| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72821017T>C | CA5082097 | TMC1 | c.1939T>C (p.Ser647Pro) c.*379T>C (n.*379T>C) c.1258-5852T>C (n.1258-5852T>C) c.1813T>C (p.Ser605Pro) n.2082T>C c.1501T>C (p.Ser501Pro) n.420T>C n.837T>C c.2527T>C (p.Ser843Pro) c.1942T>C (p.Ser648Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.72821017T= | CA1855120705 | TMC1 | c.1939T= (p.Ser647=) c.*379T= (n.*379T=) c.1258-5852T= (n.1258-5852T=) c.1813T= (p.Ser605=) n.2082T= c.1501T= (p.Ser501=) n.420T= n.837T= c.2527T= (p.Ser843=) c.1942T= (p.Ser648=) | dbSNP |