Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.67350267G>CCA400805479PSMD12c.367C>G (p.Arg123Gly)
c.307C>G (p.Arg103Gly)
n.604C>G
c.*522C>G (n.*522C>G)
n.416C>G
c.190C>G (p.Arg64Gly)
c.454C>G (p.Arg152Gly)
n.446C>G
dbSNP gnomAD v2 gnomAD v4
17g.67350267G>ACA400805478PSMD12c.367C>T (p.Arg123Ter)
c.307C>T (p.Arg103Ter)
n.604C>T
c.*522C>T (n.*522C>T)
n.416C>T
c.190C>T (p.Arg64Ter)
c.454C>T (p.Arg152Ter)
n.446C>T
ClinVar dbSNP COSMIC

Number of alleles fetched