. 2022 Mar 30;15:795840. doi: 10.3389/fnmol.2022.795840

TABLE 2.

Analysis of the aggregate frequency of AFF2 mutations identified in this study.

	Allele count/number in this study (%)	Allele count/number in male controls of gnomAD-all populations (%)	Allele count/number in male controls of gnomAD-East Asian populations (%)
*Identified AFF2* mutations**
chrX:147743478 (c.230A > T/p.N77I)	1/230 (0.43)	-/-	-/-
chrX:147743639(c.391C > T/p.H131Y)	1/230 (0.43)	-/-	-/-
chrX:148035252(c.1540C > T/p.R514C)	1/230 (0.43)	-/-	-/-
chrX:148037584(c.2009G > A/p.R670H)	1/230 (0.43)	-/-	-/-
chrX:148037649(c.2074C > G/p.P692A)	1/230 (0.43)	-/-	-/-
Total	5/230 (2.17)	0/46329 (0)	0/3058 (0)
p-value		2.82 × 10^–12	1.61 × 10^–6
OR (95% CI)		Inf (186.76–Inf)	Inf (12.33–Inf)

p-values and odds ratio were estimated with two-sided Fisher’s exact test.

CI, confidence interval; gnomAD, Genome Aggregation Database; OR, odds ratio.