| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107700162G>A | CA261418 | SLC26A4 | c.1694G>A (p.Cys565Tyr) c.405G>A n.541G>A n.543G>A n.77G>A c.1616G>A (p.Cys539Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107700162G= | CA1732757376 | SLC26A4 | c.1694G= (p.Cys565=) c.405G= n.541G= n.543G= n.77G= c.1616G= (p.Cys539=) | dbSNP |