Targeted next generation sequencing for molecular diagnosis of Usher syndrome

Table 2 Details about the exons studied in this targeted NGS analysis for the 14 genes analyzed

Chr	Gene	RefSec	Coding exons	Size (bp)	Coding Size (bp)	Amino acids	Alternative Ref Sec	Additional exons and the intronic USH2A region included in the study	Size (bp)	Number of exons analyzed
11	MYO7A	NM_000260.3 variant 1	48	7465	6648	2215				48
10	CDH23	NM_022124.5 variant 1	69	11134	10065	3354	NM_052836.3 variant 2	1	150	70
10	PCDH15	NM_033056.3 variant C	32	7021	5868	1955	NM_001142773.1 variant H	1	6	38
							NM_001142769.1 variant I	2	871
							NM_001142771.1 variant K	2	4469
11	USH1C	NM_153676 variant 3	27	3246	2700	899	NM_005709.3 variant 1	1	75	28
17	USH1G	NM_173477.4 variant 1	3	3565	1386	461				3
15	CIB2	NM_006383.2 variant 1	6	1580	564	187				6
1	USH2A	NM_206933.2 variant 2	71	18883	15609	5202	NC_000001.11	c.7595-2144A > G	152	71 + 1 intronic sequence
5	GPR98	NM_032119.3 variant 1	90	19333	18921	6307				90
9	DFNB31	NM_015404.3 variant 1	12	4079	2724	907	NM_001083885.2 variant 2	1	110	13
3	CLRN1	NM_174878.2 variant 1	3	2359	699	232	NM_052995.2 variant 4	1	20	4
10	PDZD7	NM_001195263.1 variant 1	17	4164	3102	1033	NM_024895.4 variant 2	1	285	18
5	HARS	NM_002109.5 variant1	13	2322	1530	509				13
17	MYO15A	NM_016239.3	65	11876	10593	3530				65
12	VEZT	NM_017599 variant 1	12	4580	2340	779	NR_038242.1 variant 2	1	74	13
Total targets										481

ISSN: 1750-1172