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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102866601G>T
CA267656
PAH
c.504C>A (p.Tyr168Ter)
c.489C>A (p.Tyr163Ter)
n.600C>A
n.530+10861C>A
ClinVar
dbSNP
12
g.102866601G>A
CA481332086
PAH
c.504C>T (p.Tyr168=)
c.489C>T (p.Tyr163=)
n.600C>T
n.530+10861C>T
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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