Table 3.

Allele Frequency of Identified Variants Among Different Populations

Variants	Allele Count	Allele Frequency			P †	P ‡
		Present Cohort	East Asian	Global
p.G132R	2	0.008	0.0006	0.00004282	0.013	<0.001
p.G245S	1	0.004	0.0012	0.00008838	0.268	0.023
p.A275T	1	0.004	0.00033	0.00002386	0.09	0.007
p.C408R	1	0.004	0	0.000007953	0.013	0.003
p.V424F	1	0.004	0	0.00001768	0.012	0.005
p.R450H	3	0.012	0.00284	0.0002121	0.039	<0.001
p.F525S	4	0.016	0.00186	0.0001379	0.002	<0.001
p.R531W	1	0.004	0.00011	0.00002785	0.04	0.008
p.Y613C	1	0.004	0.00065	0.00004597	0.16	0.012

Notes: The data of allele frequency in East Asia and globally were quoted from gnomAD. P †: Comparison of allele frequency between the present cohort and East Asia. P ‡: Comparison of allele frequency between the present cohort and the global cohort.