COL1A1 and osteogenesis imperfecta: We identified two gene variants related to OI that accounted for 0.2% of all abnormalities: COL1A1: c.2278G > A; c.2308G > A, p.D760N; p.G770S, and COL1A2: c.1666G > T, p.Gly556Cys.