| 基因名 | 突变 |
|---|---|
| PKDCC(NM_138370,protein kinase domain containing, cytoplasmic,493aa) | g.2:42275664T>C,c.325T>C,p.S109P |
| PKD2(NM_000297,polycystic kidney disease 2 (autosomal dominant),968aa) | g.4:88996731C>T,c.2792C>T,p.T931M |
| PKD2(NM_000297,polycystic kidney disease 2 (autosomal dominant),968aa) | g.4:88989111G>A,c.2420G>A,p.R807Q |
| PKD2(NM_000297,polycystic kidney disease 2 (autosomal dominant),968aa) | g.4:88989089A>C,c.2398A>C,p.M800L |
| PKD2(NM_000297,polycystic kidney disease 2 (autosomal dominant),968aa) | g.4:88986631C>T,c.2224C>T,p.R742X |
| PKD2(NM_000297,polycystic kidney disease 2 (autosomal dominant),968aa) | g.4:88983080A>G,c.2042A>G,p.N681S |
| PKD2(NM_000297,polycystic kidney disease 2 (autosomal dominant),968aa) | g.4:88977245A>G,c.1724A>G,p.K575R |
| PKD2(NM_000297,polycystic kidney disease 2 (autosomal dominant),968aa) | g.4:88968020G>T,c.1546G>T,p.V516L |
| PKD2(NM_000297,polycystic kidney disease 2 (autosomal dominant),968aa) | g.4:88967919T>G,c.1445T>G,p.F482C |
| PKD2(NM_000297,polycystic kidney disease 2 (autosomal dominant),968aa) | g.4:88967873A>G,c.1399A>G,p.T467A |
| PKD2(NM_000297,polycystic kidney disease 2 (autosomal dominant),968aa) | g.4:88967828A>G,c.1354A>G,p.I452V |
| PKD2(NM_000297,polycystic kidney disease 2 (autosomal dominant),968aa) | g.4:88929453G>A,c.568G>A,p.A190T |
| PKD2(NM_000297,polycystic kidney disease 2 (autosomal dominant),968aa) | g.4:88929246G>T,c.361G>T,p.G121C |
| PKD2(NM_000297,polycystic kidney disease 2 (autosomal dominant),968aa) | g.4:88928968G>C,c.83G>C,p.R28P |
| PKD2L2(NM_001258449,polycystic kidney disease 2-like 2,523aa) | g.5:137271518G>T,c.1401G>T,p.W467C |
| PKD2L2(NM_001258449,polycystic kidney disease 2-like 2,523aa) | g.5:137261578A>G,c.1328A>G,p.D443G |
| PKD2L2(NM_001258449,polycystic kidney disease 2-like 2,523aa) | g.5:137259179T>C,c.1217T>C,p.L406P |
| PKD2L2(NM_001258449,polycystic kidney disease 2-like 2,523aa) | g.5:137228219T>G,c.184T>G,p.S62A |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102089663C>T,c.35G>A,p.C12Y |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102089635C>A,c.63G>T,p.K21N |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102057262C>T,c.692G>A,p.R231Q |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102056913G>A,c.868C>T,p.R290C |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102056790G>A,c.991C>T,p.R331W |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102056745C>T,c.1036G>A,p.V346I |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102056016G>A,c.1078C>T,p.R360X |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102055890C>T,c.1204G>A,p.A402T |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102054868T>C,c.1228A>G,p.I410V |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102054823G>A,c.1273C>T,p.R425C |