Figure 2. Frequency and type of PKD1 and PKD2 mutations from the PKD mutation database.

All mutation types have been reported for both genes. The relative infrequency of missense mutations and in-frame insertions or deletions for PKD2 could reflect the under-diagnosis of these patients present in the general population. The PKD mutation database is available at http://pkdb.mayo.edu/index.html (accessed 22 April 2016).