Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes

Table 2 Nonsynonymous single nucleotide variants in anticoagulant genes.

Gene	Chromosome	Coordinate	Substitution	Transcript ID	Protein change	dbSNP129	1000 Genomes CEU population, allele frequency	SIFT^a	Polyphen 2^b	Alleles cases	Alleles controls
PROC	chr2	127895370	C > T	NM_000312	p.R38W	Novel	not present	Dam	Prd	2	0
		127902716	C > A		p.H370Q	Novel	not present	Ben	Ben	1	0
SERPINC1	chr1	172150549	G > A	NM_000488	p.P58L	Novel	not present	Dam	Pod	1	0
PROZ	chr13	112861006	C > G	NM_003891	p.L11V	Novel	not present	Ben	Ben	3	0
		112874101	G > A		p.R295H	rs3024772	not present	Ben	Prd	2	2

a SIFT-based annotation results, Dam indicates that the mutation is predicted to affect protein function (i.e. 'damaging'), Ben indicates that the mutation is predicted to be tolerated (i.e.'benign').
b Polyphen 2-based annotation results. Prd indicates that the mutation is predicted to be 'probably damaging', Pod indicates that the mutation is predicted to be 'possibly damaging', Ben indicates that the mutation is predicted to be 'benign'.

ISSN: 1755-8794