| 基因名 | 突变 |
|---|---|
| UTP6(NM_018428,UTP6, small subunit (SSU) processome component, homolog (yeast),597aa) | g.17:30222002T>C,c.206A>G,p.Q69R |
| UTP6(NM_018428,UTP6, small subunit (SSU) processome component, homolog (yeast),597aa) | g.17:30219303A>C,c.400T>G,p.L134V |
| UTP6(NM_018428,UTP6, small subunit (SSU) processome component, homolog (yeast),597aa) | g.17:30216384G>C,c.463C>G,p.R155G |
| UTP6(NM_018428,UTP6, small subunit (SSU) processome component, homolog (yeast),597aa) | g.17:30216366C>T,c.481G>A,p.A161T |
| UTP6(NM_018428,UTP6, small subunit (SSU) processome component, homolog (yeast),597aa) | g.17:30216339G>A,c.508C>T,p.R170C |
| UTP6(NM_018428,UTP6, small subunit (SSU) processome component, homolog (yeast),597aa) | g.17:30213044C>T,c.658G>A,p.E220K |
| UTP6(NM_018428,UTP6, small subunit (SSU) processome component, homolog (yeast),597aa) | g.17:30190401T>C,c.1771A>G,p.M591V |
| UTP3(NM_020368,UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae),479aa) | g.4:71555623C>T,c.1229C>T,p.A410V |
| UTP3(NM_020368,UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae),479aa) | g.4:71555598C>A,c.1204C>A,p.L402I |
| UTP3(NM_020368,UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae),479aa) | g.4:71555507T>A,c.1113T>A,p.D371E |
| UTP3(NM_020368,UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae),479aa) | g.4:71555361C>T,c.967C>T,p.R323C |
| UTP3(NM_020368,UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae),479aa) | g.4:71554974C>T,c.580C>T,p.P194S |
| UTP23(NM_032334,UTP23, small subunit (SSU) processome component, homolog (yeast),249aa) | g.8:117783975C>T,c.644C>T,p.P215L |
| UTP23(NM_032334,UTP23, small subunit (SSU) processome component, homolog (yeast),249aa) | g.8:117783914A>C,c.583A>C,p.K195Q |
| UTP23(NM_032334,UTP23, small subunit (SSU) processome component, homolog (yeast),249aa) | g.8:117783858A>G,c.527A>G,p.K176R |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101779837G>A,c.8294G>A,p.R2765H |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101779483C>T,c.8179C>T,p.R2727W |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101777351G>A,c.7960G>A,p.V2654I |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101777009C>T,c.7847C>T,p.P2616L |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101776996G>C,c.7834G>C,p.E2612Q |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101773187G>A,c.7435G>A,p.V2479M |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101763631A>G,c.6517A>G,p.R2173G |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101761753A>G,c.6383A>G,p.K2128R |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101760476G>A,c.6266G>A,p.R2089Q |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101759271G>A,c.5993G>A,p.R1998Q |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101757517A>G,c.5954A>G,p.K1985R |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101750814T>A,c.5645T>A,p.L1882Q |
| UTP20(NM_014503,UTP20, small subunit (SSU) processome component, homolog (yeast),2785aa) | g.12:101750386G>A,c.5449G>A,p.E1817K |