| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107698092G>T | CA16041114 | SLC26A4 | c.1595G>T (p.Ser532Ile) c.306G>T n.442G>T n.444G>T c.1517G>T (p.Ser506Ile) | ClinVar dbSNP gnomAD v4 |
| 7 | g.107698092G= | CA1732755323 | SLC26A4 | c.1595G= (p.Ser532=) c.306G= n.442G= n.444G= c.1517G= (p.Ser506=) | dbSNP |
| 7 | g.107698092G>A | CA368841664 | SLC26A4 | c.1595G>A (p.Ser532Asn) c.306G>A n.442G>A n.444G>A c.1517G>A (p.Ser506Asn) | dbSNP gnomAD v4 |