| Gene | Substitution | Number of affected people | Parental analysis | Number of negative controls tested | Pathogenic mutation affecting the same residue | Interspecies conservation† | PolyPhen prediction | Conclusion | |
| This study | Literature* | ||||||||
| BRAF | T241P | 1 | De novo | 200 | 155 | Yes | Probably damaging | Mutation | |
| Q262R | 1 | Absent in mother | 200 | 155 | S in Drosophila | Benign | Mutation (probable) | ||
| G464R | 1 | – | 200 | Yes | Probably damaging | Mutation (probable) | |||
| E501V | 1 | – | 200 | 105 | E501G, E501K | Yes | Probably damaging | Mutation (probable) | |
| N581K | 1 | De novo | – | – | Yes | Probably damaging | Mutation | ||
| MEK1 | E44G | 1 | Mutated in asymptomatic mother | 200 | – | T in Drosophila | Possibly damaging | Possible rare polymorphism | |
| T55P | 1 | – | 200 | – | S in Drosophila | Possibly damaging | Mutation (probable) | ||
| D67N | 3 | De novo (2 patients) | 200 | – | Yes | Benign | Mutation | ||
| MEK2 | L46_E55del | 1 | De novo | 200 | 50 | – | – | Mutation | |
| K61T | 1 | De novo | 200 | 50 | K61E | Yes | Benign | Mutation | |
| A62P | 2 | De novo (2 patients) | 200 | 50 | E in C elegans | Benign | Mutation | ||
| KRAS | K5E | 1 | – | 200 | >500 | Yes | Probably damaging | Mutation | |
| G12S | 1 | Absent in mother | 200 | >500 | Somatic G12S | Yes | Benign | Mutation | |
*BRAF, MEK1 and MEK2 negative controls were tested in Niihori et al13 Norumi et al.20
†When orthologous genes were present, the human sequence was compared with that of Mus musculus, Rattus norvegicus, Danio rerio, Drosophila melanogaster and Caenorhabditiselegans.