基因名 |
突变 |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30893428G>A,c.2983G>A,p.A995T |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30893127G>A,c.2840G>A,p.R947Q |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30893105G>A,c.2818G>A,p.V940M |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30893081C>T,c.2794C>T,p.R932C |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30893054C>T,c.2767C>T,p.H923Y |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30892215C>T,c.2641C>T,p.R881C |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30891229G>A,c.2503G>A,p.V835I |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30890989T>C,c.2384T>C,p.V795A |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30890988G>C,c.2383G>C,p.V795L |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30890987T>A,c.2382T>A,p.F794L |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30890483G>T,c.2128G>T,p.V710L |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30889936C>T,c.1940C>T,p.T647M |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30889424C>T,c.1781C>T,p.A594V |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30889403C>A,c.1760C>A,p.A587D |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30889393C>T,c.1750C>T,p.R584W |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30888876C>T,c.1604C>T,p.S535F |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30888494C>T,c.1537C>T,p.R513C |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30888161T>C,c.1435T>C,p.W479R |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30884719T>C,c.826T>C,p.C276R |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30883561G>A,c.513G>A,p.M171I |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30883231A>G,c.473A>G,p.Q158R |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30882803G>A,c.280G>A,p.G94R |
VARS2(NM_001167734,valyl-tRNA synthetase 2, mitochondrial,1093aa) |
g.6:30882689C>T,c.166C>T,p.H56Y |
VAPA(NM_003574,VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa,294aa) |
g.18:9954084C>T,c.761C>T,p.S254L |
VAPA(NM_003574,VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa,294aa) |
g.18:9950508G>T,c.669G>T,p.E223D |
VAPA(NM_003574,VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa,294aa) |
g.18:9944960A>G,c.457A>G,p.M153V |
VAPA(NM_003574,VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa,294aa) |
g.18:9944924A>G,c.421A>G,p.I141V |
VANGL2(NM_020335,VANGL planar cell polarity protein 2,521aa) |
g.1:160394930C>T,c.1328C>T,p.A443V |