Table 1.
Genotype distribution: overall population and symptomatic patients
| Overall population N = 379, n (%) | Symptomatic patients N = 240, n (%) | |
|---|---|---|
| Val30Met (p.Val50Met) | 262 (69.1) | 146 (60.8) |
| Wild-type | 59 (15.6) | 57 (23.8) |
| Val122Ile (p.Val142Ile) | 14 (3.7) | 10 (4.2) |
| delVal122 (p.delVal142) | 14 (3.7) | 7 (2.9) |
| Glu89Lys (p.Glu109Lys) | 12 (3.2) | 9 (3.8) |
| Ala45Thr (p.Ala65Thr) | 3 (0.8) | 2 (0.8) |
| Glu89Gln (p.Glu109Gln) | 3 (0.8) | 1 (0.4) |
| Ile107Met (p.Ile127Met) | 3 (0.8) | 2 (0.8) |
| Ser77Tyr (p.Ser97Tyr) | 3 (0.8) | 1 (0.4) |
| Val71Ala (p.Val91Ala) | 2 (0.5) | 1 (0.4) |
| Asp18Asn (p.Asp38Asn) | 1 (0.3) | 1 (0.4) |
| Asp38Ala (p.Asp58Ala) | 1 (0.3) | 1 (0.4) |
| Glu89Gly (p.Glu109Gly) | 1 (0.3) | 1 (0.4) |
| Thr60Ala (p.Thr80Ala) | 1 (0.3) | 1 (0.4) |
Data cutoff: January 6, 2020