Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.57764148G>ACA6658200CYP27B1c.1246C>T (p.Arg416Cys)
c.*170C>T (n.*170C>T)
c.1165C>T (p.Arg389Cys)
c.460C>T (p.Arg154Cys)
n.1304C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57764148G>CCA115134CYP27B1c.1246C>G (p.Arg416Gly)
c.*170C>G (n.*170C>G)
c.1165C>G (p.Arg389Gly)
c.460C>G (p.Arg154Gly)
n.1304C>G
ClinVar dbSNP
12g.57764148G=CA2039016332CYP27B1c.1246C= (p.Arg416=)
c.*170C= (n.*170C=)
c.1165C= (p.Arg389=)
c.460C= (p.Arg154=)
n.1304C=
dbSNP

Number of alleles fetched