| 基因名 | 突变 |
|---|---|
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26446312G>A,c.2867G>A,p.S956N |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26446238G>A,c.2794-1G>A,p.932Acceptor |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26434455G>T,c.2497G>T,p.A833S |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26414420A>T,c.1997A>T,p.N666I |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26385562A>G,c.1727A>G,p.Q576R |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26377331C>T,c.1559C>T,p.A520V |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26377271C>T,c.1499C>T,p.A500V |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26357748G>A,c.1105G>A,p.V369I |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26355992A>G,c.1042A>G,p.I348V |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26355906G>A,c.956G>A,p.R319H |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26310456G>A,c.610G>A,p.D204N |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26305773C>T,c.533C>T,p.T178I |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26286105T>G,c.426T>G,p.H142Q |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26243848C>A,c.214C>A,p.L72I |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26241191T>A,c.152T>A,p.I51N |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26241151G>T,c.112G>T,p.V38L |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109884973C>T,c.3055C>T,p.R1019W |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109883374T>C,c.3002T>C,p.L1001P |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109878621C>T,c.2479C>T,p.R827W |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109878603C>T,c.2461C>T,p.R821C |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109878576G>A,c.2434G>A,p.V812M |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109877573G>A,c.2384G>A,p.R795K |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109877506C>T,c.2317C>T,p.R773W |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109876412C>T,c.2233C>T,p.R745W |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109874319C>T,c.2119C>T,p.R707C |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109872909C>T,c.2083C>T,p.H695Y |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109870742G>A,c.1942G>A,p.G648R |
| MYO1H(NM_001101421,myosin IH,1022aa) | g.12:109853353G>A,c.1477G>A,p.G493S |