| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.68440997C>A | CA226557 | RPE65 | c.499G>T (p.Asp167Tyr) c.223G>T (p.Asp75Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68440997C>T | CA340747228 | RPE65 | c.499G>A (p.Asp167Asn) c.223G>A (p.Asp75Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.68440997C= | CA1140725788 | RPE65 | c.499G= (p.Asp167=) c.223G= (p.Asp75=) | dbSNP |
| 1 | g.68440997C>G | CA340747229 | RPE65 | c.499G>C (p.Asp167His) c.223G>C (p.Asp75His) | dbSNP |