Table 2.
Variants identified in the 5 control samples
Sample | Known mutations | Mutations identified by NGS‡ | Allele frequency# |
---|---|---|---|
L1 | KRAS: p.Gly12Cys | KRAS: p.Gly12Cys | 0.44 - 0.54 |
A12 | KRAS: p.Gly12Ala | KRAS: p.Gly12Ala | 0.66 - 0.67 |
FBXW7: p.His460Tyr | 0.46 - 0.49 | ||
TP53: p.Ala159Asp | 0.74 - 0.75 | ||
A13 | KRAS: Gly13Asp | KRAS: Gly13Asp | 0.50 - 0.56 |
PIK3CA: p.Asp549Asn | 0.43 - 0.46 | ||
DDR2: p.Thr98Ala | 0.47 - 0.56 | ||
FGFR1: p.Ala268Ser | 0.50 - 0.66 | ||
NOTCH1: p.Pro1581Leu | 0.48 - 0.54 | ||
X23 | KRAS: p.Gly12Asp | KRAS: p.Gly12Asp | 0.65 - 0.75 |
PIK3CA: p.Glu545Lys | PIK3CA: p.Glu545Lys | 0.40 - 0.51 | |
X32 | KRAS: p.Gly12Asp | KRAS: p.Gly12Asp | 0.54 - 0.69 |
PIK3CA: p.Glu542Lys | PIK3CA: p.Glu542Lys | 0.44 - 0.46 | |
FBXW7: p.Arg465His | FBXW7: p.Arg465His | 0.46 - 0.55 | |
TP53: p.Gly244Asp | TP53: p.Gly244Asp | 0.32 - 0.35 |
‡Newly identified variants were verified by conventional Sanger sequencing.
#Indicated is the range of the allele frequencies over the different laboratories.