| 基因名 | 突变 |
|---|---|
| MARCH9(NM_138396,membrane-associated ring finger (C3HC4) 9,346aa) | g.12:58152556G>A,c.917G>A,p.R306Q |
| MARCH9(NM_138396,membrane-associated ring finger (C3HC4) 9,346aa) | g.12:58152526C>T,c.887C>T,p.T296M |
| MARCH9(NM_138396,membrane-associated ring finger (C3HC4) 9,346aa) | g.12:58152501C>T,c.862C>T,p.R288W |
| MARCH8(NM_001002265,membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase,291aa) | g.10:46028557C>T,c.102+1G>A,p.34Donor |
| MARCH8(NM_001002265,membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase,291aa) | g.10:45959762G>A,c.167C>T,p.P56L |
| MARCH8(NM_001002265,membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase,291aa) | g.10:45959729A>G,c.200T>C,p.F67S |
| MARCH8(NM_001002265,membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase,291aa) | g.10:45956828G>A,c.274C>T,p.P92S |
| MARCH8(NM_001002265,membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase,291aa) | g.10:45956743G>A,c.359C>T,p.T120M |
| MARCH8(NM_001002265,membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase,291aa) | g.10:45953767A>G,c.796T>C,p.Y266H |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160605293G>A,c.1492G>A,p.D498N |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160604936G>A,c.1135G>A,p.G379S |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160604889A>G,c.1088A>G,p.N363S |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160604768G>A,c.967G>A,p.A323T |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160604568A>G,c.767A>G,p.N256S |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160604541G>A,c.740G>A,p.S247N |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160604514C>T,c.713C>T,p.T238M |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160604379C>T,c.578C>T,p.T193I |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160604372A>G,c.571A>G,p.M191V |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160602406A>G,c.472A>G,p.M158V |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160599717C>G,c.299C>G,p.T100S |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160599647C>T,c.229C>T,p.R77C |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160599626T>C,c.208T>C,p.S70P |
| MARCH7(NM_022826,membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase,704aa) | g.2:160585568T>C,c.35T>C,p.I12T |
| MARCH6(NM_005885,membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase,910aa) | g.5:10415717T>C,c.2084T>C,p.M695T |
| MARCH6(NM_005885,membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase,910aa) | g.5:10415633C>T,c.2000C>T,p.T667M |
| MARCH4(NM_020814,membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase,410aa) | g.2:217234742G>A,c.242C>T,p.A81V |
| MARCH4(NM_020814,membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase,410aa) | g.2:217142539C>T,c.721G>A,p.A241T |
| MARCH4(NM_020814,membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase,410aa) | g.2:217142512C>T,c.748G>A,p.A250T |