| 基因名 | 突变 |
|---|---|
| UTP18(NM_016001,UTP18 small subunit (SSU) processome component homolog (yeast),556aa) | g.17:49337955G>C,c.10G>C,p.E4Q |
| UTP15(NM_032175,UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae),518aa) | g.5:72875795G>A,c.1433G>A,p.R478K |
| UTP15(NM_032175,UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae),518aa) | g.5:72874636A>G,c.1105A>G,p.K369E |
| UTP15(NM_032175,UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae),518aa) | g.5:72873736A>T,c.950A>T,p.H317L |
| UTP15(NM_032175,UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae),518aa) | g.5:72868397T>G,c.757T>G,p.C253G |
| UTP15(NM_032175,UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae),518aa) | g.5:72868322T>C,c.682T>C,p.Y228H |
| UTP15(NM_032175,UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae),518aa) | g.5:72866450C>T,c.587C>T,p.T196M |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52605154C>G,c.2214C>G,p.Y738X |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52605134A>C,c.2194A>C,p.K732Q |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52604954C>T,c.2014C>T,p.R672C |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52604894G>A,c.1954G>A,p.A652T |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52604652G>C,c.1712G>C,p.R571T |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52604568G>A,c.1628G>A,p.R543Q |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52604235C>A,c.1295C>A,p.S432Y |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52603896G>A,c.956G>A,p.R319H |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52603662G>A,c.722G>A,p.R241Q |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52603629G>A,c.689G>A,p.R230Q |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52603623G>A,c.683G>A,p.R228K |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52603608G>A,c.668G>A,p.R223Q |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52603448A>G,c.508A>G,p.I170V |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52603241A>G,c.301A>G,p.T101A |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52603194G>T,c.254G>T,p.G85V |
| UTP14C(NM_021645,UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast),766aa) | g.13:52603112C>T,c.172C>T,p.R58W |
| UTP14A(NM_006649,UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast),771aa) | g.X:129063487G>A,c.2219G>A,p.R740Q |
| UTP14A(NM_006649,UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast),771aa) | g.X:129058923T>A,c.1501T>A,p.L501M |
| UTP14A(NM_006649,UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast),771aa) | g.X:129058882T>C,c.1460T>C,p.V487A |
| UTP14A(NM_006649,UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast),771aa) | g.X:129054495G>A,c.815G>A,p.R272Q |
| UTP14A(NM_006649,UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast),771aa) | g.X:129054446G>A,c.766G>A,p.V256M |