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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852858G>A
CA16020861
PAH
c.799C>T (p.Gln267Ter)
c.784C>T (p.Gln262Ter)
n.558C>T
ClinVar
dbSNP
COSMIC
12
g.102852858G>C
CA229769
PAH
c.799C>G (p.Gln267Glu)
c.784C>G (p.Gln262Glu)
n.558C>G
ClinVar
dbSNP
Number of alleles fetched
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