Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score![]() | Literature evidence |
RBL2 | 9894 | COSM48739, | lung | carcinoma | p.P168L | Substitution - Missense | 16:53442789-53442789, | PATHOGENIC | 0.9856 | 18948947 |
RBL2 | 9894 | COSM314708, | lung | carcinoma | p.F174L | Substitution - Missense | 16:53442806-53442806, | PATHOGENIC | 0.98415 | 22941188 |
RBL2 | 9894 | COSM1166682, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.S1035Y | Substitution - Missense | 16:53481690-53481690, | PATHOGENIC | 0.97587 | 22976956 |
RBL2 | 9894 | COSM971472, | soft_tissue | haemangioblastoma | p.R1093C | Substitution - Missense | 16:53490157-53490157, | PATHOGENIC | 0.86459 | 25589003 |
RBL2 | 9894 | COSM48740, | lung | carcinoma | p.R367K | Substitution - Missense | 16:53454763-53454763, | PATHOGENIC | 0.71859 | 18948947 |
RBL2 | 9894 | COSM314707, | lung | carcinoma | p.D576_K584>E | Complex - deletion inframe | 16:53465466-53465489, | Info_not_available | Info_not_available | 22941188 |