Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71224317C>T | CA413503288 | GJB1 | c.610C>T (p.Leu204Phe) | ClinVar dbSNP |
X | g.71224317C>A | CA16621494 | GJB1 | c.610C>A (p.Leu204Ile) | ClinVar dbSNP |
X | g.71224317C>G | CA413503287 | GJB1 | c.610C>G (p.Leu204Val) | ClinVar dbSNP |