Table 5

Most commonly reported variants in each gene and clinically relevant mutations

GeneMost commonly reported variant by participantsClinically relevant variants known to be present in the sample
BRAF c.1799T>A p.(Val600Glu)c.1799T>A p.(Val600Glu)
EGFR c.2235_2249del p.(Glu746_Ala750del)c.2156G>C p.(Gly719Ala); c.2235_2249del p.(Glu746_Ala750del); c.2573T>G p.(Leu858Arg) and c.2582T>A p.(Leu861Gln)
KIT c.1727T>C p.(Leu576Asn)c.1504_1509dup p.(Ala502_Tyr503dup) and c.1727T>C p.(Leu576Asn)
KRAS c.35G>A p.(Gly12Asp)c.35G>A p.(Gly12Asp), c.175G>A p.(Ala59Thr) c.183A>C p.(Gln61His) and c.351A>C p.(Lys117Asn)
NRAS c.35G>A p.(Gly12Asp)c.35G>A p.(Gly12Asp) and c.182A>G p.(Gln61Arg)
PDGFRA c.1698_1712del and c.2525A>T p.(Asp842Val)c.2525A>T p.(Asp842Val)
PIK3CA c.3140A>G p.(His1047Arg)c.1624G>A p.(Glu542Lys); c.1633G>A p.(Glu545Lys) and c.3140A>G p.(His1047Arg)