| 基因名 | 突变 |
|---|---|
| DCXR(NM_016286,dicarbonyl/L-xylulose reductase,244aa) | g.17:79994419C>G,c.448+1G>C,p.150Donor |
| DCXR(NM_016286,dicarbonyl/L-xylulose reductase,244aa) | g.17:79994319T>C,c.454A>G,p.T152A |
| DCXR(NM_016286,dicarbonyl/L-xylulose reductase,244aa) | g.17:79994090C>T,c.608G>A,p.R203Q |
| DCXR(NM_016286,dicarbonyl/L-xylulose reductase,244aa) | g.17:79993937C>T,c.634G>A,p.V212I |
| DCXR(NM_016286,dicarbonyl/L-xylulose reductase,244aa) | g.17:79993919C>T,c.652G>A,p.A218T |
| DCUN1D5(NM_032299,DCN1, defective in cullin neddylation 1, domain containing 5,237aa) | g.11:102960013T>A,c.121A>T,p.S41C |
| DCUN1D5(NM_032299,DCN1, defective in cullin neddylation 1, domain containing 5,237aa) | g.11:102933101C>T,c.701G>A,p.R234H |
| DCUN1D3(NM_173475,DCN1, defective in cullin neddylation 1, domain containing 3,304aa) | g.16:20873652G>A,c.209C>T,p.T70M |
| DCUN1D3(NM_173475,DCN1, defective in cullin neddylation 1, domain containing 3,304aa) | g.16:20873557G>A,c.304C>T,p.R102W |
| DCUN1D2(NM_001014283,DCN1, defective in cullin neddylation 1, domain containing 2,259aa) | g.13:114138200C>T,c.175G>A,p.A59T |
| DCUN1D2(NM_001014283,DCN1, defective in cullin neddylation 1, domain containing 2,259aa) | g.13:114134903T>C,c.376A>G,p.M126V |
| DCUN1D2(NM_001014283,DCN1, defective in cullin neddylation 1, domain containing 2,259aa) | g.13:114112412C>T,c.712G>A,p.V238I |
| DCUN1D2(NM_001014283,DCN1, defective in cullin neddylation 1, domain containing 2,259aa) | g.13:114112357C>T,c.767G>A,p.R256H |
| DCUN1D1(NM_020640,DCN1, defective in cullin neddylation 1, domain containing 1,259aa) | g.3:182681777G>A,c.281C>T,p.A94V |
| DCUN1D1(NM_020640,DCN1, defective in cullin neddylation 1, domain containing 1,259aa) | g.3:182665351T>C,c.590A>G,p.N197S |
| DCTPP1(NM_024096,dCTP pyrophosphatase 1,170aa) | g.16:30441285C>T,c.17G>A,p.G6E |
| DCTPP1(NM_024096,dCTP pyrophosphatase 1,170aa) | g.16:30435742G>A,c.325C>T,p.R109C |
| DCTPP1(NM_024096,dCTP pyrophosphatase 1,170aa) | g.16:30435736G>A,c.331C>T,p.R111C |
| DCTPP1(NM_024096,dCTP pyrophosphatase 1,170aa) | g.16:30435724G>C,c.343C>G,p.P115A |
| DCTPP1(NM_024096,dCTP pyrophosphatase 1,170aa) | g.16:30435651C>A,c.416G>T,p.R139L |
| DCTPP1(NM_024096,dCTP pyrophosphatase 1,170aa) | g.16:30435601C>G,c.466G>C,p.G156R |
| DCT(NM_001129889,dopachrome tautomerase,552aa) | g.13:95131232C>T,c.278G>A,p.R93Q |
| DCT(NM_001129889,dopachrome tautomerase,552aa) | g.13:95121301T>C,c.296-2A>G,p.99Acceptor |
| DCT(NM_001129889,dopachrome tautomerase,552aa) | g.13:95121048C>A,c.547G>T,p.D183Y |
| DCT(NM_001129889,dopachrome tautomerase,552aa) | g.13:95118870C>T,c.638G>A,p.G213E |
| DCT(NM_001129889,dopachrome tautomerase,552aa) | g.13:95118053G>A,c.697C>T,p.R233X |
| DCT(NM_001129889,dopachrome tautomerase,552aa) | g.13:95117993C>T,c.757G>A,p.E253K |
| DCT(NM_001129889,dopachrome tautomerase,552aa) | g.13:95114431G>T,c.876C>A,p.Y292X |