| 基因名 | 突变 |
|---|---|
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48623867C>A,c.3448G>T,p.A1150S |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48623628C>T,c.3602G>A,p.R1201H |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48623625C>T,c.3605G>A,p.R1202H |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48623145G>A,c.3809C>T,p.P1270L |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48623136T>G,c.3818A>C,p.D1273A |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48623124G>A,c.3830C>T,p.P1277L |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48622995C>T,c.3889G>A,p.E1297K |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48621919G>A,c.4118C>T,p.S1373L |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48621017G>A,c.4373C>T,p.P1458L |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48620456G>A,c.4508C>T,p.A1503V |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48620447C>T,c.4517G>A,p.R1506Q |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48620046G>A,c.4559C>T,p.P1520L |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48617223C>T,c.5149G>A,p.E1717K |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48616680G>A,c.5338C>T,p.R1780W |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48614331C>T,c.5590G>A,p.A1864T |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48613965G>A,c.5726C>T,p.T1909M |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48613683G>A,c.5819C>T,p.P1940L |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48613112G>A,c.5926C>T,p.R1976W |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48613108C>A,c.5930G>T,p.R1977L |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48611979A>G,c.6398T>C,p.V2133A |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48611929C>T,c.6448G>A,p.G2150S |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48610667G>C,c.6654C>G,p.G2218G |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48609588C>T,c.6995G>A,p.R2332Q |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48609465C>T,c.7037G>A,p.R2346H |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48608349G>A,c.7217C>T,p.P2406L |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48605933G>A,c.7793C>T,p.P2598L |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48605569C>T,c.7829G>A,p.R2610Q |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48605012G>A,c.8041C>T,p.P2681S |