| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72751896G>A | CA373497671 | TMC1 | c.582G>A (p.Trp194Ter) c.144G>A (p.Trp48Ter) c.456G>A (p.Trp152Ter) n.622G>A n.880G>A c.1170G>A (p.Trp390Ter) c.585G>A (p.Trp195Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.72751896G>T | CA373497676 | TMC1 | c.582G>T (p.Trp194Cys) c.144G>T (p.Trp48Cys) c.456G>T (p.Trp152Cys) n.622G>T n.880G>T c.1170G>T (p.Trp390Cys) c.585G>T (p.Trp195Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.72751896G= | CA1855090110 | TMC1 | c.582G= (p.Trp194=) c.144G= (p.Trp48=) c.456G= (p.Trp152=) n.622G= n.880G= c.1170G= (p.Trp390=) c.585G= (p.Trp195=) | dbSNP |