Table 1. List of reported and novel disease-causing variants detected in this study upon sequencing of CYP1B1 gene in PCG patients.
| Family ID | Position | Nucleotide change | Protein change | Zygosity | Mutation taster prediction | dbSNP Status |
|---|---|---|---|---|---|---|
| PCG049 | EXON 2 | c.457C>G | p.Arg153Gly | Heterozygous | Disease causing | Not reported |
| EXON 2 | c.516C>A | p.Ser172Arg | Heterozygous | Disease causing | Not reported | |
| PCG050 | EXON 2 | c. 629dup | p.Gly211Argfs*13 | Homozygous | Disease causing | Not reported |
| PCG052 | EXON 2 | c.722T>A | p.Val241Glu | Homozygous | Disease causing | Not reported |
| EXON 2 | c.732G>A | p.Met244Ile | Homozygous | Disease causing | Reported | |
| PCG053 | EXON 2 | c. 287dup | p.Leu97Alafs*127 | Homozygous | Disease causing | Not reported |
| PCG054 | EXON 2 | c.662dup | p.Arg222Profs*2 | Homozygous | Disease causing | Not reported |
| EXON 2 | c.868dup | p.Arg290Profs*37 | Homozygous | Disease causing | rs67543922 | |
| PCG058 | EXON 2 | c.247del | p.Asp83Thrfs*12 | Homozygous | Disease causing | Reported |
| PCG059 | EXON 2 | c.758-759insA | p.Val254Glyfs*73 | Homozygous | Disease causing | Not reported |
| PCG060 | EXON 2 | c.740T>A | p.Leu247Gln | Heterozygous | Disease causing | Not reported |
| PCG062 | EXON 3 | c.1263T>A | p.Phe421Leu | Heterozygous | Disease causing | Not reported |
| EXON 3 | c.1314G>A | p. (=) | Heterozygous | Disease causing | Not reported | |
| PCG063 | EXON 2 | c.771T>G | p. (=) | Heterozygous | Disease causing | Not reported |
| EXON 2 | c.789dup | p.Leu264Alafs*63 | Homozygous | Disease causing | Not reported | |
| PCG067 | EXON 2 | c.724G>C | p.Asp242His | Homozygous | Disease causing | Not reported |