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Table 1 The panel of targeted genes involved in mTOR pathway

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

Gene Chr Number of exons Number of amplicons Total Bases Overall coverage (%)
PIK3CA 3 20 34 3407 98.3
PIK3CB 3 22 30 3433 98.7
PIK3CD 1 22 37 3355 97.6
PIK3R1 5 18 23 2506 100
PIK3R2 19 15 19 2337 79.2
PIK3R3 1 10 14 1486 100
PTEN 10 9 12 1302 97.6
PDPK1 16 14 19 1811 95.3
AKT1 14 13 22 1573 97.5
AKT2 19 14 18 1687 98.9
AKT3 1 14 17 1624 98.8
RHEB 7 8 8 635 95.1
MTOR 1 57 69 8220 99.7
TSC1 9 22 29 3834 100
TSC2 6 42 61 6006 96.5
  Total 300 412 43216 97.4
  1. Chr chromosome
  2. Overall coverage means percent of coverage in target sequence