| 基因名 | 突变 |
|---|---|
| DTD1(NM_080820,D-tyrosyl-tRNA deacylase 1,209aa) | g.20:18576801G>A,c.286G>A,p.A96T |
| DTD1(NM_080820,D-tyrosyl-tRNA deacylase 1,209aa) | g.20:18568744C>T,c.28C>T,p.R10W |
| DSTYK(NM_015375,dual serine/threonine and tyrosine protein kinase,929aa) | g.1:205180474G>A,c.190C>T,p.L64F |
| DSTYK(NM_015375,dual serine/threonine and tyrosine protein kinase,929aa) | g.1:205138952G>T,c.663C>A,p.D221E |
| DSTYK(NM_015375,dual serine/threonine and tyrosine protein kinase,929aa) | g.1:205138321G>C,c.1294C>G,p.L432V |
| DSTYK(NM_015375,dual serine/threonine and tyrosine protein kinase,929aa) | g.1:205131207C>T,c.1775G>A,p.R592Q |
| DSTYK(NM_015375,dual serine/threonine and tyrosine protein kinase,929aa) | g.1:205130413A>G,c.1921T>C,p.C641R |
| DSTYK(NM_015375,dual serine/threonine and tyrosine protein kinase,929aa) | g.1:205128698G>A,c.2215C>T,p.R739W |
| DSTYK(NM_015375,dual serine/threonine and tyrosine protein kinase,929aa) | g.1:205126408del,c.2345del,p.782fs |
| DSTYK(NM_015375,dual serine/threonine and tyrosine protein kinase,929aa) | g.1:205116705C>T,c.2771G>A,p.G924E |
| DST(NM_001144769,dystonin,5675aa) | g.6:56819326G>C,c.60C>G,p.F20L |
| DST(NM_001144769,dystonin,5675aa) | g.6:56819282A>C,c.104T>G,p.F35C |
| DST(NM_001144769,dystonin,5675aa) | g.6:56765341C>T,c.295G>A,p.V99M |
| DST(NM_001144769,dystonin,5675aa) | g.6:56569113T>C,c.742A>G,p.I248V |
| DST(NM_001144769,dystonin,5675aa) | g.6:56566691G>A,c.850C>T,p.R284C |
| DST(NM_001144769,dystonin,5675aa) | g.6:56505336G>A,c.1996C>T,p.R666C |
| DST(NM_001144769,dystonin,5675aa) | g.6:56505081G>C,c.2251C>G,p.P751A |
| DST(NM_001144769,dystonin,5675aa) | g.6:56504561G>A,c.2531C>T,p.T844I |
| DST(NM_001144769,dystonin,5675aa) | g.6:56504355G>A,c.2653C>T,p.R885C |
| DST(NM_001144769,dystonin,5675aa) | g.6:56500478A>G,c.2996T>C,p.L999S |
| DST(NM_001144769,dystonin,5675aa) | g.6:56500389T>C,c.3085A>G,p.M1029V |
| DST(NM_001144769,dystonin,5675aa) | g.6:56498994C>T,c.3458G>A,p.S1153N |
| DST(NM_001144769,dystonin,5675aa) | g.6:56496031T>C,c.4021A>G,p.M1341V |
| DST(NM_001144769,dystonin,5675aa) | g.6:56494193C>T,c.4231G>A,p.E1411K |
| DST(NM_001144769,dystonin,5675aa) | g.6:56479222C>A,c.4891G>T,p.V1631L |
| DST(NM_001144769,dystonin,5675aa) | g.6:56479215T>A,c.4898A>T,p.N1633I |
| DST(NM_001144769,dystonin,5675aa) | g.6:56476324del,c.5030del,p.1677fs |
| DST(NM_001144769,dystonin,5675aa) | g.6:56475265T>G,c.5144A>C,p.Q1715P |