| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215799066A>G | CA262135 | USH2A | c.9799T>C (p.Cys3267Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799066A>T | CA344849710 | USH2A | c.9799T>A (p.Cys3267Ser) | dbSNP |
| 1 | g.215799066A= | CA1141189281 | USH2A | c.9799T= (p.Cys3267=) | dbSNP |