| 基因名 | 突变 |
|---|---|
| POLN(NM_181808,polymerase (DNA directed) nu,900aa) | g.4:2097602C>T,c.2041G>A,p.V681M |
| POLN(NM_181808,polymerase (DNA directed) nu,900aa) | g.4:2087370G>A,c.2167C>T,p.R723X |
| POLN(NM_181808,polymerase (DNA directed) nu,900aa) | g.4:2087369C>T,c.2168G>A,p.R723Q |
| POLN(NM_181808,polymerase (DNA directed) nu,900aa) | g.4:2083438G>T,c.2230C>A,p.P744T |
| POLN(NM_181808,polymerase (DNA directed) nu,900aa) | g.4:2083359C>T,c.2308+1G>A,p.770Donor |
| POLN(NM_181808,polymerase (DNA directed) nu,900aa) | g.4:2074703del,c.2509del,p.837fs |
| POLN(NM_181808,polymerase (DNA directed) nu,900aa) | g.4:2073996G>A,c.2548C>T,p.R850C |
| POLN(NM_181808,polymerase (DNA directed) nu,900aa) | g.4:2073901del,c.2643del,p.881fs |
| POLN(NM_181808,polymerase (DNA directed) nu,900aa) | g.4:2073874_2073875insG,c.2669_2670insC,p.890fs |
| POLM(NM_013284,polymerase (DNA directed), mu,494aa) | g.7:44121970G>A,c.68C>T,p.P23L |
| POLM(NM_013284,polymerase (DNA directed), mu,494aa) | g.7:44120507G>A,c.197C>T,p.A66V |
| POLM(NM_013284,polymerase (DNA directed), mu,494aa) | g.7:44120340G>A,c.364C>T,p.R122C |
| POLM(NM_013284,polymerase (DNA directed), mu,494aa) | g.7:44118394C>G,c.659G>C,p.G220A |
| POLM(NM_013284,polymerase (DNA directed), mu,494aa) | g.7:44116207C>A,c.736G>T,p.V246F |
| POLM(NM_013284,polymerase (DNA directed), mu,494aa) | g.7:44116185C>T,c.758G>A,p.R253Q |
| POLM(NM_013284,polymerase (DNA directed), mu,494aa) | g.7:44116110G>A,c.833C>T,p.A278V |
| POLM(NM_013284,polymerase (DNA directed), mu,494aa) | g.7:44113743C>T,c.1058G>A,p.R353H |
| POLM(NM_013284,polymerase (DNA directed), mu,494aa) | g.7:44113453C>T,c.1243G>A,p.V415M |
| POLM(NM_013284,polymerase (DNA directed), mu,494aa) | g.7:44113452A>C,c.1244T>G,p.V415G |
| POLM(NM_013284,polymerase (DNA directed), mu,494aa) | g.7:44113399C>T,c.1297G>A,p.G433S |
| POLM(NM_013284,polymerase (DNA directed), mu,494aa) | g.7:44113235C>T,c.1387G>A,p.D463N |
| POLM(NM_013284,polymerase (DNA directed), mu,494aa) | g.7:44113231G>C,c.1391C>G,p.P464R |
| POLL(NM_001174084,polymerase (DNA directed), lambda,575aa) | g.10:103345860G>A,c.169C>T,p.R57W |
| POLL(NM_001174084,polymerase (DNA directed), lambda,575aa) | g.10:103344589T>G,c.661A>C,p.T221P |
| POLL(NM_001174084,polymerase (DNA directed), lambda,575aa) | g.10:103343423G>A,c.907C>T,p.P303S |
| POLL(NM_001174084,polymerase (DNA directed), lambda,575aa) | g.10:103343408G>A,c.922C>T,p.R308W |
| POLL(NM_001174084,polymerase (DNA directed), lambda,575aa) | g.10:103340100G>A,c.1268C>T,p.A423V |
| POLL(NM_001174084,polymerase (DNA directed), lambda,575aa) | g.10:103340056G>A,c.1312C>T,p.R438W |