Table I.

Whole exome sequence results: variants in disease genes possibly related to patient’s phenotype.

Disease	Inheritance	Gene	Nucleotide/Amino Acid	Zygosity	ESP5400 AA/EA	SIFT/PolyPhen-2
{Moyamoya disease 2, susceptibility to} [MIM:607151]	Complex	RNF213	c.12353C>T p.S4118F	Het	N/R	Damaging/Probably damaging
Homocystinuria, cblD type, variant 1 [MIM:277410]	AR	MMADHC	c.41A>G p.Y14C	Het	N/R	Damaging/Probably damaging
Homocystinuria- megaloblastic anemia, cblG complementation type [MIM:250940]	AR	MTR	c.1862A>G p.D621G	Het	1/3737 10/7010	Damaging/Benign

AR - autosomal recessive; Het - heterozygous; N/R - not reported; AA/EA - African Americans/European Americans