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Patients without family history of ADPKD.
| N | % | |
|---|---|---|
| Cases without family history of ADPKD | 45 | 23.3 |
| Cases with PKD1/PKD2 variants | 31 | 68.9 |
| PKD1T | 16 | 51.6 |
| PKD1NT | 10 | 32.3 |
| PKD2 | 5 | 16.1 |
| Cases with more than one variant | 5 | 16.1 |
| Cases with de-novo variants | 3 | 9.7 |
| Mosaicism | 1 | 3.2 |
| PKD1/PKD2 negative | 14 | 31.1 |
| Tested for other cystogenes | 11 | 78.6 |
| Cases with variants in other genes (PKHD1) | 4 | 28.6 |
Family data was available for 193 index cases.
