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. 2018 Jul 20;71(11):989–994. doi: 10.1136/jclinpath-2018-205277

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)