| 基因名 | 突变 |
|---|---|
| DMD(NM_004010,dystrophin,3562aa) | g.X:32235151C>T,c.5951G>A,p.R1984Q |
| DMD(NM_004010,dystrophin,3562aa) | g.X:32235149G>A,c.5953C>T,p.R1985C |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31986607G>A,c.6094C>T,p.R2032W |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31947838G>A,c.6418C>T,p.R2140C |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31893307T>G,c.6726+1A>C,p.2242Donor |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31854905G>A,c.6761C>T,p.P2254L |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31854884G>T,c.6782C>A,p.S2261Y |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31515035T>C,c.8048A>G,p.Q2683R |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31497186A>G,c.8213T>C,p.V2738A |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31496431T>A,c.8360A>T,p.E2787V |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31496426T>C,c.8365A>G,p.N2789D |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31496398T>C,c.8393A>G,p.H2798R |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31496350C>T,c.8441G>A,p.R2814Q |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31496308C>T,c.8483G>A,p.R2828H |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31366745C>T,c.8722G>A,p.V2908I |
| DMD(NM_004010,dystrophin,3562aa) | g.X:31165612C>T,c.10208G>A,p.R3403H |
| DMC1(NM_007068,DNA meiotic recombinase 1,340aa) | g.22:38934606T>C,c.598A>G,p.M200V |
| DMC1(NM_007068,DNA meiotic recombinase 1,340aa) | g.22:38917703A>G,c.863T>C,p.I288T |
| DMBX1(NM_147192,diencephalon/mesencephalon homeobox 1,382aa) | g.1:46977907C>T,c.890C>T,p.A297V |
| DMBX1(NM_147192,diencephalon/mesencephalon homeobox 1,382aa) | g.1:46977886G>C,c.869G>C,p.G290A |
| DMBX1(NM_147192,diencephalon/mesencephalon homeobox 1,382aa) | g.1:46976871G>C,c.613G>C,p.A205P |
| DMBX1(NM_147192,diencephalon/mesencephalon homeobox 1,382aa) | g.1:46976853C>T,c.595C>T,p.R199C |
| DMBX1(NM_147192,diencephalon/mesencephalon homeobox 1,382aa) | g.1:46976735T>A,c.477T>A,p.D159E |
| DMBX1(NM_147192,diencephalon/mesencephalon homeobox 1,382aa) | g.1:46976650G>A,c.392G>A,p.R131H |
| DMBX1(NM_147192,diencephalon/mesencephalon homeobox 1,382aa) | g.1:46976131C>T,c.155-2C>T,p.52Acceptor |
| DMBT1(NM_007329,deleted in malignant brain tumors 1,2413aa) | g.10:124402909C>T,c.7237C>T,p.R2413W |
| DMBT1(NM_007329,deleted in malignant brain tumors 1,2413aa) | g.10:124402790G>A,c.7118G>A,p.R2373H |
| DMBT1(NM_007329,deleted in malignant brain tumors 1,2413aa) | g.10:124399850G>A,c.6850G>A,p.V2284I |