Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47801086C>A | CA426121858 | FBXO11,MSH6 | c.2806C>A (p.Arg936=) c.3103C>A (p.Arg1035=) n.3187C>A c.1606+1497C>A (n.1606+1497C>A) c.3109C>A (p.Arg1037=) c.628-2334C>A (n.628-2334C>A) c.2260C>A (p.Arg754=) c.2713C>A (p.Arg905=) c.169+7109G>T (n.169+7109G>T) c.*124+6908G>T (n.*124+6908G>T) c.*2450C>A (n.*2450C>A) c.2197C>A (p.Arg733=) c.3100C>A (p.Arg1034=) c.7C>A (p.Arg3=) c.2920C>A (p.Arg974=) | dbSNP |
2 | g.47801086C>G | CA346756605 | FBXO11,MSH6 | c.2806C>G (p.Arg936Gly) c.3103C>G (p.Arg1035Gly) n.3187C>G c.1606+1497C>G (n.1606+1497C>G) c.3109C>G (p.Arg1037Gly) c.628-2334C>G (n.628-2334C>G) c.2260C>G (p.Arg754Gly) c.2713C>G (p.Arg905Gly) c.169+7109G>C (n.169+7109G>C) c.*124+6908G>C (n.*124+6908G>C) c.*2450C>G (n.*2450C>G) c.2197C>G (p.Arg733Gly) c.3100C>G (p.Arg1034Gly) c.7C>G (p.Arg3Gly) c.2920C>G (p.Arg974Gly) | dbSNP |
2 | g.47801086C>T | CA011558 | FBXO11,MSH6 | c.2806C>T (p.Arg936Ter) c.3103C>T (p.Arg1035Ter) n.3187C>T c.1606+1497C>T (n.1606+1497C>T) c.3109C>T (p.Arg1037Ter) c.628-2334C>T (n.628-2334C>T) c.2260C>T (p.Arg754Ter) c.2713C>T (p.Arg905Ter) c.169+7109G>A (n.169+7109G>A) c.*124+6908G>A (n.*124+6908G>A) c.*2450C>T (n.*2450C>T) c.2197C>T (p.Arg733Ter) c.3100C>T (p.Arg1034Ter) c.7C>T (p.Arg3Ter) c.2920C>T (p.Arg974Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |