| 基因名 | 突变 |
|---|---|
| HPN(NM_182983,hepsin,417aa) | g.19:35550609G>C,c.193G>C,p.V65L |
| HP(NM_005143,haptoglobin,406aa) | g.16:72094757G>C,c.1189G>C,p.D397H |
| HP(NM_005143,haptoglobin,406aa) | g.16:72094425G>A,c.857G>A,p.R286Q |
| HP(NM_005143,haptoglobin,406aa) | g.16:72094379G>A,c.811G>A,p.D271N |
| HP(NM_005143,haptoglobin,406aa) | g.16:72090434G>A,c.94G>A,p.G32S |
| HP(NM_005143,haptoglobin,406aa) | g.16:72090062C>A,c.8C>A,p.A3D |
| HPGDS(NM_014485,hematopoietic prostaglandin D synthase,199aa) | g.4:95229850T>C,c.271A>G,p.I91V |
| HPGDS(NM_014485,hematopoietic prostaglandin D synthase,199aa) | g.4:95229793C>T,c.328G>A,p.D110N |
| HPGDS(NM_014485,hematopoietic prostaglandin D synthase,199aa) | g.4:95229787T>C,c.334A>G,p.K112E |
| HPGDS(NM_014485,hematopoietic prostaglandin D synthase,199aa) | g.4:95223370G>A,c.362C>T,p.T121M |
| HPGDS(NM_014485,hematopoietic prostaglandin D synthase,199aa) | g.4:95223349A>G,c.383T>C,p.M128T |
| HPGDS(NM_014485,hematopoietic prostaglandin D synthase,199aa) | g.4:95223325C>G,c.407G>C,p.G136A |
| HPGDS(NM_014485,hematopoietic prostaglandin D synthase,199aa) | g.4:95220738G>C,c.493C>G,p.P165A |
| HPGDS(NM_014485,hematopoietic prostaglandin D synthase,199aa) | g.4:95220712C>G,c.519G>C,p.R173S |
| HPGDS(NM_014485,hematopoietic prostaglandin D synthase,199aa) | g.4:95220699G>A,c.532C>T,p.R178W |
| HPGDS(NM_014485,hematopoietic prostaglandin D synthase,199aa) | g.4:95220672C>T,c.559G>A,p.V187I |
| HPGDS(NM_014485,hematopoietic prostaglandin D synthase,199aa) | g.4:95220661C>G,c.570G>C,p.W190C |
| HPGDS(NM_014485,hematopoietic prostaglandin D synthase,199aa) | g.4:95220654G>A,c.577C>T,p.R193X |
| HPGD(NM_000860,hydroxyprostaglandin dehydrogenase 15-(NAD),266aa) | g.4:175429891T>C,c.377A>G,p.N126S |
| HPGD(NM_000860,hydroxyprostaglandin dehydrogenase 15-(NAD),266aa) | g.4:175416710G>A,c.487C>T,p.R163C |
| HPGD(NM_000860,hydroxyprostaglandin dehydrogenase 15-(NAD),266aa) | g.4:175414463C>A,c.501G>T,p.L167F |
| HPGD(NM_000860,hydroxyprostaglandin dehydrogenase 15-(NAD),266aa) | g.4:175414383A>G,c.581T>C,p.I194T |
| HPGD(NM_000860,hydroxyprostaglandin dehydrogenase 15-(NAD),266aa) | g.4:175414330C>T,c.634G>A,p.D212N |
| HPGD(NM_000860,hydroxyprostaglandin dehydrogenase 15-(NAD),266aa) | g.4:175414309T>A,c.655A>T,p.I219F |
| HPGD(NM_000860,hydroxyprostaglandin dehydrogenase 15-(NAD),266aa) | g.4:175413228T>C,c.680A>G,p.N227S |
| HPD(NM_001171993,4-hydroxyphenylpyruvate dioxygenase,354aa) | g.12:122292685C>T,c.221G>A,p.R74Q |
| HPD(NM_001171993,4-hydroxyphenylpyruvate dioxygenase,354aa) | g.12:122287613C>T,c.381G>A,p.M127I |
| HPD(NM_001171993,4-hydroxyphenylpyruvate dioxygenase,354aa) | g.12:122281677T>G,c.776A>C,p.Q259P |