| n (%) | |
| Location | |
| N-terminal domain | 6 (9.5) |
| SIX domain | 27 (42.9) |
| Homeodomain | 22 (34.9) |
| C-terminal domain | 8 (12.7) |
| Exon 1 | 57 (90.5) |
| Exon 2 | 6 (9.5) |
| Mutation type | |
| Missense | 44 (69.8) |
| Nonsense | 6 (9.5) |
| Duplication→ FS | 6 (9.5) |
| Deletion→FS | 3 (4.8) |
| Splice mutation | 1 (1.6) |
| 9 bp deletion → 3 aa deletion | 1 (1.6) |
| 3 bp deletion → 1 aa deletion | 1 (1.6) |
| Deletion/insertion → nonsense | 1 (1.6) |
aa, Amino acid; FS, frameshift; MIHV, middle interhemispheric variant.