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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.38367331C>T
CA090910
OTC
c.118C>T (p.Arg40Cys)
c.172-298790C>T (n.172-298790C>T)
n.210C>T
ClinVar
dbSNP
gnomAD v2
gnomAD v4
X
g.38367331C=
CA2424870805
OTC
c.118C= (p.Arg40=)
c.172-298790C= (n.172-298790C=)
n.210C=
dbSNP
Number of alleles fetched
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