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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852843C>A
CA251532
PAH
c.814G>T (p.Gly272Ter)
c.799G>T (p.Gly267Ter)
n.573G>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.102852843C=
CA2059446239
PAH
c.814G= (p.Gly272=)
c.799G= (p.Gly267=)
n.573G=
dbSNP
Number of alleles fetched
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