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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102855148G>A
CA229696
PAH
c.694C>T (p.Gln232Ter)
c.679C>T (p.Gln227Ter)
n.790C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.102855148G>C
CA16020842
PAH
c.694C>G (p.Gln232Glu)
c.679C>G (p.Gln227Glu)
n.790C>G
ClinVar
dbSNP
Number of alleles fetched
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