| 基因名 | 突变 |
|---|---|
| DCP1A(NM_018403,decapping mRNA 1A,582aa) | g.3:53324825C>A,c.1444+1G>T,p.482Donor |
| DCP1A(NM_018403,decapping mRNA 1A,582aa) | g.3:53324824A>G,c.1444+2T>C,p.482Donor |
| DCP1A(NM_018403,decapping mRNA 1A,582aa) | g.3:53324823_53324828del,c.1442_1444del,p.481_482del |
| DCP1A(NM_018403,decapping mRNA 1A,582aa) | g.3:53324820_53324825del,c.1444+2del,p.482Donordel |
| DCN(NM_001920,decorin,359aa) | g.12:91558396G>T,c.310C>A,p.L104M |
| DCN(NM_001920,decorin,359aa) | g.12:91552187T>C,c.424A>G,p.K142E |
| DCN(NM_001920,decorin,359aa) | g.12:91539998A>G,c.917T>C,p.V306A |
| DCN(NM_001920,decorin,359aa) | g.12:91539974del,c.941del,p.314fs |
| DCLRE1C(NM_001033858,DNA cross-link repair 1C,572aa) | g.10:14977503T>G,c.63A>C,p.Q21H |
| DCLRE1C(NM_001033858,DNA cross-link repair 1C,572aa) | g.10:14977469C>T,c.97G>A,p.G33R |
| DCLRE1C(NM_001033858,DNA cross-link repair 1C,572aa) | g.10:14976727G>C,c.152C>G,p.P51R |
| DCLRE1C(NM_001033858,DNA cross-link repair 1C,572aa) | g.10:14974905T>C,c.368A>G,p.H123R |
| DCLRE1C(NM_001033858,DNA cross-link repair 1C,572aa) | g.10:14951152C>T,c.974G>A,p.R325H |
| DCLRE1C(NM_001033858,DNA cross-link repair 1C,572aa) | g.10:14951146G>T,c.980C>A,p.T327K |
| DCLRE1C(NM_001033858,DNA cross-link repair 1C,572aa) | g.10:14951101T>A,c.1025A>T,p.E342V |
| DCLRE1C(NM_001033858,DNA cross-link repair 1C,572aa) | g.10:14951099_14951101del,c.1025_1027del,p.342_343del |
| DCLRE1C(NM_001033858,DNA cross-link repair 1C,572aa) | g.10:14950850G>C,c.1276C>G,p.Q426E |
| DCLRE1B(NM_022836,DNA cross-link repair 1B,532aa) | g.1:114454598G>A,c.1384G>A,p.D462N |
| DCLRE1B(NM_022836,DNA cross-link repair 1B,532aa) | g.1:114454400A>T,c.1186A>T,p.I396F |
| DCLRE1B(NM_022836,DNA cross-link repair 1B,532aa) | g.1:114454061C>T,c.847C>T,p.R283C |
| DCLRE1B(NM_022836,DNA cross-link repair 1B,532aa) | g.1:114450747C>T,c.472C>T,p.R158X |
| DCLRE1B(NM_022836,DNA cross-link repair 1B,532aa) | g.1:114448389C>T,c.181C>T,p.H61Y |
| DCLRE1B(NM_022836,DNA cross-link repair 1B,532aa) | g.1:114448342C>T,c.134C>T,p.A45V |
| DCLRE1A(NM_014881,DNA cross-link repair 1A,1040aa) | g.10:115612770T>C,c.172A>G,p.K58E |
| DCLRE1A(NM_014881,DNA cross-link repair 1A,1040aa) | g.10:115610259T>A,c.605A>T,p.K202M |
| DCLRE1A(NM_014881,DNA cross-link repair 1A,1040aa) | g.10:115610160A>T,c.704T>A,p.F235Y |
| DCLRE1A(NM_014881,DNA cross-link repair 1A,1040aa) | g.10:115610004G>A,c.860C>T,p.P287L |
| DCLRE1A(NM_014881,DNA cross-link repair 1A,1040aa) | g.10:115609915C>G,c.949G>C,p.D317H |