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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.50944366T>C
CA389699736
PYGL
c.38A>G (p.Gln13Arg)
n.105A>G
dbSNP
gnomAD v4
14
g.50944366T>G
CA341924
PYGL
c.38A>C (p.Gln13Pro)
n.105A>C
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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