| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107710192T>C | CA368846153 | SLC26A4 | c.2228T>C (p.Leu743Ser) c.884T>C n.414T>C c.2150T>C (p.Leu717Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107710192T>A | CA16041118 | SLC26A4 | c.2228T>A (p.Leu743Ter) c.884T>A n.414T>A c.2150T>A (p.Leu717Ter) | ClinVar dbSNP |
| 7 | g.107710192T= | CA1732751414 | SLC26A4 | c.2228T= (p.Leu743=) c.884T= n.414T= c.2150T= (p.Leu717=) | dbSNP |