Homozygote mutations (n: 228; 40.5 %) | ||||||||
M694V | E148Q | M680I | R202Q | V726A | P369S | K695R | U726A | |
Mild | 17 | 23 | 4 | 13 | 3 | |||
Moderate | 27 | 14 | 12 | 14 | 1 | |||
Severe | 70 | 12 | 10 | 6 | 2 | |||
Total | 114 | 49 | 26 | 33 | 6 | |||
Heterozygote mutations (n: 252; 44.8 %) | ||||||||
M694V | E148Q | M680I | R202Q | V726A | P369S | K695R | U726A | |
Mild | 41 | 10 | 6 | 3 | 1 | 9 | 7 | 3 |
Moderate | 57 | 9 | 8 | 4 | 2 | |||
Severe | 22 | 6 | 12 | 5 | 1 | |||
Total | 120 | 25 | 26 | 12 | 4 | 9 | 7 | 3 |
Compound Heterozygote mutations (n: 82; 14.6 %) | ||||||||
M694V/E148Q | M694V/R202Q | M694V/M680I | E148Q/V726A | |||||
Mild | 12 | 3 | 1 | 5 | ||||
Moderate | 15 | 2 | 2 | 3 | ||||
Severe | 5 | 7 | 9 | |||||
Total | 32 | 12 | 12 | 8 |