| 基因名 | 突变 |
|---|---|
| DST(NM_001144769,dystonin,5675aa) | g.6:56463410T>C,c.5435A>G,p.Q1812R |
| DST(NM_001144769,dystonin,5675aa) | g.6:56462690T>A,c.5686A>T,p.I1896F |
| DST(NM_001144769,dystonin,5675aa) | g.6:56462642T>C,c.5734A>G,p.I1912V |
| DST(NM_001144769,dystonin,5675aa) | g.6:56457044T>C,c.6482A>G,p.K2161R |
| DST(NM_001144769,dystonin,5675aa) | g.6:56437837C>T,c.6905G>A,p.R2302H |
| DST(NM_001144769,dystonin,5675aa) | g.6:56437021A>G,c.7241T>C,p.V2414A |
| DST(NM_001144769,dystonin,5675aa) | g.6:56434712G>T,c.7463C>A,p.P2488H |
| DST(NM_001144769,dystonin,5675aa) | g.6:56426322C>A,c.7737G>T,p.M2579I |
| DST(NM_001144769,dystonin,5675aa) | g.6:56426282G>A,c.7777C>T,p.L2593F |
| DST(NM_001144769,dystonin,5675aa) | g.6:56426246A>G,c.7813T>C,p.S2605P |
| DST(NM_001144769,dystonin,5675aa) | g.6:56425220G>A,c.7955C>T,p.S2652L |
| DST(NM_001144769,dystonin,5675aa) | g.6:56422262T>C,c.8138A>G,p.E2713G |
| DST(NM_001144769,dystonin,5675aa) | g.6:56422242T>C,c.8158A>G,p.T2720A |
| DST(NM_001144769,dystonin,5675aa) | g.6:56420548G>T,c.8374C>A,p.P2792T |
| DST(NM_001144769,dystonin,5675aa) | g.6:56420538C>T,c.8384G>A,p.R2795H |
| DST(NM_001144769,dystonin,5675aa) | g.6:56420158C>T,c.8764G>A,p.V2922I |
| DST(NM_001144769,dystonin,5675aa) | g.6:56418006C>T,c.9227G>A,p.C3076Y |
| DST(NM_001144769,dystonin,5675aa) | g.6:56417802C>T,c.9431G>A,p.S3144N |
| DST(NM_001144769,dystonin,5675aa) | g.6:56417545T>C,c.9688A>G,p.T3230A |
| DST(NM_001144769,dystonin,5675aa) | g.6:56417282C>T,c.9951G>A,p.M3317I |
| DST(NM_001144769,dystonin,5675aa) | g.6:56417220G>A,c.10013C>T,p.P3338L |
| DST(NM_001144769,dystonin,5675aa) | g.6:56417095T>A,c.10138A>T,p.S3380C |
| DST(NM_001144769,dystonin,5675aa) | g.6:56394455C>T,c.11029G>A,p.D3677N |
| DST(NM_001144769,dystonin,5675aa) | g.6:56392433T>C,c.11423A>G,p.Q3808R |
| DST(NM_001144769,dystonin,5675aa) | g.6:56380391G>A,c.12076C>T,p.R4026W |
| DST(NM_001144769,dystonin,5675aa) | g.6:56374626C>T,c.12469G>A,p.V4157M |
| DST(NM_001144769,dystonin,5675aa) | g.6:56373536C>T,c.12673G>A,p.D4225N |
| DST(NM_001144769,dystonin,5675aa) | g.6:56362247C>T,c.13796G>A,p.R4599H |