| 基因名 | 突变 |
|---|---|
| RRP36(NM_033112,ribosomal RNA processing 36 homolog (S. cerevisiae),259aa) | g.6:42992783C>T,c.191C>T,p.T64M |
| RRP36(NM_033112,ribosomal RNA processing 36 homolog (S. cerevisiae),259aa) | g.6:42989434_42989451del,c.42_59del,p.14_20del |
| RRP36(NM_033112,ribosomal RNA processing 36 homolog (S. cerevisiae),259aa) | g.6:42989414_42989419del,c.22_27del,p.8_9del |
| RRP1(NM_003683,ribosomal RNA processing 1,461aa) | g.21:45223524C>T,c.1255C>T,p.R419X |
| RRP1(NM_003683,ribosomal RNA processing 1,461aa) | g.21:45223504C>T,c.1235C>T,p.T412I |
| RRP1(NM_003683,ribosomal RNA processing 1,461aa) | g.21:45222239A>G,c.1094A>G,p.K365R |
| RRP1(NM_003683,ribosomal RNA processing 1,461aa) | g.21:45220483A>G,c.977A>G,p.K326R |
| RRP1(NM_003683,ribosomal RNA processing 1,461aa) | g.21:45220474G>A,c.968G>A,p.R323H |
| RRP1(NM_003683,ribosomal RNA processing 1,461aa) | g.21:45220407G>A,c.901G>A,p.E301K |
| RRP1(NM_003683,ribosomal RNA processing 1,461aa) | g.21:45217979C>T,c.809C>T,p.A270V |
| RRP1(NM_003683,ribosomal RNA processing 1,461aa) | g.21:45217936C>T,c.766C>T,p.R256C |
| RRP1(NM_003683,ribosomal RNA processing 1,461aa) | g.21:45217542G>A,c.583G>A,p.D195N |
| RRP1(NM_003683,ribosomal RNA processing 1,461aa) | g.21:45217539A>G,c.580A>G,p.I194V |
| RRP1B(NM_015056,ribosomal RNA processing 1B,758aa) | g.21:45110316G>A,c.2014G>A,p.V672I |
| RRP1B(NM_015056,ribosomal RNA processing 1B,758aa) | g.21:45110253C>G,c.1951C>G,p.P651A |
| RRP1B(NM_015056,ribosomal RNA processing 1B,758aa) | g.21:45108038A>C,c.1783A>C,p.K595Q |
| RRP1B(NM_015056,ribosomal RNA processing 1B,758aa) | g.21:45107943C>T,c.1688C>T,p.T563M |
| RRP1B(NM_015056,ribosomal RNA processing 1B,758aa) | g.21:45107766G>A,c.1511G>A,p.G504D |
| RRP1B(NM_015056,ribosomal RNA processing 1B,758aa) | g.21:45107562T>C,c.1307T>C,p.L436P |
| RRP1B(NM_015056,ribosomal RNA processing 1B,758aa) | g.21:45096738G>A,c.739G>A,p.E247K |
| RRP1B(NM_015056,ribosomal RNA processing 1B,758aa) | g.21:45094917G>A,c.422G>A,p.R141Q |
| RRP1B(NM_015056,ribosomal RNA processing 1B,758aa) | g.21:45079558A>G,c.13A>G,p.M5V |
| RRP15(NM_016052,ribosomal RNA processing 15 homolog (S. cerevisiae),282aa) | g.1:218480973A>G,c.704A>G,p.Q235R |
| RRP15(NM_016052,ribosomal RNA processing 15 homolog (S. cerevisiae),282aa) | g.1:218480958A>G,c.689A>G,p.K230R |
| RRP15(NM_016052,ribosomal RNA processing 15 homolog (S. cerevisiae),282aa) | g.1:218480862G>A,c.593G>A,p.R198H |
| RRP15(NM_016052,ribosomal RNA processing 15 homolog (S. cerevisiae),282aa) | g.1:218478430A>G,c.466A>G,p.K156E |
| RRP15(NM_016052,ribosomal RNA processing 15 homolog (S. cerevisiae),282aa) | g.1:218478411G>C,c.447G>C,p.K149N |
| RRP15(NM_016052,ribosomal RNA processing 15 homolog (S. cerevisiae),282aa) | g.1:218478371G>A,c.407G>A,p.R136H |