Variants defined as pathogenic
| Types of variants | Reported (Class 1) | Not reported (Class 2) | Total |
| Putative deleterious variants | |||
| Stop gain | 31 | 52 | 83 |
| Stop loss | 0 | 2 | 2 |
| Frameshift insertion | 5 | 18 | 23 |
| Frameshift deletion | 19 | 40 | 59 |
| Frameshift indel | 0 | 1 | 1 |
| Canonical splice site variant | 7 | 19 | 26 |
| Non-functionally deleterious variants | |||
| Missense | 150 | – | 150 |
| Non-frameshift deletion | 2 | – | 2 |
| Non-canonical splice site variants | 3 | – | 3 |
| Synonymous variant | 1 | – | 1 |
| Total | 218 | 132 | 350 |
The pathogenic variants were defined if the variant was putative deleterious or registered as pathogenic in the Human Gene Mutation Database or ClinVar database, and the minor allele frequency in any ethnic population was ≤0.5% in recessive genes or ≤0.01% in dominant genes using various population-based databases.