| Genename | Variants |
|---|---|
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46875817G>A,c.373G>A,p.V125I |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46875623C>T,c.179C>T,p.T60I |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46875575C>T,c.131C>T,p.T44M |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105840422T>C,c.10A>G,p.T4A |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105836074G>A,c.316C>T,p.R106C |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105830262G>A,c.529C>T,p.R177W |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105830261C>T,c.530G>A,p.R177Q |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105830225C>G,c.566G>C,p.G189A |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105824333G>A,c.629C>T,p.T210M |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105824204G>A,c.758C>T,p.A253V |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105823571C>T,c.772G>A,p.G258R |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105821178C>T,c.964G>A,p.V322I |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105819431T>C,c.1187A>G,p.Y396C |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105816916C>T,c.1282G>A,p.G428S |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105816892C>T,c.1306G>A,p.G436R |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105816862C>T,c.1336G>A,p.G446S |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105815638G>A,c.1589C>T,p.A530V |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105815635G>A,c.1592C>T,p.A531V |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105815150C>T,c.1697G>A,p.R566Q |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105810400T>C,c.2107A>G,p.M703V |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105807535C>T,c.2297G>A,p.R766H |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105805530C>T,c.2384G>A,p.R795Q |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105801253G>A,c.2595C>T,p.R865R |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105800166T>A,c.2704A>T,p.T902S |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105800115C>T,c.2755G>A,p.D919N |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105799263C>T,c.2836G>A,p.G946R |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105797517A>C,c.3085T>G,p.S1029A |
| COL17A1(NM_000494,collagen, type XVII, alpha 1,1497aa) | g.10:105797397G>A,c.3205C>T,p.R1069W |