| 基因名 | 突变 |
|---|---|
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102179909A>C,c.452T>G,p.L151R |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102179792T>C,c.569A>G,p.D190G |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102173951_102173952insT,c.749_750insA,p.250fs |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102164207G>A,c.1090C>T,p.R364X |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102160048A>G,c.1433T>C,p.I478T |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102158945G>T,c.1750C>A,p.P584T |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102158833T>C,c.1862A>G,p.N621S |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102158766A>C,c.1929T>G,p.S643S |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102158445_102158446insT,c.2249_2250insA,p.750fs |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102158113C>T,c.2582G>A,p.R861K |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102158084C>T,c.2611G>A,p.G871S |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102158002del,c.2693del,p.898fs |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102158001_102158002insT,c.2693_2694insA,p.898fs |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102157979C>T,c.2715+1G>A,p.905Donor |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102147154C>T,c.3598G>A,p.E1200K |
| GNPTAB(NM_024312,N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits,1256aa) | g.12:102141003C>T,c.3710G>A,p.R1237Q |
| GNPNAT1(NM_198066,glucosamine-phosphate N-acetyltransferase 1,184aa) | g.14:53245082A>C,c.502T>G,p.F168V |
| GNPNAT1(NM_198066,glucosamine-phosphate N-acetyltransferase 1,184aa) | g.14:53245045C>T,c.539G>A,p.R180Q |
| GNPDA2(NM_138335,glucosamine-6-phosphate deaminase 2,276aa) | g.4:44724158G>A,c.67C>T,p.R23C |
| GNPAT(NM_014236,glyceronephosphate O-acyltransferase,680aa) | g.1:231408091A>G,c.1556A>G,p.D519G |
| GNPAT(NM_014236,glyceronephosphate O-acyltransferase,680aa) | g.1:231406710G>A,c.1486G>A,p.A496T |
| GNPAT(NM_014236,glyceronephosphate O-acyltransferase,680aa) | g.1:231406707G>A,c.1483G>A,p.V495I |
| GNPAT(NM_014236,glyceronephosphate O-acyltransferase,680aa) | g.1:231396302G>C,c.311G>C,p.S104T |
| GNMT(NM_018960,glycine N-methyltransferase,295aa) | g.6:42931340G>A,c.784G>A,p.G262R |
| GNMT(NM_018960,glycine N-methyltransferase,295aa) | g.6:42931339C>G,c.783C>G,p.F261L |
| GNMT(NM_018960,glycine N-methyltransferase,295aa) | g.6:42931281G>A,c.725G>A,p.R242Q |
| GNLY(NM_012483,granulysin,130aa) | g.2:85924746G>A,c.328G>A,p.G110R |
| GNLY(NM_012483,granulysin,130aa) | g.2:85924729C>T,c.311C>T,p.T104I |