| Genename | Variants |
|---|---|
| GNGT1(NM_021955,guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1,74aa) | g.7:93540153G>C,c.148G>C,p.E50Q |
| GNGT1(NM_021955,guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1,74aa) | g.7:93540153G>A,c.148G>A,p.E50K |
| GNG8(NM_033258,guanine nucleotide binding protein (G protein), gamma 8,70aa) | g.19:47137864G>A,c.76C>T,p.R26C |
| GNG13(NM_016541,guanine nucleotide binding protein (G protein), gamma 13,67aa) | g.16:848809G>C,c.114C>G,p.I38M |
| GNG13(NM_016541,guanine nucleotide binding protein (G protein), gamma 13,67aa) | g.16:848802C>T,c.121G>A,p.G41R |
| GNG12(NM_018841,guanine nucleotide binding protein (G protein), gamma 12,72aa) | g.1:68171235T>C,c.118A>G,p.M40V |
| GNG10(NM_001017998,guanine nucleotide binding protein (G protein), gamma 10,68aa) | g.9:114423924G>A,c.10G>A,p.G4R |
| GNE(NM_005476,glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase,722aa) | g.9:36246117T>A,c.527A>T,p.D176V |
| GNE(NM_005476,glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase,722aa) | g.9:36236861C>T,c.737G>A,p.R246Q |
| GNE(NM_005476,glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase,722aa) | g.9:36222965C>T,c.1442G>A,p.R481Q |
| GNE(NM_005476,glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase,722aa) | g.9:36217445C>T,c.2086G>A,p.V696M |
| GNE(NM_005476,glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase,722aa) | g.9:36217396A>G,c.2135T>C,p.M712T |
| GNB5(NM_016194,guanine nucleotide binding protein (G protein), beta 5,395aa) | g.15:52472036G>A,c.167C>T,p.S56L |
| GNB5(NM_016194,guanine nucleotide binding protein (G protein), beta 5,395aa) | g.15:52433368G>A,c.596C>T,p.S199L |
| GNB5(NM_016194,guanine nucleotide binding protein (G protein), beta 5,395aa) | g.15:52427869C>T,c.712G>A,p.A238T |
| GNB5(NM_016194,guanine nucleotide binding protein (G protein), beta 5,395aa) | g.15:52420394G>T,c.911C>A,p.T304K |
| GNB4(NM_021629,guanine nucleotide binding protein (G protein), beta polypeptide 4,340aa) | g.3:179119066C>T,c.958G>A,p.V320I |
| GNB3(NM_002075,guanine nucleotide binding protein (G protein), beta polypeptide 3,340aa) | g.12:6954888C>T,c.838C>T,p.L280F |
| GNB3(NM_002075,guanine nucleotide binding protein (G protein), beta polypeptide 3,340aa) | g.12:6954875C>T,c.825C>T,p.S275S |
| GNB3(NM_002075,guanine nucleotide binding protein (G protein), beta polypeptide 3,340aa) | g.12:6954864G>A,c.814G>A,p.G272S |
| GNB3(NM_002075,guanine nucleotide binding protein (G protein), beta polypeptide 3,340aa) | g.12:6954849G>A,c.799G>A,p.E267K |
| GNB3(NM_002075,guanine nucleotide binding protein (G protein), beta polypeptide 3,340aa) | g.12:6952645G>A,c.386G>A,p.R129H |
| GNB3(NM_002075,guanine nucleotide binding protein (G protein), beta polypeptide 3,340aa) | g.12:6952397A>C,c.263A>C,p.N88T |
| GNB3(NM_002075,guanine nucleotide binding protein (G protein), beta polypeptide 3,340aa) | g.12:6952182C>T,c.145C>T,p.R49W |
| GNB3(NM_002075,guanine nucleotide binding protein (G protein), beta polypeptide 3,340aa) | g.12:6950474G>A,c.23G>A,p.R8H |
| GNB2(NM_005273,guanine nucleotide binding protein (G protein), beta polypeptide 2,340aa) | g.7:100274423_100274424del,c.203+1del,p.68Donordel |
| GNB1L(NM_053004,guanine nucleotide binding protein (G protein), beta polypeptide 1-like,327aa) | g.22:19808874G>A,c.5C>T,p.T2M |
| GNB1L(NM_053004,guanine nucleotide binding protein (G protein), beta polypeptide 1-like,327aa) | g.22:19808805G>A,c.74C>T,p.A25V |