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Table 4 Total of 9.707 variations found (benign, pathogenic and unknown)

From: Gene panel sequencing in Brazilian patients with retinitis pigmentosa

Patient Coverage of gaps (%) Varistions found Variations confirmed by Sanger sequencing Intronic variations Missense variations Deletions Insertions Synonymous variations
1 73.0 557 7 2 2 0 0 3
2 93.0 573 13 6 5 0 0 2
3 94.4 634 8 3 4 0 0 1
4 96.0 632 19 4 12 0 0 3
5 91.0 391 10 1 8 0 0 1
6 95.0 623 13 6 6 1 0 0
7 86.0 638 17 4 7 2 0 4
8 95.0 697 12 2 6 2 0 2
9 93.0 622 15 4 4 0 0 7
10 85.0 660 9 3 6 0 0 0
11 95.0 590 9 0 9 0 0 0
12 95.0 554 9 1 5 0 0 3
13 95.0 691 2 0 2 0 0 0
14 92.0 685 23 7 6 1 1 8
15 94.0 564 8 3 4 0 0 1
16 93.0 596 11 1 6 0 1 4
Total = 16 Average coverage of Gaps = 92 9.707 186 47 92 6 2 39
  1. Classification of the variations found: total of 186 variations candidates to be causative to retinitis pigmentosa and confirmed by Sanger sequencing, 47 intronic variations, 92 missense variations, 6 deletions and 2 insertions, coverage gaps with an average of 92% achieved by Sanger sequencing after next generation sequencing and 39 synonymous variants identified in this study