| 基因名 | 突变 |
|---|---|
| MMRN2(NM_024756,multimerin 2,949aa) | g.10:88702772C>T,c.1769G>A,p.R590H |
| MMRN2(NM_024756,multimerin 2,949aa) | g.10:88702538G>A,c.2003C>T,p.A668V |
| MMRN2(NM_024756,multimerin 2,949aa) | g.10:88702350G>C,c.2191C>G,p.H731D |
| MMRN2(NM_024756,multimerin 2,949aa) | g.10:88702318C>G,c.2223G>C,p.Q741H |
| MMRN2(NM_024756,multimerin 2,949aa) | g.10:88702247T>C,c.2294A>G,p.N765S |
| MMRN2(NM_024756,multimerin 2,949aa) | g.10:88696622C>G,c.2728G>C,p.V910L |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90872881G>A,c.3244G>A,p.E1082K |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90872862C>A,c.3225C>A,p.N1075K |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90857929C>A,c.3098C>A,p.T1033K |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90857722C>G,c.2891C>G,p.T964R |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90857520C>A,c.2689C>A,p.Q897K |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90857518T>A,c.2687T>A,p.L896Q |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90857479G>A,c.2648G>A,p.G883D |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90857244A>G,c.2413A>G,p.T805A |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90856821A>G,c.1990A>G,p.T664A |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90856783C>A,c.1952C>A,p.P651H |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90856465A>T,c.1634A>T,p.Y545F |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90856377G>T,c.1546G>T,p.V516L |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90833193A>G,c.842A>G,p.Q281R |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90833184C>T,c.833C>T,p.P278L |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90830485G>T,c.682G>T,p.V228F |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90830435G>A,c.632G>A,p.C211Y |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90816448T>A,c.326T>A,p.V109E |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90816361A>C,c.239A>C,p.K80T |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90816294A>G,c.172A>G,p.T58A |
| MMRN1(NM_007351,multimerin 1,1228aa) | g.4:90816252G>A,c.130G>A,p.V44I |
| MMP9(NM_004994,matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase),707aa) | g.20:44643111G>A,c.2003G>A,p.R668Q |
| MMP9(NM_004994,matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase),707aa) | g.20:44642436G>T,c.1750+1G>T,p.584Donor |