Table 3.

Phenotypes, copy number variants and numbers of characterized mutations for the genes encoding the proteins that regulate coagulation

Gene symbol	MIM #	Protein level		CNV		HGMD® Public
		Incr.	Defic.	Gain	Loss	Misnon	Reg	Indel	Del	Splicing	Total
ADAMTS13	604134	No	Yes			49	0	9	2	6	66
CPB2	603101	Yes	Yes		PL-10A	2	0	0	0	0	2
HABP2	603924	Estro	No			1	0	0	0	0	1
HRG	142640	Yes	Yes		CL	1	0	0	0	0	1
PROC	612283	Yes	Yes			193	11	33	2	23	262
PROCR	600646	Yes	Mice			1	2	0	0	0	5
PROS1	176880	No	Yes	PD-8	CL	131	3	37	5	20	197
PROZ	176895	Yes	Yes	PG-1		3	1	0	0	1	5
SERPINA1	107400	No	Yes	CG		27	3	6	2	2	41
SERPINA10	605271	Yes	Yes			5	0	0	0	0	5
SERPINA5	601841	No	No			0	0	0	0	0	0
SERPINC1	107300	Yes	Yes		CL	123	0	68	12	12	218
SERPIND1	142360	No	Yes			3	0	2	0	0	5
SERPINE1	173360	Yes	Yes	CG		1	1	2	0	0	4
SERPINF2	613168	No	Yes	PG-8A	CL	2	0	4	0	1	7
SERPING1	606860	Estro	Yes	CG		83	2	59	29	19	196
SPINT2	605124	No	Yes			0	0	0	0	0	0
TFPI	152310	Yes	No	PG-7A	PL-7A	2	0	0	0	1	3
TFPI2	600033	No	No			0	0	0	0	0	0
THBD	188040	Yes	No		PL-1	7	3	3	0	0	13
THBS1	188060	No	Mice			1	0	0	0	0	1
THBS2	188061	No	Mice	PG-1	PL-1	0	0	0	0	0	0
THBS3	188062	No	No		CL	0	0	0	0	0	0
THBS4	600715	No	No			1	0	0	0	0	1
VTN	193190	Yes	Mice			0	0	0	0	0	0
Total						636	26	223	52	85	1,033

Details as given in Table 1

PD-8 partial duplication aVecting eight exons