| 基因名 | 突变 |
|---|---|
| HGD(NM_000187,homogentisate 1,2-dioxygenase,445aa) | g.3:120357337_120357338insC,c.970_971insG,p.324fs |
| HFM1(NM_001017975,HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae),1435aa) | g.1:91859909C>T,c.235G>A,p.E79K |
| HFM1(NM_001017975,HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae),1435aa) | g.1:91859801A>G,c.343T>C,p.S115P |
| HFM1(NM_001017975,HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae),1435aa) | g.1:91859795T>C,c.349A>G,p.I117V |
| HFM1(NM_001017975,HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae),1435aa) | g.1:91851365T>C,c.521A>G,p.H174R |
| HFM1(NM_001017975,HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae),1435aa) | g.1:91841203T>G,c.1477A>C,p.K493Q |
| HFM1(NM_001017975,HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae),1435aa) | g.1:91809014C>T,c.2308G>A,p.D770N |
| HFM1(NM_001017975,HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae),1435aa) | g.1:91790279C>G,c.2380G>C,p.V794L |
| HFM1(NM_001017975,HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae),1435aa) | g.1:91784886C>T,c.2644G>A,p.A882T |
| HFM1(NM_001017975,HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae),1435aa) | g.1:91782031T>C,c.2815A>G,p.I939V |
| HFM1(NM_001017975,HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae),1435aa) | g.1:91781510G>A,c.3002C>T,p.T1001M |
| HFM1(NM_001017975,HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae),1435aa) | g.1:91742541C>T,c.3470G>A,p.C1157Y |
| HFM1(NM_001017975,HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae),1435aa) | g.1:91742205G>A,c.3568C>T,p.P1190S |
| HFM1(NM_001017975,HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae),1435aa) | g.1:91728126G>A,c.3998C>T,p.S1333L |
| HFE(NM_000410,hemochromatosis,348aa) | g.6:26093180T>C,c.884T>C,p.V295A |
| HFE(NM_000410,hemochromatosis,348aa) | g.6:26093141G>A,c.845G>A,p.C282Y |
| HFE(NM_000410,hemochromatosis,348aa) | g.6:26093125G>A,c.829G>A,p.E277K |
| HFE(NM_000410,hemochromatosis,348aa) | g.6:26093062G>A,c.766G>A,p.V256I |
| HFE(NM_000410,hemochromatosis,348aa) | g.6:26091185A>T,c.193A>T,p.S65C |
| HFE(NM_000410,hemochromatosis,348aa) | g.6:26091179C>G,c.187C>G,p.H63D |
| HFE(NM_000410,hemochromatosis,348aa) | g.6:26087686G>C,c.18G>C,p.R6S |
| HFE2(NM_213653,hemochromatosis type 2 (juvenile),426aa) | g.1:145416584C>G,c.929C>G,p.A310G |
| HFE2(NM_213653,hemochromatosis type 2 (juvenile),426aa) | g.1:145416559G>A,c.904G>A,p.E302K |
| HFE2(NM_213653,hemochromatosis type 2 (juvenile),426aa) | g.1:145416475G>A,c.820G>A,p.V274M |
| HFE2(NM_213653,hemochromatosis type 2 (juvenile),426aa) | g.1:145414790G>C,c.9G>C,p.E3D |
| HEYL(NM_014571,hairy/enhancer-of-split related with YRPW motif-like,328aa) | g.1:40098328T>C,c.140A>G,p.H47R |
| HEYL(NM_014571,hairy/enhancer-of-split related with YRPW motif-like,328aa) | g.1:40092694C>T,c.472G>A,p.A158T |
| HEYL(NM_014571,hairy/enhancer-of-split related with YRPW motif-like,328aa) | g.1:40092550C>A,c.616G>T,p.G206C |