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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.