| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71779351C>T | CA261785 | CDH23 | c.5272C>T (p.Gln1758Ter) c.5287C>T (p.Gln1763Ter) c.5467C>T (p.Gln1823Ter) c.5401C>T (p.Gln1801Ter) c.5464C>T (p.Gln1822Ter) c.5461C>T (p.Gln1821Ter) c.5407C>T (p.Gln1803Ter) c.5332C>T (p.Gln1778Ter) c.4927C>T (p.Gln1643Ter) c.4285C>T (p.Gln1429Ter) c.1795C>T (p.Gln599Ter) n.5710C>T | ClinVar dbSNP gnomAD v4 |
| 10 | g.71779351C= | CA1918875444 | CDH23 | c.5272C= (p.Gln1758=) c.5287C= (p.Gln1763=) c.5467C= (p.Gln1823=) c.5401C= (p.Gln1801=) c.5464C= (p.Gln1822=) c.5461C= (p.Gln1821=) c.5407C= (p.Gln1803=) c.5332C= (p.Gln1778=) c.4927C= (p.Gln1643=) c.4285C= (p.Gln1429=) c.1795C= (p.Gln599=) n.5710C= | dbSNP |