Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107689054T>C | CA253316 | SLC26A4 | c.1003T>C (p.Phe335Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107689054T>G | CA368838305 | SLC26A4 | c.1003T>G (p.Phe335Val) | ClinVar dbSNP gnomAD v4 |
7 | g.107689054T>A | CA4432661 | SLC26A4 | c.1003T>A (p.Phe335Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |