Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47801086C>ACA426121858FBXO11,MSH6c.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
2g.47801086C>GCA346756605FBXO11,MSH6c.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
2g.47801086C>TCA011558FBXO11,MSH6c.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

Number of alleles fetched