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. 2016 Aug 8;6:30850. doi: 10.1038/srep30850

Table 2. PKD1 and PKD2 novel variants identified, grouped in classes.

Cases PKD1
PKD2
Familial Sporadic Familial Sporadic
Large rearrangements 0 1 0 0
Canonic splice sites 8 5 3 1
Frameshift 46 12 5 0
Nonsense 26 9 5 2
In frame indels ≥5 3 0 0 0
In frame indels <5 6 2 0 0
Missense 104 36 6 5
Intronic 67 19 10 3
Synoyim 46 19 2 1
Total 306 103 31 12
Total F + S 409 43