| 基因名 | 突变 |
|---|---|
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95093660C>T,c.4574G>A,p.R1525Q |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95093619G>A,c.4615C>T,p.P1539S |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95092992G>C,c.4797C>G,p.N1599K |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95089460C>T,c.4943G>A,p.R1648H |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95085677C>T,c.5177G>A,p.R1726Q |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95085594T>C,c.5260A>G,p.N1754D |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95083040G>A,c.5347C>T,p.R1783W |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95083039C>T,c.5348G>A,p.R1783Q |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95082842C>T,c.5449G>A,p.V1817I |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95079636G>A,c.5591C>T,p.A1864V |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95076545G>A,c.5624C>T,p.T1875M |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95076470C>T,c.5698+1G>A,p.1900Donor |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95072892G>A,c.5774C>T,p.P1925L |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95072787C>T,c.5879G>A,p.R1960H |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95070355C>T,c.5935G>A,p.D1979N |
| MYOD1(NM_002478,myogenic differentiation 1,320aa) | g.11:17742970G>A,c.878G>A,p.S293N |
| MYOD1(NM_002478,myogenic differentiation 1,320aa) | g.11:17741814C>T,c.485C>T,p.A162V |
| MYOD1(NM_002478,myogenic differentiation 1,320aa) | g.11:17741561G>A,c.232G>A,p.D78N |
| MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) | g.1:171621718C>G,c.34G>C,p.G12R |
| MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) | g.1:171621695C>A,c.57G>T,p.Q19H |
| MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) | g.1:171621616G>A,c.136C>T,p.R46X |
| MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) | g.1:171621608C>A,c.144G>T,p.Q48H |
| MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) | g.1:171621594A>G,c.158T>C,p.V53A |
| MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) | g.1:171621525C>T,c.227G>A,p.R76K |
| MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) | g.1:171621481G>A,c.271C>T,p.R91X |
| MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) | g.1:171621376G>A,c.376C>T,p.R126W |
| MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) | g.1:171607856G>A,c.611C>T,p.T204M |
| MYOC(NM_000261,myocilin, trabecular meshwork inducible glucocorticoid response,504aa) | g.1:171607843G>C,c.624C>G,p.D208E |