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

From: Targeted next generation sequencing for molecular diagnosis of Usher syndrome

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