基因名 |
突变 |
VWA1(NM_022834,von Willebrand factor A domain containing 1,445aa) |
g.1:1374805G>C,c.976G>C,p.A326P |
VWA1(NM_022834,von Willebrand factor A domain containing 1,445aa) |
g.1:1374485A>G,c.656A>G,p.H219R |
VWA1(NM_022834,von Willebrand factor A domain containing 1,445aa) |
g.1:1372720G>A,c.487G>A,p.V163I |
VWA1(NM_022834,von Willebrand factor A domain containing 1,445aa) |
g.1:1372537C>A,c.304C>A,p.R102S |
VTN(NM_000638,vitronectin,478aa) |
g.17:26696768A>G,c.289T>C,p.S97P |
VTN(NM_000638,vitronectin,478aa) |
g.17:26696680T>A,c.377A>T,p.E126V |
VTN(NM_000638,vitronectin,478aa) |
g.17:26696354C>T,c.625G>A,p.A209T |
VTN(NM_000638,vitronectin,478aa) |
g.17:26695967G>A,c.752C>T,p.P251L |
VTN(NM_000638,vitronectin,478aa) |
g.17:26695549T>A,c.972A>T,p.R324S |
VTN(NM_000638,vitronectin,478aa) |
g.17:26694861G>A,c.1199C>T,p.T400M |
VTN(NM_000638,vitronectin,478aa) |
g.17:26694460G>A,c.1367C>T,p.T456I |
VTI1B(NM_006370,vesicle transport through interaction with t-SNAREs 1B,232aa) |
g.14:68126560C>T,c.254G>A,p.R85Q |
VTI1B(NM_006370,vesicle transport through interaction with t-SNAREs 1B,232aa) |
g.14:68123282T>C,c.391A>G,p.M131V |
VTI1B(NM_006370,vesicle transport through interaction with t-SNAREs 1B,232aa) |
g.14:68123146C>T,c.527G>A,p.R176H |
VTI1B(NM_006370,vesicle transport through interaction with t-SNAREs 1B,232aa) |
g.14:68120181C>T,c.575G>A,p.R192Q |
VTI1B(NM_006370,vesicle transport through interaction with t-SNAREs 1B,232aa) |
g.14:68120164T>C,c.592A>G,p.M198V |
VTI1A(NM_145206,vesicle transport through interaction with t-SNAREs 1A,217aa) |
g.10:114428754G>A,c.557G>A,p.R186Q |
VTI1A(NM_145206,vesicle transport through interaction with t-SNAREs 1A,217aa) |
g.10:114428727G>C,c.530G>C,p.S177T |
VTI1A(NM_145206,vesicle transport through interaction with t-SNAREs 1A,217aa) |
g.10:114298089G>A,c.427G>A,p.E143K |
VTI1A(NM_145206,vesicle transport through interaction with t-SNAREs 1A,217aa) |
g.10:114286892T>C,c.311T>C,p.L104P |
VTI1A(NM_145206,vesicle transport through interaction with t-SNAREs 1A,217aa) |
g.10:114220306A>G,c.118A>G,p.N40D |
VTCN1(NM_001253849,V-set domain containing T cell activation inhibitor 1,187aa) |
g.1:117699342C>T,c.14G>A,p.R5Q |
VTCN1(NM_001253849,V-set domain containing T cell activation inhibitor 1,187aa) |
g.1:117699283C>G,c.73G>C,p.V25L |
VTCN1(NM_001253849,V-set domain containing T cell activation inhibitor 1,187aa) |
g.1:117699207T>C,c.149A>G,p.Y50C |
VTCN1(NM_001253849,V-set domain containing T cell activation inhibitor 1,187aa) |
g.1:117695862G>A,c.290C>T,p.S97L |
VTA1(NM_016485,vesicle (multivesicular body) trafficking 1,307aa) |
g.6:142539730G>A,c.874G>A,p.V292I |
VTA1(NM_016485,vesicle (multivesicular body) trafficking 1,307aa) |
g.6:142491540T>G,c.393T>G,p.F131L |
VTA1(NM_016485,vesicle (multivesicular body) trafficking 1,307aa) |
g.6:142468446C>A,c.22C>A,p.P8T |