| 1 | g.94111479T>A | CA418825827 | ABCA4 | c.261A>T (p.Pro87=)
| |
| 1 | g.94111479T>C | CA418825823 | ABCA4 | c.261A>G (p.Pro87=)
| gnomAD v4 |
| 1 | g.94111479T>G | CA418825824 | ABCA4 | c.261A>C (p.Pro87=)
| |
| 1 | g.94111480G>A | CA341285429 | ABCA4 | c.260C>T (p.Pro87Leu)
| dbSNP COSMIC |
| 1 | g.94111480G>C | CA341285430 | ABCA4 | c.260C>G (p.Pro87Arg)
| |
| 1 | g.94111480G= | CA1181447798 | ABCA4 | c.260C= (p.Pro87=)
| |
| 1 | g.94111480G>T | CA341285431 | ABCA4 | c.260C>A (p.Pro87Gln)
| |
| 1 | g.94111483del | CA2573132726 | ABCA4 | c.260del (p.Pro87GlnfsTer28)
| ClinVar dbSNP |
| 1 | g.94111481G>A | CA341285432 | ABCA4 | c.259C>T (p.Pro87Ser)
| |
| 1 | g.94111481G>C | CA341285433 | ABCA4 | c.259C>G (p.Pro87Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111481G= | CA1181447799 | ABCA4 | c.259C= (p.Pro87=)
| |
| 1 | g.94111481G>T | CA341285434 | ABCA4 | c.259C>A (p.Pro87Thr)
| |
| 1 | g.94111482G>A | CA418825830 | ABCA4 | c.258C>T (p.Thr86=)
| gnomAD v4 |
| 1 | g.94111482G>C | CA418825831 | ABCA4 | c.258C>G (p.Thr86=)
| |
| 1 | g.94111482G>T | CA418825832 | ABCA4 | c.258C>A (p.Thr86=)
| |
| 1 | g.94111482_94111484delinsGGT | CA1181447800 | ABCA4 | c.256_258delinsACC (p.Thr86=)
| |
| 1 | g.94111483G>A | CA341285435 | ABCA4 | c.257C>T (p.Thr86Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94111483G>C | CA341285436 | ABCA4 | c.257C>G (p.Thr86Ser)
| gnomAD v4 |
| 1 | g.94111483G= | CA1181447801 | ABCA4 | c.257C= (p.Thr86=)
| |
| 1 | g.94111483G>T | CA341285437 | ABCA4 | c.257C>A (p.Thr86Asn)
| dbSNP |
| 1 | g.94111484_94111485del | CA916237754 | ABCA4 | c.256_257del (p.Thr86ProfsTer12)
| dbSNP gnomAD v4 |
| 1 | g.94111484T>A | CA341285438 | ABCA4 | c.256A>T (p.Thr86Ser)
| |
| 1 | g.94111484T>C | CA341285439 | ABCA4 | c.256A>G (p.Thr86Ala)
| |
| 1 | g.94111484T>G | CA341285440 | ABCA4 | c.256A>C (p.Thr86Pro)
| |
| 1 | g.94111485G>A | CA418825835 | ABCA4 | c.255C>T (p.Pro85=)
| gnomAD v4 |
| 1 | g.94111485G>C | CA418825834 | ABCA4 | c.255C>G (p.Pro85=)
| |
| 1 | g.94111485G= | CA1143700071 | ABCA4 | c.255C= (p.Pro85=)
| |
| 1 | g.94111485G>T | CA26842457 | ABCA4 | c.255C>A (p.Pro85=)
| dbSNP gnomAD v4 |
| 1 | g.94111486G>A | CA341285441 | ABCA4 | c.254C>T (p.Pro85Leu)
| COSMIC |
| 1 | g.94111486G>C | CA341285442 | ABCA4 | c.254C>G (p.Pro85Arg)
| |
| 1 | g.94111486G>T | CA341285443 | ABCA4 | c.254C>A (p.Pro85His)
| gnomAD v4 |
| 1 | g.94111487G>A | CA341285444 | ABCA4 | c.253C>T (p.Pro85Ser)
| dbSNP gnomAD v4 |
| 1 | g.94111487G>C | CA341285445 | ABCA4 | c.253C>G (p.Pro85Ala)
| |
| 1 | g.94111487G= | CA1181447802 | ABCA4 | c.253C= (p.Pro85=)
| |
| 1 | g.94111487G>T | CA341285446 | ABCA4 | c.253C>A (p.Pro85Thr)
| |
| 1 | g.94111488G>A | CA418825840 | ABCA4 | c.252C>T (p.Ser84=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111488G>C | CA341285447 | ABCA4 | c.252C>G (p.Ser84Arg)
| |
| 1 | g.94111488G= | CA1181447803 | ABCA4 | c.252C= (p.Ser84=)
| |
| 1 | g.94111488G>T | CA341285448 | ABCA4 | c.252C>A (p.Ser84Arg)
| |
| 1 | g.94111489C>A | CA958889 | ABCA4 | c.251G>T (p.Ser84Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94111489C= | CA1181447804 | ABCA4 | c.251G= (p.Ser84=)
| |
| 1 | g.94111489C>G | CA341285449 | ABCA4 | c.251G>C (p.Ser84Thr)
| |
| 1 | g.94111489C>T | CA341285450 | ABCA4 | c.251G>A (p.Ser84Asn)
| |
| 1 | g.94111489_94111493delinsCTTTG | CA1181447805 | ABCA4 | c.247_251delinsCAAAG (p.Gln83=)
| |
| 1 | g.94111490T>A | CA341285453 | ABCA4 | c.250A>T (p.Ser84Cys)
| |
| 1 | g.94111490T>C | CA341285452 | ABCA4 | c.250A>G (p.Ser84Gly)
| |
| 1 | g.94111490T>G | CA341285451 | ABCA4 | c.250A>C (p.Ser84Arg)
| |
| 1 | g.94111490T= | CA1181447806 | ABCA4 | c.250A= (p.Ser84=)
| |
| 1 | g.94111490_94111493del | CA227004 | ABCA4 | c.247_250del (p.Gln83AlafsTer?)
| ClinVar dbSNP |
| 1 | g.94111490_94111493delinsTTTG | CA1140726119 | ABCA4 | c.247_250delinsCAAA (p.Gln83=)
| |
| 1 | g.94111490_94111493dup | CA26842462 | ABCA4 | c.247_250dup (p.Ser84ThrfsTer16)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111491T>A | CA341285454 | ABCA4 | c.249A>T (p.Gln83His)
| |
| 1 | g.94111491T>C | CA418825847 | ABCA4 | c.249A>G (p.Gln83=)
| |
| 1 | g.94111491T>G | CA341285455 | ABCA4 | c.249A>C (p.Gln83His)
| |
| 1 | g.94111491_94111492delinsTT | CA1140726123 | ABCA4 | c.248_249delinsAA (p.Gln83=)
| |
| 1 | g.94111492_94111493insTGTT | CA227005 | ABCA4 | c.249_250insCAAA (p.Ser84GlnfsTer16)
| ClinVar dbSNP |
| 1 | g.94111492T>A | CA341285456 | ABCA4 | c.248A>T (p.Gln83Leu)
| |
| 1 | g.94111492T>C | CA341285457 | ABCA4 | c.248A>G (p.Gln83Arg)
| gnomAD v4 |
| 1 | g.94111492T>G | CA341285458 | ABCA4 | c.248A>C (p.Gln83Pro)
| |
| 1 | g.94111493G>A | CA341285459 | ABCA4 | c.247C>T (p.Gln83Ter)
| |
| 1 | g.94111493G>C | CA341285460 | ABCA4 | c.247C>G (p.Gln83Glu)
| |
| 1 | g.94111493G>T | CA341285461 | ABCA4 | c.247C>A (p.Gln83Lys)
| |
| 1 | g.94111494A>C | CA341285462 | ABCA4 | c.246T>G (p.Phe82Leu)
| |
| 1 | g.94111494A>G | CA418825853 | ABCA4 | c.246T>C (p.Phe82=)
| ClinVar gnomAD v4 |
| 1 | g.94111494A>T | CA341285463 | ABCA4 | c.246T>A (p.Phe82Leu)
| |
| 1 | g.94111495A>C | CA341285465 | ABCA4 | c.245T>G (p.Phe82Cys)
| |
| 1 | g.94111495A>G | CA341285466 | ABCA4 | c.245T>C (p.Phe82Ser)
| |
| 1 | g.94111495A>T | CA341285464 | ABCA4 | c.245T>A (p.Phe82Tyr)
| |
| 1 | g.94111496A= | CA1181447807 | ABCA4 | c.244T= (p.Phe82=)
| |
| 1 | g.94111496A>C | CA341285467 | ABCA4 | c.244T>G (p.Phe82Val)
| |
| 1 | g.94111496A>G | CA341285468 | ABCA4 | c.244T>C (p.Phe82Leu)
| dbSNP |
| 1 | g.94111496A>T | CA341285469 | ABCA4 | c.244T>A (p.Phe82Ile)
| |
| 1 | g.94111497A= | CA1148569809 | ABCA4 | c.243T= (p.Cys81=)
| |
| 1 | g.94111497A>C | CA341285470 | ABCA4 | c.243T>G (p.Cys81Trp)
| |
| 1 | g.94111497A>G | CA418825856 | ABCA4 | c.243T>C (p.Cys81=)
| |
| 1 | g.94111497A>T | CA958890 | ABCA4 | c.243T>A (p.Cys81Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111498C>A | CA341285473 | ABCA4 | c.242G>T (p.Cys81Phe)
| |
| 1 | g.94111498C= | CA1181447808 | ABCA4 | c.242G= (p.Cys81=)
| |
| 1 | g.94111498C>G | CA341285471 | ABCA4 | c.242G>C (p.Cys81Ser)
| ClinVar dbSNP |
| 1 | g.94111498C>T | CA341285472 | ABCA4 | c.242G>A (p.Cys81Tyr)
| |
| 1 | g.94111499A>C | CA341285474 | ABCA4 | c.241T>G (p.Cys81Gly)
| |
| 1 | g.94111499A>G | CA341285475 | ABCA4 | c.241T>C (p.Cys81Arg)
| |
| 1 | g.94111499A>T | CA341285476 | ABCA4 | c.241T>A (p.Cys81Ser)
| |
| 1 | g.94111499_94111500del | CA645372151 | ABCA4 | c.240_241del (p.Cys81PhefsTer17)
| ClinVar gnomAD v4 |
| 1 | g.94111500G>A | CA418825860 | ABCA4 | c.240C>T (p.Pro80=)
| |
| 1 | g.94111500G>C | CA418825862 | ABCA4 | c.240C>G (p.Pro80=)
| |
| 1 | g.94111500G>T | CA418825861 | ABCA4 | c.240C>A (p.Pro80=)
| |
| 1 | g.94111501G>A | CA341285477 | ABCA4 | c.239C>T (p.Pro80Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111501G>C | CA341285478 | ABCA4 | c.239C>G (p.Pro80Arg)
| |
| 1 | g.94111501G= | CA1181447809 | ABCA4 | c.239C= (p.Pro80=)
| |
| 1 | g.94111501G>T | CA341285479 | ABCA4 | c.239C>A (p.Pro80His)
| |
| 1 | g.94111502G>A | CA341285481 | ABCA4 | c.238C>T (p.Pro80Ser)
| |
| 1 | g.94111502G>C | CA341285482 | ABCA4 | c.238C>G (p.Pro80Ala)
| |
| 1 | g.94111502G>T | CA341285480 | ABCA4 | c.238C>A (p.Pro80Thr)
| |
| 1 | g.94111503A= | CA1142298699 | ABCA4 | c.237T= (p.Asn79=)
| |
| 1 | g.94111503A>C | CA341285483 | ABCA4 | c.237T>G (p.Asn79Lys)
| |
| 1 | g.94111503A>G | CA958891 | ABCA4 | c.237T>C (p.Asn79=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111503A>T | CA341285484 | ABCA4 | c.237T>A (p.Asn79Lys)
| ClinVar |
| 1 | g.94111504T>A | CA341285485 | ABCA4 | c.236A>T (p.Asn79Ile)
| |
| 1 | g.94111504T>C | CA341285486 | ABCA4 | c.236A>G (p.Asn79Ser)
| gnomAD v4 |
| 1 | g.94111504T>G | CA341285487 | ABCA4 | c.236A>C (p.Asn79Thr)
| |
| 1 | g.94111505T>A | CA341285488 | ABCA4 | c.235A>T (p.Asn79Tyr)
| |
| 1 | g.94111505T>C | CA341285489 | ABCA4 | c.235A>G (p.Asn79Asp)
| |
| 1 | g.94111505T>G | CA341285490 | ABCA4 | c.235A>C (p.Asn79His)
| COSMIC |
| 1 | g.94111506G>A | CA226994 | ABCA4 | c.234C>T (p.Asn78=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94111506G>C | CA341285491 | ABCA4 | c.234C>G (p.Asn78Lys)
| |
| 1 | g.94111506G= | CA1140726127 | ABCA4 | c.234C= (p.Asn78=)
| |
| 1 | g.94111506G>T | CA341285492 | ABCA4 | c.234C>A (p.Asn78Lys)
| COSMIC |
| 1 | g.94111507T>A | CA341285493 | ABCA4 | c.233A>T (p.Asn78Ile)
| |
| 1 | g.94111507T>C | CA341285494 | ABCA4 | c.233A>G (p.Asn78Ser)
| ClinVar |
| 1 | g.94111507T>G | CA341285495 | ABCA4 | c.233A>C (p.Asn78Thr)
| |
| 1 | g.94111508T>A | CA341285497 | ABCA4 | c.232A>T (p.Asn78Tyr)
| |
| 1 | g.94111508T>C | CA341285496 | ABCA4 | c.232A>G (p.Asn78Asp)
| gnomAD v4 |
| 1 | g.94111508T>G | CA958892 | ABCA4 | c.232A>C (p.Asn78His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111508T= | CA1142246074 | ABCA4 | c.232A= (p.Asn78=)
| |
| 1 | g.94111509C>A | CA418825873 | ABCA4 | c.231G>T (p.Val77=)
| |
| 1 | g.94111509C>G | CA418825875 | ABCA4 | c.231G>C (p.Val77=)
| |
| 1 | g.94111509C>T | CA418825877 | ABCA4 | c.231G>A (p.Val77=)
| |
| 1 | g.94111510A= | CA1140726130 | ABCA4 | c.230T= (p.Val77=)
| |
| 1 | g.94111510A>C | CA341285498 | ABCA4 | c.230T>G (p.Val77Gly)
| |
| 1 | g.94111510A>G | CA341285499 | ABCA4 | c.230T>C (p.Val77Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111510A>T | CA226991 | ABCA4 | c.230T>A (p.Val77Glu)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.94111511C>A | CA341285500 | ABCA4 | c.229G>T (p.Val77Leu)
| |
| 1 | g.94111511C= | CA1181447810 | ABCA4 | c.229G= (p.Val77=)
| |
| 1 | g.94111511C>G | CA341285501 | ABCA4 | c.229G>C (p.Val77Leu)
| |
| 1 | g.94111511C>T | CA341285502 | ABCA4 | c.229G>A (p.Val77Met)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.94111512A>C | CA341285503 | ABCA4 | c.228T>G (p.Asn76Lys)
| |
| 1 | g.94111512A>G | CA418825881 | ABCA4 | c.228T>C (p.Asn76=)
| dbSNP |
| 1 | g.94111512A>T | CA341285504 | ABCA4 | c.228T>A (p.Asn76Lys)
| |
| 1 | g.94111513T>A | CA341285505 | ABCA4 | c.227A>T (p.Asn76Ile)
| |
| 1 | g.94111513T>C | CA341285506 | ABCA4 | c.227A>G (p.Asn76Ser)
| gnomAD v4 |
| 1 | g.94111513T>G | CA341285507 | ABCA4 | c.227A>C (p.Asn76Thr)
| dbSNP |
| 1 | g.94111513T= | CA1181447811 | ABCA4 | c.227A= (p.Asn76=)
| |
| 1 | g.94111514T>A | CA341285509 | ABCA4 | c.226A>T (p.Asn76Tyr)
| |
| 1 | g.94111514T>C | CA341285510 | ABCA4 | c.226A>G (p.Asn76Asp)
| |
| 1 | g.94111514T>G | CA341285508 | ABCA4 | c.226A>C (p.Asn76His)
| |
| 1 | g.94111515G>A | CA418825887 | ABCA4 | c.225C>T (p.Cys75=)
| |
| 1 | g.94111515G>C | CA341285511 | ABCA4 | c.225C>G (p.Cys75Trp)
| |
| 1 | g.94111515G>T | CA341285512 | ABCA4 | c.225C>A (p.Cys75Ter)
| |
| 1 | g.94111516C>A | CA341285513 | ABCA4 | c.224G>T (p.Cys75Phe)
| |
| 1 | g.94111516C= | CA1181447812 | ABCA4 | c.224G= (p.Cys75=)
| |
| 1 | g.94111516C>G | CA341285514 | ABCA4 | c.224G>C (p.Cys75Ser)
| |
| 1 | g.94111516C>T | CA341285515 | ABCA4 | c.224G>A (p.Cys75Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111517A= | CA1140726134 | ABCA4 | c.223T= (p.Cys75=)
| |
| 1 | g.94111517A>C | CA226985 | ABCA4 | c.223T>G (p.Cys75Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111517A>G | CA341285516 | ABCA4 | c.223T>C (p.Cys75Arg)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.94111517A>T | CA341285517 | ABCA4 | c.223T>A (p.Cys75Ser)
| |
| 1 | g.94111518del | CA2646653637 | ABCA4 | c.222del (p.Cys75AlafsTer3)
| gnomAD v4 |
| 1 | g.94111518G>A | CA418825891 | ABCA4 | c.222C>T (p.Phe74=)
| |
| 1 | g.94111518G>C | CA341285518 | ABCA4 | c.222C>G (p.Phe74Leu)
| |
| 1 | g.94111518G>T | CA341285519 | ABCA4 | c.222C>A (p.Phe74Leu)
| |
| 1 | g.94111519A>C | CA341285520 | ABCA4 | c.221T>G (p.Phe74Cys)
| |
| 1 | g.94111519A>G | CA341285521 | ABCA4 | c.221T>C (p.Phe74Ser)
| |
| 1 | g.94111519A>T | CA341285522 | ABCA4 | c.221T>A (p.Phe74Tyr)
| |
| 1 | g.94111520A>C | CA341285525 | ABCA4 | c.220T>G (p.Phe74Val)
| |
| 1 | g.94111520A>G | CA341285524 | ABCA4 | c.220T>C (p.Phe74Leu)
| |
| 1 | g.94111520A>T | CA341285523 | ABCA4 | c.220T>A (p.Phe74Ile)
| |
| 1 | g.94111521G>A | CA418825894 | ABCA4 | c.219C>T (p.Ile73=)
| ClinVar |
| 1 | g.94111521G>C | CA341285526 | ABCA4 | c.219C>G (p.Ile73Met)
| |
| 1 | g.94111521G>T | CA418825895 | ABCA4 | c.219C>A (p.Ile73=)
| |
| 1 | g.94111522A= | CA1181447813 | ABCA4 | c.218T= (p.Ile73=)
| |
| 1 | g.94111522A>C | CA341285527 | ABCA4 | c.218T>G (p.Ile73Ser)
| |
| 1 | g.94111522A>G | CA26842474 | ABCA4 | c.218T>C (p.Ile73Thr)
| dbSNP gnomAD v4 |
| 1 | g.94111522A>T | CA341285528 | ABCA4 | c.218T>A (p.Ile73Asn)
| |
| 1 | g.94111523T>A | CA341285529 | ABCA4 | c.217A>T (p.Ile73Phe)
| |
| 1 | g.94111523T>C | CA341285530 | ABCA4 | c.217A>G (p.Ile73Val)
| |
| 1 | g.94111523T>G | CA341285531 | ABCA4 | c.217A>C (p.Ile73Leu)
| |
| 1 | g.94111524C>A | CA418825896 | ABCA4 | c.216G>T (p.Gly72=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.94111524C= | CA1181447814 | ABCA4 | c.216G= (p.Gly72=)
| |
| 1 | g.94111524C>G | CA418825897 | ABCA4 | c.216G>C (p.Gly72=)
| |
| 1 | g.94111524C>T | CA418825898 | ABCA4 | c.216G>A (p.Gly72=)
| ClinVar gnomAD v4 |
| 1 | g.94111527dup | CA2586966972 | ABCA4 | c.216dup (p.Ile73AspfsTer26)
| |
| 1 | g.94111525C>A | CA341285532 | ABCA4 | c.215G>T (p.Gly72Val)
| ClinVar dbSNP |
| 1 | g.94111525C>G | CA341285533 | ABCA4 | c.215G>C (p.Gly72Ala)
| |
| 1 | g.94111525C>T | CA341285534 | ABCA4 | c.215G>A (p.Gly72Glu)
| ClinVar COSMIC COSMIC |
| 1 | g.94111526C>A | CA341285535 | ABCA4 | c.214G>T (p.Gly72Trp)
| |
| 1 | g.94111526C= | CA1140726137 | ABCA4 | c.214G= (p.Gly72=)
| |
| 1 | g.94111526C>G | CA341285536 | ABCA4 | c.214G>C (p.Gly72Arg)
| |
| 1 | g.94111526C>T | CA226983 | ABCA4 | c.214G>A (p.Gly72Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111527C>A | CA341285538 | ABCA4 | c.213G>T (p.Gln71His)
| |
| 1 | g.94111527C>G | CA341285537 | ABCA4 | c.213G>C (p.Gln71His)
| |
| 1 | g.94111527C>T | CA418825902 | ABCA4 | c.213G>A (p.Gln71=)
| gnomAD v4 |
| 1 | g.94111528T>A | CA341285539 | ABCA4 | c.212A>T (p.Gln71Leu)
| |
| 1 | g.94111528T>C | CA341285541 | ABCA4 | c.212A>G (p.Gln71Arg)
| dbSNP |
| 1 | g.94111528T>G | CA341285540 | ABCA4 | c.212A>C (p.Gln71Pro)
| dbSNP |
| 1 | g.94111528T= | CA1181447815 | ABCA4 | c.212A= (p.Gln71=)
| |
| 1 | g.94111529G>A | CA341285542 | ABCA4 | c.211C>T (p.Gln71Ter)
| |
| 1 | g.94111529G>C | CA341285543 | ABCA4 | c.211C>G (p.Gln71Glu)
| |
| 1 | g.94111529G>T | CA341285544 | ABCA4 | c.211C>A (p.Gln71Lys)
| |
| 1 | g.94111530G>A | CA418825905 | ABCA4 | c.210C>T (p.Leu70=)
| |
| 1 | g.94111530G>C | CA418825906 | ABCA4 | c.210C>G (p.Leu70=)
| |
| 1 | g.94111530G>T | CA418825907 | ABCA4 | c.210C>A (p.Leu70=)
| |
| 1 | g.94111531A>C | CA341285545 | ABCA4 | c.209T>G (p.Leu70Arg)
| |
| 1 | g.94111531A>G | CA341285546 | ABCA4 | c.209T>C (p.Leu70Pro)
| ClinVar dbSNP |
| 1 | g.94111531A>T | CA341285547 | ABCA4 | c.209T>A (p.Leu70His)
| |
| 1 | g.94111532G>A | CA341285548 | ABCA4 | c.208C>T (p.Leu70Phe)
| |
| 1 | g.94111532G>C | CA341285549 | ABCA4 | c.208C>G (p.Leu70Val)
| |
| 1 | g.94111532G>T | CA341285550 | ABCA4 | c.208C>A (p.Leu70Ile)
| |
| 1 | g.94111533C>A | CA341285551 | ABCA4 | c.207G>T (p.Trp69Cys)
| |
| 1 | g.94111533C>G | CA341285552 | ABCA4 | c.207G>C (p.Trp69Cys)
| |
| 1 | g.94111533C>T | CA341285553 | ABCA4 | c.207G>A (p.Trp69Ter)
| gnomAD v4 |
| 1 | g.94111534C>A | CA341285555 | ABCA4 | c.206G>T (p.Trp69Leu)
| COSMIC |
| 1 | g.94111534C= | CA1181447816 | ABCA4 | c.206G= (p.Trp69=)
| |
| 1 | g.94111534C>G | CA341285554 | ABCA4 | c.206G>C (p.Trp69Ser)
| |
| 1 | g.94111534C>T | CA10602454 | ABCA4 | c.206G>A (p.Trp69Ter)
| ClinVar dbSNP |
| 1 | g.94111535A>C | CA341285556 | ABCA4 | c.205T>G (p.Trp69Gly)
| |
| 1 | g.94111535A>G | CA341285557 | ABCA4 | c.205T>C (p.Trp69Arg)
| dbSNP |
| 1 | g.94111535A>T | CA341285558 | ABCA4 | c.205T>A (p.Trp69Arg)
| |
| 1 | g.94111536C>A | CA418825910 | ABCA4 | c.204G>T (p.Pro68=)
| ClinVar |
| 1 | g.94111536C= | CA1143501059 | ABCA4 | c.204G= (p.Pro68=)
| |
| 1 | g.94111536C>G | CA418825909 | ABCA4 | c.204G>C (p.Pro68=)
| |
| 1 | g.94111536C>T | CA958893 | ABCA4 | c.204G>A (p.Pro68=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94111537G>A | CA226972 | ABCA4 | c.203C>T (p.Pro68Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111537G>C | CA226971 | ABCA4 | c.203C>G (p.Pro68Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94111537G= | CA1140763464 | ABCA4 | c.203C= (p.Pro68=)
| |
| 1 | g.94111537G>T | CA341285559 | ABCA4 | c.203C>A (p.Pro68Gln)
| gnomAD v4 |
| 1 | g.94111538G>A | CA341285560 | ABCA4 | c.202C>T (p.Pro68Ser)
| |
| 1 | g.94111538G>C | CA341285561 | ABCA4 | c.202C>G (p.Pro68Ala)
| |
| 1 | g.94111538G>T | CA341285562 | ABCA4 | c.202C>A (p.Pro68Thr)
| |
| 1 | g.94111539C>A | CA958894 | ABCA4 | c.201G>T (p.Leu67=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94111539C= | CA1181447817 | ABCA4 | c.201G= (p.Leu67=)
| |
| 1 | g.94111539C>G | CA418825911 | ABCA4 | c.201G>C (p.Leu67=)
| |
| 1 | g.94111539C>T | CA958895 | ABCA4 | c.201G>A (p.Leu67=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111540A>C | CA341285565 | ABCA4 | c.200T>G (p.Leu67Arg)
| |
| 1 | g.94111540A>G | CA341285564 | ABCA4 | c.200T>C (p.Leu67Pro)
| |
| 1 | g.94111540A>T | CA341285563 | ABCA4 | c.200T>A (p.Leu67Gln)
| |
| 1 | g.94111541G>A | CA418825915 | ABCA4 | c.199C>T (p.Leu67=)
| gnomAD v4 |
| 1 | g.94111541G>C | CA341285566 | ABCA4 | c.199C>G (p.Leu67Val)
| |
| 1 | g.94111541G>T | CA341285567 | ABCA4 | c.199C>A (p.Leu67Met)
| |
| 1 | g.94111542C>A | CA341285568 | ABCA4 | c.198G>T (p.Met66Ile)
| dbSNP |
| 1 | g.94111542C= | CA1181447818 | ABCA4 | c.198G= (p.Met66=)
| |
| 1 | g.94111542C>G | CA341285569 | ABCA4 | c.198G>C (p.Met66Ile)
| |
| 1 | g.94111542C>T | CA341285570 | ABCA4 | c.198G>A (p.Met66Ile)
| |
| 1 | g.94111543A= | CA1181447819 | ABCA4 | c.197T= (p.Met66=)
| |
| 1 | g.94111543A>C | CA341285571 | ABCA4 | c.197T>G (p.Met66Arg)
| |
| 1 | g.94111543A>G | CA341285572 | ABCA4 | c.197T>C (p.Met66Thr)
| gnomAD v4 |
| 1 | g.94111543A>T | CA958896 | ABCA4 | c.197T>A (p.Met66Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94111544T>A | CA341285573 | ABCA4 | c.196A>T (p.Met66Leu)
| |
| 1 | g.94111544T>C | CA341285574 | ABCA4 | c.196A>G (p.Met66Val)
| |
| 1 | g.94111544T>G | CA341285575 | ABCA4 | c.196A>C (p.Met66Leu)
| |
| 1 | g.94111545T>A | CA418825919 | ABCA4 | c.195A>T (p.Gly65=)
| |
| 1 | g.94111545T>C | CA418825920 | ABCA4 | c.195A>G (p.Gly65=)
| |
| 1 | g.94111545T>G | CA418825921 | ABCA4 | c.195A>C (p.Gly65=)
| |
| 1 | g.94111546C>A | CA958897 | ABCA4 | c.194G>T (p.Gly65Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94111546C= | CA1140763465 | ABCA4 | c.194G= (p.Gly65=)
| |
| 1 | g.94111546C>G | CA341285576 | ABCA4 | c.194G>C (p.Gly65Ala)
| |
| 1 | g.94111546C>T | CA226964 | ABCA4 | c.194G>A (p.Gly65Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94111547del | CA2574438920 | ABCA4 | c.194del (p.Gly65GlufsTer13)
| |
| 1 | g.94111547C>A | CA341285579 | ABCA4 | c.193G>T (p.Gly65Ter)
| |
| 1 | g.94111547C= | CA1181447820 | ABCA4 | c.193G= (p.Gly65=)
| |
| 1 | g.94111547C>G | CA341285578 | ABCA4 | c.193G>C (p.Gly65Arg)
| |
| 1 | g.94111547C>T | CA341285577 | ABCA4 | c.193G>A (p.Gly65Arg)
| ClinVar dbSNP |
| 1 | g.94111548T>A | CA418825922 | ABCA4 | c.192A>T (p.Ala64=)
| |
| 1 | g.94111548T>C | CA418825923 | ABCA4 | c.192A>G (p.Ala64=)
| gnomAD v4 |
| 1 | g.94111548T>G | CA418825924 | ABCA4 | c.192A>C (p.Ala64=)
| |
| 1 | g.94111549G>A | CA341285580 | ABCA4 | c.191C>T (p.Ala64Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111549G>C | CA341285581 | ABCA4 | c.191C>G (p.Ala64Gly)
| |
| 1 | g.94111549G= | CA1181447821 | ABCA4 | c.191C= (p.Ala64=)
| |
| 1 | g.94111549G>T | CA341285582 | ABCA4 | c.191C>A (p.Ala64Glu)
| gnomAD v4 |
| 1 | g.94111550C>A | CA341285583 | ABCA4 | c.190G>T (p.Ala64Ser)
| |
| 1 | g.94111550C= | CA1181447822 | ABCA4 | c.190G= (p.Ala64=)
| |
| 1 | g.94111550C>G | CA341285584 | ABCA4 | c.190G>C (p.Ala64Pro)
| dbSNP |
| 1 | g.94111550C>T | CA341285585 | ABCA4 | c.190G>A (p.Ala64Thr)
| |
| 1 | g.94111551T>A | CA418825926 | ABCA4 | c.189A>T (p.Ser63=)
| ClinVar |
| 1 | g.94111551T>C | CA418825927 | ABCA4 | c.189A>G (p.Ser63=)
| |
| 1 | g.94111551T>G | CA418825928 | ABCA4 | c.189A>C (p.Ser63=)
| |
| 1 | g.94111552G>A | CA341285586 | ABCA4 | c.188C>T (p.Ser63Leu)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.94111552G>C | CA341285587 | ABCA4 | c.188C>G (p.Ser63Ter)
| |
| 1 | g.94111552G>T | CA341285588 | ABCA4 | c.188C>A (p.Ser63Ter)
| |
| 1 | g.94111553A>C | CA341285589 | ABCA4 | c.187T>G (p.Ser63Ala)
| |
| 1 | g.94111553A>G | CA341285590 | ABCA4 | c.187T>C (p.Ser63Pro)
| |
| 1 | g.94111553A>T | CA341285591 | ABCA4 | c.187T>A (p.Ser63Thr)
| |
| 1 | g.94111554G>A | CA418825930 | ABCA4 | c.186C>T (p.Pro62=)
| |
| 1 | g.94111554G>C | CA418825931 | ABCA4 | c.186C>G (p.Pro62=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111554G= | CA1181447823 | ABCA4 | c.186C= (p.Pro62=)
| |
| 1 | g.94111554G>T | CA418825932 | ABCA4 | c.186C>A (p.Pro62=)
| |
| 1 | g.94111555G>A | CA16603771 | ABCA4 | c.185C>T (p.Pro62Leu)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.94111555G>C | CA341285593 | ABCA4 | c.185C>G (p.Pro62Arg)
| |
| 1 | g.94111555G= | CA1181447824 | ABCA4 | c.185C= (p.Pro62=)
| |
| 1 | g.94111555G>T | CA341285592 | ABCA4 | c.185C>A (p.Pro62His)
| |
| 1 | g.94111556G>A | CA341285594 | ABCA4 | c.184C>T (p.Pro62Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111556G>C | CA341285596 | ABCA4 | c.184C>G (p.Pro62Ala)
| ClinVar gnomAD v4 |
| 1 | g.94111556G= | CA1181447825 | ABCA4 | c.184C= (p.Pro62=)
| |
| 1 | g.94111556G>T | CA341285595 | ABCA4 | c.184C>A (p.Pro62Thr)
| ClinVar dbSNP |
| 1 | g.94111557C>A | CA341285597 | ABCA4 | c.183G>T (p.Met61Ile)
| |
| 1 | g.94111557C= | CA1181447826 | ABCA4 | c.183G= (p.Met61=)
| |
| 1 | g.94111557C>G | CA958898 | ABCA4 | c.183G>C (p.Met61Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111557C>T | CA341285598 | ABCA4 | c.183G>A (p.Met61Ile)
| ClinVar |
| 1 | g.94111558A>C | CA341285599 | ABCA4 | c.182T>G (p.Met61Arg)
| |
| 1 | g.94111558A>G | CA341285600 | ABCA4 | c.182T>C (p.Met61Thr)
| ClinVar gnomAD v4 |
| 1 | g.94111558A>T | CA341285601 | ABCA4 | c.182T>A (p.Met61Lys)
| |
| 1 | g.94111559del | CA2646653638 | ABCA4 | c.181del (p.Met61CysfsTer17)
| gnomAD v4 |
| 1 | g.94111559T>A | CA341285602 | ABCA4 | c.181A>T (p.Met61Leu)
| |
| 1 | g.94111559T>C | CA341285603 | ABCA4 | c.181A>G (p.Met61Val)
| gnomAD v4 |
| 1 | g.94111559T>G | CA341285604 | ABCA4 | c.181A>C (p.Met61Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111559T= | CA1181447827 | ABCA4 | c.181A= (p.Met61=)
| |
| 1 | g.94111560del | CA645372150 | ABCA4 | c.180del (p.Met61CysfsTer17)
| ClinVar gnomAD v4 |
| 1 | g.94111560C>A | CA418825937 | ABCA4 | c.180G>T (p.Ala60=)
| |
| 1 | g.94111560C= | CA1181447828 | ABCA4 | c.180G= (p.Ala60=)
| |
| 1 | g.94111560C>G | CA10602455 | ABCA4 | c.180G>C (p.Ala60=)
| ClinVar dbSNP |
| 1 | g.94111560C>T | CA958899 | ABCA4 | c.180G>A (p.Ala60=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94111561G>A | CA226931 | ABCA4 | c.179C>T (p.Ala60Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111561G>C | CA341285605 | ABCA4 | c.179C>G (p.Ala60Gly)
| dbSNP gnomAD v4 |
| 1 | g.94111561G= | CA1140620412 | ABCA4 | c.179C= (p.Ala60=)
| |
| 1 | g.94111561G>T | CA341285606 | ABCA4 | c.179C>A (p.Ala60Glu)
| ClinVar |
| 1 | g.94111562C>A | CA341285608 | ABCA4 | c.178G>T (p.Ala60Ser)
| |
| 1 | g.94111562C= | CA1140726139 | ABCA4 | c.178G= (p.Ala60=)
| |
| 1 | g.94111562C>G | CA341285607 | ABCA4 | c.178G>C (p.Ala60Pro)
| |
| 1 | g.94111562C>T | CA226928 | ABCA4 | c.178G>A (p.Ala60Thr)
| ClinVar dbSNP |
| 1 | g.94111563C>A | CA341285609 | ABCA4 | c.177G>T (p.Lys59Asn)
| |
| 1 | g.94111563C= | CA1144176326 | ABCA4 | c.177G= (p.Lys59=)
| |
| 1 | g.94111563C>G | CA341285610 | ABCA4 | c.177G>C (p.Lys59Asn)
| |
| 1 | g.94111563C>T | CA958900 | ABCA4 | c.177G>A (p.Lys59=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111564T>A | CA341285611 | ABCA4 | c.176A>T (p.Lys59Met)
| |
| 1 | g.94111564T>C | CA341285612 | ABCA4 | c.176A>G (p.Lys59Arg)
| dbSNP |
| 1 | g.94111564T>G | CA341285613 | ABCA4 | c.176A>C (p.Lys59Thr)
| |
| 1 | g.94111564T= | CA1181447829 | ABCA4 | c.176A= (p.Lys59=)
| |
| 1 | g.94111565T>A | CA341285614 | ABCA4 | c.175A>T (p.Lys59Ter)
| |
| 1 | g.94111565T>C | CA341285615 | ABCA4 | c.175A>G (p.Lys59Glu)
| |
| 1 | g.94111565T>G | CA341285616 | ABCA4 | c.175A>C (p.Lys59Gln)
| |
| 1 | g.94111566G>A | CA418825942 | ABCA4 | c.174C>T (p.Asn58=)
| gnomAD v4 |
| 1 | g.94111566G>C | CA226920 | ABCA4 | c.174C>G (p.Asn58Lys)
| ClinVar dbSNP |
| 1 | g.94111566G= | CA1140726143 | ABCA4 | c.174C= (p.Asn58=)
| |
| 1 | g.94111566G>T | CA341285617 | ABCA4 | c.174C>A (p.Asn58Lys)
| |
| 1 | g.94111567T>A | CA341285618 | ABCA4 | c.173A>T (p.Asn58Ile)
| ClinVar |
| 1 | g.94111567T>C | CA341285619 | ABCA4 | c.173A>G (p.Asn58Ser)
| |
| 1 | g.94111567T>G | CA341285620 | ABCA4 | c.173A>C (p.Asn58Thr)
| |
| 1 | g.94111568T>A | CA341285622 | ABCA4 | c.172A>T (p.Asn58Tyr)
| |
| 1 | g.94111568T>C | CA341285623 | ABCA4 | c.172A>G (p.Asn58Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111568T>G | CA341285621 | ABCA4 | c.172A>C (p.Asn58His)
| |
| 1 | g.94111568T= | CA1181447830 | ABCA4 | c.172A= (p.Asn58=)
| |
| 1 | g.94111569G>A | CA418825946 | ABCA4 | c.171C>T (p.Pro57=)
| |
| 1 | g.94111569G>C | CA418825948 | ABCA4 | c.171C>G (p.Pro57=)
| |
| 1 | g.94111569G>T | CA418825947 | ABCA4 | c.171C>A (p.Pro57=)
| |
| 1 | g.94111569_94111570insTT | CA2586966973 | ABCA4 | c.170_171insAA (p.Asn58ThrfsTer21)
| |
| 1 | g.94111570G>A | CA958901 | ABCA4 | c.170C>T (p.Pro57Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94111570G>C | CA341285624 | ABCA4 | c.170C>G (p.Pro57Arg)
| |
| 1 | g.94111570G= | CA1181447831 | ABCA4 | c.170C= (p.Pro57=)
| |
| 1 | g.94111570G>T | CA341285625 | ABCA4 | c.170C>A (p.Pro57His)
| gnomAD v4 |
| 1 | g.94111570delinsTTC | CA2586966974 | ABCA4 | c.170delinsGAA (p.Pro57ArgfsTer22)
| |
| 1 | g.94111571G>A | CA341285626 | ABCA4 | c.169C>T (p.Pro57Ser)
| gnomAD v4 |
| 1 | g.94111571G>C | CA958902 | ABCA4 | c.169C>G (p.Pro57Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94111571G= | CA1181447832 | ABCA4 | c.169C= (p.Pro57=)
| |
| 1 | g.94111571G>T | CA341285627 | ABCA4 | c.169C>A (p.Pro57Thr)
| |
| 1 | g.94111572G>A | CA418825950 | ABCA4 | c.168C>T (p.Phe56=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.94111572G>C | CA341285629 | ABCA4 | c.168C>G (p.Phe56Leu)
| |
| 1 | g.94111572G= | CA1181447833 | ABCA4 | c.168C= (p.Phe56=)
| |
| 1 | g.94111572G>T | CA341285628 | ABCA4 | c.168C>A (p.Phe56Leu)
| |
| 1 | g.94111573A= | CA1148560876 | ABCA4 | c.167T= (p.Phe56=)
| |
| 1 | g.94111573A>C | CA341285630 | ABCA4 | c.167T>G (p.Phe56Cys)
| |
| 1 | g.94111573A>G | CA958903 | ABCA4 | c.167T>C (p.Phe56Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94111573A>T | CA341285631 | ABCA4 | c.167T>A (p.Phe56Tyr)
| |
| 1 | g.94111574A= | CA1181447834 | ABCA4 | c.166T= (p.Phe56=)
| |
| 1 | g.94111574A>C | CA341285632 | ABCA4 | c.166T>G (p.Phe56Val)
| |
| 1 | g.94111574A>G | CA341285633 | ABCA4 | c.166T>C (p.Phe56Leu)
| |
| 1 | g.94111574A>T | CA341285634 | ABCA4 | c.166T>A (p.Phe56Ile)
| ClinVar dbSNP |
| 1 | g.94111575A= | CA1181447835 | ABCA4 | c.165T= (p.His55=)
| |
| 1 | g.94111575A>C | CA341285635 | ABCA4 | c.165T>G (p.His55Gln)
| |
| 1 | g.94111575A>G | CA958904 | ABCA4 | c.165T>C (p.His55=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111575A>T | CA341285636 | ABCA4 | c.165T>A (p.His55Gln)
| |
| 1 | g.94111576T>A | CA341285637 | ABCA4 | c.164A>T (p.His55Leu)
| |
| 1 | g.94111576T>C | CA341285638 | ABCA4 | c.164A>G (p.His55Arg)
| ClinVar |
| 1 | g.94111576T>G | CA341285639 | ABCA4 | c.164A>C (p.His55Pro)
| |
| 1 | g.94111577G>A | CA26842495 | ABCA4 | c.163C>T (p.His55Tyr)
| dbSNP |
| 1 | g.94111577G>C | CA341285640 | ABCA4 | c.163C>G (p.His55Asp)
| |
| 1 | g.94111577G= | CA1149156302 | ABCA4 | c.163C= (p.His55=)
| |
| 1 | g.94111577G>T | CA341285641 | ABCA4 | c.163C>A (p.His55Asn)
| |
| 1 | g.94111577_94111578delinsAA | CA645537257 | ABCA4 | c.162_163delinsTT (p.His55Tyr)
| COSMIC COSMIC |
| 1 | g.94111578G>A | CA418825955 | ABCA4 | c.162C>T (p.Cys54=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.94111578G>C | CA341285642 | ABCA4 | c.162C>G (p.Cys54Trp)
| |
| 1 | g.94111578G>T | CA341285643 | ABCA4 | c.162C>A (p.Cys54Ter)
| gnomAD v4 |
| 1 | g.94111579C>A | CA226909 | ABCA4 | c.161G>T (p.Cys54Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94111579C= | CA1142385108 | ABCA4 | c.161G= (p.Cys54=)
| |
| 1 | g.94111579C>G | CA341285644 | ABCA4 | c.161G>C (p.Cys54Ser)
| |
| 1 | g.94111579C>T | CA226908 | ABCA4 | c.161G>A (p.Cys54Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
