| 基因名 | 突变 |
|---|---|
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161315G>A,c.3853C>T,p.R1285W |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161243G>C,c.3925C>G,p.P1309A |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161237C>T,c.3931G>A,p.A1311T |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161150G>A,c.4018C>T,p.R1340W |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161116C>T,c.4052G>A,p.R1351Q |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161021C>T,c.4147G>A,p.V1383I |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2160973A>G,c.4195T>C,p.W1399R |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2160904C>T,c.4264G>A,p.A1422T |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2160828G>A,c.4340C>T,p.A1447V |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2160696C>A,c.4472G>T,p.G1491V |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2160622C>T,c.4546G>A,p.A1516T |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2160358C>T,c.4810G>A,p.V1604M |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2160088G>A,c.5080C>T,p.H1694Y |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2159850G>A,c.5318C>T,p.T1773I |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2159574C>T,c.5594G>A,p.R1865Q |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2159557C>T,c.5611G>A,p.A1871T |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2159398C>T,c.5770G>A,p.G1924S |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2159341C>T,c.5827G>A,p.V1943I |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2159286G>A,c.5882C>T,p.A1961V |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2159161C>T,c.6007G>A,p.A2003T |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2159142G>A,c.6026C>T,p.S2009L |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2159098G>A,c.6070C>T,p.R2024C |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2159082G>A,c.6086C>T,p.T2029M |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2158990C>T,c.6178G>A,p.A2060T |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2158963C>T,c.6205G>A,p.G2069S |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2158837C>T,c.6331G>A,p.E2111K |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2158773A>C,c.6395T>G,p.F2132C |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2158729G>A,c.6439C>T,p.R2147W |