| 基因名 | 突变 |
|---|---|
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47462667T>C,c.1958A>G,p.H653R |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47462641C>T,c.1984G>A,p.D662N |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47432975C>T,c.2228G>A,p.R743H |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47432876C>T,c.2327G>A,p.R776Q |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47432860C>G,c.2343G>C,p.K781N |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47431128G>A,c.2485C>T,p.R829C |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47429164C>T,c.2611G>A,p.V871M |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47429073C>T,c.2702G>A,p.R901Q |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47429022C>T,c.2753G>A,p.R918H |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47421508C>T,c.2848G>A,p.V950M |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47406785T>A,c.3086A>T,p.D1029V |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47405425T>G,c.3166A>C,p.M1056L |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47405425_47405426insGAG,c.3165_3166insCTC,p.1055_1056ins1aa |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47383243C>T,c.3962G>A,p.G1321E |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47379895G>A,c.4145C>T,p.T1382M |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47373530C>T,c.4445G>A,p.R1482Q |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47369724G>T,c.4498C>A,p.L1500I |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47367799G>A,c.4637C>T,p.T1546M |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47367762G>C,c.4674C>G,p.H1558Q |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47363963T>C,c.5062A>G,p.M1688V |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47361739G>A,c.5369C>T,p.T1790I |
| MYO5B(NM_001080467,myosin VB,1848aa) | g.18:47352872C>A,c.5516G>T,p.C1839F |
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52689631T>G,c.1086A>C,p.E362D |
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52689516C>T,c.1201G>A,p.D401N |
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52676447G>A,c.1825C>T,p.R609C |
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52676392A>G,c.1880T>C,p.M627T |
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52668659C>A,c.2305G>T,p.A769S |
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52667587G>A,c.2491C>T,p.R831C |