| 基因名 | 突变 |
|---|---|
| GNB1L(NM_053004,guanine nucleotide binding protein (G protein), beta polypeptide 1-like,327aa) | g.22:19808769C>T,c.110G>A,p.R37H |
| GNB1L(NM_053004,guanine nucleotide binding protein (G protein), beta polypeptide 1-like,327aa) | g.22:19808167A>G,c.208T>C,p.C70R |
| GNB1L(NM_053004,guanine nucleotide binding protein (G protein), beta polypeptide 1-like,327aa) | g.22:19799963G>A,c.262C>T,p.R88W |
| GNB1L(NM_053004,guanine nucleotide binding protein (G protein), beta polypeptide 1-like,327aa) | g.22:19799875C>T,c.350G>A,p.R117Q |
| GNB1L(NM_053004,guanine nucleotide binding protein (G protein), beta polypeptide 1-like,327aa) | g.22:19789541A>C,c.715T>G,p.W239G |
| GNB1L(NM_053004,guanine nucleotide binding protein (G protein), beta polypeptide 1-like,327aa) | g.22:19776437G>A,c.779C>T,p.T260M |
| GNB1L(NM_053004,guanine nucleotide binding protein (G protein), beta polypeptide 1-like,327aa) | g.22:19776365G>A,c.851C>T,p.T284M |
| GNB1L(NM_053004,guanine nucleotide binding protein (G protein), beta polypeptide 1-like,327aa) | g.22:19776330C>T,c.886G>A,p.A296T |
| GNB1L(NM_053004,guanine nucleotide binding protein (G protein), beta polypeptide 1-like,327aa) | g.22:19776303C>T,c.913G>A,p.A305T |
| GNB1L(NM_053004,guanine nucleotide binding protein (G protein), beta polypeptide 1-like,327aa) | g.22:19776266C>T,c.950G>A,p.R317Q |
| GNB1L(NM_053004,guanine nucleotide binding protein (G protein), beta polypeptide 1-like,327aa) | g.22:19776240G>A,c.976C>T,p.R326C |
| GNAZ(NM_002073,guanine nucleotide binding protein (G protein), alpha z polypeptide,355aa) | g.22:23465418G>A,c.868G>A,p.E290K |
| GNAT3(NM_001102386,guanine nucleotide binding protein, alpha transducing 3,354aa) | g.7:80141152C>T,c.91G>A,p.A31T |
| GNAT3(NM_001102386,guanine nucleotide binding protein, alpha transducing 3,354aa) | g.7:80141137G>T,c.106C>A,p.L36M |
| GNAT3(NM_001102386,guanine nucleotide binding protein, alpha transducing 3,354aa) | g.7:80108305G>A,c.313C>T,p.R105X |
| GNAT3(NM_001102386,guanine nucleotide binding protein, alpha transducing 3,354aa) | g.7:80091826C>T,c.712G>A,p.E238K |
| GNAT3(NM_001102386,guanine nucleotide binding protein, alpha transducing 3,354aa) | g.7:80088014C>A,c.1038G>T,p.E346D |
| GNAT2(NM_005272,guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2,354aa) | g.1:110152708C>T,c.257G>A,p.R86Q |
| GNAT2(NM_005272,guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2,354aa) | g.1:110152685C>T,c.280G>A,p.D94N |
| GNAT2(NM_005272,guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2,354aa) | g.1:110151395G>T,c.319C>A,p.L107I |
| GNAT2(NM_005272,guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2,354aa) | g.1:110151344C>T,c.370G>A,p.V124M |
| GNAT2(NM_005272,guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2,354aa) | g.1:110148970T>C,c.550A>G,p.I184V |
| GNAT2(NM_005272,guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2,354aa) | g.1:110146145G>A,c.896C>T,p.A299V |
| GNAT1(NM_144499,guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1,350aa) | g.3:50231244G>A,c.508G>A,p.V170M |
| GNAT1(NM_144499,guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1,350aa) | g.3:50229246G>A,c.88G>A,p.V30M |
| GNAS(NM_001077490,GNAS complex locus,626aa) | g.20:57430118C>G,c.1611C>G,p.A537A |
| GNAS(NM_001077490,GNAS complex locus,626aa) | g.20:57429775C>A,c.1268C>A,p.P423H |
| GNAS(NM_001077490,GNAS complex locus,626aa) | g.20:57429696C>G,c.1189C>G,p.L397V |