Table 2.

Distribution of likely CAKUT-causing variants detected by exome sequencing by their zygosity

Verdict	No. of Families	Autosomal Recessive Homozygous	Autosomal Recessive Compound Heterozygous	Autosomal Dominant Heterozygous	Autosomal Dominant De Novo	X-Linked	Sum
Solved	83/731a	2(2/2)/93	4(1/4)/93	71(11/71)/93	5(2/5)/93	1(1/1)/93	83/93c
Phenocopy	10/731b	3(3/3)/93	1(0/1)/93	6(1/6)/93	0/93	0/93	10/93d
SUM	93/731b	5/93	5/93	77/93	5/93	1/93	93e

The 93 likely deleterious variants that were detected by exome sequencing are broken down by their zygosity. Superscript numbers indicate the number of families (of total) with relevant homozygosity by descent (≥60 Mb). Detailed information about each variant is available in Supplemental Tables 6 and 8.

^aTotal number of genes with variants detected was 37 of 174 (Supplemental Tables 1–3).

^bTotal number of genes with variants detected was 8 of 46 (Supplemental Table 4).

^cNumber of families with verdict “Solved” of total number of families.

^dNumber of families with verdict “Phenocopy” of total number of families.

^eTotal number of families in whom a likely deleterious variant was detected.