| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.45166959C>T | CA7169163 | FANCM | c.10C>T (p.Gln4Ter) c.1798C>T (p.Gln600Ter) c.1591C>T (p.Gln531Ter) c.1639C>T (p.Gln547Ter) c.*609C>T (n.*609C>T) n.1746C>T n.2348C>T c.1720C>T (p.Gln574Ter) c.615C>T c.346C>T (p.Gln116Ter) c.835C>T (p.Gln279Ter) c.613C>T (p.Gln205Ter) n.1890C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.45166959C= | CA2133614406 | FANCM | c.10C= (p.Gln4=) c.1798C= (p.Gln600=) c.1591C= (p.Gln531=) c.1639C= (p.Gln547=) c.*609C= (n.*609C=) n.1746C= n.2348C= c.1720C= (p.Gln574=) c.615C= c.346C= (p.Gln116=) c.835C= (p.Gln279=) c.613C= (p.Gln205=) n.1890C= | dbSNP |