| 基因名 | 突变 |
|---|---|
| NEB(NM_001271208,nebulin,8560aa) | g.2:152506778C>T,c.7343G>A,p.R2448H |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152500999G>A,c.7627C>T,p.R2543W |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152500449C>G,c.7839G>C,p.K2613N |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152499804C>T,c.8020G>A,p.E2674K |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152499355T>C,c.8189A>G,p.D2730G |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152499143C>T,c.8318G>A,p.R2773Q |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152499111C>T,c.8350G>A,p.A2784T |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152496526A>G,c.8734T>C,p.S2912P |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152495810T>C,c.8978A>G,p.K2993R |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152492796C>T,c.9047G>A,p.R3016Q |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152492791C>T,c.9052G>A,p.D3018N |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152490458A>G,c.9124T>C,p.C3042R |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152490236C>T,c.9346G>A,p.E3116K |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152487808A>T,c.9467T>A,p.I3156N |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152487739del,c.9536del,p.3179fs |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152487332C>T,c.9620G>A,p.R3207H |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152487239T>A,c.9713A>T,p.N3238I |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152486108C>T,c.9776G>A,p.R3259Q |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152484315C>T,c.9865G>A,p.G3289S |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152484039C>T,c.10141G>A,p.D3381N |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152483522C>T,c.10341G>A,p.M3447I |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152477530C>T,c.10463G>A,p.R3488H |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152476254C>T,c.10583G>A,p.R3528H |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152476028C>G,c.10809G>C,p.W3603C |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152474884T>A,c.10981A>T,p.I3661F |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152474841G>A,c.11024C>T,p.T3675M |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152473911C>G,c.11148G>C,p.M3716I |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152468776T>C,c.11729A>G,p.D3910G |