| 基因名 | 突变 |
|---|---|
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96139595G>A,c.35C>T,p.T12I |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96139473G>A,c.157C>T,p.R53X |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96139464C>T,c.166G>A,p.E56K |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96139458C>T,c.172G>A,p.V58I |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96139250C>G,c.380G>C,p.R127P |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96136677G>C,c.551C>G,p.P184R |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96130836T>C,c.828A>G,p.I276M |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96130769T>G,c.895A>C,p.I299L |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96129598T>C,c.982A>G,p.R328G |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96129543C>T,c.1037G>A,p.G346D |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96129535T>C,c.1045A>G,p.M349V |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96129512A>G,c.1068T>C,p.A356A |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96127865C>T,c.1219G>A,p.A407T |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96124373C>T,c.1540G>A,p.G514R |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96124330T>C,c.1583A>G,p.K528R |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96124300C>T,c.1613G>A,p.R538K |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96122210C>T,c.1723G>A,p.D575N |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96121496C>T,c.1939G>A,p.V647I |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96118866C>T,c.2174G>A,p.R725Q |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96118857C>T,c.2183G>A,p.R728Q |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96118852G>C,c.2188C>G,p.Q730E |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96118795C>T,c.2245G>A,p.G749S |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96118775C>G,c.2265G>C,p.K755N |
| ERAP1(NM_016442,endoplasmic reticulum aminopeptidase 1,948aa) | g.5:96112182A>G,c.2744T>C,p.I915T |
| ERAL1(NM_005702,Era-like 12S mitochondrial rRNA chaperone 1,437aa) | g.17:27187533G>A,c.1276G>A,p.D426N |
| ERAL1(NM_005702,Era-like 12S mitochondrial rRNA chaperone 1,437aa) | g.17:27187516T>G,c.1259T>G,p.M420R |
| ERAL1(NM_005702,Era-like 12S mitochondrial rRNA chaperone 1,437aa) | g.17:27185627G>A,c.745G>A,p.E249K |
| ERAL1(NM_005702,Era-like 12S mitochondrial rRNA chaperone 1,437aa) | g.17:27182078C>T,c.26C>T,p.A9V |