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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