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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
  1. Ethnicity: Eur European, Am American, Gender: F female, M male; Glaucoma Type: PCG primary congenital glaucoma, JOAG juvenile open angle glaucoma, POAG primary open angle glaucoma, OI osteogenesis imperfecta, ExAC_Eur Exome Aggregation Consortium European