| Genename | Variants |
|---|---|
| COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) | g.13:111125291G>A,c.2219G>A,p.R740Q |
| COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) | g.13:111121620C>T,c.2152C>T,p.P718S |
| COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) | g.13:111121570A>G,c.2102A>G,p.K701R |
| COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) | g.13:111119396G>C,c.2048G>C,p.G683A |
| COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) | g.13:111117920C>T,c.1945C>T,p.P649S |
| COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) | g.13:111117765A>G,c.1790A>G,p.K597R |
| COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) | g.13:111111235G>A,c.1550G>A,p.R517K |
| COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) | g.13:111109762G>A,c.1412G>A,p.R471H |
| COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) | g.13:111109725G>A,c.1375G>A,p.A459T |
| COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) | g.13:111102790C>G,c.1328C>G,p.P443R |
| COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) | g.13:111102718C>T,c.1256C>T,p.A419V |
| COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) | g.13:111082772G>T,c.574G>T,p.V192F |
| COL4A2(NM_001846,collagen, type IV, alpha 2,1712aa) | g.13:111080848C>T,c.395C>T,p.P132L |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110959356C>G,c.19G>C,p.V7L |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110859047C>T,c.823G>A,p.G275R |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110850889G>T,c.1210C>A,p.P404T |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110845188G>A,c.1454C>T,p.P485L |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110839625G>A,c.1588C>T,p.P530S |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110839550T>G,c.1663A>C,p.T555P |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110839540G>A,c.1673C>T,p.A558V |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110833706G>A,c.2126C>T,p.P709L |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110833685G>A,c.2147C>T,p.P716L |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110830467G>A,c.2570C>T,p.S857L |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110830258C>T,c.2647G>A,p.V883I |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110829038C>T,c.2903G>A,p.R968Q |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110827666G>A,c.3097C>T,p.P1033S |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110818603C>T,c.3997G>A,p.D1333N |
| COL4A1(NM_001845,collagen, type IV, alpha 1,1669aa) | g.13:110818598T>G,c.4002A>C,p.Q1334H |