| 基因名 | 突变 |
|---|---|
| UPK1A(NM_001281443,uroplakin 1A,273aa) | g.19:36164436G>C,c.457G>C,p.V153L |
| UPK1A(NM_001281443,uroplakin 1A,273aa) | g.19:36159539C>T,c.268C>T,p.R90W |
| UPK1A(NM_001281443,uroplakin 1A,273aa) | g.19:36159524G>A,c.253G>A,p.A85T |
| UPK1A(NM_001281443,uroplakin 1A,273aa) | g.19:36159449G>A,c.178G>A,p.V60I |
| UPK1A(NM_001281443,uroplakin 1A,273aa) | g.19:36159368T>G,c.97T>G,p.S33A |
| UPK1A(NM_001281443,uroplakin 1A,273aa) | g.19:36157740C>T,c.26C>T,p.A9V |
| UPF3B(NM_080632,UPF3 regulator of nonsense transcripts homolog B (yeast),483aa) | g.X:118985476C>T,c.352G>A,p.V118I |
| UPF3B(NM_080632,UPF3 regulator of nonsense transcripts homolog B (yeast),483aa) | g.X:118971949C>T,c.1073G>A,p.R358H |
| UPF3A(NM_023011,UPF3 regulator of nonsense transcripts homolog A (yeast),476aa) | g.13:115070330A>G,c.1369A>G,p.R457G |
| UPF3A(NM_023011,UPF3 regulator of nonsense transcripts homolog A (yeast),476aa) | g.13:115067313A>G,c.1115A>G,p.H372R |
| UPF3A(NM_023011,UPF3 regulator of nonsense transcripts homolog A (yeast),476aa) | g.13:115067309G>A,c.1111G>A,p.A371T |
| UPF3A(NM_023011,UPF3 regulator of nonsense transcripts homolog A (yeast),476aa) | g.13:115064444A>G,c.976A>G,p.M326V |
| UPF3A(NM_023011,UPF3 regulator of nonsense transcripts homolog A (yeast),476aa) | g.13:115064423G>A,c.955G>A,p.A319T |
| UPF3A(NM_023011,UPF3 regulator of nonsense transcripts homolog A (yeast),476aa) | g.13:115064382T>C,c.914T>C,p.I305T |
| UPF3A(NM_023011,UPF3 regulator of nonsense transcripts homolog A (yeast),476aa) | g.13:115052084C>T,c.611C>T,p.A204V |
| UPF3A(NM_023011,UPF3 regulator of nonsense transcripts homolog A (yeast),476aa) | g.13:115051869G>A,c.514G>A,p.E172K |
| UPF3A(NM_023011,UPF3 regulator of nonsense transcripts homolog A (yeast),476aa) | g.13:115048358C>T,c.361C>T,p.P121S |
| UPF3A(NM_023011,UPF3 regulator of nonsense transcripts homolog A (yeast),476aa) | g.13:115047496G>C,c.208G>C,p.V70L |
| UPF3A(NM_023011,UPF3 regulator of nonsense transcripts homolog A (yeast),476aa) | g.13:115047305G>A,c.191G>A,p.R64K |
| UPF3A(NM_023011,UPF3 regulator of nonsense transcripts homolog A (yeast),476aa) | g.13:115047281C>T,c.167C>T,p.A56V |
| UPF2(NM_080599,UPF2 regulator of nonsense transcripts homolog (yeast),1272aa) | g.10:12077409C>T,c.14G>A,p.R5H |
| UPF2(NM_080599,UPF2 regulator of nonsense transcripts homolog (yeast),1272aa) | g.10:12077202T>G,c.221A>C,p.K74T |
| UPF2(NM_080599,UPF2 regulator of nonsense transcripts homolog (yeast),1272aa) | g.10:12077155C>T,c.268G>A,p.E90K |
| UPF2(NM_080599,UPF2 regulator of nonsense transcripts homolog (yeast),1272aa) | g.10:12077076T>G,c.347A>C,p.E116A |
| UPF2(NM_080599,UPF2 regulator of nonsense transcripts homolog (yeast),1272aa) | g.10:12071120G>A,c.769C>T,p.P257S |
| UPF2(NM_080599,UPF2 regulator of nonsense transcripts homolog (yeast),1272aa) | g.10:12046659T>C,c.1374A>G,p.I458M |
| UPF2(NM_080599,UPF2 regulator of nonsense transcripts homolog (yeast),1272aa) | g.10:12046546T>C,c.1487A>G,p.N496S |
| UPF2(NM_080599,UPF2 regulator of nonsense transcripts homolog (yeast),1272aa) | g.10:12043768C>G,c.1561G>C,p.E521Q |