RET mutations and their associated phenotypes1-150
| Exon | Codon No | Base pair change | Amino acid change | Phenotype |
|---|---|---|---|---|
| 10 | 609 | TGC to CGC | Cys to Arg | MEN 2A, FMTC |
| TGC to TAC | Cys to Tyr | MEN 2A | ||
| 611 | TGC to TAC | Cys to Tyr | MEN 2A | |
| TGC to TGG | Cys to Trp | MEN 2A, FMTC | ||
| TGC to GGC | Cys to Gly | FMTC | ||
| 618 | TGC to TTC | Cys to Phe | MEN 2A | |
| TGC to TCC | Cys to Ser | MEN 2A, FMTC | ||
| TGC to AGC | Cys to Ser | MEN 2A, FMTC | ||
| TGC to GGC | Cys to Gly | MEN 2A | ||
| TGC to CGC | Cys to Arg | MEN 2A, FMTC | ||
| TGC to TAC | Cys to Tyr | MEN 2A, FMTC | ||
| TGC to TGA | Cys to Stop | MEN 2A | ||
| 620 | TGC to CGC | Cys to Arg | MEN 2A, FMTC | |
| TGC to TAC | Cys to Tyr | MEN 2A | ||
| TGC to TTC | Cys to Phe | MEN 2A | ||
| TGC to TCC | Cys to Ser | MEN 2A | ||
| TGC to GGC | Cys to Gly | MEN 2A | ||
| 11 | 630 | TGC to TTC | Cys to Phe | FMTC |
| 634 | TGC to TAC | Cys to Tyr | MEN 2A, FMTC | |
| TGC to CGC | Cys to Arg | MEN 2A | ||
| TGC to TTC | Cys to Phe | MEN 2A, FMTC | ||
| TGC to GGC | Cys to Gly | MEN 2A | ||
| TGC to TGG | Cys to Trp | MEN 2A | ||
| TGC to AGC | Cys to Ser | MEN 2A | ||
| TGC to TCC | Cys to Ser | MEN 2A, FMTC | ||
| 13 | 768 | GAG to GAC | Glu to Asp | FMTC |
| 790 | TTG to TTT | Leu to Phe | MEN 2A, FMTC | |
| TTG to TTC | Leu to Phe | MEN 2A, FMTC | ||
| 791 | TAT to TTT | Tyr to Phe | FMTC | |
| 14 | 804 | GTG to TTG | Val to Leu | FMTC |
| GTG to ATG | Val to Met | |||
| 804 & 806 | 804- GTG to ATG | Val to Met | MEN 2B | |
| 806- TAC to TGC | Tyr to Cys | |||
| 15 | 883 | GCT to TTT | Ala to Phe | MEN 2B |
| 891 | TCG to GCG | Ser to Ala | FMTC | |
| 16 | 918 | ATG to ACG | Met to Thr | MEN 2B |
| Duplications | Base pair No | Inserted sequence | Amino acids inserted | Phenotype |
| 8 | 1741–1742 | ins GAG GAG TGT | EEC 531–532 | FMTC |
| 11 | 2056–2057 | ins TCG CGC ACG | CRT 636–637 | MEN 2A |
| 2049–2050 | ins ACG AGC TGT GCC | CRT 634–635 | MEN 2A |
↵1-150 Only mutations found in multiple independent families and/or for which functional significance has been confirmed are shown.