| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.216046532C>T | CA262111 | USH2A | c.6224G>A (p.Trp2075Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216046532C>A | CA344859001 | USH2A | c.6224G>T (p.Trp2075Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216046532C= | CA1141189300 | USH2A | c.6224G= (p.Trp2075=) | dbSNP |
| 1 | g.216046532C>G | CA344859003 | USH2A | c.6224G>C (p.Trp2075Ser) | dbSNP |