| 基因名 | 突变 |
|---|---|
| GOLGA6A(NM_001038640,golgin A6 family, member A,693aa) | g.15:74368268C>T,c.623G>A,p.R208Q |
| GOLGA6A(NM_001038640,golgin A6 family, member A,693aa) | g.15:74365137G>A,c.1447C>T,p.H483Y |
| GOLGA6A(NM_001038640,golgin A6 family, member A,693aa) | g.15:74365101C>T,c.1483G>A,p.V495M |
| GOLGA6A(NM_001038640,golgin A6 family, member A,693aa) | g.15:74364639G>C,c.1513C>G,p.Q505E |
| GOLGA6A(NM_001038640,golgin A6 family, member A,693aa) | g.15:74364603G>A,c.1549C>T,p.P517S |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93299684A>G,c.1937A>G,p.N646S |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93299522A>G,c.1775A>G,p.H592R |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93290938G>C,c.1668G>C,p.L556F |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93286137G>A,c.1576G>A,p.A526T |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93277936G>A,c.1157G>A,p.R386H |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93277918A>G,c.1139A>G,p.N380S |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93277899G>A,c.1120G>A,p.E374K |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93276667T>C,c.1061T>C,p.L354P |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93276654T>C,c.1048T>C,p.F350L |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93275714G>A,c.842G>A,p.R281Q |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93273300C>G,c.764C>G,p.T255S |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93264183C>G,c.401C>G,p.P134R |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93264059G>A,c.277G>A,p.E93K |
| GOLGA5(NM_005113,golgin A5,731aa) | g.14:93263982C>G,c.200C>G,p.A67G |
| GOLGA4(NM_002078,golgin A4,2230aa) | g.3:37388713C>G,c.6502C>G,p.L2168V |
| GOLGA4(NM_002078,golgin A4,2230aa) | g.3:37388702C>T,c.6491C>T,p.T2164M |
| GOLGA4(NM_002078,golgin A4,2230aa) | g.3:37381648G>A,c.6430G>A,p.E2144K |
| GOLGA4(NM_002078,golgin A4,2230aa) | g.3:37381634G>A,c.6416G>A,p.R2139H |
| GOLGA4(NM_002078,golgin A4,2230aa) | g.3:37376643C>G,c.6292C>G,p.P2098A |
| GOLGA4(NM_002078,golgin A4,2230aa) | g.3:37376547C>T,c.6196C>T,p.R2066C |
| GOLGA4(NM_002078,golgin A4,2230aa) | g.3:37370566A>T,c.6174A>T,p.R2058S |
| GOLGA4(NM_002078,golgin A4,2230aa) | g.3:37369186C>T,c.5809C>T,p.R1937W |
| GOLGA4(NM_002078,golgin A4,2230aa) | g.3:37368811G>A,c.5434G>A,p.V1812I |