| 基因名 | 突变 |
|---|---|
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2150253C>T,c.9626G>A,p.R3209H |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2147895G>A,c.10141C>T,p.L3381F |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2147874C>T,c.10162G>A,p.A3388T |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2147777G>A,c.10172C>T,p.A3391V |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2147500C>G,c.10225G>C,p.V3409L |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2147485C>T,c.10240G>A,p.G3414S |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2147410G>A,c.10315C>T,p.R3439W |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2147409C>T,c.10316G>A,p.R3439Q |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2147359C>T,c.10366G>A,p.A3456T |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2144182G>A,c.10529C>T,p.T3510M |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2144176G>A,c.10535C>T,p.A3512V |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2143955C>T,c.10678G>A,p.G3560R |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2143622G>A,c.10939C>T,p.R3647W |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2143546C>T,c.11015G>A,p.R3672Q |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2142977G>A,c.11134C>T,p.R3712W |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2142126G>T,c.11333C>A,p.T3778N |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2142112C>T,c.11347G>A,p.V3783I |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2141171C>A,c.11717G>T,p.C3906F |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2140680T>C,c.12133A>G,p.I4045V |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2140554G>A,c.12176C>T,p.A4059V |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2140454T>C,c.12276A>G,p.A4092A |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2140294C>T,c.12436G>A,p.V4146I |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2139969G>T,c.12671C>A,p.T4224N |
| PKD1(NM_001009944,polycystic kidney disease 1 (autosomal dominant),4303aa) | g.16:2139814G>A,c.12826C>T,p.R4276W |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47988031C>T,c.7G>A,p.E3K |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47983031A>T,c.122T>A,p.L41Q |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47979831G>A,c.244C>T,p.R82W |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47971562C>T,c.490G>A,p.A164T |