Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.73173665G>ACA258121PSEN1c.438G>A (p.Met146Ile)
c.426G>A (p.Met142Ile)
c.162G>A (p.Met54Ile)
n.438G>A (p.Met146Ile)
n.426G>A (p.Met142Ile)
c.*382G>A (p.=)
ClinVar dbSNP
14g.73173665G>TCA225023PSEN1c.438G>T (p.Met146Ile)
c.426G>T (p.Met142Ile)
c.162G>T (p.Met54Ile)
n.438G>T (p.Met146Ile)
n.426G>T (p.Met142Ile)
c.*382G>T (p.=)
ClinVar dbSNP

Number of alleles fetched