Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189407C>T | CA127035 | GJB2 | c.175G>A (p.Gly59Ser) | ClinVar dbSNP |
13 | g.20189407C>G | CA387461703 | GJB2 | c.175G>C (p.Gly59Arg) | ClinVar dbSNP |
13 | g.20189407C= | CA2077140098 | GJB2 | c.175G= (p.Gly59=) | dbSNP |