Table 2

Testing tumour biomarker genes (other than epidermal growth factor receptor and TP53) variants in cell-free DNA by the next-generation sequencing test

SNV geneVariantCoding changeVariant descriptionAllele fraction (%)Variant depthMolecular mutant per mL (n)
NTRK1Exon 17 p.I737Ic.2211C>TSynonymous variant2.97119/4007225
RB1Exon 19 p.V654Mc.1960G>AMissense variant7.91286/3616598
ROS1Exon 41 p.L2157Vc.6469C>GMissense variant0.284/14172.1
PMS2Exon 11 p.A660Ac.1980C>TSynonymous variant44.08901/2044425
PMS2Exon 3 p.D70Gc.209A>GMissense variant47.13345/732505
PTCH1Exon 17 p.N929Nc.2787C>TSynonymous variant46.501789/38474490
PTCH1Exon 14 p.R665Cc.1993C>TMissense variant1.3244/333212.7
PTCH1Exon 22 p.A1247Ac.3741G>ASynonymous variant1.5732/203422.5
BRAFExon 15 p.V600Ec.1799T>AMissense variant0.082/25611.3
GNASExon 8 p.R202Cc.604C>TMissense variant1.3235/265521.2
ERBB2Exon 23 p.K937Rc.2810A>GMissense variant0.215/23904.5
ERBB2Exon 26 p.R1111Qc.3332G>AMissense variant0.6112/196113.1
CTNNB1Exon 3 p.S33Yc.98C>AMissense variant0.073/459763
PTENExon 5 p.H93Yc.277C>TMissense variant4.32157/3633162
PTENExon 8 p.N323fsc.968dupAFrameshift variant0.121/8410.9
PTENExon 8 p.N323fsc.968dupAFrameshift variant0.111/8921.2