| 基因名 | 突变 |
|---|---|
| QSOX2(NM_181701,quiescin Q6 sulfhydryl oxidase 2,698aa) | g.9:139103220C>G,c.1439G>C,p.G480A |
| QSOX2(NM_181701,quiescin Q6 sulfhydryl oxidase 2,698aa) | g.9:139101101G>A,c.1570C>T,p.R524W |
| QSOX2(NM_181701,quiescin Q6 sulfhydryl oxidase 2,698aa) | g.9:139100923G>A,c.1748C>T,p.T583I |
| QSOX2(NM_181701,quiescin Q6 sulfhydryl oxidase 2,698aa) | g.9:139100882G>T,c.1789C>A,p.P597T |
| QSOX2(NM_181701,quiescin Q6 sulfhydryl oxidase 2,698aa) | g.9:139100861G>A,c.1810C>T,p.R604X |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180165955A>G,c.2027A>G,p.K676R |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180165814A>G,c.1886A>G,p.Q629R |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180165718C>T,c.1790C>T,p.P597L |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180165699A>C,c.1771A>C,p.N591H |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180165583G>A,c.1655G>A,p.R552Q |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180165582C>T,c.1654C>T,p.R552W |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180163476G>A,c.1417G>A,p.A473T |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180163390A>G,c.1331A>G,p.H444R |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180159686G>A,c.1259G>A,p.R420Q |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180159679G>A,c.1252G>A,p.A418T |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180159622C>T,c.1195C>T,p.H399Y |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180155276C>T,c.976C>T,p.R326C |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180153178G>T,c.880G>T,p.A294S |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180151349G>A,c.647G>A,p.R216H |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180151339G>A,c.637G>A,p.V213M |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180148012G>C,c.599G>C,p.G200A |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180145132C>T,c.479C>T,p.T160M |
| QSOX1(NM_002826,quiescin Q6 sulfhydryl oxidase 1,747aa) | g.1:180124061G>C,c.19G>C,p.G7R |
| QSER1(NM_001076786,glutamine and serine rich 1,1735aa) | g.11:32987860G>A,c.4597G>A,p.A1533T |
| QSER1(NM_001076786,glutamine and serine rich 1,1735aa) | g.11:32979497G>A,c.4447G>A,p.V1483M |
| QSER1(NM_001076786,glutamine and serine rich 1,1735aa) | g.11:32975522A>G,c.3910A>G,p.N1304D |
| QSER1(NM_001076786,glutamine and serine rich 1,1735aa) | g.11:32956492C>T,c.3301C>T,p.R1101C |
| QSER1(NM_001076786,glutamine and serine rich 1,1735aa) | g.11:32956244A>G,c.3053A>G,p.N1018S |