Table 6.
Disease-causing mutations in the IGF1R
| Mutation | Population variant | ExAC prevalencea |
|---|---|---|
| R40L | None | – |
| R89stop | None | – |
| E121K | None | – |
| R138Q | R138L | 1 allele |
| A140stop | None | – |
| K145N | None | – |
| E234K | None | – |
| Y387stop | None | – |
| R461L | R461L, R461H | 1, 4 alleles |
| R511W | R511W, R511Q | 1, 174 alleles |
| Y517F | None | – |
| S621L | None | – |
| V629E | V629L, V629M | 1, 1 allele |
| R739Q | None | – |
| E1046Kb | E1046K | 1 allele |
| M1123Rstop | None | – |
| G1155A | None | – |
| 3348_3366 dup19 | None | – |
a The dash represents no alleles identified with that variant.
b Listed incorrectly as E1050K in ExAC.