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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.74689390A>G
CA116481
HEXB
c.362A>G (p.Lys121Arg)
c.-314A>G (n.-314A>G)
n.427A>G
n.417A>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
5
g.74689390A=
CA1555779622
HEXB
c.362A= (p.Lys121=)
c.-314A= (n.-314A=)
n.427A=
n.417A=
dbSNP
Number of alleles fetched
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