Table 4.
Data set | Gene | Hemophilia-causing mutations
|
Neutral variants | Mutation source | ||
---|---|---|---|---|---|---|
Severe | Moderate | Mild | ||||
F8 Training Set | f8 | 233 | 0 | 0 | 102 + (40a) | CHAMP, Santacroce et al. [24], dbSNP |
F8 Test Set 1 | f8 | 0 | 154 | 208 | 0 | CHAMP |
F8 Test Set 2 | f8 | 169 + (1a) | 108 + (2a) | 160 + (7a) | 0 | CHAMP |
F9 Test Set | f9 | 86 | 25 | 23 + (3ab) | 25 + (13a) | Katagiri et al. [15], dbSNP |