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Recurrence of pathogenic INF2 DID mutations
| Mutation | Number of cases | % |
|---|---|---|
| R218Q | 14 | 10.1 |
| E220K | 11 | 8.0 |
| E184K | 8 | 5.8 |
| R214H | 6 | 4.4 |
| R177H | 5 | 3.6 |
| R214C | 5 | 3.6 |
| R218W | 5 | 3.6 |
| C151R | 4 | 2.9 |
| R177C | 4 | 2.9 |
| L42P | 3 | 2.2 |
| R106P | 3 | 2.2 |
| G114D | 3 | 2.2 |
| L128P | 3 | 2.2 |
| V181G | 3 | 2.2 |
| G73S | 2 | 1.5 |
| L77R | 2 | 1.5 |
| C104W | 2 | 1.5 |
| L132R | 2 | 1.5 |
| A164_D166del | 2 | 1.5 |
| S186P | 2 | 1.5 |
| L198R | 2 | 1.5 |
| S263A | 2 | 1.5 |
| All other mutations | 1 | 0.7 |
