| 基因名 | 突变 |
|---|---|
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110466965C>T,c.6758C>T,p.T2253I |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110465078del,c.6639del,p.2213fs |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110465061C>A,c.6622C>A,p.L2208M |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110464962C>T,c.6523C>T,p.L2175F |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110464954C>T,c.6515C>T,p.A2172V |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110464510G>A,c.6507+1G>A,p.2169Donor |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110463357C>T,c.6329C>T,p.T2110I |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110463284G>A,c.6256G>A,p.A2086T |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110460488G>T,c.5893G>T,p.V1965L |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110457746G>T,c.5648G>T,p.R1883L |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110457745C>T,c.5647C>T,p.R1883C |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110457700G>A,c.5602G>A,p.E1868K |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110457592C>T,c.5494C>T,p.P1832S |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110457561G>C,c.5463G>C,p.L1821F |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110457185G>T,c.5087G>T,p.G1696V |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110457011A>G,c.4913A>G,p.Y1638C |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110457007G>C,c.4909G>C,p.V1637L |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110456917G>A,c.4819G>A,p.V1607I |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110456899G>T,c.4801G>T,p.G1601C |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110455956C>G,c.4616C>G,p.T1539R |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110455334C>A,c.4553C>A,p.T1518K |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110455321C>A,c.4540C>A,p.R1514S |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110454337G>A,c.4306G>A,p.G1436R |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110453028C>A,c.4046C>A,p.T1349N |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110451186C>T,c.3821C>T,p.A1274V |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110450593G>T,c.3668G>T,p.G1223V |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110448635A>G,c.3574A>G,p.T1192A |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110447512G>C,c.3434G>C,p.G1145A |