| 基因名 | 突变 |
|---|---|
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59430501G>T,c.3146C>A,p.P1049H |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59430423T>C,c.3224A>G,p.N1075S |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59429637G>A,c.3269C>T,p.T1090M |
| MYO1D(NM_015194,myosin ID,1006aa) | g.17:31098160C>G,c.697G>C,p.V233L |
| MYO1D(NM_015194,myosin ID,1006aa) | g.17:31087542C>A,c.1139G>T,p.G380V |
| MYO1D(NM_015194,myosin ID,1006aa) | g.17:31087331G>A,c.1273C>T,p.R425W |
| MYO1D(NM_015194,myosin ID,1006aa) | g.17:31082572C>T,c.1405G>A,p.E469K |
| MYO1D(NM_015194,myosin ID,1006aa) | g.17:31075961C>T,c.1531G>A,p.D511N |
| MYO1D(NM_015194,myosin ID,1006aa) | g.17:31039046C>T,c.2081G>A,p.R694H |
| MYO1D(NM_015194,myosin ID,1006aa) | g.17:30986254C>T,c.2224G>A,p.E742K |
| MYO1D(NM_015194,myosin ID,1006aa) | g.17:30986185G>A,c.2293C>T,p.P765S |
| MYO1D(NM_015194,myosin ID,1006aa) | g.17:30986166C>T,c.2312G>A,p.R771H |
| MYO1D(NM_015194,myosin ID,1006aa) | g.17:30980871T>A,c.2585A>T,p.H862L |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1387557G>A,c.116C>T,p.A39V |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1386304C>T,c.397G>A,p.D133N |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1386183C>T,c.518G>A,p.R173Q |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1386153A>C,c.546+2T>G,p.182Donor |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1385828G>A,c.571C>T,p.R191W |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1384031C>T,c.776G>A,p.R259Q |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1383868C>T,c.859G>A,p.V287I |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1383835C>T,c.892G>A,p.E298K |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1381783C>T,c.1216G>A,p.V406M |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1381765G>A,c.1234C>T,p.R412W |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1381758G>A,c.1241C>T,p.T414I |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1381434T>C,c.1348A>G,p.I450V |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1378285C>T,c.1616G>A,p.R539Q |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1378274G>A,c.1627C>T,p.R543C |
| MYO1C(NM_001080779,myosin IC,1063aa) | g.17:1378120G>A,c.1702C>T,p.R568W |