| 基因名 | 突变 |
|---|---|
| POLR2E(NM_002695,polymerase (RNA) II (DNA directed) polypeptide E, 25kDa,210aa) | g.19:1091811T>C,c.328A>G,p.M110V |
| POLR2B(NM_000938,polymerase (RNA) II (DNA directed) polypeptide B, 140kDa,1174aa) | g.4:57860862G>T,c.406G>T,p.G136C |
| POLR2B(NM_000938,polymerase (RNA) II (DNA directed) polypeptide B, 140kDa,1174aa) | g.4:57860577A>G,c.251A>G,p.Y84C |
| POLR2A(NM_000937,polymerase (RNA) II (DNA directed) polypeptide A, 220kDa,1970aa) | g.17:7417086G>A,c.5503G>A,p.A1835T |
| POLR2A(NM_000937,polymerase (RNA) II (DNA directed) polypeptide A, 220kDa,1970aa) | g.17:7412336A>G,c.3539A>G,p.N1180S |
| POLR1E(NM_022490,polymerase (RNA) I polypeptide E, 53kDa,419aa) | g.9:37503186G>A,c.1247G>A,p.R416K |
| POLR1E(NM_022490,polymerase (RNA) I polypeptide E, 53kDa,419aa) | g.9:37503144C>T,c.1205C>T,p.P402L |
| POLR1E(NM_022490,polymerase (RNA) I polypeptide E, 53kDa,419aa) | g.9:37503087G>A,c.1148G>A,p.R383K |
| POLR1E(NM_022490,polymerase (RNA) I polypeptide E, 53kDa,419aa) | g.9:37501807G>A,c.1066G>A,p.V356M |
| POLR1E(NM_022490,polymerase (RNA) I polypeptide E, 53kDa,419aa) | g.9:37501735A>G,c.994A>G,p.M332V |
| POLR1E(NM_022490,polymerase (RNA) I polypeptide E, 53kDa,419aa) | g.9:37495983G>A,c.752G>A,p.S251N |
| POLR1E(NM_022490,polymerase (RNA) I polypeptide E, 53kDa,419aa) | g.9:37495899C>T,c.668C>T,p.A223V |
| POLR1E(NM_022490,polymerase (RNA) I polypeptide E, 53kDa,419aa) | g.9:37495255G>A,c.637G>A,p.V213M |
| POLR1E(NM_022490,polymerase (RNA) I polypeptide E, 53kDa,419aa) | g.9:37495192G>C,c.574G>C,p.D192H |
| POLR1E(NM_022490,polymerase (RNA) I polypeptide E, 53kDa,419aa) | g.9:37492665G>A,c.355G>A,p.E119K |
| POLR1D(NM_001206559,polymerase (RNA) I polypeptide D, 16kDa,94aa) | g.13:28240085C>T,c.280C>T,p.R94W |
| POLR1D(NM_001206559,polymerase (RNA) I polypeptide D, 16kDa,94aa) | g.13:28239999A>G,c.194A>G,p.H65R |
| POLR1C(NM_203290,polymerase (RNA) I polypeptide C, 30kDa,346aa) | g.6:43488144A>G,c.634A>G,p.M212V |
| POLR1C(NM_203290,polymerase (RNA) I polypeptide C, 30kDa,346aa) | g.6:43487816G>A,c.395G>A,p.G132D |
| POLR1C(NM_203290,polymerase (RNA) I polypeptide C, 30kDa,346aa) | g.6:43487122A>G,c.193A>G,p.M65V |
| POLR1C(NM_203290,polymerase (RNA) I polypeptide C, 30kDa,346aa) | g.6:43485090C>T,c.116C>T,p.A39V |
| POLR1C(NM_203290,polymerase (RNA) I polypeptide C, 30kDa,346aa) | g.6:43484912G>A,c.65G>A,p.R22H |
| POLR1B(NM_019014,polymerase (RNA) I polypeptide B, 128kDa,1135aa) | g.2:113333296A>G,c.3398A>G,p.D1133G |
| POLR1B(NM_019014,polymerase (RNA) I polypeptide B, 128kDa,1135aa) | g.2:113322066G>A,c.1736G>A,p.R579H |
| POLR1B(NM_019014,polymerase (RNA) I polypeptide B, 128kDa,1135aa) | g.2:113322045C>T,c.1715C>T,p.P572L |
| POLR1B(NM_019014,polymerase (RNA) I polypeptide B, 128kDa,1135aa) | g.2:113310284C>T,c.1049C>T,p.T350M |
| POLR1B(NM_019014,polymerase (RNA) I polypeptide B, 128kDa,1135aa) | g.2:113309560C>T,c.971C>T,p.A324V |
| POLR1B(NM_019014,polymerase (RNA) I polypeptide B, 128kDa,1135aa) | g.2:113309473C>T,c.884C>T,p.S295L |