| Genename | Variants |
|---|---|
| CPT1B(NM_152245,carnitine palmitoyltransferase 1B (muscle),772aa) | g.22:51015389G>A,c.356C>T,p.T119M |
| CPT1B(NM_152245,carnitine palmitoyltransferase 1B (muscle),772aa) | g.22:51015365G>A,c.380C>T,p.T127I |
| CPT1B(NM_152245,carnitine palmitoyltransferase 1B (muscle),772aa) | g.22:51012950C>T,c.857G>A,p.R286H |
| CPT1B(NM_152245,carnitine palmitoyltransferase 1B (muscle),772aa) | g.22:51012775C>T,c.959G>A,p.G320D |
| CPT1B(NM_152245,carnitine palmitoyltransferase 1B (muscle),772aa) | g.22:51011376G>C,c.1280C>G,p.S427C |
| CPT1B(NM_152245,carnitine palmitoyltransferase 1B (muscle),772aa) | g.22:51011373T>C,c.1283A>G,p.Y428C |
| CPT1B(NM_152245,carnitine palmitoyltransferase 1B (muscle),772aa) | g.22:51009953C>T,c.1591G>A,p.E531K |
| CPT1B(NM_152245,carnitine palmitoyltransferase 1B (muscle),772aa) | g.22:51009826G>A,c.1718C>T,p.A573V |
| CPT1B(NM_152245,carnitine palmitoyltransferase 1B (muscle),772aa) | g.22:51009806G>A,c.1738C>T,p.R580W |
| CPT1B(NM_152245,carnitine palmitoyltransferase 1B (muscle),772aa) | g.22:51009468G>T,c.1880C>A,p.A627E |
| CPT1B(NM_152245,carnitine palmitoyltransferase 1B (muscle),772aa) | g.22:51008045A>G,c.2195T>C,p.I732T |
| CPT1A(NM_001876,carnitine palmitoyltransferase 1A (liver),773aa) | g.11:68574988C>A,c.400G>T,p.G134W |
| CPT1A(NM_001876,carnitine palmitoyltransferase 1A (liver),773aa) | g.11:68574954C>T,c.434G>A,p.R145H |
| CPT1A(NM_001876,carnitine palmitoyltransferase 1A (liver),773aa) | g.11:68571505C>T,c.518G>A,p.R173H |
| CPT1A(NM_001876,carnitine palmitoyltransferase 1A (liver),773aa) | g.11:68566781T>C,c.598A>G,p.K200E |
| CPT1A(NM_001876,carnitine palmitoyltransferase 1A (liver),773aa) | g.11:68566778G>A,c.601C>T,p.R201W |
| CPT1A(NM_001876,carnitine palmitoyltransferase 1A (liver),773aa) | g.11:68562328C>T,c.823G>A,p.A275T |
| CPT1A(NM_001876,carnitine palmitoyltransferase 1A (liver),773aa) | g.11:68562300C>T,c.851G>A,p.R284H |
| CPT1A(NM_001876,carnitine palmitoyltransferase 1A (liver),773aa) | g.11:68562288C>T,c.863G>A,p.R288Q |
| CPT1A(NM_001876,carnitine palmitoyltransferase 1A (liver),773aa) | g.11:68529121G>A,c.1910C>T,p.S637F |
| CPT1A(NM_001876,carnitine palmitoyltransferase 1A (liver),773aa) | g.11:68529098G>A,c.1933C>T,p.R645C |
| CPT1A(NM_001876,carnitine palmitoyltransferase 1A (liver),773aa) | g.11:68527074T>C,c.2198A>G,p.N733S |
| CPSF7(NM_024811,cleavage and polyadenylation specific factor 7, 59kDa,514aa) | g.11:61189064T>C,c.200A>G,p.N67S |
| CPSF6(NM_007007,cleavage and polyadenylation specific factor 6, 68kDa,551aa) | g.12:69651628G>A,c.637G>A,p.G213S |
| CPSF4(NM_006693,cleavage and polyadenylation specific factor 4, 30kDa,269aa) | g.7:99051712G>A,c.694G>A,p.A232T |
| CPSF4L(NM_001129885,cleavage and polyadenylation specific factor 4-like,179aa) | g.17:71253955G>A,c.172C>T,p.R58X |
| CPSF4L(NM_001129885,cleavage and polyadenylation specific factor 4-like,179aa) | g.17:71250099G>T,c.374C>A,p.P125H |
| CPSF4L(NM_001129885,cleavage and polyadenylation specific factor 4-like,179aa) | g.17:71244668G>A,c.505C>T,p.R169W |