| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107698085T>C | CA253313 | SLC26A4 | c.1588T>C (p.Tyr530His) c.299T>C n.435T>C n.437T>C c.1510T>C (p.Tyr504His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107698085T>G | CA368841630 | SLC26A4 | c.1588T>G (p.Tyr530Asp) c.299T>G n.435T>G n.437T>G c.1510T>G (p.Tyr504Asp) | ClinVar dbSNP |
| 7 | g.107698085T= | CA1732755308 | SLC26A4 | c.1588T= (p.Tyr530=) c.299T= n.435T= n.437T= c.1510T= (p.Tyr504=) | dbSNP |