| 基因名 | 突变 |
|---|---|
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132401596G>A,c.3763C>T,p.R1255W |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132400834G>A,c.3913C>T,p.R1305C |
| NPHP3(NM_153240,nephronophthisis 3 (adolescent),1330aa) | g.3:132400806C>G,c.3941G>C,p.S1314T |
| NPHP1(NM_000272,nephronophthisis 1 (juvenile),733aa) | g.2:110959026G>T,c.115C>A,p.P39T |
| NPHP1(NM_000272,nephronophthisis 1 (juvenile),733aa) | g.2:110922176T>C,c.860A>G,p.N287S |
| NPHP1(NM_000272,nephronophthisis 1 (juvenile),733aa) | g.2:110922102G>A,c.934C>T,p.L312F |
| NPHP1(NM_000272,nephronophthisis 1 (juvenile),733aa) | g.2:110920684G>A,c.968C>T,p.T323M |
| NPHP1(NM_000272,nephronophthisis 1 (juvenile),733aa) | g.2:110920648G>A,c.1004C>T,p.T335M |
| NPHP1(NM_000272,nephronophthisis 1 (juvenile),733aa) | g.2:110883254G>A,c.1889C>T,p.S630L |
| NPHP1(NM_000272,nephronophthisis 1 (juvenile),733aa) | g.2:110881489T>C,c.2081A>G,p.Q694R |
| NPFFR2(NM_004885,neuropeptide FF receptor 2,522aa) | g.4:73013287C>T,c.1327C>T,p.R443C |
| NPFFR2(NM_004885,neuropeptide FF receptor 2,522aa) | g.4:73013236G>A,c.1276G>A,p.G426S |
| NPFFR2(NM_004885,neuropeptide FF receptor 2,522aa) | g.4:73013235C>A,c.1275C>A,p.F425L |
| NPFFR2(NM_004885,neuropeptide FF receptor 2,522aa) | g.4:73012745C>T,c.785C>T,p.A262V |
| NPFFR2(NM_004885,neuropeptide FF receptor 2,522aa) | g.4:73003816G>A,c.694G>A,p.A232T |
| NPFFR2(NM_004885,neuropeptide FF receptor 2,522aa) | g.4:73003756G>A,c.635-1G>A,p.212Acceptor |
| NPFFR2(NM_004885,neuropeptide FF receptor 2,522aa) | g.4:72994603A>G,c.601A>G,p.M201V |
| NPFFR2(NM_004885,neuropeptide FF receptor 2,522aa) | g.4:72994525A>G,c.523A>G,p.N175D |
| NPFFR2(NM_004885,neuropeptide FF receptor 2,522aa) | g.4:72994452C>G,c.450C>G,p.F150L |
| NPFFR2(NM_004885,neuropeptide FF receptor 2,522aa) | g.4:72897872C>T,c.254C>T,p.A85V |
| NPFFR2(NM_004885,neuropeptide FF receptor 2,522aa) | g.4:72897836G>A,c.218G>A,p.S73N |
| NPFFR2(NM_004885,neuropeptide FF receptor 2,522aa) | g.4:72897832T>C,c.214T>C,p.W72R |
| NPFFR2(NM_004885,neuropeptide FF receptor 2,522aa) | g.4:72897723C>G,c.105C>G,p.S35R |
| NPFFR1(NM_022146,neuropeptide FF receptor 1,430aa) | g.10:72026149T>C,c.8-2A>G,p.3Acceptor |
| NPFFR1(NM_022146,neuropeptide FF receptor 1,430aa) | g.10:72026003G>A,c.152C>T,p.A51V |
| NPFFR1(NM_022146,neuropeptide FF receptor 1,430aa) | g.10:72025953C>T,c.202G>A,p.V68M |
| NPFFR1(NM_022146,neuropeptide FF receptor 1,430aa) | g.10:72020427C>T,c.391G>A,p.V131I |
| NPFFR1(NM_022146,neuropeptide FF receptor 1,430aa) | g.10:72015573T>G,c.433A>C,p.I145L |