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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.50921030C>T
CA341926
PYGL
c.698G>A (p.Gly233Asp)
c.596G>A (p.Gly199Asp)
n.499G>A
ClinVar
dbSNP
gnomAD v2
gnomAD v4
14
g.50921030C=
CA2136421574
PYGL
c.698G= (p.Gly233=)
c.596G= (p.Gly199=)
n.499G=
dbSNP
Number of alleles fetched
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