Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.107210483G>ACA114833PDSS2c.964C>T (p.Gln322Ter)
c.139C>T (p.Gln47Ter)
c.876+1626C>T (n.876+1626C>T)
c.829C>T (p.Gln277Ter)
c.556C>T (p.Gln186Ter)
c.703-16629C>T (n.703-16629C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107210483G>CCA3945972PDSS2c.964C>G (p.Gln322Glu)
c.139C>G (p.Gln47Glu)
c.876+1626C>G (n.876+1626C>G)
c.829C>G (p.Gln277Glu)
c.556C>G (p.Gln186Glu)
c.703-16629C>G (n.703-16629C>G)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched