| 基因名 | 突变 |
|---|---|
| GNAS(NM_001077490,GNAS complex locus,626aa) | g.20:57429627C>A,c.1120C>A,p.P374T |
| GNAS(NM_001077490,GNAS complex locus,626aa) | g.20:57429600C>A,c.1093C>A,p.P365T |
| GNAS(NM_001077490,GNAS complex locus,626aa) | g.20:57429447C>T,c.940C>T,p.R314W |
| GNAS(NM_001077490,GNAS complex locus,626aa) | g.20:57428948G>C,c.441G>C,p.R147S |
| GNAS(NM_001077490,GNAS complex locus,626aa) | g.20:57428947G>A,c.440G>A,p.R147K |
| GNAQ(NM_002072,guanine nucleotide binding protein (G protein), q polypeptide,359aa) | g.9:80430620C>T,c.388G>A,p.D130N |
| GNAL(NM_182978,guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type,458aa) | g.18:11868565G>A,c.934G>A,p.A312T |
| GNAL(NM_182978,guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type,458aa) | g.18:11753825A>G,c.505A>G,p.T169A |
| GNAL(NM_182978,guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type,458aa) | g.18:11689814G>A,c.252G>A,p.E84E |
| GNAL(NM_182978,guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type,458aa) | g.18:11689699G>A,c.137G>A,p.R46K |
| GNAL(NM_182978,guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type,458aa) | g.18:11689669C>T,c.107C>T,p.P36L |
| GNAL(NM_182978,guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type,458aa) | g.18:11689669_11689670insGGCCCT,c.107_108insGGCCCT,p.36ins2aa |
| GNAI2(NM_002070,guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2,355aa) | g.3:50295004C>G,c.950C>G,p.T317S |
| GNAI2(NM_002070,guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2,355aa) | g.3:50290531G>A,c.379G>A,p.V127I |
| GNAI2(NM_002070,guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2,355aa) | g.3:50289969C>T,c.302C>T,p.A101V |
| GNAI1(NM_002069,guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1,354aa) | g.7:79828617T>C,c.380T>C,p.I127T |
| GNAI1(NM_002069,guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1,354aa) | g.7:79818489T>C,c.245T>C,p.I82T |
| GNA15(NM_002068,guanine nucleotide binding protein (G protein), alpha 15 (Gq class),374aa) | g.19:3162842C>T,c.950C>T,p.T317M |
| GNA15(NM_002068,guanine nucleotide binding protein (G protein), alpha 15 (Gq class),374aa) | g.19:3151780G>A,c.561G>A,p.M187I |
| GNA15(NM_002068,guanine nucleotide binding protein (G protein), alpha 15 (Gq class),374aa) | g.19:3151723G>T,c.504G>T,p.E168D |
| GNA15(NM_002068,guanine nucleotide binding protein (G protein), alpha 15 (Gq class),374aa) | g.19:3150238A>G,c.440A>G,p.Y147C |
| GNA15(NM_002068,guanine nucleotide binding protein (G protein), alpha 15 (Gq class),374aa) | g.19:3150186C>T,c.388C>T,p.R130C |
| GNA15(NM_002068,guanine nucleotide binding protein (G protein), alpha 15 (Gq class),374aa) | g.19:3150139G>A,c.341G>A,p.S114N |
| GNA15(NM_002068,guanine nucleotide binding protein (G protein), alpha 15 (Gq class),374aa) | g.19:3150130A>T,c.332A>T,p.H111L |
| GNA15(NM_002068,guanine nucleotide binding protein (G protein), alpha 15 (Gq class),374aa) | g.19:3148679G>A,c.236G>A,p.R79Q |
| GNA14(NM_004297,guanine nucleotide binding protein (G protein), alpha 14,355aa) | g.9:80262613G>A,c.97C>T,p.R33C |
| GNA14(NM_004297,guanine nucleotide binding protein (G protein), alpha 14,355aa) | g.9:80144079G>A,c.215C>T,p.T72M |
| GNA14(NM_004297,guanine nucleotide binding protein (G protein), alpha 14,355aa) | g.9:80144047T>A,c.247A>T,p.M83L |