| 基因名 | 突变 |
|---|---|
| TBP(NM_003194,TATA box binding protein,339aa) | g.6:170871038_170871040del,c.214_216del,p.72del |
| TBP(NM_003194,TATA box binding protein,339aa) | g.6:170871013_170871014insCAG,c.189_190insCAG,p.63_64ins1aa |
| TBPL2(NM_199047,TATA box binding protein like 2,375aa) | g.14:55907196G>C,c.68C>G,p.P23R |
| TBPL2(NM_199047,TATA box binding protein like 2,375aa) | g.14:55907172C>G,c.92G>C,p.R31P |
| TBPL2(NM_199047,TATA box binding protein like 2,375aa) | g.14:55903716C>A,c.171G>T,p.R57S |
| TBPL2(NM_199047,TATA box binding protein like 2,375aa) | g.14:55903529C>T,c.358G>A,p.E120K |
| TBPL2(NM_199047,TATA box binding protein like 2,375aa) | g.14:55903340T>C,c.547A>G,p.I183V |
| TBPL1(NM_001253676,TBP-like 1,186aa) | g.6:134303785C>A,c.215C>A,p.T72K |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2028594G>A,c.2335G>A,p.A779T |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2028156G>A,c.2069G>A,p.R690Q |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2027994G>A,c.1994G>A,p.R665Q |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2027616G>T,c.1844G>T,p.R615L |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2027193G>A,c.1579G>A,p.V527I |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2027083A>G,c.1469A>G,p.N490S |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2026891T>C,c.1369T>C,p.S457P |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2026084G>A,c.1157G>A,p.R386Q |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2025604G>C,c.880G>C,p.E294Q |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2025602A>G,c.878A>G,p.Q293R |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2025587C>T,c.863C>T,p.P288L |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2025541G>A,c.817G>A,p.V273M |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2025433G>A,c.799G>A,p.D267N |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2025255G>A,c.703G>A,p.V235M |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2025196G>A,c.644G>A,p.R215H |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2025018G>A,c.554G>A,p.R185Q |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2024784C>T,c.400C>T,p.R134C |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2024620A>G,c.319A>G,p.I107V |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2024389G>T,c.202G>T,p.D68Y |
| TBL3(NM_006453,transducin (beta)-like 3,808aa) | g.16:2024377G>A,c.190G>A,p.E64K |