Table 3 of
Sheikh, Mol Vis 2014; 20:991-1001. Table 3 of
Sheikh, Mol Vis 2014; 20:991-1001.
Table 3. Haplotypes associated with CYP1B1 mutations in Pakistani PCG patients.
| Family | Mutation | rs2617266 | rs10012 | rs1056827 | rs1056836 | rs1056837 | rs1800440 |
|---|---|---|---|---|---|---|---|
| LUGL02 | p.R390H | C | C | G | C | C | G |
| LUGL03 | p.R390H | C | C | G | C | C | G |
| LUGL15 | p.R390H | C | C | G | C | C | G |
| LUGL17 | p.R390H | C | C | G | C | C | G |
| LUGL19 | p.R390H | C | C | G | C | C | G |
| LUGL06 | p.A115P | C | C | G | G | T | A |
| LUGL07 | p.E229K | T | G | T | C | C | A |
| LUGL08 | p.G67-A70del | T | G | T | C | C | A |
| LUGL09 | p.G36D | C | C | G | C | C | G |
| LUGL13 | c.868_869insC | C | C | G | G | T | A |