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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.81577972C>A
CA353684653
GBE1
c.1571G>T (p.Arg524Leu)
c.1448G>T (p.Arg483Leu)
dbSNP
3
g.81577972C>T
CA115753
GBE1
c.1571G>A (p.Arg524Gln)
c.1448G>A (p.Arg483Gln)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
COSMIC
COSMIC
Number of alleles fetched
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