
| Genename | Variants |
|---|---|
| COL4A6(NM_033641,collagen, type IV, alpha 6,1690aa) | g.X:107454918C>T,c.494G>A,p.S165N |
| COL4A6(NM_033641,collagen, type IV, alpha 6,1690aa) | g.X:107448912G>C,c.623C>G,p.P208R |
| COL4A6(NM_033641,collagen, type IV, alpha 6,1690aa) | g.X:107433688A>G,c.1360T>C,p.S454P |
| COL4A6(NM_033641,collagen, type IV, alpha 6,1690aa) | g.X:107431877C>A,c.1457G>T,p.G486V |
| COL4A6(NM_033641,collagen, type IV, alpha 6,1690aa) | g.X:107430391C>T,c.1886G>A,p.R629H |
| COL4A6(NM_033641,collagen, type IV, alpha 6,1690aa) | g.X:107430355G>A,c.1922C>T,p.P641L |
| COL4A6(NM_033641,collagen, type IV, alpha 6,1690aa) | g.X:107422653C>T,c.2147G>A,p.R716H |
| COL4A6(NM_033641,collagen, type IV, alpha 6,1690aa) | g.X:107420072C>A,c.2685G>T,p.K895N |
| COL4A6(NM_033641,collagen, type IV, alpha 6,1690aa) | g.X:107414052G>A,c.3373C>T,p.P1125S |
| COL4A6(NM_033641,collagen, type IV, alpha 6,1690aa) | g.X:107413851T>C,c.3481A>G,p.I1161V |
| COL4A6(NM_033641,collagen, type IV, alpha 6,1690aa) | g.X:107408648C>A,c.3760G>T,p.A1254S |
| COL4A6(NM_033641,collagen, type IV, alpha 6,1690aa) | g.X:107408623C>T,c.3785G>A,p.R1262Q |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:228012183A>G,c.17T>C,p.I6T |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227967506C>T,c.929G>A,p.R310Q |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227964361C>G,c.1074G>C,p.L358F |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227963412G>A,c.1202C>T,p.A401V |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227954599G>A,c.1444C>T,p.P482S |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227953425G>A,c.1567C>T,p.L523F |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227946893C>G,c.1634G>C,p.G545A |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227946863G>A,c.1664C>T,p.A555V |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227924228G>A,c.2276C>T,p.P759L |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227920748G>A,c.2629C>T,p.R877W |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227920747C>T,c.2630G>A,p.R877Q |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227919330C>T,c.2840G>A,p.R947Q |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227917090T>C,c.2899A>G,p.I967V |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227915847C>T,c.2996G>A,p.G999E |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227915832G>A,c.3011C>T,p.P1004L |
| COL4A4(NM_000092,collagen, type IV, alpha 4,1690aa) | g.2:227912247G>A,c.3233C>T,p.A1078V |