| 基因名 | 突变 |
|---|---|
| HIP1R(NM_003959,huntingtin interacting protein 1 related,1068aa) | g.12:123341589C>T,c.1642C>T,p.R548W |
| HIP1R(NM_003959,huntingtin interacting protein 1 related,1068aa) | g.12:123341245C>T,c.1592C>T,p.A531V |
| HIP1R(NM_003959,huntingtin interacting protein 1 related,1068aa) | g.12:123341199A>C,c.1546A>C,p.K516Q |
| HIP1R(NM_003959,huntingtin interacting protein 1 related,1068aa) | g.12:123341045G>A,c.1468G>A,p.E490K |
| HIP1R(NM_003959,huntingtin interacting protein 1 related,1068aa) | g.12:123340632C>T,c.1234C>T,p.L412F |
| HIP1R(NM_003959,huntingtin interacting protein 1 related,1068aa) | g.12:123340539A>G,c.1141A>G,p.I381V |
| HIP1R(NM_003959,huntingtin interacting protein 1 related,1068aa) | g.12:123339903C>T,c.944C>T,p.P315L |
| HIP1R(NM_003959,huntingtin interacting protein 1 related,1068aa) | g.12:123339487C>T,c.754C>T,p.R252W |
| HIP1R(NM_003959,huntingtin interacting protein 1 related,1068aa) | g.12:123335398C>T,c.455C>T,p.A152V |
| HIP1R(NM_003959,huntingtin interacting protein 1 related,1068aa) | g.12:123333380G>A,c.338G>A,p.R113Q |
| HIP1(NM_005338,huntingtin interacting protein 1,1037aa) | g.7:75368135C>G,c.104G>C,p.S35T |
| HIP1(NM_005338,huntingtin interacting protein 1,1037aa) | g.7:75211431G>A,c.502C>T,p.R168C |
| HIP1(NM_005338,huntingtin interacting protein 1,1037aa) | g.7:75187016C>T,c.1523G>A,p.R508Q |
| HIP1(NM_005338,huntingtin interacting protein 1,1037aa) | g.7:75186984G>A,c.1555C>T,p.R519C |
| HIP1(NM_005338,huntingtin interacting protein 1,1037aa) | g.7:75183810G>A,c.1979C>T,p.T660M |
| HIP1(NM_005338,huntingtin interacting protein 1,1037aa) | g.7:75182802C>T,c.2245G>A,p.D749N |
| HIP1(NM_005338,huntingtin interacting protein 1,1037aa) | g.7:75182757C>T,c.2290G>A,p.G764S |
| HIP1(NM_005338,huntingtin interacting protein 1,1037aa) | g.7:75172226G>A,c.2834C>T,p.A945V |
| HIP1(NM_005338,huntingtin interacting protein 1,1037aa) | g.7:75171275G>A,c.2915C>T,p.T972M |
| HIP1(NM_005338,huntingtin interacting protein 1,1037aa) | g.7:75171258G>A,c.2932C>T,p.R978C |
| HINT3(NM_138571,histidine triad nucleotide binding protein 3,182aa) | g.6:126278287G>A,c.164G>A,p.G55E |
| HINT3(NM_138571,histidine triad nucleotide binding protein 3,182aa) | g.6:126278230G>C,c.107G>C,p.G36A |
| HINFP(NM_015517,histone H4 transcription factor,517aa) | g.11:119005132C>T,c.1478C>T,p.A493V |
| HINFP(NM_015517,histone H4 transcription factor,517aa) | g.11:119005003G>A,c.1349G>A,p.G450E |
| HINFP(NM_015517,histone H4 transcription factor,517aa) | g.11:119003845A>G,c.1055A>G,p.K352R |
| HINFP(NM_015517,histone H4 transcription factor,517aa) | g.11:119003485A>G,c.869A>G,p.D290G |
| HINFP(NM_015517,histone H4 transcription factor,517aa) | g.11:119001441A>G,c.188A>G,p.E63G |
| HILPDA(NM_013332,hypoxia inducible lipid droplet-associated,63aa) | g.7:128097441G>C,c.119G>C,p.W40S |