| 基因名 | 突变 |
|---|---|
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57431653C>T,c.1961G>A,p.R654Q |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57431402C>T,c.1985G>A,p.G662E |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57431366C>T,c.2021G>A,p.G674D |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57431355T>A,c.2032A>T,p.I678F |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57430138G>A,c.2302C>T,p.R768W |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57430137C>T,c.2303G>A,p.R768Q |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57424918G>A,c.2390C>T,p.S797F |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57424087C>T,c.2498G>A,p.R833Q |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57423224T>C,c.2872A>G,p.S958G |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57423001C>T,c.2920G>A,p.E974K |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57422949G>A,c.2972C>T,p.T991M |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57422934G>A,c.2987C>T,p.T996I |
| MYO1A(NM_001256041,myosin IA,1043aa) | g.12:57422926C>T,c.2995G>A,p.V999M |
| MYO19(NM_001163735,myosin XIX,970aa) | g.17:34884029T>C,c.17A>G,p.N6S |
| MYO19(NM_001163735,myosin XIX,970aa) | g.17:34883438G>C,c.244C>G,p.P82A |
| MYO19(NM_001163735,myosin XIX,970aa) | g.17:34883423G>T,c.259C>A,p.P87T |
| MYO19(NM_001163735,myosin XIX,970aa) | g.17:34881091T>C,c.382A>G,p.I128V |
| MYO19(NM_001163735,myosin XIX,970aa) | g.17:34871802T>C,c.446A>G,p.Y149C |
| MYO19(NM_001163735,myosin XIX,970aa) | g.17:34871721T>C,c.527A>G,p.N176S |
| MYO19(NM_001163735,myosin XIX,970aa) | g.17:34870338C>T,c.671G>A,p.R224Q |
| MYO19(NM_001163735,myosin XIX,970aa) | g.17:34862951C>T,c.1495G>A,p.A499T |
| MYO19(NM_001163735,myosin XIX,970aa) | g.17:34856772G>A,c.2275C>T,p.R759W |
| MYO19(NM_001163735,myosin XIX,970aa) | g.17:34856703G>A,c.2344C>T,p.R782W |
| MYO19(NM_001163735,myosin XIX,970aa) | g.17:34854280G>A,c.2587C>T,p.L863F |
| MYO19(NM_001163735,myosin XIX,970aa) | g.17:34854121C>T,c.2746G>A,p.A916T |
| MYO19(NM_001163735,myosin XIX,970aa) | g.17:34854112G>C,c.2755C>G,p.Q919E |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26423579G>C,c.7639G>C,p.E2547Q |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26423535G>A,c.7595G>A,p.R2532Q |