Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score | Literature evidence |
MTMR3 | 7451 | COSM33054, | breast | carcinoma | p.V221L | Substitution - Missense | 22:30002983-30002983, | PATHOGENIC | 0.99419 | 16959974 |
MTMR3 | 7451 | COSM142793, | skin | malignant_melanoma | p.S294F | Substitution - Missense | 22:30007904-30007904, | PATHOGENIC | 0.99086 | 19074898 |
MTMR3 | 7451 | COSM142797, | skin | malignant_melanoma | p.F516L | Substitution - Missense | 22:30016572-30016572, | PATHOGENIC | 0.98386 | 19074898 |
MTMR3 | 7451 | COSM142795, | skin | malignant_melanoma | p.L444F | Substitution - Missense | 22:30013368-30013368, | PATHOGENIC | 0.93982 | 19074898 |
MTMR3 | 7451 | COSM142799, | skin | malignant_melanoma | p.P1180L | Substitution - Missense | 22:30025743-30025743, | PATHOGENIC | 0.92016 | 19074898 |
MTMR3 | 7451 | COSM142791, | skin | malignant_melanoma | p.R279* | Substitution - Nonsense | 22:30007277-30007277, | PATHOGENIC | 0.80092 | 19074898 |
MTMR3 | 7451 | COSM33262, | breast | carcinoma | p.Q894fs*8 | Insertion - Frameshift | 22:30020339-30020340, | Info_not_available | Info_not_available | 16959974 |
MTMR3 | 7451 | COSM33262, | breast | carcinoma | p.Q894fs*8 | Insertion - Frameshift | 22:30020339-30020340, | Info_not_available | Info_not_available | Info_not_available |