| 基因名 | 突变 |
|---|---|
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31018852T>C,c.1265T>C,p.M422T |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31016145C>T,c.1076C>T,p.P359L |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31014599G>A,c.826G>A,p.D276N |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31013743C>T,c.741C>T,p.L247L |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31013675G>A,c.673G>A,p.V225I |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31011603G>A,c.490G>A,p.V164I |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31011602C>T,c.489C>T,p.Y163Y |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31011589_31011590insC,c.476_477insC,p.159fs |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31010770G>A,c.403G>A,p.V135M |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31009576G>T,c.363G>T,p.E121D |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31009485C>T,c.272C>T,p.A91V |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31008717C>T,c.200C>T,p.T67M |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31008686G>A,c.169G>A,p.A57T |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31003730C>T,c.47C>T,p.P16L |
| GHRHR(NM_000823,growth hormone releasing hormone receptor,423aa) | g.7:31003693C>T,c.10C>T,p.R4W |
| GHRH(NM_021081,growth hormone releasing hormone,108aa) | g.20:35882698G>A,c.223C>T,p.L75F |
| GHITM(NM_014394,growth hormone inducible transmembrane protein,345aa) | g.10:85912039G>A,c.973G>A,p.D325N |
| GHITM(NM_014394,growth hormone inducible transmembrane protein,345aa) | g.10:85904732C>T,c.443C>T,p.T148M |
| GHDC(NM_001142623,GH3 domain containing,474aa) | g.17:40344516A>G,c.632T>C,p.L211S |
| GHDC(NM_001142623,GH3 domain containing,474aa) | g.17:40344442G>A,c.706C>T,p.R236W |
| GHDC(NM_001142623,GH3 domain containing,474aa) | g.17:40344303_40344305del,c.843_845del,p.281_282del |
| GHDC(NM_001142623,GH3 domain containing,474aa) | g.17:40342868A>C,c.1136T>G,p.V379G |
| GHDC(NM_001142623,GH3 domain containing,474aa) | g.17:40342753G>A,c.1177C>T,p.R393X |
| GHDC(NM_001142623,GH3 domain containing,474aa) | g.17:40342246G>A,c.1420C>T,p.R474C |
| GH2(NM_022557,growth hormone 2,256aa) | g.17:61958280C>T,c.308G>A,p.R103H |
| GH2(NM_022557,growth hormone 2,256aa) | g.17:61957990G>A,c.598C>T,p.P200S |
| GH2(NM_022557,growth hormone 2,256aa) | g.17:61957946C>T,c.642G>A,p.W214X |
| GH2(NM_022557,growth hormone 2,256aa) | g.17:61957867A>G,c.721T>C,p.W241R |