Table 3 of
Abu-Amero, Mol Vis 2011; 17:2911-2919. Table 3 of
Abu-Amero, Mol Vis 2011; 17:2911-2919.
Table 3. CYP1B1 mutation-screening in PCG patients.
| CYP1B1 mutations | ||||||
|---|---|---|---|---|---|---|
| Proband I.D. | Sex | Mutation (1) | Mutation (2) | Mutation (3) | Cons | Mode of inheritance |
| 109 | F | g.8147 C > T | - | - | Yes | Recessive |
| 120 | M | g.3987 G > A | - | - | No | Pseudo D |
| 237 | M | g.3987 G > A | - | - | Yes | Recessive |
| 259 | M | g.3987 G > A | - | - | Yes | Recessive |
| 262 | F | g.8006 G > A | - | - | Yes | Recessive |
| 267 | F | g.3987 G > A | - | - | No | Recessive |
| 270 | M | - | - | - | No | Recessive |
| 274 | F | g.8234 G>A | - | - | Yes | Recessive |
| 296 | M | g.3987 G>A | - | - | Yes | Recessive |
| 305 | M | g.3987 G>A | - | - | Yes | Recessive |
| 307 | M | - | - | - | No | Recessive |
| 314 | M | g.3987 G>A | g.4238_4247 del | - | No | Recessive |
| 329 | M | - | - | - | Yes | Recessive |
| 338 | F | g.3987 G>A | g.8233 G>A | - | No | Recessive |
| 494 | M | g.8242 C >T | - | - | Yes | Recessive |
| 505 | F | g.3987 G>A | - | - | No | Recessive |
| 517 | F | g.3987 G>A | - | - | Yes | Recessive |
| 556 | F | g.3987 G>A | - | - | Yes | Recessive |
| 624 | M | - | - | - | No | Recessive |
| 631 | F | g.3987 G>A | g.7900 C>T | - | Yes | Recessive |
| 638 | M | - | - | - | No | Recessive |
| 675 | M | g.8167 C >T | - | - | Yes | Recessive |
| 696 | F | g.3987 G>A | - | - | Yes | Recessive |
| 702 | F | - | - | - | No | Recessive |
| 752 | M | - | - | - | No | Recessive |
| 819 | F | - | - | - | Yes | Recessive |
| 839 | F | g.3987 G>A | - | - | Yes | Recessive |
| 844 | M | - | - | - | No | Pseudo D |
| 849 | M | g.3987 G>A | - | - | Yes | Recessive |
| 873 | F | g.3987 G>A | - | - | Yes | Recessive |
| 896 | M | g.3987 G>A | - | - | Yes | Recessive |
| 922 | M | g.3987 G>A | - | - | Yes | Pseudo D |
| 950 | F | g.3987 G>A | - | - | Yes | Recessive |
| 973 | F | - | - | - | Yes | Recessive |
| 979 | M | g.3987 G>A | - | - | No | Recessive |
| 1041 | F | g.3987 G>A | - | - | Yes | Recessive |
| 1114 | M | g.3987 G>A | - | - | Yes | Recessive |
| 1124 | F | g.3987 G>A | - | - | Yes | Recessive |
| 1125 | M | - | - | - | Yes | Recessive |
| 1130 | F | - | - | - | No | Recessive |
| 1136 | F | g.3987 G>A | - | - | Yes | Recessive |
| 1208 | M | g.3987 G>A | - | - | Yes | Recessive |
| 1246 | M | g.3987 G>A | - | - | Yes | Recessive |
| 1281 | F | g.3987 G>A | g.8165 C>G | g.8159 A>G | No | Recessive |
| 1297 | F | g.3987 G>A | - | - | Yes | Recessive |
| 1472 | M | 7901_7913 del | - | - | Yes | Recessive |
| 1481 | M | g.3987 G>A | g.4160 G>T | - | No | Recessive |
| 1541 | M | g.3987 G>A | - | - | Yes | Recessive |
| 1724 | M | - | - | - | Yes | Recessive |
| 2147 | F | g.3987 G>A | - | - | Yes | Recessive |
| 2154 | F | g. 8242 C>T | - | - | Yes | Recessive |
| 2266 | M | g.3987 G>A | g.4160 G>T | - | No | Recessive |
| 2303 | M | g.3987 G>A | - | - | Yes | Recessive |
| 2333 | F | g.3987 G>A | - | - | Yes | Pseudo D |