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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.50916718T>C
CA342908
PYGL
c.1016A>G (p.Asn339Ser)
c.914A>G (p.Asn305Ser)
ClinVar
dbSNP
gnomAD v4
14
g.50916718T=
CA2136419724
PYGL
c.1016A= (p.Asn339=)
c.914A= (p.Asn305=)
dbSNP
Number of alleles fetched
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