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Large deletions and duplication found in the Czech cohort. Numbers of patients and probands of our cohort are given in corresponding columns. The variant c.726_777del was included in the frameshift set (Table 4) even though it comprises more than 20 bases because the deletion does not affect a whole exon
| Variant cDNA | Number of probands | Number of patients |
|---|---|---|
| EX1-6del | 1 | 3 |
| EX1-8del | 2 | 2 |
| EX4del | 9 | 15 |
| EX7del | 2 | 6 |
| EX5-6dup | 1 | 1 |
