基因名 |
突变 |
ACOT2(NM_006821,acyl-CoA thioesterase 2,483aa) |
g.14:74042189A>G,c.1424A>G,p.H475R |
ACOT2(NM_006821,acyl-CoA thioesterase 2,483aa) |
g.14:74041748A>G,c.983A>G,p.H328R |
ACOT2(NM_006821,acyl-CoA thioesterase 2,483aa) |
g.14:74040154C>T,c.706C>T,p.R236W |
ACOT2(NM_006821,acyl-CoA thioesterase 2,483aa) |
g.14:74040136G>A,c.688G>A,p.G230S |
ACOT2(NM_006821,acyl-CoA thioesterase 2,483aa) |
g.14:74036552T>C,c.608T>C,p.V203A |
ACOT2(NM_006821,acyl-CoA thioesterase 2,483aa) |
g.14:74036531T>A,c.587T>A,p.V196E |
ACOT2(NM_006821,acyl-CoA thioesterase 2,483aa) |
g.14:74036500C>T,c.556C>T,p.R186W |
ACOT2(NM_006821,acyl-CoA thioesterase 2,483aa) |
g.14:74036255A>G,c.311A>G,p.K104R |
ACOT2(NM_006821,acyl-CoA thioesterase 2,483aa) |
g.14:74036216A>G,c.272A>G,p.E91G |
ACOT2(NM_006821,acyl-CoA thioesterase 2,483aa) |
g.14:74035960C>T,c.16C>T,p.L6F |
ACOT1(NM_001037161,acyl-CoA thioesterase 1,421aa) |
g.14:74009920G>C,c.827G>C,p.G276A |
ACOT1(NM_001037161,acyl-CoA thioesterase 1,421aa) |
g.14:74009917T>C,c.824T>C,p.V275A |
ACOT1(NM_001037161,acyl-CoA thioesterase 1,421aa) |
g.14:74008304G>A,c.565G>A,p.A189T |
ACOT1(NM_001037161,acyl-CoA thioesterase 1,421aa) |
g.14:74004208C>G,c.83C>G,p.P28R |
ACOT13(NM_001160094,acyl-CoA thioesterase 13,117aa) |
g.6:24698219G>A,c.121G>A,p.V41I |
ACOT12(NM_130767,acyl-CoA thioesterase 12,555aa) |
g.5:80655815C>T,c.403G>A,p.V135M |
ACOT12(NM_130767,acyl-CoA thioesterase 12,555aa) |
g.5:80641789C>T,c.688G>A,p.V230I |
ACOT12(NM_130767,acyl-CoA thioesterase 12,555aa) |
g.5:80640015C>T,c.944G>A,p.R315Q |
ACOT12(NM_130767,acyl-CoA thioesterase 12,555aa) |
g.5:80631642C>T,c.1207G>A,p.A403T |
ACOT12(NM_130767,acyl-CoA thioesterase 12,555aa) |
g.5:80628348T>G,c.1339A>C,p.K447Q |
ACOT12(NM_130767,acyl-CoA thioesterase 12,555aa) |
g.5:80628318G>A,c.1369C>T,p.R457X |
ACOT12(NM_130767,acyl-CoA thioesterase 12,555aa) |
g.5:80626334C>G,c.1547G>C,p.S516T |
ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) |
g.1:55073719G>A,c.1607G>A,p.R536H |
ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) |
g.1:55073668C>T,c.1556C>T,p.T519M |
ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) |
g.1:55073647C>T,c.1535C>T,p.T512M |
ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) |
g.1:55072911C>T,c.1475C>T,p.A492V |
ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) |
g.1:55070881C>T,c.1369C>T,p.R457W |
ACOT11(NM_147161,acyl-CoA thioesterase 11,594aa) |
g.1:55070752C>T,c.1240C>T,p.R414C |