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. 2021 May 15;13(5):4489–4499.

Table 3.

Comparison of the QCI-I results for chosen primary tumor duplicates with reported data on gene variant pathogenicity

Gene Variant Tier Pathogenicity Effect Allelic frequency (%)

Sample BC4 FFPE Sample BC5 FFPE

EGFR c.2125G>A, p.E709K 2C ü missense 4,81 -
PIK3CA c.3073A>G, p.T1025A 2C ü missense - 11
KIT c.1737T>C, p.D579D 4 possibly not missense 4,17 -

Sample BC6 FFPE Sample BC7 FFPE

PIK3CA c.1049A>G, p.D350G 2C ü missense 4,49 -

Sample BC11 FFPE Sample BC12 FFPE

EGFR c.2508C>T, p.R836R 4 possibly not synonymous 26 42
PDGFRA c.661C>T, p.L221F 4 possibly not missense 36 40