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