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Table 2 Statistics of the SNP count

From: Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model

SNP classification n Ratio (%) SNP classification n Ratio (%)
Missense 70.01 0.51 Hom 4012.28 29.06
Splice-site 17.97 0.13 Het 9795.97 70.94
Nonsense 0.79 0.01    
Synonymous 66.28 0.48    
5′UTRs 23.45 0.17    
3′UTRs 187.75 1.36    
Intron 13370.00 96.83    
Intergenic 72.00 0.52    
Read-through 0.00 0.00    
Total number of SNPs 13808.25
  1. The average number of single nucleotide polymorphisms (in different categories) identified by sequencing 117 genes in 76 samples.