| 基因名 | 突变 |
|---|---|
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2158684G>A,c.6484C>T,p.R2162W |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2158680C>T,c.6488G>A,p.R2163Q |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2158570G>A,c.6598C>T,p.R2200C |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2158561G>A,c.6607C>T,p.R2203C |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2156647G>A,c.7241C>T,p.T2414M |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2156608G>A,c.7280C>T,p.A2427V |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2156567C>T,c.7321G>A,p.G2441S |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2156159G>A,c.7636C>T,p.H2546Y |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2156153C>G,c.7642G>C,p.E2548Q |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2155877C>T,c.7852G>A,p.V2618M |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2154640G>A,c.8020C>T,p.P2674S |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2154549G>A,c.8111C>T,p.A2704V |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2154537G>A,c.8123C>T,p.T2708M |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2153863C>T,c.8195G>A,p.R2732Q |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2153834C>T,c.8224G>A,p.E2742K |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2153776C>T,c.8282G>A,p.R2761H |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2153765G>A,c.8293C>T,p.R2765C |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2153614G>A,c.8444C>T,p.A2815V |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2153425T>C,c.8633A>G,p.N2878S |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2153395C>T,c.8663G>A,p.R2888H |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2153369C>T,c.8689G>A,p.V2897I |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2152849C>T,c.8914G>A,p.D2972N |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2152561C>T,c.9022G>A,p.V3008M |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2152468G>T,c.9115C>A,p.R3039S |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2152387A>G,c.9196T>C,p.F3066L |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2150466T>A,c.9499A>T,p.I3167F |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2150459C>T,c.9506G>A,p.R3169Q |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2150417C>T,c.9548G>A,p.R3183Q |