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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.50937801G>A
CA341922
PYGL
c.280C>T (p.Arg94Ter)
n.347C>T
c.244-2616C>T (n.244-2616C>T)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
14
g.50937801G=
CA2136434917
PYGL
c.280C= (p.Arg94=)
n.347C=
c.244-2616C= (n.244-2616C=)
dbSNP
Number of alleles fetched
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