| 基因名 | 突变 |
|---|---|
| SNAPC3(NM_001039697,small nuclear RNA activating complex, polypeptide 3, 50kDa,411aa) | g.9:15447191T>G,c.681T>G,p.I227M |
| SNAPC3(NM_001039697,small nuclear RNA activating complex, polypeptide 3, 50kDa,411aa) | g.9:15444648G>A,c.526G>A,p.E176K |
| SNAPC3(NM_001039697,small nuclear RNA activating complex, polypeptide 3, 50kDa,411aa) | g.9:15423046G>C,c.169G>C,p.G57R |
| SNAPC3(NM_001039697,small nuclear RNA activating complex, polypeptide 3, 50kDa,411aa) | g.9:15422960A>G,c.83A>G,p.N28S |
| SNAPC3(NM_001039697,small nuclear RNA activating complex, polypeptide 3, 50kDa,411aa) | g.9:15422911A>G,c.34A>G,p.S12G |
| SNAPC2(NM_003083,small nuclear RNA activating complex, polypeptide 2, 45kDa,334aa) | g.19:7987101C>T,c.554C>T,p.A185V |
| SNAPC2(NM_003083,small nuclear RNA activating complex, polypeptide 2, 45kDa,334aa) | g.19:7986971C>G,c.424C>G,p.P142A |
| SNAPC2(NM_003083,small nuclear RNA activating complex, polypeptide 2, 45kDa,334aa) | g.19:7986638C>G,c.352C>G,p.L118V |
| SNAPC2(NM_003083,small nuclear RNA activating complex, polypeptide 2, 45kDa,334aa) | g.19:7986398C>T,c.274C>T,p.R92W |
| SNAPC1(NM_003082,small nuclear RNA activating complex, polypeptide 1, 43kDa,368aa) | g.14:62259562del,c.1014del,p.338fs |
| SNAPC1(NM_003082,small nuclear RNA activating complex, polypeptide 1, 43kDa,368aa) | g.14:62249083C>T,c.944C>T,p.P315L |
| SNAPC1(NM_003082,small nuclear RNA activating complex, polypeptide 1, 43kDa,368aa) | g.14:62249073A>G,c.934A>G,p.R312G |
| SNAPC1(NM_003082,small nuclear RNA activating complex, polypeptide 1, 43kDa,368aa) | g.14:62233733C>A,c.268C>A,p.L90M |
| SNAPC1(NM_003082,small nuclear RNA activating complex, polypeptide 1, 43kDa,368aa) | g.14:62229285T>G,c.107T>G,p.M36R |
| SNAP91(NM_001256717,synaptosomal-associated protein, 91kDa,816aa) | g.6:84388514G>A,c.8C>T,p.A3V |
| SNAP91(NM_001256717,synaptosomal-associated protein, 91kDa,816aa) | g.6:84366496T>C,c.530A>G,p.N177S |
| SNAP91(NM_001256717,synaptosomal-associated protein, 91kDa,816aa) | g.6:84315452C>T,c.982G>A,p.A328T |
| SNAP91(NM_001256717,synaptosomal-associated protein, 91kDa,816aa) | g.6:84311029T>C,c.1174A>G,p.T392A |
| SNAP91(NM_001256717,synaptosomal-associated protein, 91kDa,816aa) | g.6:84303295G>T,c.1487C>A,p.A496D |
| SNAP91(NM_001256717,synaptosomal-associated protein, 91kDa,816aa) | g.6:84303230T>C,c.1552A>G,p.T518A |
| SNAP91(NM_001256717,synaptosomal-associated protein, 91kDa,816aa) | g.6:84300969C>A,c.1702G>T,p.A568S |
| SNAP91(NM_001256717,synaptosomal-associated protein, 91kDa,816aa) | g.6:84291977G>A,c.1840C>T,p.P614S |
| SNAP91(NM_001256717,synaptosomal-associated protein, 91kDa,816aa) | g.6:84291956A>G,c.1861T>C,p.S621P |
| SNAP47(NM_053052,synaptosomal-associated protein, 47kDa,464aa) | g.1:227968303G>A,c.1324G>A,p.V442I |
| SNAP47(NM_053052,synaptosomal-associated protein, 47kDa,464aa) | g.1:227954689C>T,c.1153C>T,p.R385C |
| SNAP47(NM_053052,synaptosomal-associated protein, 47kDa,464aa) | g.1:227954677C>T,c.1141C>T,p.R381C |
| SNAP47(NM_053052,synaptosomal-associated protein, 47kDa,464aa) | g.1:227947156G>A,c.1093G>A,p.A365T |
| SNAP47(NM_053052,synaptosomal-associated protein, 47kDa,464aa) | g.1:227947138G>T,c.1075G>T,p.A359S |