| 基因名 | 突变 |
|---|---|
| DMPK(NM_001081563,dystrophia myotonica-protein kinase,639aa) | g.19:46274828G>A,c.1628C>T,p.T543I |
| DMPK(NM_001081563,dystrophia myotonica-protein kinase,639aa) | g.19:46274624G>A,c.1661C>T,p.T554M |
| DMPK(NM_001081563,dystrophia myotonica-protein kinase,639aa) | g.19:46273846A>T,c.1820T>A,p.V607D |
| DMPK(NM_001081563,dystrophia myotonica-protein kinase,639aa) | g.19:46273768G>A,c.1898C>T,p.P633L |
| DMP1(NM_004407,dentin matrix acidic phosphoprotein 1,513aa) | g.4:88584318A>G,c.1388A>G,p.K463R |
| DMP1(NM_004407,dentin matrix acidic phosphoprotein 1,513aa) | g.4:88583970C>T,c.1040C>T,p.S347L |
| DMP1(NM_004407,dentin matrix acidic phosphoprotein 1,513aa) | g.4:88583960G>A,c.1030G>A,p.A344T |
| DMP1(NM_004407,dentin matrix acidic phosphoprotein 1,513aa) | g.4:88583774C>A,c.844C>A,p.L282I |
| DMP1(NM_004407,dentin matrix acidic phosphoprotein 1,513aa) | g.4:88583745G>A,c.815G>A,p.R272H |
| DMP1(NM_004407,dentin matrix acidic phosphoprotein 1,513aa) | g.4:88583744C>T,c.814C>T,p.R272C |
| DMP1(NM_004407,dentin matrix acidic phosphoprotein 1,513aa) | g.4:88583639A>G,c.709A>G,p.M237V |
| DMP1(NM_004407,dentin matrix acidic phosphoprotein 1,513aa) | g.4:88583405C>A,c.475C>A,p.Q159K |
| DMP1(NM_004407,dentin matrix acidic phosphoprotein 1,513aa) | g.4:88583354G>T,c.424G>T,p.D142Y |
| DMP1(NM_004407,dentin matrix acidic phosphoprotein 1,513aa) | g.4:88583135A>T,c.205A>T,p.S69C |
| DMP1(NM_004407,dentin matrix acidic phosphoprotein 1,513aa) | g.4:88580393A>C,c.124A>C,p.T42P |
| DMP1(NM_004407,dentin matrix acidic phosphoprotein 1,513aa) | g.4:88578208T>C,c.79T>C,p.S27P |
| DMKN(NM_033317,dermokine,476aa) | g.19:36004311G>T,c.67C>A,p.P23T |
| DMKN(NM_033317,dermokine,476aa) | g.19:36004171C>A,c.207G>T,p.E69D |
| DMKN(NM_033317,dermokine,476aa) | g.19:36004106A>G,c.272T>C,p.V91A |
| DMKN(NM_033317,dermokine,476aa) | g.19:36004080C>T,c.298G>A,p.G100R |
| DMKN(NM_033317,dermokine,476aa) | g.19:36003962T>C,c.416A>G,p.N139S |
| DMKN(NM_033317,dermokine,476aa) | g.19:36003530C>T,c.589G>A,p.G197S |
| DMKN(NM_033317,dermokine,476aa) | g.19:36003496G>T,c.623C>A,p.T208N |
| DMKN(NM_033317,dermokine,476aa) | g.19:36002488C>A,c.743G>T,p.S248I |
| DMKN(NM_033317,dermokine,476aa) | g.19:36002419_36002421del,c.810_812del,p.270_271del |
| DMKN(NM_033317,dermokine,476aa) | g.19:36002411T>C,c.820A>G,p.S274G |
| DMKN(NM_033317,dermokine,476aa) | g.19:36002410_36002412del,c.819_821del,p.273_274del |
| DMKN(NM_033317,dermokine,476aa) | g.19:36002405T>C,c.826A>G,p.S276G |