| 基因名 | 突变 |
|---|---|
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10430362G>A,c.3883C>T,p.R1295C |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10430096G>T,c.4007C>A,p.A1336E |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10429123G>A,c.4258C>T,p.L1420F |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10428620C>T,c.4583G>A,p.R1528H |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10428348C>T,c.4697G>A,p.R1566H |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10428271G>T,c.4774C>A,p.L1592M |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10428127G>A,c.4918C>T,p.R1640C |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10427955C>T,c.5003G>A,p.R1668Q |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10427913C>T,c.5045G>A,p.R1682H |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10426501G>A,c.5579C>T,p.T1860M |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10426473C>G,c.5607G>C,p.R1869S |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10424643C>T,c.5780G>A,p.R1927Q |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10419907C>T,c.53G>A,p.R18Q |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10419890G>A,c.70C>T,p.R24X |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10417137C>T,c.741+1G>A,p.247Donor |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10415269A>G,c.1303T>C,p.Y435H |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10415193A>G,c.1379T>C,p.I460T |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10412863A>G,c.1526T>C,p.I509T |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10409394G>A,c.1991C>T,p.T664I |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10409241T>C,c.2062A>G,p.M688V |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10409193C>T,c.2110G>A,p.E704K |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10408772T>G,c.2231A>C,p.K744T |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10408380T>A,c.2438A>T,p.E813V |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10408175C>G,c.2643G>C,p.M881I |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10406189T>C,c.2977A>G,p.I993V |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10404809A>G,c.3356T>C,p.I1119T |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10404653C>T,c.3512G>A,p.R1171Q |
| MYH1(NM_005963,myosin, heavy chain 1, skeletal muscle, adult,1939aa) | g.17:10403994G>A,c.3814C>T,p.R1272W |