Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.136659047T>CCA414755569CD40LGc.*36T>C (n.*36T>C)
c.165T>C (p.Ser55=)
n.2386T>C
n.3221T>C
c.418T>C (p.Trp140Arg)
c.355T>C (p.Trp119Arg)
ClinVar dbSNP
Xg.136659047T>GCA255754CD40LGc.*36T>G (n.*36T>G)
c.165T>G (p.Ser55Arg)
n.2386T>G
n.3221T>G
c.418T>G (p.Trp140Gly)
c.355T>G (p.Trp119Gly)
ClinVar dbSNP

Number of alleles fetched