| 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 |
| 1 | g.94111580C>A | CA341285645 | ABCA4 | c.161-1G>T (n.161-1G>T)
| |
| 1 | g.94111580C= | CA1181447836 | ABCA4 | c.161-1G= (n.161-1G=)
| |
| 1 | g.94111580C>G | CA341285647 | ABCA4 | c.161-1G>C (n.161-1G>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111580C>T | CA341285646 | ABCA4 | c.161-1G>A (n.161-1G>A)
| ClinVar |
| 1 | g.94111581T>A | CA341285648 | ABCA4 | c.161-2A>T (n.161-2A>T)
| |
| 1 | g.94111581T>C | CA341285650 | ABCA4 | c.161-2A>G (n.161-2A>G)
| |
| 1 | g.94111581T>G | CA341285649 | ABCA4 | c.161-2A>C (n.161-2A>C)
| |
| 1 | g.94111584A>G | CA2586966976 | ABCA4 | c.161-5T>C (n.161-5T>C)
| |
| 1 | g.94111587del | CA2574438921 | ABCA4 | c.161-5del (n.161-5del)
| |
| 1 | g.94111586A= | CA1148113025 | ABCA4 | c.161-7T= (n.161-7T=)
| |
| 1 | g.94111586A>G | CA958905 | ABCA4 | c.161-7T>C (n.161-7T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111587A>G | CA2646653639 | ABCA4 | c.161-8T>C (n.161-8T>C)
| dbSNP gnomAD v4 |
| 1 | g.94111588C= | CA1181447838 | ABCA4 | c.161-9G= (n.161-9G=)
| |
| 1 | g.94111588C>G | CA1004564268 | ABCA4 | c.161-9G>C (n.161-9G>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111588_94111590delinsCAG | CA1181447837 | ABCA4 | c.161-11_161-9delinsCTG (n.161-11_161-9delinsCTG)
| |
| 1 | g.94111590_94111591del | CA958906 | ABCA4 | c.161-11_161-10del (n.161-11_161-10del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94111591A= | CA1181447839 | ABCA4 | c.161-12T= (n.161-12T=)
| |
| 1 | g.94111591A>C | CA26842499 | ABCA4 | c.161-12T>G (n.161-12T>G)
| dbSNP gnomAD v4 |
| 1 | g.94111593A>C | CA2646653640 | ABCA4 | c.161-14T>G (n.161-14T>G)
| gnomAD v4 |
| 1 | g.94111593A>G | CA2574438922 | ABCA4 | c.161-14T>C (n.161-14T>C)
| |
| 1 | g.94111594A>G | CA2696612052 | ABCA4 | c.161-15T>C (n.161-15T>C)
| dbSNP |
| 1 | g.94111595T>C | CA1004564272 | ABCA4 | c.161-16A>G (n.161-16A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111595T>G | CA740489499 | ABCA4 | c.161-16A>C (n.161-16A>C)
| dbSNP |
| 1 | g.94111595T= | CA1181447840 | ABCA4 | c.161-16A= (n.161-16A=)
| |
| 1 | g.94111598G>A | CA2646653641 | ABCA4 | c.161-19C>T (n.161-19C>T)
| gnomAD v4 |
| 1 | g.94111598G>C | CA958907 | ABCA4 | c.161-19C>G (n.161-19C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111598G= | CA1143952100 | ABCA4 | c.161-19C= (n.161-19C=)
| |
| 1 | g.94111599G>A | CA2646653642 | ABCA4 | c.161-20C>T (n.161-20C>T)
| ClinVar gnomAD v4 |
| 1 | g.94111600A= | CA1181447841 | ABCA4 | c.161-21T= (n.161-21T=)
| |
| 1 | g.94111600A>G | CA1181447842 | ABCA4 | c.161-21T>C (n.161-21T>C)
| dbSNP gnomAD v4 |
| 1 | g.94111601C>G | CA2646653643 | ABCA4 | c.161-22G>C (n.161-22G>C)
| gnomAD v4 |
| 1 | g.94111602A>C | CA2586966977 | ABCA4 | c.161-23T>G (n.161-23T>G)
| |
| 1 | g.94111602A>T | CA2580063382 | ABCA4 | c.161-23T>A (n.161-23T>A)
| ClinVar |
| 1 | g.94111603A>C | CA2646653644 | ABCA4 | c.161-24T>G (n.161-24T>G)
| gnomAD v4 |
| 1 | g.94111604G>A | CA26842502 | ABCA4 | c.161-25C>T (n.161-25C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111604G= | CA1145248035 | ABCA4 | c.161-25C= (n.161-25C=)
| |
| 1 | g.94111604G>T | CA2646653645 | ABCA4 | c.161-25C>A (n.161-25C>A)
| gnomAD v4 |
| 1 | g.94111606C= | CA1149107986 | ABCA4 | c.161-27G= (n.161-27G=)
| |
| 1 | g.94111606C>T | CA958908 | ABCA4 | c.161-27G>A (n.161-27G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111607G>A | CA958909 | ABCA4 | c.161-28C>T (n.161-28C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111607G= | CA1144121986 | ABCA4 | c.161-28C= (n.161-28C=)
| |
| 1 | g.94111609del | CA2574438923 | ABCA4 | c.161-28del (n.161-28del)
| gnomAD v4 |
| 1 | g.94111608G= | CA1181447843 | ABCA4 | c.161-29C= (n.161-29C=)
| |
| 1 | g.94111608G>T | CA1181447844 | ABCA4 | c.161-29C>A (n.161-29C>A)
| dbSNP |
| 1 | g.94111609G>A | CA740489508 | ABCA4 | c.161-30C>T (n.161-30C>T)
| dbSNP gnomAD v4 |
| 1 | g.94111609G>C | CA524384879 | ABCA4 | c.161-30C>G (n.161-30C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111609G= | CA1181447845 | ABCA4 | c.161-30C= (n.161-30C=)
| |
| 1 | g.94111614G>A | CA26842505 | ABCA4 | c.161-35C>T (n.161-35C>T)
| dbSNP |
| 1 | g.94111614G= | CA1181447846 | ABCA4 | c.161-35C= (n.161-35C=)
| |
| 1 | g.94111615T>C | CA26842506 | ABCA4 | c.161-36A>G (n.161-36A>G)
| dbSNP |
| 1 | g.94111615T= | CA1181447847 | ABCA4 | c.161-36A= (n.161-36A=)
| |
| 1 | g.94111618del | CA2744621190 | ABCA4 | c.161-39del (n.161-39del)
| |
| 1 | g.94111618T>C | CA524384880 | ABCA4 | c.161-39A>G (n.161-39A>G)
| dbSNP gnomAD v2 |
| 1 | g.94111618T= | CA1181447848 | ABCA4 | c.161-39A= (n.161-39A=)
| |
| 1 | g.94111619G>A | CA2646653646 | ABCA4 | c.161-40C>T (n.161-40C>T)
| gnomAD v4 |
| 1 | g.94111620G>C | CA2646653647 | ABCA4 | c.161-41C>G (n.161-41C>G)
| gnomAD v4 |
| 1 | g.94111620G= | CA1181447850 | ABCA4 | c.161-41C= (n.161-41C=)
| |
| 1 | g.94111620G>T | CA524384881 | ABCA4 | c.161-41C>A (n.161-41C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94111620_94111636delinsGAGACCAAGCAGGATGC | CA1181447849 | ABCA4 | c.161-57_161-41delinsGCATCCTGCTTGGTCTC (n.161-57_161-41delinsGCATCCTGCTTGGTCTC)
| |
| 1 | g.94111621A>G | CA2646653648 | ABCA4 | c.161-42T>C (n.161-42T>C)
| gnomAD v4 |
| 1 | g.94111626_94111641del | CA958910 | ABCA4 | c.161-57_161-42del (n.161-57_161-42del)
| dbSNP ExAC gnomAD v2 |
| 1 | g.94111622G>C | CA958911 | ABCA4 | c.161-43C>G (n.161-43C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111622G= | CA1143774231 | ABCA4 | c.161-43C= (n.161-43C=)
| |
| 1 | g.94111623A= | CA1181447851 | ABCA4 | c.161-44T= (n.161-44T=)
| |
| 1 | g.94111623A>G | CA958912 | ABCA4 | c.161-44T>C (n.161-44T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94111624C>A | CA226905 | ABCA4 | c.161-45G>T (n.161-45G>T)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.94111624C= | CA1140726145 | ABCA4 | c.161-45G= (n.161-45G=)
| |
| 1 | g.94111624C>G | CA2744621191 | ABCA4 | c.161-45G>C (n.161-45G>C)
| |
| 1 | g.94111625C>T | CA2646653649 | ABCA4 | c.161-46G>A (n.161-46G>A)
| gnomAD v4 |
| 1 | g.94111626A= | CA1143356359 | ABCA4 | c.161-47T= (n.161-47T=)
| |
| 1 | g.94111626A>C | CA524384884 | ABCA4 | c.161-47T>G (n.161-47T>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94111626A>G | CA26842510 | ABCA4 | c.161-47T>C (n.161-47T>C)
| dbSNP gnomAD v4 |
| 1 | g.94111628G>A | CA1004564281 | ABCA4 | c.161-49C>T (n.161-49C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111628G= | CA1181447852 | ABCA4 | c.161-49C= (n.161-49C=)
| |
| 1 | g.94111628G>T | CA2646653650 | ABCA4 | c.161-49C>A (n.161-49C>A)
| gnomAD v4 |
| 1 | g.94111631G>A | CA2740161260 | ABCA4 | c.161-52C>T (n.161-52C>T)
| |
| 1 | g.94111632G>A | CA26842511 | ABCA4 | c.161-53C>T (n.161-53C>T)
| dbSNP gnomAD v4 |
| 1 | g.94111632G= | CA1181447853 | ABCA4 | c.161-53C= (n.161-53C=)
| |
| 1 | g.94111632G>T | CA2646653651 | ABCA4 | c.161-53C>A (n.161-53C>A)
| gnomAD v4 |
| 1 | g.94111635_94111636insACT | CA2744621192 | ABCA4 | c.161-57_161-56insAGT (n.161-57_161-56insAGT)
| |
| 1 | g.94111636C>G | CA2646653652 | ABCA4 | c.161-57G>C (n.161-57G>C)
| gnomAD v4 |
| 1 | g.94111636C>T | CA2646653653 | ABCA4 | c.161-57G>A (n.161-57G>A)
| gnomAD v4 |
| 1 | g.94111638G>A | CA2646653654 | ABCA4 | c.161-59C>T (n.161-59C>T)
| gnomAD v4 |
| 1 | g.94111638G>T | CA2646653655 | ABCA4 | c.161-59C>A (n.161-59C>A)
| gnomAD v4 |
| 1 | g.94111640_94111641insACA | CA2744621194 | ABCA4 | c.161-62_161-61insTGT (n.161-62_161-61insTGT)
| |
| 1 | g.94111641_94111645del | CA2744621195 | ABCA4 | c.161-66_161-62del (n.161-66_161-62del)
| |
| 1 | g.94111642T>C | CA2646653656 | ABCA4 | c.161-63A>G (n.161-63A>G)
| gnomAD v4 |
| 1 | g.94111644G>A | CA2646653657 | ABCA4 | c.161-65C>T (n.161-65C>T)
| gnomAD v4 |
| 1 | g.94111644G>C | CA1181447854 | ABCA4 | c.161-65C>G (n.161-65C>G)
| dbSNP |
| 1 | g.94111644G= | CA1181447855 | ABCA4 | c.161-65C= (n.161-65C=)
| |
| 1 | g.94111645G>A | CA1004564282 | ABCA4 | c.161-66C>T (n.161-66C>T)
| dbSNP gnomAD v4 |
| 1 | g.94111645G>C | CA1004564283 | ABCA4 | c.161-66C>G (n.161-66C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111645G= | CA1181447856 | ABCA4 | c.161-66C= (n.161-66C=)
| |
| 1 | g.94111645_94111646insGGA | CA2646653658 | ABCA4 | c.161-67_161-66insTCC (n.161-67_161-66insTCC)
| gnomAD v4 |
| 1 | g.94111646A= | CA1181447857 | ABCA4 | c.161-67T= (n.161-67T=)
| |
| 1 | g.94111646A>G | CA2574438924 | ABCA4 | c.161-67T>C (n.161-67T>C)
| |
| 1 | g.94111646A>T | CA1181447858 | ABCA4 | c.161-67T>A (n.161-67T>A)
| dbSNP |
| 1 | g.94111646dup | CA2744621196 | ABCA4 | c.161-67dup (n.161-67dup)
| |
| 1 | g.94111646_94111647insACAC | CA2744621197 | ABCA4 | c.161-68_161-67insGTGT (n.161-68_161-67insGTGT)
| |
| 1 | g.94111647G>A | CA26842512 | ABCA4 | c.161-68C>T (n.161-68C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111647G= | CA1146308871 | ABCA4 | c.161-68C= (n.161-68C=)
| |
| 1 | g.94111647G>T | CA26842514 | ABCA4 | c.161-68C>A (n.161-68C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111647_94111648insGTCTTTTTTTTTT | CA2646653659 | ABCA4 | c.161-69_161-68insAAAAAAAAAAGAC (n.161-69_161-68insAAAAAAAAAAGAC)
| gnomAD v4 |
| 1 | g.94111648T>A | CA2744621198 | ABCA4 | c.161-69A>T (n.161-69A>T)
| |
| 1 | g.94111648T>C | CA26842515 | ABCA4 | c.161-69A>G (n.161-69A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111648T>G | CA524384885 | ABCA4 | c.161-69A>C (n.161-69A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111648T= | CA1181447859 | ABCA4 | c.161-69A= (n.161-69A=)
| |
