Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
1 | g.94041252A>T | CA341290589 | ABCA4 | c.3479T>A (p.Val1160Glu) c.-64-1163T>A (n.-64-1163T>A) | |
1 | g.94041253C>A | CA957930 | ABCA4 | c.3478G>T (p.Val1160Leu) c.-64-1164G>T (n.-64-1164G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94041253C= | CA1148476743 | ABCA4 | c.3478G= (p.Val1160=) c.-64-1164G= (n.-64-1164G=) | |
1 | g.94041253C>G | CA341290591 | ABCA4 | c.3478G>C (p.Val1160Leu) c.-64-1164G>C (n.-64-1164G>C) | |
1 | g.94041253C>T | CA341290592 | ABCA4 | c.3478G>A (p.Val1160Met) c.-64-1164G>A (n.-64-1164G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94041254C>A | CA341290594 | ABCA4 | c.3477G>T (p.Leu1159Phe) c.-64-1165G>T (n.-64-1165G>T) | |
1 | g.94041254C>G | CA341290596 | ABCA4 | c.3477G>C (p.Leu1159Phe) c.-64-1165G>C (n.-64-1165G>C) | gnomAD v4 |
1 | g.94041254C>T | CA418826267 | ABCA4 | c.3477G>A (p.Leu1159=) c.-64-1165G>A (n.-64-1165G>A) | |
1 | g.94041255A= | CA1181420023 | ABCA4 | c.3476T= (p.Leu1159=) c.-64-1166T= (n.-64-1166T=) | |
1 | g.94041255A>C | CA341290609 | ABCA4 | c.3476T>G (p.Leu1159Trp) c.-64-1166T>G (n.-64-1166T>G) | |
1 | g.94041255A>G | CA341290608 | ABCA4 | c.3476T>C (p.Leu1159Ser) c.-64-1166T>C (n.-64-1166T>C) | dbSNP |
1 | g.94041255A>T | CA341290599 | ABCA4 | c.3476T>A (p.Leu1159Ter) c.-64-1166T>A (n.-64-1166T>A) | |
1 | g.94041256A>C | CA341290612 | ABCA4 | c.3475T>G (p.Leu1159Val) c.-64-1167T>G (n.-64-1167T>G) | gnomAD v4 |
1 | g.94041256A>G | CA418826268 | ABCA4 | c.3475T>C (p.Leu1159=) c.-64-1167T>C (n.-64-1167T>C) | |
1 | g.94041256A>T | CA341290616 | ABCA4 | c.3475T>A (p.Leu1159Met) c.-64-1167T>A (n.-64-1167T>A) | |
1 | g.94041257G>A | CA957931 | ABCA4 | c.3474C>T (p.Thr1158=) c.-64-1168C>T (n.-64-1168C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94041257G>C | CA418826270 | ABCA4 | c.3474C>G (p.Thr1158=) c.-64-1168C>G (n.-64-1168C>G) | gnomAD v4 |
1 | g.94041257G= | CA1181420024 | ABCA4 | c.3474C= (p.Thr1158=) c.-64-1168C= (n.-64-1168C=) | |
1 | g.94041257G>T | CA418826272 | ABCA4 | c.3474C>A (p.Thr1158=) c.-64-1168C>A (n.-64-1168C>A) | |
1 | g.94041258G>A | CA341290618 | ABCA4 | c.3473C>T (p.Thr1158Ile) c.-64-1169C>T (n.-64-1169C>T) | |
1 | g.94041258G>C | CA341290619 | ABCA4 | c.3473C>G (p.Thr1158Ser) c.-64-1169C>G (n.-64-1169C>G) | |
1 | g.94041258G= | CA1181420025 | ABCA4 | c.3473C= (p.Thr1158=) c.-64-1169C= (n.-64-1169C=) |