| 基因名 | 突变 |
|---|---|
| POLE(NM_006231,polymerase (DNA directed), epsilon, catalytic subunit,2286aa) | g.12:133201327T>A,c.6817A>T,p.T2273S |
| POLE4(NM_019896,polymerase (DNA-directed), epsilon 4, accessory subunit,117aa) | g.2:75185856G>T,c.50G>T,p.G17V |
| POLE3(NM_017443,polymerase (DNA directed), epsilon 3, accessory subunit,147aa) | g.9:116171154_116171156del,c.379_381del,p.127del |
| POLE2(NM_002692,polymerase (DNA directed), epsilon 2, accessory subunit,527aa) | g.14:50150404T>C,c.76A>G,p.I26V |
| POLE2(NM_002692,polymerase (DNA directed), epsilon 2, accessory subunit,527aa) | g.14:50141083C>T,c.308G>A,p.R103K |
| POLE2(NM_002692,polymerase (DNA directed), epsilon 2, accessory subunit,527aa) | g.14:50136314C>G,c.420G>C,p.R140S |
| POLE2(NM_002692,polymerase (DNA directed), epsilon 2, accessory subunit,527aa) | g.14:50122494G>T,c.823C>A,p.L275I |
| POLE2(NM_002692,polymerase (DNA directed), epsilon 2, accessory subunit,527aa) | g.14:50121507G>C,c.1068C>G,p.H356Q |
| POLE2(NM_002692,polymerase (DNA directed), epsilon 2, accessory subunit,527aa) | g.14:50117066A>G,c.1414T>C,p.Y472H |
| POLDIP3(NM_001278657,polymerase (DNA-directed), delta interacting protein 3,438aa) | g.22:43010821C>T,c.43G>A,p.A15T |
| POLDIP3(NM_001278657,polymerase (DNA-directed), delta interacting protein 3,438aa) | g.22:43010817G>A,c.47C>T,p.A16V |
| POLDIP3(NM_001278657,polymerase (DNA-directed), delta interacting protein 3,438aa) | g.22:42998891C>T,c.335G>A,p.R112H |
| POLDIP3(NM_001278657,polymerase (DNA-directed), delta interacting protein 3,438aa) | g.22:42998007A>G,c.557T>C,p.I186T |
| POLDIP3(NM_001278657,polymerase (DNA-directed), delta interacting protein 3,438aa) | g.22:42997995T>C,c.569A>G,p.N190S |
| POLDIP3(NM_001278657,polymerase (DNA-directed), delta interacting protein 3,438aa) | g.22:42995748T>C,c.640A>G,p.K214E |
| POLDIP3(NM_001278657,polymerase (DNA-directed), delta interacting protein 3,438aa) | g.22:42983560T>C,c.1091A>G,p.N364S |
| POLD4(NM_021173,polymerase (DNA-directed), delta 4, accessory subunit,107aa) | g.11:67120530C>G,c.116G>C,p.R39P |
| POLD4(NM_021173,polymerase (DNA-directed), delta 4, accessory subunit,107aa) | g.11:67119476T>C,c.314A>G,p.Y105C |
| POLD3(NM_006591,polymerase (DNA-directed), delta 3, accessory subunit,466aa) | g.11:74345723G>C,c.1102G>C,p.E368Q |
| POLD3(NM_006591,polymerase (DNA-directed), delta 3, accessory subunit,466aa) | g.11:74336531C>T,c.812C>T,p.T271M |
| POLD3(NM_006591,polymerase (DNA-directed), delta 3, accessory subunit,466aa) | g.11:74336468A>G,c.749A>G,p.N250S |
| POLD3(NM_006591,polymerase (DNA-directed), delta 3, accessory subunit,466aa) | g.11:74329833C>G,c.644C>G,p.A215G |
| POLD2(NM_001256879,polymerase (DNA directed), delta 2, accessory subunit,469aa) | g.7:44157316C>T,c.368G>A,p.R123Q |
| POLD2(NM_001256879,polymerase (DNA directed), delta 2, accessory subunit,469aa) | g.7:44154897G>C,c.1246C>G,p.R416G |
| POLD2(NM_001256879,polymerase (DNA directed), delta 2, accessory subunit,469aa) | g.7:44154466C>T,c.1328G>A,p.R443H |
| POLD1(NM_001256849,polymerase (DNA directed), delta 1, catalytic subunit,1107aa) | g.19:50921127A>C,c.3247A>C,p.K1083Q |
| POLD1(NM_001256849,polymerase (DNA directed), delta 1, catalytic subunit,1107aa) | g.19:50919693C>T,c.2861C>T,p.T954M |
| POLD1(NM_001256849,polymerase (DNA directed), delta 1, catalytic subunit,1107aa) | g.19:50919051G>A,c.2788G>A,p.A930T |