| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.80355885C>T | CA16619593 | OTOGL | c.5743C>T (p.Arg1915Ter) c.5608C>T (p.Arg1870Ter) c.1044C>T c.5716C>T (p.Arg1906Ter) c.5680C>T (p.Arg1894Ter) c.5767C>T (p.Arg1923Ter) c.5614C>T (p.Arg1872Ter) c.5401C>T (p.Arg1801Ter) c.5581C>T (p.Arg1861Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.80355885C= | CA2049207226 | OTOGL | c.5743C= (p.Arg1915=) c.5608C= (p.Arg1870=) c.1044C= c.5716C= (p.Arg1906=) c.5680C= (p.Arg1894=) c.5767C= (p.Arg1923=) c.5614C= (p.Arg1872=) c.5401C= (p.Arg1801=) c.5581C= (p.Arg1861=) | dbSNP |