Table 2.

Phenotypes, copy number variants and numbers of characterized mutations for the genes encoding members of the fibrinolysis and kallikrein-kinin pathways (the contact system)

Gene symbol	MIM #	Protein level		CNV		HGMD® Public
		Incr.	Defic.	Gain	Loss	Misnon	Reg	Indel	Del	Splicing	Total
F12	610619	Yes	Yes		CL	13	2	2	0	2	19
KLKB1	229000	No	Yes			6	0	0	0	0	6
KNG1	612358	Estro	Yes		CL	2	0	0	0	0	2
PLAT	173370	Yes	Yes		PL-6A	0	1	0	0	0	2
PLAU	191840	Yes	No	TD		1	0	0	0	0	1
PLG	173350	No	Yes	CG		19	0	5	0	0	24
Total						41	3	7	0	2	54

Details as given in Table 1

TD tandem duplication