| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.68431328T>C | CA226500 | RPE65 | c.1292A>G (p.Tyr431Cys) c.1016A>G (p.Tyr339Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68431328T>G | CA340742527 | RPE65 | c.1292A>C (p.Tyr431Ser) c.1016A>C (p.Tyr339Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68431328T= | CA1140762641 | RPE65 | c.1292A= (p.Tyr431=) c.1016A= (p.Tyr339=) | dbSNP |