| 基因名 | 突变 |
|---|---|
| NEB(NM_001271208,nebulin,8560aa) | g.2:152402878C>T,c.20447G>A,p.R6816Q |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152397972G>A,c.20671C>T,p.L6891F |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152394444G>C,c.21044C>G,p.S7015C |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152392255C>T,c.21262G>A,p.D7088N |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152390806G>A,c.21340C>T,p.R7114W |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152390805C>T,c.21341G>A,p.R7114Q |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152385774C>G,c.21790G>C,p.D7264H |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152383521C>T,c.21961G>A,p.D7321N |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152382685T>A,c.22142A>T,p.N7381I |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152382511G>C,c.22227C>G,p.D7409E |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152376258T>C,c.22609A>G,p.K7537E |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152372974C>T,c.23009G>A,p.G7670E |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152370831C>T,c.23232+1G>A,p.7744Donor |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152370093C>T,c.23346+1G>A,p.7782Donor |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152369326A>G,c.23372T>C,p.M7791T |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152364589G>A,c.23486C>T,p.S7829L |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152363484G>A,c.23600C>T,p.T7867I |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152363454C>T,c.23630G>A,p.R7877H |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152362730T>G,c.23704A>C,p.K7902Q |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152362011G>A,c.23828C>T,p.T7943M |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152359922G>A,c.23881C>T,p.P7961S |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152359900A>G,c.23903T>C,p.I7968T |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152359308G>A,c.24032C>T,p.S8011L |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152355886C>T,c.24145G>A,p.V8049I |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152355885A>G,c.24146T>C,p.V8049A |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152352843C>G,c.24538G>C,p.A8180P |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152350311C>T,c.24755G>A,p.R8252H |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152348631T>C,c.25143A>G,p.Q8381Q |