Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.5234193C>TCA124691HBDc.113G>A (p.Trp38Ter)
c.92+149G>A (n.92+149G>A)
ClinVar dbSNP
11g.5234193C>GCA379277123HBDc.113G>C (p.Trp38Ser)
c.92+149G>C (n.92+149G>C)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched