| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71785051T>C | CA253336 | CDH23 | c.5663T>C (p.Phe1888Ser) c.5678T>C (p.Phe1893Ser) c.5858T>C (p.Phe1953Ser) c.5792T>C (p.Phe1931Ser) c.5855T>C (p.Phe1952Ser) c.5852T>C (p.Phe1951Ser) c.5798T>C (p.Phe1933Ser) c.5723T>C (p.Phe1908Ser) c.5318T>C (p.Phe1773Ser) c.4676T>C (p.Phe1559Ser) c.2186T>C (p.Phe729Ser) n.6101T>C | ClinVar dbSNP gnomAD v4 |
| 10 | g.71785051T= | CA1918862478 | CDH23 | c.5663T= (p.Phe1888=) c.5678T= (p.Phe1893=) c.5858T= (p.Phe1953=) c.5792T= (p.Phe1931=) c.5855T= (p.Phe1952=) c.5852T= (p.Phe1951=) c.5798T= (p.Phe1933=) c.5723T= (p.Phe1908=) c.5318T= (p.Phe1773=) c.4676T= (p.Phe1559=) c.2186T= (p.Phe729=) n.6101T= | dbSNP |