| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.68431376G>A | CA16617183 | RPE65 | c.1244C>T (p.Ala415Val) c.968C>T (p.Ala323Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68431376G= | CA1173558017 | RPE65 | c.1244C= (p.Ala415=) c.968C= (p.Ala323=) | dbSNP |