| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107695984G>C | CA368841280 | SLC26A4 | c.1489G>C (p.Gly497Arg) c.200G>C n.336G>C n.338G>C n.504G>C c.1411G>C (p.Gly471Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107695984G>A | CA261413 | SLC26A4 | c.1489G>A (p.Gly497Ser) c.200G>A n.336G>A n.338G>A n.504G>A c.1411G>A (p.Gly471Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107695984G= | CA1732753122 | SLC26A4 | c.1489G= (p.Gly497=) c.200G= n.336G= n.338G= n.504G= c.1411G= (p.Gly471=) | dbSNP |