Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.89971232G>ACA160990NBNc.643C>T (p.Arg215Trp)
c.*516C>T (p.=)
c.397C>T (p.Arg133Trp)
c.379C>T (p.Arg127Trp)
c.619C>T (p.Arg207Trp)
n.780C>T
c.-237C>T (p.=)
ClinVar dbSNP ExAC gnomAD
8g.89971232G>CCA181276776NBNc.643C>G (p.Arg215Gly)
c.*516C>G (p.=)
c.397C>G (p.Arg133Gly)
c.379C>G (p.Arg127Gly)
c.619C>G (p.Arg207Gly)
n.780C>G
c.-237C>G (p.=)
ClinVar dbSNP

Number of alleles fetched