Table 2.
Summary statistics for targeted sequencing of 45 cataracts genes in the proband
| Gene | OMIM diseases | Transcript | Number of coding exons | Sizes (bp) | Sequencing depth (X) | Coverage rate (%) | ||
|---|---|---|---|---|---|---|---|---|
| >1X | >4X | >10X | ||||||
| ABHD12 | #612674 (AR, Sa) | NM_015600.4 | 13 | 1215 | 192 | 99.26 | 84.28 | 84.28 |
| AGK | #614691 (AR, NSa) | NM_018238.3 | 16 | 1269 | 270 | 100.00 | 100.00 | 100.00 |
| BEST1 | #193220 (AD, NS) | NM_001139443.1 | 9 | 1815 | 320 | 100.00 | 100.00 | 100.00 |
| BFSP1 | #611391 (AR, NS) | NM_001195.3 | 8 | 1998 | 272 | 99.95 | 97.00 | 85.44 |
| BFSP2 | #611597 (AD, NS) | NM_003571.2 | 7 | 1248 | 164 | 100.00 | 100.00 | 100.00 |
| CHMP4B | #605387 (AD, NS) | NM_176812.4 | 5 | 675 | 214 | 100.00 | 100.00 | 100.00 |
| CNBP | #602668 (AD, S) | NM_001127192 | 4 | 513 | 155 | 97.87 | 94.92 | 93.94 |
| CRYAA | #604219 (AD, NS) | NM_000394.2 | 3 | 522 | 154 | 100.00 | 100.00 | 100.00 |
| CRYAB | #613763 (AD/AR, NS) | NM_001885.1 | 3 | 528 | 313 | 100.00 | 100.00 | 100.00 |
| CRYBA1 | #600881 (AD, NS) | NM_005208.4 | 6 | 648 | 245 | 100.00 | 100.00 | 100.00 |
| CRYBA4 | #610425(AD/AR, NS) | NM_001886.2 | 6 | 591 | 141 | 100.00 | 100.00 | 100.00 |
| CRYBB1 | #611544 (AD/AR, NS) | NM_001887.3 | 6 | 759 | 145 | 100.00 | 100.00 | 100.00 |
| CRYBB2 | #601547 (AD, NS) | NM_000496.2 | 6 | 618 | 194 | 100.00 | 100.00 | 100.00 |
| CRYBB3 | #609741 (AD/AR, NS) | NM_004076.3 | 6 | 636 | 144 | 100.00 | 100.00 | 100.00 |
| CRYGC | #604307 (AD, NS) | NM_020989.3 | 3 | 525 | 179 | 100.00 | 100.00 | 100.00 |
| CRYGD | #115700 (AD, NS) | NM_006891.3 | 3 | 525 | 179 | 100.00 | 100.00 | 100.00 |
| CRYGS | #116100 (AD, NS) | NM_017541.2 | 3 | 537 | 364 | 100.00 | 100.00 | 100.00 |
| CTDP1 | #604168 (AR, S) | NM_004715.4 | 13 | 2886 | 126 | 92.31 | 89.12 | 89.12 |
| EPHA2 | #116600 (AD, NS) | NM_004431.3 | 17 | 2931 | 150 | 100.00 | 97.10 | 97.10 |
| EYA1 | #113650 (AD, S) | NM_000503.4 | 18 | 1779 | 314 | 100.00 | 100.00 | 100.00 |
| FTL | #600886 (AD, S) | NM_000146.3 | 4 | 528 | 131 | 100.00 | 100.00 | 100.00 |
| FYCO1 | #610019 (AR, NS) | NM_024513.3 | 18 | 4437 | 194 | 100.00 | 100.00 | 100.00 |
| GALK1 | #230200 (AR, S) | NM_000154.1 | 8 | 1179 | 80 | 100.00 | 100.00 | 100.00 |
| GCNT2 | #110800 (AR, S) | NM_145649.4 | 5 | 1209 | 421 | 100.00 | 100.00 | 100.00 |
| GFER | #613076 (AR, S) | NM_005262.2 | 3 | 618 | 120 | 100.00 | 95.63 | 73.46 |
| GJA1 | #257850 (AR, S) | NM_000165.3 | 2 | 1149 | 371 | 100.00 | 100.00 | 100.00 |
| GJA3 | #601885 (AD, NS) | NM_021954.3 | 2 | 1308 | 127 | 100.00 | 100.00 | 100.00 |
| GJA8 | #116200 (AD, NS) | NM_005267.4 | 2 | 1302 | 270 | 100.00 | 100.00 | 100.00 |
| HSF4 | #116800 (AD, NS) | NM_001040667.2 | 15 | 1479 | 125 | 100.00 | 100.00 | 98.24 |
| JAM3 | #613730 (AR, S) | NM_032801.4 | 9 | 933 | 275 | 100.00 | 100.00 | 100.00 |
| LEPREL1 | #614292 (AR, NS) | NM_018192.3 | 15 | 2127 | 191 | 100.00 | 99.76 | 92.57 |
| LIM2 | #615277 (AR, NS) | NM_030657.3 | 5 | 648 | 166 | 100.00 | 100.00 | 100.00 |
| MAF | #610202 (AD, NS) | NM_005360.4 | 2 | 1212 | 100 | 79.04 | 76.32 | 73.10 |
| MIP | #615274 (AD, NS) | NM_012064.3 | 4 | 792 | 204 | 100.00 | 100.00 | 100.00 |
| NHS | #302200 (XD, NS and S) | NM_198270.2 | 8 | 4893 | 355 | 97.06 | 95.26 | 90.88 |
| OPA3 | #165300 (AD, S) | NM_001017989.2 | 2 | 543 | 75 | 100.00 | 100.00 | 100.00 |
| PAX6 | #106210 (AD, S) | NM_001258462.1 | 14 | 1311 | 283 | 100.00 | 100.00 | 100.00 |
| PITX3 | #610623 (AD, NS) | NM_005029.3 | 4 | 909 | 59 | 100.00 | 100.00 | 100.00 |
| RAB3GAP2 | #212720 (AR, S) | NM_012414.3 | 35 | 4182 | 327 | 100.00 | 100.00 | 100.00 |
| SIL1 | #248800 (AR, S) | NM_001037633.1 | 11 | 1386 | 193 | 100.00 | 100.00 | 100.00 |
| SIX6 | #212550 (AR, S) | NM_007374.2 | 2 | 741 | 206 | 100.00 | 100.00 | 100.00 |
| SLC16A12 | #612018 (AD, NS) | NM_213606.3 | 8 | 1551 | 334 | 100.00 | 100.00 | 100.00 |
| SLC33A1 | #614482 (AR, S) | NM_004733.3 | 6 | 1650 | 391 | 100.00 | 100.00 | 100.00 |
| TDRD7 | #613887 (AR, NS) | NM_014290.2 | 17 | 3297 | 368 | 100.00 | 100.00 | 100.00 |
| VIM | #116300 (AD, NS) | NM_003380.3 | 10 | 1401 | 201 | 100.00 | 100.00 | 100.00 |
| Total | 366 | 63,003 | 218 | 99.23 | 98.43 | 97.29 | ||
OMIM: Online Mendelian Inheritance in Man; AR: Autosomal recessive; AD: Autosomal dominant; XD: X-linked dominant; S: Syndromic; NS: Non-syndromic.