| 基因名 | 突变 |
|---|---|
| NPBWR2(NM_005286,neuropeptides B/W receptor 2,333aa) | g.20:62737512C>T,c.673G>A,p.V225M |
| NPBWR2(NM_005286,neuropeptides B/W receptor 2,333aa) | g.20:62737467G>A,c.718C>T,p.R240W |
| NPBWR2(NM_005286,neuropeptides B/W receptor 2,333aa) | g.20:62737452G>A,c.733C>T,p.R245C |
| NPBWR2(NM_005286,neuropeptides B/W receptor 2,333aa) | g.20:62737214C>T,c.971G>A,p.R324Q |
| NPBWR1(NM_005285,neuropeptides B/W receptor 1,328aa) | g.8:53852871A>T,c.404A>T,p.Y135F |
| NPBWR1(NM_005285,neuropeptides B/W receptor 1,328aa) | g.8:53852607T>C,c.140T>C,p.I47T |
| NPB(NM_148896,neuropeptide B,125aa) | g.17:79860616G>A,c.370G>A,p.A124T |
| NPB(NM_148896,neuropeptide B,125aa) | g.17:79860542G>T,c.296G>T,p.R99L |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108060001T>C,c.388A>G,p.T130A |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108059901T>C,c.488A>G,p.Q163R |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108057243T>G,c.692A>C,p.N231T |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108044363A>C,c.1348T>G,p.L450V |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108044091T>A,c.1620A>T,p.L540F |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108043988C>T,c.1723G>A,p.V575I |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108043912C>A,c.1799G>T,p.C600F |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108043888A>G,c.1823T>C,p.V608A |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108043885G>C,c.1826C>G,p.S609C |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108043849A>G,c.1862T>C,p.V621A |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108043648G>A,c.2063C>T,p.T688M |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108043536_108043538del,c.2173_2175del,p.725del |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108040484G>T,c.2997C>A,p.N999K |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108032875C>T,c.3043G>A,p.G1015S |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108032707G>T,c.3106C>A,p.L1036I |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108032676G>A,c.3137C>T,p.P1046L |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108032614C>T,c.3199G>A,p.D1067N |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108032479T>C,c.3334A>G,p.N1112D |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108032331T>C,c.3482A>G,p.H1161R |
| NPAT(NM_002519,nuclear protein, ataxia-telangiectasia locus,1427aa) | g.11:108032233C>A,c.3580G>T,p.G1194C |