| 基因名 | 突变 |
|---|---|
| DCBLD2(NM_080927,discoidin, CUB and LCCL domain containing 2,775aa) | g.3:98530160C>T,c.1454G>A,p.R485H |
| DCBLD2(NM_080927,discoidin, CUB and LCCL domain containing 2,775aa) | g.3:98519494C>T,c.1787G>A,p.R596H |
| DCBLD2(NM_080927,discoidin, CUB and LCCL domain containing 2,775aa) | g.3:98518377C>T,c.2167G>A,p.D723N |
| DCBLD2(NM_080927,discoidin, CUB and LCCL domain containing 2,775aa) | g.3:98518223A>T,c.2321T>A,p.I774N |
| DCBLD1(NM_173674,discoidin, CUB and LCCL domain containing 1,539aa) | g.6:117866721A>T,c.1576A>T,p.M526L |
| DCBLD1(NM_173674,discoidin, CUB and LCCL domain containing 1,539aa) | g.6:117860508A>G,c.1067A>G,p.K356R |
| DCBLD1(NM_173674,discoidin, CUB and LCCL domain containing 1,539aa) | g.6:117859852A>G,c.830A>G,p.N277S |
| DCBLD1(NM_173674,discoidin, CUB and LCCL domain containing 1,539aa) | g.6:117853502G>A,c.665G>A,p.R222H |
| DCBLD1(NM_173674,discoidin, CUB and LCCL domain containing 1,539aa) | g.6:117853501C>T,c.664C>T,p.R222C |
| DCBLD1(NM_173674,discoidin, CUB and LCCL domain containing 1,539aa) | g.6:117825028A>G,c.211A>G,p.T71A |
| DCAKD(NM_024819,dephospho-CoA kinase domain containing,231aa) | g.17:43112232_43112233del,c.21_22del,p.7fs |
| DCAKD(NM_024819,dephospho-CoA kinase domain containing,231aa) | g.17:43112142C>T,c.112G>A,p.V38I |
| DCAKD(NM_024819,dephospho-CoA kinase domain containing,231aa) | g.17:43111723C>T,c.148G>A,p.V50I |
| DCAKD(NM_024819,dephospho-CoA kinase domain containing,231aa) | g.17:43111611G>A,c.260C>T,p.T87I |
| DCAKD(NM_024819,dephospho-CoA kinase domain containing,231aa) | g.17:43111558G>A,c.313C>T,p.R105W |
| DCAKD(NM_024819,dephospho-CoA kinase domain containing,231aa) | g.17:43107542G>A,c.322C>T,p.R108C |
| DCAKD(NM_024819,dephospho-CoA kinase domain containing,231aa) | g.17:43101857C>T,c.640G>A,p.A214T |
| DCAKD(NM_024819,dephospho-CoA kinase domain containing,231aa) | g.17:43101836A>G,c.661T>C,p.Y221H |
| DCAF8(NM_015726,DDB1 and CUL4 associated factor 8,597aa) | g.1:160209874_160209885del,c.325_336del,p.109_112del |
| DCAF8(NM_015726,DDB1 and CUL4 associated factor 8,597aa) | g.1:160209867G>A,c.343C>T,p.R115W |
| DCAF8(NM_015726,DDB1 and CUL4 associated factor 8,597aa) | g.1:160209861G>A,c.349C>T,p.R117C |
| DCAF8(NM_015726,DDB1 and CUL4 associated factor 8,597aa) | g.1:160192473T>C,c.1408A>G,p.I470V |
| DCAF8L2(NM_001136533,DDB1 and CUL4 associated factor 8-like 2,631aa) | g.X:27766045A>G,c.1033A>G,p.T345A |
| DCAF8L2(NM_001136533,DDB1 and CUL4 associated factor 8-like 2,631aa) | g.X:27765400_27765402del,c.388_390del,p.130del |
| DCAF8L2(NM_001136533,DDB1 and CUL4 associated factor 8-like 2,631aa) | g.X:27765205G>T,c.193G>T,p.D65Y |
| DCAF8L2(NM_001136533,DDB1 and CUL4 associated factor 8-like 2,631aa) | g.X:27765100G>A,c.88G>A,p.V30M |
| DCAF8L2(NM_001136533,DDB1 and CUL4 associated factor 8-like 2,631aa) | g.X:27765056G>C,c.44G>C,p.G15A |
| DCAF8L1(NM_001017930,DDB1 and CUL4 associated factor 8-like 1,600aa) | g.X:27999373A>T,c.79T>A,p.S27T |