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 |