Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107690203C>A | CA368839271 | SLC26A4 | c.1229C>A (p.Thr410Lys) | ClinVar dbSNP |
7 | g.107690203C>G | CA368839272 | SLC26A4 | c.1229C>G (p.Thr410Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.107690203C>T | CA261403 | SLC26A4 | c.1229C>T (p.Thr410Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |