From: Clinical and molecular characteristics of East Asian patients with von Hippel–Lindau syndrome
Deletion | East Asian cohort | McNeill et al. [14] | P value |
---|---|---|---|
Exon 1 AND (Exon 1 and FANCD2) | 8 (16%) | 8 (12.3%) | 0.597 |
Exon 1 and 2 | 1 (2%) | 4 (6.2%) | 0.386 |
Exon 2 | 5 (10%) | 12 (18.5%) | 0.209 |
Exon 2 and 3 | 2 (4%) | 1 (1.5%) | 0.579 |
Exon 3 | 9 (18%) | 15 (23.1%) | 0.644 |
Exon 1 and 2 and 3 AND (Exon 1, 2, 3, and FANCD2) | 24 (48%) | 25 (38.4%) | 0.349 |
Unknown | 1 (2%) | 0 (0%) | |
Total | 50 similar mutations | 65 similar mutations |