Table 1. Total number of PKD1 and PKD2 variants identified, grouped in classes.

Cases	PKD1		PKD2
	Familial	Sporadic	Familial	Sporadic
Large rearrangements	2	1	0	1
Canonic splicing	17	7	8	2
Frameshift	73	19	10	0
Nonsense	60	17	15	3
In frame indels ≥5	4	0	0	0
In frame indels <5	13	8	1	0
Missense	165	51	12	6
Intronic	87	24	10	3
Synonym	54	23	3	2
Total	475	150	59	17
Total F + S	625		76