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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.64751331C>T
CA252200
PYGM
c.1963G>A (p.Glu655Lys)
c.1699G>A (p.Glu567Lys)
n.287G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
11
g.64751331C=
CA1978915866
PYGM
c.1963G= (p.Glu655=)
c.1699G= (p.Glu567=)
n.287G=
dbSNP
Number of alleles fetched
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