| 基因名 | 突变 |
|---|---|
| NPFFR1(NM_022146,neuropeptide FF receptor 1,430aa) | g.10:72015429C>A,c.577G>T,p.A193S |
| NPFFR1(NM_022146,neuropeptide FF receptor 1,430aa) | g.10:72015419C>A,c.587G>T,p.R196L |
| NPFFR1(NM_022146,neuropeptide FF receptor 1,430aa) | g.10:72014967G>T,c.1039C>A,p.R347S |
| NPFFR1(NM_022146,neuropeptide FF receptor 1,430aa) | g.10:72014877G>A,c.1129C>T,p.R377W |
| NPFF(NM_003717,neuropeptide FF-amide peptide precursor,113aa) | g.12:53900651C>T,c.251G>A,p.W84X |
| NPFF(NM_003717,neuropeptide FF-amide peptide precursor,113aa) | g.12:53900640A>G,c.262T>C,p.W88R |
| NPEPPS(NM_006310,aminopeptidase puromycin sensitive,919aa) | g.17:45699143G>C,c.2617G>C,p.E873Q |
| NPEPPS(NM_006310,aminopeptidase puromycin sensitive,919aa) | g.17:45669428_45669429insA,c.1365+2insA,p.455Donorins |
| NPEPPS(NM_006310,aminopeptidase puromycin sensitive,919aa) | g.17:45669359T>G,c.1298T>G,p.F433C |
| NPEPL1(NM_024663,aminopeptidase-like 1,523aa) | g.20:57290369G>A,c.1559G>A,p.R520H |
| NPEPL1(NM_024663,aminopeptidase-like 1,523aa) | g.20:57290347C>G,c.1537C>G,p.L513V |
| NPEPL1(NM_024663,aminopeptidase-like 1,523aa) | g.20:57290335G>A,c.1525G>A,p.E509K |
| NPEPL1(NM_024663,aminopeptidase-like 1,523aa) | g.20:57290322T>G,c.1512T>G,p.C504W |
| NPEPL1(NM_024663,aminopeptidase-like 1,523aa) | g.20:57287542A>G,c.908A>G,p.K303R |
| NPEPL1(NM_024663,aminopeptidase-like 1,523aa) | g.20:57282224G>A,c.868G>A,p.V290I |
| NPEPL1(NM_024663,aminopeptidase-like 1,523aa) | g.20:57273764G>A,c.532G>A,p.V178M |
| NPEPL1(NM_024663,aminopeptidase-like 1,523aa) | g.20:57273761G>A,c.529G>A,p.G177S |
| NPDC1(NM_015392,neural proliferation, differentiation and control, 1,325aa) | g.9:139937517C>A,c.121G>T,p.A41S |
| NPDC1(NM_015392,neural proliferation, differentiation and control, 1,325aa) | g.9:139937508C>T,c.130G>A,p.G44R |
| NPDC1(NM_015392,neural proliferation, differentiation and control, 1,325aa) | g.9:139937387C>T,c.251G>A,p.R84Q |
| NPDC1(NM_015392,neural proliferation, differentiation and control, 1,325aa) | g.9:139935577G>A,c.322C>T,p.R108W |
| NPDC1(NM_015392,neural proliferation, differentiation and control, 1,325aa) | g.9:139935522G>A,c.377C>T,p.P126L |
| NPDC1(NM_015392,neural proliferation, differentiation and control, 1,325aa) | g.9:139935322G>A,c.500C>T,p.P167L |
| NPDC1(NM_015392,neural proliferation, differentiation and control, 1,325aa) | g.9:139935154C>T,c.592G>A,p.A198T |
| NPDC1(NM_015392,neural proliferation, differentiation and control, 1,325aa) | g.9:139935010C>T,c.664G>A,p.A222T |
| NPDC1(NM_015392,neural proliferation, differentiation and control, 1,325aa) | g.9:139934986G>A,c.688C>T,p.P230S |
| NPDC1(NM_015392,neural proliferation, differentiation and control, 1,325aa) | g.9:139934298G>A,c.904C>T,p.R302C |
| NPC2(NM_006432,Niemann-Pick disease, type C2,151aa) | g.14:74953134C>T,c.88G>A,p.V30M |