Table 2.
Summary of Identified TSHR Gene Mutations
| DNA | Protein | Exon | No. of alleles | Reference |
|---|---|---|---|---|
| c.202C > T | p.P68S | 2 | 5 | 10 |
| c.269A > C | p.Q90P | 3 | 6 | 11 |
| c.484C > G | p.P162A | 6 | 6 | 3 |
| c.790C > T | p.P264S | 9 | 6 | 11 |
| c.1957C > G | p.L653V | 10 | 23 | 10 |
| c.1348C > T | p.R450C | 10 | 2 | Novel |