Table 2 Mutations of mutated genes in at least 6 patients.
Gene | Mutation proportion (%) | Mutation information |
|---|---|---|
MEGF8 | 60 | rs377748543, rs370522595, 3 novel mutations |
ITPR1 | 60 | rs752791333, rs773763162, 3 novel mutation |
DYSF | 60 | rs573666770, 4 novel mutations |
DNAH10 | 60 | rs148844278, rs748343428, 2 novel mutations |
CUL7 | 60 | rs757730802, rs373305024, 3 novel mutations |
TTN | 70 | rs372496072, rs35683768, rs878903962, rs373854384, rs371908649, 3 novel mutations |
MYH14 | 60 | rs762779652, rs140118363, 4 novel mutations |
LRP1 | 60 | rs199726731, 9 novel mutations |
ASTN1 | 60 | 6 novel mutations |
ASH1L | 70 | 6 novel mutations |
MYH11 | 70 | rs751495086, rs757099566, 4 novel mutations |
KMT2C | 100 | rs2479172, rs28522267, rs77735469, rs201062304, rs28522267 |