| Genename | Variants |
|---|---|
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:42034996C>T,c.4838C>T,p.T1613I |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:42034758C>T,c.4600C>T,p.P1534S |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:42032383C>G,c.4567C>G,p.P1523A |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:42028820A>G,c.4358A>G,p.Y1453C |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:42021512T>C,c.3808T>C,p.C1270R |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:42019504T>C,c.3557T>C,p.L1186S |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:42003464T>G,c.3001T>G,p.C1001G |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:41991315A>T,c.2146A>T,p.T716S |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:41991300A>T,c.2131A>T,p.I711L |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:41991063A>T,c.2016A>T,p.E672D |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:41989091C>A,c.1883C>A,p.P628Q |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:41989025C>T,c.1817C>T,p.A606V |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:41989003G>A,c.1795G>A,p.V599I |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:41988834A>T,c.1626A>T,p.K542N |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:41988551G>C,c.1343G>C,p.S448T |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:41962104A>G,c.1012A>G,p.T338A |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:41962080C>G,c.988C>G,p.R330G |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:41962051G>A,c.959G>A,p.G320D |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:41961174T>G,c.82T>G,p.L28V |
| MGA(NM_001164273,MGA, MAX dimerization protein,3065aa) | g.15:41961113T>G,c.21T>G,p.I7M |
| MGAM(NM_004668,maltase-glucoamylase (alpha-glucosidase),1857aa) | g.7:141805672C>T,c.5555C>T,p.T1852M |
| MGAM(NM_004668,maltase-glucoamylase (alpha-glucosidase),1857aa) | g.7:141799485C>T,c.5134C>T,p.R1712C |
| MGAM(NM_004668,maltase-glucoamylase (alpha-glucosidase),1857aa) | g.7:141795506C>A,c.4912C>A,p.L1638I |
| MGAM(NM_004668,maltase-glucoamylase (alpha-glucosidase),1857aa) | g.7:141795404A>G,c.4810A>G,p.I1604V |
| MGAM(NM_004668,maltase-glucoamylase (alpha-glucosidase),1857aa) | g.7:141765161G>A,c.4511G>A,p.R1504Q |
| MGAM(NM_004668,maltase-glucoamylase (alpha-glucosidase),1857aa) | g.7:141763311C>A,c.4270C>A,p.P1424T |
| MGAM(NM_004668,maltase-glucoamylase (alpha-glucosidase),1857aa) | g.7:141760174G>T,c.4122+1G>T,p.1374Donor |
| MGAM(NM_004668,maltase-glucoamylase (alpha-glucosidase),1857aa) | g.7:141759282A>G,c.3830A>G,p.Y1277C |