Table 5.

Details of PKD1 and PKD2 Mutations in a Cohort of 25 Novel Patients

No.	Chr.	Position	REF	ALT	Exon	Gene	Exonic function	Amino acid change	QUAL	FILTER
1	16	2141440	CAGCG	C	42	PKD1	Frameshift deletion	NM_000296.3:c.11690_11693del:p.3897_3898del	11,229.66	PASS
2	16	2157900	CT	C	16	PKD1	Frameshift deletion	NM_000296.3:c.7049delA:p.E2350fs	16754.66	PASS
3	16	2144151	GCCCCAGCTCC	G	35	PKD1	Frameshift deletion	NM_000296.3:c.10548_10557del:p.3516_3519del	32720.66	PASS
4	16	2168287	G	A	5	PKD1	Stopgain SNV	NM_000296.3:c. 706C >T:p.Q236X	6574.71	PASS
5	16	2164185	G	A	11	PKD1	Stopgain SNV	NM_000296.3:c. 2839 C>T:p.Q947X	9480.71	PASS
6	16	2156600	G	A	18	PKD1	Stopgain SNV	NM_000296.3:c. 7288 C>T:p.R2430X	4314.5	PASS
7	16	2140782	G	A	44	PKD1	Stopgain SNV	NM_000296.3:c. 12028 C>T:p.Q4010X	13180.82	PASS
8	16	2160674	G	T	15	PKD1	Stopgain SNV	NM_000296.3:c. 4494 C>A:p.Y1498X	9530.5	PASS
9	16	2166531	T	A	8	PKD1	Nonsynonymous SNV∗†	NM_000296.3:c. 1721 A>T:p.E574V	6856.71	PASS
10	16	2156912	A	G	17	PKD1	Nonsynonymous SNV∗	NM_000296.3:c. 7103 T>C:p.L2368S	16,133.71	PASS
11	16	2164844	A	G	11	PKD1	Nonsynonymous SNV∗	NM_000296.3:c. 2180 T>C:p.L727P	7176.71	PASS
12	4	88929082	A	AC	1	PKD2	Frameshift insertion	NM_000297.3:c.197_198insC:p.D66fs	10197.45	PASS
13	4	88959475	C	T	4	PKD2	Stopgain SNV	NM_000297.3:c. 916 C>T:p.R306X	11,046.71	PASS
14	4	88959517	C	T	4	PKD2	Stopgain SNV	NM_000297.3:c. 958 C>T:p.R320X	18,191.71	PASS
15	4	88929145	G	A	1	PKD2	Stopgain SNV	NM_000297.3:c. 260 G>A:p.W87X	4583.71	PASS
16	4	88959536	T	G	4	PKD2	∗Nonsynonymous SNV	NM_000297.3:c. 977 T>G:p.V326G	11,941.71	PASS

Chr, chromosome; REF, reference.

^∗Classified as probably pathogenic based on SIFT, Polyphen-2, and MutationTaster predictions as specified in Materials and Methods.

^†Predicted to affect exon splicing by computational analysis by distrusting an exonic splice enhancer.