| 基因名 | 突变 |
|---|---|
| IARS2(NM_018060,isoleucyl-tRNA synthetase 2, mitochondrial,1012aa) | g.1:220275706G>A,c.701G>A,p.G234D |
| IARS2(NM_018060,isoleucyl-tRNA synthetase 2, mitochondrial,1012aa) | g.1:220267581G>T,c.23G>T,p.R8L |
| IAPP(NM_000415,islet amyloid polypeptide,89aa) | g.12:21531247A>G,c.157A>G,p.S53G |
| IAPP(NM_000415,islet amyloid polypeptide,89aa) | g.12:21526367T>C,c.80+2T>C,p.27Donor |
| IAH1(NM_001039613,isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae),248aa) | g.2:9616161C>G,c.127C>G,p.L43V |
| HYPK(NM_016400,huntingtin interacting protein K,129aa) | g.15:44093954C>T,c.340C>T,p.R114W |
| HYPK(NM_016400,huntingtin interacting protein K,129aa) | g.15:44093927T>C,c.313T>C,p.S105P |
| HYOU1(NM_006389,hypoxia up-regulated 1,999aa) | g.11:118924855G>C,c.772C>G,p.Q258E |
| HYOU1(NM_006389,hypoxia up-regulated 1,999aa) | g.11:118923503C>T,c.833G>A,p.R278Q |
| HYOU1(NM_006389,hypoxia up-regulated 1,999aa) | g.11:118923018C>G,c.1111G>C,p.E371Q |
| HYOU1(NM_006389,hypoxia up-regulated 1,999aa) | g.11:118922814T>C,c.1193A>G,p.K398R |
| HYOU1(NM_006389,hypoxia up-regulated 1,999aa) | g.11:118922560C>T,c.1309G>A,p.V437I |
| HYOU1(NM_006389,hypoxia up-regulated 1,999aa) | g.11:118920540C>T,c.1675G>A,p.V559I |
| HYOU1(NM_006389,hypoxia up-regulated 1,999aa) | g.11:118920513C>T,c.1702G>A,p.A568T |
| HYOU1(NM_006389,hypoxia up-regulated 1,999aa) | g.11:118919562C>T,c.2029G>A,p.V677I |
| HYOU1(NM_006389,hypoxia up-regulated 1,999aa) | g.11:118919033C>T,c.2303G>A,p.R768H |
| HYOU1(NM_006389,hypoxia up-regulated 1,999aa) | g.11:118918721C>A,c.2448G>T,p.K816N |
| HYOU1(NM_006389,hypoxia up-regulated 1,999aa) | g.11:118917355T>C,c.2755A>G,p.K919E |
| HYLS1(NM_001134793,hydrolethalus syndrome 1,299aa) | g.11:125770006G>A,c.743G>A,p.R248Q |
| HYLS1(NM_001134793,hydrolethalus syndrome 1,299aa) | g.11:125769975C>T,c.712C>T,p.R238C |
| HYLS1(NM_001134793,hydrolethalus syndrome 1,299aa) | g.11:125769925G>A,c.662G>A,p.R221Q |
| HYLS1(NM_001134793,hydrolethalus syndrome 1,299aa) | g.11:125769536G>T,c.273G>T,p.K91N |
| HYLS1(NM_001134793,hydrolethalus syndrome 1,299aa) | g.11:125769354T>C,c.91T>C,p.C31R |
| HYLS1(NM_001134793,hydrolethalus syndrome 1,299aa) | g.11:125769349A>C,c.86A>C,p.H29P |
| HYKK(NM_001013619,hydroxylysine kinase,373aa) | g.15:78825917A>G,c.1027A>G,p.K343E |
| HYKK(NM_001013619,hydroxylysine kinase,373aa) | g.15:78825825G>T,c.935G>T,p.R312L |
| HYKK(NM_001013619,hydroxylysine kinase,373aa) | g.15:78825575G>A,c.685G>A,p.D229N |
| HYKK(NM_001013619,hydroxylysine kinase,373aa) | g.15:78807407T>A,c.435T>A,p.Y145X |