| 基因名 | 突变 |
|---|---|
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110445418G>A,c.3313G>A,p.V1105I |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110441582A>G,c.3014A>G,p.N1005S |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110439252C>A,c.2867C>A,p.A956D |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110437443T>C,c.2827T>C,p.Y943H |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110437384A>G,c.2768A>G,p.H923R |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110437338G>A,c.2722G>A,p.E908K |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110432873A>G,c.2651A>G,p.Y884C |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110431462C>T,c.2497C>T,p.H833Y |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110431439A>T,c.2474A>T,p.Y825F |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110431367C>T,c.2402C>T,p.T801M |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110431356T>A,c.2391T>A,p.D797E |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110424513A>C,c.2105A>C,p.Q702P |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110418573C>T,c.1679C>T,p.P560L |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110413762T>C,c.1318T>C,p.Y440H |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110413752T>A,c.1308T>A,p.N436K |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110412530G>A,c.1238G>A,p.R413H |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110408348G>A,c.904G>A,p.V302I |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110406697T>C,c.794T>C,p.M265T |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110406671T>A,c.768T>A,p.F256L |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110397780A>G,c.490A>G,p.I164V |
| PKHD1L1(NM_177531,polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1,4243aa) | g.8:110393640G>T,c.205G>T,p.A69S |
| PKDREJ(NM_006071,polycystin (PKD) family receptor for egg jelly,2253aa) | g.22:46659186C>A,c.34G>T,p.V12L |
| PKDREJ(NM_006071,polycystin (PKD) family receptor for egg jelly,2253aa) | g.22:46659143A>G,c.77T>C,p.V26A |
| PKDREJ(NM_006071,polycystin (PKD) family receptor for egg jelly,2253aa) | g.22:46658978T>C,c.242A>G,p.H81R |
| PKDREJ(NM_006071,polycystin (PKD) family receptor for egg jelly,2253aa) | g.22:46658883_46658888del,c.332_337del,p.111_113del |
| PKDREJ(NM_006071,polycystin (PKD) family receptor for egg jelly,2253aa) | g.22:46658720G>A,c.500C>T,p.A167V |
| PKDREJ(NM_006071,polycystin (PKD) family receptor for egg jelly,2253aa) | g.22:46658624G>A,c.596C>T,p.S199F |
| PKDREJ(NM_006071,polycystin (PKD) family receptor for egg jelly,2253aa) | g.22:46658010C>T,c.1210G>A,p.A404T |