Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.73186869T>GCA225040PSEN1c.497T>G (p.Leu166Arg)
c.485T>G (p.Leu162Arg)
c.221T>G (p.Leu74Arg)
n.497T>G (p.Leu166Arg)
n.485T>G (p.Leu162Arg)
ClinVar dbSNP
14g.73186869T>CCA258123PSEN1c.497T>C (p.Leu166Pro)
c.485T>C (p.Leu162Pro)
c.221T>C (p.Leu74Pro)
n.497T>C (p.Leu166Pro)
n.485T>C (p.Leu162Pro)
ClinVar dbSNP

Number of alleles fetched