Genename |
Variants |
CARS(NM_001194997,cysteinyl-tRNA synthetase,809aa) |
g.11:3050233C>T,c.1024G>A,p.G342S |
CARS(NM_001194997,cysteinyl-tRNA synthetase,809aa) |
g.11:3039670C>G,c.1597G>C,p.E533Q |
CARS(NM_001194997,cysteinyl-tRNA synthetase,809aa) |
g.11:3039151C>T,c.1663G>A,p.A555T |
CARS(NM_001194997,cysteinyl-tRNA synthetase,809aa) |
g.11:3038481T>C,c.1772A>G,p.N591S |
CARS(NM_001194997,cysteinyl-tRNA synthetase,809aa) |
g.11:3028163C>T,c.2095G>A,p.A699T |
CARS(NM_001194997,cysteinyl-tRNA synthetase,809aa) |
g.11:3022456T>A,c.2392A>T,p.R798W |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111357899C>T,c.244G>A,p.V82I |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111353876C>T,c.302G>A,p.R101Q |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111353855A>C,c.323T>G,p.F108C |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111340350C>T,c.409G>A,p.A137T |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111340101T>A,c.538A>T,p.I180F |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111335479T>C,c.574A>G,p.N192D |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111335467C>T,c.586G>A,p.D196N |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111335425C>T,c.628G>A,p.V210M |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111335406C>T,c.647G>A,p.G216E |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111303422T>C,c.1013A>G,p.D338G |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111299509G>A,c.1132C>T,p.R378C |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111299473C>T,c.1168G>A,p.V390I |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111298415C>T,c.1216G>A,p.V406M |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111298354A>C,c.1277T>G,p.L426R |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111294762G>A,c.1523C>T,p.T508M |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111294750C>T,c.1535G>A,p.R512Q |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111294747C>T,c.1538G>A,p.R513Q |
CARS2(NM_024537,cysteinyl-tRNA synthetase 2, mitochondrial (putative),564aa) |
g.13:111293915T>G,c.1664A>C,p.Q555P |
CARNS1(NM_001166222,carnosine synthase 1,950aa) |
g.11:67191877C>A,c.2658C>A,p.H886Q |
CARNS1(NM_001166222,carnosine synthase 1,950aa) |
g.11:67191774G>A,c.2555G>A,p.R852H |
CARNS1(NM_001166222,carnosine synthase 1,950aa) |
g.11:67191632G>A,c.2413G>A,p.G805R |
CARNS1(NM_001166222,carnosine synthase 1,950aa) |
g.11:67191572C>T,c.2353C>T,p.R785C |