| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 4352 |
Name | MPL |
Synonymous | MPL proto-oncogene, thrombopoietin receptor;MPL;MPL proto-oncogene, thrombopoietin receptor |
Definition | TPO-R|myeloproliferative leukemia protein|myeloproliferative leukemia virus oncogene|proto-oncogene c-Mpl|thrombopoietin receptor |
Position | 1p34 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.169G>A; p.A57T; 1:43338188-43338188 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1824A>C; p.P608P; 1:43352688-43352688 |
breast | carcinoma | Substitution - coding silent |
c.1574G>A; p.R525K; 1:43352224-43352224 |
breast | carcinoma | Substitution - Missense |
c.1492C>G; p.L498V; 1:43349286-43349286 |
breast | carcinoma | Substitution - Missense |
c.856G>T; p.A286S; 1:43340389-43340389 |
breast | carcinoma | Substitution - Missense |
c.269G>A; p.R90Q; 1:43338598-43338598 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1649G>A; p.S550N; 1:43352299-43352299 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1168C>T; p.R390C; 1:43346794-43346794 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.62C>T; p.A21V; 1:43337910-43337910 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.289G>T; p.D97Y; 1:43338618-43338618 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.795C>T; p.L265L; 1:43340068-43340068 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1857C>A; p.T619T; 1:43352721-43352721 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.10T>C; p.W4R; 1:43337858-43337858 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1778G>T; p.R593I; 1:43352642-43352642 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1014G>T; p.E338D; 1:43346478-43346478 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.649C>T; p.P217S; 1:43339528-43339528 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.475C>A; p.P159T; 1:43339354-43339354 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.962G>A; p.R321Q; 1:43340495-43340495 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.962G>A; p.R321Q; 1:43340495-43340495 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.962G>A; p.R321Q; 1:43340495-43340495 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1003G>A; p.E335K; 1:43346467-43346467 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | other; splanchnic_vein_thrombosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>AA; p.W515K; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1886_1887insGG; p.S630fs*8; 1:43352750-43352751 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Insertion - Frameshift |
c.1634A>G; p.D545G; 1:43352284-43352284 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1633G>A; p.D545N; 1:43352283-43352283 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1501G>C; p.V501L; 1:43349295-43349295 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1556C>T; p.A519V; 1:43349350-43349350 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1519G>A; p.V507I; 1:43349313-43349313 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1886T>C; p.L629P; 1:43352750-43352750 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1525G>T; p.G509C; 1:43349319-43349319 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1514G>A; p.S505N; 1:43349308-43349308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1514G>A; p.S505N; 1:43349308-43349308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1514G>A; p.S505N; 1:43349308-43349308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1514G>A; p.S505N; 1:43349308-43349308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1514G>A; p.S505N; 1:43349308-43349308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1514G>A; p.S505N; 1:43349308-43349308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1514G>A; p.S505N; 1:43349308-43349308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1514G>A; p.S505N; 1:43349308-43349308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1514G>A; p.S505N; 1:43349308-43349308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1514G>A; p.S505N; 1:43349308-43349308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1514G>A; p.S505N; 1:43349308-43349308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1514G>A; p.S505N; 1:43349308-43349308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1514G>A; p.S505N; 1:43349308-43349308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.953G>T; p.S318I; 1:43340486-43340486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1433C>A; p.S478*; 1:43348967-43348967 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.1529T>C; p.L510P; 1:43349323-43349323 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>C; p.W515S; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>C; p.W515S; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1870C>G; p.H624D; 1:43352734-43352734 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1775G>A; p.R592Q; 1:43352639-43352639 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1539_1540ins12; p.L513_R514insLSCL; 1:43349333-43349334 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - In frame |
c.610T>C; p.S204P; 1:43339489-43339489 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1513A>T; p.S505C; 1:43349307-43349307 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1559A>C; p.H520P; 1:43349353-43349353 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1489G>A; p.A497T; 1:43349283-43349283 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1491_1492ins12; p.A497_L498insLVIA; 1:43349285-43349286 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Insertion - In frame |
c.1488_1489ins12; p.T496_A497insALVI; 1:43349282-43349283 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Insertion - In frame |
c.1694C>T; p.P565L; 1:43352558-43352558 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1543_1552TGGCAGTTTC>AAAA; p.W515_P518>KT; 1:43349337-43349346 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Complex - deletion inframe |
c.1543_1552TGGCAGTTTC>AAAA; p.W515_P518>KT; 1:43349337-43349346 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Complex - deletion inframe |
c.1216C>G; p.L406V; 1:43346842-43346842 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1543T>A; p.W515R; 1:43349337-43349337 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1543T>A; p.W515R; 1:43349337-43349337 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1543T>A; p.W515R; 1:43349337-43349337 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1543T>A; p.W515R; 1:43349337-43349337 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543T>A; p.W515R; 1:43349337-43349337 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543T>A; p.W515R; 1:43349337-43349337 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1516G>A; p.A506T; 1:43349310-43349310 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1516G>A; p.A506T; 1:43349310-43349310 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1542_1544GTG>AGC; p.W515A; 1:43349336-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1759G>A; p.A587T; 1:43352623-43352623 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1543T>C; p.W515R; 1:43349337-43349337 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.1543T>C; p.W515R; 1:43349337-43349337 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1892delA; p.Y631fs*>5; 1:43352756-43352756 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1183A>G; p.N395D; 1:43346809-43346809 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1771T>G; p.Y591D; 1:43352635-43352635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1771T>G; p.Y591D; 1:43352635-43352635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.1771T>G; p.Y591D; 1:43352635-43352635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1541G>A; p.R514K; 1:43349335-43349335 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.899C>G; p.T300S; 1:43340432-43340432 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.404C>G; p.P135R; 1:43339283-43339283 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Substitution - Missense |
c.754T>C; p.Y252H; 1:43340027-43340027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1555G>A; p.A519T; 1:43349349-43349349 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1555G>A; p.A519T; 1:43349349-43349349 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.?; p.?; 1:43349364-43349364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Unknown |
c.1543_1545TGG>AAA; p.W515K; 1:43349337-43349339 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1543_1545TGG>AAA; p.W515K; 1:43349337-43349339 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>GC; p.W515A; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>GC; p.W515A; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>GC; p.W515A; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>GC; p.W515A; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>GC; p.W515A; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1543_1544TG>GC; p.W515A; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>GC; p.W515A; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1543_1544TG>GC; p.W515A; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1543_1544TG>GC; p.W515A; 1:43349337-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1053C>T; p.R351R; 1:43346517-43346517 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1502T>C; p.V501A; 1:43349296-43349296 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1573_1574AG>T; p.R525fs*15; 1:43352223-43352224 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Complex - frameshift |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1502T>C; p.V501A; 1:43349296-43349296 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1544G>T; p.W515L; 1:43349338-43349338 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1618G>A; p.G540S; 1:43352268-43352268 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.?; p.?; 1:43352306-43352306 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Unknown |
c.1120A>G; p.T374A; 1:43346584-43346584 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1367G>A; p.R456H; 1:43348901-43348901 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1459A>G; p.T487A; 1:43348993-43348993 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.611C>T; p.S204F; 1:43339490-43339490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1524G>T; p.L508L; 1:43349318-43349318 |
kidney | other; neoplasm | Substitution - coding silent |
c.1165+2T>C; p.?; 1:43346631-43346631 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1660G>A; p.A554T; 1:43352524-43352524 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1632G>T; p.R544S; 1:43352282-43352282 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1513A>G; p.S505G; 1:43349307-43349307 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.61G>T; p.A21S; 1:43337909-43337909 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.610T>C; p.S204P; 1:43339489-43339489 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1515C>T; p.S505S; 1:43349309-43349309 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.253C>T; p.P85S; 1:43338582-43338582 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.399G>A; p.P133P; 1:43339278-43339278 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1326_1327insG; p.A444fs*39; 1:43348860-43348861 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1168C>T; p.R390C; 1:43346794-43346794 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.509G>A; p.R170H; 1:43339388-43339388 |
large_intestine; rectum | NS | Substitution - Missense |
c.713G>A; p.G238D; 1:43339986-43339986 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.853G>T; p.V285L; 1:43340126-43340126 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.612T>C; p.S204S; 1:43339491-43339491 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.612T>C; p.S204S; 1:43339491-43339491 |
large_intestine; rectum | NS | Substitution - coding silent |
c.414C>A; p.I138I; 1:43339293-43339293 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1111G>A; p.A371T; 1:43346575-43346575 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1541G>T; p.R514M; 1:43349335-43349335 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1541G>T; p.R514M; 1:43349335-43349335 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.500A>G; p.Y167C; 1:43339379-43339379 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.777A>G; p.E259E; 1:43340050-43340050 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.501C>T; p.Y167Y; 1:43339380-43339380 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.501C>T; p.Y167Y; 1:43339380-43339380 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1367G>T; p.R456L; 1:43348901-43348901 |
liver | carcinoma | Substitution - Missense |
c.1002C>A; p.C334*; 1:43346466-43346466 |
liver | carcinoma | Substitution - Nonsense |
c.1002C>A; p.C334*; 1:43346466-43346466 |
liver | carcinoma | Substitution - Nonsense |
c.507C>A; p.L169L; 1:43339386-43339386 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1774C>T; p.R592*; 1:43352638-43352638 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1122T>A; p.T374T; 1:43346586-43346586 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1670C>G; p.S557*; 1:43352534-43352534 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1670C>G; p.S557*; 1:43352534-43352534 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.584C>A; p.P195H; 1:43339463-43339463 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.757T>C; p.W253R; 1:43340030-43340030 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1014G>C; p.E338D; 1:43346478-43346478 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1116G>C; p.P372P; 1:43346580-43346580 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1039C>A; p.P347T; 1:43346503-43346503 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.695C>G; p.S232*; 1:43339968-43339968 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.1801A>G; p.T601A; 1:43352665-43352665 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.598C>A; p.P200T; 1:43339477-43339477 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.366G>A; p.Q122Q; 1:43338695-43338695 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.500A>G; p.Y167C; 1:43339379-43339379 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1528_1530delCTG; p.L513delL; 1:43349322-43349324 |
NS | malignant_melanoma | Deletion - In frame |
c.632G>C; p.C211S; 1:43339511-43339511 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1359G>A; p.P453P; 1:43348893-43348893 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1593A>C; p.S531S; 1:43352243-43352243 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.209C>T; p.P70L; 1:43338228-43338228 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.21C>G; p.F7L; 1:43337869-43337869 |
ovary | other; neoplasm | Substitution - Missense |
c.999C>T; p.N333N; 1:43346463-43346463 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.1270C>T; p.Q424*; 1:43346896-43346896 |
pancreas | NS | Substitution - Nonsense |
c.888G>A; p.L296L; 1:43340421-43340421 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.538A>T; p.T180S; 1:43339417-43339417 |
skin | malignant_melanoma | Substitution - Missense |
c.157G>A; p.D53N; 1:43338176-43338176 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1672G>A; p.D558N; 1:43352536-43352536 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.15C>T; p.A5A; 1:43337863-43337863 |
skin | malignant_melanoma | Substitution - coding silent |
c.508C>T; p.R170C; 1:43339387-43339387 |
skin | malignant_melanoma | Substitution - Missense |
c.510C>T; p.R170R; 1:43339389-43339389 |
skin | malignant_melanoma | Substitution - coding silent |
c.677C>T; p.S226F; 1:43339556-43339556 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.932C>T; p.S311F; 1:43340465-43340465 |
skin | malignant_melanoma | Substitution - Missense |
c.845G>A; p.G282E; 1:43340118-43340118 |
skin | malignant_melanoma | Substitution - Missense |
c.483C>T; p.I161I; 1:43339362-43339362 |
skin | malignant_melanoma | Substitution - coding silent |
c.297G>A; p.E99E; 1:43338626-43338626 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1070G>A; p.R357Q; 1:43346534-43346534 |
skin | malignant_melanoma | Substitution - Missense |
c.312C>T; p.F104F; 1:43338641-43338641 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.21C>T; p.F7F; 1:43337869-43337869 |
skin | malignant_melanoma | Substitution - coding silent |
c.1799G>A; p.G600E; 1:43352663-43352663 |
skin | malignant_melanoma | Substitution - Missense |
c.1800G>A; p.G600G; 1:43352664-43352664 |
skin | malignant_melanoma | Substitution - coding silent |
c.1286G>A; p.G429E; 1:43346912-43346912 |
skin | malignant_melanoma | Substitution - Missense |
c.616C>T; p.L206L; 1:43339495-43339495 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.242C>T; p.S81F; 1:43338571-43338571 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.214G>A; p.E72K; 1:43338543-43338543 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.606A>G; p.S202S; 1:43339485-43339485 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.769C>T; p.R257C; 1:43340042-43340042 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.142C>A; p.L48I; 1:43338161-43338161 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1652C>T; p.P551L; 1:43352302-43352302 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.224G>A; p.R75H; 1:43338553-43338553 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1697G>A; p.S566N; 1:43352561-43352561 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.274G>A; p.V92M; 1:43338603-43338603 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.86C>A; p.S29Y; 1:43338105-43338105 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1498C>G; p.L500V; 1:43349292-43349292 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.211C>T; p.R71W; 1:43338230-43338230 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.561G>A; p.L187L; 1:43339440-43339440 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.326T>A; p.L109H; 1:43338655-43338655 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.326T>A; p.L109H; 1:43338655-43338655 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.738C>G; p.L246L; 1:43340011-43340011 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.738C>G; p.L246L; 1:43340011-43340011 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.317C>T; p.P106L; 1:43338646-43338646 |
urinary_tract; bladder | carcinoma | Substitution - Missense |