| 基因名 | 突变 |
|---|---|
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32448936C>T,c.2413C>T,p.R805C |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32440488G>A,c.2273G>A,p.R758Q |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32436286G>A,c.2138G>A,p.R713Q |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32434576C>T,c.1976C>T,p.P659L |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32429489A>C,c.1557A>C,p.E519D |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32427406G>A,c.1456G>A,p.G486R |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32427337G>A,c.1387G>A,p.V463M |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32424659C>A,c.1184C>A,p.A395D |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32423320G>A,c.974G>A,p.R325H |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32421008C>T,c.953C>T,p.T318M |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32418473A>G,c.622A>G,p.T208A |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32418178C>T,c.457C>T,p.R153X |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32407259G>A,c.98G>A,p.G33E |
| ACO1(NM_001278352,aconitase 1, soluble,889aa) | g.9:32405520G>A,c.16G>A,p.A6T |
| ACN9(NM_020186,ACN9 homolog (S. cerevisiae),125aa) | g.7:96810430G>A,c.281G>A,p.R94H |
| ACN9(NM_020186,ACN9 homolog (S. cerevisiae),125aa) | g.7:96747192T>C,c.157T>C,p.F53L |
| ACMSD(NM_138326,aminocarboxymuconate semialdehyde decarboxylase,336aa) | g.2:135628585G>A,c.631G>A,p.V211I |
| ACMSD(NM_138326,aminocarboxymuconate semialdehyde decarboxylase,336aa) | g.2:135625210G>A,c.548G>A,p.R183Q |
| ACMSD(NM_138326,aminocarboxymuconate semialdehyde decarboxylase,336aa) | g.2:135621143T>C,c.428T>C,p.I143T |
| ACMSD(NM_138326,aminocarboxymuconate semialdehyde decarboxylase,336aa) | g.2:135616891G>C,c.163G>C,p.D55H |
| ACMSD(NM_138326,aminocarboxymuconate semialdehyde decarboxylase,336aa) | g.2:135616877G>A,c.149G>A,p.R50Q |
| ACMSD(NM_138326,aminocarboxymuconate semialdehyde decarboxylase,336aa) | g.2:135602847G>T,c.102G>T,p.K34N |
| ACMSD(NM_138326,aminocarboxymuconate semialdehyde decarboxylase,336aa) | g.2:135602815G>A,c.70G>A,p.G24R |
| ACMSD(NM_138326,aminocarboxymuconate semialdehyde decarboxylase,336aa) | g.2:135596266T>C,c.14T>C,p.I5T |
| ACLY(NM_001096,ATP citrate lyase,1101aa) | g.17:40065774T>G,c.525A>C,p.E175D |
| ACLY(NM_001096,ATP citrate lyase,1101aa) | g.17:40063720G>T,c.722C>A,p.P241H |
| ACLY(NM_001096,ATP citrate lyase,1101aa) | g.17:40058009T>C,c.1123A>G,p.I375V |
| ACLY(NM_001096,ATP citrate lyase,1101aa) | g.17:40042392T>C,c.2045A>G,p.Y682C |