| Patients with exact genetic information, n (%) | 525 (100%) |
| Missense | 239 (45.5%) |
| Nonsense | 80 (15.2%) |
| Intronic | 90 (17.1%) |
| Deletion | 76 (14.5%) |
| Insertion | 40 (7.6%) |
| Classes of variants | 525 (100%) |
| Class I: missense in exon 1+2 or c.559+5G>A | 209 (39.8%) |
| Class II: other exact variants | 316 (60.2%) |
| Classification of variants according to ACMG criteria | 525 (100%) |
| Class I: missense in exon 1+2 or c.559+5G>A | 209 (39.8%) |
| Pathogenic | 160 (76.6%) |
| Likely pathogenic | 37 (17.7%) |
| VUS | 11 (5.3%) |
| Likely benign | 1 (0.5%) |
| Benign | — |
| Class II: other exact variants | 316 (60.2%) |
| Pathogenic | 130 (41.1%) |
| Likely pathogenic | 133 (42.1%) |
| VUS | 49 (15.5%) |
| Likely benign | 1 (0.3%) |
| Benign | 3 (0.9%) |
| Hot spots,∗ n | |
| Class I | |
| c.C134T; p.Thr45Met | 15 |
| p.Val75Met/Gly/Leu | 60 |
| p.Arg86His/Leu/Gly/Cys | 59 |
| c.559 +5 G>A | 22 |
| Class II | |
| c.C121T ; p.Arg41X | 10 |
| c.C631T; p.Arg211X | 21 |
| c.777+1 G>A | 10 |
| Patients with exact genetic information, n (%) | 525 (100%) |
| Missense | 239 (45.5%) |
| Nonsense | 80 (15.2%) |
| Intronic | 90 (17.1%) |
| Deletion | 76 (14.5%) |
| Insertion | 40 (7.6%) |
| Classes of variants | 525 (100%) |
| Class I: missense in exon 1+2 or c.559+5G>A | 209 (39.8%) |
| Class II: other exact variants | 316 (60.2%) |
| Classification of variants according to ACMG criteria | 525 (100%) |
| Class I: missense in exon 1+2 or c.559+5G>A | 209 (39.8%) |
| Pathogenic | 160 (76.6%) |
| Likely pathogenic | 37 (17.7%) |
| VUS | 11 (5.3%) |
| Likely benign | 1 (0.5%) |
| Benign | — |
| Class II: other exact variants | 316 (60.2%) |
| Pathogenic | 130 (41.1%) |
| Likely pathogenic | 133 (42.1%) |
| VUS | 49 (15.5%) |
| Likely benign | 1 (0.3%) |
| Benign | 3 (0.9%) |
| Hot spots,∗ n | |
| Class I | |
| c.C134T; p.Thr45Met | 15 |
| p.Val75Met/Gly/Leu | 60 |
| p.Arg86His/Leu/Gly/Cys | 59 |
| c.559 +5 G>A | 22 |
| Class II | |
| c.C121T ; p.Arg41X | 10 |
| c.C631T; p.Arg211X | 21 |
| c.777+1 G>A | 10 |
Defined as ≥10 patients with this variant.