Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease

Table 4 All exonic polymorphisms found in our study

Exon	cDNA level	Protein level	rs number	Allele frequency % (n = 52)
4	c.214C > T	p.Leu72Leu	rs6901799	13.5
4	c.234C > T	p.Asp78Asp	rs9474143	32.7
15	c.1185 T > C	p.Asp395Asp	rs1896976	100.0
17	c.1587 T > C	p.Asn529Asn	rs62406036	9.6
19	c.1736C > T	p.Thr579Met	rs45500692	1.9
20	c.1929C > A	p.Thr643Thr		1.9
20	c.1950G > A	p.Arg650Arg	rs143226202	1.9
21	c.2046A > C	p.Pro682Pro	rs4715271	13.5
22	c.2278C > T	p.Arg760Cys	rs9370096	38.5
24	c.2489A > G	p.Asn830Ser	rs62406032	9.6
32	c.3756G > C	p.Leu1252Leu	rs9689306	7.7
32	c.3785C > T	p.Ala1262Val	rs9296669	38.5
35	c.5608 T > G	p.Leu1870Val	rs2435322	100.0
48	c.7587G > A	p.Gly2529Gly	rs12210295	63.5
48	c.7673G > A	p.Arg2558Gln	rs369677008	1.9
49	c.7764A > G	p.Leu2588Leu	rs9349603	30.8
55	c.8581A > G	p.Ser2861Gly	rs150925674	7.7
58	c.9237G > A	p.Ala3079Ala	rs765525	46.2
61	c.10521C > T	p.His3507His	rs34460237	9.6
63	c.11340 T > C	p.Pro3780Pro	rs17667728	3.8
66	c.11696A > G	p.Gln3899Arg	rs4715227	48.1
66	c.11714 T > A	p.Ile3905Asn	rs2661488	3.8
67	c.11878G > A	p.Val3960Ile	rs34548196	3.8
67	c.12143A > G	p.Gln4048Arg	rs9381994	25.0

ISSN: 1471-2350