| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.68429927C>A | CA902151 | RPE65 | c.1451G>T (p.Gly484Val) c.1175G>T (p.Gly392Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68429927C>T | CA226517 | RPE65 | c.1451G>A (p.Gly484Asp) c.1175G>A (p.Gly392Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68429927C>G | CA340741537 | RPE65 | c.1451G>C (p.Gly484Ala) c.1175G>C (p.Gly392Ala) | dbSNP gnomAD v4 |
| 1 | g.68429927C= | CA1140763381 | RPE65 | c.1451G= (p.Gly484=) c.1175G= (p.Gly392=) | dbSNP |