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 |
N/A, Not available