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    1. c.263G > A p.Trp88Stop

      540 patients from 187 unrelated Chinese VHL families at the Peking University First Hospital were all screened for VHL clinical features and germline mutations. Of these, clinical characteristics were observed in 258 patients from 80 unrelated Chinese families. These were reported in this study, grouped by the 21 mutations found. PCR and MLPA on peripheral blood detected the VHL mutations. Possessing the p.W88* (c.263G>A) mutation, 4 members belonging to 1 or 2 families [unclear] were described, and phenotypic information was given for this group. With ages ranging from 33.8Y +/- 17.6Y, hemangioblastoma was observed in 3/4 members, renal cell carcinoma in 2, pancreatic cysts in 2, pheochromocytoma in 1 member, and a genital system tumor (epididymis or broad ligament) in 2 members. See more information as this cohort has been previously published in PMID 29330336 and 28388566.