Table 2 COL1A1 variants identified in four glaucoma cases and related phenotype
From: Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
ID | Ethnicity | Gender | Glaucoma type | Age of onset | Other ocular phenotypes | OI Diagnosis | Protein alteration | ExAC_Eur | db SNP | OI Database |
|---|---|---|---|---|---|---|---|---|---|---|
MI-1 | Eur | M | PCG | 4 months | Retinal detachment | no | p.(Met264Leu) | 6,631E-05 | rs374947065 | no |
p.(Ala1083Thr) | 1,477E-05 | rs372029024 | yes | |||||||
MZ-2 | Eur | M | JOAG | 29 years | Cataract | yes | p.(Arg253*) | 0 | rs72645318 | yes |
CA-3 | Eur (Am) | F | JOAG/POAG | n/a | yes | p.(Gly767Ser) | 0 | rs72651658 | yes | |
TU-4 | Eur | M | PCG/Infantile glaucoma | 4 years | Cataract | no | p.(Gly154Val) | 0 | no | no |