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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102852920del
CA229729
PAH
c.737del (p.Ala246ValfsTer?)
c.722del (p.Ala241ValfsTer?)
n.496del
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
12
g.102852920G=
CA2059446627
PAH
c.737C= (p.Ala246=)
c.722C= (p.Ala241=)
n.496C=
dbSNP
dbSNP
Number of alleles fetched
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