Table 2 Characteristics of the detected mutations
From: Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease
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 |