| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 23451 |
Name | SF3B1 |
Synonymous | splicing factor 3b, subunit 1, 155kDa;SF3B1;splicing factor 3b, subunit 1, 155kDa |
Definition | SAP 155|pre-mRNA processing 10|pre-mRNA splicing factor SF3b, 155 kDa subunit|spliceosome-associated protein 155|splicing factor 3B subunit 1|splicing factor 3b, subunit 1, 155kD |
Position | 2q33.1 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2222A>C; p.K741T; 2:197401986-197401986 |
liver | carcinoma | Substitution - Missense |
c.2222A>C; p.K741T; 2:197401986-197401986 |
liver | carcinoma | Substitution - Missense |
c.2222A>C; p.K741T; 2:197401986-197401986 |
liver | carcinoma | Substitution - Missense |
c.2222A>C; p.K741T; 2:197401986-197401986 |
liver | carcinoma | Substitution - Missense |
c.212C>T; p.S71L; 2:197421117-197421117 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2101G>T; p.V701F; 2:197402107-197402107 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2101G>T; p.V701F; 2:197402107-197402107 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2101G>T; p.V701F; 2:197402107-197402107 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2101G>T; p.V701F; 2:197402107-197402107 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2101G>T; p.V701F; 2:197402107-197402107 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2347G>A; p.E783K; 2:197401765-197401765 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.2816G>A; p.R939H; 2:197400337-197400337 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.318G>A; p.E106E; 2:197420525-197420525 |
breast | carcinoma | Substitution - coding silent |
c.229C>G; p.L77V; 2:197421100-197421100 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1390C>T; p.L464F; 2:197405322-197405322 |
breast | carcinoma | Substitution - Missense |
c.183T>G; p.T61T; 2:197423820-197423820 |
liver | carcinoma | Substitution - coding silent |
c.2681_2683delATG; p.D894delD; 2:197400750-197400752 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - In frame |
c.1601A>C; p.Q534P; 2:197403703-197403703 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1601A>C; p.Q534P; 2:197403703-197403703 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2318T>G; p.L773R; 2:197401794-197401794 |
pancreas | carcinoma | Substitution - Missense |
c.2318T>G; p.L773R; 2:197401794-197401794 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1579_1580GG>CT; p.G527L; 2:197403724-197403725 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3085G>A; p.E1029K; 2:197398510-197398510 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1621T>C; p.S541P; 2:197403683-197403683 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2153C>T; p.P718L; 2:197402055-197402055 |
skin | malignant_melanoma | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2003T>C; p.V668A; 2:197402630-197402630 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2746A>G; p.T916A; 2:197400407-197400407 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>G; p.K666R; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.988G>T; p.G330*; 2:197408498-197408498 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2342A>G; p.D781G; 2:197401770-197401770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1631T>C; p.L544P; 2:197403673-197403673 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2342A>G; p.D781G; 2:197401770-197401770 |
NS | NS | Substitution - Missense |
c.2342A>G; p.D781G; 2:197401770-197401770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2342A>G; p.D781G; 2:197401770-197401770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2342A>G; p.D781G; 2:197401770-197401770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2132C>A; p.A711D; 2:197402076-197402076 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Missense |
c.3164G>T; p.W1055L; 2:197398087-197398087 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1996A>C; p.K666Q; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2427G>C; p.E809D; 2:197401469-197401469 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1996A>C; p.K666Q; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.296A>G; p.E99G; 2:197421033-197421033 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1996A>C; p.K666Q; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.360A>G; p.K120K; 2:197420483-197420483 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.362A>T; p.K121M; 2:197420481-197420481 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1996A>C; p.K666Q; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1996A>C; p.K666Q; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2427G>C; p.E809D; 2:197401469-197401469 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1497G>A; p.K499K; 2:197405118-197405118 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1996A>C; p.K666Q; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.2681A>G; p.D894G; 2:197400752-197400752 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2681A>G; p.D894G; 2:197400752-197400752 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2681A>G; p.D894G; 2:197400752-197400752 |
skin | malignant_melanoma | Substitution - Missense |
c.3523G>T; p.D1175Y; 2:197396072-197396072 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1558A>G; p.T520A; 2:197403746-197403746 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1393C>T; p.P465S; 2:197405319-197405319 |
skin | malignant_melanoma | Substitution - Missense |
c.99C>T; p.L33L; 2:197423904-197423904 |
skin | malignant_melanoma | Substitution - coding silent |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
NS | NS | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
NS | NS | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
NS | NS | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.526G>A; p.A176T; 2:197416881-197416881 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
eye; uveal_tract | malignant_melanoma; mixed | Substitution - Missense |
c.1866G>C; p.E622D; 2:197402767-197402767 |
NS | NS | Substitution - Missense |
c.1976A>G; p.Q659R; 2:197402657-197402657 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1972T>G; p.W658G; 2:197402661-197402661 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.576T>C; p.P192P; 2:197416831-197416831 |
ovary | other; neoplasm | Substitution - coding silent |
c.1867T>C; p.Y623H; 2:197402766-197402766 |
eye; uveal_tract | malignant_melanoma; epithelioid | Substitution - Missense |
c.2219G>A; p.G740E; 2:197401989-197401989 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2219G>A; p.G740E; 2:197401989-197401989 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2219G>A; p.G740E; 2:197401989-197401989 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3890G>A; p.R1297H; 2:197392328-197392328 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2219G>A; p.G740E; 2:197401989-197401989 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2219G>A; p.G740E; 2:197401989-197401989 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2219G>A; p.G740E; 2:197401989-197401989 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.592C>T; p.R198W; 2:197416815-197416815 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1395A>G; p.P465P; 2:197405317-197405317 |
liver | carcinoma | Substitution - coding silent |
c.2907A>G; p.K969K; 2:197400161-197400161 |
skin | malignant_melanoma | Substitution - coding silent |
c.2007A>T; p.Q669H; 2:197402626-197402626 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.777C>A; p.S259R; 2:197409897-197409897 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
pancreas | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
pancreas | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
pancreas | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
breast | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
breast | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
breast | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
pancreas | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
breast | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
breast | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
eye; uveal_tract | malignant_melanoma; mixed | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
breast | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3729A>G; p.P1243P; 2:197392999-197392999 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
breast | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
breast | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
pancreas | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
pancreas | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
breast | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
breast | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
breast | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
breast | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
breast | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
NS | NS | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
pancreas | carcinoma | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.2098A>G; p.K700E; 2:197402110-197402110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.763G>A; p.D255N; 2:197409911-197409911 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1118-3T>C; p.?; 2:197408122-197408122 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.1645C>T; p.R549C; 2:197403659-197403659 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1219A>G; p.M407V; 2:197408018-197408018 |
liver | carcinoma | Substitution - Missense |
c.1579_1580GG>TC; p.G527S; 2:197403724-197403725 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2164G>A; p.E722K; 2:197402044-197402044 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2164G>A; p.E722K; 2:197402044-197402044 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2164G>A; p.E722K; 2:197402044-197402044 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1007C>A; p.S336*; 2:197408479-197408479 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3757-8T>C; p.?; 2:197392469-197392469 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Unknown |
c.2639G>A; p.G880E; 2:197400794-197400794 |
liver | carcinoma | Substitution - Missense |
c.2639G>A; p.G880E; 2:197400794-197400794 |
liver | carcinoma | Substitution - Missense |
c.3450G>A; p.S1150S; 2:197396145-197396145 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2359delA; p.I787fs*3; 2:197401753-197401753 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Deletion - Frameshift |
c.1876A>T; p.N626Y; 2:197402757-197402757 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1876A>T; p.N626Y; 2:197402757-197402757 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3722T>C; p.I1241T; 2:197393006-197393006 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3583A>G; p.M1195V; 2:197393145-197393145 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1876A>T; p.N626Y; 2:197402757-197402757 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1876A>T; p.N626Y; 2:197402757-197402757 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1876A>T; p.N626Y; 2:197402757-197402757 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2324G>A; p.R775Q; 2:197401788-197401788 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1876A>T; p.N626Y; 2:197402757-197402757 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1876A>T; p.N626Y; 2:197402757-197402757 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2359delA; p.I787fs*3; 2:197401753-197401753 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Deletion - Frameshift |
c.2723C>T; p.S908L; 2:197400430-197400430 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1925C>T; p.P642L; 2:197402708-197402708 |
skin | malignant_melanoma | Substitution - Missense |
c.3766C>T; p.H1256Y; 2:197392452-197392452 |
skin | malignant_melanoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
breast | carcinoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1996A>G; p.K666E; 2:197402637-197402637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2123C>T; p.A708V; 2:197402085-197402085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.358A>C; p.K120Q; 2:197420485-197420485 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2218G>A; p.G740R; 2:197401990-197401990 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2218G>A; p.G740R; 2:197401990-197401990 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2719G>T; p.D907Y; 2:197400434-197400434 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1351C>T; p.R451*; 2:197405361-197405361 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1351C>T; p.R451*; 2:197405361-197405361 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1472A>G; p.E491G; 2:197405143-197405143 |
NS | NS | Substitution - Missense |
c.2582C>G; p.A861G; 2:197400851-197400851 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1351C>T; p.R451*; 2:197405361-197405361 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.952C>T; p.R318*; 2:197408534-197408534 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3723T>G; p.I1241M; 2:197393005-197393005 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2240T>G; p.L747W; 2:197401872-197401872 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1781G>A; p.R594Q; 2:197402974-197402974 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2132_2133CC>TT; p.A711V; 2:197402075-197402076 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1970C>T; p.S657F; 2:197402663-197402663 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1740G>A; p.P580P; 2:197403015-197403015 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3139G>T; p.A1047S; 2:197398112-197398112 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2255A>G; p.Y752C; 2:197401857-197401857 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2743G>C; p.G915R; 2:197400410-197400410 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2255A>G; p.Y752C; 2:197401857-197401857 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.3044A>G; p.D1015G; 2:197398551-197398551 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3657A>G; p.V1219V; 2:197393071-197393071 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3657A>G; p.V1219V; 2:197393071-197393071 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3336C>T; p.T1112T; 2:197396259-197396259 |
NS | malignant_melanoma | Substitution - coding silent |
c.3336C>T; p.T1112T; 2:197396259-197396259 |
NS | malignant_melanoma | Substitution - coding silent |
c.1160G>A; p.R387Q; 2:197408077-197408077 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1553A>G; p.Q518R; 2:197403751-197403751 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2870G>A; p.R957Q; 2:197400283-197400283 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2870G>A; p.R957Q; 2:197400283-197400283 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2870G>A; p.R957Q; 2:197400283-197400283 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2870G>A; p.R957Q; 2:197400283-197400283 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2870G>A; p.R957Q; 2:197400283-197400283 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2421A>T; p.K807N; 2:197401475-197401475 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1557T>G; p.I519M; 2:197403747-197403747 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2225G>A; p.G742D; 2:197401887-197401887 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1868A>G; p.Y623C; 2:197402765-197402765 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1868A>G; p.Y623C; 2:197402765-197402765 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1868A>G; p.Y623C; 2:197402765-197402765 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1868A>G; p.Y623C; 2:197402765-197402765 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1868A>G; p.Y623C; 2:197402765-197402765 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1898C>T; p.A633V; 2:197402735-197402735 |
breast | carcinoma | Substitution - Missense |
c.1868A>G; p.Y623C; 2:197402765-197402765 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2102T>C; p.V701A; 2:197402106-197402106 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1070A>T; p.K357M; 2:197408416-197408416 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.960A>T; p.G320G; 2:197408526-197408526 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1468G>A; p.E490K; 2:197405147-197405147 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2206C>T; p.R736C; 2:197402002-197402002 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1001G>T; p.R334I; 2:197408485-197408485 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2356A>C; p.K786Q; 2:197401756-197401756 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3661G>C; p.E1221Q; 2:197393067-197393067 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2356A>C; p.K786Q; 2:197401756-197401756 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1857C>G; p.N619K; 2:197402776-197402776 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.1993A>T; p.I665F; 2:197402640-197402640 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1772T>A; p.V591E; 2:197402983-197402983 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.2578G>A; p.E860K; 2:197400855-197400855 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2252G>T; p.G751V; 2:197401860-197401860 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.359A>G; p.K120R; 2:197420484-197420484 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.800C>A; p.T267N; 2:197409874-197409874 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2219G>T; p.G740V; 2:197401989-197401989 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3634T>A; p.L1212M; 2:197393094-197393094 |
stomach | adenocarcinoma | Substitution - Missense |
c.617A>G; p.Q206R; 2:197416790-197416790 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2316C>T; p.I772I; 2:197401796-197401796 |
skin | malignant_melanoma | Substitution - coding silent |
c.406T>C; p.F136L; 2:197420437-197420437 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1962C>T; p.S654S; 2:197402671-197402671 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2343T>A; p.D781E; 2:197401769-197401769 |
breast | carcinoma | Substitution - Missense |
c.1107C>T; p.T369T; 2:197408379-197408379 |
prostate | carcinoma | Substitution - coding silent |
c.2492G>A; p.R831Q; 2:197401404-197401404 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2492G>A; p.R831Q; 2:197401404-197401404 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3631T>C; p.L1211L; 2:197393097-197393097 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.25G>A; p.E9K; 2:197434975-197434975 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3631T>C; p.L1211L; 2:197393097-197393097 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1352G>T; p.R451L; 2:197405360-197405360 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1903G>T; p.V635L; 2:197402730-197402730 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1801G>A; p.A601T; 2:197402954-197402954 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3809A>G; p.N1270S; 2:197392409-197392409 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2765G>A; p.G922D; 2:197400388-197400388 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.3620C>T; p.S1207L; 2:197393108-197393108 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2499A>T; p.L833F; 2:197400934-197400934 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2352_2354delGAA; p.M784_K785>I; 2:197401758-197401760 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Complex - deletion inframe |
c.2685T>C; p.G895G; 2:197400748-197400748 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2352_2354delGAA; p.M784_K785>I; 2:197401758-197401760 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Complex - deletion inframe |
c.2876C>T; p.A959V; 2:197400277-197400277 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2339C>G; p.P780R; 2:197401773-197401773 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.46C>G; p.R16G; 2:197423957-197423957 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.403C>T; p.P135S; 2:197420440-197420440 |
skin | malignant_melanoma | Substitution - Missense |
c.1264G>A; p.V422I; 2:197405448-197405448 |
prostate | carcinoma | Substitution - Missense |
c.2631T>C; p.G877G; 2:197400802-197400802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2631T>C; p.G877G; 2:197400802-197400802 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.682C>T; p.P228S; 2:197409992-197409992 |
skin | malignant_melanoma | Substitution - Missense |
c.2027G>A; p.G676D; 2:197402606-197402606 |
NS | NS | Substitution - Missense |
c.2110A>T; p.I704F; 2:197402098-197402098 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2110A>T; p.I704F; 2:197402098-197402098 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2111T>G; p.I704S; 2:197402097-197402097 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.378G>T; p.M126I; 2:197420465-197420465 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2110A>T; p.I704F; 2:197402098-197402098 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2110A>T; p.I704F; 2:197402098-197402098 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2110A>T; p.I704F; 2:197402098-197402098 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.2137G>A; p.A713T; 2:197402071-197402071 |
skin | malignant_melanoma | Substitution - Missense |
c.2110A>T; p.I704F; 2:197402098-197402098 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2110A>T; p.I704F; 2:197402098-197402098 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2110A>T; p.I704F; 2:197402098-197402098 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1091C>T; p.A364V; 2:197408395-197408395 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2097G>T; p.Q699H; 2:197402111-197402111 |
pancreas | NS | Substitution - Missense |
c.2626A>T; p.M876L; 2:197400807-197400807 |
thyroid | carcinoma | Substitution - Missense |
c.2097G>T; p.Q699H; 2:197402111-197402111 |
pancreas | carcinoma | Substitution - Missense |
c.3560C>T; p.T1187M; 2:197393168-197393168 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3287C>A; p.T1096K; 2:197396308-197396308 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2154T>C; p.P718P; 2:197402054-197402054 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.256G>A; p.A86T; 2:197421073-197421073 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3436G>A; p.G1146R; 2:197396159-197396159 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1059G>C; p.L353L; 2:197408427-197408427 |
breast | carcinoma | Substitution - coding silent |
c.3734G>C; p.R1245T; 2:197392994-197392994 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2986G>T; p.A996S; 2:197400082-197400082 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2223G>T; p.K741N; 2:197401985-197401985 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1997A>T; p.K666M; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>T; p.K666M; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>T; p.K666M; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>T; p.K666M; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.544A>G; p.K182E; 2:197416863-197416863 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>T; p.K666M; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>T; p.K666M; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.785C>T; p.P262L; 2:197409889-197409889 |
ovary | other; neoplasm | Substitution - Missense |
c.1997A>T; p.K666M; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1997A>T; p.K666M; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>T; p.K666M; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2223G>T; p.K741N; 2:197401985-197401985 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3610T>C; p.C1204R; 2:197393118-197393118 |
haematopoietic_and_lymphoid_tissue; skin | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.1513A>G; p.K505E; 2:197405102-197405102 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2104_2105delCG; p.R702fs*12; 2:197402103-197402104 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.344G>T; p.R115L; 2:197420499-197420499 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2695G>T; p.A899S; 2:197400738-197400738 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3670C>A; p.P1224T; 2:197393058-197393058 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2886G>A; p.M962I; 2:197400267-197400267 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2886G>A; p.M962I; 2:197400267-197400267 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2129C>T; p.A710V; 2:197402079-197402079 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1873C>A; p.R625S; 2:197402760-197402760 |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.1974G>C; p.W658C; 2:197402659-197402659 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1988C>T; p.T663I; 2:197402645-197402645 |
liver | carcinoma | Substitution - Missense |
c.1988C>T; p.T663I; 2:197402645-197402645 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2692T>C; p.Y898H; 2:197400741-197400741 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1988C>T; p.T663I; 2:197402645-197402645 |
liver | carcinoma | Substitution - Missense |
c.2692T>C; p.Y898H; 2:197400741-197400741 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1988C>T; p.T663I; 2:197402645-197402645 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1988C>T; p.T663I; 2:197402645-197402645 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1988C>T; p.T663I; 2:197402645-197402645 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2692T>C; p.Y898H; 2:197400741-197400741 |
skin | malignant_melanoma | Substitution - Missense |
c.1988C>T; p.T663I; 2:197402645-197402645 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.429T>C; p.P143P; 2:197418575-197418575 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2233G>C; p.A745P; 2:197401879-197401879 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2230G>C; p.A744P; 2:197401882-197401882 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2219_2220GA>TT; p.G740>?; 2:197401988-197401989 |
lung | carcinoma; adenocarcinoma | Complex |
c.2230G>C; p.A744P; 2:197401882-197401882 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.201C>T; p.D67D; 2:197421128-197421128 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1873C>G; p.R625G; 2:197402760-197402760 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1873C>G; p.R625G; 2:197402760-197402760 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
prostate | carcinoma | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2294A>G; p.Y765C; 2:197401818-197401818 |
breast | carcinoma | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
NS | NS | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1873C>G; p.R625G; 2:197402760-197402760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>G; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3804T>G; p.I1268M; 2:197392414-197392414 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2788C>T; p.P930S; 2:197400365-197400365 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2101G>A; p.V701I; 2:197402107-197402107 |
NS | NS | Substitution - Missense |
c.20C>T; p.T7I; 2:197434980-197434980 |
thyroid | carcinoma | Substitution - Missense |
c.3122G>A; p.R1041H; 2:197398473-197398473 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3122G>A; p.R1041H; 2:197398473-197398473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.835C>T; p.P279S; 2:197409839-197409839 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3838C>T; p.L1280F; 2:197392380-197392380 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2731T>G; p.L911V; 2:197400422-197400422 |
thyroid | carcinoma; medullary_carcinoma | Substitution - Missense |
c.1644G>A; p.E548E; 2:197403660-197403660 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.100G>A; p.D34N; 2:197423903-197423903 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1109C>T; p.P370L; 2:197408377-197408377 |
skin | malignant_melanoma | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2122G>A; p.A708T; 2:197402086-197402086 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1998G>C; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1866G>T; p.E622D; 2:197402767-197402767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.850G>A; p.A284T; 2:197409824-197409824 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2324G>T; p.R775L; 2:197401788-197401788 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2288A>G; p.N763S; 2:197401824-197401824 |
pancreas | carcinoma | Substitution - Missense |
c.2521G>A; p.A841T; 2:197400912-197400912 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.850G>A; p.A284T; 2:197409824-197409824 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1769G>A; p.R590K; 2:197402986-197402986 |
NS | NS | Substitution - Missense |
c.850G>A; p.A284T; 2:197409824-197409824 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3633G>A; p.L1211L; 2:197393095-197393095 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2100A>G; p.K700K; 2:197402108-197402108 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2110A>G; p.I704V; 2:197402098-197402098 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1189C>T; p.R397C; 2:197408048-197408048 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3633G>A; p.L1211L; 2:197393095-197393095 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2102_2102delT; p.R702fs*27; 2:197402106-197402106 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.3049C>T; p.L1017L; 2:197398546-197398546 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3193C>A; p.L1065I; 2:197398058-197398058 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.49G>T; p.E17*; 2:197423954-197423954 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1876A>C; p.N626H; 2:197402757-197402757 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.821C>T; p.P274L; 2:197409853-197409853 |
skin | malignant_melanoma | Substitution - Missense |
c.363G>A; p.K121K; 2:197420480-197420480 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1702C>T; p.R568C; 2:197403602-197403602 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1874G>C; p.R625P; 2:197402759-197402759 |
skin | malignant_melanoma | Substitution - Missense |
c.922A>C; p.S308R; 2:197408564-197408564 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1040G>T; p.G347V; 2:197408446-197408446 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2540C>T; p.A847V; 2:197400893-197400893 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1874G>C; p.R625P; 2:197402759-197402759 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.658C>A; p.Q220K; 2:197416749-197416749 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.686C>A; p.S229Y; 2:197409988-197409988 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2223G>C; p.K741N; 2:197401985-197401985 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.875G>A; p.R292K; 2:197409799-197409799 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1874G>T; p.R625L; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1986C>A; p.H662Q; 2:197402647-197402647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1890A>T; p.R630S; 2:197402743-197402743 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2215A>G; p.R739G; 2:197401993-197401993 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.712C>T; p.R238C; 2:197409962-197409962 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2708A>G; p.Q903R; 2:197400725-197400725 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.711T>C; p.G237G; 2:197409963-197409963 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1865A>T; p.E622V; 2:197402768-197402768 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1876A>G; p.N626D; 2:197402757-197402757 |
breast | carcinoma | Substitution - Missense |
c.1876A>G; p.N626D; 2:197402757-197402757 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1118-5G>C; p.?; 2:197408124-197408124 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1876A>G; p.N626D; 2:197402757-197402757 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.969T>C; p.I323I; 2:197408517-197408517 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.2104C>T; p.R702W; 2:197402104-197402104 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2434C>T; p.P812S; 2:197401462-197401462 |
skin | malignant_melanoma | Substitution - Missense |
c.1984C>G; p.H662D; 2:197402649-197402649 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1984C>G; p.H662D; 2:197402649-197402649 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1984C>G; p.H662D; 2:197402649-197402649 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1984C>G; p.H662D; 2:197402649-197402649 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1984C>G; p.H662D; 2:197402649-197402649 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1984C>G; p.H662D; 2:197402649-197402649 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1984C>G; p.H662D; 2:197402649-197402649 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1984C>G; p.H662D; 2:197402649-197402649 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1984C>G; p.H662D; 2:197402649-197402649 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1984C>G; p.H662D; 2:197402649-197402649 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.721G>T; p.G241*; 2:197409953-197409953 |
breast | carcinoma | Substitution - Nonsense |
c.2068A>T; p.I690F; 2:197402565-197402565 |
testis | germ_cell_tumour; embryonal_carcinoma | Substitution - Missense |
c.2095_2100delCAGAAA; p.Q699_K700del; 2:197402108-197402113 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - In frame |
c.2095_2100delCAGAAA; p.Q699_K700del; 2:197402108-197402113 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - In frame |
c.2095_2100delCAGAAA; p.Q699_K700del; 2:197402108-197402113 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.1864G>C; p.E622Q; 2:197402769-197402769 |
breast | carcinoma | Substitution - Missense |
c.1703G>A; p.R568H; 2:197403601-197403601 |
pancreas | NS | Substitution - Missense |
c.687C>T; p.S229S; 2:197409987-197409987 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2099A>G; p.K700R; 2:197402109-197402109 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2704G>A; p.E902K; 2:197400729-197400729 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2704G>A; p.E902K; 2:197400729-197400729 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2704G>A; p.E902K; 2:197400729-197400729 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2704G>A; p.E902K; 2:197400729-197400729 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2704G>A; p.E902K; 2:197400729-197400729 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.74T>C; p.L25P; 2:197423929-197423929 |
liver | carcinoma | Substitution - Missense |
c.1774G>A; p.E592K; 2:197402981-197402981 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1774G>A; p.E592K; 2:197402981-197402981 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1774G>A; p.E592K; 2:197402981-197402981 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1774G>A; p.E592K; 2:197402981-197402981 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1774G>A; p.E592K; 2:197402981-197402981 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.74T>C; p.L25P; 2:197423929-197423929 |
liver | carcinoma | Substitution - Missense |
c.1945A>G; p.K649E; 2:197402688-197402688 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3219T>G; p.I1073M; 2:197398032-197398032 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.146G>T; p.S49I; 2:197423857-197423857 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2097_2098GA>TG; p.Q699_K700>HE; 2:197402110-197402111 |
pancreas | carcinoma | Complex - compound substitution |
c.1997A>C; p.K666T; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
skin | malignant_melanoma | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1852G>T; p.D618Y; 2:197402781-197402781 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.596G>A; p.R199H; 2:197416811-197416811 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
NS | NS | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1997A>C; p.K666T; 2:197402636-197402636 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Missense |
c.1877A>T; p.N626I; 2:197402756-197402756 |
thyroid | carcinoma; medullary_carcinoma | Substitution - Missense |
c.3121C>T; p.R1041C; 2:197398474-197398474 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3686C>T; p.A1229V; 2:197393042-197393042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3900T>G; p.L1300L; 2:197392318-197392318 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.657T>A; p.D219E; 2:197416750-197416750 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.46C>T; p.R16*; 2:197423957-197423957 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1417C>G; p.Q473E; 2:197405295-197405295 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
NS | NS | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
NS | NS | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
NS | NS | Substitution - Missense |
c.423A>G; p.K141K; 2:197418581-197418581 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.423A>G; p.K141K; 2:197418581-197418581 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.423A>G; p.K141K; 2:197418581-197418581 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1998G>T; p.K666N; 2:197402635-197402635 |
endometrium | carcinoma; carcinosarcoma-malignant_mesodermal_mixed_tumour | Substitution - Missense |
c.2680G>A; p.D894N; 2:197400753-197400753 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3645A>G; p.V1215V; 2:197393083-197393083 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.554A>G; p.N185S; 2:197416853-197416853 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1159C>T; p.R387W; 2:197408078-197408078 |
prostate | carcinoma | Substitution - Missense |
c.3775C>A; p.R1259R; 2:197392443-197392443 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2584G>A; p.E862K; 2:197400849-197400849 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2008C>G; p.Q670E; 2:197402625-197402625 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2584G>A; p.E862K; 2:197400849-197400849 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.2584G>A; p.E862K; 2:197400849-197400849 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2008C>G; p.Q670E; 2:197402625-197402625 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2111T>A; p.I704N; 2:197402097-197402097 |
NS | NS | Substitution - Missense |
c.1274G>A; p.R425Q; 2:197405438-197405438 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1736_1738delAAC; p.E579_P580>A; 2:197403017-197403019 |
eye; uveal_tract | malignant_melanoma; epithelioid | Complex - deletion inframe |
c.2111T>A; p.I704N; 2:197402097-197402097 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3769C>A; p.P1257T; 2:197392449-197392449 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.3224G>A; p.R1075K; 2:197398027-197398027 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1274G>A; p.R425Q; 2:197405438-197405438 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3820A>T; p.I1274F; 2:197392398-197392398 |
skin | malignant_melanoma | Substitution - Missense |
c.2942A>G; p.Y981C; 2:197400126-197400126 |
liver | carcinoma | Substitution - Missense |
c.2942A>G; p.Y981C; 2:197400126-197400126 |
liver | carcinoma | Substitution - Missense |
c.13G>T; p.A5S; 2:197434987-197434987 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.2719-3_2719-2insT; p.?; 2:197400436-197400437 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.1873C>T; p.R625C; 2:197402760-197402760 |
skin | malignant_melanoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
skin | malignant_melanoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3889C>T; p.R1297C; 2:197392329-197392329 |
skin | malignant_melanoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
skin | malignant_melanoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
pancreas | carcinoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1873C>T; p.R625C; 2:197402760-197402760 |
pancreas | carcinoma | Substitution - Missense |
c.275A>G; p.N92S; 2:197421054-197421054 |
liver | carcinoma | Substitution - Missense |
c.2234C>T; p.A745V; 2:197401878-197401878 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1973G>T; p.W658L; 2:197402660-197402660 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - Missense |
c.2483G>T; p.R828I; 2:197401413-197401413 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1726_1728delGTG; p.V576del; 2:197403027-197403029 |
eye; uveal_tract | malignant_melanoma; spindle | Deletion - In frame |
c.2483G>T; p.R828I; 2:197401413-197401413 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1973G>T; p.W658L; 2:197402660-197402660 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.944G>A; p.R315Q; 2:197408542-197408542 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1089A>G; p.P363P; 2:197408397-197408397 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma; mixed | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
skin | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma; mixed | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
liver | carcinoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
central_nervous_system; brainstem | primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
skin | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
liver | carcinoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3505G>A; p.V1169I; 2:197396090-197396090 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma; mixed | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
skin | malignant_melanoma | Substitution - Missense |
c.1874G>A; p.R625H; 2:197402759-197402759 |
eye; uveal_tract | malignant_melanoma | Substitution - Missense |