Table 1.

Genetic information of the ADPKD patients.

Patients	Gene	Exon/Intron	Nucleotide change	Amino acid change	Zygosity	De novo/Inherited	Variant Classification
1	PKD1	EX18	c.7288C>T	p. Arg2430Ter	heterogeneous	inherit	pathogenic
2	PKD1	EX14	c.6465_6466delGC	p. Leu2155fs18Ter	heterogeneous	inherit	pathogenic
3	PKD1	EX15	c.3670G>T	p. Glu1224Ter	heterogeneous	de novo	pathogenic
4	PKD1	EX5	c.937G>T	p. Glu313Ter	heterogeneous	inherit	pathogenic
5	PKD1	EX46	c.12448C>T	p. Arg4150Cys	heterogeneous	inherit	likely pathogenic
6	PKD1	EX28	c.9578C>T	p. Pro3193Leu	heterogeneous	inherit	likely pathogenic
7	PKD1	EX10	c.1987C>T	p. Gln663Ter	heterogeneous	inherit	pathogenic
8	PKD1	EX3	c.350T>C	p. Leu117Ser	heterogeneous	de novo	likely pathogenic
	PKD1	EX46	c.12455A>C	p. Lys4152Thr	heterogeneous	inherit	VUS
9	PKD1	EX13	c.3067C>T	p. Gln1023Ter	heterogeneous	inherit	pathogenic
10	PKD1	EX45	c.12366G>A	p. Trp4122Ter	heterogeneous	inherit	pathogenic
11	PKD1	EX46	c.12712C>T	p. Gln4238Ter	heterogeneous	NA	pathogenic
12	PKD1	EX15	c.4997G>A	p. Trp1666Ter	heterogeneous	inherit	pathogenic
13	PKD1	EX15	c.6890A>C	p. His2297Pro	heterogeneous	NA	likely pathogenic

NA, not available; VUS, Variant of uncertain significance.