基因名 |
突变 |
TECTA(NM_005422,tectorin alpha,2155aa) |
g.11:121000486G>A,c.2507G>A,p.R836Q |
TECTA(NM_005422,tectorin alpha,2155aa) |
g.11:120996338G>A,c.1531G>A,p.D511N |
TECTA(NM_005422,tectorin alpha,2155aa) |
g.11:120996309C>T,c.1502C>T,p.S501F |
TECTA(NM_005422,tectorin alpha,2155aa) |
g.11:120996243C>T,c.1436C>T,p.P479L |
TECTA(NM_005422,tectorin alpha,2155aa) |
g.11:120989356G>A,c.1132G>A,p.V378M |
TECTA(NM_005422,tectorin alpha,2155aa) |
g.11:120989335A>G,c.1111A>G,p.R371G |
TECTA(NM_005422,tectorin alpha,2155aa) |
g.11:120989098A>T,c.874A>T,p.I292F |
TECTA(NM_005422,tectorin alpha,2155aa) |
g.11:120980158T>C,c.437T>C,p.I146T |
TECTA(NM_005422,tectorin alpha,2155aa) |
g.11:120973430A>G,c.56A>G,p.Q19R |
TECRL(NM_001010874,trans-2,3-enoyl-CoA reductase-like,363aa) |
g.4:65274937G>A,c.133C>T,p.P45S |
TECRL(NM_001010874,trans-2,3-enoyl-CoA reductase-like,363aa) |
g.4:65274922G>A,c.148C>T,p.P50S |
TECRL(NM_001010874,trans-2,3-enoyl-CoA reductase-like,363aa) |
g.4:65274898T>C,c.172A>G,p.T58A |
TECRL(NM_001010874,trans-2,3-enoyl-CoA reductase-like,363aa) |
g.4:65147266A>C,c.844T>G,p.C282G |
TECRL(NM_001010874,trans-2,3-enoyl-CoA reductase-like,363aa) |
g.4:65147217A>G,c.893T>C,p.V298A |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102964547G>A,c.4189G>A,p.A1397T |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102964008G>A,c.4033G>A,p.A1345T |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102918799C>T,c.3475C>T,p.R1159W |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102918789C>A,c.3465C>A,p.S1155R |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102918780C>G,c.3456C>G,p.S1152R |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102916165C>T,c.3275C>T,p.S1092L |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102912270G>A,c.3061G>A,p.D1021N |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102912150C>A,c.2941C>A,p.Q981K |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102912148G>C,c.2939G>C,p.R980T |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102904413G>A,c.2449G>A,p.V817M |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102901484G>A,c.2330G>A,p.S777N |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102901204C>G,c.2050C>G,p.L684V |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102901201A>G,c.2047A>G,p.I683V |
TECPR2(NM_014844,tectonin beta-propeller repeat containing 2,1411aa) |
g.14:102900956C>T,c.1802C>T,p.P601L |