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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102866634T>G
CA229569
PAH
c.471A>C (p.Arg157Ser)
c.456A>C (p.Arg152Ser)
n.567A>C
n.530+10828A>C
ClinVar
dbSNP
12
g.102866634T>C
CA242485488
PAH
c.471A>G (p.Arg157=)
c.456A>G (p.Arg152=)
n.567A>G
n.530+10828A>G
ClinVar
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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