| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71793542C>T | CA137541 | CDH23 | c.6614C>T (p.Pro2205Leu) c.6629C>T (p.Pro2210Leu) c.6809C>T (p.Pro2270Leu) c.6743C>T (p.Pro2248Leu) c.6806C>T (p.Pro2269Leu) c.6803C>T (p.Pro2268Leu) c.6749C>T (p.Pro2250Leu) c.6719C>T (p.Pro2240Leu) c.6674C>T (p.Pro2225Leu) c.6269C>T (p.Pro2090Leu) c.5627C>T (p.Pro1876Leu) c.3137C>T (p.Pro1046Leu) n.7052C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.71793542C= | CA1918874631 | CDH23 | c.6614C= (p.Pro2205=) c.6629C= (p.Pro2210=) c.6809C= (p.Pro2270=) c.6743C= (p.Pro2248=) c.6806C= (p.Pro2269=) c.6803C= (p.Pro2268=) c.6749C= (p.Pro2250=) c.6719C= (p.Pro2240=) c.6674C= (p.Pro2225=) c.6269C= (p.Pro2090=) c.5627C= (p.Pro1876=) c.3137C= (p.Pro1046=) n.7052C= | dbSNP |