Gene panel sequencing in Brazilian patients with retinitis pigmentosa

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

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

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

ISSN: 2056-9920