| 基因名 | 突变 |
|---|---|
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47545507G>A,c.1945G>A,p.A649T |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47545377A>C,c.1817-2A>C,p.606Acceptor |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47545201G>A,c.1792G>A,p.V598M |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47544833C>T,c.1769C>T,p.T590M |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47544826G>A,c.1762G>A,p.G588S |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47544599G>A,c.1706G>A,p.R569Q |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47544563A>C,c.1672-2A>C,p.558Acceptor |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47542801G>A,c.1621G>A,p.D541N |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47542052C>T,c.1552C>T,p.P518S |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47541500C>A,c.1489C>A,p.P497T |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47538960G>A,c.1196G>A,p.S399N |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47537831G>A,c.1097G>A,p.R366Q |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47536717G>A,c.988G>A,p.D330N |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47536570A>T,c.933A>T,p.E311D |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47533977G>A,c.791G>A,p.R264H |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47532456G>A,c.679G>A,p.D227N |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47532321G>A,c.544G>A,p.E182K |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47532288G>A,c.511G>A,p.G171R |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47532093G>A,c.316G>A,p.E106K |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47532049C>T,c.272C>T,p.A91V |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47531997G>A,c.220G>A,p.V74M |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47531965C>T,c.188C>T,p.T63M |
| COL6A2(NM_058175,collagen, type VI, alpha 2,828aa) | g.21:47531913C>T,c.136C>T,p.H46Y |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47423766C>T,c.2926C>T,p.R976C |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47423706G>A,c.2866G>A,p.E956K |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47423703A>G,c.2863A>G,p.I955V |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47423692C>T,c.2852C>T,p.T951M |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47423637G>A,c.2797G>A,p.G933S |