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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.64750497C>T
CA252204
PYGM
c.2056G>A (p.Gly686Arg)
c.1792G>A (p.Gly598Arg)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
11
g.64750497C=
CA1978913449
PYGM
c.2056G= (p.Gly686=)
c.1792G= (p.Gly598=)
dbSNP
Number of alleles fetched
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