Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.47846374C>TCA119024VDRc.985G>A (p.Glu329Lys)
c.*987G>A (n.*987G>A)
c.1135G>A (p.Glu379Lys)
c.1054G>A (p.Glu352Lys)
ClinVar dbSNP
12g.47846374C>ACA384515474VDRc.985G>T (p.Glu329Ter)
c.*987G>T (n.*987G>T)
c.1135G>T (p.Glu379Ter)
c.1054G>T (p.Glu352Ter)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched