| 基因名 | 突变 |
|---|---|
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10358321C>T,c.2372G>A,p.R791H |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10357915G>A,c.2648C>T,p.T883M |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10357021A>G,c.2873T>C,p.I958T |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10356645C>T,c.2935G>A,p.V979M |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10356500G>A,c.3080C>T,p.A1027V |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10355763T>C,c.3318A>G,p.I1106M |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10355732C>A,c.3348+1G>T,p.1116Donor |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10355504C>A,c.3492G>T,p.Q1164H |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10355421G>A,c.3575C>T,p.T1192M |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10355371C>T,c.3625G>A,p.E1209K |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10354747C>T,c.3761G>A,p.R1254H |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10354727T>G,c.3781A>C,p.S1261R |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10354675G>A,c.3833C>T,p.S1278L |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10354661G>A,c.3847C>T,p.R1283C |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10352347C>T,c.4199G>A,p.R1400H |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10352233C>T,c.4313G>A,p.R1438Q |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10351410G>A,c.4690C>T,p.R1564C |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10351409C>T,c.4691G>A,p.R1564H |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10350508G>A,c.4991C>T,p.A1664V |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10350406C>T,c.5093G>A,p.R1698Q |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10348604C>T,c.5245G>A,p.V1749I |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10348375T>C,c.5384A>G,p.K1795R |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10348354T>C,c.5405A>G,p.D1802G |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10348150G>A,c.5533C>T,p.R1845C |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10346781T>C,c.5731A>G,p.K1911E |
| MYH4(NM_017533,myosin, heavy chain 4, skeletal muscle,1939aa) | g.17:10346774C>T,c.5738G>A,p.R1913Q |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10554922C>T,c.412G>A,p.E138K |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10542709G>A,c.3008C>T,p.A1003V |