| 基因名 | 突变 |
|---|---|
| DDHD1(NM_001160148,DDHD domain containing 1,900aa) | g.14:53619500C>G,c.317G>C,p.G106A |
| DDHD1(NM_001160148,DDHD domain containing 1,900aa) | g.14:53619480T>C,c.337A>G,p.S113G |
| DDHD1(NM_001160148,DDHD domain containing 1,900aa) | g.14:53619480_53619481insGCCGCC,c.336_337insGGCGGC,p.112_113ins2aa |
| DDHD1(NM_001160148,DDHD domain containing 1,900aa) | g.14:53560055G>T,c.1120C>A,p.Q374K |
| DDHD1(NM_001160148,DDHD domain containing 1,900aa) | g.14:53522428C>T,c.2195G>A,p.R732H |
| DDHD1(NM_001160148,DDHD domain containing 1,900aa) | g.14:53521207C>T,c.2386G>A,p.V796I |
| DDHD1(NM_001160148,DDHD domain containing 1,900aa) | g.14:53513535T>C,c.2654A>G,p.Y885C |
| DDHD1(NM_001160148,DDHD domain containing 1,900aa) | g.14:53513506G>A,c.2683C>T,p.P895S |
| DDHD1(NM_001160148,DDHD domain containing 1,900aa) | g.14:53513500A>T,c.2689T>A,p.L897I |
| DDC(NM_001082971,dopa decarboxylase (aromatic L-amino acid decarboxylase),480aa) | g.7:50611735T>C,c.49A>G,p.M17V |
| DDC(NM_001082971,dopa decarboxylase (aromatic L-amino acid decarboxylase),480aa) | g.7:50596926C>G,c.550G>C,p.V184L |
| DDC(NM_001082971,dopa decarboxylase (aromatic L-amino acid decarboxylase),480aa) | g.7:50595900T>C,c.649A>G,p.M217V |
| DDC(NM_001082971,dopa decarboxylase (aromatic L-amino acid decarboxylase),480aa) | g.7:50571755C>A,c.717G>T,p.M239I |
| DDC(NM_001082971,dopa decarboxylase (aromatic L-amino acid decarboxylase),480aa) | g.7:50537776G>A,c.1135C>T,p.R379C |
| DDC(NM_001082971,dopa decarboxylase (aromatic L-amino acid decarboxylase),480aa) | g.7:50531011G>A,c.1361C>T,p.T454M |
| DDC(NM_001082971,dopa decarboxylase (aromatic L-amino acid decarboxylase),480aa) | g.7:50530987C>T,c.1385G>A,p.R462Q |
| DDC(NM_001082971,dopa decarboxylase (aromatic L-amino acid decarboxylase),480aa) | g.7:50530937T>C,c.1435A>G,p.R479G |
| DDB2(NM_000107,damage-specific DNA binding protein 2, 48kDa,427aa) | g.11:47259728G>A,c.1228G>A,p.A410T |
| DDB2(NM_000107,damage-specific DNA binding protein 2, 48kDa,427aa) | g.11:47256210T>C,c.689T>C,p.M230T |
| DDB2(NM_000107,damage-specific DNA binding protein 2, 48kDa,427aa) | g.11:47256195T>C,c.674T>C,p.V225A |
| DDB2(NM_000107,damage-specific DNA binding protein 2, 48kDa,427aa) | g.11:47254485G>A,c.577G>A,p.V193I |
| DDB2(NM_000107,damage-specific DNA binding protein 2, 48kDa,427aa) | g.11:47237977T>A,c.218T>A,p.L73H |
| DDB1(NM_001923,damage-specific DNA binding protein 1, 127kDa,1140aa) | g.11:61099151G>A,c.74C>T,p.S25L |
| DDB1(NM_001923,damage-specific DNA binding protein 1, 127kDa,1140aa) | g.11:61081819T>C,c.1550A>G,p.Y517C |
| DDAH2(NM_013974,dimethylarginine dimethylaminohydrolase 2,285aa) | g.6:31696928G>C,c.11C>G,p.P4R |
| DDAH2(NM_013974,dimethylarginine dimethylaminohydrolase 2,285aa) | g.6:31696235G>A,c.464C>T,p.T155M |
| DDAH1(NM_001134445,dimethylarginine dimethylaminohydrolase 1,182aa) | g.1:85817260T>C,c.97A>G,p.R33G |
| DCXR(NM_016286,dicarbonyl/L-xylulose reductase,244aa) | g.17:79994777A>T,c.263T>A,p.L88Q |