| 基因名 | 突变 |
|---|---|
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110510964A>C,c.10792A>C,p.S3598R |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110510941G>A,c.10769G>A,p.R3590Q |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110510904T>G,c.10732T>G,p.W3578G |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110510782G>C,c.10691G>C,p.R3564P |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110510781C>T,c.10690C>T,p.R3564W |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110505963A>G,c.10310A>G,p.D3437G |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110505957G>A,c.10304G>A,p.R3435H |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110504218A>G,c.10231A>G,p.I3411V |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110504158G>A,c.10171G>A,p.V3391I |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110499005C>T,c.9835C>T,p.R3279C |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110498978G>A,c.9808G>A,p.G3270S |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110495303T>C,c.9545T>C,p.V3182A |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110493660A>G,c.9328-2A>G,p.3110Acceptor |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110492352C>T,c.9311C>T,p.T3104I |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110492279G>A,c.9238G>A,p.V3080I |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110491840C>G,c.9150C>G,p.H3050Q |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110478929C>T,c.8536C>T,p.R2846C |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110478857C>T,c.8464C>T,p.H2822Y |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110477352A>C,c.8291A>C,p.N2764T |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110477066C>T,c.8005C>T,p.Q2669X |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110476953T>A,c.7892T>A,p.F2631Y |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110476842G>A,c.7781G>A,p.G2594E |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110476776G>A,c.7715G>A,p.R2572Q |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110476685T>A,c.7624T>A,p.L2542M |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110472066G>C,c.7246+1G>C,p.2416Donor |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110471994T>C,c.7175T>C,p.I2392T |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110471940C>A,c.7121C>A,p.P2374H |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110468518G>A,c.6902G>A,p.R2301H |