Table 5 of
Salles, Mol Vis 2018; 24:546-559. Table 5 of
Salles, Mol Vis 2018; 24:546-559.
Table 5. Novel variant and variants with uncertain significance.
| Patient | 35 | 38 | 32 | 27 |
|---|---|---|---|---|
| Nucleotide change | c.6250G>C | c.2007G>C | c.455G>A | c.2690C>T |
| Protein change | p.Ala2084Pro | p.Met669Ile | p.Arg152Gln | p.Thr897Ile |
| dbSNP | N/A | N/A | rs62646862 | rs61749440 |
| ClinVar | N/A | N/A | Conflicting | Conflicting |
| CADD score/pathogenicity | 34/ Deleterious | 23.9/ Deleterious | 21.5/ Deleterious | 23.6/ Deleterious |
| MutationTaster score/pathogenicity | 1/ Disease-causing | 1/ Disease-causing | 0.775/ Disease-causing | 0.989/ Disease-causing |
| SIFT score/pathogenicity | 0.019/ Deleterious | 0.189/ Tolerated | 0.124/ Tolerated | 0.188/ Tolerated |
| PolyPhen-2 HumVar score/pathogenicity | 1.000/ Damage | 0.413/ Benign | 0.015/ Benign | 0.994/ Damage |
| 1000 genomes | N/A | N/A | 0,00159744 | 0,00159744 |
| ExAC | N/A | N/A | 0,0024 | 0,0011 |
| References | Novel variant | 35 | 33 and 34 | 32 |