| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215674598C>T | CA262086 | USH2A | c.13313G>A (p.Trp4438Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215674598C= | CA1141189260 | USH2A | c.13313G= (p.Trp4438=) | dbSNP |
| 1 | g.215674598C>G | CA344845756 | USH2A | c.13313G>C (p.Trp4438Ser) | dbSNP |