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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102855224G>T
CA6748887
PAH
c.618C>A (p.Tyr206Ter)
c.603C>A (p.Tyr201Ter)
n.714C>A
ClinVar
dbSNP
ExAC
gnomAD v2
12
g.102855224G>C
CA229662
PAH
c.618C>G (p.Tyr206Ter)
c.603C>G (p.Tyr201Ter)
n.714C>G
ClinVar
dbSNP
Number of alleles fetched
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