| 基因名 | 突变 |
|---|---|
| GGA1(NM_001172688,golgi-associated, gamma adaptin ear containing, ARF binding protein 1,566aa) | g.22:38028089G>A,c.1396G>A,p.D466N |
| GGA1(NM_001172688,golgi-associated, gamma adaptin ear containing, ARF binding protein 1,566aa) | g.22:38028066G>A,c.1373G>A,p.R458Q |
| GGA1(NM_001172688,golgi-associated, gamma adaptin ear containing, ARF binding protein 1,566aa) | g.22:38026992G>A,c.1195G>A,p.A399T |
| GGA1(NM_001172688,golgi-associated, gamma adaptin ear containing, ARF binding protein 1,566aa) | g.22:38026077C>G,c.1012C>G,p.Q338E |
| GGA1(NM_001172688,golgi-associated, gamma adaptin ear containing, ARF binding protein 1,566aa) | g.22:38026059G>A,c.994G>A,p.E332K |
| GGA1(NM_001172688,golgi-associated, gamma adaptin ear containing, ARF binding protein 1,566aa) | g.22:38025489C>G,c.895C>G,p.P299A |
| GGA1(NM_001172688,golgi-associated, gamma adaptin ear containing, ARF binding protein 1,566aa) | g.22:38021039G>A,c.677G>A,p.R226Q |
| GGA1(NM_001172688,golgi-associated, gamma adaptin ear containing, ARF binding protein 1,566aa) | g.22:38019460G>A,c.517G>A,p.E173K |
| GGA1(NM_001172688,golgi-associated, gamma adaptin ear containing, ARF binding protein 1,566aa) | g.22:38019458G>A,c.515G>A,p.S172N |
| GFRAL(NM_207410,GDNF family receptor alpha like,394aa) | g.6:55266625T>C,c.1159T>C,p.S387P |
| GFRAL(NM_207410,GDNF family receptor alpha like,394aa) | g.6:55223838C>T,c.854C>T,p.T285M |
| GFRAL(NM_207410,GDNF family receptor alpha like,394aa) | g.6:55216344A>G,c.664A>G,p.S222G |
| GFRAL(NM_207410,GDNF family receptor alpha like,394aa) | g.6:55216231A>G,c.551A>G,p.Q184R |
| GFRAL(NM_207410,GDNF family receptor alpha like,394aa) | g.6:55216194C>T,c.514C>T,p.R172W |
| GFRAL(NM_207410,GDNF family receptor alpha like,394aa) | g.6:55214932G>T,c.359G>T,p.R120L |
| GFRAL(NM_207410,GDNF family receptor alpha like,394aa) | g.6:55214895G>A,c.322G>A,p.V108M |
| GFRAL(NM_207410,GDNF family receptor alpha like,394aa) | g.6:55198727T>G,c.301T>G,p.C101G |
| GFRAL(NM_207410,GDNF family receptor alpha like,394aa) | g.6:55198604A>T,c.178A>T,p.M60L |
| GFRAL(NM_207410,GDNF family receptor alpha like,394aa) | g.6:55196587C>T,c.97C>T,p.R33C |
| GFRAL(NM_207410,GDNF family receptor alpha like,394aa) | g.6:55196575G>C,c.85G>C,p.E29Q |
| GFRA4(NM_145762,GDNF family receptor alpha 4,299aa) | g.20:3641868A>T,c.115T>A,p.C39S |
| GFRA4(NM_145762,GDNF family receptor alpha 4,299aa) | g.20:3641528C>A,c.455G>T,p.R152L |
| GFRA4(NM_145762,GDNF family receptor alpha 4,299aa) | g.20:3640569G>A,c.887C>T,p.P296L |
| GFRA3(NM_001496,GDNF family receptor alpha 3,400aa) | g.5:137600157T>G,c.172A>C,p.S58R |
| GFRA3(NM_001496,GDNF family receptor alpha 3,400aa) | g.5:137599971C>T,c.358G>A,p.V120I |
| GFRA3(NM_001496,GDNF family receptor alpha 3,400aa) | g.5:137599964C>T,c.365G>A,p.R122H |
| GFRA3(NM_001496,GDNF family receptor alpha 3,400aa) | g.5:137589766C>T,c.869G>A,p.R290Q |
| GFRA2(NM_001495,GDNF family receptor alpha 2,464aa) | g.8:21640407C>G,c.45G>C,p.E15D |