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Table 1 Characteristics of the variants identified in the tumour sample

From: Combining genomic analyses with tumour-derived slice cultures for the characterization of an EGFR-activating kinase mutation in a case of glioblastoma

Genes Transcript Coding Amino Acid Change PolyPhen SIFT Allele Coverage Allele Ratio dbSNP Clinical significance
DDR2 NM_006182.2      C = 1051, T = 938 C = 0.5284, T = 0.4716 rs3738807 Benign
FGFR3 NM_001163213.1 c.1959G > A p.(=)    G = 0, A = 1128 G = 0.0, A = 1.0 rs7688609 Likely benign
EGFR NM_005228.3      A = 0, T = 3916 A = 0.0, T = 1.0 rs1558544 na
EGFR NM_005228.3 c.2361G > A p.(=)    G = 2, A = 3929 G = 5.0E-4, A = 0.9995 rs1050171 Likely benign
EGFR NM_005228.3 c.2582 T > A p.Leu861Gln 0.999 0.01 T = 3304, A = 673 T = 0.8308, A = 0.1692 rs121913444 Pathogenic