| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72789258C>T | CA261926 | TMC1 | c.1165C>T (p.Arg389Ter) c.727C>T (p.Arg243Ter) c.1039C>T (p.Arg347Ter) n.1205C>T n.1463C>T c.1753C>T (p.Arg585Ter) c.1168C>T (p.Arg390Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.72789258C= | CA1855106334 | TMC1 | c.1165C= (p.Arg389=) c.727C= (p.Arg243=) c.1039C= (p.Arg347=) n.1205C= n.1463C= c.1753C= (p.Arg585=) c.1168C= (p.Arg390=) | dbSNP |