| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.30885890C>G | CA7143257 | COCH | c.1250C>G (p.Thr417Ser) c.1055C>G (p.Thr352Ser) c.1112C>G (p.Thr371Ser) n.1357C>G c.719C>G (p.Thr240Ser) c.706C>G n.975G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.30885890C= | CA1630856024 | COCH | c.1250C= (p.Thr417=) c.1055C= (p.Thr352=) c.1112C= (p.Thr371=) n.1357C= c.719C= (p.Thr240=) c.706C= n.975G= | dbSNP |