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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.64758668G>A
CA6080314
PYGM
c.280C>T (p.Arg94Trp)
c.244-402C>T (n.244-402C>T)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
11
g.64758668G=
CA1978928555
PYGM
c.280C= (p.Arg94=)
c.244-402C= (n.244-402C=)
dbSNP
Number of alleles fetched
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