| 基因名 | 突变 |
|---|---|
| TSR1(NM_018128,TSR1, 20S rRNA accumulation, homolog (S. cerevisiae),804aa) | g.17:2235610A>G,c.1349T>C,p.I450T |
| TSR1(NM_018128,TSR1, 20S rRNA accumulation, homolog (S. cerevisiae),804aa) | g.17:2235580T>C,c.1379A>G,p.D460G |
| TSR1(NM_018128,TSR1, 20S rRNA accumulation, homolog (S. cerevisiae),804aa) | g.17:2235469C>T,c.1490G>A,p.R497Q |
| TSR1(NM_018128,TSR1, 20S rRNA accumulation, homolog (S. cerevisiae),804aa) | g.17:2233880C>T,c.1699G>A,p.V567I |
| TSR1(NM_018128,TSR1, 20S rRNA accumulation, homolog (S. cerevisiae),804aa) | g.17:2227988T>C,c.2156A>G,p.N719S |
| TSR1(NM_018128,TSR1, 20S rRNA accumulation, homolog (S. cerevisiae),804aa) | g.17:2227655G>T,c.2250C>A,p.H750Q |
| TSR1(NM_018128,TSR1, 20S rRNA accumulation, homolog (S. cerevisiae),804aa) | g.17:2227629A>C,c.2276T>G,p.L759R |
| TSPYL6(NM_001003937,TSPY-like 6,410aa) | g.2:54483272C>A,c.17G>T,p.S6I |
| TSPYL6(NM_001003937,TSPY-like 6,410aa) | g.2:54482964C>T,c.325G>A,p.G109S |
| TSPYL6(NM_001003937,TSPY-like 6,410aa) | g.2:54482942G>A,c.347C>T,p.P116L |
| TSPYL6(NM_001003937,TSPY-like 6,410aa) | g.2:54482716del,c.573del,p.191fs |
| TSPYL6(NM_001003937,TSPY-like 6,410aa) | g.2:54482704_54482709del,c.580_585del,p.194_195del |
| TSPYL6(NM_001003937,TSPY-like 6,410aa) | g.2:54482553G>A,c.736C>T,p.R246C |
| TSPYL6(NM_001003937,TSPY-like 6,410aa) | g.2:54482404C>G,c.885G>C,p.K295N |
| TSPYL6(NM_001003937,TSPY-like 6,410aa) | g.2:54482111C>T,c.1178G>A,p.R393H |
| TSPYL5(NM_033512,TSPY-like 5,417aa) | g.8:98290012C>A,c.61G>T,p.A21S |
| TSPYL5(NM_033512,TSPY-like 5,417aa) | g.8:98289721C>T,c.352G>A,p.A118T |
| TSPYL5(NM_033512,TSPY-like 5,417aa) | g.8:98289714G>C,c.359C>G,p.T120S |
| TSPYL5(NM_033512,TSPY-like 5,417aa) | g.8:98289666G>A,c.407C>T,p.P136L |
| TSPYL5(NM_033512,TSPY-like 5,417aa) | g.8:98289633T>C,c.440A>G,p.K147R |
| TSPYL5(NM_033512,TSPY-like 5,417aa) | g.8:98289249C>T,c.824G>A,p.S275N |
| TSPYL5(NM_033512,TSPY-like 5,417aa) | g.8:98289238T>C,c.835A>G,p.S279G |
| TSPYL4(NM_021648,TSPY-like 4,414aa) | g.6:116575116G>T,c.56C>A,p.A19D |
| TSPYL4(NM_021648,TSPY-like 4,414aa) | g.6:116575083C>A,c.89G>T,p.R30L |
| TSPYL4(NM_021648,TSPY-like 4,414aa) | g.6:116574994C>G,c.178G>C,p.G60R |
| TSPYL4(NM_021648,TSPY-like 4,414aa) | g.6:116574977A>C,c.195T>G,p.D65E |
| TSPYL4(NM_021648,TSPY-like 4,414aa) | g.6:116574940C>T,c.232G>A,p.A78T |
| TSPYL4(NM_021648,TSPY-like 4,414aa) | g.6:116574703G>T,c.469C>A,p.R157S |