| 基因名 | 突变 |
|---|---|
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51890542G>A,c.4066C>T,p.L1356F |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51890265T>C,c.4343A>G,p.E1448G |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51889764G>A,c.4844C>T,p.T1615M |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51889738G>A,c.4870C>T,p.R1624W |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51889483G>A,c.5125C>T,p.L1709F |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51882397C>T,c.5411G>A,p.R1804H |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51882310G>A,c.5498C>T,p.S1833L |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51875250A>C,c.5608T>G,p.L1870V |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51875133G>A,c.5725C>T,p.R1909W |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51824808T>A,c.5768A>T,p.Q1923L |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51777251G>A,c.6245C>T,p.T2082I |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51751973G>A,c.7067C>T,p.P2356L |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51751949A>T,c.7091T>A,p.I2364N |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51751935T>G,c.7105A>C,p.T2369P |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51747977A>C,c.7264T>G,p.C2422G |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51747956C>T,c.7285G>A,p.V2429I |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51732721C>T,c.7673G>A,p.R2558Q |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51732719C>G,c.7675G>C,p.V2559L |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51720792G>A,c.7810C>T,p.R2604C |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51712738C>T,c.7942G>A,p.G2648S |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51656139A>C,c.8335T>G,p.F2779V |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51637561T>C,c.8581A>G,p.S2861G |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51637536G>T,c.8606C>A,p.T2869K |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51613199G>A,c.9215C>T,p.A3072V |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51612999C>A,c.9415G>T,p.D3139Y |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51612837C>T,c.9577G>A,p.V3193I |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51612752G>A,c.9662C>T,p.P3221L |
| PKHD1(NM_138694,polycystic kidney and hepatic disease 1 (autosomal recessive),4074aa) | g.6:51611651C>A,c.9866G>T,p.S3289I |