| 基因名 | 突变 |
|---|---|
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47913560G>T,c.3833C>A,p.P1278Q |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47913560G>A,c.3833C>T,p.P1278L |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47913548A>T,c.3845T>A,p.V1282E |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47913546C>A,c.3847G>T,p.V1283L |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47913531G>A,c.3862C>T,p.R1288C |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47913504C>T,c.3889G>A,p.E1297K |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47906115G>A,c.3994C>T,p.R1332C |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47906069C>T,c.4040G>A,p.R1347Q |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47897285G>A,c.4508C>T,p.A1503V |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47894534T>G,c.4805A>C,p.E1602A |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47894518T>A,c.4821A>T,p.K1607N |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47894496C>T,c.4843G>A,p.V1615I |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47892745A>G,c.4940T>C,p.I1647T |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47886595C>T,c.5035G>A,p.A1679T |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47886522C>T,c.5108G>A,p.R1703H |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47884662G>A,c.5168C>T,p.A1723V |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47884650A>T,c.5180T>A,p.L1727H |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47880144C>T,c.5467G>A,p.D1823N |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47879049G>A,c.5764C>T,p.R1922W |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47876566C>T,c.5896G>A,p.V1966I |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47874630G>A,c.6062C>T,p.P2021L |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47874579G>C,c.6113C>G,p.T2038S |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47870905G>T,c.6383C>A,p.A2128D |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47860690G>A,c.6949C>T,p.R2317W |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47853562C>A,c.7140G>T,p.R2380S |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47853540G>C,c.7162C>G,p.H2388D |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47852885T>C,c.7180A>G,p.R2394G |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47852837C>T,c.7228G>A,p.E2410K |