| 基因名 | 突变 |
|---|---|
| DMRTA2(NM_032110,DMRT-like family A2,542aa) | g.1:50884884C>G,c.1082G>C,p.G361A |
| DMRTA2(NM_032110,DMRT-like family A2,542aa) | g.1:50884749A>T,c.1217T>A,p.L406Q |
| DMRTA2(NM_032110,DMRT-like family A2,542aa) | g.1:50884536C>T,c.1430G>A,p.S477N |
| DMRTA1(NM_022160,DMRT-like family A1,504aa) | g.9:22451906C>T,c.1511C>T,p.P504L |
| DMRTA1(NM_022160,DMRT-like family A1,504aa) | g.9:22451185G>A,c.790G>A,p.G264R |
| DMRTA1(NM_022160,DMRT-like family A1,504aa) | g.9:22447428G>T,c.364G>T,p.A122S |
| DMRTA1(NM_022160,DMRT-like family A1,504aa) | g.9:22447094C>G,c.30C>G,p.D10E |
| DMRT3(NM_021240,doublesex and mab-3 related transcription factor 3,472aa) | g.9:990973T>C,c.1387T>C,p.S463P |
| DMRT3(NM_021240,doublesex and mab-3 related transcription factor 3,472aa) | g.9:990803A>G,c.1217A>G,p.Q406R |
| DMRT3(NM_021240,doublesex and mab-3 related transcription factor 3,472aa) | g.9:990653G>T,c.1067G>T,p.G356V |
| DMRT3(NM_021240,doublesex and mab-3 related transcription factor 3,472aa) | g.9:990638C>T,c.1052C>T,p.P351L |
| DMRT3(NM_021240,doublesex and mab-3 related transcription factor 3,472aa) | g.9:990540G>C,c.954G>C,p.L318F |
| DMRT3(NM_021240,doublesex and mab-3 related transcription factor 3,472aa) | g.9:990401A>C,c.815A>C,p.K272T |
| DMRT3(NM_021240,doublesex and mab-3 related transcription factor 3,472aa) | g.9:990235C>T,c.649C>T,p.R217C |
| DMRT3(NM_021240,doublesex and mab-3 related transcription factor 3,472aa) | g.9:990076G>A,c.490G>A,p.A164T |
| DMRT3(NM_021240,doublesex and mab-3 related transcription factor 3,472aa) | g.9:977312T>C,c.311T>C,p.V104A |
| DMRT2(NM_006557,doublesex and mab-3 related transcription factor 2,226aa) | g.9:1051930C>G,c.317C>G,p.T106S |
| DMRT1(NM_021951,doublesex and mab-3 related transcription factor 1,373aa) | g.9:968054A>G,c.1037A>G,p.K346R |
| DMRT1(NM_021951,doublesex and mab-3 related transcription factor 1,373aa) | g.9:916781C>T,c.841C>T,p.R281C |
| DMRT1(NM_021951,doublesex and mab-3 related transcription factor 1,373aa) | g.9:916763A>G,c.823A>G,p.M275V |
| DMRT1(NM_021951,doublesex and mab-3 related transcription factor 1,373aa) | g.9:894058C>A,c.685C>A,p.P229T |
| DMRT1(NM_021951,doublesex and mab-3 related transcription factor 1,373aa) | g.9:894044A>G,c.671A>G,p.N224S |
| DMRT1(NM_021951,doublesex and mab-3 related transcription factor 1,373aa) | g.9:847069A>G,c.464A>G,p.N155S |
| DMRT1(NM_021951,doublesex and mab-3 related transcription factor 1,373aa) | g.9:841971T>A,c.133T>A,p.S45T |
| DMPK(NM_001081563,dystrophia myotonica-protein kinase,639aa) | g.19:46281817G>A,c.545C>T,p.A182V |
| DMPK(NM_001081563,dystrophia myotonica-protein kinase,639aa) | g.19:46280721G>C,c.1040C>G,p.P347R |
| DMPK(NM_001081563,dystrophia myotonica-protein kinase,639aa) | g.19:46278261G>A,c.1208C>T,p.P403L |
| DMPK(NM_001081563,dystrophia myotonica-protein kinase,639aa) | g.19:46275976G>C,c.1297C>G,p.L433V |