| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 25 |
Name | ABL1 |
Synonymous | ABL proto-oncogene 1, non-receptor tyrosine kinase;ABL1;ABL proto-oncogene 1, non-receptor tyrosine kinase |
Definition | Abelson tyrosine-protein kinase 1|bcr/c-abl oncogene protein|c-abl oncogene 1, receptor tyrosine kinase|proto-oncogene c-Abl|proto-oncogene tyrosine-protein kinase ABL1|tyrosine-protein kinase ABL1|v-abl Abelson murine leukemia viral oncogene homolog 1 |
Position | 9q34.1 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1952T>G; p.L651W; 9:130884242-130884242 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3108C>G; p.T1036T; 9:130885398-130885398 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.211G>A; p.D71N; 9:130854195-130854195 |
breast | carcinoma | Substitution - Missense |
c.1318T>C; p.Y440H; 9:130878462-130878462 |
breast | carcinoma | Substitution - Missense |
c.1086-1G>C; p.?; 9:130874867-130874867 |
breast | carcinoma | Unknown |
c.1414A>T; p.M472L; 9:130878558-130878558 |
breast | carcinoma | Substitution - Missense |
c.1762G>C; p.E588Q; 9:130884052-130884052 |
breast | carcinoma | Substitution - Missense |
c.1446C>A; p.D482E; 9:130880090-130880090 |
breast | carcinoma | Substitution - Missense |
c.2165_2169delTTCCC; p.V722fs*25; 9:130884455-130884459 |
breast | carcinoma | Deletion - Frameshift |
c.726C>G; p.I242M; 9:130862939-130862939 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.2696C>A; p.P899Q; 9:130884986-130884986 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2988G>T; p.Q996H; 9:130885278-130885278 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1141G>T; p.D381Y; 9:130874923-130874923 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1141G>T; p.D381Y; 9:130874923-130874923 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2905G>A; p.A969T; 9:130885195-130885195 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2952G>A; p.T984T; 9:130885242-130885242 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.166G>A; p.A56T; 9:130854150-130854150 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2690C>A; p.P897H; 9:130884980-130884980 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2832C>T; p.D944D; 9:130885122-130885122 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1506C>A; p.I502I; 9:130880150-130880150 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2229G>A; p.T743T; 9:130884519-130884519 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.747C>T; p.G249G; 9:130862960-130862960 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.879C>A; p.I293I; 9:130872185-130872185 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.994C>T; p.R332W; 9:130872946-130872946 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.3077delC; p.I1027fs*42; 9:130885367-130885367 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1107C>T; p.C369C; 9:130874889-130874889 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1547G>A; p.R516H; 9:130880533-130880533 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.912C>T; p.V304V; 9:130872864-130872864 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.556G>A; p.V186I; 9:130862769-130862769 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.556G>A; p.V186I; 9:130862769-130862769 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3071G>A; p.S1024N; 9:130885361-130885361 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.351G>A; p.T117T; 9:130854898-130854898 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.351G>A; p.T117T; 9:130854898-130854898 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1011C>T; p.A337A; 9:130872963-130872963 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1765C>T; p.R589C; 9:130884055-130884055 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.214T>G; p.F72V; 9:130854198-130854198 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1212A>G; p.K404K; 9:130874994-130874994 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.429C>T; p.S143S; 9:130854976-130854976 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.949T>G; p.F317V; 9:130872901-130872901 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1064A>G; p.E355G; 9:130873016-130873016 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1064A>G; p.E355G; 9:130873016-130873016 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1064A>G; p.E355G; 9:130873016-130873016 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1064A>G; p.E355G; 9:130873016-130873016 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1064A>G; p.E355G; 9:130873016-130873016 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1187A>C; p.H396P; 9:130874969-130874969 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1052T>C; p.M351T; 9:130873004-130873004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1150C>A; p.L384M; 9:130874932-130874932 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.3073G>A; p.G1025S; 9:130885363-130885363 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1150C>A; p.L384M; 9:130874932-130874932 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>G; p.F359V; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>G; p.F359V; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>G; p.F359V; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1075T>G; p.F359V; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>G; p.F359V; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>G; p.F359V; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>G; p.F359V; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>G; p.F359V; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>G; p.F359V; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>G; p.F359V; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>G; p.F359V; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.502G>A; p.E168K; 9:130855049-130855049 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1075T>G; p.F359V; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.951C>A; p.F317L; 9:130872903-130872903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.880_881AA>CGGGGGGG; p.K294>RGG; 9:130872186-130872187 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Complex - insertion inframe |
c.880_881AA>CGGGGGGG; p.K294>RGG; 9:130872186-130872187 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Complex - insertion inframe |
c.1375G>A; p.E459K; 9:130878519-130878519 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1555G>A; p.V519M; 9:130880541-130880541 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1250C>A; p.S417Y; 9:130875032-130875032 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1376A>G; p.E459G; 9:130878520-130878520 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1376A>G; p.E459G; 9:130878520-130878520 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1685T>C; p.L562P; 9:130883975-130883975 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.949T>C; p.F317L; 9:130872901-130872901 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.988T>G; p.C330G; 9:130872940-130872940 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.743T>G; p.L248R; 9:130862956-130862956 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.1457T>C; p.F486S; 9:130880101-130880101 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1313C>G; p.S438C; 9:130878457-130878457 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.2753C>T; p.P918L; 9:130885043-130885043 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Missense |
c.2753C>T; p.P918L; 9:130885043-130885043 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1804G>A; p.A602T; 9:130884094-130884094 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.757T>C; p.Y253H; 9:130862970-130862970 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1187A>G; p.H396R; 9:130874969-130874969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1187A>G; p.H396R; 9:130874969-130874969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1187A>G; p.H396R; 9:130874969-130874969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.943_944AC>CT; p.T315L; 9:130872895-130872896 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1187A>G; p.H396R; 9:130874969-130874969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1187A>G; p.H396R; 9:130874969-130874969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1187A>G; p.H396R; 9:130874969-130874969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1187A>G; p.H396R; 9:130874969-130874969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.756G>T; p.Q252H; 9:130862969-130862969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.949_950TT>CG; p.F317R; 9:130872901-130872902 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.742C>G; p.L248V; 9:130862955-130862955 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.758A>T; p.Y253F; 9:130862971-130862971 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.742C>G; p.L248V; 9:130862955-130862955 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.758A>T; p.Y253F; 9:130862971-130862971 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.742C>G; p.L248V; 9:130862955-130862955 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.758A>T; p.Y253F; 9:130862971-130862971 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.742C>G; p.L248V; 9:130862955-130862955 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.758A>T; p.Y253F; 9:130862971-130862971 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1546C>A; p.R516S; 9:130880532-130880532 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.763G>A; p.E255K; 9:130862976-130862976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1162A>T; p.M388L; 9:130874944-130874944 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.2144G>A; p.R715H; 9:130884434-130884434 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1450C>A; p.P484T; 9:130880094-130880094 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1826_1828delAGA; p.K609delK; 9:130884116-130884118 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Deletion - In frame |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1094C>T; p.A365V; 9:130874876-130874876 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>A; p.T315N; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.944C>T; p.T315I; 9:130872896-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>A; p.F359I; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>A; p.F359I; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>A; p.F359I; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1075T>A; p.F359I; 9:130873027-130873027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.756G>C; p.Q252H; 9:130862969-130862969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.756G>C; p.Q252H; 9:130862969-130862969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.756G>C; p.Q252H; 9:130862969-130862969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.756G>C; p.Q252H; 9:130862969-130862969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.756G>C; p.Q252H; 9:130862969-130862969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.756G>C; p.Q252H; 9:130862969-130862969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.756G>C; p.Q252H; 9:130862969-130862969 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1161G>C; p.L387F; 9:130874943-130874943 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.878_879insGCC; p.I293>MP; 9:130872184-130872185 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Complex - insertion inframe |
c.878_879insGCC; p.I293>MP; 9:130872184-130872185 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Complex - insertion inframe |
c.835G>A; p.E279K; 9:130872141-130872141 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1159T>A; p.L387M; 9:130874941-130874941 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1159T>A; p.L387M; 9:130874941-130874941 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1159T>A; p.L387M; 9:130874941-130874941 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.100G>C; p.A34P; 9:130854084-130854084 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.845A>T; p.E282V; 9:130872151-130872151 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1068_1069insAAG; p.K357_N358insK; 9:130873020-130873021 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Insertion - In frame |
c.764A>T; p.E255V; 9:130862977-130862977 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.764A>T; p.E255V; 9:130862977-130862977 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.764A>T; p.E255V; 9:130862977-130862977 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.764A>T; p.E255V; 9:130862977-130862977 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.764A>T; p.E255V; 9:130862977-130862977 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.764A>T; p.E255V; 9:130862977-130862977 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.764A>T; p.E255V; 9:130862977-130862977 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.730A>G; p.M244V; 9:130862943-130862943 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.2991G>A; p.P997P; 9:130885281-130885281 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.730A>G; p.M244V; 9:130862943-130862943 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.730A>G; p.M244V; 9:130862943-130862943 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.730A>G; p.M244V; 9:130862943-130862943 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.730A>G; p.M244V; 9:130862943-130862943 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.730A>G; p.M244V; 9:130862943-130862943 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.730A>G; p.M244V; 9:130862943-130862943 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.749G>A; p.G250E; 9:130862962-130862962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.836A>C; p.E279A; 9:130872142-130872142 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.122G>A; p.G41D; 9:130854106-130854106 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1086_1270del185; p.R362fs*21; 9:130874868-130875052 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Deletion - Frameshift |
c.882_883insCAC; p.H295_P296insH; 9:130872188-130872189 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Insertion - In frame |
c.826G>A; p.D276N; 9:130872132-130872132 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1109T>G; p.L370R; 9:130874891-130874891 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.2365A>G; p.K789E; 9:130884655-130884655 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1432T>C; p.W478R; 9:130880076-130880076 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.951C>G; p.F317L; 9:130872903-130872903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.951C>G; p.F317L; 9:130872903-130872903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.951C>G; p.F317L; 9:130872903-130872903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.951C>G; p.F317L; 9:130872903-130872903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.951C>G; p.F317L; 9:130872903-130872903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.951C>G; p.F317L; 9:130872903-130872903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.951C>G; p.F317L; 9:130872903-130872903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.951C>G; p.F317L; 9:130872903-130872903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.951C>G; p.F317L; 9:130872903-130872903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.951C>G; p.F317L; 9:130872903-130872903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1076T>G; p.F359C; 9:130873028-130873028 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.2359G>A; p.V787M; 9:130884649-130884649 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1076T>G; p.F359C; 9:130873028-130873028 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1076T>G; p.F359C; 9:130873028-130873028 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.827A>G; p.D276G; 9:130872133-130872133 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.931T>A; p.F311I; 9:130872883-130872883 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.827A>G; p.D276G; 9:130872133-130872133 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.3193A>T; p.T1065S; 9:130885483-130885483 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.931T>C; p.F311L; 9:130872883-130872883 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.931T>C; p.F311L; 9:130872883-130872883 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.943_944AC>GT; p.T315V; 9:130872895-130872896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.1358A>C; p.E453A; 9:130878502-130878502 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1037A>T; p.Q346L; 9:130872989-130872989 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.225T>G; p.S75R; 9:130854209-130854209 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1146T>G; p.F382L; 9:130874928-130874928 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.697G>A; p.D233N; 9:130862910-130862910 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.497G>A; p.R166K; 9:130855044-130855044 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.756G>A; p.Q252Q; 9:130862969-130862969 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1094C>T; p.A365V; 9:130874876-130874876 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3198C>T; p.F1066F; 9:130885488-130885488 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.331G>C; p.V111L; 9:130854878-130854878 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1730G>C; p.R577P; 9:130884020-130884020 |
kidney | other; neoplasm | Substitution - Missense |
c.1032C>T; p.A344A; 9:130872984-130872984 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.166G>A; p.A56T; 9:130854150-130854150 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.166G>A; p.A56T; 9:130854150-130854150 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1847A>G; p.K616R; 9:130884137-130884137 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.498A>G; p.R166R; 9:130855045-130855045 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1431G>A; p.Q477Q; 9:130880075-130880075 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2453T>C; p.L818P; 9:130884743-130884743 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1109T>C; p.L370P; 9:130874891-130874891 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1900G>A; p.G634S; 9:130884190-130884190 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2346_2347insC; p.R785fs*7; 9:130884636-130884637 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2834C>T; p.A945V; 9:130885124-130885124 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2834C>T; p.A945V; 9:130885124-130885124 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.692A>G; p.N231S; 9:130862905-130862905 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1729C>T; p.R577*; 9:130884019-130884019 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.731T>C; p.M244T; 9:130862944-130862944 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1377G>T; p.E459D; 9:130878521-130878521 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1376A>G; p.E459G; 9:130878520-130878520 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1376A>G; p.E459G; 9:130878520-130878520 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1813_1815delAAG; p.K609delK; 9:130884103-130884105 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.1813_1815delAAG; p.K609delK; 9:130884103-130884105 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.2753C>T; p.P918L; 9:130885043-130885043 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1187A>G; p.H396R; 9:130874969-130874969 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1151T>C; p.L384P; 9:130874933-130874933 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454C>T; p.R152C; 9:130855001-130855001 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1249T>C; p.S417P; 9:130875031-130875031 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.759C>A; p.Y253*; 9:130862972-130862972 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.758A>T; p.Y253F; 9:130862971-130862971 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1188T>C; p.H396H; 9:130874970-130874970 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1251C>A; p.S417S; 9:130875033-130875033 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1129G>A; p.V377M; 9:130874911-130874911 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2458C>T; p.R820W; 9:130884748-130884748 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2951C>T; p.T984M; 9:130885241-130885241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2765C>T; p.A922V; 9:130885055-130885055 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2765C>T; p.A922V; 9:130885055-130885055 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.950T>C; p.F317S; 9:130872902-130872902 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.764A>G; p.E255G; 9:130862977-130862977 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.198C>T; p.F66F; 9:130854182-130854182 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.198C>T; p.F66F; 9:130854182-130854182 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3178G>A; p.G1060S; 9:130885468-130885468 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2484G>T; p.S828S; 9:130884774-130884774 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.989G>A; p.C330Y; 9:130872941-130872941 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.800C>T; p.T267M; 9:130863013-130863013 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3156C>T; p.S1052S; 9:130885446-130885446 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.139C>T; p.R47C; 9:130854123-130854123 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.925delC; p.P310fs*9; 9:130872877-130872877 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3066C>T; p.I1022I; 9:130885356-130885356 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1589C>A; p.T530N; 9:130880575-130880575 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.770A>G; p.Y257C; 9:130862983-130862983 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.770A>G; p.Y257C; 9:130862983-130862983 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2239T>A; p.F747I; 9:130884529-130884529 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2697G>A; p.P899P; 9:130884987-130884987 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1150C>T; p.L384L; 9:130874932-130874932 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1051A>G; p.M351V; 9:130873003-130873003 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2135G>A; p.R712H; 9:130884425-130884425 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2715C>T; p.A905A; 9:130885005-130885005 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1168G>T; p.G390W; 9:130874950-130874950 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.836A>G; p.E279G; 9:130872142-130872142 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1542C>T; p.G514G; 9:130880528-130880528 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1792A>G; p.N598D; 9:130884082-130884082 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2787C>T; p.G929G; 9:130885077-130885077 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.467G>A; p.S156N; 9:130855014-130855014 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3113C>T; p.A1038V; 9:130885403-130885403 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.794G>A; p.S265N; 9:130863007-130863007 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3359C>T; p.S1120L; 9:130885649-130885649 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1417C>T; p.R473*; 9:130878561-130878561 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.827A>G; p.D276G; 9:130872133-130872133 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1765C>T; p.R589C; 9:130884055-130884055 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.311C>T; p.T104I; 9:130854858-130854858 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.895G>A; p.V299M; 9:130872201-130872201 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.214T>G; p.F72V; 9:130854198-130854198 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3283C>T; p.R1095W; 9:130885573-130885573 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1152G>A; p.L384L; 9:130874934-130874934 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.140G>T; p.R47L; 9:130854124-130854124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.429C>T; p.S143S; 9:130854976-130854976 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2362A>G; p.K788E; 9:130884652-130884652 |
liver | carcinoma | Substitution - Missense |
c.2362A>G; p.K788E; 9:130884652-130884652 |
liver | carcinoma | Substitution - Missense |
c.2416C>T; p.P806S; 9:130884706-130884706 |
liver | carcinoma | Substitution - Missense |
c.2416C>T; p.P806S; 9:130884706-130884706 |
liver | carcinoma | Substitution - Missense |
c.1097C>T; p.A366V; 9:130874879-130874879 |
liver | carcinoma | Substitution - Missense |
c.1097C>T; p.A366V; 9:130874879-130874879 |
liver | carcinoma | Substitution - Missense |
c.1869G>A; p.E623E; 9:130884159-130884159 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1051A>G; p.M351V; 9:130873003-130873003 |
liver | carcinoma | Substitution - Missense |
c.3288G>A; p.E1096E; 9:130885578-130885578 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1735delC; p.P580fs*5; 9:130884025-130884025 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.401G>T; p.R134L; 9:130854948-130854948 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3275A>G; p.N1092S; 9:130885565-130885565 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2196G>T; p.R732S; 9:130884486-130884486 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2940C>A; p.P980P; 9:130885230-130885230 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1357G>C; p.E453Q; 9:130878501-130878501 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.612G>C; p.T204T; 9:130862825-130862825 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1223C>T; p.P408L; 9:130875005-130875005 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.897G>A; p.V299V; 9:130872203-130872203 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3153C>T; p.A1051A; 9:130885443-130885443 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1901G>T; p.G634V; 9:130884191-130884191 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1111G>T; p.V371L; 9:130874893-130874893 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2417C>T; p.P806L; 9:130884707-130884707 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.409G>T; p.A137S; 9:130854956-130854956 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2029G>T; p.G677W; 9:130884319-130884319 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1993_1994GG>TT; p.G665L; 9:130884283-130884284 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.751G>T; p.G251C; 9:130862964-130862964 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.139C>G; p.R47G; 9:130854123-130854123 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.139C>G; p.R47G; 9:130854123-130854123 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.2576C>G; p.S859*; 9:130884866-130884866 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1046C>T; p.S349L; 9:130872998-130872998 |
oesophagus | carcinoma | Substitution - Missense |
c.1198A>G; p.K400E; 9:130874980-130874980 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1813_1815delAAG; p.K609delK; 9:130884103-130884105 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.621C>A; p.D207E; 9:130862834-130862834 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1153A>C; p.S385R; 9:130874935-130874935 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3280C>A; p.L1094I; 9:130885570-130885570 |
ovary | other; neoplasm | Substitution - Missense |
c.3280C>A; p.L1094I; 9:130885570-130885570 |
ovary | other; neoplasm | Substitution - Missense |
c.261G>C; p.K87N; 9:130854808-130854808 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3253G>C; p.E1085Q; 9:130885543-130885543 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1046C>A; p.S349*; 9:130872998-130872998 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1046C>A; p.S349*; 9:130872998-130872998 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1046C>A; p.S349*; 9:130872998-130872998 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1046C>A; p.S349*; 9:130872998-130872998 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1046C>A; p.S349*; 9:130872998-130872998 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1046C>A; p.S349*; 9:130872998-130872998 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.2850G>T; p.Q950H; 9:130885140-130885140 |
ovary | other; neoplasm | Substitution - Missense |
c.1220C>T; p.A407V; 9:130875002-130875002 |
pancreas | carcinoma | Substitution - Missense |
c.1346A>G; p.Y449C; 9:130878490-130878490 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2005C>T; p.P669S; 9:130884295-130884295 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2491C>T; p.P831S; 9:130884781-130884781 |
skin | malignant_melanoma | Substitution - Missense |
c.617C>T; p.A206V; 9:130862830-130862830 |
skin | malignant_melanoma | Substitution - Missense |
c.1043C>T; p.S348L; 9:130872995-130872995 |
skin | malignant_melanoma | Substitution - Missense |
c.1085G>A; p.R362K; 9:130873037-130873037 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2753C>T; p.P918L; 9:130885043-130885043 |
skin | malignant_melanoma | Substitution - Missense |
c.830C>T; p.T277I; 9:130872136-130872136 |
skin | malignant_melanoma | Substitution - Missense |
c.2450C>T; p.P817L; 9:130884740-130884740 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2126C>T; p.S709F; 9:130884416-130884416 |
skin | malignant_melanoma | Substitution - Missense |
c.497G>A; p.R166K; 9:130855044-130855044 |
skin | malignant_melanoma | Substitution - Missense |
c.497G>A; p.R166K; 9:130855044-130855044 |
skin | malignant_melanoma | Substitution - Missense |
c.907G>A; p.G303R; 9:130872213-130872213 |
skin | malignant_melanoma | Substitution - Missense |
c.1259C>T; p.S420F; 9:130875041-130875041 |
skin | malignant_melanoma | Substitution - Missense |
c.2939C>T; p.P980L; 9:130885229-130885229 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2939C>T; p.P980L; 9:130885229-130885229 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.652C>T; p.P218S; 9:130862865-130862865 |
skin | malignant_melanoma | Substitution - Missense |
c.560C>T; p.S187F; 9:130862773-130862773 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2391C>T; p.V797V; 9:130884681-130884681 |
skin | malignant_melanoma | Substitution - coding silent |
c.1717C>T; p.P573S; 9:130884007-130884007 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2723G>A; p.G908E; 9:130885013-130885013 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2290C>G; p.R764G; 9:130884580-130884580 |
skin | malignant_melanoma | Substitution - Missense |
c.2060G>A; p.W687*; 9:130884350-130884350 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3251G>A; p.R1084Q; 9:130885541-130885541 |
skin | malignant_melanoma | Substitution - Missense |
c.2945C>T; p.P982L; 9:130885235-130885235 |
skin | malignant_melanoma | Substitution - Missense |
c.2467A>T; p.T823S; 9:130884757-130884757 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1467C>T; p.I489I; 9:130880111-130880111 |
skin | malignant_melanoma | Substitution - coding silent |
c.1652C>T; p.P551L; 9:130880638-130880638 |
skin | malignant_melanoma | Substitution - Missense |
c.473C>T; p.P158L; 9:130855020-130855020 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1545C>T; p.V515V; 9:130880531-130880531 |
skin | malignant_melanoma | Substitution - coding silent |
c.1545C>T; p.V515V; 9:130880531-130880531 |
skin | malignant_melanoma | Substitution - coding silent |
c.1721G>A; p.R574Q; 9:130884011-130884011 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1491C>T; p.F497F; 9:130880135-130880135 |
skin | malignant_melanoma | Substitution - coding silent |
c.2911C>T; p.P971S; 9:130885201-130885201 |
skin | malignant_melanoma | Substitution - Missense |
c.2911C>T; p.P971S; 9:130885201-130885201 |
skin | malignant_melanoma | Substitution - Missense |
c.3322C>T; p.P1108S; 9:130885612-130885612 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.143_144GG>AA; p.W48*; 9:130854127-130854128 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2944C>T; p.P982S; 9:130885234-130885234 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1729C>T; p.R577*; 9:130884019-130884019 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.696C>T; p.Y232Y; 9:130862909-130862909 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2745G>A; p.S915S; 9:130885035-130885035 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2951C>T; p.T984M; 9:130885241-130885241 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3090C>T; p.G1030G; 9:130885380-130885380 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1985C>T; p.P662L; 9:130884275-130884275 |
stomach | carcinoma | Substitution - Missense |
c.1985C>T; p.P662L; 9:130884275-130884275 |
stomach | carcinoma | Substitution - Missense |
c.2178C>T; p.A726A; 9:130884468-130884468 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.351G>A; p.T117T; 9:130854898-130854898 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2124C>T; p.S708S; 9:130884414-130884414 |
stomach | adenocarcinoma | Substitution - coding silent |
c.1543G>A; p.V515I; 9:130880529-130880529 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1702G>A; p.V568M; 9:130883992-130883992 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.748G>A; p.G250R; 9:130862961-130862961 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1902C>T; p.G634G; 9:130884192-130884192 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.777C>T; p.G259G; 9:130862990-130862990 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1357G>A; p.E453K; 9:130878501-130878501 |
thyroid | carcinoma | Substitution - Missense |
c.2352C>G; p.P784P; 9:130884642-130884642 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1111G>A; p.V371I; 9:130874893-130874893 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1206C>A; p.P402P; 9:130874988-130874988 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2352C>G; p.P784P; 9:130884642-130884642 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1322C>T; p.P441L; 9:130878466-130878466 |
upper_aerodigestive_tract; head_neck | carcinoma | Substitution - Missense |
c.1322C>T; p.P441L; 9:130878466-130878466 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2621G>A; p.R874K; 9:130884911-130884911 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.601C>T; p.H201Y; 9:130862814-130862814 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2023G>A; p.E675K; 9:130884313-130884313 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2295G>A; p.K765K; 9:130884585-130884585 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1929C>T; p.N643N; 9:130884219-130884219 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1929C>T; p.N643N; 9:130884219-130884219 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.736C>T; p.H246Y; 9:130862949-130862949 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.214T>G; p.F72V; 9:130854198-130854198 |
urinary_tract; bladder | carcinoma | Substitution - Missense |