Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18869035G>TCA118482CERS1,GDF1c.*950C>A (n.*950C>A)
c.681C>A (p.Cys227Ter)
c.*1542C>A (n.*1542C>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869035G>CCA404862584CERS1,GDF1c.*950C>G (n.*950C>G)
c.681C>G (p.Cys227Trp)
c.*1542C>G (n.*1542C>G)
dbSNP
19g.18869035G>ACA506118673CERS1,GDF1c.*950C>T (n.*950C>T)
c.681C>T (p.Cys227=)
c.*1542C>T (n.*1542C>T)
dbSNP gnomAD v4

Number of alleles fetched