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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.50915869G>C
CA389688500
PYGL
c.1195C>G (p.Arg399Gly)
n.72C>G
c.1093C>G (p.Arg365Gly)
ClinVar
dbSNP
14
g.50915869G>A
CA341904
PYGL
c.1195C>T (p.Arg399Ter)
n.72C>T
c.1093C>T (p.Arg365Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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