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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.64754024G>A
CA275527
PYGM
c.1094C>T (p.Ala365Val)
c.830C>T (p.Ala277Val)
n.171C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
11
g.64754024G=
CA1978922637
PYGM
c.1094C= (p.Ala365=)
c.830C= (p.Ala277=)
n.171C=
dbSNP
Number of alleles fetched
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