| 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 |