UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.93997920_94002690del | CA10576058 | ABCA4 | c.6148-698_6670del c.2524-698_3046del | ClinVar |
| 1 | g.93997920_94002690delinsCTAGGGAGGTGCACA | CA645372243 | ABCA4 | c.6148-698_6670delinsTGTGCACCTCCCTAG c.2524-698_3046delinsTGTGCACCTCCCTAG | |
| 1 | g.94001004G>A | CA418810716 | ABCA4 | c.6384C>T (p.His2128=) c.2760C>T (p.His920=) | ClinVar dbSNP |
| 1 | g.94001004G>C | CA341277431 | ABCA4 | c.6384C>G (p.His2128Gln) c.2760C>G (p.His920Gln) | |
| 1 | g.94001004G>T | CA341277432 | ABCA4 | c.6384C>A (p.His2128Gln) c.2760C>A (p.His920Gln) | |
| 1 | g.94001005T>A | CA341277433 | ABCA4 | c.6383A>T (p.His2128Leu) c.2759A>T (p.His920Leu) | |
| 1 | g.94001005T>C | CA227399 | ABCA4 | c.6383A>G (p.His2128Arg) c.2759A>G (p.His920Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94001005T>G | CA341277434 | ABCA4 | c.6383A>C (p.His2128Pro) c.2759A>C (p.His920Pro) | |
| 1 | g.94001005T= | CA1140725975 | ABCA4 | c.6383A= (p.His2128=) c.2759A= (p.His920=) | |
| 1 | g.94001006G>A | CA341277435 | ABCA4 | c.6382C>T (p.His2128Tyr) c.2758C>T (p.His920Tyr) | |
| 1 | g.94001006G>C | CA341277436 | ABCA4 | c.6382C>G (p.His2128Asp) c.2758C>G (p.His920Asp) | |
| 1 | g.94001006G>T | CA341277437 | ABCA4 | c.6382C>A (p.His2128Asn) c.2758C>A (p.His920Asn) | |
| 1 | g.94001007G>A | CA418810727 | ABCA4 | c.6381C>T (p.Ser2127=) c.2757C>T (p.Ser919=) | |
| 1 | g.94001007G>C | CA418810730 | ABCA4 | c.6381C>G (p.Ser2127=) c.2757C>G (p.Ser919=) | dbSNP gnomAD v4 |
| 1 | g.94001007G= | CA1181397664 | ABCA4 | c.6381C= (p.Ser2127=) c.2757C= (p.Ser919=) | |
| 1 | g.94001007G>T | CA418810728 | ABCA4 | c.6381C>A (p.Ser2127=) c.2757C>A (p.Ser919=) | |
| 1 | g.94001008G>A | CA341277438 | ABCA4 | c.6380C>T (p.Ser2127Phe) c.2756C>T (p.Ser919Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001008G>C | CA341277439 | ABCA4 | c.6380C>G (p.Ser2127Cys) c.2756C>G (p.Ser919Cys) | |
| 1 | g.94001008G= | CA1181397669 | ABCA4 | c.6380C= (p.Ser2127=) c.2756C= (p.Ser919=) | |
| 1 | g.94001008G>T | CA341277440 | ABCA4 | c.6380C>A (p.Ser2127Tyr) c.2756C>A (p.Ser919Tyr) | |
| 1 | g.94001009A>C | CA341277441 | ABCA4 | c.6379T>G (p.Ser2127Ala) c.2755T>G (p.Ser919Ala) | |
| 1 | g.94001009A>G | CA341277442 | ABCA4 | c.6379T>C (p.Ser2127Pro) c.2755T>C (p.Ser919Pro) | ClinVar dbSNP |
| 1 | g.94001009A>T | CA341277443 | ABCA4 | c.6379T>A (p.Ser2127Thr) c.2755T>A (p.Ser919Thr) | |
| 1 | g.94001010T>A | CA418810740 | ABCA4 | c.6378A>T (p.Thr2126=) c.2754A>T (p.Thr918=) | dbSNP |
| 1 | g.94001010T>C | CA418810742 | ABCA4 | c.6378A>G (p.Thr2126=) c.2754A>G (p.Thr918=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001010T>G | CA418810744 | ABCA4 | c.6378A>C (p.Thr2126=) c.2754A>C (p.Thr918=) | |
| 1 | g.94001010T= | CA1181397672 | ABCA4 | c.6378A= (p.Thr2126=) c.2754A= (p.Thr918=) | |
| 1 | g.94001011G>A | CA341277446 | ABCA4 | c.6377C>T (p.Thr2126Ile) c.2753C>T (p.Thr918Ile) | ClinVar dbSNP |
| 1 | g.94001011G>C | CA341277444 | ABCA4 | c.6377C>G (p.Thr2126Arg) c.2753C>G (p.Thr918Arg) | |
| 1 | g.94001011G>T | CA341277445 | ABCA4 | c.6377C>A (p.Thr2126Lys) c.2753C>A (p.Thr918Lys) | |
| 1 | g.94001012T>A | CA956892 | ABCA4 | c.6376A>T (p.Thr2126Ser) c.2752A>T (p.Thr918Ser) | dbSNP ExAC gnomAD v4 |
| 1 | g.94001012T>C | CA341277448 | ABCA4 | c.6376A>G (p.Thr2126Ala) c.2752A>G (p.Thr918Ala) | |
| 1 | g.94001012T>G | CA341277447 | ABCA4 | c.6376A>C (p.Thr2126Pro) c.2752A>C (p.Thr918Pro) | |
| 1 | g.94001012T= | CA1181397675 | ABCA4 | c.6376A= (p.Thr2126=) c.2752A= (p.Thr918=) | |
| 1 | g.94001013G>A | CA418810755 | ABCA4 | c.6375C>T (p.Leu2125=) c.2751C>T (p.Leu917=) | |
| 1 | g.94001013G>C | CA418810759 | ABCA4 | c.6375C>G (p.Leu2125=) c.2751C>G (p.Leu917=) | |
| 1 | g.94001013G>T | CA418810757 | ABCA4 | c.6375C>A (p.Leu2125=) c.2751C>A (p.Leu917=) | |
| 1 | g.94001014A>C | CA341277449 | ABCA4 | c.6374T>G (p.Leu2125Arg) c.2750T>G (p.Leu917Arg) | |
| 1 | g.94001014A>G | CA341277450 | ABCA4 | c.6374T>C (p.Leu2125Pro) c.2750T>C (p.Leu917Pro) | |
| 1 | g.94001014A>T | CA341277451 | ABCA4 | c.6374T>A (p.Leu2125His) c.2750T>A (p.Leu917His) | |
| 1 | g.94001015G>A | CA341277452 | ABCA4 | c.6373C>T (p.Leu2125Phe) c.2749C>T (p.Leu917Phe) | |
| 1 | g.94001015G>C | CA341277453 | ABCA4 | c.6373C>G (p.Leu2125Val) c.2749C>G (p.Leu917Val) | |
| 1 | g.94001015G>T | CA341277454 | ABCA4 | c.6373C>A (p.Leu2125Ile) c.2749C>A (p.Leu917Ile) | |
| 1 | g.94001016G>A | CA418810766 | ABCA4 | c.6372C>T (p.Val2124=) c.2748C>T (p.Val916=) | |
| 1 | g.94001016G>C | CA418810768 | ABCA4 | c.6372C>G (p.Val2124=) c.2748C>G (p.Val916=) | gnomAD v4 |
| 1 | g.94001016G>T | CA418810770 | ABCA4 | c.6372C>A (p.Val2124=) c.2748C>A (p.Val916=) | |
| 1 | g.94001017A>C | CA341277455 | ABCA4 | c.6371T>G (p.Val2124Gly) c.2747T>G (p.Val916Gly) | |
| 1 | g.94001017A>G | CA341277456 | ABCA4 | c.6371T>C (p.Val2124Ala) c.2747T>C (p.Val916Ala) | |
| 1 | g.94001017A>T | CA341277457 | ABCA4 | c.6371T>A (p.Val2124Asp) c.2747T>A (p.Val916Asp) | |
| 1 | g.94001018C>A | CA341277458 | ABCA4 | c.6370G>T (p.Val2124Phe) c.2746G>T (p.Val916Phe) | |
| 1 | g.94001018C= | CA1149069588 | ABCA4 | c.6370G= (p.Val2124=) c.2746G= (p.Val916=) | |
| 1 | g.94001018C>G | CA341277459 | ABCA4 | c.6370G>C (p.Val2124Leu) c.2746G>C (p.Val916Leu) | |
| 1 | g.94001018C>T | CA956893 | ABCA4 | c.6370G>A (p.Val2124Ile) c.2746G>A (p.Val916Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001019C>A | CA418810780 | ABCA4 | c.6369G>T (p.Val2123=) c.2745G>T (p.Val915=) | |
| 1 | g.94001019C>G | CA418810782 | ABCA4 | c.6369G>C (p.Val2123=) c.2745G>C (p.Val915=) | |
| 1 | g.94001019C>T | CA418810783 | ABCA4 | c.6369G>A (p.Val2123=) c.2745G>A (p.Val915=) | ClinVar gnomAD v4 |
| 1 | g.94001020A>C | CA341277462 | ABCA4 | c.6368T>G (p.Val2123Gly) c.2744T>G (p.Val915Gly) | |
| 1 | g.94001020A>G | CA341277460 | ABCA4 | c.6368T>C (p.Val2123Ala) c.2744T>C (p.Val915Ala) | |
| 1 | g.94001020A>T | CA341277461 | ABCA4 | c.6368T>A (p.Val2123Glu) c.2744T>A (p.Val915Glu) | |
| 1 | g.94001021C>A | CA341277463 | ABCA4 | c.6367G>T (p.Val2123Leu) c.2743G>T (p.Val915Leu) | |
| 1 | g.94001021C= | CA1144652171 | ABCA4 | c.6367G= (p.Val2123=) c.2743G= (p.Val915=) | |
| 1 | g.94001021C>G | CA341277464 | ABCA4 | c.6367G>C (p.Val2123Leu) c.2743G>C (p.Val915Leu) | |
| 1 | g.94001021C>T | CA956894 | ABCA4 | c.6367G>A (p.Val2123Met) c.2743G>A (p.Val915Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001022A>C | CA418810798 | ABCA4 | c.6366T>G (p.Ala2122=) c.2742T>G (p.Ala914=) | |
| 1 | g.94001022A>G | CA418810793 | ABCA4 | c.6366T>C (p.Ala2122=) c.2742T>C (p.Ala914=) | |
| 1 | g.94001022A>T | CA418810795 | ABCA4 | c.6366T>A (p.Ala2122=) c.2742T>A (p.Ala914=) | |
| 1 | g.94001023G>A | CA341277465 | ABCA4 | c.6365C>T (p.Ala2122Val) c.2741C>T (p.Ala914Val) | |
| 1 | g.94001023G>C | CA341277466 | ABCA4 | c.6365C>G (p.Ala2122Gly) c.2741C>G (p.Ala914Gly) | |
| 1 | g.94001023G>T | CA341277467 | ABCA4 | c.6365C>A (p.Ala2122Asp) c.2741C>A (p.Ala914Asp) | COSMIC COSMIC |
| 1 | g.94001024C>A | CA341277468 | ABCA4 | c.6364G>T (p.Ala2122Ser) c.2740G>T (p.Ala914Ser) | gnomAD v4 |
| 1 | g.94001024C>G | CA341277469 | ABCA4 | c.6364G>C (p.Ala2122Pro) c.2740G>C (p.Ala914Pro) | |
| 1 | g.94001024C>T | CA341277470 | ABCA4 | c.6364G>A (p.Ala2122Thr) c.2740G>A (p.Ala914Thr) | |
| 1 | g.94001025C>A | CA341277471 | ABCA4 | c.6363G>T (p.Arg2121Ser) c.2739G>T (p.Arg913Ser) | |
| 1 | g.94001025C>G | CA341277472 | ABCA4 | c.6363G>C (p.Arg2121Ser) c.2739G>C (p.Arg913Ser) | |
| 1 | g.94001025C>T | CA418810809 | ABCA4 | c.6363G>A (p.Arg2121=) c.2739G>A (p.Arg913=) | |
| 1 | g.94001026C>A | CA341277475 | ABCA4 | c.6362G>T (p.Arg2121Met) c.2738G>T (p.Arg913Met) | |
| 1 | g.94001026C>G | CA341277474 | ABCA4 | c.6362G>C (p.Arg2121Thr) c.2738G>C (p.Arg913Thr) | |
| 1 | g.94001026C>T | CA341277473 | ABCA4 | c.6362G>A (p.Arg2121Lys) c.2738G>A (p.Arg913Lys) | gnomAD v4 |
| 1 | g.94001027T>A | CA341277477 | ABCA4 | c.6361A>T (p.Arg2121Trp) c.2737A>T (p.Arg913Trp) | |
| 1 | g.94001027T>C | CA341277476 | ABCA4 | c.6361A>G (p.Arg2121Gly) c.2737A>G (p.Arg913Gly) | |
| 1 | g.94001027T>G | CA418810815 | ABCA4 | c.6361A>C (p.Arg2121=) c.2737A>C (p.Arg913=) | |
| 1 | g.94001028C>A | CA418810822 | ABCA4 | c.6360G>T (p.Gly2120=) c.2736G>T (p.Gly912=) | |
| 1 | g.94001028C= | CA1181397682 | ABCA4 | c.6360G= (p.Gly2120=) c.2736G= (p.Gly912=) | |
| 1 | g.94001028C>G | CA418810819 | ABCA4 | c.6360G>C (p.Gly2120=) c.2736G>C (p.Gly912=) | gnomAD v4 |
| 1 | g.94001028C>T | CA418810820 | ABCA4 | c.6360G>A (p.Gly2120=) c.2736G>A (p.Gly912=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94001029C>A | CA341277478 | ABCA4 | c.6359G>T (p.Gly2120Val) c.2735G>T (p.Gly912Val) | |
| 1 | g.94001029C>G | CA341277479 | ABCA4 | c.6359G>C (p.Gly2120Ala) c.2735G>C (p.Gly912Ala) | |
| 1 | g.94001029C>T | CA341277480 | ABCA4 | c.6359G>A (p.Gly2120Glu) c.2735G>A (p.Gly912Glu) | COSMIC |
| 1 | g.94001030C>A | CA341277481 | ABCA4 | c.6358G>T (p.Gly2120Trp) c.2734G>T (p.Gly912Trp) | gnomAD v4 |
| 1 | g.94001030C>G | CA341277482 | ABCA4 | c.6358G>C (p.Gly2120Arg) c.2734G>C (p.Gly912Arg) | |
| 1 | g.94001030C>T | CA341277483 | ABCA4 | c.6358G>A (p.Gly2120Arg) c.2734G>A (p.Gly912Arg) | |
| 1 | g.94001031T>A | CA341277484 | ABCA4 | c.6357A>T (p.Glu2119Asp) c.2733A>T (p.Glu911Asp) | gnomAD v4 |
| 1 | g.94001031T>C | CA956895 | ABCA4 | c.6357A>G (p.Glu2119=) c.2733A>G (p.Glu911=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001031T>G | CA341277485 | ABCA4 | c.6357A>C (p.Glu2119Asp) c.2733A>C (p.Glu911Asp) | |
| 1 | g.94001031T= | CA1181397688 | ABCA4 | c.6357A= (p.Glu2119=) c.2733A= (p.Glu911=) | |
| 1 | g.94001032T>A | CA341277486 | ABCA4 | c.6356A>T (p.Glu2119Val) c.2732A>T (p.Glu911Val) | |
| 1 | g.94001032T>C | CA341277487 | ABCA4 | c.6356A>G (p.Glu2119Gly) c.2732A>G (p.Glu911Gly) | |
| 1 | g.94001032T>G | CA341277488 | ABCA4 | c.6356A>C (p.Glu2119Ala) c.2732A>C (p.Glu911Ala) | |
| 1 | g.94001033del | CA2586966855 | ABCA4 | c.6355del (p.Glu2119LysfsTer26) c.2731del (p.Glu911LysfsTer26) | |
| 1 | g.94001033C>A | CA341277491 | ABCA4 | c.6355G>T (p.Glu2119Ter) c.2731G>T (p.Glu911Ter) | |
| 1 | g.94001033C= | CA1181397689 | ABCA4 | c.6355G= (p.Glu2119=) c.2731G= (p.Glu911=) | |
| 1 | g.94001033C>G | CA341277489 | ABCA4 | c.6355G>C (p.Glu2119Gln) c.2731G>C (p.Glu911Gln) | |
| 1 | g.94001033C>T | CA341277490 | ABCA4 | c.6355G>A (p.Glu2119Lys) c.2731G>A (p.Glu911Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001034T>A | CA341277492 | ABCA4 | c.6354A>T (p.Arg2118Ser) c.2730A>T (p.Arg910Ser) | |
| 1 | g.94001034T>C | CA418810845 | ABCA4 | c.6354A>G (p.Arg2118=) c.2730A>G (p.Arg910=) | gnomAD v4 |
| 1 | g.94001034T>G | CA341277493 | ABCA4 | c.6354A>C (p.Arg2118Ser) c.2730A>C (p.Arg910Ser) | |
| 1 | g.94001035C>A | CA341277494 | ABCA4 | c.6353G>T (p.Arg2118Ile) c.2729G>T (p.Arg910Ile) | |
| 1 | g.94001035C>G | CA341277495 | ABCA4 | c.6353G>C (p.Arg2118Thr) c.2729G>C (p.Arg910Thr) | |
| 1 | g.94001035C>T | CA341277496 | ABCA4 | c.6353G>A (p.Arg2118Lys) c.2729G>A (p.Arg910Lys) | |
| 1 | g.94001035_94001036delinsCT | CA1181397691 | ABCA4 | c.6352_6353delinsAG (p.Arg2118=) c.2728_2729delinsAG (p.Arg910=) | |
| 1 | g.94001036del | CA227398 | ABCA4 | c.6352del (p.Arg2118GlufsTer27) c.2728del (p.Arg910GlufsTer27) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94001036T>A | CA341277497 | ABCA4 | c.6352A>T (p.Arg2118Ter) c.2728A>T (p.Arg910Ter) | |
| 1 | g.94001036T>C | CA341277498 | ABCA4 | c.6352A>G (p.Arg2118Gly) c.2728A>G (p.Arg910Gly) | |
| 1 | g.94001036T>G | CA418810853 | ABCA4 | c.6352A>C (p.Arg2118=) c.2728A>C (p.Arg910=) | |
| 1 | g.94001036T= | CA1140725977 | ABCA4 | c.6352A= (p.Arg2118=) c.2728A= (p.Arg910=) | |
| 1 | g.94001037G>A | CA418810858 | ABCA4 | c.6351C>T (p.Ile2117=) c.2727C>T (p.Ile909=) | |
| 1 | g.94001037G>C | CA341277499 | ABCA4 | c.6351C>G (p.Ile2117Met) c.2727C>G (p.Ile909Met) | |
| 1 | g.94001037G>T | CA418810856 | ABCA4 | c.6351C>A (p.Ile2117=) c.2727C>A (p.Ile909=) | |
| 1 | g.94001038A>C | CA341277500 | ABCA4 | c.6350T>G (p.Ile2117Ser) c.2726T>G (p.Ile909Ser) | |
| 1 | g.94001038A>G | CA341277501 | ABCA4 | c.6350T>C (p.Ile2117Thr) c.2726T>C (p.Ile909Thr) | |
| 1 | g.94001038A>T | CA341277502 | ABCA4 | c.6350T>A (p.Ile2117Asn) c.2726T>A (p.Ile909Asn) | |
| 1 | g.94001039T>A | CA341277504 | ABCA4 | c.6349A>T (p.Ile2117Phe) c.2725A>T (p.Ile909Phe) | |
| 1 | g.94001039T>C | CA341277505 | ABCA4 | c.6349A>G (p.Ile2117Val) c.2725A>G (p.Ile909Val) | |
| 1 | g.94001039T>G | CA341277503 | ABCA4 | c.6349A>C (p.Ile2117Leu) c.2725A>C (p.Ile909Leu) | |
| 1 | g.94001040G>A | CA418810871 | ABCA4 | c.6348C>T (p.Ile2116=) c.2724C>T (p.Ile908=) | |
| 1 | g.94001040G>C | CA341277506 | ABCA4 | c.6348C>G (p.Ile2116Met) c.2724C>G (p.Ile908Met) | |
| 1 | g.94001040G>T | CA418810869 | ABCA4 | c.6348C>A (p.Ile2116=) c.2724C>A (p.Ile908=) | |
| 1 | g.94001041A= | CA1181397697 | ABCA4 | c.6347T= (p.Ile2116=) c.2723T= (p.Ile908=) | |
| 1 | g.94001041A>C | CA341277508 | ABCA4 | c.6347T>G (p.Ile2116Ser) c.2723T>G (p.Ile908Ser) | |
| 1 | g.94001041A>G | CA341277507 | ABCA4 | c.6347T>C (p.Ile2116Thr) c.2723T>C (p.Ile908Thr) | |
| 1 | g.94001041A>T | CA956896 | ABCA4 | c.6347T>A (p.Ile2116Asn) c.2723T>A (p.Ile908Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94001042T>A | CA341277509 | ABCA4 | c.6346A>T (p.Ile2116Phe) c.2722A>T (p.Ile908Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001042T>C | CA956897 | ABCA4 | c.6346A>G (p.Ile2116Val) c.2722A>G (p.Ile908Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94001042T>G | CA341277510 | ABCA4 | c.6346A>C (p.Ile2116Leu) c.2722A>C (p.Ile908Leu) | |
| 1 | g.94001042T= | CA1181397700 | ABCA4 | c.6346A= (p.Ile2116=) c.2722A= (p.Ile908=) | |
| 1 | g.94001043G>A | CA418810883 | ABCA4 | c.6345C>T (p.Ser2115=) c.2721C>T (p.Ser907=) | |
| 1 | g.94001043G>C | CA341277511 | ABCA4 | c.6345C>G (p.Ser2115Arg) c.2721C>G (p.Ser907Arg) | |
| 1 | g.94001043G>T | CA341277512 | ABCA4 | c.6345C>A (p.Ser2115Arg) c.2721C>A (p.Ser907Arg) | COSMIC COSMIC |
| 1 | g.94001044C>A | CA341277513 | ABCA4 | c.6344G>T (p.Ser2115Ile) c.2720G>T (p.Ser907Ile) | |
| 1 | g.94001044C>G | CA341277514 | ABCA4 | c.6344G>C (p.Ser2115Thr) c.2720G>C (p.Ser907Thr) | gnomAD v4 |
| 1 | g.94001044C>T | CA341277515 | ABCA4 | c.6344G>A (p.Ser2115Asn) c.2720G>A (p.Ser907Asn) | COSMIC |
| 1 | g.94001045T>A | CA341277516 | ABCA4 | c.6343A>T (p.Ser2115Cys) c.2719A>T (p.Ser907Cys) | |
| 1 | g.94001045T>C | CA341277517 | ABCA4 | c.6343A>G (p.Ser2115Gly) c.2719A>G (p.Ser907Gly) | |
| 1 | g.94001045T>G | CA341277518 | ABCA4 | c.6343A>C (p.Ser2115Arg) c.2719A>C (p.Ser907Arg) | |
| 1 | g.94001046C>A | CA418810892 | ABCA4 | c.6342G>T (p.Val2114=) c.2718G>T (p.Val906=) | |
| 1 | g.94001046C= | CA1140725980 | ABCA4 | c.6342G= (p.Val2114=) c.2718G= (p.Val906=) | |
| 1 | g.94001046C>G | CA418810894 | ABCA4 | c.6342G>C (p.Val2114=) c.2718G>C (p.Val906=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001046C>T | CA227396 | ABCA4 | c.6342G>A (p.Val2114=) c.2718G>A (p.Val906=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001047A= | CA1181397709 | ABCA4 | c.6341T= (p.Val2114=) c.2717T= (p.Val906=) | |
| 1 | g.94001047A>C | CA341277520 | ABCA4 | c.6341T>G (p.Val2114Gly) c.2717T>G (p.Val906Gly) | |
| 1 | g.94001047A>G | CA956898 | ABCA4 | c.6341T>C (p.Val2114Ala) c.2717T>C (p.Val906Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94001047A>T | CA341277519 | ABCA4 | c.6341T>A (p.Val2114Glu) c.2717T>A (p.Val906Glu) | |
| 1 | g.94001048C>A | CA341277521 | ABCA4 | c.6340G>T (p.Val2114Leu) c.2716G>T (p.Val906Leu) | |
| 1 | g.94001048C= | CA1143527535 | ABCA4 | c.6340G= (p.Val2114=) c.2716G= (p.Val906=) | |
| 1 | g.94001048C>G | CA341277522 | ABCA4 | c.6340G>C (p.Val2114Leu) c.2716G>C (p.Val906Leu) | |
| 1 | g.94001048C>T | CA956899 | ABCA4 | c.6340G>A (p.Val2114Met) c.2716G>A (p.Val906Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94001049G>A | CA956900 | ABCA4 | c.6339C>T (p.Ile2113=) c.2715C>T (p.Ile905=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001049G>C | CA227394 | ABCA4 | c.6339C>G (p.Ile2113Met) c.2715C>G (p.Ile905Met) | ClinVar dbSNP |
| 1 | g.94001049G= | CA1140725981 | ABCA4 | c.6339C= (p.Ile2113=) c.2715C= (p.Ile905=) | |
| 1 | g.94001049G>T | CA418810903 | ABCA4 | c.6339C>A (p.Ile2113=) c.2715C>A (p.Ile905=) | |
| 1 | g.94001050A>C | CA341277523 | ABCA4 | c.6338T>G (p.Ile2113Ser) c.2714T>G (p.Ile905Ser) | |
| 1 | g.94001050A>G | CA341277524 | ABCA4 | c.6338T>C (p.Ile2113Thr) c.2714T>C (p.Ile905Thr) | |
| 1 | g.94001050A>T | CA341277525 | ABCA4 | c.6338T>A (p.Ile2113Asn) c.2714T>A (p.Ile905Asn) | |
| 1 | g.94001051T>A | CA341277526 | ABCA4 | c.6337A>T (p.Ile2113Phe) c.2713A>T (p.Ile905Phe) | |
| 1 | g.94001051T>C | CA341277527 | ABCA4 | c.6337A>G (p.Ile2113Val) c.2713A>G (p.Ile905Val) | |
| 1 | g.94001051T>G | CA956901 | ABCA4 | c.6337A>C (p.Ile2113Leu) c.2713A>C (p.Ile905Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94001051T= | CA1181397721 | ABCA4 | c.6337A= (p.Ile2113=) c.2713A= (p.Ile905=) | |
| 1 | g.94001052G>A | CA418810914 | ABCA4 | c.6336C>T (p.Val2112=) c.2712C>T (p.Val904=) | dbSNP gnomAD v4 |
| 1 | g.94001052G>C | CA418810918 | ABCA4 | c.6336C>G (p.Val2112=) c.2712C>G (p.Val904=) | |
| 1 | g.94001052G= | CA1181397723 | ABCA4 | c.6336C= (p.Val2112=) c.2712C= (p.Val904=) | |
| 1 | g.94001052G>T | CA418810916 | ABCA4 | c.6336C>A (p.Val2112=) c.2712C>A (p.Val904=) | |
| 1 | g.94001053del | CA2646644987 | ABCA4 | c.6335del (p.Val2112AlafsTer3) c.2711del (p.Val904AlafsTer3) | gnomAD v4 |
| 1 | g.94001053A>C | CA341277530 | ABCA4 | c.6335T>G (p.Val2112Gly) c.2711T>G (p.Val904Gly) | |
| 1 | g.94001053A>G | CA341277529 | ABCA4 | c.6335T>C (p.Val2112Ala) c.2711T>C (p.Val904Ala) | gnomAD v4 |
| 1 | g.94001053A>T | CA341277528 | ABCA4 | c.6335T>A (p.Val2112Asp) c.2711T>A (p.Val904Asp) | |
| 1 | g.94001054C>A | CA341277531 | ABCA4 | c.6334G>T (p.Val2112Phe) c.2710G>T (p.Val904Phe) | gnomAD v4 |
| 1 | g.94001054C= | CA1147570206 | ABCA4 | c.6334G= (p.Val2112=) c.2710G= (p.Val904=) | |
| 1 | g.94001054C>G | CA956903 | ABCA4 | c.6334G>C (p.Val2112Leu) c.2710G>C (p.Val904Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001054C>T | CA956902 | ABCA4 | c.6334G>A (p.Val2112Ile) c.2710G>A (p.Val904Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94001055G>A | CA956904 | ABCA4 | c.6333C>T (p.Asn2111=) c.2709C>T (p.Asn903=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001055G>C | CA341277532 | ABCA4 | c.6333C>G (p.Asn2111Lys) c.2709C>G (p.Asn903Lys) | |
| 1 | g.94001055G= | CA1143804838 | ABCA4 | c.6333C= (p.Asn2111=) c.2709C= (p.Asn903=) | |
| 1 | g.94001055G>T | CA341277533 | ABCA4 | c.6333C>A (p.Asn2111Lys) c.2709C>A (p.Asn903Lys) | dbSNP gnomAD v2 |
| 1 | g.94001056T>A | CA341277534 | ABCA4 | c.6332A>T (p.Asn2111Ile) c.2708A>T (p.Asn903Ile) | |
| 1 | g.94001056T>C | CA341277535 | ABCA4 | c.6332A>G (p.Asn2111Ser) c.2708A>G (p.Asn903Ser) | |
| 1 | g.94001056T>G | CA341277536 | ABCA4 | c.6332A>C (p.Asn2111Thr) c.2708A>C (p.Asn903Thr) | |
| 1 | g.94001056_94001065delinsTTCCACAGCA | CA1181397732 | ABCA4 | c.6323_6332delinsTGCTGTGGAA (p.Met2108=) c.2699_2708delinsTGCTGTGGAA (p.Met900=) | |
| 1 | g.94001057T>A | CA341277537 | ABCA4 | c.6331A>T (p.Asn2111Tyr) c.2707A>T (p.Asn903Tyr) | |
| 1 | g.94001057T>C | CA341277538 | ABCA4 | c.6331A>G (p.Asn2111Asp) c.2707A>G (p.Asn903Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001057T>G | CA341277539 | ABCA4 | c.6331A>C (p.Asn2111His) c.2707A>C (p.Asn903His) | |
| 1 | g.94001057T= | CA1181397737 | ABCA4 | c.6331A= (p.Asn2111=) c.2707A= (p.Asn903=) | |
| 1 | g.94001057_94001065delinsGCC | CA1181397736 | ABCA4 | c.6323_6331delinsGGC (p.Met2108_Asn2111delinsArgHis) c.2699_2707delinsGGC (p.Met900_Asn903delinsArgHis) | ClinVar dbSNP |
| 1 | g.94001058C>A | CA341277542 | ABCA4 | c.6330G>T (p.Trp2110Cys) c.2706G>T (p.Trp902Cys) | |
| 1 | g.94001058C>G | CA341277540 | ABCA4 | c.6330G>C (p.Trp2110Cys) c.2706G>C (p.Trp902Cys) | |
| 1 | g.94001058C>T | CA341277541 | ABCA4 | c.6330G>A (p.Trp2110Ter) c.2706G>A (p.Trp902Ter) | |
| 1 | g.94001059C>A | CA341277543 | ABCA4 | c.6329G>T (p.Trp2110Leu) c.2705G>T (p.Trp902Leu) | |
| 1 | g.94001059C= | CA1140762679 | ABCA4 | c.6329G= (p.Trp2110=) c.2705G= (p.Trp902=) | |
| 1 | g.94001059C>G | CA341277544 | ABCA4 | c.6329G>C (p.Trp2110Ser) c.2705G>C (p.Trp902Ser) | |
| 1 | g.94001059C>T | CA227392 | ABCA4 | c.6329G>A (p.Trp2110Ter) c.2705G>A (p.Trp902Ter) | ClinVar dbSNP |
| 1 | g.94001060A>C | CA341277545 | ABCA4 | c.6328T>G (p.Trp2110Gly) c.2704T>G (p.Trp902Gly) | |
| 1 | g.94001060A>G | CA341277546 | ABCA4 | c.6328T>C (p.Trp2110Arg) c.2704T>C (p.Trp902Arg) | ClinVar gnomAD v4 |
| 1 | g.94001060A>T | CA341277547 | ABCA4 | c.6328T>A (p.Trp2110Arg) c.2704T>A (p.Trp902Arg) | |
| 1 | g.94001061C>A | CA418810948 | ABCA4 | c.6327G>T (p.Leu2109=) c.2703G>T (p.Leu901=) | |
| 1 | g.94001061C= | CA1181397742 | ABCA4 | c.6327G= (p.Leu2109=) c.2703G= (p.Leu901=) | |
| 1 | g.94001061C>G | CA418810950 | ABCA4 | c.6327G>C (p.Leu2109=) c.2703G>C (p.Leu901=) | |
| 1 | g.94001061C>T | CA418810952 | ABCA4 | c.6327G>A (p.Leu2109=) c.2703G>A (p.Leu901=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001062A= | CA1181397746 | ABCA4 | c.6326T= (p.Leu2109=) c.2702T= (p.Leu901=) | |
| 1 | g.94001062A>C | CA341277548 | ABCA4 | c.6326T>G (p.Leu2109Arg) c.2702T>G (p.Leu901Arg) | |
| 1 | g.94001062A>G | CA10602407 | ABCA4 | c.6326T>C (p.Leu2109Pro) c.2702T>C (p.Leu901Pro) | ClinVar dbSNP |
| 1 | g.94001062A>T | CA341277549 | ABCA4 | c.6326T>A (p.Leu2109Gln) c.2702T>A (p.Leu901Gln) | |
| 1 | g.94001063G>A | CA956905 | ABCA4 | c.6325C>T (p.Leu2109=) c.2701C>T (p.Leu901=) | dbSNP ExAC gnomAD v2 |
| 1 | g.94001063G>C | CA341277550 | ABCA4 | c.6325C>G (p.Leu2109Val) c.2701C>G (p.Leu901Val) | |
| 1 | g.94001063G= | CA1144098362 | ABCA4 | c.6325C= (p.Leu2109=) c.2701C= (p.Leu901=) | |
| 1 | g.94001063G>T | CA341277551 | ABCA4 | c.6325C>A (p.Leu2109Met) c.2701C>A (p.Leu901Met) | |
| 1 | g.94001065_94001071del | CA645372222 | ABCA4 | c.6319_6325del (p.Arg2107CysfsTer6) c.2695_2701del (p.Arg899CysfsTer6) | |
| 1 | g.94001064C>A | CA341277553 | ABCA4 | c.6324G>T (p.Met2108Ile) c.2700G>T (p.Met900Ile) | |
| 1 | g.94001064C>G | CA341277554 | ABCA4 | c.6324G>C (p.Met2108Ile) c.2700G>C (p.Met900Ile) | |
| 1 | g.94001064C>T | CA341277552 | ABCA4 | c.6324G>A (p.Met2108Ile) c.2700G>A (p.Met900Ile) | gnomAD v4 COSMIC COSMIC |
| 1 | g.94001065A>C | CA341277555 | ABCA4 | c.6323T>G (p.Met2108Arg) c.2699T>G (p.Met900Arg) | |
| 1 | g.94001065A>G | CA341277556 | ABCA4 | c.6323T>C (p.Met2108Thr) c.2699T>C (p.Met900Thr) | |
| 1 | g.94001065A>T | CA341277557 | ABCA4 | c.6323T>A (p.Met2108Lys) c.2699T>A (p.Met900Lys) | |
| 1 | g.94001066T>A | CA341277558 | ABCA4 | c.6322A>T (p.Met2108Leu) c.2698A>T (p.Met900Leu) | |
| 1 | g.94001066T>C | CA341277559 | ABCA4 | c.6322A>G (p.Met2108Val) c.2698A>G (p.Met900Val) | |
| 1 | g.94001066T>G | CA341277560 | ABCA4 | c.6322A>C (p.Met2108Leu) c.2698A>C (p.Met900Leu) | |
| 1 | g.94001067G>A | CA418810970 | ABCA4 | c.6321C>T (p.Arg2107=) c.2697C>T (p.Arg899=) | |
| 1 | g.94001067G>C | CA418810974 | ABCA4 | c.6321C>G (p.Arg2107=) c.2697C>G (p.Arg899=) | |
| 1 | g.94001067G>T | CA418810972 | ABCA4 | c.6321C>A (p.Arg2107=) c.2697C>A (p.Arg899=) | |
| 1 | g.94001068C>A | CA341277561 | ABCA4 | c.6320G>T (p.Arg2107Leu) c.2696G>T (p.Arg899Leu) | |
| 1 | g.94001068C= | CA1140762680 | ABCA4 | c.6320G= (p.Arg2107=) c.2696G= (p.Arg899=) | |
| 1 | g.94001068C>G | CA227390 | ABCA4 | c.6320G>C (p.Arg2107Pro) c.2696G>C (p.Arg899Pro) | ClinVar dbSNP |
| 1 | g.94001068C>T | CA227389 | ABCA4 | c.6320G>A (p.Arg2107His) c.2696G>A (p.Arg899His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.[94001068C>T;94042767G>A] | CA2499306151 | ABCA4 | c.[3322C>T;6320G>A] (p.[Arg1108Cys;Arg2107His]) c.[-64-2678C>T;2696G>A] (p.Arg899His) | ClinVar |
| 1 | g.94001069G>A | CA956906 | ABCA4 | c.6319C>T (p.Arg2107Cys) c.2695C>T (p.Arg899Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001069G>C | CA341277562 | ABCA4 | c.6319C>G (p.Arg2107Gly) c.2695C>G (p.Arg899Gly) | |
| 1 | g.94001069G= | CA1139927669 | ABCA4 | c.6319C= (p.Arg2107=) c.2695C= (p.Arg899=) | |
| 1 | g.94001069G>T | CA26831758 | ABCA4 | c.6319C>A (p.Arg2107Ser) c.2695C>A (p.Arg899Ser) | ClinVar dbSNP |
| 1 | g.94001070G>A | CA418810984 | ABCA4 | c.6318C>T (p.Arg2106=) c.2694C>T (p.Arg898=) | |
| 1 | g.94001070G>C | CA418810986 | ABCA4 | c.6318C>G (p.Arg2106=) c.2694C>G (p.Arg898=) | |
| 1 | g.94001070G>T | CA418810988 | ABCA4 | c.6318C>A (p.Arg2106=) c.2694C>A (p.Arg898=) | |
| 1 | g.94001070_94001071delinsGC | CA1181397771 | ABCA4 | c.6317_6318delinsGC (p.Arg2106=) c.2693_2694delinsGC (p.Arg898=) | |
| 1 | g.94001071del | CA1139656184 | ABCA4 | c.6317del (p.Arg2106ProfsTer9) c.2693del (p.Arg898ProfsTer9) | ClinVar dbSNP |
| 1 | g.94001071C>A | CA341277563 | ABCA4 | c.6317G>T (p.Arg2106Leu) c.2693G>T (p.Arg898Leu) | |
| 1 | g.94001071C= | CA1181397777 | ABCA4 | c.6317G= (p.Arg2106=) c.2693G= (p.Arg898=) | |
| 1 | g.94001071C>G | CA341277564 | ABCA4 | c.6317G>C (p.Arg2106Pro) c.2693G>C (p.Arg898Pro) | |
| 1 | g.94001071C>T | CA16044110 | ABCA4 | c.6317G>A (p.Arg2106His) c.2693G>A (p.Arg898His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94001072_94001085dup | CA2739272659 | ABCA4 | c.6304_6317dup (p.Arg2107ThrfsTer13) c.2680_2693dup (p.Arg899ThrfsTer13) | ClinVar |
| 1 | g.94001072G>A | CA227388 | ABCA4 | c.6316C>T (p.Arg2106Cys) c.2692C>T (p.Arg898Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001072G>C | CA341277566 | ABCA4 | c.6316C>G (p.Arg2106Gly) c.2692C>G (p.Arg898Gly) | |
| 1 | g.94001072G= | CA1140725982 | ABCA4 | c.6316C= (p.Arg2106=) c.2692C= (p.Arg898=) | |
| 1 | g.94001072G>T | CA341277565 | ABCA4 | c.6316C>A (p.Arg2106Ser) c.2692C>A (p.Arg898Ser) | |
| 1 | g.94001073T>A | CA418810994 | ABCA4 | c.6315A>T (p.Ala2105=) c.2691A>T (p.Ala897=) | |
| 1 | g.94001073T>C | CA418810996 | ABCA4 | c.6315A>G (p.Ala2105=) c.2691A>G (p.Ala897=) | gnomAD v4 |
| 1 | g.94001073T>G | CA418810997 | ABCA4 | c.6315A>C (p.Ala2105=) c.2691A>C (p.Ala897=) | |
| 1 | g.94001074G>A | CA341277567 | ABCA4 | c.6314C>T (p.Ala2105Val) c.2690C>T (p.Ala897Val) | |
| 1 | g.94001074G>C | CA341277568 | ABCA4 | c.6314C>G (p.Ala2105Gly) c.2690C>G (p.Ala897Gly) | |
| 1 | g.94001074G>T | CA341277569 | ABCA4 | c.6314C>A (p.Ala2105Glu) c.2690C>A (p.Ala897Glu) | |
| 1 | g.94001074_94001075delinsGC | CA1181397785 | ABCA4 | c.6313_6314delinsGC (p.Ala2105=) c.2689_2690delinsGC (p.Ala897=) | |
| 1 | g.94001075C>A | CA341277570 | ABCA4 | c.6313G>T (p.Ala2105Ser) c.2689G>T (p.Ala897Ser) | |
| 1 | g.94001075C= | CA1149103074 | ABCA4 | c.6313G= (p.Ala2105=) c.2689G= (p.Ala897=) | |
| 1 | g.94001075C>G | CA341277571 | ABCA4 | c.6313G>C (p.Ala2105Pro) c.2689G>C (p.Ala897Pro) | |
| 1 | g.94001075C>T | CA956908 | ABCA4 | c.6313G>A (p.Ala2105Thr) c.2689G>A (p.Ala897Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94001076del | CA956907 | ABCA4 | c.6313del (p.Ala2105HisfsTer10) c.2689del (p.Ala897HisfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94001076C>A | CA341277572 | ABCA4 | c.6312G>T (p.Gln2104His) c.2688G>T (p.Gln896His) | COSMIC |
| 1 | g.94001076C>G | CA341277573 | ABCA4 | c.6312G>C (p.Gln2104His) c.2688G>C (p.Gln896His) | |
| 1 | g.94001076C>T | CA418811009 | ABCA4 | c.6312G>A (p.Gln2104=) c.2688G>A (p.Gln896=) | |
| 1 | g.94001077T>A | CA341277574 | ABCA4 | c.6311A>T (p.Gln2104Leu) c.2687A>T (p.Gln896Leu) | |
| 1 | g.94001077T>C | CA341277575 | ABCA4 | c.6311A>G (p.Gln2104Arg) c.2687A>G (p.Gln896Arg) | ClinVar dbSNP |
| 1 | g.94001077T>G | CA341277576 | ABCA4 | c.6311A>C (p.Gln2104Pro) c.2687A>C (p.Gln896Pro) | |
| 1 | g.94001077T= | CA1181397787 | ABCA4 | c.6311A= (p.Gln2104=) c.2687A= (p.Gln896=) | |
| 1 | g.94001078G>A | CA341277577 | ABCA4 | c.6310C>T (p.Gln2104Ter) c.2686C>T (p.Gln896Ter) | ClinVar |
| 1 | g.94001078G>C | CA341277579 | ABCA4 | c.6310C>G (p.Gln2104Glu) c.2686C>G (p.Gln896Glu) | gnomAD v4 |
| 1 | g.94001078G>T | CA341277578 | ABCA4 | c.6310C>A (p.Gln2104Lys) c.2686C>A (p.Gln896Lys) | |
| 1 | g.94001082dup | CA2573132674 | ABCA4 | c.6310dup (p.Gln2104ProfsTer?) c.2686dup (p.Gln896ProfsTer?) | ClinVar dbSNP |
| 1 | g.94001082del | CA2739291988 | ABCA4 | c.6310del (p.Gln2104ArgfsTer11) c.2686del (p.Gln896ArgfsTer11) | |
| 1 | g.94001081_94001082del | CA2586966857 | ABCA4 | c.6309_6310del (p.Gln2104GlyfsTer?) c.2685_2686del (p.Gln896GlyfsTer?) | |
| 1 | g.94001079G>A | CA418811020 | ABCA4 | c.6309C>T (p.Pro2103=) c.2685C>T (p.Pro895=) | |
| 1 | g.94001079G>C | CA418811021 | ABCA4 | c.6309C>G (p.Pro2103=) c.2685C>G (p.Pro895=) | |
| 1 | g.94001079G>T | CA418811022 | ABCA4 | c.6309C>A (p.Pro2103=) c.2685C>A (p.Pro895=) | |
| 1 | g.94001080G>A | CA341277580 | ABCA4 | c.6308C>T (p.Pro2103Leu) c.2684C>T (p.Pro895Leu) | |
| 1 | g.94001080G>C | CA341277581 | ABCA4 | c.6308C>G (p.Pro2103Arg) c.2684C>G (p.Pro895Arg) | |
| 1 | g.94001080G>T | CA341277582 | ABCA4 | c.6308C>A (p.Pro2103His) c.2684C>A (p.Pro895His) | ClinVar dbSNP |
| 1 | g.94001080_94001089delinsTGGTCCATCT | CA2586966858 | ABCA4 | c.6299_6308delinsAGATGGACCA (p.Gly2100_Pro2103delinsGluMetAspHis) c.2675_2684delinsAGATGGACCA (p.Gly892_Pro895delinsGluMetAspHis) | |
| 1 | g.94001081G>A | CA341277583 | ABCA4 | c.6307C>T (p.Pro2103Ser) c.2683C>T (p.Pro895Ser) | gnomAD v4 |
| 1 | g.94001081G>C | CA341277584 | ABCA4 | c.6307C>G (p.Pro2103Ala) c.2683C>G (p.Pro895Ala) | |
| 1 | g.94001081G>T | CA341277585 | ABCA4 | c.6307C>A (p.Pro2103Thr) c.2683C>A (p.Pro895Thr) | gnomAD v4 |
| 1 | g.94001082G>A | CA956909 | ABCA4 | c.6306C>T (p.Asp2102=) c.2682C>T (p.Asp894=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94001082G>C | CA341277586 | ABCA4 | c.6306C>G (p.Asp2102Glu) c.2682C>G (p.Asp894Glu) | |
| 1 | g.94001082G= | CA1147387616 | ABCA4 | c.6306C= (p.Asp2102=) c.2682C= (p.Asp894=) | |
| 1 | g.94001082G>T | CA956910 | ABCA4 | c.6306C>A (p.Asp2102Glu) c.2682C>A (p.Asp894Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001083T>A | CA341277587 | ABCA4 | c.6305A>T (p.Asp2102Val) c.2681A>T (p.Asp894Val) | |
| 1 | g.94001083T>C | CA341277588 | ABCA4 | c.6305A>G (p.Asp2102Gly) c.2681A>G (p.Asp894Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001083T>G | CA341277589 | ABCA4 | c.6305A>C (p.Asp2102Ala) c.2681A>C (p.Asp894Ala) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94001083T= | CA1181397792 | ABCA4 | c.6305A= (p.Asp2102=) c.2681A= (p.Asp894=) | |
| 1 | g.94001084C>A | CA341277592 | ABCA4 | c.6304G>T (p.Asp2102Tyr) c.2680G>T (p.Asp894Tyr) | |
| 1 | g.94001084C>G | CA341277591 | ABCA4 | c.6304G>C (p.Asp2102His) c.2680G>C (p.Asp894His) | gnomAD v4 |
| 1 | g.94001084C>T | CA341277590 | ABCA4 | c.6304G>A (p.Asp2102Asn) c.2680G>A (p.Asp894Asn) | |
| 1 | g.94001085del | CA2646644988 | ABCA4 | c.6304del (p.Asp2102ThrfsTer13) c.2680del (p.Asp894ThrfsTer13) | gnomAD v4 |
| 1 | g.94001085C>A | CA341277593 | ABCA4 | c.6303G>T (p.Met2101Ile) c.2679G>T (p.Met893Ile) | |
| 1 | g.94001085C>G | CA341277594 | ABCA4 | c.6303G>C (p.Met2101Ile) c.2679G>C (p.Met893Ile) | |
| 1 | g.94001085C>T | CA341277595 | ABCA4 | c.6303G>A (p.Met2101Ile) c.2679G>A (p.Met893Ile) | gnomAD v4 COSMIC COSMIC |
| 1 | g.94001086A= | CA1181397794 | ABCA4 | c.6302T= (p.Met2101=) c.2678T= (p.Met893=) | |
| 1 | g.94001086A>C | CA341277596 | ABCA4 | c.6302T>G (p.Met2101Arg) c.2678T>G (p.Met893Arg) | ClinVar dbSNP |
| 1 | g.94001086A>G | CA341277597 | ABCA4 | c.6302T>C (p.Met2101Thr) c.2678T>C (p.Met893Thr) | |
| 1 | g.94001086A>T | CA341277598 | ABCA4 | c.6302T>A (p.Met2101Lys) c.2678T>A (p.Met893Lys) | |
| 1 | g.94001087T>A | CA341277599 | ABCA4 | c.6301A>T (p.Met2101Leu) c.2677A>T (p.Met893Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94001087T>C | CA341277600 | ABCA4 | c.6301A>G (p.Met2101Val) c.2677A>G (p.Met893Val) | gnomAD v4 |
| 1 | g.94001087T>G | CA341277601 | ABCA4 | c.6301A>C (p.Met2101Leu) c.2677A>C (p.Met893Leu) | |
| 1 | g.94001087T= | CA1181397799 | ABCA4 | c.6301A= (p.Met2101=) c.2677A= (p.Met893=) | |
| 1 | g.94001087_94001088delinsTC | CA1181397800 | ABCA4 | c.6300_6301delinsGA (p.Gly2100=) c.2676_2677delinsGA (p.Gly892=) | |
| 1 | g.94001088C>A | CA418811053 | ABCA4 | c.6300G>T (p.Gly2100=) c.2676G>T (p.Gly892=) | |
| 1 | g.94001088C= | CA1181397803 | ABCA4 | c.6300G= (p.Gly2100=) c.2676G= (p.Gly892=) | |
| 1 | g.94001088C>G | CA418811056 | ABCA4 | c.6300G>C (p.Gly2100=) c.2676G>C (p.Gly892=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001088C>T | CA418811058 | ABCA4 | c.6300G>A (p.Gly2100=) c.2676G>A (p.Gly892=) | |
| 1 | g.94001088_94001090delinsCCC | CA1140725985 | ABCA4 | c.6298_6300delinsGGG (p.Gly2100=) c.2674_2676delinsGGG (p.Gly892=) | |
| 1 | g.94001090del | CA227387 | ABCA4 | c.6300del (p.Met2101TrpfsTer14) c.2676del (p.Met893TrpfsTer14) | ClinVar dbSNP |
| 1 | g.94001089C>A | CA341277602 | ABCA4 | c.6299G>T (p.Gly2100Val) c.2675G>T (p.Gly892Val) | |
| 1 | g.94001089C>G | CA341277603 | ABCA4 | c.6299G>C (p.Gly2100Ala) c.2675G>C (p.Gly892Ala) | |
| 1 | g.94001089C>T | CA341277604 | ABCA4 | c.6299G>A (p.Gly2100Glu) c.2675G>A (p.Gly892Glu) | ClinVar dbSNP COSMIC |
| 1 | g.94001090C>A | CA341277606 | ABCA4 | c.6298G>T (p.Gly2100Trp) c.2674G>T (p.Gly892Trp) | gnomAD v4 |
| 1 | g.94001090C>G | CA341277607 | ABCA4 | c.6298G>C (p.Gly2100Arg) c.2674G>C (p.Gly892Arg) | |
| 1 | g.94001090C>T | CA341277605 | ABCA4 | c.6298G>A (p.Gly2100Arg) c.2674G>A (p.Gly892Arg) | COSMIC |
| 1 | g.94001091T>A | CA418811071 | ABCA4 | c.6297A>T (p.Thr2099=) c.2673A>T (p.Thr891=) | |
| 1 | g.94001091T>C | CA418811073 | ABCA4 | c.6297A>G (p.Thr2099=) c.2673A>G (p.Thr891=) | |
| 1 | g.94001091T>G | CA418811069 | ABCA4 | c.6297A>C (p.Thr2099=) c.2673A>C (p.Thr891=) | ClinVar |
| 1 | g.94001092G>A | CA341277609 | ABCA4 | c.6296C>T (p.Thr2099Ile) c.2672C>T (p.Thr891Ile) | dbSNP gnomAD v4 |
| 1 | g.94001092G>C | CA341277608 | ABCA4 | c.6296C>G (p.Thr2099Arg) c.2672C>G (p.Thr891Arg) | |
| 1 | g.94001092G= | CA1181397809 | ABCA4 | c.6296C= (p.Thr2099=) c.2672C= (p.Thr891=) | |
| 1 | g.94001092G>T | CA341277610 | ABCA4 | c.6296C>A (p.Thr2099Lys) c.2672C>A (p.Thr891Lys) | |
| 1 | g.94001093T>A | CA341277611 | ABCA4 | c.6295A>T (p.Thr2099Ser) c.2671A>T (p.Thr891Ser) | |
| 1 | g.94001093T>C | CA341277613 | ABCA4 | c.6295A>G (p.Thr2099Ala) c.2671A>G (p.Thr891Ala) | |
| 1 | g.94001093T>G | CA341277612 | ABCA4 | c.6295A>C (p.Thr2099Pro) c.2671A>C (p.Thr891Pro) | |
| 1 | g.94001093_94001111delinsTGGTGGGCTCATCCTGGGG | CA1181397811 | ABCA4 | c.6283-6_6295delinsCCCCAGGATGAGCCCACCA c.2659-6_2671delinsCCCCAGGATGAGCCCACCA | |
| 1 | g.94001094G>A | CA418811082 | ABCA4 | c.6294C>T (p.Thr2098=) c.2670C>T (p.Thr890=) | |
| 1 | g.94001094G>C | CA418811084 | ABCA4 | c.6294C>G (p.Thr2098=) c.2670C>G (p.Thr890=) | |
| 1 | g.94001094G>T | CA418811085 | ABCA4 | c.6294C>A (p.Thr2098=) c.2670C>A (p.Thr890=) | |
| 1 | g.94001096_94001111del | CA2646644989 | ABCA4 | c.6283-4_6294del c.2659-4_2670del | gnomAD v4 |
| 1 | g.94001099_94001116del | CA524697328 | ABCA4 | c.6283-6_6294del c.2659-6_2670del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94001095G>A | CA341277614 | ABCA4 | c.6293C>T (p.Thr2098Ile) c.2669C>T (p.Thr890Ile) | |
| 1 | g.94001095G>C | CA341277615 | ABCA4 | c.6293C>G (p.Thr2098Ser) c.2669C>G (p.Thr890Ser) | |
| 1 | g.94001095G>T | CA341277616 | ABCA4 | c.6293C>A (p.Thr2098Asn) c.2669C>A (p.Thr890Asn) | |
| 1 | g.94001096T>A | CA341277617 | ABCA4 | c.6292A>T (p.Thr2098Ser) c.2668A>T (p.Thr890Ser) | |
| 1 | g.94001096T>C | CA341277618 | ABCA4 | c.6292A>G (p.Thr2098Ala) c.2668A>G (p.Thr890Ala) | ClinVar dbSNP |
| 1 | g.94001096T>G | CA341277619 | ABCA4 | c.6292A>C (p.Thr2098Pro) c.2668A>C (p.Thr890Pro) | |
| 1 | g.94001097G>A | CA418811095 | ABCA4 | c.6291C>T (p.Pro2097=) c.2667C>T (p.Pro889=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94001097G>C | CA418811094 | ABCA4 | c.6291C>G (p.Pro2097=) c.2667C>G (p.Pro889=) | |
| 1 | g.94001097G= | CA1181397813 | ABCA4 | c.6291C= (p.Pro2097=) c.2667C= (p.Pro889=) | |
| 1 | g.94001097G>T | CA418811092 | ABCA4 | c.6291C>A (p.Pro2097=) c.2667C>A (p.Pro889=) | |
| 1 | g.94001098G>A | CA341277621 | ABCA4 | c.6290C>T (p.Pro2097Leu) c.2666C>T (p.Pro889Leu) | ClinVar dbSNP |
| 1 | g.94001098G>C | CA956911 | ABCA4 | c.6290C>G (p.Pro2097Arg) c.2666C>G (p.Pro889Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94001098G= | CA1148432111 | ABCA4 | c.6290C= (p.Pro2097=) c.2666C= (p.Pro889=) | |
| 1 | g.94001098G>T | CA341277620 | ABCA4 | c.6290C>A (p.Pro2097His) c.2666C>A (p.Pro889His) | |
| 1 | g.94001099G>A | CA341277622 | ABCA4 | c.6289C>T (p.Pro2097Ser) c.2665C>T (p.Pro889Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94001099G>C | CA341277623 | ABCA4 | c.6289C>G (p.Pro2097Ala) c.2665C>G (p.Pro889Ala) | |
| 1 | g.94001099G= | CA1181397815 | ABCA4 | c.6289C= (p.Pro2097=) c.2665C= (p.Pro889=) | |
| 1 | g.94001099G>T | CA341277624 | ABCA4 | c.6289C>A (p.Pro2097Thr) c.2665C>A (p.Pro889Thr) | ClinVar |
| 1 | g.94001099_94001100insTGTGTTTG | CA2744613978 | ABCA4 | c.6289_6290insAAACACAC (p.Pro2097GlnfsTer21) c.2665_2666insAAACACAC (p.Pro889GlnfsTer21) | |
| 1 | g.94001100C>A | CA341277625 | ABCA4 | c.6288G>T (p.Glu2096Asp) c.2664G>T (p.Glu888Asp) | |
| 1 | g.94001100C>G | CA341277626 | ABCA4 | c.6288G>C (p.Glu2096Asp) c.2664G>C (p.Glu888Asp) | ClinVar dbSNP |
| 1 | g.94001100C>T | CA418811105 | ABCA4 | c.6288G>A (p.Glu2096=) c.2664G>A (p.Glu888=) | |
| 1 | g.94001101T>A | CA341277629 | ABCA4 | c.6287A>T (p.Glu2096Val) c.2663A>T (p.Glu888Val) | |
| 1 | g.94001101T>C | CA341277627 | ABCA4 | c.6287A>G (p.Glu2096Gly) c.2663A>G (p.Glu888Gly) | ClinVar |
| 1 | g.94001101T>G | CA341277628 | ABCA4 | c.6287A>C (p.Glu2096Ala) c.2663A>C (p.Glu888Ala) | |
| 1 | g.94001102C>A | CA341277630 | ABCA4 | c.6286G>T (p.Glu2096Ter) c.2662G>T (p.Glu888Ter) | |
| 1 | g.94001102C= | CA1140725989 | ABCA4 | c.6286G= (p.Glu2096=) c.2662G= (p.Glu888=) | |
| 1 | g.94001102C>G | CA341277631 | ABCA4 | c.6286G>C (p.Glu2096Gln) c.2662G>C (p.Glu888Gln) | |
| 1 | g.94001102C>T | CA227386 | ABCA4 | c.6286G>A (p.Glu2096Lys) c.2662G>A (p.Glu888Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001102_94001103delinsTG | CA916082045 | ABCA4 | c.6285_6286delinsCA (p.Glu2096Lys) c.2661_2662delinsCA (p.Glu888Lys) | ClinVar |
| 1 | g.94001103A= | CA1139894819 | ABCA4 | c.6285T= (p.Asp2095=) c.2661T= (p.Asp887=) | |
| 1 | g.94001103A>C | CA341277632 | ABCA4 | c.6285T>G (p.Asp2095Glu) c.2661T>G (p.Asp887Glu) | gnomAD v4 |
| 1 | g.94001103A>G | CA285825 | ABCA4 | c.6285T>C (p.Asp2095=) c.2661T>C (p.Asp887=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94001103A>T | CA341277633 | ABCA4 | c.6285T>A (p.Asp2095Glu) c.2661T>A (p.Asp887Glu) | |
| 1 | g.94001104T>A | CA16617199 | ABCA4 | c.6284A>T (p.Asp2095Val) c.2660A>T (p.Asp887Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94001104T>C | CA341277634 | ABCA4 | c.6284A>G (p.Asp2095Gly) c.2660A>G (p.Asp887Gly) | dbSNP gnomAD v2 |
| 1 | g.94001104T>G | CA341277635 | ABCA4 | c.6284A>C (p.Asp2095Ala) c.2660A>C (p.Asp887Ala) | |
| 1 | g.94001104T= | CA1181397828 | ABCA4 | c.6284A= (p.Asp2095=) c.2660A= (p.Asp887=) |