Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112819272C>ACA10578311APCc.1240C>A (p.Arg414Ser)
c.1186C>A (p.Arg396Ser)
c.1270C>A (p.Arg424Ser)
c.1165C>A (p.Arg389Ser)
c.1156C>A (p.Arg386Ser)
c.1063C>A (p.Arg355Ser)
c.967C>A (p.Arg323Ser)
c.937C>A (p.Arg313Ser)
c.862C>A (p.Arg288Ser)
c.760C>A (p.Arg254Ser)
c.391C>A (p.Arg131Ser)
c.*562C>A (p.=)
ClinVar dbSNP gnomAD
5g.112819272C>TCA004103APCc.1240C>T (p.Arg414Cys)
c.1186C>T (p.Arg396Cys)
c.1270C>T (p.Arg424Cys)
c.1165C>T (p.Arg389Cys)
c.1156C>T (p.Arg386Cys)
c.1063C>T (p.Arg355Cys)
c.967C>T (p.Arg323Cys)
c.937C>T (p.Arg313Cys)
c.862C>T (p.Arg288Cys)
c.760C>T (p.Arg254Cys)
c.391C>T (p.Arg131Cys)
c.*562C>T (p.=)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched