| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94111446G>A | CA418825767 | ABCA4 | c.294C>T (p.Asn98=) | gnomAD v4 |
| 1 | g.94111446G>C | CA958885 | ABCA4 | c.294C>G (p.Asn98Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111446G= | CA1142034522 | ABCA4 | c.294C= (p.Asn98=) | |
| 1 | g.94111446G>T | CA341285330 | ABCA4 | c.294C>A (p.Asn98Lys) | |
| 1 | g.94111447T>A | CA341285333 | ABCA4 | c.293A>T (p.Asn98Ile) | |
| 1 | g.94111447T>C | CA341285335 | ABCA4 | c.293A>G (p.Asn98Ser) | |
| 1 | g.94111447T>G | CA341285337 | ABCA4 | c.293A>C (p.Asn98Thr) | |
| 1 | g.94111448T>A | CA341285339 | ABCA4 | c.292A>T (p.Asn98Tyr) | |
| 1 | g.94111448T>C | CA341285341 | ABCA4 | c.292A>G (p.Asn98Asp) | |
| 1 | g.94111448T>G | CA341285344 | ABCA4 | c.292A>C (p.Asn98His) | |
| 1 | g.94111449A>C | CA341285349 | ABCA4 | c.291T>G (p.Tyr97Ter) | |
| 1 | g.94111449A>G | CA418825774 | ABCA4 | c.291T>C (p.Tyr97=) | |
| 1 | g.94111449A>T | CA341285347 | ABCA4 | c.291T>A (p.Tyr97Ter) | |
| 1 | g.94111450T>A | CA341285350 | ABCA4 | c.290A>T (p.Tyr97Phe) | |
| 1 | g.94111450T>C | CA958886 | ABCA4 | c.290A>G (p.Tyr97Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94111450T>G | CA341285352 | ABCA4 | c.290A>C (p.Tyr97Ser) | |
| 1 | g.94111450T= | CA1181447787 | ABCA4 | c.290A= (p.Tyr97=) | |
| 1 | g.94111451A>C | CA341285355 | ABCA4 | c.289T>G (p.Tyr97Asp) | |
| 1 | g.94111451A>G | CA341285359 | ABCA4 | c.289T>C (p.Tyr97His) | |
| 1 | g.94111451A>T | CA341285358 | ABCA4 | c.289T>A (p.Tyr97Asn) | |
| 1 | g.94111452G>A | CA418825778 | ABCA4 | c.288C>T (p.Asn96=) | |
| 1 | g.94111452G>C | CA341285361 | ABCA4 | c.288C>G (p.Asn96Lys) | |
| 1 | g.94111452G= | CA1181447788 | ABCA4 | c.288C= (p.Asn96=) | |
| 1 | g.94111452G>T | CA10588305 | ABCA4 | c.288C>A (p.Asn96Lys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94111452_94111453delinsGT | CA1181447789 | ABCA4 | c.287_288delinsAC (p.Asn96=) | |
| 1 | g.94111453T>A | CA341285362 | ABCA4 | c.287A>T (p.Asn96Ile) | ClinVar dbSNP |
| 1 | g.94111453T>C | CA341285363 | ABCA4 | c.287A>G (p.Asn96Ser) | |
| 1 | g.94111453T>G | CA341285366 | ABCA4 | c.287A>C (p.Asn96Thr) | |
| 1 | g.94111455del | CA645372152 | ABCA4 | c.287del (p.Asn96ThrfsTer19) | ClinVar dbSNP |
| 1 | g.94111454T>A | CA341285368 | ABCA4 | c.286A>T (p.Asn96Tyr) | |
| 1 | g.94111454T>C | CA227042 | ABCA4 | c.286A>G (p.Asn96Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111454T>G | CA227041 | ABCA4 | c.286A>C (p.Asn96His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94111454T= | CA1140726113 | ABCA4 | c.286A= (p.Asn96=) | |
| 1 | g.94111455T>A | CA418825785 | ABCA4 | c.285A>T (p.Ser95=) | |
| 1 | g.94111455T>C | CA26842451 | ABCA4 | c.285A>G (p.Ser95=) | dbSNP gnomAD v4 |
| 1 | g.94111455T>G | CA418825783 | ABCA4 | c.285A>C (p.Ser95=) | |
| 1 | g.94111455T= | CA1143973859 | ABCA4 | c.285A= (p.Ser95=) | |
| 1 | g.94111456G>A | CA341285373 | ABCA4 | c.284C>T (p.Ser95Leu) | ClinVar |
| 1 | g.94111456G>C | CA341285375 | ABCA4 | c.284C>G (p.Ser95Ter) | |
| 1 | g.94111456G>T | CA341285377 | ABCA4 | c.284C>A (p.Ser95Ter) | gnomAD v4 |
| 1 | g.94111457A= | CA1181447790 | ABCA4 | c.283T= (p.Ser95=) | |
| 1 | g.94111457A>C | CA341285384 | ABCA4 | c.283T>G (p.Ser95Ala) | gnomAD v4 |
| 1 | g.94111457A>G | CA341285380 | ABCA4 | c.283T>C (p.Ser95Pro) | dbSNP gnomAD v4 |
| 1 | g.94111457A>T | CA341285381 | ABCA4 | c.283T>A (p.Ser95Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94111458C>A | CA418825787 | ABCA4 | c.282G>T (p.Val94=) | |
| 1 | g.94111458C= | CA1181447791 | ABCA4 | c.282G= (p.Val94=) | |
| 1 | g.94111458C>G | CA418825789 | ABCA4 | c.282G>C (p.Val94=) | |
| 1 | g.94111458C>T | CA418825788 | ABCA4 | c.282G>A (p.Val94=) | dbSNP gnomAD v2 |
| 1 | g.94111459A= | CA1181447792 | ABCA4 | c.281T= (p.Val94=) | |
| 1 | g.94111459A>C | CA341285386 | ABCA4 | c.281T>G (p.Val94Gly) |