Table 2 of Murro, Mol Vis 2021; 27:542-554.


Table 2. Genetic results.

Family ID Coding DNA change Exon Effect Protein Type Pathogenicity Prediction Reported in literatures
F1 c.461delC 2 p.Pro154Glnfs4* Frameshift Uncertain significance Novel
F2 c575C>T 3 p.Pro192Leu Missense Uncertain significance Novel
F3 c.481C>T 3 p.Arg161Ter Nonsense Pathogenic Yes
F4 c.337C>T 1 p.Arg113Ter Nonsense Pathogenic Yes
F5 c.337C>T 1 p.Arg113Ter Nonsense Pathogenic Yes
F6 c.341+1_341–1(463*1_?) 1–3 c.341+1_341–1(463*1_?) Genomic deletion Pathogenic Yes
F7 c.355T>C 1 p.Phe119Leu Missense Pathogenic Yes
F8 c.154G>T 1 p.Glu52Ter Nonsense Uncertain significance Yes
F9 c.194C>G 1 p.Ser65Trp Missense Pathogenic Yes
F10 c.524A>G 3 p.Tyr175Cys Missense Pathogenic Yes