| 基因名 | 突变 |
|---|---|
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238303473C>A,c.466G>T,p.D156Y |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238303451G>A,c.488C>T,p.A163V |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238296675C>T,c.862G>A,p.D288N |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238296579C>T,c.958G>A,p.A320T |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238296513C>T,c.1024G>A,p.V342M |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238296306G>C,c.1231C>G,p.L411V |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238296273C>T,c.1264G>A,p.V422M |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238289984C>G,c.1471G>C,p.D491H |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238289980G>C,c.1475C>G,p.T492S |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238289977A>G,c.1478T>C,p.V493A |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238289893G>A,c.1562C>T,p.S521L |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238289767T>C,c.1688A>G,p.D563G |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238289669C>A,c.1786G>T,p.A596S |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238289629C>T,c.1826G>A,p.R609Q |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238287800C>T,c.1976G>A,p.R659H |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238287791A>G,c.1985T>C,p.V662A |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238287746C>T,c.2030G>A,p.R677H |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238287471C>T,c.2305G>A,p.A769T |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238287434G>A,c.2342C>T,p.A781V |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238287357C>T,c.2419G>A,p.A807T |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238287288C>A,c.2488G>T,p.A830S |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238285756G>A,c.2729C>T,p.T910M |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238285729G>A,c.2756C>T,p.A919V |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238285691C>A,c.2794G>T,p.A932S |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238283646C>T,c.3088G>A,p.V1030M |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238283616C>T,c.3118G>A,p.V1040I |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238283529C>T,c.3205G>A,p.V1069M |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238283472T>G,c.3262A>C,p.K1088Q |