Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94041238T>A | CA341290499 | ABCA4 | c.3493A>T (p.Asn1165Tyr) c.-64-1149A>T (n.-64-1149A>T) | |
1 | g.94041238T>C | CA341290500 | ABCA4 | c.3493A>G (p.Asn1165Asp) c.-64-1149A>G (n.-64-1149A>G) | gnomAD v4 |
1 | g.94041238T>G | CA341290503 | ABCA4 | c.3493A>C (p.Asn1165His) c.-64-1149A>C (n.-64-1149A>C) | |
1 | g.94041239T>A | CA341290505 | ABCA4 | c.3492A>T (p.Lys1164Asn) c.-64-1150A>T (n.-64-1150A>T) | gnomAD v4 |
1 | g.94041239T>C | CA418826250 | ABCA4 | c.3492A>G (p.Lys1164=) c.-64-1150A>G (n.-64-1150A>G) | |
1 | g.94041239T>G | CA341290506 | ABCA4 | c.3492A>C (p.Lys1164Asn) c.-64-1150A>C (n.-64-1150A>C) | |
1 | g.94041240T>A | CA341290508 | ABCA4 | c.3491A>T (p.Lys1164Ile) c.-64-1151A>T (n.-64-1151A>T) | |
1 | g.94041240T>C | CA341290512 | ABCA4 | c.3491A>G (p.Lys1164Arg) c.-64-1151A>G (n.-64-1151A>G) | gnomAD v4 |
1 | g.94041240T>G | CA341290513 | ABCA4 | c.3491A>C (p.Lys1164Thr) c.-64-1151A>C (n.-64-1151A>C) | |
1 | g.94041241T>A | CA341290515 | ABCA4 | c.3490A>T (p.Lys1164Ter) c.-64-1152A>T (n.-64-1152A>T) | |
1 | g.94041241T>C | CA341290516 | ABCA4 | c.3490A>G (p.Lys1164Glu) c.-64-1152A>G (n.-64-1152A>G) | COSMIC |
1 | g.94041241T>G | CA341290517 | ABCA4 | c.3490A>C (p.Lys1164Gln) c.-64-1152A>C (n.-64-1152A>C) | |
1 | g.94041242C>A | CA341290521 | ABCA4 | c.3489G>T (p.Met1163Ile) c.-64-1153G>T (n.-64-1153G>T) | |
1 | g.94041242C>G | CA341290522 | ABCA4 | c.3489G>C (p.Met1163Ile) c.-64-1153G>C (n.-64-1153G>C) | |
1 | g.94041242C>T | CA341290520 | ABCA4 | c.3489G>A (p.Met1163Ile) c.-64-1153G>A (n.-64-1153G>A) | |
1 | g.94041243A= | CA1181420019 | ABCA4 | c.3488T= (p.Met1163=) c.-64-1154T= (n.-64-1154T=) | |
1 | g.94041243A>C | CA341290523 | ABCA4 | c.3488T>G (p.Met1163Arg) c.-64-1154T>G (n.-64-1154T>G) | |
1 | g.94041243A>G | CA957926 | ABCA4 | c.3488T>C (p.Met1163Thr) c.-64-1154T>C (n.-64-1154T>C) | dbSNP ExAC gnomAD v2 |
1 | g.94041243A>T | CA341290524 | ABCA4 | c.3488T>A (p.Met1163Lys) c.-64-1154T>A (n.-64-1154T>A) | |
1 | g.94041244T>A | CA341290527 | ABCA4 | c.3487A>T (p.Met1163Leu) c.-64-1155A>T (n.-64-1155A>T) | |
1 | g.94041244T>C | CA341290529 | ABCA4 | c.3487A>G (p.Met1163Val) c.-64-1155A>G (n.-64-1155A>G) | |
1 | g.94041244T>G | CA341290531 | ABCA4 | c.3487A>C (p.Met1163Leu) c.-64-1155A>C (n.-64-1155A>C) | |
1 | g.94041245C>A | CA341290532 | ABCA4 | c.3486G>T (p.Lys1162Asn) c.-64-1156G>T (n.-64-1156G>T) | |
1 | g.94041245C= | CA1145569392 | ABCA4 | c.3486G= (p.Lys1162=) c.-64-1156G= (n.-64-1156G=) | |
1 | g.94041245C>G | CA341290534 | ABCA4 | c.3486G>C (p.Lys1162Asn) c.-64-1156G>C (n.-64-1156G>C) | |
1 | g.94041245C>T | CA957927 | ABCA4 | c.3486G>A (p.Lys1162=) c.-64-1156G>A (n.-64-1156G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041246T>A | CA341290540 | ABCA4 | c.3485A>T (p.Lys1162Met) c.-64-1157A>T (n.-64-1157A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94041246T>C | CA341290542 | ABCA4 | c.3485A>G (p.Lys1162Arg) c.-64-1157A>G (n.-64-1157A>G) | |
1 | g.94041246T>G | CA341290545 | ABCA4 | c.3485A>C (p.Lys1162Thr) c.-64-1157A>C (n.-64-1157A>C) | |
1 | g.94041246T= | CA1181420020 | ABCA4 | c.3485A= (p.Lys1162=) c.-64-1157A= (n.-64-1157A=) | |
1 | g.94041247T>A | CA341290547 | ABCA4 | c.3484A>T (p.Lys1162Ter) c.-64-1158A>T (n.-64-1158A>T) | |
1 | g.94041247T>C | CA341290557 | ABCA4 | c.3484A>G (p.Lys1162Glu) c.-64-1158A>G (n.-64-1158A>G) | |
1 | g.94041247T>G | CA341290559 | ABCA4 | c.3484A>C (p.Lys1162Gln) c.-64-1158A>C (n.-64-1158A>C) | |
1 | g.94041248G>A | CA418826256 | ABCA4 | c.3483C>T (p.Arg1161=) c.-64-1159C>T (n.-64-1159C>T) | |
1 | g.94041248G>C | CA418826259 | ABCA4 | c.3483C>G (p.Arg1161=) c.-64-1159C>G (n.-64-1159C>G) | |
1 | g.94041248G>T | CA418826258 | ABCA4 | c.3483C>A (p.Arg1161=) c.-64-1159C>A (n.-64-1159C>A) | |
1 | g.94041249C>A | CA341290561 | ABCA4 | c.3482G>T (p.Arg1161Leu) c.-64-1160G>T (n.-64-1160G>T) | |
1 | g.94041249C= | CA1181420021 | ABCA4 | c.3482G= (p.Arg1161=) c.-64-1160G= (n.-64-1160G=) | |
1 | g.94041249C>G | CA341290560 | ABCA4 | c.3482G>C (p.Arg1161Pro) c.-64-1160G>C (n.-64-1160G>C) | gnomAD v4 |
1 | g.94041249C>T | CA957928 | ABCA4 | c.3482G>A (p.Arg1161His) c.-64-1160G>A (n.-64-1160G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041250G>A | CA957929 | ABCA4 | c.3481C>T (p.Arg1161Cys) c.-64-1161C>T (n.-64-1161C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94041250G>C | CA341290576 | ABCA4 | c.3481C>G (p.Arg1161Gly) c.-64-1161C>G (n.-64-1161C>G) | |
1 | g.94041250G= | CA1146256019 | ABCA4 | c.3481C= (p.Arg1161=) c.-64-1161C= (n.-64-1161C=) | |
1 | g.94041250G>T | CA341290578 | ABCA4 | c.3481C>A (p.Arg1161Ser) c.-64-1161C>A (n.-64-1161C>A) | gnomAD v4 |
1 | g.94041251C>A | CA418826260 | ABCA4 | c.3480G>T (p.Val1160=) c.-64-1162G>T (n.-64-1162G>T) | |
1 | g.94041251C= | CA1181420022 | ABCA4 | c.3480G= (p.Val1160=) c.-64-1162G= (n.-64-1162G=) | |
1 | g.94041251C>G | CA418826263 | ABCA4 | c.3480G>C (p.Val1160=) c.-64-1162G>C (n.-64-1162G>C) | |
1 | g.94041251C>T | CA418826264 | ABCA4 | c.3480G>A (p.Val1160=) c.-64-1162G>A (n.-64-1162G>A) | dbSNP gnomAD v4 |
1 | g.94041252A>C | CA341290585 | ABCA4 | c.3479T>G (p.Val1160Gly) c.-64-1163T>G (n.-64-1163T>G) | gnomAD v4 |
1 | g.94041252A>G | CA341290587 | ABCA4 | c.3479T>C (p.Val1160Ala) c.-64-1163T>C (n.-64-1163T>C) |