| 基因名 | 突变 |
|---|---|
| NEB(NM_001271208,nebulin,8560aa) | g.2:152347018G>A,c.25270C>T,p.R8424W |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152346979T>C,c.25309A>G,p.I8437V |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152346537G>A,c.25457C>T,p.A8486V |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152346522G>A,c.25472C>T,p.T8491M |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152342437C>T,c.25520G>A,p.R8507H |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152342288C>T,c.25669G>A,p.V8557I |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21178852C>G,c.180G>C,p.K60N |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21177128G>C,c.267C>G,p.Y89X |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21177028C>T,c.367G>A,p.E123K |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21169770G>C,c.433C>G,p.P145A |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21158690C>G,c.561G>C,p.Q187H |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21157673C>T,c.604G>A,p.G202R |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21157621G>T,c.656C>A,p.A219D |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21148700T>C,c.740A>G,p.N247S |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21141488C>T,c.994G>A,p.V332I |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21139389T>C,c.1051A>G,p.M351V |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21139332G>T,c.1108C>A,p.Q370K |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21134282C>G,c.1132G>C,p.D378H |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21129704G>C,c.1302C>G,p.I434M |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21112229C>G,c.1870G>C,p.V624L |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21112137A>T,c.1962T>A,p.N654K |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21108430G>T,c.1978C>A,p.Q660K |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21106620A>G,c.2057T>C,p.V686A |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21106597G>A,c.2080C>T,p.R694W |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21104613T>C,c.2182A>G,p.T728A |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21104555G>A,c.2240C>T,p.S747L |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21102870T>C,c.2344A>G,p.M782V |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21101818C>T,c.2398G>A,p.V800I |