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Table 2 Nonsynonymous single nucleotide variants in anticoagulant genes.

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

Gene Chromosome Coordinate Substitution Transcript ID Protein change dbSNP129 1000 Genomes CEU population, allele frequency SIFTa Polyphen 2b 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
  1. 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').
  2. 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'.