| 基因名 | 突变 |
|---|---|
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130293232T>C,c.3410T>C,p.I1137T |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130290120G>A,c.2860G>A,p.V954M |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130290069C>T,c.2809C>T,p.R937W |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130290055C>T,c.2795C>T,p.T932M |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130290007T>C,c.2747T>C,p.I916T |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130289976C>T,c.2716C>T,p.R906C |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130289725A>G,c.2465A>G,p.Y822C |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130287443G>T,c.2396G>T,p.R799L |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130286067A>G,c.1804A>G,p.I602V |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130285959C>T,c.1696C>T,p.R566X |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130285929C>T,c.1666C>T,p.P556S |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130285899A>G,c.1636A>G,p.N546D |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130285834G>A,c.1571G>A,p.S524N |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130285812G>A,c.1549G>A,p.A517T |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130285686G>A,c.1423G>A,p.V475I |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130285645A>C,c.1382A>C,p.E461A |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130284284G>A,c.1108G>A,p.A370T |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130284201G>A,c.1025G>A,p.R342Q |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130284156G>A,c.980G>A,p.R327Q |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130282510T>C,c.661+2T>C,p.221Donor |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130282503T>C,c.656T>C,p.V219A |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130282407G>A,c.560G>A,p.R187Q |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130282383C>A,c.536C>A,p.T179K |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130282110G>A,c.263G>A,p.S88N |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130282013A>T,c.166A>T,p.S56C |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130190721del,c.7770del,p.2590fs |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130190716G>A,c.7765G>A,p.A2589T |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130190630G>A,c.7679G>A,p.S2560N |