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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.38367350A>G
CA121291
OTC
c.137A>G (p.Lys46Arg)
c.172-298771A>G (n.172-298771A>G)
n.229A>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
X
g.38367350A=
CA2424870816
OTC
c.137A= (p.Lys46=)
c.172-298771A= (n.172-298771A=)
n.229A=
dbSNP
Number of alleles fetched
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