| 基因名 | 突变 |
|---|---|
| MYH14(NM_001145809,myosin, heavy chain 14, non-muscle,2036aa) | g.19:50747534G>T,c.1150G>T,p.G384C |
| MYH14(NM_001145809,myosin, heavy chain 14, non-muscle,2036aa) | g.19:50747517C>T,c.1133C>T,p.S378L |
| MYH14(NM_001145809,myosin, heavy chain 14, non-muscle,2036aa) | g.19:50735280C>T,c.1067C>T,p.T356M |
| MYH14(NM_001145809,myosin, heavy chain 14, non-muscle,2036aa) | g.19:50730169A>G,c.820A>G,p.I274V |
| MYH14(NM_001145809,myosin, heavy chain 14, non-muscle,2036aa) | g.19:50726342C>T,c.565C>T,p.R189C |
| MYH14(NM_001145809,myosin, heavy chain 14, non-muscle,2036aa) | g.19:50720992G>A,c.526G>A,p.A176T |
| MYH14(NM_001145809,myosin, heavy chain 14, non-muscle,2036aa) | g.19:50720949G>A,c.483G>A,p.M161I |
| MYH14(NM_001145809,myosin, heavy chain 14, non-muscle,2036aa) | g.19:50714016G>A,c.394G>A,p.G132S |
| MYH14(NM_001145809,myosin, heavy chain 14, non-muscle,2036aa) | g.19:50713885G>A,c.263G>A,p.R88Q |
| MYH14(NM_001145809,myosin, heavy chain 14, non-muscle,2036aa) | g.19:50713713C>A,c.91C>A,p.P31T |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10267699C>A,c.149G>T,p.G50V |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10265714T>C,c.311A>G,p.Y104C |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10265700G>A,c.325C>T,p.R109C |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10265676C>T,c.348+1G>A,p.116Donor |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10263327T>C,c.595A>G,p.I199V |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10248876T>G,c.1321A>C,p.M441L |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10248866C>T,c.1331G>A,p.R444H |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10248614C>T,c.1489G>A,p.V497M |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10247134T>C,c.1877A>G,p.Y626C |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10236464C>T,c.2101G>A,p.G701R |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10236451C>T,c.2114G>A,p.G705D |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10235525T>C,c.2189A>G,p.N730S |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10231335C>T,c.2539G>A,p.A847T |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10231268C>T,c.2606G>A,p.R869Q |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10224960C>G,c.3000G>C,p.K1000N |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10223714T>C,c.3211A>G,p.M1071V |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10223697G>T,c.3228C>A,p.D1076E |
| MYH13(NM_003802,myosin, heavy chain 13, skeletal muscle,1938aa) | g.17:10223550C>G,c.3268G>C,p.E1090Q |