| 基因名 | 突变 |
|---|---|
| CHRND(NM_000751,cholinergic receptor, nicotinic, delta (muscle),517aa) | g.2:233396134G>A,c.893G>A,p.R298H |
| CHRND(NM_000751,cholinergic receptor, nicotinic, delta (muscle),517aa) | g.2:233396133C>T,c.892C>T,p.R298C |
| CHRND(NM_000751,cholinergic receptor, nicotinic, delta (muscle),517aa) | g.2:233396131A>G,c.890A>G,p.K297R |
| CHRND(NM_000751,cholinergic receptor, nicotinic, delta (muscle),517aa) | g.2:233396103C>G,c.862C>G,p.Q288E |
| CHRND(NM_000751,cholinergic receptor, nicotinic, delta (muscle),517aa) | g.2:233394727G>A,c.698G>A,p.R233H |
| CHRND(NM_000751,cholinergic receptor, nicotinic, delta (muscle),517aa) | g.2:233394679C>T,c.650C>T,p.P217L |
| CHRND(NM_000751,cholinergic receptor, nicotinic, delta (muscle),517aa) | g.2:233393299C>T,c.442C>T,p.R148C |
| CHRND(NM_000751,cholinergic receptor, nicotinic, delta (muscle),517aa) | g.2:233391303C>G,c.117C>G,p.N39K |
| CHRND(NM_000751,cholinergic receptor, nicotinic, delta (muscle),517aa) | g.2:233391265C>T,c.79C>T,p.R27W |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78927873T>C,c.112A>G,p.T38A |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78927783C>T,c.202G>A,p.V68M |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78923505G>A,c.272C>T,p.T91I |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78922240C>T,c.407G>A,p.R136Q |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78922229T>C,c.418A>G,p.S140G |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78921965T>C,c.682A>G,p.I228V |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78921716C>T,c.931G>A,p.V311I |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78921694T>C,c.953A>G,p.N318S |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78921602G>A,c.1045C>T,p.R349C |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78921449G>A,c.1198C>T,p.P400S |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78921353T>C,c.1294A>G,p.S432G |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78921343G>A,c.1304C>T,p.A435V |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78921323C>T,c.1324G>A,p.D442N |
| CHRNB4(NM_000750,cholinergic receptor, nicotinic, beta 4 (neuronal),498aa) | g.15:78917573T>C,c.1399A>G,p.M467V |
| CHRNB3(NM_000749,cholinergic receptor, nicotinic, beta 3 (neuronal),458aa) | g.8:42587552G>A,c.1102G>A,p.V368M |
| CHRNB3(NM_000749,cholinergic receptor, nicotinic, beta 3 (neuronal),458aa) | g.8:42586923C>G,c.473C>G,p.T158R |
| CHRNB3(NM_000749,cholinergic receptor, nicotinic, beta 3 (neuronal),458aa) | g.8:42563880A>G,c.73A>G,p.I25V |
| CHRNB3(NM_000749,cholinergic receptor, nicotinic, beta 3 (neuronal),458aa) | g.8:42552742G>A,c.52+1G>A,p.18Donor |
| CHRNB2(NM_000748,cholinergic receptor, nicotinic, beta 2 (neuronal),502aa) | g.1:154544490G>C,c.1191G>C,p.Q397H |