| 基因名 | 突变 |
|---|---|
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48604575C>T,c.8095G>A,p.E2699K |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48604107C>T,c.8290G>A,p.E2764K |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48603993G>A,c.8308C>T,p.R2770W |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48602623G>A,c.8539C>T,p.P2847S |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130381152C>T,c.6502C>T,p.R2168C |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130381038G>A,c.6388G>A,p.E2130K |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130380774C>T,c.6124C>T,p.R2042C |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130380675C>T,c.6025C>T,p.R2009W |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130368350A>G,c.5677A>G,p.I1893V |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130368098G>A,c.5425G>A,p.A1809T |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130368069A>G,c.5396A>G,p.H1799R |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130361862G>A,c.5222G>A,p.R1741H |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130361861C>T,c.5221C>T,p.R1741C |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130361856G>A,c.5216G>A,p.R1739Q |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130360545C>T,c.5141C>T,p.P1714L |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130360527C>T,c.5123C>T,p.S1708F |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130354550T>C,c.5036T>C,p.I1679T |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130346199C>T,c.4978C>T,p.R1660C |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130346196G>A,c.4975G>A,p.G1659R |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130346185A>G,c.4964A>G,p.Y1655C |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130345381G>A,c.4931G>A,p.R1644H |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130329508G>T,c.4768G>T,p.A1590S |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130318628G>A,c.4627G>A,p.G1543R |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130312064A>T,c.4438A>T,p.R1480X |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130311398C>T,c.4286C>T,p.A1429V |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130307999G>A,c.4191G>A,p.M1397I |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130305358G>A,c.3979G>A,p.A1327T |
| COL6A6(NM_001102608,collagen, type VI, alpha 6,2263aa) | g.3:130300513G>A,c.3656G>A,p.R1219H |