Variant |
Conservation Score |
Conservation
Score |
Conservation Score |
Predicted Effect |
Predicted Effect |
|
GERP†
|
PhyloP
100Way‡
|
PhastCons
100Way§
|
CADD
C-score
|
Mutation
Taster
|
c.-3098C>T¶
|
3.98 |
0.22 |
0.998 |
16.2 |
Disease Causing |
c.-3065A>T |
4.51 |
3.53 |
0.984 |
20.2 |
Disease
Causing |
c.426+326G>A |
4.17 |
4.85 |
1.000 |
19.7 |
Disease
Causing |
c.427-218A>C |
4.15 |
2.98 |
1.000 |
19.1 |
Disease
Causing |