| 基因名 | 突变 |
|---|---|
| TJP2(NM_004817,tight junction protein 2,1190aa) | g.9:71836337C>T,c.877C>T,p.R293W |
| TJP2(NM_004817,tight junction protein 2,1190aa) | g.9:71835842C>A,c.382C>A,p.Q128K |
| TJP2(NM_004817,tight junction protein 2,1190aa) | g.9:71833267G>A,c.334G>A,p.A112T |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30058705C>A,c.353G>T,p.R118L |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30058480C>T,c.578G>A,p.R193Q |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30053378T>A,c.974A>T,p.H325L |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30026582T>C,c.1412A>G,p.N471S |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30025436T>C,c.1598A>G,p.Y533C |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30025403C>T,c.1631G>A,p.R544H |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30018627T>C,c.2368A>G,p.I790V |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30012716G>A,c.2609C>T,p.P870L |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30011116C>T,c.3230G>A,p.R1077H |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30011099G>A,c.3247C>T,p.R1083C |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30008977T>G,c.4040A>C,p.D1347A |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30000967T>C,c.4646A>G,p.N1549S |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30000923A>G,c.4690T>C,p.S1564P |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30000883G>A,c.4730C>T,p.S1577L |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30000832G>C,c.4781C>G,p.S1594C |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:30000796T>C,c.4817A>G,p.N1606S |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:29993888G>A,c.5158C>T,p.P1720S |
| TJP1(NM_003257,tight junction protein 1,1748aa) | g.15:29993840C>A,c.5206G>T,p.V1736F |
| TJAP1(NM_001146018,tight junction associated protein 1 (peripheral),547aa) | g.6:43473211G>A,c.1262G>A,p.R421H |
| TJAP1(NM_001146018,tight junction associated protein 1 (peripheral),547aa) | g.6:43473210C>T,c.1261C>T,p.R421C |
| TJAP1(NM_001146018,tight junction associated protein 1 (peripheral),547aa) | g.6:43473181G>A,c.1232G>A,p.R411H |
| TJAP1(NM_001146018,tight junction associated protein 1 (peripheral),547aa) | g.6:43473031G>A,c.1082G>A,p.R361H |
| TJAP1(NM_001146018,tight junction associated protein 1 (peripheral),547aa) | g.6:43473025G>A,c.1076G>A,p.R359Q |
| TJAP1(NM_001146018,tight junction associated protein 1 (peripheral),547aa) | g.6:43472875C>T,c.926C>T,p.P309L |
| TJAP1(NM_001146018,tight junction associated protein 1 (peripheral),547aa) | g.6:43469389G>A,c.254G>A,p.R85H |