| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72789302G>C | CA5081892 | TMC1 | c.1209G>C (p.Trp403Cys) c.771G>C (p.Trp257Cys) c.1083G>C (p.Trp361Cys) n.1249G>C n.1507G>C c.1797G>C (p.Trp599Cys) c.1212G>C (p.Trp404Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.72789302G>A | CA373505103 | TMC1 | c.1209G>A (p.Trp403Ter) c.771G>A (p.Trp257Ter) c.1083G>A (p.Trp361Ter) n.1249G>A n.1507G>A c.1797G>A (p.Trp599Ter) c.1212G>A (p.Trp404Ter) | ClinVar dbSNP |