Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111410089T>CCA334420940DCXc.310A>G (p.Ile104Val)
c.553A>G (p.Ile185Val)
c.528A>G
n.550A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.111410089T>ACA171929DCXc.310A>T (p.Ile104Phe)
c.553A>T (p.Ile185Phe)
c.528A>T
n.550A>T
 ClinVar dbSNP

Number of alleles fetched