| 基因名 | 突变 |
|---|---|
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7704631A>G,c.184A>G,p.N62D |
| STX8(NM_004853,syntaxin 8,236aa) | g.17:9479112G>A,c.14C>T,p.P5L |
| STX8(NM_004853,syntaxin 8,236aa) | g.17:9448561T>A,c.251A>T,p.D84V |
| STX8(NM_004853,syntaxin 8,236aa) | g.17:9408450C>T,c.353G>A,p.R118Q |
| STX8(NM_004853,syntaxin 8,236aa) | g.17:9408381C>T,c.422G>A,p.R141Q |
| STX7(NM_003569,syntaxin 7,261aa) | g.6:132824636C>T,c.34G>A,p.A12T |
| STX5(NM_001244666,syntaxin 5,321aa) | g.11:62598600G>A,c.116C>T,p.A39V |
| STX5(NM_001244666,syntaxin 5,321aa) | g.11:62598586G>T,c.130C>A,p.P44T |
| STX5(NM_001244666,syntaxin 5,321aa) | g.11:62598564G>A,c.152C>T,p.P51L |
| STX5(NM_001244666,syntaxin 5,321aa) | g.11:62594869G>A,c.298C>T,p.R100C |
| STX5(NM_001244666,syntaxin 5,321aa) | g.11:62594689G>A,c.361C>T,p.R121C |
| STX5(NM_001244666,syntaxin 5,321aa) | g.11:62592789T>C,c.563A>G,p.N188S |
| STX5(NM_001244666,syntaxin 5,321aa) | g.11:62592777G>A,c.575C>T,p.S192L |
| STX5(NM_001244666,syntaxin 5,321aa) | g.11:62592014C>T,c.703G>A,p.A235T |
| STX4(NM_001272095,syntaxin 4,219aa) | g.16:31049298A>G,c.196A>G,p.M66V |
| STX3(NM_004177,syntaxin 3,289aa) | g.11:59559653G>A,c.431G>A,p.R144H |
| STX3(NM_004177,syntaxin 3,289aa) | g.11:59559595C>T,c.373C>T,p.R125W |
| STX3(NM_004177,syntaxin 3,289aa) | g.11:59558042C>T,c.340C>T,p.R114W |
| STX3(NM_004177,syntaxin 3,289aa) | g.11:59554589C>G,c.194C>G,p.S65C |
| STX3(NM_004177,syntaxin 3,289aa) | g.11:59540697A>G,c.44A>G,p.Q15R |
| STX2(NM_194356,syntaxin 2,288aa) | g.12:131311749A>C,c.94T>G,p.F32V |
| STX2(NM_194356,syntaxin 2,288aa) | g.12:131306314C>G,c.125G>C,p.S42T |
| STX2(NM_194356,syntaxin 2,288aa) | g.12:131306278T>C,c.161A>G,p.K54R |
| STX2(NM_194356,syntaxin 2,288aa) | g.12:131297541T>C,c.241A>G,p.I81V |
| STX2(NM_194356,syntaxin 2,288aa) | g.12:131293183C>A,c.347G>T,p.R116I |
| STX2(NM_194356,syntaxin 2,288aa) | g.12:131291598G>A,c.392C>T,p.A131V |
| STX1B(NM_052874,syntaxin 1B,288aa) | g.16:31004774G>A,c.569C>T,p.A190V |
| STX1A(NM_004603,syntaxin 1A (brain),288aa) | g.7:73122923A>G,c.204T>C,p.D68D |