Table 6.

Molecular defects in additional cystogenes detected in 25 PKD1/PKD2-negative cases.

ID	Age at diagnosis	Gene	Exon	Protein	cDNA	ACMG classification
16542	42	PKHD1	58	p.H3124Y	c.9370 C>T	VUS
		PMM2	2	p.G42R	c.124 G>A	LP
16672	41	PKHD1	66	p.R3913C	c.11737C>T	VUS
17254	15	PKHD1	5	p.R124*	c.370C>T	P
17316	17	PKHD1	3	p.T36M	c.107C>T	LP
		PKHD1	46	p.C2422G	c.7264T>G	LP
17654	61	ALG8	4	p. L149R	c.446T>G	VUS
18607	59	PRKCSH	15	p.Y423*	c.1269C>G	LP

ACMG, American College of Medical Genetics and Genomics standard. *stop codon (Ter).