| 基因名 | 突变 |
|---|---|
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52664553C>T,c.2585G>A,p.R862H |
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52662388C>T,c.3044G>A,p.R1015Q |
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52659252C>T,c.3136G>A,p.V1046M |
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52643564G>A,c.3736C>T,p.R1246C |
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52635394T>A,c.3960A>T,p.R1320S |
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52611398G>A,c.5018C>T,p.S1673L |
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52611351C>T,c.5065G>A,p.V1689I |
| MYO5A(NM_000259,myosin VA (heavy chain 12, myoxin),1855aa) | g.15:52609253T>C,c.5326A>G,p.T1776A |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171509593T>A,c.3988T>A,p.S1330T |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171375968C>T,c.3493C>T,p.R1165C |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171375963T>C,c.3488T>C,p.V1163A |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171371469G>A,c.3409G>A,p.V1137I |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171356303A>G,c.3274A>G,p.I1092V |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171356274G>A,c.3245G>A,p.R1082K |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171323116G>A,c.2909G>A,p.R970Q |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171323113C>G,c.2906C>G,p.S969C |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171323095G>A,c.2888G>A,p.R963Q |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171323040del,c.2833del,p.945fs |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171319953C>T,c.2806C>T,p.R936W |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171260910G>T,c.2431G>T,p.D811Y |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171260797A>G,c.2318A>G,p.E773G |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171260787G>A,c.2308G>A,p.V770I |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171258164C>T,c.2092C>T,p.R698C |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171258111G>A,c.2039G>A,p.R680Q |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171258106C>A,c.2034C>A,p.D678E |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171256819A>C,c.1913A>C,p.Q638P |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171256771C>T,c.1865C>T,p.S622F |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171243818C>T,c.1577C>T,p.A526V |