基因名 |
突变 |
TJP3(NM_001267560,tight junction protein 3,919aa) |
g.19:3730617C>A,c.526C>A,p.L176M |
TJP3(NM_001267560,tight junction protein 3,919aa) |
g.19:3730575C>T,c.484C>T,p.R162C |
TJP3(NM_001267560,tight junction protein 3,919aa) |
g.19:3730537C>T,c.446C>T,p.P149L |
TJP3(NM_001267560,tight junction protein 3,919aa) |
g.19:3730524C>T,c.433C>T,p.R145C |
TJP3(NM_001267560,tight junction protein 3,919aa) |
g.19:3730506G>A,c.415G>A,p.G139S |
TJP3(NM_001267560,tight junction protein 3,919aa) |
g.19:3730485G>A,c.394G>A,p.G132S |
TJP3(NM_001267560,tight junction protein 3,919aa) |
g.19:3730462T>G,c.371T>G,p.V124G |
TJP3(NM_001267560,tight junction protein 3,919aa) |
g.19:3730386G>A,c.295G>A,p.A99T |
TJP3(NM_001267560,tight junction protein 3,919aa) |
g.19:3728612G>A,c.59G>A,p.R20Q |
TJP3(NM_001267560,tight junction protein 3,919aa) |
g.19:3728609G>A,c.56G>A,p.R19H |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71869279A>G,c.3562A>G,p.T1188A |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71869274G>A,c.3557G>A,p.R1186Q |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71866119A>G,c.3160A>G,p.T1054A |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71866035G>A,c.3076G>A,p.E1026K |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71865988C>T,c.3029C>T,p.S1010F |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71863079C>T,c.2819C>T,p.P940L |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71863070T>C,c.2810T>C,p.L937P |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71853685G>A,c.2335G>A,p.V779M |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71853673C>T,c.2323C>T,p.R775W |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71852884C>T,c.2270C>T,p.T757I |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71851954G>A,c.2081G>A,p.G694E |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71851877G>A,c.2004G>A,p.M668I |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71851040C>G,c.1877C>G,p.T626S |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71844124G>A,c.1478G>A,p.R493K |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71843023C>A,c.1446C>A,p.D482E |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71842728C>T,c.1258C>T,p.R420C |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71840252G>A,c.985G>A,p.V329I |
TJP2(NM_004817,tight junction protein 2,1190aa) |
g.9:71836371G>A,c.911G>A,p.G304E |