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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.58430851T>C
CA122948
PDHB
c.395A>G (p.Tyr132Cys)
c.341A>G (p.Tyr114Cys)
n.508A>G
n.2800A>G
n.487A>G
n.501A>G
ClinVar
dbSNP
gnomAD v4
3
g.58430851T=
CA1367631340
PDHB
c.395A= (p.Tyr132=)
c.341A= (p.Tyr114=)
n.508A=
n.2800A=
n.487A=
n.501A=
dbSNP
Number of alleles fetched
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