Table 2.

Mutations of the PKD1 gene in 17 patients with IAs

Case No.	Exon	Kind of mutation	Mutation	Amino acid	Established
3	7	frameshift	1602 del C	p. Gly 535 Glu fs × 23	no*
27	10	frameshift	2054_2055 del AG	p. Glu 685 Val fs × 28	definitely pathogenic
5, 6, 29	19	frameshift	7575_7576 del CT	p. Phe 2525 Leu fs × 69	no*
30	19	missense	7601 G/C	S 2534 T	no*
13	23	missense	8279 C/T	M 2760 T	no*
			8282 G/C	0R 2761 P
			8291 T/C	M 2764 T
31	24	splice	8792-2 A/C	Splice	likely pathogenic
32	27	missense	9398 G/A	G 3133 D	no*
8	37	frameshift	10840 del T	p. Tyr 3614 Thr fs × 18	no*
18	38	frameshift	11134 del C	p. Arg 3712 Gly fs × 114	no*
2, 23	42	frameshift	11554 del C	p. Leu 3852 Trp fs × 93	no*
16	43	missense	11717 G/T	C 3906 F	no*
17	11b	frameshift	2644_2645 dup GT	p. Pro 883 Cys fs × 16	no*
4	15d	frameshift	5014_5015 del AG	p. Arg 1672 Gly fs × 98	definitely pathogenic
28	15f	frameshift	5997_6004 del 8 bp	p. Ser 2000 Arg fs × 47	likely pathogenic

* These mutations have so far not been reported.