| 基因名 | 突变 |
|---|---|
| POLI(NM_007195,polymerase (DNA directed) iota,740aa) | g.18:51795967C>G,c.51C>G,p.D17E |
| POLI(NM_007195,polymerase (DNA directed) iota,740aa) | g.18:51795960A>G,c.44A>G,p.D15G |
| POLI(NM_007195,polymerase (DNA directed) iota,740aa) | g.18:51795958_51795960del,c.42_44del,p.14_15del |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43582176C>A,c.2024C>A,p.S675Y |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43582161A>G,c.2009A>G,p.N670S |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43582091A>T,c.1939A>T,p.M647L |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43582014C>T,c.1862C>T,p.T621I |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43581935A>G,c.1783A>G,p.M595V |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43581903T>C,c.1751T>C,p.L584P |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43581771A>G,c.1619A>G,p.K540R |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43581755A>G,c.1603A>G,p.K535E |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43581585C>T,c.1433C>T,p.T478M |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43578379C>A,c.1163C>A,p.T388N |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43571679T>C,c.815T>C,p.I272T |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43565568G>T,c.626G>T,p.G209V |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43555067C>T,c.331C>T,p.R111C |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43550182G>C,c.126G>C,p.W42C |
| POLH(NM_006502,polymerase (DNA directed), eta,713aa) | g.6:43550096A>G,c.40A>G,p.M14V |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89876861C>T,c.125G>A,p.R42Q |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89876858T>C,c.128A>G,p.Q43R |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89876827_89876828insTGC,c.158_159insGCA,p.53ins1aa |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89876722G>A,c.264C>T,p.F88F |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89876658G>A,c.328C>T,p.H110Y |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89873415G>A,c.752C>T,p.T251I |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89872249C>T,c.948G>A,p.K316K |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89870178C>A,c.1550G>T,p.G517V |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89869955T>C,c.1600A>G,p.S534G |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89868870G>A,c.1760C>T,p.P587L |