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