Table 1. Disease-causing mutations and phenotypes of individual A3964-21 with end-stage renal disease and homozygous missense mutation in VWA2.

Individual	Origin	Causative Gene	Genomic coordinates (hg19)	Alteration in coding sequence	Altera-tion of protein	Zygo-sity	Contin-uous AA sequence conservation	PP2 MutTast SIFT CADD	ExAC	Gnomad	Pheno-type
A3964-21	India	VWA2	chr10:116046036C>T	c.1336C>T	p.Arg446Cys	Homo	Mus musculus	P.D. (0.95); D.c. (0.997); Tol. (0.1); 29.0	0/54/119156 (MAF 0.046%)	2/114/274368 (MAF 0.041%)	bilat. VUR (V), ESRD

AA, amino acid; PP2, Poly Phen 2; MutTast, Mutation Taster; SIFT, Sorting intolerant from tolerant; CADD, Combined Annotation Dependent Depletion; Homo, homozygous; P.D., probably damaging; D.c., Disease causing; Tol, tolerated; VUR, vesicoureteral reflux; ESRD, end-stage renal disease.