Table 5 of Salles, Mol Vis 2018; 24:546-559.
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 |