Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.73192712G>TCA225067PSEN1c.617G>T (p.Gly206Val)
c.605G>T (p.Gly202Val)
c.341G>T (p.Gly114Val)
n.617G>T (p.Gly206Val)
n.605G>T (p.Gly202Val)
ClinVar dbSNP
14g.73192712G>CCA258122PSEN1c.617G>C (p.Gly206Ala)
c.605G>C (p.Gly202Ala)
c.341G>C (p.Gly114Ala)
n.617G>C (p.Gly206Ala)
n.605G>C (p.Gly202Ala)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched