Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.73198100A>GCA127837PSEN1c.839A>G (p.Glu280Gly)
c.827A>G (p.Glu276Gly)
c.563A>G (p.Glu188Gly)
n.839A>G (p.Glu280Gly)
n.391A>G
n.827A>G (p.Glu276Gly)
ClinVar dbSNP
14g.73198100A>CCA341491PSEN1c.839A>C (p.Glu280Ala)
c.827A>C (p.Glu276Ala)
c.563A>C (p.Glu188Ala)
n.839A>C (p.Glu280Ala)
n.391A>C
n.827A>C (p.Glu276Ala)
ClinVar dbSNP

Number of alleles fetched