| 基因名 | 突变 |
|---|---|
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238253286G>A,c.7375C>T,p.R2459W |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238249631G>A,c.7928C>T,p.A2643V |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238249606C>T,c.7953G>A,p.M2651I |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238249562A>C,c.7997T>G,p.V2666G |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238249391A>G,c.8168T>C,p.I2723T |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238249370G>T,c.8189C>A,p.A2730D |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238249358C>T,c.8201G>A,p.R2734Q |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238249323C>T,c.8236G>A,p.E2746K |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238249101C>T,c.8458G>A,p.V2820I |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238247734C>G,c.8491G>C,p.D2831H |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238245116G>A,c.8627C>T,p.P2876L |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238245107G>A,c.8636C>T,p.T2879M |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238245008G>A,c.8735C>T,p.P2912L |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238245000C>T,c.8743G>A,p.A2915T |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238244963A>G,c.8780T>C,p.M2927T |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238244924G>A,c.8819C>T,p.T2940M |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238244864_238244866del,c.8877_8879del,p.2959_2960del |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238244781T>C,c.8962A>G,p.M2988V |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238243481T>C,c.9017A>G,p.K3006R |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238243464C>G,c.9034G>C,p.A3012P |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238243368C>T,c.9130G>A,p.V3044I |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238243350C>T,c.9148G>A,p.A3050T |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238243292G>A,c.9206C>T,p.T3069I |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238243289T>C,c.9209A>G,p.Y3070C |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238234352G>A,c.9344C>T,p.P3115L |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47546080G>A,c.2351G>A,p.R784H |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47545812G>A,c.2083G>A,p.E695K |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47545768G>A,c.2039G>A,p.R680H |