Table 3 of Kim, Mol Vis 2011; 17:2093-2101.

Table 3. CYP1B1 mutations identidied in Korean probands with PCG.

Patients Nucleotide change Amino acid change Hetero-/homozygous
PCG 11 c.[243C>G]+[1090G>A] p.[Y81X]+[V364M] Compound heterozygous
PCG 17 c.[1090G>A]+[1090G>A] p.[V364M]+[V364M] Homozygous
PCG 18 c.[958G>T]+? p.[V320L]+[?] Heterozygous
PCG 20 c.[1090G>A]+? p.[V364M]+[?] Heterozygous
PCG 37 c.[958G>T]+? p.[V320L]+[?] Heterozygous
PCG 40 c.[970_971dupAT]+[985G>A] p.[T325SfsX104]+[G329S] Compound heterozygous
PCG 45 c.[55C>T]+[1103G>A] p.[Q19X]+[R368H] Compound heterozygous
PCG 46 c.1090G>A+? p.[V364M]+[?] Heterozygous
PCG 49 c.[243C>G]+[970_971dupAT] p.[Y81X]+[T325Sfs104X] Compound heterozygous
PCG 53 c.[958G>T]+? p.[V320L]+[?] Heterozygous
PCG 54 c.[988_989delGCinsTT]+[1256_1257delTG] p.[A330F]+[V419GfsX11] Compound heterozygous
PCG 55 c.[958G>T]+? p.[V320L]+[?] Heterozygous
PCG 6 c.[970_971dupAT]+[970_971dupAT] p.[T325SfsX104]+[T325SfsX104] Homozygous
PCG 69 c.[988_989delGCinsTT]+[1331G>A] p.[A330F]+[R444Q] Compound heterozygous
PCG 72 c.[988_989delGCinsTT]+? p.[A330F]+[?] Heterozygous
PCG 73 c.[958G>T]+? p.[V320L]+[?] Heterozygous
PCG 74 c.[988_989delGCinsTT]+? p.[A330F]+[?] Heterozygous
PCG 75 c.[970_971dupAT]+[1331G>A] p.[T325SfsX104]+[R444Q] Compound heterozygous
PCG 78 c.[970_971dupAT]+[1169G>A] p.[T325SfsX104]+[R390H] Compound heterozygous
PCG 84 c.[988_989delGCinsTT]+? p.[A330F]+[?] Heterozygous
PCG 86 c.[985G>A]+[985G>A] p.[G329S]+[G329S] Homozygous
PCG 100 c.[985G>A]+[?] p.[G329S]+[?] Heterozygous