| 基因名 | 突变 |
|---|---|
| HBB(NM_000518,hemoglobin, beta,147aa) | g.11:5246948_5246949insC,c.323_324insG,p.108fs |
| HBB(NM_000518,hemoglobin, beta,147aa) | g.11:5246931A>T,c.341T>A,p.V114E |
| HBB(NM_000518,hemoglobin, beta,147aa) | g.11:5246908C>G,c.364G>C,p.E122Q |
| HBA2(NM_000517,hemoglobin, alpha 2,142aa) | g.16:223597T>C,c.427T>C,p.X143Q |
| HBA2(NM_000517,hemoglobin, alpha 2,142aa) | g.16:223547T>C,c.377T>C,p.L126P |
| HBA2(NM_000517,hemoglobin, alpha 2,142aa) | g.16:223539C>G,c.369C>G,p.H123Q |
| HBA1(NM_000558,hemoglobin, alpha 1,142aa) | g.16:227345G>A,c.364G>A,p.V122M |
| HBA1(NM_000558,hemoglobin, alpha 1,142aa) | g.16:227339C>T,c.358C>T,p.P120S |
| HAX1(NM_006118,HCLS1 associated protein X-1,279aa) | g.1:154248166C>T,c.829C>T,p.R277W |
| HAX1(NM_006118,HCLS1 associated protein X-1,279aa) | g.1:154247909G>A,c.704G>A,p.R235Q |
| HAX1(NM_006118,HCLS1 associated protein X-1,279aa) | g.1:154247884C>T,c.679C>T,p.R227W |
| HAX1(NM_006118,HCLS1 associated protein X-1,279aa) | g.1:154247666C>T,c.593C>T,p.P198L |
| HAX1(NM_006118,HCLS1 associated protein X-1,279aa) | g.1:154247435G>A,c.514G>A,p.V172I |
| HAX1(NM_006118,HCLS1 associated protein X-1,279aa) | g.1:154245903C>A,c.145C>A,p.P49T |
| HAVCR2(NM_032782,hepatitis A virus cellular receptor 2,301aa) | g.5:156533787T>C,c.245A>G,p.Y82C |
| HAVCR2(NM_032782,hepatitis A virus cellular receptor 2,301aa) | g.5:156533767G>A,c.265C>T,p.R89C |
| HAVCR2(NM_032782,hepatitis A virus cellular receptor 2,301aa) | g.5:156533758C>T,c.274G>A,p.D92N |
| HAVCR2(NM_032782,hepatitis A virus cellular receptor 2,301aa) | g.5:156533741T>C,c.291A>G,p.I97M |
| HAVCR2(NM_032782,hepatitis A virus cellular receptor 2,301aa) | g.5:156533730G>A,c.302C>T,p.T101I |
| HAVCR2(NM_032782,hepatitis A virus cellular receptor 2,301aa) | g.5:156531736C>A,c.419G>T,p.R140L |
| HAVCR2(NM_032782,hepatitis A virus cellular receptor 2,301aa) | g.5:156531694G>C,c.461C>G,p.T154S |
| HAVCR2(NM_032782,hepatitis A virus cellular receptor 2,301aa) | g.5:156514208C>T,c.811G>A,p.V271I |
| HAVCR2(NM_032782,hepatitis A virus cellular receptor 2,301aa) | g.5:156514189G>A,c.830C>T,p.P277L |
| HAVCR1(NM_012206,hepatitis A virus cellular receptor 1,364aa) | g.5:156482296C>G,c.295G>C,p.D99H |
| HAVCR1(NM_012206,hepatitis A virus cellular receptor 1,364aa) | g.5:156479590G>A,c.455C>T,p.T152M |
| HAVCR1(NM_012206,hepatitis A virus cellular receptor 1,364aa) | g.5:156479572A>G,c.473T>C,p.M158T |
| HAVCR1(NM_012206,hepatitis A virus cellular receptor 1,364aa) | g.5:156479571C>T,c.474G>A,p.M158I |
| HAVCR1(NM_012206,hepatitis A virus cellular receptor 1,364aa) | g.5:156479568_156479569insGTT,c.476_477insAAC,p.159ins1aa |