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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.81648854A>G
CA276004
GBE1
c.691+2T>C (n.691+2T>C)
c.568+2T>C (n.568+2T>C)
n.219+2T>C
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
3
g.81648854A=
CA1378730168
GBE1
c.691+2T= (n.691+2T=)
c.568+2T= (n.568+2T=)
n.219+2T=
dbSNP
Number of alleles fetched
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