Table 2. CYP1B1 haplotypes associated with CYP1B1 mutations in Pakistani PCG patients.
Family | Mutation | rs2617266 (-12T>C) | rs10012 (p.R48G) | rs1056827 (p.A119S) | rs1056836 (p.L432V) | rs1056837 (p.D449D) | rs1800440 (p.N453S) |
PCG-22 | p.R390H | C | C | G | C | C | G |
PCG-23 | p.R390H | C | C | G | C | C | G |
PCG-26 | p.R390H | C | C | G | C | C | G |
PCG-27 | p.R390H | C | C | G | G | T | A |
PCG-24 | p.P437L | C | C | G | C | T | A |
PCG-28 | p.P350T; p.V364M | C | C | G | C | C | G |
GLIU-01 | p.(L13*) | T | G | T | C | C | A |