| Genename | Variants |
|---|---|
| COL8A1(NM_001850,collagen, type VIII, alpha 1,744aa) | g.3:99513830G>A,c.1085G>A,p.R362Q |
| COL8A1(NM_001850,collagen, type VIII, alpha 1,744aa) | g.3:99509813C>T,c.287C>T,p.A96V |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48631978G>A,c.89C>T,p.T30I |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48631890G>C,c.177C>G,p.S59R |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48630971T>C,c.425A>G,p.K142R |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48630626_48630628del,c.589_591del,p.197del |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48630293G>A,c.761C>T,p.A254V |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48630252G>A,c.802C>T,p.P268S |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48629834C>T,c.1043G>A,p.R348Q |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48629402G>A,c.1286C>T,p.T429I |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48629340G>A,c.1348C>T,p.R450C |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48629172G>A,c.1441C>T,p.R481C |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48628929G>T,c.1604C>A,p.T535N |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48628921G>A,c.1612C>T,p.R538C |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48628920C>T,c.1613G>A,p.R538H |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48628014G>A,c.1784C>T,p.P595L |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48628000C>G,c.1798G>C,p.A600P |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48627915C>T,c.1883G>A,p.R628Q |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48627789C>A,c.1907G>T,p.G636V |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48627786G>A,c.1910C>T,p.P637L |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48627068C>T,c.2134G>A,p.A712T |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48626832C>T,c.2242G>A,p.E748K |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48626351C>T,c.2392G>A,p.G798R |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48625763C>G,c.2662G>C,p.E888Q |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48625759G>A,c.2666C>T,p.P889L |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48625292G>A,c.2791C>T,p.R931C |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48624449G>A,c.3232C>T,p.R1078C |
| COL7A1(NM_000094,collagen, type VII, alpha 1,2944aa) | g.3:48624040C>T,c.3359G>A,p.R1120K |