| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107704344T>C | CA16609565 | SLC26A4 | c.2048T>C (p.Phe683Ser) c.745+2287T>C n.335T>C c.1970T>C (p.Phe657Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107704344T= | CA1732761745 | SLC26A4 | c.2048T= (p.Phe683=) c.745+2287T= n.335T= c.1970T= (p.Phe657=) | dbSNP |