Table 5.
Most commonly reported variants in each gene and clinically relevant mutations
Gene | Most commonly reported variant by participants | Clinically 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) |