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