基因名 |
突变 |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113169736A>G,c.8144T>C,p.I2715T |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113169631G>A,c.8249C>T,p.A2750V |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113169619A>G,c.8261T>C,p.L2754S |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113169338C>T,c.8542G>A,p.E2848K |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113168822T>C,c.9058A>G,p.T3020A |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113168735C>T,c.9145G>A,p.D3049N |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113168558C>T,c.9322G>A,p.G3108R |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113168501A>G,c.9379T>C,p.S3127P |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113166832T>A,c.9441A>T,p.R3147S |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113166792A>T,c.9481T>A,p.F3161I |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113166778T>A,c.9495A>T,p.K3165N |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113163241C>T,c.9715G>A,p.V3239I |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113163238A>C,c.9718T>G,p.S3240A |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113163202C>T,c.9754G>A,p.V3252M |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113151822C>T,c.9868G>A,p.G3290R |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113149673C>T,c.9952G>A,p.G3318R |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113149612T>C,c.10013A>G,p.H3338R |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113148181C>G,c.10234G>C,p.E3412Q |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113139566G>A,c.10489C>T,p.R3497C |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113137732G>A,c.10516C>T,p.L3506F |
SVEP1(NM_153366,sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1,3571aa) |
g.9:113132221G>A,c.10676C>T,p.T3559M |
SV2C(NM_014979,synaptic vesicle glycoprotein 2C,727aa) |
g.5:75597301A>G,c.1931A>G,p.N644S |
SV2C(NM_014979,synaptic vesicle glycoprotein 2C,727aa) |
g.5:75594743G>A,c.1627G>A,p.D543N |
SV2C(NM_014979,synaptic vesicle glycoprotein 2C,727aa) |
g.5:75591710C>G,c.1445C>G,p.T482S |
SV2C(NM_014979,synaptic vesicle glycoprotein 2C,727aa) |
g.5:75581068C>T,c.995C>T,p.S332F |
SV2C(NM_014979,synaptic vesicle glycoprotein 2C,727aa) |
g.5:75428021G>A,c.446G>A,p.R149H |
SV2C(NM_014979,synaptic vesicle glycoprotein 2C,727aa) |
g.5:75427892T>A,c.317T>A,p.I106N |
SV2C(NM_014979,synaptic vesicle glycoprotein 2C,727aa) |
g.5:75427682G>A,c.107G>A,p.R36Q |