| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47800714C>T | CA010815 | FBXO11,MSH6 | c.2434C>T (p.Arg812Ter) c.2731C>T (p.Arg911Ter) n.2815C>T c.1606+1125C>T (n.1606+1125C>T) c.2737C>T (p.Arg913Ter) c.628-2706C>T (n.628-2706C>T) c.1888C>T (p.Arg630Ter) c.2341C>T (p.Arg781Ter) c.169+7481G>A (n.169+7481G>A) c.*124+7280G>A (n.*124+7280G>A) c.*2078C>T (n.*2078C>T) c.1825C>T (p.Arg609Ter) c.2728C>T (p.Arg910Ter) c.-366C>T (n.-366C>T) c.2548C>T (p.Arg850Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.47800714C>A | CA426121590 | FBXO11,MSH6 | c.2434C>A (p.Arg812=) c.2731C>A (p.Arg911=) n.2815C>A c.1606+1125C>A (n.1606+1125C>A) c.2737C>A (p.Arg913=) c.628-2706C>A (n.628-2706C>A) c.1888C>A (p.Arg630=) c.2341C>A (p.Arg781=) c.169+7481G>T (n.169+7481G>T) c.*124+7280G>T (n.*124+7280G>T) c.*2078C>A (n.*2078C>A) c.1825C>A (p.Arg609=) c.2728C>A (p.Arg910=) c.-366C>A (n.-366C>A) c.2548C>A (p.Arg850=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47800714C>G | CA346755378 | FBXO11,MSH6 | c.2434C>G (p.Arg812Gly) c.2731C>G (p.Arg911Gly) n.2815C>G c.1606+1125C>G (n.1606+1125C>G) c.2737C>G (p.Arg913Gly) c.628-2706C>G (n.628-2706C>G) c.1888C>G (p.Arg630Gly) c.2341C>G (p.Arg781Gly) c.169+7481G>C (n.169+7481G>C) c.*124+7280G>C (n.*124+7280G>C) c.*2078C>G (n.*2078C>G) c.1825C>G (p.Arg609Gly) c.2728C>G (p.Arg910Gly) c.-366C>G (n.-366C>G) c.2548C>G (p.Arg850Gly) | ClinVar dbSNP |
| 2 | g.47800714C= | CA2496049795 | FBXO11,MSH6 | c.2434C= (p.Arg812=) c.2731C= (p.Arg911=) n.2815C= c.1606+1125C= (n.1606+1125C=) c.2737C= (p.Arg913=) c.628-2706C= (n.628-2706C=) c.1888C= (p.Arg630=) c.2341C= (p.Arg781=) c.169+7481G= (n.169+7481G=) c.*124+7280G= (n.*124+7280G=) c.*2078C= (n.*2078C=) c.1825C= (p.Arg609=) c.2728C= (p.Arg910=) c.-366C= (n.-366C=) c.2548C= (p.Arg850=) | dbSNP |