Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107710170C>T | CA16605106 | SLC26A4 | c.2206C>T (p.Gln736Ter) c.862C>T n.392C>T c.2128C>T (p.Gln710Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107710170C>G | CA368846052 | SLC26A4 | c.2206C>G (p.Gln736Glu) c.862C>G n.392C>G c.2128C>G (p.Gln710Glu) | dbSNP gnomAD v4 |