| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71617295C>T | CA16609569 | CDH23 | c.1036C>T (p.Pro346Ser) c.407C>T n.812C>T c.700C>T (p.Pro234Ser) c.1051C>T (p.Pro351Ser) c.787C>T (p.Pro263Ser) c.11C>T c.1171C>T (p.Pro391Ser) c.631C>T (p.Pro211Ser) n.1414C>T | ClinVar dbSNP |
| 10 | g.71617295C= | CA1918795919 | CDH23 | c.1036C= (p.Pro346=) c.407C= n.812C= c.700C= (p.Pro234=) c.1051C= (p.Pro351=) c.787C= (p.Pro263=) c.11C= c.1171C= (p.Pro391=) c.631C= (p.Pro211=) n.1414C= | dbSNP |