Table 1.

Clinical characteristics of the 319 individuals (232 families) with congenital anomalies of the kidneys and urinary tract who were submitted for whole-exome sequencing analysis

Patient Characteristics	Total Cohort
	n	Percentage
Sex
Women	129	40
Men	189	59
Unknown	1	<1
Total	319	100
Extrarenal manifestations
Yes	79	25
No	240	75
Total	319	100
Reported consanguinity
Yes	59	18
No	260	82
Total	319	100
Homozygosity on mapping ≥60 Mbp
Yes	50	16
No	240	75
Not enough SNPs to generate mapping	29	9
Total	319	100
CAKUT phenotype
Unilateral CAKUTa	130	41
Bilateral concordant CAKUTa	111	35
Bilateral discordant CAKUTa	32	10
Undefined CAKUT phenotype	21	7
Isolated PUV or epi-/hypospadias	11	3
PUV with an additional CAKUT phenotypes	14	4
Total	319	100

SNP, single-nucleotide polymorphism; CAKUT, congenital anomalies of the kidney and urinary tract; PUV, posterior urethral value.

^aSupplemental Figure 5 and Supplemental Table 5 have a breakdown of the CAKUT pathologies in individuals with unilateral or bilateral pathology.