| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94041354A>G | CA10602437 | ABCA4 | c.3377T>C (p.Leu1126Pro) c.-64-1265T>C (n.-64-1265T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94041354A>T | CA26863766 | ABCA4 | c.3377T>A (p.Leu1126His) c.-64-1265T>A (n.-64-1265T>A) | dbSNP |