| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.30885994C>T | CA10581510 | COCH | c.1354C>T (p.Leu452Phe) c.1159C>T (p.Leu387Phe) c.1216C>T (p.Leu406Phe) n.1461C>T c.823C>T (p.Leu275Phe) c.810C>T n.871G>A | ClinVar dbSNP |
| 14 | g.30885994C= | CA2126958391 | COCH | c.1354C= (p.Leu452=) c.1159C= (p.Leu387=) c.1216C= (p.Leu406=) n.1461C= c.823C= (p.Leu275=) c.810C= n.871G= | dbSNP |