| 基因名 | 突变 |
|---|---|
| PTK2B(NM_173174,protein tyrosine kinase 2 beta,1009aa) | g.8:27255130G>A,c.29G>A,p.R10Q |
| PTH(NM_000315,parathyroid hormone,115aa) | g.11:13514104C>T,c.196G>A,p.V66I |
| PTHLH(NM_002820,parathyroid hormone-like hormone,175aa) | g.12:28116544G>T,c.261C>A,p.N87K |
| PTHLH(NM_002820,parathyroid hormone-like hormone,175aa) | g.12:28116358G>C,c.447C>G,p.D149E |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209358262G>A,c.1531G>A,p.E511K |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209358098C>T,c.1367C>T,p.T456M |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209358076G>A,c.1345G>A,p.G449S |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209358043A>G,c.1312A>G,p.K438E |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209358034G>A,c.1303G>A,p.V435M |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209345862T>C,c.1049T>C,p.V350A |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209308236G>T,c.673G>T,p.A225S |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209308102A>T,c.539A>T,p.H180L |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209307161G>T,c.484G>T,p.A162S |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209307104C>T,c.427C>T,p.R143C |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209302553G>A,c.358G>A,p.A120T |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209302487G>A,c.292G>A,p.V98I |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209302328C>A,c.245C>A,p.S82X |
| PTH2R(NM_005048,parathyroid hormone 2 receptor,550aa) | g.2:209271796G>A,c.28G>A,p.V10I |
| PTH2(NM_178449,parathyroid hormone 2,100aa) | g.19:49926533G>C,c.64C>G,p.L22V |
| PTH2(NM_178449,parathyroid hormone 2,100aa) | g.19:49926530C>G,c.67G>C,p.V23L |
| PTH2(NM_178449,parathyroid hormone 2,100aa) | g.19:49925853G>A,c.175C>T,p.P59S |
| PTH1R(NM_000316,parathyroid hormone 1 receptor,593aa) | g.3:46945060G>A,c.1696G>A,p.G566S |
| PTH1R(NM_000316,parathyroid hormone 1 receptor,593aa) | g.3:46945000G>A,c.1636G>A,p.E546K |
| PTH1R(NM_000316,parathyroid hormone 1 receptor,593aa) | g.3:46942966T>C,c.1112T>C,p.I371T |
| PTH1R(NM_000316,parathyroid hormone 1 receptor,593aa) | g.3:46939666A>G,c.527A>G,p.N176S |
| PTH1R(NM_000316,parathyroid hormone 1 receptor,593aa) | g.3:46939587C>T,c.448C>T,p.R150C |
| PTH1R(NM_000316,parathyroid hormone 1 receptor,593aa) | g.3:46939348G>A,c.317G>A,p.R106H |
| PTH1R(NM_000316,parathyroid hormone 1 receptor,593aa) | g.3:46937345G>A,c.299G>A,p.G100D |