Table 4. Mutations in Indian patients with combined Factor V and Factor VIII deficiencies.

Sr. no.	Patient Nos.	Gene/Location	Nucleotide change	Amino acid change	Polymorphisms	Reference
1	1	MCFD2, Exon 4	§c.A365T	p.Asp122Val	c.764–10delT	[9]
2	2	MCFD2, Intron 2	$c.G149+5A	-	c.A351G (p.Arg117Arg)
				-	c.539+11delGT
				-	c.764–10delT
	3, 4	MCFD2, Intron 2	$c.G149+5A	-	c.764–10delT
	5	MCFD2, Intron 2	$c.G149+5A	-	c.A351G (p.Arg117Arg)
		MCFD2		-	c.539+11delGT
		MCFD2		-	c.764–10delT
	6	MCFD2, Intron 2	$c.G149+5A	-	c.764–10delT
3	7,8	MCFD2, Exon 3	§$c.210_244del35	p.Glu71fs	c.764–10delT
4	9	MCFD2, Intron 2	IVS2+5(Homo)	-	-
	10	MCFD2, Intron 2	IVS2+5(Homo)	-	-
5	1	LMAN1, Exon 7	§c.813_822+62del72	p.Lys302fs	c.764–10delT	[9]
6	2	LMAN1, Exon 2	c.G340T	p.Gly114*	-	[10]

^§Novel variations, $ Common variations.