Table 1. Clinical information and bioinformatics prediction results.

EPAS1 mutation (NM_001430 )		No. of cases	Phenotype	Gender (M/F)	Ethnic group	Age at diagnosis (year)	Frequency		Conservative (Y/N)	Bioinformatics prediction
DNA changes	AA changes						ExAC	1000G		Mutation Taster	PolyPhen-2	SIFT
c.607A>C	p.N203H	1	PDA	F	Tibetan	13	0	0	Y	Disease causing	Probably damaging	Damaging
c.2170G>T	p.G724W	1	VSD	M	Tibetan	15	2	0	Y	Disease causing	Probably damaging	Damaging