Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.5232983A>GCA124671HBDc.425T>C (p.Leu142Pro)
c.316-185T>C (n.316-185T>C)
c.202T>C (p.Trp68Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.5232983A=CA1949563550HBDc.425T= (p.Leu142=)
c.316-185T= (n.316-185T=)
c.202T= (p.Trp68=)
 dbSNP

Number of alleles fetched