Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47801125C>GCA070092FBXO11,MSH6c.2845C>G (p.Gln949Glu)
c.3142C>G (p.Gln1048Glu)
n.3226C>G
c.1606+1536C>G (n.1606+1536C>G)
c.3148C>G (p.Gln1050Glu)
c.628-2295C>G (n.628-2295C>G)
c.2299C>G (p.Gln767Glu)
c.2752C>G (p.Gln918Glu)
c.169+7070G>C (n.169+7070G>C)
c.*124+6869G>C (n.*124+6869G>C)
c.*2489C>G (n.*2489C>G)
c.2236C>G (p.Gln746Glu)
c.3139C>G (p.Gln1047Glu)
c.46C>G (p.Gln16Glu)
c.2959C>G (p.Gln987Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47801125C>ACA346756692FBXO11,MSH6c.2845C>A (p.Gln949Lys)
c.3142C>A (p.Gln1048Lys)
n.3226C>A
c.1606+1536C>A (n.1606+1536C>A)
c.3148C>A (p.Gln1050Lys)
c.628-2295C>A (n.628-2295C>A)
c.2299C>A (p.Gln767Lys)
c.2752C>A (p.Gln918Lys)
c.169+7070G>T (n.169+7070G>T)
c.*124+6869G>T (n.*124+6869G>T)
c.*2489C>A (n.*2489C>A)
c.2236C>A (p.Gln746Lys)
c.3139C>A (p.Gln1047Lys)
c.46C>A (p.Gln16Lys)
c.2959C>A (p.Gln987Lys)
dbSNP
2g.47801125C>TCA011628FBXO11,MSH6c.2845C>T (p.Gln949Ter)
c.3142C>T (p.Gln1048Ter)
n.3226C>T
c.1606+1536C>T (n.1606+1536C>T)
c.3148C>T (p.Gln1050Ter)
c.628-2295C>T (n.628-2295C>T)
c.2299C>T (p.Gln767Ter)
c.2752C>T (p.Gln918Ter)
c.169+7070G>A (n.169+7070G>A)
c.*124+6869G>A (n.*124+6869G>A)
c.*2489C>T (n.*2489C>T)
c.2236C>T (p.Gln746Ter)
c.3139C>T (p.Gln1047Ter)
c.46C>T (p.Gln16Ter)
c.2959C>T (p.Gln987Ter)
ClinVar dbSNP

Number of alleles fetched