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Characteristics of the detected mutations
| Description | PKD1 | PKD2 | Total |
|---|---|---|---|
| Pathogenic | 21 | 3 | 23 |
| Probably pathogenic | 5 | 1 | 6 |
| FS deletion/insertion/duplication | 10 | 0 | 10 |
| Nonsense | 9 | 1 | 10 |
| Splicing | 1 | 1 | 2 |
| IF deletion/insertion | 1 | 0 | 1 |
| Missense | 5 | 1 | 6 |
| Recurrent mutations | 7 | 2 | 9 (31%) |
| Novel mutations | 19 | 1 | 20 (69%) |
| Total mutations detected | 26 (89.7%) | 3 (10.3%) | 29 |
FS, frame-shift; IF, in-frame.
