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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.38367340C>A
CA327925152
OTC
c.127C>A (p.Leu43Ile)
c.172-298781C>A (n.172-298781C>A)
n.219C>A
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.38367340C>T
CA224457
OTC
c.127C>T (p.Leu43Phe)
c.172-298781C>T (n.172-298781C>T)
n.219C>T
ClinVar
dbSNP
Number of alleles fetched
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