基因名 |
突变 |
ACACB(NM_001093,acetyl-CoA carboxylase beta,2458aa) |
g.12:109639483G>A,c.2890G>A,p.D964N |
ACACB(NM_001093,acetyl-CoA carboxylase beta,2458aa) |
g.12:109639410A>T,c.2817A>T,p.R939S |
ACACB(NM_001093,acetyl-CoA carboxylase beta,2458aa) |
g.12:109634882C>T,c.2551C>T,p.R851W |
ACACB(NM_001093,acetyl-CoA carboxylase beta,2458aa) |
g.12:109634834A>G,c.2503A>G,p.M835V |
ACACB(NM_001093,acetyl-CoA carboxylase beta,2458aa) |
g.12:109623516G>A,c.1951G>A,p.A651T |
ACACB(NM_001093,acetyl-CoA carboxylase beta,2458aa) |
g.12:109617728A>G,c.1654A>G,p.I552V |
ACACB(NM_001093,acetyl-CoA carboxylase beta,2458aa) |
g.12:109616951G>A,c.1496G>A,p.R499H |
ACACB(NM_001093,acetyl-CoA carboxylase beta,2458aa) |
g.12:109613826A>G,c.1307A>G,p.D436G |
ACACB(NM_001093,acetyl-CoA carboxylase beta,2458aa) |
g.12:109604668C>T,c.656C>T,p.P219L |
ACACB(NM_001093,acetyl-CoA carboxylase beta,2458aa) |
g.12:109577776G>A,c.566G>A,p.R189Q |
ACACB(NM_001093,acetyl-CoA carboxylase beta,2458aa) |
g.12:109577344A>G,c.134A>G,p.Q45R |
ACACB(NM_001093,acetyl-CoA carboxylase beta,2458aa) |
g.12:109577338C>T,c.128C>T,p.P43L |
ACACA(NM_198839,acetyl-CoA carboxylase alpha,2346aa) |
g.17:35601626G>A,c.2509C>T,p.P837S |
ACACA(NM_198839,acetyl-CoA carboxylase alpha,2346aa) |
g.17:35601623G>A,c.2512C>T,p.R838W |
ACACA(NM_198839,acetyl-CoA carboxylase alpha,2346aa) |
g.17:35600469C>G,c.2638G>C,p.D880H |
ACACA(NM_198839,acetyl-CoA carboxylase alpha,2346aa) |
g.17:35598930G>A,c.2860C>T,p.R954W |
ACACA(NM_198839,acetyl-CoA carboxylase alpha,2346aa) |
g.17:35592004G>C,c.3021C>G,p.D1007E |
ACACA(NM_198839,acetyl-CoA carboxylase alpha,2346aa) |
g.17:35564575C>T,c.3736G>A,p.V1246I |
ACACA(NM_198839,acetyl-CoA carboxylase alpha,2346aa) |
g.17:35549123G>C,c.4213C>G,p.L1405V |
ACAA2(NM_006111,acetyl-CoA acyltransferase 2,397aa) |
g.18:47339841C>A,c.14G>T,p.R5L |
ACAA2(NM_006111,acetyl-CoA acyltransferase 2,397aa) |
g.18:47318683A>T,c.592T>A,p.Y198N |
ACAA2(NM_006111,acetyl-CoA acyltransferase 2,397aa) |
g.18:47318626T>C,c.649A>G,p.M217V |
ACAA2(NM_006111,acetyl-CoA acyltransferase 2,397aa) |
g.18:47317912G>A,c.811C>T,p.H271Y |
ACAA2(NM_006111,acetyl-CoA acyltransferase 2,397aa) |
g.18:47310296C>T,c.1115G>A,p.R372Q |
ACAA2(NM_006111,acetyl-CoA acyltransferase 2,397aa) |
g.18:47310242G>A,c.1169C>T,p.A390V |
ACAA2(NM_006111,acetyl-CoA acyltransferase 2,397aa) |
g.18:47310224G>A,c.1187C>T,p.T396I |
ACAA1(NM_001607,acetyl-CoA acyltransferase 1,424aa) |
g.3:38170810C>G,c.516G>C,p.E172D |
ACAA1(NM_001607,acetyl-CoA acyltransferase 1,424aa) |
g.3:38168125A>C,c.693T>G,p.H231Q |