Mutations of patients with combined factor V and VIII deficiency
Gene	Mutation	Location	Type	Genotype	Origin	Comments	Reference
LMAN1	Met1*	Exon 1	Initiation codon	Hom	Italy		1,2
LMAN1	nt 23 del G	Exon 1	Frame shift	Hom	Iran		2
LMAN1	nt 31 del G	Exon 1	Frame shift	Hom	Algeria		2
LMAN1	nt 89 ins G*	Exon 1	Frame shift	Hom	Middle Eastern Jewish	Founder effect	1,2,3,4
LMAN1	nt 89 ins G*	Exon 1	Frame shift	Hom	Iran		2
LMAN1	nt 89 ins G* nt 912 ins A*	Exon 1 Exon 8	Frame shift Frame shift	Comp het	Iran		2
LMAN1	nt 422 del C Undefined	Exon 3	Frame shift	Comp het	Japan		1
LMAN1	Arg202stop*	Exon 5	Nonsense	Hom	Japan		1,5
LMAN1	Arg202stop*	Exon 5	Nonsense	Hom	Iran		2
LMAN1	IVS5+1G>T	Intron 5	Splicing	Hom	Italy		2
LMAN1	nt 720 del 16bp	Exon 6	Frame shift	Hom	Venezuela		1
LMAN1	nt 822 G>A	Exon 7	Splicing	Hom	Iran		2
LMAN1	Lys302stop*	Exon 8	Nonsense	Hom	Pakistan		2
LMAN1	Lys302stop*	Exon 8	Nonsense	Hom	France		1
LMAN1	nt 912 ins A*	Exon 8	Frame shift	Hom	Iran		2
LMAN1	nt 1109 del TC	Exon 9	Frame shift	Hom	USA		1
LMAN1	IVS9+2 T>G	Intron 9	Splicing	Hom	Iran		2
LMAN1	IVS9+2 T>C*	Intron 9	Splicing	Hom	Tunisian Jewish	Founder effect	1,3,4,6
LMAN1	nt 1208 ins T	Exon 10	Frame shift	Hom	Italy		2
LMAN1	nt 1214 del 5 bp	Exon 10	Frame shift	Hom	Iran		2
LMAN1	Arg456stop*	Exon 11	Nonsesnse	Hom	China		2
LMAN1	Arg456stop*	Exon 11	Nonsesnse	Hom	Pakistan		2
LMAN1	nt 1524 del A	Exon 13	Frame shift	Hom	USA (Armenian)		1
MCFD2	IVS2+5 G>A*	Intron 2	Splicing	Hom