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Table 3 Detection of known pathogenic mutations carried by the GIST samples analyzed as evidenced by exome sequencing in FF and FFPE samples

From: Whole exome sequencing (WES) on formalin-fixed, paraffin-embedded (FFPE) tumor tissue in gastrointestinal stromal tumors (GIST)

Patient Chr:Position GENE cDNA PROTEIN FF Ref_Cov/Alt_Cov (Ratio) FFPE Ref_Cov/Alt_Cov (Ratio) PB Ref_Cov/Alt_Cov (Ratio)
GIST174 4:55593661 KIT c.T1727C p.L576P 2/160 (98.8 %) 12/236 (95.2 %) 116/0 (0 %)
GIST165 4:55152093 PDGFRA c.A2525T p.D842V 109/35 (24.3 %) 57/32 (36.0 %) 110/0 (0 %)
GIST193 5:235345 SDHA c.C1151G p.S384X 4/50 (92.6 %) 5/38 (88.4 %) 23/24 (51.1 %)
  1. Ref reference, Alt alternative, Cov Coverage