| 基因名 | 突变 |
|---|---|
| TKTL1(NM_012253,transketolase-like 1,596aa) | g.X:153539340C>G,c.504C>G,p.H168Q |
| TK2(NM_001271934,thymidine kinase 2, mitochondrial,216aa) | g.16:66565357C>T,c.154G>A,p.D52N |
| TK2(NM_001271934,thymidine kinase 2, mitochondrial,216aa) | g.16:66562931C>T,c.268G>A,p.A90T |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3750615T>C,c.2693T>C,p.M898T |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3748047C>T,c.2578C>T,p.R860C |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3747913C>T,c.2444C>T,p.A815V |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3747910G>A,c.2441G>A,p.G814D |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3746846C>T,c.2294C>T,p.T765M |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3746772A>C,c.2222-2A>C,p.741Acceptor |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3746628G>A,c.2156G>A,p.R719H |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3746624C>T,c.2152C>T,p.R718C |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3746532A>G,c.2060A>G,p.N687S |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3746493C>T,c.2021C>T,p.A674V |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3746491T>A,c.2019T>A,p.H673Q |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3746069T>C,c.2000T>C,p.I667T |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3743948C>T,c.1855C>T,p.R619C |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3739107C>T,c.1606C>T,p.R536W |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3738999G>A,c.1498G>A,p.D500N |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3738661A>G,c.1393A>G,p.I465V |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3736239G>A,c.1204G>A,p.V402M |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3736212G>A,c.1177G>A,p.G393R |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3735934G>A,c.1127+1G>A,p.376Donor |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3734434G>A,c.986+1G>A,p.329Donor |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3734387C>T,c.940C>T,p.R314W |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3733848G>A,c.815G>A,p.R272H |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3733757G>C,c.724G>C,p.G242R |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3732005G>A,c.686G>A,p.R229H |
| TJP3(NM_001267560,tight junction protein 3,919aa) | g.19:3731941G>A,c.622G>A,p.V208I |