| 基因名 | 突变 |
|---|---|
| DPP10(NM_001178036,dipeptidyl-peptidase 10 (non-functional),746aa) | g.2:116497420G>A,c.653G>A,p.R218Q |
| DPP10(NM_001178036,dipeptidyl-peptidase 10 (non-functional),746aa) | g.2:116447487G>A,c.416G>A,p.G139E |
| DPP10(NM_001178036,dipeptidyl-peptidase 10 (non-functional),746aa) | g.2:116257106A>G,c.142A>G,p.S48G |
| DPM2(NM_003863,dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit,84aa) | g.9:130698874C>T,c.154G>A,p.A52T |
| DPM2(NM_003863,dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit,84aa) | g.9:130698029G>C,c.227C>G,p.T76S |
| DPM1(NM_003859,dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit,260aa) | g.20:49575050A>C,c.11T>G,p.L4W |
| DPM1(NM_003859,dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit,260aa) | g.20:49575039G>A,c.22C>T,p.R8C |
| DPM1(NM_003859,dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit,260aa) | g.20:49551673G>A,c.779C>T,p.T260I |
| DPH7(NM_138778,diphthamide biosynthesis 7,452aa) | g.9:140473111C>T,c.119G>A,p.R40Q |
| DPH7(NM_138778,diphthamide biosynthesis 7,452aa) | g.9:140468828C>T,c.472G>A,p.G158R |
| DPH7(NM_138778,diphthamide biosynthesis 7,452aa) | g.9:140459604C>A,c.643G>T,p.G215C |
| DPH7(NM_138778,diphthamide biosynthesis 7,452aa) | g.9:140459370G>A,c.751C>T,p.R251W |
| DPH7(NM_138778,diphthamide biosynthesis 7,452aa) | g.9:140459369C>T,c.752G>A,p.R251Q |
| DPH7(NM_138778,diphthamide biosynthesis 7,452aa) | g.9:140458943G>A,c.892C>T,p.L298F |
| DPH7(NM_138778,diphthamide biosynthesis 7,452aa) | g.9:140450082G>A,c.968C>T,p.T323M |
| DPH7(NM_138778,diphthamide biosynthesis 7,452aa) | g.9:140450056C>T,c.994G>A,p.D332N |
| DPH7(NM_138778,diphthamide biosynthesis 7,452aa) | g.9:140450001C>T,c.1049G>A,p.R350Q |
| DPH7(NM_138778,diphthamide biosynthesis 7,452aa) | g.9:140449731T>C,c.1319A>G,p.Y440C |
| DPH6(NM_001141972,diphthamine biosynthesis 6,165aa) | g.15:35834625G>C,c.107C>G,p.A36G |
| DPH6(NM_001141972,diphthamine biosynthesis 6,165aa) | g.15:35830665C>T,c.122G>A,p.G41E |
| DPH6(NM_001141972,diphthamine biosynthesis 6,165aa) | g.15:35830651C>T,c.136G>A,p.D46N |
| DPH6(NM_001141972,diphthamine biosynthesis 6,165aa) | g.15:35814467T>C,c.325A>G,p.M109V |
| DPH6(NM_001141972,diphthamine biosynthesis 6,165aa) | g.15:35814404C>T,c.388G>A,p.G130S |
| DPH6(NM_001141972,diphthamine biosynthesis 6,165aa) | g.15:35814392T>G,c.400A>C,p.I134L |
| DPH5(NM_001077394,diphthamide biosynthesis 5,285aa) | g.1:101458271G>A,c.556C>T,p.R186W |
| DPH3P1(NM_080750,diphthamide biosynthesis 3 pseudogene 1,78aa) | g.20:61477160C>T,c.145C>T,p.P49S |
| DPH3P1(NM_080750,diphthamide biosynthesis 3 pseudogene 1,78aa) | g.20:61477034G>A,c.19G>A,p.E7K |
| DPH2(NM_001384,DPH2 homolog (S. cerevisiae),489aa) | g.1:44438171G>A,c.1430G>A,p.R477Q |