570 | Disease | p.LEU1388PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012572 | Disease | p.LEU1430PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012579 | Disease | p.LEU1525PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008460 | Disease | p.LEU1631PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008465 | Disease | p.LEU1729PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012592 | Disease | p.LEU1763PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012602 | Disease | p.LEU1940PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012605 | Disease | p.LEU2035PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012615 | Disease | p.LEU2229PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012510 | Disease | p.LEU244PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008415 | Disease | p.LEU541PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012536 | Disease | p.LEU797PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012530 | Disease | p.LEU686SER | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012616 | Disease | p.LEU2241VAL | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008490 | Disease | p.LYS2160ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012556 | Disease | p.LYS1031GLU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012566 | Polymorphism | p.LYS1148THR | N/A |
Swiss-Prot | VAR_012588 | Disease | p.MET1733THR | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012518 | Disease | p.PHE525CYS | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008419 | Disease | p.PHE608ILE | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012541 | Disease | p.PHE873LEU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008451 | Disease | p.PHE1440SER | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012573 | Disease | p.PHE1440VAL | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012594 | Disease | p.PRO1780ALA | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012512 | Disease | p.PRO309ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012499 | Disease | p.PRO68ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008443 | Disease | p.PRO1380LEU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008452 | Disease | p.PRO1486LEU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012593 | Disease | p.PRO1776LEU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008474 | Polymorphism | p.PRO1948LEU | N/A |
Swiss-Prot | VAR_012498 | Disease | p.PRO68LEU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008442 | Polymorphism | p.PRO1314THR | N/A |
Swiss-Prot | VAR_012506 | Disease | p.SER206ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008412 | Disease | p.SER445ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012533 | Disease | p.SER765ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008463 | Disease | p.SER1696ASN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012534 | Disease | p.SER765ASN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008409 | Disease | p.SER336CYS | Stargardt disease 1 (STGD1) |
dbSNP | rs6666652 | Polymorphism | p.SER2255ILE | N/A |
Swiss-Prot | VAR_014703 | Polymorphism | p.SER752ILE | N/A |
Swiss-Prot | VAR_008434 | Disease | p.SER1071LEU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012502 | Disease | p.SER100PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012558 | Disease | p.SER1063PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012585 | Disease | p.SER1689PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012589 | Disease | p.SER1736PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012549 | Disease | p.SER974PRO | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012553 | Disease | p.THR1019ALA | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008426 | Polymorphism | p.THR901ALA | N/A |
Swiss-Prot | VAR_008437 | Disease | p.THR1112ASN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008408 | Disease | p.THR300ASN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012547 | Disease | p.THR971ASN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012548 | Disease | p.THR972ASN | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012542 | Disease | p.THR897ILE | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012546 | Disease | p.THR959ILE | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012554 | Disease | p.THR1019MET | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012568 | Disease | p.THR1253MET | Fundus flavimaculatus (FFM) |
dbSNP | rs1800549 | Disease | p.THR1428MET | Macular degeneration, age-related, 2 (ARMD2) |
Swiss-Prot | VAR_008456 | Disease | p.THR1526MET | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012580 | Disease | p.THR1537MET | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_035736 | Polymorphism | p.THR224MET | N/A |
Swiss-Prot | VAR_012531 | Disease | p.THR716MET | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008446 | Disease | p.TRP1408ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008423 | Disease | p.TRP821ARG | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_067428 | Disease | p.TRP1724CYS | Macular degeneration, age-related, 2 (ARMD2) |
Swiss-Prot | VAR_012515 | Disease | p.TRP339GLY | Fundus flavimaculatus (FFM) |
Swiss-Prot | VAR_008445 | Disease | p.TRP1408LEU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008462 | Disease | p.TYR1652ASP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008410 | Disease | p.TYR340ASP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012608 | Disease | p.TYR2071PHE | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008435 | Disease | p.VAL1072ALA | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008448 | Disease | p.VAL1429ALA | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012538 | Disease | p.VAL849ALA | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012544 | Disease | p.VAL935ALA | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012550 | Disease | p.VAL989ALA | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012600 | Disease | p.VAL1896ASP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012535 | Disease | p.VAL767ASP | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012598 | Disease | p.VAL1884GLU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012501 | Disease | p.VAL77GLU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008420 | Polymorphism | p.VAL643GLY | N/A |
Swiss-Prot | VAR_008449 | Disease | p.VAL1433ILE | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012586 | Disease | p.VAL1693ILE | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012522 | Polymorphism | p.VAL552ILE | N/A |
Swiss-Prot | VAR_008481 | Disease | p.VAL2050LEU | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_012601 | Polymorphism | p.VAL1921MET | N/A |
Swiss-Prot | VAR_012528 | Disease | p.VAL643MET | Stargardt disease 1 (STGD1) |
Swiss-Prot | VAR_008427 | Disease | p.VAL931MET | Stargardt disease 1 (STGD1) |
OMIM | 601691.0031 | Disease | p.ALA1762ASP | CONE-ROD DYSTROPHY 3||STARGARDT DISEASE 1, INCLUDED |
OMIM | 601691.0003 | Disease | p.ALA1028VAL | STARGARDT DISEASE 1 |
OMIM | 601691.0016 601691.0023 | Disease | p.ALA1038VAL | STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3, INCLUDED |
OMIM | 601691.0020 | Disease | p.ARG212CYS | STARGARDT DISEASE 1 |
OMIM | 601691.0022 | Disease | p.ARG572GLN | STARGARDT DISEASE 1 |
OMIM | 601691.0035 | Disease | p.ARG943GLN | MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1 |
OMIM | 601691.0029 | Disease | p.ARG2030TER | RETINAL DYSTROPHY, EARLY-ONSET SEVERE |
OMIM | 601691.0021 | Disease | p.ARG18TRP | STARGARDT DISEASE 1 |
OMIM | 601691.0006 | Disease | p.ASP2177ASN | MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO |
OMIM | 601691.0012 | Disease | p.GLU1036LYS | STARGARDT DISEASE 1 |
OMIM | 601691.0037 | Disease | p.GLU1122LYS | STARGARDT DISEASE 1 |
OMIM | 601691.0001 | Disease | p.GLY863ALA | STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3, INCLUDED |
OMIM | 601691.0007 | Disease | p.GLY1961GLU | MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO||STARGARDT DISEASE 1, INCLUDED;;||CONE-ROD DYSTROPHY 3, INCLUDED |
OMIM | 601691.0025 | Disease | p.LEU1201ARG | CONE-ROD DYSTROPHY 3 |
OMIM | 601691.0015 | Disease | p.LEU1971ARG | FUNDUS FLAVIMACULATUS |
OMIM | 601691.0014 | Disease | p.LEU1970PHE | FUNDUS FLAVIMACULATUS |
OMIM | 601691.0004 | Disease | p.LEU2027PHE | STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3, INCLUDED |
OMIM | 601691.0033 | Disease | p.LEU1940PRO | FUNDUS FLAVIMACULATUS||STARGARDT DISEASE 1, INCLUDED;;||CONE-ROD DYSTROPHY 3, INCLUDED |
OMIM | 601691.0023 | Disease | p.LEU541PRO | STARGARDT DISEASE 1||CONE-ROD DYSTROPHY 3, INCLUDED |
OMIM | 601691.0034 | Disease | p.PRO1780ALA | STARGARDT DISEASE 1 |
OMIM | 601691.0026 | Disease | p.PRO1380LEU | STARGARDT DISEASE||MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO, INCLUDED |
OMIM | 601691.0036 | Disease | p.TRP821ARG | STARGARDT DISEASE 1 |
OMIM | 601691.0011 | Disease | p.TRP855TER | STARGARDT DISEASE 1 |
OMIM | 601691.0018 | Disease | p.TYR340ASP | STARGARDT DISEASE 1 |
OMIM | 601691.0005 | Disease | p.VAL2050LEU | STARGARDT DISEASE 1 |
OMIM | 601691.0002 | Disease | p.VAL931MET | STARGARDT DISEASE 1 |