| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72805492G>A | CA10576755 | TMC1 | c.1677G>A (p.Trp559Ter) c.1239G>A (p.Trp413Ter) c.1551G>A (p.Trp517Ter) n.1820G>A n.301G>A c.2265G>A (p.Trp755Ter) c.1680G>A (p.Trp560Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.72805492G= | CA1855113580 | TMC1 | c.1677G= (p.Trp559=) c.1239G= (p.Trp413=) c.1551G= (p.Trp517=) n.1820G= n.301G= c.2265G= (p.Trp755=) c.1680G= (p.Trp560=) | dbSNP |