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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.81577973G>A
CA115751
GBE1
c.1570C>T (p.Arg524Ter)
c.1447C>T (p.Arg483Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
COSMIC
3
g.81577973G>C
CA353684655
GBE1
c.1570C>G (p.Arg524Gly)
c.1447C>G (p.Arg483Gly)
ClinVar
dbSNP
Number of alleles fetched
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