| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22274605C>T | CA130516 | ANO5 | n.289C>T c.1822C>T (p.Arg608Cys) c.2230C>T (p.Arg744Cys) n.3266C>T c.2227C>T (p.Arg743Cys) c.2272C>T (p.Arg758Cys) n.2607C>T c.2269C>T (p.Arg757Cys) c.2194C>T (p.Arg732Cys) c.2191C>T (p.Arg731Cys) c.2179C>T (p.Arg727Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.22274605C= | CA1957405989 | ANO5 | n.289C= c.1822C= (p.Arg608=) c.2230C= (p.Arg744=) n.3266C= c.2227C= (p.Arg743=) c.2272C= (p.Arg758=) n.2607C= c.2269C= (p.Arg757=) c.2194C= (p.Arg732=) c.2191C= (p.Arg731=) c.2179C= (p.Arg727=) | dbSNP |