| 基因名 | 突变 |
|---|---|
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89867387C>T,c.2021G>A,p.G674D |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89867357T>C,c.2051A>G,p.N684S |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89867339G>A,c.2069C>T,p.T690M |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89866735C>T,c.2165G>A,p.R722H |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89866676C>T,c.2224G>A,p.V742M |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89865073T>C,c.2492A>G,p.Y831C |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89865008G>A,c.2557C>T,p.R853W |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89864088G>A,c.2890C>T,p.R964C |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89862304A>G,c.3131T>C,p.V1044A |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89861826T>C,c.3428A>G,p.E1143G |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89860691G>A,c.3559C>T,p.R1187W |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89860052G>A,c.3650C>T,p.A1217V |
| POLG(NM_002693,polymerase (DNA directed), gamma,1239aa) | g.15:89859994C>A,c.3708G>T,p.Q1236H |
| POLG2(NM_007215,polymerase (DNA directed), gamma 2, accessory subunit,485aa) | g.17:62493007G>A,c.80C>T,p.A27V |
| POLG2(NM_007215,polymerase (DNA directed), gamma 2, accessory subunit,485aa) | g.17:62492582C>T,c.505G>A,p.A169T |
| POLG2(NM_007215,polymerase (DNA directed), gamma 2, accessory subunit,485aa) | g.17:62488885C>T,c.694G>A,p.G232S |
| POLG2(NM_007215,polymerase (DNA directed), gamma 2, accessory subunit,485aa) | g.17:62488876T>C,c.703A>G,p.T235A |
| POLG2(NM_007215,polymerase (DNA directed), gamma 2, accessory subunit,485aa) | g.17:62481850T>C,c.1105A>G,p.R369G |
| POLG2(NM_007215,polymerase (DNA directed), gamma 2, accessory subunit,485aa) | g.17:62479069A>C,c.1158T>G,p.D386E |
| POLG2(NM_007215,polymerase (DNA directed), gamma 2, accessory subunit,485aa) | g.17:62476451C>G,c.1247G>C,p.G416A |
| POLG2(NM_007215,polymerase (DNA directed), gamma 2, accessory subunit,485aa) | g.17:62476416G>A,c.1282C>T,p.L428F |
| POLE(NM_006231,polymerase (DNA directed), epsilon, catalytic subunit,2286aa) | g.12:133263886C>G,c.16G>C,p.G6R |
| POLE(NM_006231,polymerase (DNA directed), epsilon, catalytic subunit,2286aa) | g.12:133257837C>A,c.91G>T,p.A31S |
| POLE(NM_006231,polymerase (DNA directed), epsilon, catalytic subunit,2286aa) | g.12:133257789G>A,c.139C>T,p.R47W |
| POLE(NM_006231,polymerase (DNA directed), epsilon, catalytic subunit,2286aa) | g.12:133254282A>G,c.602T>C,p.I201T |
| POLE(NM_006231,polymerase (DNA directed), epsilon, catalytic subunit,2286aa) | g.12:133253995G>A,c.755C>T,p.A252V |
| POLE(NM_006231,polymerase (DNA directed), epsilon, catalytic subunit,2286aa) | g.12:133253974C>T,c.776G>A,p.R259H |
| POLE(NM_006231,polymerase (DNA directed), epsilon, catalytic subunit,2286aa) | g.12:133253971C>T,c.779G>A,p.R260Q |