| 基因名 | 突变 |
|---|---|
| MYH8(NM_002472,myosin, heavy chain 8, skeletal muscle, perinatal,1937aa) | g.17:10302965G>A,c.3757C>T,p.R1253C |
| MYH8(NM_002472,myosin, heavy chain 8, skeletal muscle, perinatal,1937aa) | g.17:10302192G>A,c.3874C>T,p.R1292X |
| MYH8(NM_002472,myosin, heavy chain 8, skeletal muscle, perinatal,1937aa) | g.17:10301805G>C,c.4134C>G,p.Y1378X |
| MYH8(NM_002472,myosin, heavy chain 8, skeletal muscle, perinatal,1937aa) | g.17:10298674C>T,c.4738G>A,p.A1580T |
| MYH8(NM_002472,myosin, heavy chain 8, skeletal muscle, perinatal,1937aa) | g.17:10298628C>G,c.4784G>C,p.R1595T |
| MYH8(NM_002472,myosin, heavy chain 8, skeletal muscle, perinatal,1937aa) | g.17:10298599C>T,c.4813G>A,p.D1605N |
| MYH8(NM_002472,myosin, heavy chain 8, skeletal muscle, perinatal,1937aa) | g.17:10297696C>T,c.5036G>A,p.R1679H |
| MYH8(NM_002472,myosin, heavy chain 8, skeletal muscle, perinatal,1937aa) | g.17:10297658A>G,c.5074T>C,p.W1692R |
| MYH8(NM_002472,myosin, heavy chain 8, skeletal muscle, perinatal,1937aa) | g.17:10296261G>C,c.5350C>G,p.R1784G |
| MYH8(NM_002472,myosin, heavy chain 8, skeletal muscle, perinatal,1937aa) | g.17:10296260C>T,c.5351G>A,p.R1784Q |
| MYH8(NM_002472,myosin, heavy chain 8, skeletal muscle, perinatal,1937aa) | g.17:10296176T>C,c.5435A>G,p.K1812R |
| MYH8(NM_002472,myosin, heavy chain 8, skeletal muscle, perinatal,1937aa) | g.17:10295914T>G,c.5513A>C,p.E1838A |
| MYH8(NM_002472,myosin, heavy chain 8, skeletal muscle, perinatal,1937aa) | g.17:10295889A>T,c.5538T>A,p.H1846Q |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23902865G>A,c.77C>T,p.A26V |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23898249G>A,c.1322C>T,p.T441M |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23895007G>A,c.2183C>T,p.A728V |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23894554C>T,c.2360G>A,p.R787H |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23894084C>T,c.2573G>A,p.R858H |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23894051C>T,c.2606G>A,p.R869H |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23892910A>G,c.2945T>C,p.M982T |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23891481C>T,c.3153G>A,p.A1051A |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23890217C>A,c.3286G>T,p.D1096Y |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23889445_23889446insG,c.3337-2insC,p.1113Acceptorins |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23888744C>G,c.3801G>C,p.Q1267H |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23887606C>T,c.3982G>A,p.A1328T |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23887578C>T,c.4010G>A,p.R1337Q |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23887510C>T,c.4078G>A,p.V1360I |
| MYH7(NM_000257,myosin, heavy chain 7, cardiac muscle, beta,1935aa) | g.14:23886855C>T,c.4210G>A,p.V1404M |