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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852851del
CA229778
PAH
c.806del (p.Ile269ThrfsTer?)
c.791del (p.Ile264ThrfsTer?)
n.565del
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.102852851A=
CA2059446302
PAH
c.806T= (p.Ile269=)
c.791T= (p.Ile264=)
n.565T=
dbSNP
dbSNP
Number of alleles fetched
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