| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107704363del | CA16041117 | SLC26A4 | c.2067del (p.Asn689LysfsTer11) c.745+2306del n.354del c.1989del (p.Asn663LysfsTer11) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107704363T= | CA1732761790 | SLC26A4 | c.2067T= (p.Asn689=) c.745+2306T= n.354T= c.1989T= (p.Asn663=) | dbSNP dbSNP |