| Genename | Variants |
|---|---|
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130124469G>A,c.4319G>A,p.G1440E |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130122493A>G,c.4268A>G,p.E1423G |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130120633T>G,c.4162T>G,p.C1388G |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130116696A>C,c.3838A>C,p.T1280P |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130116684G>A,c.3826G>A,p.V1276I |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130116627C>T,c.3769C>T,p.P1257S |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130116437G>A,c.3579G>A,p.M1193I |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130114082C>G,c.3342C>G,p.I1114M |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130114032C>T,c.3292C>T,p.H1098Y |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130110550A>G,c.2945A>G,p.D982G |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130110478A>G,c.2873A>G,p.Q958R |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130107975A>G,c.2414A>G,p.H805R |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130107827G>A,c.2266G>A,p.V756M |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130107482A>C,c.1921A>C,p.N641H |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130104183G>A,c.1837G>A,p.V613I |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130104153G>A,c.1807G>A,p.D603N |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130104088C>T,c.1742C>T,p.A581V |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130103709G>A,c.1363G>A,p.E455K |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130098704T>G,c.1111T>G,p.L371V |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130098653G>T,c.1060G>T,p.V354L |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130098639C>T,c.1046C>T,p.P349L |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130098623C>G,c.1030C>G,p.L344V |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130098335G>A,c.742G>A,p.G248R |
| COL6A5(NM_001278298,collagen, type VI, alpha 5,2614aa) | g.3:130095179T>C,c.167T>C,p.M56T |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238305427C>T,c.34G>A,p.V12I |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238303685C>T,c.254G>A,p.G85E |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238303650G>A,c.289C>T,p.R97C |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238303647T>A,c.292A>T,p.T98S |