| 基因名 | 突变 |
|---|---|
| NEB(NM_001271208,nebulin,8560aa) | g.2:152534545T>C,c.3412A>G,p.N1138D |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152534514G>A,c.3443C>T,p.A1148V |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152534260T>C,c.3593A>G,p.N1198S |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152534230A>G,c.3623T>C,p.I1208T |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152531854G>T,c.3826C>A,p.P1276T |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152531077A>G,c.3901T>C,p.Y1301H |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152530992T>G,c.3986A>C,p.D1329A |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152529122T>C,c.4060A>G,p.K1354E |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152527636C>G,c.4407G>C,p.E1469D |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152527608C>T,c.4435G>A,p.V1479I |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152527580A>G,c.4463T>C,p.M1488T |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152527572C>T,c.4471G>A,p.V1491M |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152525545C>T,c.4607G>A,p.S1536N |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152524388T>C,c.4649A>G,p.K1550R |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152521983A>G,c.5102T>C,p.V1701A |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152520270A>C,c.5555T>G,p.M1852R |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152520260G>T,c.5565C>A,p.D1855E |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152520258C>T,c.5567G>A,p.R1856Q |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152520145T>C,c.5680A>G,p.R1894G |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152515683G>A,c.5971C>T,p.H1991Y |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152515634A>G,c.6020T>C,p.M2007T |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152515629C>G,c.6025G>C,p.D2009H |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152515585C>T,c.6069G>A,p.M2023I |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152514514T>C,c.6166A>G,p.R2056G |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152511874A>C,c.6717T>G,p.I2239M |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152507347C>T,c.6968G>A,p.R2323Q |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152507189C>G,c.7126G>C,p.V2376L |
| NEB(NM_001271208,nebulin,8560aa) | g.2:152506811C>T,c.7310G>A,p.R2437Q |