. Author manuscript; available in PMC: 2012 Jul 1.

Published in final edited form as: Hum Genet. 2011 May 3;130(1):149–166. doi: 10.1007/s00439-011-0984-y

Table 8.

Phenotypes, copy number variants and numbers of characterized mutations for the genes encoding miscellaneous proteins with coagulation phenotypes

Gene symbol	MIM #	Protein level		CNV		HGMD® Public
Gene symbol	MIM #	Incr.	Defic.	Gain	Loss	Misnon	Reg	Indel	Del	Splicing	Total
ADIPOQ	605441	Yes	Mice		CL	5	6	0	0	2	14
CTSG	116830	No	No			1	0	0	0	0	1
EPB41L2	603237	No	No			0	0	0	0	0	0
ESR1	133430	No	No	PG-5A		2	0	0	0	1	5
F2RL1	600933	No	Mice			0	0	0	0	0	0
F2RL2	601919	No	Mice			0	0	0	0	0	0
F2RL3	602779	No	Mice			0	0	0	0	0	0
GAS6	600441	Yes	Mice	PG-8A	PL-8A	0	0	0	0	0	0
IL4	147780	No	No			0	2	0	0	0	2
LMAN1	601567	No	Yes			8	0	14	1	6	29
LPA	152200	Yes	Yes	PG-43A	PL-44A	5	3	0	0	1	10
LRP1	107770	No	Mice			2	1	0	0	0	3
MBL2	154545	No	Yes		PL-4	3	3	0	0	0	6
MCFD2	607788	No	Yes			4	0	3	1	2	10
Total						30	15	17	2	12	80

Details as given in Table 1