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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.50910055C>T
CA341912
PYGL
c.2017G>A (p.Glu673Lys)
n.190G>A
c.1915G>A (p.Glu639Lys)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
14
g.50910055C=
CA2136415052
PYGL
c.2017G= (p.Glu673=)
n.190G=
c.1915G= (p.Glu639=)
dbSNP
Number of alleles fetched
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