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Table 3 Mutant allele frequency in multiplex target next-generation sequencing

From: A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

Subject Gene Mutation Mutant allele Total allele %
Patient 1a AKT3 p.(N229S) 43 78 55.1
Patient 2 PIK3R2 p.(G373R) 847 1828 46.3
Patient 3 PIK3R2 p.(G373R) 343 689 47.8
Patient 4 PTEN p.(Q214*) 1497 2922 51.2
Patient 5 PTEN p.(L247S) 238 500 47.6
Patient 6 PTEN p.(Y336*) 96 214 44.9
  1. aThe mutation, which had previously been identified by WES, was reconfirmed by target next-generation sequencing