| 基因名 | 突变 |
|---|---|
| RSAD1(NM_018346,radical S-adenosyl methionine domain containing 1,442aa) | g.17:48556262C>T,c.17C>T,p.A6V |
| RS1(NM_000330,retinoschisin 1,224aa) | g.X:18675762C>T,c.76G>A,p.E26K |
| RS1(NM_000330,retinoschisin 1,224aa) | g.X:18674869C>T,c.88G>A,p.E30K |
| RS1(NM_000330,retinoschisin 1,224aa) | g.X:18662600C>T,c.472G>A,p.D158N |
| RS1(NM_000330,retinoschisin 1,224aa) | g.X:18660219_18660220insG,c.579_580insC,p.193fs |
| RS1(NM_000330,retinoschisin 1,224aa) | g.X:18660135_18660136insG,c.663_664insC,p.221fs |
| RRS1(NM_015169,RRS1 ribosome biogenesis regulator homolog (S. cerevisiae),365aa) | g.8:67342328G>A,c.962G>A,p.G321D |
| RRS1(NM_015169,RRS1 ribosome biogenesis regulator homolog (S. cerevisiae),365aa) | g.8:67342256A>G,c.890A>G,p.Q297R |
| RRS1(NM_015169,RRS1 ribosome biogenesis regulator homolog (S. cerevisiae),365aa) | g.8:67342213G>C,c.847G>C,p.D283H |
| RRS1(NM_015169,RRS1 ribosome biogenesis regulator homolog (S. cerevisiae),365aa) | g.8:67342165A>T,c.799A>T,p.N267Y |
| RRS1(NM_015169,RRS1 ribosome biogenesis regulator homolog (S. cerevisiae),365aa) | g.8:67342088A>G,c.722A>G,p.K241R |
| RRS1(NM_015169,RRS1 ribosome biogenesis regulator homolog (S. cerevisiae),365aa) | g.8:67342031T>C,c.665T>C,p.M222T |
| RRS1(NM_015169,RRS1 ribosome biogenesis regulator homolog (S. cerevisiae),365aa) | g.8:67341938G>T,c.572G>T,p.R191L |
| RRS1(NM_015169,RRS1 ribosome biogenesis regulator homolog (S. cerevisiae),365aa) | g.8:67341861del,c.495del,p.165fs |
| RRS1(NM_015169,RRS1 ribosome biogenesis regulator homolog (S. cerevisiae),365aa) | g.8:67341743A>G,c.377A>G,p.K126R |
| RRS1(NM_015169,RRS1 ribosome biogenesis regulator homolog (S. cerevisiae),365aa) | g.8:67341714G>C,c.348G>C,p.Q116H |
| RRP9(NM_004704,ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast),475aa) | g.3:51972181_51972183del,c.208_210del,p.70del |
| RRP9(NM_004704,ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast),475aa) | g.3:51971298G>A,c.427C>T,p.R143W |
| RRP9(NM_004704,ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast),475aa) | g.3:51970353G>A,c.655C>T,p.R219C |
| RRP9(NM_004704,ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast),475aa) | g.3:51970296T>G,c.712A>C,p.T238P |
| RRP9(NM_004704,ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast),475aa) | g.3:51970274G>A,c.734C>T,p.S245L |
| RRP9(NM_004704,ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast),475aa) | g.3:51969657G>A,c.787C>T,p.R263C |
| RRP9(NM_004704,ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast),475aa) | g.3:51969223C>T,c.1024G>A,p.A342T |
| RRP8(NM_015324,ribosomal RNA processing 8, methyltransferase, homolog (yeast),456aa) | g.11:6623435C>T,c.110G>A,p.R37H |
| RRP8(NM_015324,ribosomal RNA processing 8, methyltransferase, homolog (yeast),456aa) | g.11:6623433G>A,c.112C>T,p.R38C |
| RRP8(NM_015324,ribosomal RNA processing 8, methyltransferase, homolog (yeast),456aa) | g.11:6623372C>G,c.173G>C,p.S58T |
| RRP8(NM_015324,ribosomal RNA processing 8, methyltransferase, homolog (yeast),456aa) | g.11:6623316T>G,c.229A>C,p.K77Q |
| RRP8(NM_015324,ribosomal RNA processing 8, methyltransferase, homolog (yeast),456aa) | g.11:6623112C>G,c.433G>C,p.A145P |