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| Type of mutation | HGVS (cDNA) | HGVS (protein) | Homeodomain affected | Phenotypea | Number of patients | References |
|---|---|---|---|---|---|---|
| Nonsense | c.332C>A | p.(S111*) | Yes | 4-12;CL/P | 8 | 43 |
| Nonsense | c.583C>T | p.(Q195*) | Yes | 14;CL/P | 2 | 16 |
| Nonsense | c.623C>A | p.(S208*) | Yes | 7-24;Witkop | 8 | 9 |
| Entire gene deletion | / | / | Yes | 11-21;Wolf-Hirschhorn | 5 | 10 |
Numbers represent the range of missing teeth, third molars excluded; CL/P, cleft lip with or without palate.
