| 基因名 | 突变 |
|---|---|
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51930807A>G,c.847T>C,p.F283L |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51923171G>A,c.1462C>T,p.R488W |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51923146C>T,c.1487G>A,p.R496Q |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51921714T>C,c.1576A>G,p.I526V |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51921514G>A,c.1675C>T,p.R559W |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51920485G>A,c.1736C>T,p.T579M |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51918951A>G,c.1849T>C,p.Y617H |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51918923T>C,c.1877A>G,p.K626R |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51918008C>T,c.2006G>A,p.R669H |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51917987G>C,c.2027C>G,p.P676R |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51915066C>A,c.2168G>T,p.R723L |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51914991G>A,c.2243C>T,p.A748V |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51914956G>A,c.2278C>T,p.R760C |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51913406G>A,c.2291C>T,p.T764I |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51913349C>T,c.2348G>A,p.R783Q |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51910905T>C,c.2489A>G,p.N830S |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51910887A>G,c.2507T>C,p.V836A |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51909843G>A,c.2636C>T,p.T879M |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51908518C>T,c.2726G>A,p.R909Q |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51897951G>A,c.3241C>T,p.R1081C |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51897879A>G,c.3313T>C,p.S1105P |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51893107T>C,c.3407A>G,p.Y1136C |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51890952A>G,c.3656T>C,p.I1219T |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51890874G>A,c.3734C>T,p.A1245V |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51890823G>A,c.3785C>T,p.A1262V |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51890773C>T,c.3835G>A,p.A1279T |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51890655T>A,c.3953A>T,p.H1318L |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51890599C>T,c.4009G>A,p.D1337N |