| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215878776C>A | CA16617056 | USH2A | c.8546G>T (p.Gly2849Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215878776C= | CA1220461509 | USH2A | c.8546G= (p.Gly2849=) | dbSNP |
| 1 | g.215878776C>T | CA344830194 | USH2A | c.8546G>A (p.Gly2849Glu) | ClinVar dbSNP COSMIC COSMIC |