| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94029515C>T | CA227198 | ABCA4 | c.4469G>A (p.Cys1490Tyr) c.845G>A (p.Cys282Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94029515C= | CA1140726091 | ABCA4 | c.4469G= (p.Cys1490=) c.845G= (p.Cys282=) | dbSNP |
| 1 | g.94029515C>G | CA341284940 | ABCA4 | c.4469G>C (p.Cys1490Ser) c.845G>C (p.Cys282Ser) | dbSNP |