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Table 1 Genotypes and phenotypes in 2 Chinese Von Hippel-Lindau disease pedigrees

From: VHL Ser65 mutations enhance HIF2α signaling and promote epithelial-mesenchymal transition of renal cancer cells

Patient Family
History
Exon Nucleotide Change and
Consequence
Clinical
Type
Age at Diagnosis (y)
CNSH RH RCC PCT PHE
Family 1  +  1 c.193 T > C (p.Ser65Pro) 1      
 III-1    Heterozygous   16 29 29
 II-1    Heterozygous   25
Family 2  +  1 c.194C > G (p.Ser65Trp) 1      
 III-4    Heterozygous   - 33 33
 II-1*    UN   UN
 III-6    Heterozygous   32
 IV-6    Heterozygous   22 23 23
  1. *Death before enrollment, age of death is 63y
  2. CNSH central nervous system hemangioblastoma, RH retinal hemangioblastoma; RCC renal cell carcinoma, PCT pancreatic cysts or tumors, PHE pheochromocytoma, UN unknown