| Genename | Variants |
|---|---|
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130190531T>C,c.7580T>C,p.L2527P |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130189738G>A,c.7501G>A,p.E2501K |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130188161A>C,c.7313A>C,p.Y2438S |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130188121G>A,c.7273G>A,p.V2425I |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130187772G>T,c.6924G>T,p.K2308N |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130187662G>T,c.6814G>T,p.E2272X |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130174433A>G,c.6713A>G,p.Q2238R |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130174391C>T,c.6671C>T,p.T2224M |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130174334G>A,c.6614G>A,p.G2205D |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130162395A>G,c.6563A>G,p.Q2188R |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130159540C>T,c.6358C>T,p.R2120C |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130159510G>A,c.6328G>A,p.V2110I |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130159330C>T,c.6148C>T,p.Q2050X |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130159190A>C,c.6008A>C,p.D2003A |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130159121A>G,c.5939A>G,p.K1980R |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130159114_130159122del,c.5932_5940del,p.1978_1980del |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130159071T>G,c.5889T>G,p.D1963E |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130158438C>T,c.5806C>T,p.R1936W |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130150614C>T,c.5554C>T,p.R1852C |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130150483C>T,c.5423C>T,p.S1808L |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130150310A>C,c.5250A>C,p.E1750D |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130145242A>G,c.5231A>G,p.H1744R |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130145236G>A,c.5225G>A,p.R1742Q |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130139996G>T,c.4951-1G>T,p.1651Acceptor |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130135644C>A,c.4868C>A,p.P1623H |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130134492T>C,c.4765T>C,p.S1589P |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130129322G>C,c.4616G>C,p.S1539T |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130125116G>C,c.4430G>C,p.C1477S |