|
Pos
|
Ref
|
Alt
|
Telomere %
|
Segregation
|
PPH2
|
SIFT
|
ConSurf
|
PathProx
|
Model
|
|---|
|
55
|
T
|
S
|
3%
|
Seg
|
0.00
|
1.00
|
−0.56
|
−0.02
|
N-terminal
|
|
516
|
V
|
L
|
1%
|
Seg
|
0.05
|
0.62
|
−0.15
|
0.41
|
N-terminal
|
|
540
|
S
|
A
|
2%
|
Seg
|
0.57
|
0.09
|
−0.80
|
0.21
|
N-terminal
|
|
559
|
F
|
I
|
6%
|
Seg
|
1.00
|
0.00
|
−1.11
|
0.44
|
N-terminal
|
|
688
|
S
|
C
|
1%
|
Seg
|
0.91
|
0.14
|
−0.62
|
0.27
|
N-terminal
|
|
719
|
D
|
G
|
8%
|
Seg
|
0.03
|
0.22
|
0.21
|
0.05
|
N-terminal
|
|
512
|
W
|
C
|
Unknown
|
Unknown
|
0.17
|
0.48
|
0.31
|
0.47
|
N-terminal
|
|
161
|
H
|
Q
|
Unknown
|
NonSeg
|
0.40
|
0.16
|
−0.35
|
−0.13
|
N-terminal
|
|
397
|
Q
|
E
|
94%
|
NonSeg
|
0.08
|
0.20
|
0.40
|
−0.09
|
N-terminal
|
|
528
|
A
|
E
|
58%
|
Unknown
|
0.62
|
0.05
|
−0.75
|
0.08
|
N-terminal
|
|
574
|
R
|
W
|
45%
|
NonSeg
|
0.95
|
0.00
|
−0.53
|
0.07
|
N-terminal
|
|
1107
|
P
|
L
|
6%
|
NonSeg
|
0.63
|
0.01
| |
−0.13
|
C-terminal
|
|
1110
|
F
|
L
|
Unknown
|
NonSeg
|
0
|
1
| |
−0.17
|
C-terminal
|
- Variants are grouped by evidence for pathogenicity, which is inferred from disease co-segregation and patient telomere lengths. Variants that segregate with disease and short telomeres are treated as pathogenic (Additional file 1: Figure S1). Scores in bold indicate deleterious predictions. All thresholds were applied as recommended by each method
