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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.50924101C>G
CA341170
PYGL
c.529-1G>C (n.529-1G>C)
n.596-1G>C
c.427-1G>C (n.427-1G>C)
ClinVar
dbSNP
gnomAD v4
14
g.50924101C=
CA2136423969
PYGL
c.529-1G= (n.529-1G=)
n.596-1G=
c.427-1G= (n.427-1G=)
dbSNP
Number of alleles fetched
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