| 基因名 | 突变 |
|---|---|
| TBX15(NM_152380,T-box 15,496aa) | g.1:119427467A>C,c.1379T>G,p.M460R |
| TBX10(NM_005995,T-box 10,385aa) | g.11:67402653C>T,c.89G>A,p.R30Q |
| TBX10(NM_005995,T-box 10,385aa) | g.11:67402362T>G,c.302A>C,p.K101T |
| TBX10(NM_005995,T-box 10,385aa) | g.11:67402333A>T,c.331T>A,p.Y111N |
| TBX10(NM_005995,T-box 10,385aa) | g.11:67401722G>A,c.487C>T,p.R163C |
| TBX10(NM_005995,T-box 10,385aa) | g.11:67400552C>T,c.572G>A,p.R191H |
| TBX10(NM_005995,T-box 10,385aa) | g.11:67400514G>A,c.610C>T,p.R204C |
| TBX10(NM_005995,T-box 10,385aa) | g.11:67400475A>T,c.649T>A,p.S217T |
| TBX10(NM_005995,T-box 10,385aa) | g.11:67399845C>T,c.812G>A,p.R271Q |
| TBX10(NM_005995,T-box 10,385aa) | g.11:67399173C>T,c.1061G>A,p.R354Q |
| TBRG4(NM_004749,transforming growth factor beta regulator 4,631aa) | g.7:45148814C>T,c.23G>A,p.R8Q |
| TBRG4(NM_004749,transforming growth factor beta regulator 4,631aa) | g.7:45148773C>A,c.64G>T,p.A22S |
| TBRG4(NM_004749,transforming growth factor beta regulator 4,631aa) | g.7:45148667G>A,c.170C>T,p.P57L |
| TBRG4(NM_004749,transforming growth factor beta regulator 4,631aa) | g.7:45148545T>G,c.292A>C,p.N98H |
| TBRG4(NM_004749,transforming growth factor beta regulator 4,631aa) | g.7:45148520C>T,c.317G>A,p.R106Q |
| TBRG4(NM_004749,transforming growth factor beta regulator 4,631aa) | g.7:45148473T>G,c.364A>C,p.I122L |
| TBRG4(NM_004749,transforming growth factor beta regulator 4,631aa) | g.7:45144277T>C,c.767A>G,p.N256S |
| TBRG4(NM_004749,transforming growth factor beta regulator 4,631aa) | g.7:45139959T>C,c.1861A>G,p.M621V |
| TBRG1(NM_032811,transforming growth factor beta regulator 1,411aa) | g.11:124502114C>T,c.1216C>T,p.P406S |
| TBRG1(NM_032811,transforming growth factor beta regulator 1,411aa) | g.11:124501987A>G,c.1091-2A>G,p.364Acceptor |
| TBRG1(NM_032811,transforming growth factor beta regulator 1,411aa) | g.11:124501233C>T,c.1010C>T,p.P337L |
| TBRG1(NM_032811,transforming growth factor beta regulator 1,411aa) | g.11:124501181G>T,c.958G>T,p.V320L |
| TBRG1(NM_032811,transforming growth factor beta regulator 1,411aa) | g.11:124500641G>C,c.837G>C,p.M279I |
| TBRG1(NM_032811,transforming growth factor beta regulator 1,411aa) | g.11:124500368A>G,c.823A>G,p.I275V |
| TBRG1(NM_032811,transforming growth factor beta regulator 1,411aa) | g.11:124495764A>G,c.419A>G,p.K140R |
| TBP(NM_003194,TATA box binding protein,339aa) | g.6:170871140A>G,c.316A>G,p.T106A |
| TBP(NM_003194,TATA box binding protein,339aa) | g.6:170871047_170871055del,c.223_231del,p.75_77del |
| TBP(NM_003194,TATA box binding protein,339aa) | g.6:170871047_170871052del,c.223_228del,p.75_76del |