| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7307 |
Name | U2AF1 |
Synonymous | FP793|RN|RNU2AF1|U2AF35|U2AFBP;U2 small nuclear RNA auxiliary factor 1;U2AF1;U2 small nuclear RNA auxiliary factor 1 |
Definition | U2 small nuclear RNA auxillary factor 1|U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunit|U2 snRNP auxiliary factor small subunit|U2(RNU2) small nuclear RNA auxiliary factor binding protein|splicing factor U2AF 35 kDa subunit|splicing fac |
Position | 21q22.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for U2AF1 | ||
PCGP somatic mutation [Top] | ||
There is no record for U2AF1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.R156H; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.101C>A; p.S34Y; 21:43397525-43397525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157fs; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.R156H; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>A; p.S34Y; 21:43397525-43397525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm |
c.101C>A; p.S34Y; 21:43397525-43397525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?_?del?; p.E159fs; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.R156Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.470A>C; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.101C>A; p.S34Y; 21:43397525-43397525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.104G>T; p.R35L; 21:43397522-43397522 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.470A>C; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.470A>C; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1_723del723; p.0?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.470A>C; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.470A>G; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>A; p.S34Y; 21:43397525-43397525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.470A>C; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.470A>C; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R156Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable |
c.470A>C; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.470A>C; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia |
c.476_477insGTATGA; p.E159_M160insYE; 21:43387839-43387840 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>A; p.S34Y; 21:43397525-43397525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.470A>C; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.101C>A; p.S34Y; 21:43397525-43397525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.470A>G; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.101C>A; p.S34Y; 21:43397525-43397525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.101C>A; p.S34Y; 21:43397525-43397525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.470A>C; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>A; p.S34Y; 21:43397525-43397525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>A; p.S34Y; 21:43397525-43397525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.R156H; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.Q157G; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.467G>A; p.R156H; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S34Y; |
ovary | low_malignant_potential_(borderline)_tumour; mucinous |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dentritic_cell_neoplasm |
c.641G>A; p.G214D; 21:43386363-43386363 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.E159A; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.S34Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.?; p.E159_M160insYE; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis |
c.101C>T; p.S34F; |
liver | carcinoma; hepatocellular_carcinoma |
c.371A>G; p.E124G; |
NS | NS |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.477_478insTATGAG; p.E159_M160insYE; |
NS | NS |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.199+8C>T; p.?; |
NS | malignant_melanoma |
c.199+8C>T; p.?; |
NS | malignant_melanoma |
c.?; p.R156H; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.563G>A; p.R188H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.686G>A; p.R229K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.101C>T; p.S34F; |
stomach | carcinoma; intestinal_adenocarcinoma |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>A; p.S34Y; 21:43397525-43397525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.470A>G; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.470A>G; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.470A>G; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.101C>T; p.S34F; |
lung | carcinoma; adenocarcinoma |
c.605G>A; p.R202H; |
liver | carcinoma |
c.101C>T; p.S34F; |
liver | carcinoma |
c.605G>A; p.R202H; |
liver | carcinoma |
c.101C>A; p.S34Y; 21:43397525-43397525 |
lung | carcinoma; adenocarcinoma |
c.649_650GG>TA; p.G217>?; |
lung | carcinoma; adenocarcinoma |
c.101C>T; p.S34F; |
lung | carcinoma; adenocarcinoma |
c.101C>T; p.S34F; |
lung | carcinoma; adenocarcinoma |
c.720C>T; p.F240F; |
lung | carcinoma; adenocarcinoma |
c.101C>T; p.S34F; |
lung | carcinoma; adenocarcinoma |
c.101C>T; p.S34F; |
lung | carcinoma; adenocarcinoma |
c.416C>T; p.P139L; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.470A>G; p.Q157R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.77C>T; p.A26V; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.470A>C; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.573G>T; p.K191N; |
skin; trunk | malignant_melanoma |
c.692C>T; p.S231L; |
autonomic_ganglia | neuroblastoma |
c.24C>T; p.I8I; |
breast | carcinoma |
c.41A>G; p.D14G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.101C>T; p.S34F; |
lung | carcinoma; adenocarcinoma |
c.101C>T; p.S34F; |
lung | carcinoma; adenocarcinoma |
c.101C>T; p.S34F; |
lung | carcinoma; adenocarcinoma |
c.101C>T; p.S34F; |
lung | carcinoma; adenocarcinoma |
c.101C>T; p.S34F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.101C>T; p.S34F; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.101C>T; p.S34F; |
lung | carcinoma; adenocarcinoma |
c.101C>T; p.S34F; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.552G>C; p.E184D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.470A>C; p.Q157P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.101C>T; p.S34F; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.593G>A; p.R198Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.71T>C; p.I24T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.700C>T; p.R234C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.692C>T; p.S231L; |
prostate | carcinoma; adenocarcinoma |
c.291G>T; p.E97D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.603G>A; p.E201E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.101C>T; p.S34F; |
urinary_tract; bladder | carcinoma |
c.467G>A; p.R156H; |
breast | carcinoma |
c.692C>T; p.S231L; |
prostate | carcinoma; adenocarcinoma |