| Variants reported in patients with CDC73-related disease . | ||
|---|---|---|
| Genotype . | Phenotype . | Reference . |
| c.131+1G>A | FIHP | Cetani et al.22 Bradley et al.23 |
| c.132-2A>G | FIHP | No citation exists |
| c.237+1G>C | FIHP | Villablanca et al.24 |
| c.238-2A>T | Undisclosed by submitter | No citation exists |
| c.238-1G>A | HPT-JT | Moon et al.25 |
| c.307+1G>A | FIHP | Kong et al.46 |
| c.423+1G>A | HPT-JT | Li et al.8 |
| c.1155-3A>G | HPT-JT | Present study |
| Variants not yet observed in patients with CDC73-related disease | ||
| Genotype | ||
| c.131+1del | ||
| c.131+1G>T | ||
| c.132-2A>C | ||
| c.237_237+1insA | ||
| c.237+1G>A | ||
| c.237+1G>T | ||
| c.238-1G>T | ||
| c.513-1G>A | ||
| c.729+1G>T | ||
| c.1030+1G>A | ||
| c.1030+2T>C | ||
| c.1067-2_1069del | ||
| c.1067-2A>G | ||
| c.1316+1del | ||
| Variants reported in patients with CDC73-related disease . | ||
|---|---|---|
| Genotype . | Phenotype . | Reference . |
| c.131+1G>A | FIHP | Cetani et al.22 Bradley et al.23 |
| c.132-2A>G | FIHP | No citation exists |
| c.237+1G>C | FIHP | Villablanca et al.24 |
| c.238-2A>T | Undisclosed by submitter | No citation exists |
| c.238-1G>A | HPT-JT | Moon et al.25 |
| c.307+1G>A | FIHP | Kong et al.46 |
| c.423+1G>A | HPT-JT | Li et al.8 |
| c.1155-3A>G | HPT-JT | Present study |
| Variants not yet observed in patients with CDC73-related disease | ||
| Genotype | ||
| c.131+1del | ||
| c.131+1G>T | ||
| c.132-2A>C | ||
| c.237_237+1insA | ||
| c.237+1G>A | ||
| c.237+1G>T | ||
| c.238-1G>T | ||
| c.513-1G>A | ||
| c.729+1G>T | ||
| c.1030+1G>A | ||
| c.1030+2T>C | ||
| c.1067-2_1069del | ||
| c.1067-2A>G | ||
| c.1316+1del | ||
Abbreviations: FIHP, familial isolated hyperparathyroidism; HPT-JT, hyperparathyroidism-jaw tumor.
| Variants reported in patients with CDC73-related disease . | ||
|---|---|---|
| Genotype . | Phenotype . | Reference . |
| c.131+1G>A | FIHP | Cetani et al.22 Bradley et al.23 |
| c.132-2A>G | FIHP | No citation exists |
| c.237+1G>C | FIHP | Villablanca et al.24 |
| c.238-2A>T | Undisclosed by submitter | No citation exists |
| c.238-1G>A | HPT-JT | Moon et al.25 |
| c.307+1G>A | FIHP | Kong et al.46 |
| c.423+1G>A | HPT-JT | Li et al.8 |
| c.1155-3A>G | HPT-JT | Present study |
| Variants not yet observed in patients with CDC73-related disease | ||
| Genotype | ||
| c.131+1del | ||
| c.131+1G>T | ||
| c.132-2A>C | ||
| c.237_237+1insA | ||
| c.237+1G>A | ||
| c.237+1G>T | ||
| c.238-1G>T | ||
| c.513-1G>A | ||
| c.729+1G>T | ||
| c.1030+1G>A | ||
| c.1030+2T>C | ||
| c.1067-2_1069del | ||
| c.1067-2A>G | ||
| c.1316+1del | ||
| Variants reported in patients with CDC73-related disease . | ||
|---|---|---|
| Genotype . | Phenotype . | Reference . |
| c.131+1G>A | FIHP | Cetani et al.22 Bradley et al.23 |
| c.132-2A>G | FIHP | No citation exists |
| c.237+1G>C | FIHP | Villablanca et al.24 |
| c.238-2A>T | Undisclosed by submitter | No citation exists |
| c.238-1G>A | HPT-JT | Moon et al.25 |
| c.307+1G>A | FIHP | Kong et al.46 |
| c.423+1G>A | HPT-JT | Li et al.8 |
| c.1155-3A>G | HPT-JT | Present study |
| Variants not yet observed in patients with CDC73-related disease | ||
| Genotype | ||
| c.131+1del | ||
| c.131+1G>T | ||
| c.132-2A>C | ||
| c.237_237+1insA | ||
| c.237+1G>A | ||
| c.237+1G>T | ||
| c.238-1G>T | ||
| c.513-1G>A | ||
| c.729+1G>T | ||
| c.1030+1G>A | ||
| c.1030+2T>C | ||
| c.1067-2_1069del | ||
| c.1067-2A>G | ||
| c.1316+1del | ||
Abbreviations: FIHP, familial isolated hyperparathyroidism; HPT-JT, hyperparathyroidism-jaw tumor.
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