| 基因名 | 突变 |
|---|---|
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52536571C>T,c.2372G>A,p.R791Q |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52534310G>A,c.2491C>T,p.R831C |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52532016G>A,c.2617C>T,p.R873C |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52527951T>C,c.2878A>G,p.K960E |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52524828C>T,c.3017G>A,p.R1006Q |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52521383C>T,c.3154G>A,p.V1052I |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52517714C>T,c.3223G>A,p.E1075K |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52515827T>A,c.3541A>T,p.N1181Y |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52515776G>A,c.3592C>T,p.R1198C |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52510750C>T,c.3920G>A,p.R1307Q |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52505468G>A,c.4058C>T,p.S1353L |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52504009C>T,c.4214G>A,p.R1405H |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52503968G>A,c.4255C>T,p.L1419F |
| MYO5C(NM_018728,myosin VC,1742aa) | g.15:52488535C>T,c.4966G>A,p.E1656K |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47721144T>C,c.20A>G,p.Y7C |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47566678C>G,c.145G>C,p.E49Q |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47566647A>G,c.176T>C,p.L59P |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47566640G>C,c.183C>G,p.F61L |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47566626T>G,c.197A>C,p.D66A |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47563299T>C,c.376A>G,p.T126A |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47518708C>T,c.706G>A,p.G236R |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47511148T>C,c.886A>G,p.I296V |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47511113C>A,c.921G>T,p.K307N |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47511108C>T,c.926G>A,p.R309Q |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47506839C>T,c.1031G>A,p.R344H |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47480805C>T,c.1546G>A,p.V516I |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47480747C>T,c.1604G>A,p.S535N |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47480700C>T,c.1651G>A,p.V551I |