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Germline missense and in‐frame deletions identified only in patients with familial isolated hyperparathyroidism (FIHP) or sporadic parathyroid tumor
| Phenotype | Germline mutation | Exon |
|---|---|---|
| FIHP | D153V | 3 |
| V184E | 3 | |
| T197I | 3 | |
| E255K | 4 | |
| Q260P | 4 | |
| L267P | 5 | |
| P277H | 6 | |
| G305D | 7 | |
| Y353del | 8 | |
| A411P | 9 | |
| L414del | 9 | |
| Sporadic parathyroid tumor | R171W | 3 |
| S253W | 4 | |
| E274A | 5 | |
| E366D | 8 |
