Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47800177C>ACA068593FBXO11,MSH6c.1897C>A (p.Arg633=)
c.2194C>A (p.Arg732=)
n.2278C>A
c.1606+588C>A (n.1606+588C>A)
c.2200C>A (p.Arg734=)
c.628-3243C>A (n.628-3243C>A)
c.1351C>A (p.Arg451=)
c.1804C>A (p.Arg602=)
c.169+8018G>T (n.169+8018G>T)
c.*124+7817G>T (n.*124+7817G>T)
c.*1541C>A (n.*1541C>A)
c.1288C>A (p.Arg430=)
c.2191C>A (p.Arg731=)
c.-903C>A (n.-903C>A)
c.2011C>A (p.Arg671=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47800177C>TCA009856FBXO11,MSH6c.1897C>T (p.Arg633Ter)
c.2194C>T (p.Arg732Ter)
n.2278C>T
c.1606+588C>T (n.1606+588C>T)
c.2200C>T (p.Arg734Ter)
c.628-3243C>T (n.628-3243C>T)
c.1351C>T (p.Arg451Ter)
c.1804C>T (p.Arg602Ter)
c.169+8018G>A (n.169+8018G>A)
c.*124+7817G>A (n.*124+7817G>A)
c.*1541C>T (n.*1541C>T)
c.1288C>T (p.Arg430Ter)
c.2191C>T (p.Arg731Ter)
c.-903C>T (n.-903C>T)
c.2011C>T (p.Arg671Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.47800177C>GCA346751311FBXO11,MSH6c.1897C>G (p.Arg633Gly)
c.2194C>G (p.Arg732Gly)
n.2278C>G
c.1606+588C>G (n.1606+588C>G)
c.2200C>G (p.Arg734Gly)
c.628-3243C>G (n.628-3243C>G)
c.1351C>G (p.Arg451Gly)
c.1804C>G (p.Arg602Gly)
c.169+8018G>C (n.169+8018G>C)
c.*124+7817G>C (n.*124+7817G>C)
c.*1541C>G (n.*1541C>G)
c.1288C>G (p.Arg430Gly)
c.2191C>G (p.Arg731Gly)
c.-903C>G (n.-903C>G)
c.2011C>G (p.Arg671Gly)
 dbSNP

Number of alleles fetched