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