| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.45175842C>T | CA7169463 | FANCM | c.1300C>T (p.Arg434Ter) c.2881C>T (p.Arg961Ter) c.2929C>T (p.Arg977Ter) c.*1899C>T (n.*1899C>T) c.3088C>T (p.Arg1030Ter) c.*1113C>T (n.*1113C>T) c.2932C>T (p.Arg978Ter) n.3036C>T c.1086C>T c.1905C>T c.3010C>T (p.Arg1004Ter) c.1636C>T (p.Arg546Ter) c.1102C>T (p.Arg368Ter) c.2125C>T (p.Arg709Ter) c.1903C>T (p.Arg635Ter) n.3180C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.45175842C= | CA2133620031 | FANCM | c.1300C= (p.Arg434=) c.2881C= (p.Arg961=) c.2929C= (p.Arg977=) c.*1899C= (n.*1899C=) c.3088C= (p.Arg1030=) c.*1113C= (n.*1113C=) c.2932C= (p.Arg978=) n.3036C= c.1086C= c.1905C= c.3010C= (p.Arg1004=) c.1636C= (p.Arg546=) c.1102C= (p.Arg368=) c.2125C= (p.Arg709=) c.1903C= (p.Arg635=) n.3180C= | dbSNP |