Table 2.
Mutation type | China cohort | UK cohort | P |
---|---|---|---|
Number of patients (%) | Number of patients (%) | ||
Large deletion | 65 (21.7) | 113 (21.5) | 0.005 |
Frameshift/nonsense | 63 (21.0) | 172 (32.8) | |
Splicing | 12 (4.0) | 18 (3.4) | |
In‐frame deletion/insertion | 8 (2.7) | 15 (2.9) | |
Missense | 152 (50.7) | 207 (39.4) | |
Total | 300 (100) | 525 (100) |