Table 3 of Frio, Mol Vis 2009; 15:2627-2633. Table 3 of Frio, Mol Vis 2009; 15:2627-2633.
Table 3. Variants detected in patients V-4/PMK146 and IV7/IIS-2.
| Patient | Variant # | dbSNP entry | HGVS name (position) |
|---|---|---|---|
| V-4/PMK146 | 1 | rs10469944 | NT_022184.14:g.42632605C>G |
| 2 | rs10469945 | NT_022184.14:g.42632709T>C | |
| 3 | rs6546018 | NT_022184.14:g.42633355G>T | |
| 4 | rs6546019 | NT_022184.14:g.42633373A>G | |
| 5 | rs1446569 | NT_022184.14:g.42634247C>G | |
| 6 | rs4671519 | NT_022184.14:g.42636331C>T | |
| 7 | rs2305157 | NT_022184.14:g.42638718T>C | |
| 8 | rs10865340 | NT_022184.14:g.42639982C>G | |
| 9 | rs10865341 | NT_022184.14:g.42639983A>T | |
| 10 | rs11125979 | NT_022184.14:g.42640239T>G | |
| 11 | rs4671069 | NT_022184.14:g.42641337C>A | |
| 12 | rs1255 | NT_022184.14:g.42641867T>C | |
| 13 | rs7606045 | NT_022184.14:g.42642461T>G | |
| 14 | rs964880 | NT_022184.14:g.42642865C>A | |
| 15 | rs2121351 | NT_022184.14:g.42644294G>A | |
| 16 | rs262470 | NT_022184.14:g.42646492C>T | |
| 17 | rs262471 | NT_022184.14:g.42646802G>A | |
| 18 | rs2604613 | NT_022184.14:g.42648709G>A | |
| 19 | rs262472 | NT_022184.14:g.42649549G>A | |
| 20 | rs262473 | NT_022184.14:g.42649746G>T | |
| 21 | rs262474 | NT_022184.14:g.42650552A>G | |
| 22 | rs262489 | NT_022184.14:g.42652200G>A | |
| 23 | rs262490 | NT_022184.14:g.42653584A>G | |
| IV-7/IIS-2 | 1 | NR | NT_022184.14:g.42645344C>G |
| 2 | NR | NT_022184.14:g.42648177T>A |