Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.226883747C>TCA1424432PSEN2c.184C>T (p.Arg62Cys)
c.*14C>T (p.=)
n.745C>T
n.622C>T
c.-153-1714C>T (p.=)
c.141+1699C>T (p.=)
c.283C>T (p.Arg95Cys)
c.-21-4344C>T (p.=)
n.283C>T (p.Arg95Cys)
c.-76-1791C>T (p.=)
n.611C>T
n.589C>T
n.932C>T
n.424C>T
ClinVar dbSNP ExAC gnomAD
1g.226883747C>GCA39091512PSEN2c.184C>G (p.Arg62Gly)
c.*14C>G (p.=)
n.745C>G
n.622C>G
c.-153-1714C>G (p.=)
c.141+1699C>G (p.=)
c.283C>G (p.Arg95Gly)
c.-21-4344C>G (p.=)
n.283C>G (p.Arg95Gly)
c.-76-1791C>G (p.=)
n.611C>G
n.589C>G
n.932C>G
n.424C>G
dbSNP

Number of alleles fetched