Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score | Literature evidence |
NT5C2 | 8022 | COSM5879156, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.? | Unknown | 10:103101327-103101327, | PATHOGENIC | 0.9976 | 27288520 |
NT5C2 | 8022 | COSM4166190, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.D407A | Substitution - Missense | 10:103090988-103090988, | PATHOGENIC | 0.9967 | 23377281 |
NT5C2 | 8022 | COSM4166191, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Q523* | Substitution - Nonsense | 10:103089791-103089791, | PATHOGENIC | 0.99523 | 23377281 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377281 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377281 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377281 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377281 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377281 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377183 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377281 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377281 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377281 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377281 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377281 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377281 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377281 |
NT5C2 | 8022 | COSM914303, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R367Q | Substitution - Missense | 10:103093198-103093198, | PATHOGENIC | 0.9885 | 23377281 |
NT5C2 | 8022 | COSM4166188, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R238L | Substitution - Missense | 10:103097349-103097349, | PATHOGENIC | 0.98715 | 23377281 |
NT5C2 | 8022 | COSM4166465, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.S408R | Substitution - Missense | 10:103090984-103090984, | PATHOGENIC | 0.98456 | 23377183 |
NT5C2 | 8022 | COSM2059676, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R238W | Substitution - Missense | 10:103097350-103097350, | PATHOGENIC | 0.98255 | 23377281 |
NT5C2 | 8022 | COSM2059676, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R238W | Substitution - Missense | 10:103097350-103097350, | PATHOGENIC | 0.98255 | 23377183 |
NT5C2 | 8022 | COSM2059676, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R238W | Substitution - Missense | 10:103097350-103097350, | PATHOGENIC | 0.98255 | 23377281 |
NT5C2 | 8022 | COSM2059676, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R238W | Substitution - Missense | 10:103097350-103097350, | PATHOGENIC | 0.98255 | 23377281 |
NT5C2 | 8022 | COSM2059676, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R238W | Substitution - Missense | 10:103097350-103097350, | PATHOGENIC | 0.98255 | 23377183 |
NT5C2 | 8022 | COSM2059676, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R238W | Substitution - Missense | 10:103097350-103097350, | PATHOGENIC | 0.98255 | 23377281 |
NT5C2 | 8022 | COSM4166192, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L375F | Substitution - Missense | 10:103093175-103093175, | PATHOGENIC | 0.97258 | 23377281 |
NT5C2 | 8022 | COSM4166192, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.L375F | Substitution - Missense | 10:103093175-103093175, | PATHOGENIC | 0.97258 | 23377281 |
NT5C2 | 8022 | COSM4166189, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.R291W | Substitution - Missense | 10:103094398-103094398, | PATHOGENIC | 0.96244 | 23377281 |
NT5C2 | 8022 | COSM4166467, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.K404_H405insD | Insertion - In frame | Info_not_available | Info_not_available | Info_not_available | 23377183 |