| 基因名 | 突变 |
|---|---|
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238283448G>A,c.3286C>T,p.R1096C |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238280909C>T,c.3751G>A,p.V1251I |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238280781A>C,c.3879T>G,p.D1293E |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238280654C>T,c.4006G>A,p.V1336I |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238280504C>T,c.4156G>A,p.E1386K |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238280491G>A,c.4169C>T,p.S1390L |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238280476C>T,c.4184G>A,p.R1395Q |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238280389C>T,c.4271G>A,p.R1424H |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238277674C>T,c.4432G>A,p.V1478M |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238277596G>A,c.4510C>T,p.R1504W |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238277511G>A,c.4595C>T,p.A1532V |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238277379C>T,c.4727G>A,p.R1576Q |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238277211C>T,c.4895G>A,p.R1632Q |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238275918C>T,c.4912G>A,p.A1638T |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238275569T>C,c.5261A>G,p.K1754R |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238275437C>T,c.5393G>A,p.R1798H |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238275360G>A,c.5470C>T,p.L1824F |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238274637C>T,c.5542G>A,p.D1848N |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238274570C>T,c.5609G>A,p.S1870N |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238274569G>T,c.5610C>A,p.S1870R |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238271991G>A,c.5968C>T,p.R1990W |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238271906G>A,c.6053C>T,p.A2018V |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238270470T>C,c.6068A>G,p.N2023S |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238262021G>A,c.6653C>T,p.P2218L |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238259829C>T,c.6760G>A,p.G2254R |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238259820C>T,c.6769G>A,p.A2257T |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238253835C>T,c.7114G>A,p.D2372N |
| COL6A3(NM_004369,collagen, type VI, alpha 3,3177aa) | g.2:238253403G>A,c.7258C>T,p.R2420W |