NGS Nominated CELA1, HSPG2, and KCNK5 as Candidate Genes for Predisposition to Balkan Endemic Nephropathy

Table 1

Nonannotated variants with frequency of more than 40% in BEN patients, discovered in our study.

Number of patients	Gene	Chr	Position	Exon	Mutation	Aminoacid change	Protein
11	HSPG2	1	22186113	43	c.5239A>C	p.Thr1747Pro	Heparan sulfate proteoglycan 2
10	CELA1	12	51740414	2	c.9_10delC	p.Leu4Phefs	Chymotrypsin-like elastase family, member 1
9	KCNK5	6	39162513	4	c.1397A>C	p.Thr108Pro	Potassium channel, subfamily K, member 5