| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107702050T>A | CA261424 | SLC26A4 | c.2027T>A (p.Leu676Gln) c.738T>A n.314T>A c.1949T>A (p.Leu650Gln) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107702050T>C | CA368843849 | SLC26A4 | c.2027T>C (p.Leu676Pro) c.738T>C n.314T>C c.1949T>C (p.Leu650Pro) | ClinVar dbSNP |
| 7 | g.107702050T= | CA1732759621 | SLC26A4 | c.2027T= (p.Leu676=) c.738T= n.314T= c.1949T= (p.Leu650=) | dbSNP |