Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189359G>C | CA387461587 | GJB2 | c.223C>G (p.Arg75Gly) | ClinVar dbSNP |
13 | g.20189359G>A | CA257676 | GJB2 | c.223C>T (p.Arg75Trp) | ClinVar dbSNP |
13 | g.20189359G= | CA2077139961 | GJB2 | c.223C= (p.Arg75=) | dbSNP |