| 基因名 | 突变 |
|---|---|
| POLR3H(NM_001018050,polymerase (RNA) III (DNA directed) polypeptide H (22.9kD),204aa) | g.22:41940075C>T,c.31G>A,p.V11I |
| POLR3H(NM_001018050,polymerase (RNA) III (DNA directed) polypeptide H (22.9kD),204aa) | g.22:41936799C>A,c.112G>T,p.V38F |
| POLR3G(NM_006467,polymerase (RNA) III (DNA directed) polypeptide G (32kD),223aa) | g.5:89807952A>G,c.668A>G,p.Y223C |
| POLR3G(NM_006467,polymerase (RNA) III (DNA directed) polypeptide G (32kD),223aa) | g.5:89802444G>A,c.538G>A,p.D180N |
| POLR3G(NM_006467,polymerase (RNA) III (DNA directed) polypeptide G (32kD),223aa) | g.5:89793502C>T,c.334C>T,p.P112S |
| POLR3G(NM_006467,polymerase (RNA) III (DNA directed) polypeptide G (32kD),223aa) | g.5:89783821C>T,c.122C>T,p.T41I |
| POLR3GL(NM_032305,polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like,218aa) | g.1:145460168C>T,c.55G>A,p.V19M |
| POLR3GL(NM_032305,polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like,218aa) | g.1:145457007T>C,c.554A>G,p.E185G |
| POLR3F(NM_006466,polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa,316aa) | g.20:18462413C>T,c.832C>T,p.P278S |
| POLR3E(NM_018119,polymerase (RNA) III (DNA directed) polypeptide E (80kD),708aa) | g.16:22343448G>A,c.2012G>A,p.R671Q |
| POLR3E(NM_018119,polymerase (RNA) III (DNA directed) polypeptide E (80kD),708aa) | g.16:22337258G>A,c.1525G>A,p.D509N |
| POLR3E(NM_018119,polymerase (RNA) III (DNA directed) polypeptide E (80kD),708aa) | g.16:22337090G>A,c.1357G>A,p.G453R |
| POLR3E(NM_018119,polymerase (RNA) III (DNA directed) polypeptide E (80kD),708aa) | g.16:22334211G>A,c.1027G>A,p.G343S |
| POLR3E(NM_018119,polymerase (RNA) III (DNA directed) polypeptide E (80kD),708aa) | g.16:22330188C>A,c.907C>A,p.P303T |
| POLR3E(NM_018119,polymerase (RNA) III (DNA directed) polypeptide E (80kD),708aa) | g.16:22328486C>T,c.824C>T,p.T275M |
| POLR3E(NM_018119,polymerase (RNA) III (DNA directed) polypeptide E (80kD),708aa) | g.16:22327928C>T,c.649C>T,p.R217C |
| POLR3E(NM_018119,polymerase (RNA) III (DNA directed) polypeptide E (80kD),708aa) | g.16:22320291C>T,c.211C>T,p.R71C |
| POLR3E(NM_018119,polymerase (RNA) III (DNA directed) polypeptide E (80kD),708aa) | g.16:22319518C>T,c.137C>T,p.S46L |
| POLR3E(NM_018119,polymerase (RNA) III (DNA directed) polypeptide E (80kD),708aa) | g.16:22319517T>G,c.136T>G,p.S46A |
| POLR3D(NM_001722,polymerase (RNA) III (DNA directed) polypeptide D, 44kDa,398aa) | g.8:22107944_22107945insG,c.1110_1111insG,p.370fs |
| POLR3D(NM_001722,polymerase (RNA) III (DNA directed) polypeptide D, 44kDa,398aa) | g.8:22106739C>T,c.838C>T,p.P280S |
| POLR3D(NM_001722,polymerase (RNA) III (DNA directed) polypeptide D, 44kDa,398aa) | g.8:22106638C>T,c.737C>T,p.P246L |
| POLR3D(NM_001722,polymerase (RNA) III (DNA directed) polypeptide D, 44kDa,398aa) | g.8:22106028G>A,c.521G>A,p.R174Q |
| POLR3C(NM_006468,polymerase (RNA) III (DNA directed) polypeptide C (62kD),534aa) | g.1:145608635C>T,c.172G>A,p.V58I |
| POLR3C(NM_006468,polymerase (RNA) III (DNA directed) polypeptide C (62kD),534aa) | g.1:145608556C>T,c.251G>A,p.R84Q |
| POLR3C(NM_006468,polymerase (RNA) III (DNA directed) polypeptide C (62kD),534aa) | g.1:145608249G>A,c.448C>T,p.R150X |
| POLR3B(NM_018082,polymerase (RNA) III (DNA directed) polypeptide B,1133aa) | g.12:106890641G>A,c.2929G>A,p.V977I |
| POLR3B(NM_018082,polymerase (RNA) III (DNA directed) polypeptide B,1133aa) | g.12:106890617G>A,c.2905G>A,p.V969M |