| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94041228C>A | CA341290462 | ABCA4 | c.3503G>T (p.Ser1168Ile) c.-64-1139G>T (n.-64-1139G>T) | |
| 1 | g.94041228C>G | CA341290463 | ABCA4 | c.3503G>C (p.Ser1168Thr) c.-64-1139G>C (n.-64-1139G>C) | |
| 1 | g.94041228C>T | CA341290465 | ABCA4 | c.3503G>A (p.Ser1168Asn) c.-64-1139G>A (n.-64-1139G>A) | |
| 1 | g.94041229T>A | CA341290468 | ABCA4 | c.3502A>T (p.Ser1168Cys) c.-64-1140A>T (n.-64-1140A>T) | |
| 1 | g.94041229T>C | CA341290467 | ABCA4 | c.3502A>G (p.Ser1168Gly) c.-64-1140A>G (n.-64-1140A>G) | |
| 1 | g.94041229T>G | CA341290466 | ABCA4 | c.3502A>C (p.Ser1168Arg) c.-64-1140A>C (n.-64-1140A>C) | |
| 1 | g.94041229_94041230delinsTC | CA1181420015 | ABCA4 | c.3501_3502delinsGA (p.Gln1167=) c.-64-1141_-64-1140delinsGA (n.-64-1141_-64-1140delinsGA) | |
| 1 | g.94041230del | CA524697485 | ABCA4 | c.3501del (p.Ser1168AlafsTer28) c.-64-1141del (n.-64-1141del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94041230C>A | CA341290472 | ABCA4 | c.3501G>T (p.Gln1167His) c.-64-1141G>T (n.-64-1141G>T) | COSMIC |
| 1 | g.94041230C>G | CA341290470 | ABCA4 | c.3501G>C (p.Gln1167His) c.-64-1141G>C (n.-64-1141G>C) | gnomAD v4 |
| 1 | g.94041230C>T | CA418826239 | ABCA4 | c.3501G>A (p.Gln1167=) c.-64-1141G>A (n.-64-1141G>A) | |
| 1 | g.94041231T>A | CA341290473 | ABCA4 | c.3500A>T (p.Gln1167Leu) c.-64-1142A>T (n.-64-1142A>T) | |
| 1 | g.94041231T>C | CA341290477 | ABCA4 | c.3500A>G (p.Gln1167Arg) c.-64-1142A>G (n.-64-1142A>G) | dbSNP gnomAD v4 |
| 1 | g.94041231T>G | CA341290479 | ABCA4 | c.3500A>C (p.Gln1167Pro) c.-64-1142A>C (n.-64-1142A>C) | |
| 1 | g.94041231T= | CA1181420016 | ABCA4 | c.3500A= (p.Gln1167=) c.-64-1142A= (n.-64-1142A=) | |
| 1 | g.94041232G>A | CA341290481 | ABCA4 | c.3499C>T (p.Gln1167Ter) c.-64-1143C>T (n.-64-1143C>T) | |
| 1 | g.94041232G>C | CA957925 | ABCA4 | c.3499C>G (p.Gln1167Glu) c.-64-1143C>G (n.-64-1143C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94041232G= | CA1181420017 | ABCA4 | c.3499C= (p.Gln1167=) c.-64-1143C= (n.-64-1143C=) | |
| 1 | g.94041232G>T | CA341290482 | ABCA4 | c.3499C>A (p.Gln1167Lys) c.-64-1143C>A (n.-64-1143C>A) | |
| 1 | g.94041233del | CA2586966916 | ABCA4 | c.3499del (p.Gln1167ArgfsTer29) c.-64-1143del (n.-64-1143del) | |
| 1 | g.94041233G>A | CA418826242 | ABCA4 | c.3498C>T (p.Ile1166=) c.-64-1144C>T (n.-64-1144C>T) | |
| 1 | g.94041233G>C | CA341290483 | ABCA4 | c.3498C>G (p.Ile1166Met) c.-64-1144C>G (n.-64-1144C>G) | |
| 1 | g.94041233G>T | CA418826244 | ABCA4 | c.3498C>A (p.Ile1166=) c.-64-1144C>A (n.-64-1144C>A) | |
| 1 | g.94041234A>C | CA341290484 | ABCA4 | c.3497T>G (p.Ile1166Ser) c.-64-1145T>G (n.-64-1145T>G) | |
| 1 | g.94041234A>G | CA341290485 | ABCA4 | c.3497T>C (p.Ile1166Thr) c.-64-1145T>C (n.-64-1145T>C) | |
| 1 | g.94041234A>T | CA341290486 | ABCA4 | c.3497T>A (p.Ile1166Asn) c.-64-1145T>A (n.-64-1145T>A) | |
| 1 | g.94041235T>A | CA341290487 | ABCA4 | c.3496A>T (p.Ile1166Phe) c.-64-1146A>T (n.-64-1146A>T) | |
| 1 | g.94041235T>C | CA341290488 | ABCA4 | c.3496A>G (p.Ile1166Val) c.-64-1146A>G (n.-64-1146A>G) | |
| 1 | g.94041235T>G | CA341290489 | ABCA4 | c.3496A>C (p.Ile1166Leu) c.-64-1146A>C (n.-64-1146A>C) | |
| 1 | g.94041236G>A | CA418826249 | ABCA4 | c.3495C>T (p.Asn1165=) c.-64-1147C>T (n.-64-1147C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94041236G>C | CA341290492 | ABCA4 | c.3495C>G (p.Asn1165Lys) c.-64-1147C>G (n.-64-1147C>G) | |
| 1 | g.94041236G= | CA1181420018 | ABCA4 | c.3495C= (p.Asn1165=) c.-64-1147C= (n.-64-1147C=) | |
| 1 | g.94041236G>T | CA341290490 | ABCA4 | c.3495C>A (p.Asn1165Lys) c.-64-1147C>A (n.-64-1147C>A) | |
| 1 | g.94041237T>A | CA341290494 | ABCA4 | c.3494A>T (p.Asn1165Ile) c.-64-1148A>T (n.-64-1148A>T) | |
| 1 | g.94041237T>C | CA341290495 | ABCA4 | c.3494A>G (p.Asn1165Ser) c.-64-1148A>G (n.-64-1148A>G) | |
| 1 | g.94041237T>G | CA341290497 | ABCA4 | c.3494A>C (p.Asn1165Thr) c.-64-1148A>C (n.-64-1148A>C) | |
| 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) |