| 基因名 | 突变 |
|---|---|
| UPK3B(NM_030570,uroplakin 3B,320aa) | g.7:76140186T>C,c.217T>C,p.S73P |
| UPK3B(NM_030570,uroplakin 3B,320aa) | g.7:76140183G>A,c.214G>A,p.V72I |
| UPK3BL(NM_001114403,uroplakin 3B-like,263aa) | g.7:102279621C>T,c.511G>A,p.E171K |
| UPK3BL(NM_001114403,uroplakin 3B-like,263aa) | g.7:102279581C>T,c.551G>A,p.R184H |
| UPK3A(NM_006953,uroplakin 3A,287aa) | g.22:45691554C>T,c.818C>T,p.P273L |
| UPK3A(NM_006953,uroplakin 3A,287aa) | g.22:45691521C>T,c.785C>T,p.S262L |
| UPK3A(NM_006953,uroplakin 3A,287aa) | g.22:45689118G>A,c.628G>A,p.V210I |
| UPK3A(NM_006953,uroplakin 3A,287aa) | g.22:45685013G>A,c.560G>A,p.R187H |
| UPK3A(NM_006953,uroplakin 3A,287aa) | g.22:45684998G>A,c.545G>A,p.W182X |
| UPK3A(NM_006953,uroplakin 3A,287aa) | g.22:45683304G>C,c.460G>C,p.A154P |
| UPK3A(NM_006953,uroplakin 3A,287aa) | g.22:45683200T>C,c.356T>C,p.I119T |
| UPK3A(NM_006953,uroplakin 3A,287aa) | g.22:45683116A>T,c.272A>T,p.Q91L |
| UPK3A(NM_006953,uroplakin 3A,287aa) | g.22:45683107C>T,c.263C>T,p.T88M |
| UPK2(NM_006760,uroplakin 2,184aa) | g.11:118828867C>T,c.479C>T,p.T160M |
| UPK2(NM_006760,uroplakin 2,184aa) | g.11:118828806G>T,c.419-1G>T,p.140Acceptor |
| UPK2(NM_006760,uroplakin 2,184aa) | g.11:118827987G>A,c.278G>A,p.G93D |
| UPK2(NM_006760,uroplakin 2,184aa) | g.11:118827682del,c.166del,p.56fs |
| UPK2(NM_006760,uroplakin 2,184aa) | g.11:118827665C>A,c.149C>A,p.P50H |
| UPK2(NM_006760,uroplakin 2,184aa) | g.11:118827082C>T,c.22C>T,p.R8W |
| UPK1B(NM_006952,uroplakin 1B,260aa) | g.3:118922804T>C,c.773T>C,p.I258T |
| UPK1B(NM_006952,uroplakin 1B,260aa) | g.3:118909892A>G,c.409A>G,p.N137D |
| UPK1B(NM_006952,uroplakin 1B,260aa) | g.3:118909159A>G,c.338A>G,p.Q113R |
| UPK1B(NM_006952,uroplakin 1B,260aa) | g.3:118906740T>C,c.188T>C,p.I63T |
| UPK1B(NM_006952,uroplakin 1B,260aa) | g.3:118905614G>A,c.26G>A,p.R9H |
| UPK1A(NM_001281443,uroplakin 1A,273aa) | g.19:36168731C>T,c.764C>T,p.S255L |
| UPK1A(NM_001281443,uroplakin 1A,273aa) | g.19:36167174C>T,c.685C>T,p.R229C |
| UPK1A(NM_001281443,uroplakin 1A,273aa) | g.19:36166854C>T,c.581C>T,p.T194M |
| UPK1A(NM_001281443,uroplakin 1A,273aa) | g.19:36166815A>G,c.542A>G,p.E181G |