Table 7. Cases with more than 1 variant in PKD1, PKD2 and classified as pathogenic.

N.	CDNA	Protein	Trans	Score	Prediction for novel variants	Novel/PKDB classification
	PKD1
1	c.8689_8690insCCAACTCCG	p.Val2897delinsAlaAsnSer	y		highly likely pathogenic	novel
	c.12112insG	p.Val4038Glyfs*118			definitely pathogenic	novel
2	c.7859_7863delCGAG	p.Asn2620Ilefs*39			definitely pathogenic	novel
	c.7863 + 1_ + 4delGTGA				definitely pathogenic	novel
3	c.6050C>A	P.Ser2017*				definitely pathogenic
	c.12442G>A	p.Glu4148Lys		17	likely pathogenic	novel
4	c.9694A>T	p.Lys3232*			definitely pathogenic	novel
	c.10651C>T	p.Pro3551Ser		20	likely pathogenic	novel
5	c.11537 + 2T>A				definitely pathogenic	novel
	c.9829C>T	p.Arg3277Cys				likely hypomorphic
6	c.6005_6043del39	p.Val2002_Gln2014del			definitely pathogenic	novel
	c.4057G>A	p.Gly1353Ser		19	likely pathogenic	novel
7	c.2098-2_2109del14				definitely pathogenic	novel
	c.9739C>T	p.Arg3247Cys		20	likely pathogenic	novel
8	c.7119C>G	p.Cys2373Trp		20	likely pathogenic	novel
	c.8405C>T	p.Pro2802Leu				likely pathogenic
9	c.11017-10C>A					highly likely pathogenic
	c.8369C>T	p.Pro2790Leu		16	likely pathogenic	novel
	c.12454A>G	p.Lys4152Glu		17	likely pathogenic	novel
	PKD1 + PKD2
10	PKD1 c.8293C>T	p.Arg2765Cys				likely hypomorphic
	PKD1 c.10043G>A	p.Arg3348Gln				likely pathogenic
	PKD2 c.1094 + 1G>A					definitely pathogenic
11	PKD1 c.6583_6589del7	p.Cys2195Glyfs*15				definitely pathogenic
	PKD2 c.2392C>T	p.Arg798Cys				likely pathogenic