Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71224209T>G | CA16043600 | GJB1 | c.502T>G (p.Cys168Gly) | ClinVar dbSNP |
X | g.71224209T>A | CA413502818 | GJB1 | c.502T>A (p.Cys168Ser) | ClinVar dbSNP |
X | g.71224209T>C | CA413502821 | GJB1 | c.502T>C (p.Cys168Arg) | ClinVar dbSNP |