Mutations | Genotype | Patients, n (%) |
Homozygotes |
M694V/M694V M694I/M694I E148Q/E148Q | 62 (11.2%) 28 13 9 |
| V726A/V726A M680I/M680I R761H/R761H | 9 2 1 |
Compound heterozygotes |
| 170 (30.9%) |
| M694V/V726A E148Q/M694V M694V/M694I M694I/V726A M680I/V726A M694V/R761H E148Q/M694I E148Q/V726A M680I/M694V M694I/R761H M694V/E148Q P369S/R408Q E474K/R761H E167D/F479L Others | 35 12 12 11 10 8 8 8 7 6 3 3 3 3 41 |
Simple heterozygotes |
| 310 (56.4%) |
| E148Q/- M694V/- V726A/- M694I/- A744S/- R761H/- A289V/- I259V/- Others | 92 68 52 32 21 9 7 4 25 |
Complex heterozygotes |
| 8 (1.5%) |
| P369S/R408Q/A457V V726Z/R7261H/E148Q P369S/R408Q/R761H E148Q/E148V/M694I E167D/F479L/V726A I692del/E148Q/E148V P369S/R408S/V726A | 2 1 1 1 1 1 1 |
Total |
| 550 |