| 基因名 | 突变 |
|---|---|
| HUS1(NM_004507,HUS1 checkpoint homolog (S. pombe),280aa) | g.7:48016353G>T,c.439C>A,p.Q147K |
| HUS1(NM_004507,HUS1 checkpoint homolog (S. pombe),280aa) | g.7:48007476T>G,c.687A>C,p.E229D |
| HUS1B(NM_148959,HUS1 checkpoint homolog b (S. pombe),278aa) | g.6:656940T>G,c.5A>C,p.K2T |
| HUS1B(NM_148959,HUS1 checkpoint homolog b (S. pombe),278aa) | g.6:656622C>T,c.323G>A,p.R108H |
| HUS1B(NM_148959,HUS1 checkpoint homolog b (S. pombe),278aa) | g.6:656622C>G,c.323G>C,p.R108P |
| HUS1B(NM_148959,HUS1 checkpoint homolog b (S. pombe),278aa) | g.6:656555G>T,c.390C>A,p.H130Q |
| HUS1B(NM_148959,HUS1 checkpoint homolog b (S. pombe),278aa) | g.6:656415C>G,c.530G>C,p.S177T |
| HUS1B(NM_148959,HUS1 checkpoint homolog b (S. pombe),278aa) | g.6:656410C>T,c.535G>A,p.V179M |
| HUS1B(NM_148959,HUS1 checkpoint homolog b (S. pombe),278aa) | g.6:656380T>C,c.565A>G,p.M189V |
| HUS1B(NM_148959,HUS1 checkpoint homolog b (S. pombe),278aa) | g.6:656343T>C,c.602A>G,p.Q201R |
| HUS1B(NM_148959,HUS1 checkpoint homolog b (S. pombe),278aa) | g.6:656281C>G,c.664G>C,p.D222H |
| HUS1B(NM_148959,HUS1 checkpoint homolog b (S. pombe),278aa) | g.6:656143C>A,c.802G>T,p.D268Y |
| HUNK(NM_014586,hormonally up-regulated Neu-associated kinase,714aa) | g.21:33371456C>G,c.2104C>G,p.L702V |
| HUNK(NM_014586,hormonally up-regulated Neu-associated kinase,714aa) | g.21:33371295T>C,c.1943T>C,p.M648T |
| HUNK(NM_014586,hormonally up-regulated Neu-associated kinase,714aa) | g.21:33371294A>G,c.1942A>G,p.M648V |
| HUNK(NM_014586,hormonally up-regulated Neu-associated kinase,714aa) | g.21:33371238_33371239insC,c.1886_1887insC,p.629fs |
| HUNK(NM_014586,hormonally up-regulated Neu-associated kinase,714aa) | g.21:33371123C>T,c.1771C>T,p.R591C |
| HUNK(NM_014586,hormonally up-regulated Neu-associated kinase,714aa) | g.21:33371109C>T,c.1757C>T,p.P586L |
| HUNK(NM_014586,hormonally up-regulated Neu-associated kinase,714aa) | g.21:33371052G>A,c.1700G>A,p.R567H |
| HUNK(NM_014586,hormonally up-regulated Neu-associated kinase,714aa) | g.21:33370865C>T,c.1513C>T,p.R505C |
| HUNK(NM_014586,hormonally up-regulated Neu-associated kinase,714aa) | g.21:33362464G>A,c.1280G>A,p.R427Q |
| HUNK(NM_014586,hormonally up-regulated Neu-associated kinase,714aa) | g.21:33340661C>T,c.974C>T,p.T325M |
| HUNK(NM_014586,hormonally up-regulated Neu-associated kinase,714aa) | g.21:33340639C>T,c.952C>T,p.R318C |
| HUNK(NM_014586,hormonally up-regulated Neu-associated kinase,714aa) | g.21:33297054G>A,c.536G>A,p.R179Q |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3240648C>T,c.9158C>T,p.T3053M |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3234980G>A,c.8356G>A,p.V2786I |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3230428C>A,c.7935C>A,p.D2645E |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3230411_3230413del,c.7918_7920del,p.2640del |