| 基因名 | 突变 |
|---|---|
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101748889C>A,c.5387C>A,p.A1796E |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101748852A>G,c.5350A>G,p.T1784A |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101748807A>G,c.5305A>G,p.K1769E |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101745845A>G,c.4897A>G,p.T1633A |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101740361C>T,c.4879C>T,p.L1627F |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101738482G>A,c.4559G>A,p.R1520H |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101736240T>C,c.4118T>C,p.I1373T |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101732603T>A,c.3881T>A,p.I1294K |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101711309G>A,c.2606G>A,p.R869K |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101705889A>G,c.2387A>G,p.D796G |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101703604A>G,c.2218A>G,p.I740V |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101703545C>T,c.2159C>T,p.P720L |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101702045G>A,c.2078G>A,p.R693K |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101702005C>T,c.2038C>T,p.R680C |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101693534C>G,c.1505C>G,p.S502C |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101693483C>A,c.1454C>A,p.T485N |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101685647C>T,c.1019C>T,p.T340M |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101685643C>A,c.1015C>A,p.P339T |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101685524C>T,c.896C>T,p.S299L |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101680176C>T,c.404C>T,p.S135L |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101680131T>C,c.359T>C,p.M120T |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101679658G>A,c.325G>A,p.D109N |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101679596T>C,c.263T>C,p.I88T |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101679367T>C,c.146T>C,p.F49S |
| UTP18(NM_016001,UTP18 small subunit (SSU) processome component homolog (yeast),556aa) | g.17:49371294A>G,c.1534A>G,p.N512D |
| UTP18(NM_016001,UTP18 small subunit (SSU) processome component homolog (yeast),556aa) | g.17:49362617G>A,c.1216G>A,p.V406I |
| UTP18(NM_016001,UTP18 small subunit (SSU) processome component homolog (yeast),556aa) | g.17:49338175G>A,c.230G>A,p.R77H |
| UTP18(NM_016001,UTP18 small subunit (SSU) processome component homolog (yeast),556aa) | g.17:49337989C>G,c.44C>G,p.T15S |