Table 3. Evaluation of the pathogenic potential of variants.

Exon/Intron	cDNA change	Protein change	Known/Novel	Co-occurrence	SIFT MG	Polyphen-2 MG	AlignGVGD MGc	Proband ID	Family No.	Segregation ( + /−)	Final Prediction
PKD1
4	c.464G > A	p.Cys155Tyr	PKDBa		B	N	N	G0599	43	+	B
8	c.1673C > T	p.Thr558Met	Novel	p.Ser3771SerfsX54	N	N	N	G0017	39	NA	E
11	c.2534T > C	p.Leu845Ser	PKDBa	p.Val951Ala	B	B	B	G0247	4	+	B
11	c.2852T > C	p.Val951Ala	Novel	p.Leu845Ser	N	B	B	G0247	4	—	D
14	c.3193C > A	p.His1065Pro	Novel	p.Asn3188Lys	N	C	N	G0122	8	—	D
15	c.3548C > G	p.Ser1183Trp	Novel	p.Ser1457SerfsX64	N	B	N	G0315	9	NA	E
15	c.3955G > A	p.Gly1319Arg	16 a		B	B	B	G0210	16	+	B
15	c.5824C > T	p.Arg1942Cys	Novel		C	C	C	G0240	7	+	C
15	c.6496C > T	p.Arg2166Cys	PKDBb	p.Thr2720del	C	B	I	G0001, G0649	12,44	NA —	I
17	c.7132G > A	p.Val2378Met	Novel	p.Val1971GlufsX17	N	B	N	G1052	48	—	E
18	c.7214G > T	p.Trp2405Leu	Novel		B	C	C	G0255	2	+	C
22	c.8157—8159delCAC	p.Thr2720del	Novel	p.Arg2166Cys				G0649	44	+	B
23	c.8294G > A	p.Arg2765His	Novel		N	N	N	G0676	56	NA	E
23	c.8311G > A	p.Glu2771Lys	PKDBa		C	B	C	G0212	18	+	B
25	c.9136C > T	p.Arg3046Cys	Novel	p.Tyr3819Asn	B	C	C	G0241	6	NA	C
27	c.9564C > G	p.Asn3188Lys	Novel	p.His1065Pro	B	B	B	G0122	8	+	C
IVS32	c.10220+2T > C		Novel	p.Thr4018Ile	Possibly affecting the splice site	G1410	38	+	B
IVS35	c.10618+1delG		Novel		Possibly affecting the splice site	G0053	10	+	B
41	c.11455T > A	p.Tyr3819Asn	Novel	p.Arg3046Cys	B	C	N	G0241	6	NA	D
44	c.12053C > T	p.Thr4018Ile	Novel	c.10220 + 2T > C	C	B	I	G1410	38	—	I
PKD2
1	c.17G > A	p.Arg6His	Novel	Exon1del	B	N	N	G0677	30	—	E
8	c.1796G > A	p.Gly599Asp	Novel		B	C	B	G0976	47	+	C

Abbreviations: ID, identification; NA, not analysed; MG, mutation group; PKDB, PKD mutation database; B: highly likely pathogenic; C: likely pathogenic; I: indeterminate; N: neutral; D: likely polymorphic; E: polymorphic.

^aThe mutation has been previously classified to be “highly likely pathogenic”.

^bThe mutation has been previously classified to be “indeterminate”.

^cPolycystin orthologue alignment (human, mouse, rat, chicken, X. tropicalis, fugu, dog, opossum and tetraodon).