| 基因名 | 突变 |
|---|---|
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3845341G>A,c.1064G>A,p.R355H |
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3845280G>A,c.1003G>A,p.A335T |
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3845179C>T,c.902C>T,p.T301I |
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3844929C>T,c.652C>T,p.R218C |
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3844906C>T,c.629C>T,p.A210V |
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3843027C>A,c.592C>A,p.Q198K |
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3842923C>T,c.488C>T,p.T163M |
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3838441C>G,c.277C>G,p.Q93E |
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3838400G>T,c.236G>T,p.C79F |
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3838399T>A,c.235T>A,p.C79S |
| MAVS(NM_020746,mitochondrial antiviral signaling protein,540aa) | g.20:3838357C>T,c.193C>T,p.R65W |
| MAU2(NM_015329,MAU2 sister chromatid cohesion factor,613aa) | g.19:19447991G>T,c.373G>T,p.A125S |
| MATR3(NM_199189,matrin 3,847aa) | g.5:138665044A>G,c.2504A>G,p.N835S |
| MATR3(NM_199189,matrin 3,847aa) | g.5:138661340A>G,c.2360A>G,p.N787S |
| MATR3(NM_199189,matrin 3,847aa) | g.5:138661298A>G,c.2318A>G,p.Y773C |
| MATR3(NM_199189,matrin 3,847aa) | g.5:138661298A>C,c.2318A>C,p.Y773S |
| MATR3(NM_199189,matrin 3,847aa) | g.5:138658499A>C,c.1991A>C,p.E664A |
| MATR3(NM_199189,matrin 3,847aa) | g.5:138652744G>A,c.1132G>A,p.A378T |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43933416G>A,c.95C>T,p.P32L |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43933399C>G,c.112G>C,p.V38L |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43933339T>C,c.172A>G,p.M58V |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43933156A>G,c.355T>C,p.Y119H |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43933144C>T,c.367G>A,p.V123M |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43933021G>T,c.490C>A,p.R164S |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43930062C>T,c.665G>A,p.G222E |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43930036C>A,c.691G>T,p.V231F |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43929560G>A,c.979C>T,p.R327W |
| MATN4(NM_003833,matrilin 4,581aa) | g.20:43929527G>A,c.1012C>T,p.R338W |