| Genename | Variants |
|---|---|
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10114740T>A,c.676A>T,p.N226Y |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10114362C>T,c.728G>A,p.R243H |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10114252C>G,c.838G>C,p.A280P |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10112346T>C,c.964A>G,p.R322G |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10112244G>A,c.1066C>T,p.R356W |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10108061C>T,c.1249G>A,p.D417N |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10107158G>C,c.1373C>G,p.P458R |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10103700G>A,c.1793C>T,p.P598L |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10102492G>A,c.1919C>T,p.P640L |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10099850G>A,c.2095C>T,p.P699S |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10097279C>T,c.2194G>A,p.E732K |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10097071C>T,c.2272G>A,p.G758R |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10096532G>A,c.2392C>T,p.R798C |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10091534C>T,c.2507G>A,p.G836D |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10090568C>T,c.2659G>A,p.G887S |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10088271C>G,c.3125G>C,p.R1042P |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10085062C>T,c.3365G>A,p.R1122H |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10085054G>A,c.3373C>T,p.P1125S |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10084624G>A,c.3529C>T,p.R1177W |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10084460A>G,c.3584T>C,p.V1195A |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10084292C>G,c.3620G>C,p.R1207P |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10080253C>T,c.4096G>A,p.V1366M |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10079093C>T,c.4282G>A,p.V1428M |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10077419C>G,c.4462G>C,p.A1488P |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10076990G>C,c.4782C>G,p.I1594M |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10071433G>A,c.4985C>T,p.T1662M |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10071365T>C,c.5053A>G,p.T1685A |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10071347C>T,c.5071G>A,p.V1691I |