Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71444142T>ACA6162671DHCR7c.172A>T (p.Ile58Phe)
c.99-23A>T (p.=)
c.112A>T (p.Ile38Phe)
dbSNP ExAC gnomAD
11g.71444142T>CCA224280880DHCR7c.172A>G (p.Ile58Val)
c.99-23A>G (p.=)
c.112A>G (p.Ile38Val)
dbSNP gnomAD

Number of alleles fetched