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. 2020 Nov 5;21(12):1097–1104. doi: 10.1080/15384047.2020.1834319

Table 1.

Results of NGS examination

  Tissue sample
Blood sample
Gene Abundance Alteration type Abundance Alteration type
EGFR CN: 4.55 Amplification    
TP53 44.60% Exon 6, p.Y220C, missense 7.20% Exon 6, p.Y220C, missense
NOTCH1 57.73% Exon 6, p.C359Y, missense 4.72% Exon 6, p.C359Y, missense
HLA-A 55.20% Exon 5, p.S337P, missense 7.54% Exon 5, p.S337P, missense
EP300 30.14% Exon 28, p.W1509R, missense 10.34% Exon 28, p.W1509R, missense
ARID1A     0.83% Exon 7, non-sense
ASXL1     1.74% Exon 12, p.P1035S, missense
PIK3CA     1.94% Exon 10, p.E545K, missense
HSD3B1     1.60% Exon 4, p.Y181C, missense
PTCH1     1.93% Exon 18, p.E970K, missense
FAT3     2.50% Exon 9, p.T1874A, missense
LRP1B     2.24% Exon 18, p.D2621H, missense
FGF10     1.34% Exon 10, p.V77F, missense
PPM1D     0.57% Exon 6, non-sense
SMAD4     1.29% Exon 11, non-sense
TERT     1.22% Exon 9, p.R858Q, missense