| 基因名 | 突变 |
|---|---|
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51609303A>G,c.10036T>C,p.C3346R |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51524479C>T,c.10445G>A,p.R3482H |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51524409G>T,c.10515C>A,p.S3505R |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51524339C>G,c.10585G>C,p.E3529Q |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51524333T>C,c.10591A>G,p.I3531V |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51523790C>T,c.11134G>A,p.A3712T |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51512913G>A,c.11314C>T,p.R3772X |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51512909C>A,c.11318G>T,p.R3773I |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51512889G>A,c.11338C>T,p.P3780S |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51497503C>T,c.11525G>A,p.R3842Q |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51497503C>A,c.11525G>T,p.R3842L |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51491884T>C,c.11696A>G,p.Q3899R |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51491866A>T,c.11714T>A,p.I3905N |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51491842C>T,c.11738G>A,p.R3913H |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51484234C>T,c.11870G>A,p.R3957H |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51484226C>T,c.11878G>A,p.V3960I |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51483961T>C,c.12143A>G,p.Q4048R |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110539201C>G,c.12673C>G,p.L4225V |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110539186G>A,c.12658G>A,p.V4220I |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110534466C>G,c.12083C>G,p.A4028G |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110530680A>G,c.11974A>G,p.I3992V |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110530470C>A,c.11764C>A,p.L3922I |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110527429C>T,c.11584C>T,p.L3862F |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110523072T>C,c.11462T>C,p.I3821T |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110523018A>G,c.11408A>G,p.H3803R |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110520022G>A,c.11125G>A,p.G3709R |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110510993C>A,c.10821C>A,p.D3607E |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110510985C>T,c.10813C>T,p.L3605F |