General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 5331 |
Name | PLCB3 |
Synonymous | phospholipase C, beta 3 (phosphatidylinositol-specific);PLCB3;phospholipase C, beta 3 (phosphatidylinositol-specific) |
Definition | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3|PLC beta 3|PLC-beta-3|phosphoinositide phospholipase C-beta-3 |
Position | 11q13 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.14. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.1161G>A; p.V387V; 11:64258621-64258621 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.227G>A; p.R76Q; 11:64254797-64254797 |
breast | carcinoma | Substitution - Missense |
c.1133C>T; p.T378I; 11:64258593-64258593 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1913+4T>A; p.?; 11:64261669-64261669 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.1369C>T; p.Q457*; 11:64259088-64259088 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.781G>A; p.E261K; 11:64256458-64256458 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1288C>T; p.R430C; 11:64258919-64258919 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2269G>A; p.D757N; 11:64262722-64262722 |
breast | carcinoma | Substitution - Missense |
c.366C>T; p.A122A; 11:64255017-64255017 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.366C>T; p.A122A; 11:64255017-64255017 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.711C>A; p.G237G; 11:64256388-64256388 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1763A>T; p.E588V; 11:64261431-64261431 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.978C>A; p.Y326*; 11:64256730-64256730 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1212G>A; p.S404S; 11:64258672-64258672 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2454C>T; p.S818S; 11:64263596-64263596 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1711delA; p.K572fs*13; 11:64260214-64260214 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.113G>T; p.R38L; 11:64254428-64254428 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2160G>A; p.V720V; 11:64262528-64262528 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2947C>T; p.R983W; 11:64265414-64265414 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1278T>G; p.A426A; 11:64258909-64258909 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1266G>T; p.Q422H; 11:64258897-64258897 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1278T>G; p.A426A; 11:64258909-64258909 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1140C>T; p.G380G; 11:64258600-64258600 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.606C>T; p.S202S; 11:64255729-64255729 |
skin | malignant_melanoma | Substitution - coding silent |
c.3588G>A; p.P1196P; 11:64267439-64267439 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3606G>A; p.G1202G; 11:64267457-64267457 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3606G>A; p.G1202G; 11:64267457-64267457 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2058C>T; p.N686N; 11:64262426-64262426 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2058C>T; p.N686N; 11:64262426-64262426 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3543G>A; p.A1181A; 11:64267394-64267394 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.3071G>A; p.G1024E; 11:64265921-64265921 |
pancreas | NS | Substitution - Missense |
c.2401G>T; p.E801*; 11:64263543-64263543 |
pituitary; craniopharyngeal_duct | craniopharyngioma; adamantinomatous | Substitution - Nonsense |
c.2065G>A; p.V689I; 11:64262433-64262433 |
pancreas | carcinoma | Substitution - Missense |
c.3365C>G; p.T1122R; 11:64266503-64266503 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.314C>T; p.T105M; 11:64254965-64254965 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.298G>T; p.E100*; 11:64254949-64254949 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.314C>T; p.T105M; 11:64254965-64254965 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.140C>A; p.P47H; 11:64254455-64254455 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.127C>T; p.L43L; 11:64254442-64254442 |
skin | malignant_melanoma | Substitution - coding silent |
c.1232C>T; p.S411F; 11:64258692-64258692 |
skin | malignant_melanoma | Substitution - Missense |
c.673G>A; p.D225N; 11:64255796-64255796 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1232C>T; p.S411F; 11:64258692-64258692 |
skin | malignant_melanoma | Substitution - Missense |
c.1232C>T; p.S411F; 11:64258692-64258692 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.474G>A; p.T158T; 11:64255402-64255402 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2022C>T; p.L674L; 11:64262060-64262060 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.159C>G; p.Y53*; 11:64254474-64254474 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3466C>T; p.Q1156*; 11:64267236-64267236 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Nonsense |
c.1845C>T; p.F615F; 11:64261597-64261597 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1845C>T; p.F615F; 11:64261597-64261597 |
breast | carcinoma | Substitution - coding silent |
c.1356C>T; p.P452P; 11:64259075-64259075 |
NS | malignant_melanoma | Substitution - coding silent |
c.1356C>T; p.P452P; 11:64259075-64259075 |
NS | malignant_melanoma | Substitution - coding silent |
c.765C>T; p.R255R; 11:64256442-64256442 |
prostate | carcinoma | Substitution - coding silent |
c.1610C>G; p.S537C; 11:64260113-64260113 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.667C>T; p.R223W; 11:64255790-64255790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1092C>T; p.D364D; 11:64258552-64258552 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2302C>T; p.Q768*; 11:64262755-64262755 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2302C>T; p.Q768*; 11:64262755-64262755 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2481C>T; p.N827N; 11:64263716-64263716 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2335G>T; p.E779*; 11:64262788-64262788 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.1211C>T; p.S404L; 11:64258671-64258671 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1958G>A; p.R653H; 11:64261996-64261996 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.830A>G; p.E277G; 11:64256507-64256507 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3057G>T; p.E1019D; 11:64265907-64265907 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2061G>A; p.A687A; 11:64262429-64262429 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3185G>T; p.R1062I; 11:64266035-64266035 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2568G>A; p.A856A; 11:64264028-64264028 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - coding silent |
c.2349C>T; p.F783F; 11:64262802-64262802 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2955A>G; p.A985A; 11:64265422-64265422 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2459A>T; p.Y820F; 11:64263694-64263694 |
liver | carcinoma | Substitution - Missense |
c.2459A>T; p.Y820F; 11:64263694-64263694 |
liver | carcinoma | Substitution - Missense |
c.1227C>T; p.I409I; 11:64258687-64258687 |
skin | malignant_melanoma | Substitution - coding silent |
c.891C>T; p.S297S; 11:64256643-64256643 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.585C>T; p.L195L; 11:64255604-64255604 |
skin | malignant_melanoma | Substitution - coding silent |
c.2149G>A; p.E717K; 11:64262517-64262517 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2535G>C; p.S845S; 11:64263770-64263770 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.2083C>T; p.R695C; 11:64262451-64262451 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1826G>A; p.R609Q; 11:64261494-64261494 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2339_2340CC>TT; p.P780L; 11:64262792-64262793 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2852C>T; p.P951L; 11:64265319-64265319 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2083C>T; p.R695C; 11:64262451-64262451 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2280C>T; p.R760R; 11:64262733-64262733 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2725A>C; p.T909P; 11:64265023-64265023 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2725A>C; p.T909P; 11:64265023-64265023 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.598-9G>T; p.?; 11:64255712-64255712 |
pancreas | carcinoma | Unknown |
c.3387C>T; p.I1129I; 11:64266525-64266525 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.818G>A; p.R273Q; 11:64256495-64256495 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3387C>T; p.I1129I; 11:64266525-64266525 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2217C>T; p.S739S; 11:64262670-64262670 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2217C>T; p.S739S; 11:64262670-64262670 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2275C>T; p.R759W; 11:64262728-64262728 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2275C>T; p.R759W; 11:64262728-64262728 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2275C>T; p.R759W; 11:64262728-64262728 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.2275C>T; p.R759W; 11:64262728-64262728 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.922C>T; p.L308L; 11:64256674-64256674 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1494C>T; p.S498S; 11:64259213-64259213 |
breast | carcinoma | Substitution - coding silent |
c.1494C>T; p.S498S; 11:64259213-64259213 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1494C>T; p.S498S; 11:64259213-64259213 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1494C>T; p.S498S; 11:64259213-64259213 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3252A>T; p.K1084N; 11:64266188-64266188 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1494C>T; p.S498S; 11:64259213-64259213 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1494C>T; p.S498S; 11:64259213-64259213 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1494C>T; p.S498S; 11:64259213-64259213 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1494C>T; p.S498S; 11:64259213-64259213 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.896A>G; p.Y299C; 11:64256648-64256648 |
skin | malignant_melanoma | Substitution - Missense |
c.1932C>T; p.L644L; 11:64261970-64261970 |
skin | malignant_melanoma | Substitution - coding silent |
c.2804C>T; p.P935L; 11:64265102-64265102 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3214G>A; p.V1072I; 11:64266150-64266150 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2384G>A; p.R795H; 11:64263526-64263526 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.659T>G; p.L220R; 11:64255782-64255782 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3256A>C; p.M1086L; 11:64266192-64266192 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2119C>T; p.R707W; 11:64262487-64262487 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2119C>T; p.R707W; 11:64262487-64262487 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2262C>T; p.L754L; 11:64262715-64262715 |
skin | malignant_melanoma | Substitution - coding silent |
c.822G>A; p.L274L; 11:64256499-64256499 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.822G>A; p.L274L; 11:64256499-64256499 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.977A>G; p.Y326C; 11:64256729-64256729 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1469G>A; p.S490N; 11:64259188-64259188 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1124C>T; p.P375L; 11:64258584-64258584 |
skin | malignant_melanoma | Substitution - Missense |
c.627C>T; p.S209S; 11:64255750-64255750 |
skin | malignant_melanoma | Substitution - coding silent |
c.2737C>T; p.L913L; 11:64265035-64265035 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2595C>T; p.H865H; 11:64264055-64264055 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2595C>T; p.H865H; 11:64264055-64264055 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.131G>A; p.R44H; 11:64254446-64254446 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.643C>T; p.R215W; 11:64255766-64255766 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.643C>T; p.R215W; 11:64255766-64255766 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1448G>A; p.R483H; 11:64259167-64259167 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1448G>A; p.R483H; 11:64259167-64259167 |
thyroid | other; neoplasm | Substitution - Missense |
c.1448G>A; p.R483H; 11:64259167-64259167 |
thyroid | other; neoplasm | Substitution - Missense |
c.2567C>T; p.A856V; 11:64264027-64264027 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1745G>T; p.S582I; 11:64261413-64261413 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2567C>T; p.A856V; 11:64264027-64264027 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2860C>T; p.L954L; 11:64265327-64265327 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1372G>T; p.D458Y; 11:64259091-64259091 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.512C>T; p.P171L; 11:64255440-64255440 |
skin | malignant_melanoma | Substitution - Missense |
c.2753G>C; p.R918P; 11:64265051-64265051 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2872C>T; p.R958*; 11:64265339-64265339 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1876A>G; p.M626V; 11:64261628-64261628 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2753G>C; p.R918P; 11:64265051-64265051 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2753G>C; p.R918P; 11:64265051-64265051 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1192G>T; p.E398*; 11:64258652-64258652 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1248G>T; p.V416V; 11:64258708-64258708 |
skin | malignant_melanoma | Substitution - coding silent |
c.906C>T; p.G302G; 11:64256658-64256658 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1247T>C; p.V416A; 11:64258707-64258707 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1634G>A; p.R545Q; 11:64260137-64260137 |
oesophagus | carcinoma | Substitution - Missense |
c.2922G>A; p.L974L; 11:64265389-64265389 |
prostate | carcinoma | Substitution - coding silent |
c.2857C>T; p.P953S; 11:64265324-64265324 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.834G>C; p.K278N; 11:64256511-64256511 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.335C>T; p.P112L; 11:64254986-64254986 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.591C>T; p.F197F; 11:64255610-64255610 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2231G>A; p.G744D; 11:64262684-64262684 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2747delC; p.R918fs*95; 11:64265045-64265045 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2747delC; p.R918fs*95; 11:64265045-64265045 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3079G>A; p.E1027K; 11:64265929-64265929 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.951G>A; p.T317T; 11:64256703-64256703 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.97G>A; p.E33K; 11:64251746-64251746 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2120G>A; p.R707Q; 11:64262488-64262488 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1629G>T; p.L543L; 11:64260132-64260132 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1669G>T; p.D557Y; 11:64260172-64260172 |
oesophagus | carcinoma | Substitution - Missense |
c.921C>T; p.I307I; 11:64256673-64256673 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.708_709GG>AA; p.G237S; 11:64256385-64256386 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.887T>G; p.F296C; 11:64256639-64256639 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2748C>T; p.S916S; 11:64265046-64265046 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.887T>G; p.F296C; 11:64256639-64256639 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1223T>C; p.V408A; 11:64258683-64258683 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1747G>A; p.E583K; 11:64261415-64261415 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2828C>T; p.A943V; 11:64265213-64265213 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3690G>A; p.E1230E; 11:64267541-64267541 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2173G>A; p.A725T; 11:64262541-64262541 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.273C>T; p.G91G; 11:64254924-64254924 |
skin | malignant_melanoma | Substitution - coding silent |
c.2383delC; p.R795fs*12; 11:64263525-64263525 |
prostate | carcinoma | Deletion - Frameshift |
c.2285A>G; p.Y762C; 11:64262738-64262738 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2116C>T; p.R706W; 11:64262484-64262484 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2566G>A; p.A856T; 11:64264026-64264026 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3601G>T; p.D1201Y; 11:64267452-64267452 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2632G>A; p.A878T; 11:64264092-64264092 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1093G>A; p.V365M; 11:64258553-64258553 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1080C>T; p.C360C; 11:64258540-64258540 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.828C>T; p.I276I; 11:64256505-64256505 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1854G>A; p.S618S; 11:64261606-64261606 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.467C>T; p.A156V; 11:64255313-64255313 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3365C>A; p.T1122K; 11:64266503-64266503 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1213C>G; p.P405A; 11:64258673-64258673 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.764G>A; p.R255H; 11:64256441-64256441 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.829G>A; p.E277K; 11:64256506-64256506 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.473C>T; p.T158M; 11:64255401-64255401 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2551G>A; p.D851N; 11:64263786-64263786 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2137G>A; p.D713N; 11:64262505-64262505 |
thyroid | other; neoplasm | Substitution - Missense |
c.709G>T; p.G237C; 11:64256386-64256386 |
thyroid | other; neoplasm | Substitution - Missense |
c.2507C>T; p.P836L; 11:64263742-64263742 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1108C>T; p.P370S; 11:64258568-64258568 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1108C>T; p.P370S; 11:64258568-64258568 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3291C>G; p.I1097M; 11:64266339-64266339 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3233C>A; p.T1078N; 11:64266169-64266169 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1125C>A; p.P375P; 11:64258585-64258585 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2923C>T; p.R975W; 11:64265390-64265390 |
breast | carcinoma | Substitution - Missense |
c.1771T>G; p.S591A; 11:64261439-64261439 |
thyroid | carcinoma | Substitution - Missense |
c.2958C>T; p.V986V; 11:64265425-64265425 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2206C>T; p.Q736*; 11:64262659-64262659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.107C>T; p.S36F; 11:64254422-64254422 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1422C>T; p.S474S; 11:64259141-64259141 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2527G>A; p.E843K; 11:64263762-64263762 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1959C>T; p.R653R; 11:64261997-64261997 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1791C>T; p.I597I; 11:64261459-64261459 |
skin | malignant_melanoma | Substitution - coding silent |
c.1128C>G; p.F376L; 11:64258588-64258588 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2343C>T; p.F781F; 11:64262796-64262796 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2079C>T; p.N693N; 11:64262447-64262447 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1293C>G; p.S431S; 11:64258924-64258924 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.130C>T; p.R44C; 11:64254445-64254445 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.130C>T; p.R44C; 11:64254445-64254445 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1076G>A; p.R359H; 11:64258536-64258536 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1076G>A; p.R359H; 11:64258536-64258536 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1553G>T; p.G518V; 11:64260056-64260056 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1317C>T; p.I439I; 11:64258948-64258948 |
pituitary; craniopharyngeal_duct | craniopharyngioma; adamantinomatous | Substitution - coding silent |
c.1098G>A; p.W366*; 11:64258558-64258558 |
breast | carcinoma | Substitution - Nonsense |
c.1047G>A; p.M349I; 11:64258507-64258507 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.581G>T; p.G194V; 11:64255600-64255600 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1029G>T; p.G343G; 11:64258489-64258489 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1029G>T; p.G343G; 11:64258489-64258489 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3274A>T; p.K1092*; 11:64266322-64266322 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.260G>A; p.R87Q; 11:64254911-64254911 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3532G>A; p.E1178K; 11:64267383-64267383 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.554G>T; p.R185L; 11:64255573-64255573 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3379C>T; p.R1127W; 11:64266517-64266517 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1778T>G; p.L593R; 11:64261446-64261446 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1442C>T; p.A481V; 11:64259161-64259161 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2629G>T; p.A877S; 11:64264089-64264089 |
skin | malignant_melanoma | Substitution - Missense |