List of non-coding variants covered by
Charcot-Marie-Tooth NGS panel
Gene | Non-coding variant |
CTDP1 | c.863+389C>T |
GJB1 | c.-103C>T |
GJB1 | c.-17G>A |
GJB1 | c.-17+1G>T |
GJB1 | c.-17+2T>C |
GJB1 | c.-16-2A>G |
GJB1 | c.-16-1G>A |
HK1 | c.-390-3838G>C |
HK1 | c.-390-3818G>C |
IGHMBP2 | c.1235+894C>A |
LMNA | c.513+45T>G |
LMNA | c.1609-12T>G |
NTRK1 | c.851-33T>A |
NTRK1 | c.2206-11G>A |
SEPT9 | c.-134G>C |
SURF1 | c.324-11T>G |