| 基因名 | 突变 |
|---|---|
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47852786C>T,c.7279G>A,p.V2427M |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47851623C>T,c.7373G>A,p.R2458Q |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47851578G>A,c.7418C>T,p.S2473F |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47851492C>T,c.7504G>A,p.V2502I |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47847877T>C,c.7795A>G,p.M2599V |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47842876T>G,c.7894A>C,p.I2632L |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47840468C>A,c.7972G>T,p.A2658S |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47840450G>C,c.7990C>G,p.L2664V |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47840387C>T,c.8053G>A,p.A2685T |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47840310C>G,c.8130G>C,p.Q2710H |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47840308C>T,c.8132G>A,p.R2711Q |
| PKD1L1(NM_138295,polycystic kidney disease 1 like 1,2849aa) | g.7:47832377A>G,c.8374T>C,p.F2792L |
| PJA2(NM_014819,praja ring finger 2, E3 ubiquitin protein ligase,708aa) | g.5:108717395T>C,c.41A>G,p.Q14R |
| PJA2(NM_014819,praja ring finger 2, E3 ubiquitin protein ligase,708aa) | g.5:108714922A>G,c.266T>C,p.L89S |
| PJA2(NM_014819,praja ring finger 2, E3 ubiquitin protein ligase,708aa) | g.5:108714557C>T,c.631G>A,p.A211T |
| PJA2(NM_014819,praja ring finger 2, E3 ubiquitin protein ligase,708aa) | g.5:108714529G>A,c.659C>T,p.P220L |
| PJA2(NM_014819,praja ring finger 2, E3 ubiquitin protein ligase,708aa) | g.5:108714298T>C,c.890A>G,p.Q297R |
| PJA2(NM_014819,praja ring finger 2, E3 ubiquitin protein ligase,708aa) | g.5:108714175G>A,c.1013C>T,p.A338V |
| PJA2(NM_014819,praja ring finger 2, E3 ubiquitin protein ligase,708aa) | g.5:108713984C>T,c.1204G>A,p.A402T |
| PJA2(NM_014819,praja ring finger 2, E3 ubiquitin protein ligase,708aa) | g.5:108713923T>C,c.1265A>G,p.Y422C |
| PJA2(NM_014819,praja ring finger 2, E3 ubiquitin protein ligase,708aa) | g.5:108672946C>T,c.2113G>A,p.A705T |
| PJA1(NM_145119,praja ring finger 1, E3 ubiquitin protein ligase,643aa) | g.X:68382376C>A,c.706G>T,p.A236S |
| PJA1(NM_145119,praja ring finger 1, E3 ubiquitin protein ligase,643aa) | g.X:68381797C>T,c.1285G>A,p.A429T |
| PJA1(NM_145119,praja ring finger 1, E3 ubiquitin protein ligase,643aa) | g.X:68381787C>T,c.1295G>A,p.S432N |
| PJA1(NM_145119,praja ring finger 1, E3 ubiquitin protein ligase,643aa) | g.X:68381264C>A,c.1818G>T,p.E606D |
| PJA1(NM_145119,praja ring finger 1, E3 ubiquitin protein ligase,643aa) | g.X:68381165G>C,c.1917C>G,p.F639L |
| PIWIL4(NM_152431,piwi-like RNA-mediated gene silencing 4,852aa) | g.11:94354102C>A,c.2503C>A,p.Q835K |
| PIWIL4(NM_152431,piwi-like RNA-mediated gene silencing 4,852aa) | g.11:94341770G>A,c.1861G>A,p.G621S |