| 基因名 | 突变 |
|---|---|
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10541700C>T,c.3389G>A,p.R1130H |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10541680G>A,c.3409C>T,p.R1137C |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10541674C>T,c.3415G>A,p.D1139N |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10541580G>A,c.3509C>T,p.A1170V |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10541515C>T,c.3574G>A,p.A1192T |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10541497C>T,c.3592G>A,p.A1198T |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10539089G>A,c.3938C>T,p.T1313I |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10538838C>T,c.4018G>A,p.D1340N |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10538192C>T,c.4321G>A,p.A1441T |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10535939C>T,c.4810G>A,p.A1604T |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10535839G>A,c.4910C>T,p.A1637V |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10535216T>C,c.5074A>G,p.T1692A |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10535035T>C,c.5179A>G,p.T1727A |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10534960C>T,c.5254G>A,p.A1752T |
| MYH3(NM_002470,myosin, heavy chain 3, skeletal muscle, embryonic,1940aa) | g.17:10533050T>C,c.5660A>G,p.D1887G |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10451167C>T,c.71G>A,p.R24H |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10451056G>A,c.182C>T,p.T61M |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10442778C>T,c.1249G>A,p.G417S |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10442638C>T,c.1300G>A,p.V434I |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10442604C>T,c.1334G>A,p.R445H |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10436864C>T,c.2266G>A,p.D756N |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10436629A>G,c.2414T>C,p.V805A |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10433181C>T,c.2908G>A,p.V970I |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10432789A>C,c.3127T>G,p.S1043A |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10432735G>C,c.3181C>G,p.L1061V |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10432499T>C,c.3334A>G,p.K1112E |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10432348G>A,c.3403C>T,p.R1135W |
| MYH2(NM_001100112,myosin, heavy chain 2, skeletal muscle, adult,1941aa) | g.17:10432098C>T,c.3653G>A,p.R1218Q |