| 基因名 | 突变 |
|---|---|
| POLR1B(NM_019014,polymerase (RNA) I polypeptide B, 128kDa,1135aa) | g.2:113305101A>G,c.449A>G,p.N150S |
| POLR1B(NM_019014,polymerase (RNA) I polypeptide B, 128kDa,1135aa) | g.2:113300097A>G,c.26A>G,p.N9S |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86317037G>C,c.448C>G,p.P150A |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86317012C>G,c.473G>C,p.R158P |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86305404T>C,c.1090A>G,p.K364E |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86302253C>T,c.1511G>A,p.R504H |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86302184G>A,c.1580C>T,p.T527M |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86292499G>C,c.1956C>G,p.H652Q |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86292479C>T,c.1976G>A,p.R659Q |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86292464T>C,c.1991A>G,p.K664R |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86292416G>A,c.2039C>T,p.P680L |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86281301C>T,c.2170G>A,p.V724I |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86276315T>C,c.2443A>G,p.I815V |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86271396C>T,c.3001G>A,p.V1001M |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86271264C>T,c.3133G>A,p.E1045K |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86269163C>T,c.3421G>A,p.A1141T |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86266521G>A,c.3805C>T,p.L1269F |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86265930C>G,c.3927G>C,p.Q1309H |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86260785C>T,c.4160G>A,p.R1387Q |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86258721C>T,c.4310G>A,p.G1437D |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86258529C>T,c.4502G>A,p.R1501Q |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86255834C>T,c.4780G>A,p.V1594I |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86255795C>T,c.4819G>A,p.A1607T |
| POLR1A(NM_015425,polymerase (RNA) I polypeptide A, 194kDa,1720aa) | g.2:86255790T>C,c.4824A>G,p.I1608M |
| POLQ(NM_199420,polymerase (DNA directed), theta,2590aa) | g.3:121264709G>C,c.16C>G,p.R6G |
| POLQ(NM_199420,polymerase (DNA directed), theta,2590aa) | g.3:121263720C>A,c.197G>T,p.R66I |
| POLQ(NM_199420,polymerase (DNA directed), theta,2590aa) | g.3:121263644C>A,c.273G>T,p.K91N |
| POLQ(NM_199420,polymerase (DNA directed), theta,2590aa) | g.3:121263628C>T,c.289G>A,p.A97T |