Table 2.
Summary of AVPR2 mutations reported in this study
| Gene | Type | Mutation | Frequency |
| AVPR2 | Complete deletion | – | 2 |
| Splicing | Intron 2† | 1 | |
| Missense | A37P§ | 1 | |
| L44F | 1 | ||
| D85N | 7 | ||
| V88M | 1 | ||
| R104C | 2 | ||
| R106C | 5 | ||
| G107E | 1 | ||
| G107R§ | 1 | ||
| R113W | 1 | ||
| Y128S | 2 | ||
| W164R | 1 | ||
| P178L§ | 1 | ||
| R181C | 2 | ||
| R202C | 3 | ||
| P286S | 1 | ||
| N317K | 1 | ||
| P322S | 2 | ||
| S329G | 1 | ||
| L336P§ | 1 | ||
| Nonsense | W99X§ | 2 | |
| W156X§ | 1 | ||
| L161X | 1 | ||
| W200X | 1 | ||
| R337X | 1 | ||
| Deletion | c.528delG§ | 1 | |
| V278del§ | 1 | ||
| S333del | 1 | ||
| c.727-728delAG | 1 | ||
| 5’UTR-AVPR2 DEL 32,787 | 2 | ||
| Others | 3 | ||
| Insertion | c.299 300insA§ | 1 | |
| c.498 499insTC (L168RfsX45)§ | 1 | ||
| c.855 856insCGCA§ | 1 | ||
| Frameshift | L35fs.§ | 1 | |
| Unknown‡ | – | 8 |
AVPR2, arginine vasopressin receptor type 2.
†Splice acceptor AG ARROW CG.
‡There was a mutation but detail was unknown.
§Novel mutation.