Table 3.

Known F8 mutations associated with hemophilia A

Amino acid change	Exon	Domain	Minor allele frequency (%)
			Overall		AFR				AMR				EUR				EAS				SAS
			G*	E*	♀	♂	Total	E*	♀	♂	Total	E*	♀	♂	Total	E*	♀	♂	Total	E*	♀	♂	Total	E*
p.E132D	4	A1	0.03	0.01	0	0	0	0	0	0	0	0	0	0.42	0.12	0.02	0	0	0	0	0	0	0	0
p.H330R	7	A1	0.03	0.002	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.43	0	0.28	0.02
p.A303V	7	A1	0.03	N/A	0	0	0	N/A	0	0.58	0.19	N/A	0	0	0	N/A	0	0	0	N/A	0	0	0	N/A
p.T281A	7	A1	0.03	0.002	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.38	0.14	0.01
p.D422H	8	A2	0.03	0.01	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.38	0.14	0.10
p.A362=	8	a1	1.10	0.34	4.30	3.44	4.03	3.7	0	0	0	0.2	0	0	0	0.003	0	0	0	0.01	0.22	0	0.14	0.04
p.E340K	8	A1	0.08	0.02	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.43	0.38	0.41	0.16
p.E1642G	14	B	0.03	0.002	0	0	0	0	0	0	0	0	0.19	0	0.12	0.002	0	0	0	0.01	0	0	0	0
p.V1511I	14	B	0.05	0.02	0	0	0	0	0	0	0	0	0	0	0	0	0.38	0	0.26	0.23	0	0	0	0
p.R1126W	14	B	0.10	0.09	0	0	0	0	0	0	0	0	0	0	0	0.003	0	0	0	0	0.65	0.76	0.69	0.67
p.E1057K	14	B	0.08	0.06	0	0	0	0	0	0	0	0	0	0	0	0.001	0.57	0	0.38	0.78	0	0	0	0.02
p.P947R	14	B	0.03	0.003	0	0	0	0	0	0	0	0	0	0	0	0	0.19	0	0.13	0.03	0	0	0	0.009
p.D845E	14	B	0.05	0.01	0	0	0	0	0	0	0	0	0	0	0	0	0.19	0.40	0.26	0.11	0	0	0	0
p.R795G	14	B	0.16	0.04	0	0	0	0	0.28	0	0.19	0.01	0	0	0	0	0.94	0.80	0.9	0.47	0	0	0	0
p.N1824T	16	A3	0.03	0.0008	0	0	0	0	0	0	0	0	0.19	0	0.12	0.002	0	0	0	0	0	0	0	0
p.I1901=	17	A3	0.18	0.01	0	0	0	0	0	0	0	0.01	0	0	0	0	0	0	0	0	0.22	2.28	0.97	0.85
p.M2257V	25	C2	7.74	2.20	26.22	30.94	27.7	24.6	2.49	2.34	2.44	0.89	0	0.42	0.12	0.04	0	0	0	0	0	0	0	0.04
p.V2242M	25	C2	0.05	0.04	0	0	0	0	0	0	0	0	0	0	0	0	0.19	0.40	0.26	0.58	0	0	0	0

Based on the Factor VIII Variant Database (http://www.factorviii.org).

E*, MAF from ExAC Browser; G*, overall MAF in this study; N/A, not found in ExAC browser; ♀, female; ♂, male.