| 基因名 | 突变 |
|---|---|
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102054769C>T,c.1327G>A,p.A443T |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102054324T>C,c.1486A>G,p.T496A |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102054309C>T,c.1501G>A,p.V501I |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102053131C>A,c.1524G>T,p.M508I |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102051114G>A,c.1810C>T,p.R604C |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102051099T>C,c.1825A>G,p.K609E |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102050242C>A,c.1901G>T,p.R634L |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102048208G>T,c.2222C>A,p.A741D |
| PKD2L1(NM_001253837,polycystic kidney disease 2-like 1,758aa) | g.10:102048185G>A,c.2245C>T,p.R749C |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2168022C>A,c.971G>T,p.R324L |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2167673G>A,c.1202C>T,p.A401V |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2165437T>A,c.2039A>T,p.Y680F |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2165395G>A,c.2081C>T,p.P694L |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2164497A>G,c.2527T>C,p.S843P |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2164451G>A,c.2573C>T,p.T858M |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2164419G>A,c.2605C>T,p.R869C |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2164211G>A,c.2813C>T,p.T938M |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2162849T>A,c.3101A>T,p.N1034I |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2162394G>A,c.3242C>T,p.S1081L |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2162361A>G,c.3275T>C,p.M1092T |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161852G>C,c.3316C>G,p.L1106V |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161800C>T,c.3368G>A,p.R1123H |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161744G>A,c.3424C>T,p.R1142W |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161666G>A,c.3502C>T,p.P1168S |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161599C>A,c.3569G>T,p.R1190L |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161555C>G,c.3613G>C,p.D1205H |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161519C>T,c.3649G>A,p.V1217M |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2161458G>A,c.3710C>T,p.T1237M |