Table 3 Somatic mutation (frame shift resulting in a stop) in VHL in renal cell cancer, but not in peritimoral non-neoplastic tissue.

From: Profiling of the metabolic transcriptome via single molecule molecular inversion probes

 

Gene

Name

Nuc Change

Coverage

AA Change

Hint

c. HGVS

p. HGVS

Weighting

Kidney

VHL

        

Renal cancer

VHL

VHL

CG (het)

9% (22) [9% (11) / 9% (11)]

[STOP] AA 130 (E2/48)

RF changed

c.246_247delCG

p.Val83Argfs*48

distinct

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