Table 3. CYP1B1 mutations found in PCG patients of Pakistani origin.

No.	Mutation		No. of alleles	CYP1B1 alleles percentage (%)	Associated haplotype of six SNPs	References
	Nucleotide change	Amino acid change
1	c.1169G>A	p.R390H	46	45	C-C-G-C-C-GC-C-G-G-T-A	11,17,21
2	c.685G>A	p.E229K	6	6	T-G-T-C-C-A	11,17,21
3	c.1103G>A	p.R368H	4	4	NA	17
4	c.1405C>T	p.R469W	2	2	NA	17
5	c.1300T>C	p.W434R	2	2	NA	17
6	c.1331G>A	p.R444Q	2	2	NA	17
7	c.241T>A	p.Y81N	2	2	NA	17
8	c.107G>Aa	p.G36D	2	2	C-C-G-C-C-G	11
9	c.198_209del 12a	p.G67-70V	2	2	T-G-T-C-C-A	11
10	c.868-869 InCa	p.R290Pfs37*	4	4	C-C-G-G-T-A	21
11	c.746G>C	p.A115P	2	2	C-C-G-G-T-A	11
12	c.1200_1209dup	p.T404Sfs30*	2	2	NA	17
13	c.736_737insTa	p.W246Lfs81*	2	2	NA	17
14	c.1325delCa	p.P442Qfs15*	2	2	NA	17
15	c.109C>T	p.Q37*	2	2	NA	17
16	c.1063C>T	p.R355*	2	2	NA	21
17	c.862G>Ca	p.A288P	2	2	NA	21
18	c.725A>Ca	p.D242A	2	2	NA	21
19	c.1460T>Ga	p.L487P	2	2	T-G-T-C-C-A	22
20	c.530T>Ga	p.L177R	2	2	C-C-G-G-T-A	22
21	c.1122C>Ga	p.D374E	2	2	T-G-T-C-C-A	22
22	c.1311G>A	p. P437L	2	2	C-C-G-G-T-A	This study
23	c.1090G>A	p.V364M	2	2	C-C-G-C-C-G	This study
24	c.1048C>Aa	p.(P350T)	2	2	C-C-G-C-C-G	This study
25	c.37C>T; c.38T>Aa	p.(L13*)	2	2	T-G-T-C-C-A	This study
Total			102	100

NA: Not available. ^aReported first in Pakistani PCG patients.