| 基因名 | 突变 |
|---|---|
| MUT(NM_000255,methylmalonyl CoA mutase,750aa) | g.6:49412433C>T,c.1595G>A,p.R532H |
| MUT(NM_000255,methylmalonyl CoA mutase,750aa) | g.6:49403302G>A,c.1991C>T,p.A664V |
| MUT(NM_000255,methylmalonyl CoA mutase,750aa) | g.6:49403282T>C,c.2011A>G,p.I671V |
| MUSTN1(NM_205853,musculoskeletal, embryonic nuclear protein 1,82aa) | g.3:52867744T>A,c.31A>T,p.I11F |
| MUSTN1(NM_205853,musculoskeletal, embryonic nuclear protein 1,82aa) | g.3:52867715G>C,c.60C>G,p.D20E |
| MUSTN1(NM_205853,musculoskeletal, embryonic nuclear protein 1,82aa) | g.3:52867696G>A,c.79C>T,p.R27X |
| MUSTN1(NM_205853,musculoskeletal, embryonic nuclear protein 1,82aa) | g.3:52867434G>A,c.155C>T,p.S52L |
| MUSTN1(NM_205853,musculoskeletal, embryonic nuclear protein 1,82aa) | g.3:52867393C>T,c.196G>A,p.E66K |
| MUSTN1(NM_205853,musculoskeletal, embryonic nuclear protein 1,82aa) | g.3:52867366C>T,c.223G>A,p.G75R |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113563257G>T,c.2599G>T,p.V867L |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113563231G>A,c.2573G>A,p.R858H |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113563143G>T,c.2485G>T,p.V829L |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113563051A>G,c.2393A>G,p.Y798C |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113563004G>T,c.2346G>T,p.E782D |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113562958G>A,c.2300G>A,p.R767H |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113562945G>A,c.2287G>A,p.A763T |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113562649A>G,c.1991A>G,p.N664S |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113562609A>C,c.1951A>C,p.M651L |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113562589T>C,c.1931T>C,p.V644A |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113550076C>T,c.1885C>T,p.L629F |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113538160T>C,c.1277T>C,p.M426T |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113538122G>A,c.1239G>A,p.M413I |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113530240C>T,c.1061C>T,p.T354M |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113530204C>T,c.1025C>T,p.A342V |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113530131G>A,c.952G>A,p.A318T |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113530108A>C,c.929A>C,p.Q310P |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113457799A>G,c.475A>G,p.S159G |
| MUSK(NM_005592,muscle, skeletal, receptor tyrosine kinase,869aa) | g.9:113457722T>C,c.398T>C,p.I133T |