| 基因名 | 突变 |
|---|---|
| ADSSL1(NM_199165,adenylosuccinate synthase like 1,500aa) | g.14:105212707C>G,c.1435C>G,p.H479D |
| ADSSL1(NM_199165,adenylosuccinate synthase like 1,500aa) | g.14:105212683A>G,c.1411A>G,p.N471D |
| ADSSL1(NM_199165,adenylosuccinate synthase like 1,500aa) | g.14:105209528C>T,c.1202C>T,p.A401V |
| ADSSL1(NM_199165,adenylosuccinate synthase like 1,500aa) | g.14:105208254C>T,c.992C>T,p.P331L |
| ADSSL1(NM_199165,adenylosuccinate synthase like 1,500aa) | g.14:105207039C>T,c.707C>T,p.S236F |
| ADSSL1(NM_199165,adenylosuccinate synthase like 1,500aa) | g.14:105207002C>T,c.670C>T,p.R224C |
| ADSSL1(NM_199165,adenylosuccinate synthase like 1,500aa) | g.14:105196402C>G,c.173C>G,p.P58R |
| ADSSL1(NM_199165,adenylosuccinate synthase like 1,500aa) | g.14:105196230A>C,c.1A>C,p.M1L |
| ADSL(NM_000026,adenylosuccinate lyase,484aa) | g.22:40760956G>T,c.1264G>T,p.D422Y |
| ADSL(NM_000026,adenylosuccinate lyase,484aa) | g.22:40760290G>A,c.1112G>A,p.R371Q |
| ADSL(NM_000026,adenylosuccinate lyase,484aa) | g.22:40757292C>T,c.808C>T,p.R270C |
| ADSL(NM_000026,adenylosuccinate lyase,484aa) | g.22:40754971C>T,c.586C>T,p.R196W |
| ADSL(NM_000026,adenylosuccinate lyase,484aa) | g.22:40742582A>G,c.20A>G,p.H7R |
| ADSL(NM_000026,adenylosuccinate lyase,484aa) | g.22:40742567C>T,c.5C>T,p.A2V |
| ADRM1(NM_007002,adhesion regulating molecule 1,407aa) | g.20:60883791G>A,c.1198G>A,p.E400K |
| ADRM1(NM_007002,adhesion regulating molecule 1,407aa) | g.20:60883783A>C,c.1190A>C,p.K397T |
| ADRM1(NM_007002,adhesion regulating molecule 1,407aa) | g.20:60883769_60883770insGACACGAAG,c.1176_1177insGACACGAAG,p.392_393ins3aa |
| ADRM1(NM_007002,adhesion regulating molecule 1,407aa) | g.20:60883191C>T,c.971C>T,p.A324V |
| ADRM1(NM_007002,adhesion regulating molecule 1,407aa) | g.20:60882747C>A,c.719C>A,p.T240N |
| ADRM1(NM_007002,adhesion regulating molecule 1,407aa) | g.20:60878683A>G,c.59A>G,p.N20S |
| ADRBK2(NM_005160,adrenergic, beta, receptor kinase 2,688aa) | g.22:26118409G>A,c.2059G>A,p.G687S |
| ADRBK2(NM_005160,adrenergic, beta, receptor kinase 2,688aa) | g.22:26105900G>T,c.1364G>T,p.G455V |
| ADRBK2(NM_005160,adrenergic, beta, receptor kinase 2,688aa) | g.22:26068297G>A,c.538G>A,p.V180I |
| ADRBK1(NM_001619,adrenergic, beta, receptor kinase 1,689aa) | g.11:67052784A>G,c.1933A>G,p.K645E |
| ADRBK1(NM_001619,adrenergic, beta, receptor kinase 1,689aa) | g.11:67048250T>C,c.551T>C,p.I184T |
| ADRBK1(NM_001619,adrenergic, beta, receptor kinase 1,689aa) | g.11:67047365T>C,c.497T>C,p.I166T |
| ADRBK1(NM_001619,adrenergic, beta, receptor kinase 1,689aa) | g.11:67046935G>A,c.311G>A,p.R104H |
| ADRBK1(NM_001619,adrenergic, beta, receptor kinase 1,689aa) | g.11:67046914C>T,c.290C>T,p.T97M |