| 基因名 | 突变 |
|---|---|
| MBOAT7(NM_024298,membrane bound O-acyltransferase domain containing 7,472aa) | g.19:54678078G>A,c.1079C>T,p.P360L |
| MBOAT7(NM_024298,membrane bound O-acyltransferase domain containing 7,472aa) | g.19:54678025G>A,c.1132C>T,p.R378W |
| MBOAT7(NM_024298,membrane bound O-acyltransferase domain containing 7,472aa) | g.19:54677793C>T,c.1364G>A,p.R455Q |
| MBOAT4(NM_001100916,membrane bound O-acyltransferase domain containing 4,435aa) | g.8:29996256T>C,c.136A>G,p.T46A |
| MBOAT4(NM_001100916,membrane bound O-acyltransferase domain containing 4,435aa) | g.8:29990214G>A,c.553C>T,p.R185X |
| MBOAT4(NM_001100916,membrane bound O-acyltransferase domain containing 4,435aa) | g.8:29990156G>A,c.611C>T,p.A204V |
| MBOAT4(NM_001100916,membrane bound O-acyltransferase domain containing 4,435aa) | g.8:29990075C>T,c.692G>A,p.G231E |
| MBOAT4(NM_001100916,membrane bound O-acyltransferase domain containing 4,435aa) | g.8:29989832C>T,c.935G>A,p.R312Q |
| MBOAT2(NM_138799,membrane bound O-acyltransferase domain containing 2,520aa) | g.2:9013424C>T,c.697G>A,p.V233I |
| MBOAT2(NM_138799,membrane bound O-acyltransferase domain containing 2,520aa) | g.2:8998990A>G,c.1382T>C,p.L461S |
| MBOAT2(NM_138799,membrane bound O-acyltransferase domain containing 2,520aa) | g.2:8998871T>C,c.1501A>G,p.T501A |
| MBOAT2(NM_138799,membrane bound O-acyltransferase domain containing 2,520aa) | g.2:8998841T>C,c.1531A>G,p.I511V |
| MBOAT1(NM_001080480,membrane bound O-acyltransferase domain containing 1,495aa) | g.6:20212410T>C,c.56A>G,p.Y19C |
| MBOAT1(NM_001080480,membrane bound O-acyltransferase domain containing 1,495aa) | g.6:20126749G>A,c.713C>T,p.T238I |
| MBOAT1(NM_001080480,membrane bound O-acyltransferase domain containing 1,495aa) | g.6:20124710G>A,c.836C>T,p.P279L |
| MBOAT1(NM_001080480,membrane bound O-acyltransferase domain containing 1,495aa) | g.6:20113229G>C,c.1087C>G,p.Q363E |
| MBOAT1(NM_001080480,membrane bound O-acyltransferase domain containing 1,495aa) | g.6:20113198G>A,c.1118C>T,p.T373I |
| MBOAT1(NM_001080480,membrane bound O-acyltransferase domain containing 1,495aa) | g.6:20109956A>G,c.1234T>C,p.F412L |
| MBOAT1(NM_001080480,membrane bound O-acyltransferase domain containing 1,495aa) | g.6:20109842T>C,c.1348A>G,p.I450V |
| MB(NM_203377,myoglobin,154aa) | g.22:36003390C>T,c.419G>A,p.R140Q |
| MBNL2(NM_144778,muscleblind-like splicing regulator 2,367aa) | g.13:97999281C>T,c.764C>T,p.A255V |
| MBNL2(NM_144778,muscleblind-like splicing regulator 2,367aa) | g.13:97995367C>T,c.437C>T,p.T146M |
| MBNL1(NM_021038,muscleblind-like splicing regulator 1,382aa) | g.3:152150509A>G,c.349A>G,p.M117V |
| MBLAC2(NM_203406,metallo-beta-lactamase domain containing 2,279aa) | g.5:89769986C>A,c.124G>T,p.V42L |
| MBLAC2(NM_203406,metallo-beta-lactamase domain containing 2,279aa) | g.5:89769974T>A,c.136A>T,p.T46S |
| MBLAC2(NM_203406,metallo-beta-lactamase domain containing 2,279aa) | g.5:89769728T>C,c.382A>G,p.T128A |
| MBLAC1(NM_203397,metallo-beta-lactamase domain containing 1,266aa) | g.7:99725631G>A,c.613G>A,p.A205T |
| MBLAC1(NM_203397,metallo-beta-lactamase domain containing 1,266aa) | g.7:99725424G>A,c.406G>A,p.D136N |