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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.78123196T>C
CA120829
PGK1
c.758T>C (p.Ile253Thr)
c.674T>C (p.Ile225Thr)
n.165T>C
ClinVar
dbSNP
gnomAD v2
gnomAD v4
X
g.78123196T=
CA2439140490
PGK1
c.758T= (p.Ile253=)
c.674T= (p.Ile225=)
n.165T=
dbSNP
Number of alleles fetched
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