| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.68446837C>T | CA226491 | RPE65 | c.118G>A (p.Gly40Ser) c.-32+1787G>A (n.-32+1787G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68446837C= | CA1140725804 | RPE65 | c.118G= (p.Gly40=) c.-32+1787G= (n.-32+1787G=) | dbSNP |
| 1 | g.68446837C>G | CA340749258 | RPE65 | c.118G>C (p.Gly40Arg) c.-32+1787G>C (n.-32+1787G>C) | dbSNP |