| 基因名 | 突变 |
|---|---|
| NECAB2(NM_019065,N-terminal EF-hand calcium binding protein 2,386aa) | g.16:84028014C>G,c.704C>G,p.T235S |
| NECAB2(NM_019065,N-terminal EF-hand calcium binding protein 2,386aa) | g.16:84027968G>A,c.658G>A,p.A220T |
| NECAB2(NM_019065,N-terminal EF-hand calcium binding protein 2,386aa) | g.16:84024163A>G,c.524A>G,p.N175S |
| NECAB2(NM_019065,N-terminal EF-hand calcium binding protein 2,386aa) | g.16:84012114G>C,c.292G>C,p.E98Q |
| NECAB1(NM_022351,N-terminal EF-hand calcium binding protein 1,351aa) | g.8:91953107T>C,c.841T>C,p.S281P |
| NECAB1(NM_022351,N-terminal EF-hand calcium binding protein 1,351aa) | g.8:91953092G>A,c.826G>A,p.V276M |
| NECAB1(NM_022351,N-terminal EF-hand calcium binding protein 1,351aa) | g.8:91953077G>T,c.811G>T,p.A271S |
| NECAB1(NM_022351,N-terminal EF-hand calcium binding protein 1,351aa) | g.8:91940469A>G,c.635A>G,p.N212S |
| NECAB1(NM_022351,N-terminal EF-hand calcium binding protein 1,351aa) | g.8:91929735T>G,c.373T>G,p.S125A |
| NECAB1(NM_022351,N-terminal EF-hand calcium binding protein 1,351aa) | g.8:91837001A>T,c.181A>T,p.S61C |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152584316_152584330del,c.169_183del,p.57_61del |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152582014T>C,c.355A>G,p.T119A |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152581452A>T,c.426T>A,p.D142E |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152581409T>C,c.469A>G,p.I157V |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152580847T>C,c.539A>G,p.K180R |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152580815C>G,c.571G>C,p.E191Q |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152567012T>C,c.863A>G,p.K288R |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152566961T>C,c.914A>G,p.D305G |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152553170T>C,c.1550A>G,p.N517S |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152552144G>C,c.1622C>G,p.P541R |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152550904C>T,c.1829G>A,p.G610E |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152548874T>A,c.1899A>T,p.R633S |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152544903T>C,c.2318A>G,p.Y773C |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152544030T>C,c.2540A>G,p.D847G |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152543967A>G,c.2603T>C,p.L868P |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152541356T>G,c.2771A>C,p.Y924S |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152536498T>A,c.3081A>T,p.K1027N |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152536299T>C,c.3191A>G,p.Y1064C |