Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip

Table 4 Rare heterozygous exome variants [HSPG2 (c.3328G > T; p.Ala1110Ser) and ATP2B4 (c.2264G > A; p.Arg755Gln) identified in all affected individuals with developmental dysplasia of the hip

Gene	Variant Type	Global Minor Allele Frequency^a	PolyPhen2	SIFT	Mutation Taster	Mutation Assessor	CADD	GERP++	PhastCons	SiPhy	Phylop	VEST3
HSPG2	Missense	0.0%	0.999	0.01	1.0	2.8	26.2	5.44	0.84	10.23	0.83	0.55
ATP2B4	Missense	0.0%	0.997	0.0	1.0	4.6	35.0	5.2	1.0	18.36	0.95	0.92

^a1000 Genome, Exome Aggregation Consortium, 64 exome sequences from Saudi individuals

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