List of non-coding variants covered by
Hereditary Spastic Paraplegia NGS panel
Gene | Non-coding variant |
BTD | c.310-15delT |
GBE1 | c.2053-3358_2053-3350delGTGTGGTGGinsTGTTTTTTACATGACAGGT |
GJC2 | c.-170A>G |
GJC2 | c.-167A>G |
GJC2 | c.-20+1G>C |
L1CAM | c.2432-19A>C |
L1CAM | c.523+12C>T |
L1CAM | c.2209-42_2229del |
PAH | c.1199+17G>A |
PAH | c.1066-11G>A |
PAH | c.169-13T>G |
PLP1 | c.454-314T>G |
PLP1 | c.454-312C>G |
PLP1 | c.453+159G>A |
PLP1 | c.453+164G>A |
TH | c.1198-24T>A |
TH | c.-70G>A |
TH | c.-71C>T |