| 基因名 | 突变 |
|---|---|
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39881395C>T,c.1418G>A,p.R473H |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39881368C>T,c.1445G>A,p.R482Q |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39881327T>C,c.1486A>G,p.I496V |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39881305G>A,c.1508C>T,p.T503M |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39881299G>A,c.1514C>T,p.A505V |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39881289G>C,c.1524C>G,p.F508L |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39881003C>T,c.1810G>A,p.G604R |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39880966G>T,c.1847C>A,p.S616X |
| HAP1(NM_177977,huntingtin-associated protein 1,619aa) | g.17:39880958G>A,c.1855C>T,p.R619X |
| HAO2(NM_001005783,hydroxyacid oxidase 2 (long chain),351aa) | g.1:119936419G>T,c.1012G>T,p.V338F |
| HAO2(NM_001005783,hydroxyacid oxidase 2 (long chain),351aa) | g.1:119927479G>A,c.364G>A,p.E122K |
| HAO2(NM_001005783,hydroxyacid oxidase 2 (long chain),351aa) | g.1:119925645T>A,c.239T>A,p.F80Y |
| HAO2(NM_001005783,hydroxyacid oxidase 2 (long chain),351aa) | g.1:119925555G>A,c.149G>A,p.R50Q |
| HAO2(NM_001005783,hydroxyacid oxidase 2 (long chain),351aa) | g.1:119923751G>A,c.43G>A,p.E15K |
| HAO2(NM_001005783,hydroxyacid oxidase 2 (long chain),351aa) | g.1:119923724T>G,c.16T>G,p.L6V |
| HAO1(NM_017545,hydroxyacid oxidase (glycolate oxidase) 1,370aa) | g.20:7915210C>A,c.210G>T,p.R70S |
| HAO1(NM_017545,hydroxyacid oxidase (glycolate oxidase) 1,370aa) | g.20:7895036A>C,c.320T>G,p.L107W |
| HAO1(NM_017545,hydroxyacid oxidase (glycolate oxidase) 1,370aa) | g.20:7895021G>T,c.335C>A,p.T112N |
| HAO1(NM_017545,hydroxyacid oxidase (glycolate oxidase) 1,370aa) | g.20:7886834A>G,c.688T>C,p.S230P |
| HAO1(NM_017545,hydroxyacid oxidase (glycolate oxidase) 1,370aa) | g.20:7866442G>A,c.883C>T,p.R295W |
| HAO1(NM_017545,hydroxyacid oxidase (glycolate oxidase) 1,370aa) | g.20:7866394C>T,c.931G>A,p.V311M |
| HAO1(NM_017545,hydroxyacid oxidase (glycolate oxidase) 1,370aa) | g.20:7864284T>C,c.1069A>G,p.K357E |
| HAND2(NM_021973,heart and neural crest derivatives expressed 2,217aa) | g.4:174448488C>G,c.594G>C,p.K198N |
| HAND1(NM_004821,heart and neural crest derivatives expressed 1,215aa) | g.5:153857396G>T,c.173C>A,p.A58E |
| HAND1(NM_004821,heart and neural crest derivatives expressed 1,215aa) | g.5:153857322C>A,c.247G>T,p.G83W |
| HAMP(NM_021175,hepcidin antimicrobial peptide,84aa) | g.19:35775902G>A,c.212G>A,p.G71D |
| HAMP(NM_021175,hepcidin antimicrobial peptide,84aa) | g.19:35775693C>T,c.92C>T,p.T31M |
| HAL(NM_002108,histidine ammonia-lyase,657aa) | g.12:96389664G>A,c.25C>T,p.R9C |