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Previously reported INSR mutations associated with Rabson–Mendenhall syndrome [5]
| No | INSR mutation |
|---|---|
| 1 | Pro193Leu Pro193Leu |
| 2 | Cys284Tyr Cys284Tyr |
| 3 | Ser323Leu Ser323Leu |
| 4 | Ile1116Thr Arg1131Trp |
| 5 | Pro970Thr Arg1131Trp |
| 6 | Arg1174Trp WT |
| 7 | Asn878Ser Ala1162Val |
| 8 | Cys159Phe Arg229Cys |
| 9 | Asn15Lys Arg1000X |
| 10 | Arg209His Gly359Ser |
| 11 | Arg86X Mu p.Asp261_Leu262insLeuHisLeuVal |
| 12 | IVS4-2A > G c.2480-2487del |
| 13 | Ile321Phe |
