Table 5. Pathogenic variants found in at least 3 unrelated patients.

cDNA	Protein	Exon/IVS	Number of unrelated patients	Prediction	Described/Novel
PKD1
c.856_862delTCTGGCC	p.Gly287fs*1	5	4	definitely pathogenic	Described
c.2180T>C	p.Leu727Pro	11	4	likely pathogenic	Described
c.5014_5015delAG	p.Arg1672Glyfs*97	15	9	definitely pathogenic	Described
c.3607C>T	p.Gln1203*	15	3	definitely pathogenic	Novel
c.8311G>A	p.Glu2771Lys	23	5	highly likely pathogenic	Described
c.8935_8937delTTC	p.Phe2979del	24	3	highly likely pathogenic	Described
c.11134delC	p.Arg3712Glyfs*14	38	3	definitely pathogenic	Described
c.11354G>C	p.Trp3785Ser	40	3	likely pathogenic	Novel
c.6916-9G>A		IVS15	3	highly likely pathogenic	Described
c.8017-2_-1delAG		IVS21	3	definitely pathogenic	Described
PKD2
c.637C>T	p.Arg213*	2	6	definitely pathogenic	Novel
c.916C>T	p.Arg306*	4	3	definitely pathogenic	Described
c.2159dupA	p.Asn720Lysfs*5	11	3	definitely pathogenic	Described
c.1094 + 1G>A	p.?	IVS4	3	definitely pathogenic	Described