| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 9215 |
Name | LARGE |
Synonymous | like-glycosyltransferase;LARGE;like-glycosyltransferase |
Definition | acetylglucosaminyltransferase-like 1A|acetylglucosaminyltransferase-like protein|glycosyltransferase-like protein LARGE1 |
Position | 22q12.3 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.432C>T; p.C144C; 22:33626303-33626303 |
large_intestine; rectum | NS | Substitution - coding silent |
c.732T>C; p.D244D; 22:33564903-33564903 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1224C>A; p.D408E; 22:33337709-33337709 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.959C>T; p.A320V; 22:33384238-33384238 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1188T>C; p.F396F; 22:33337745-33337745 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1092C>T; p.T364T; 22:33381958-33381958 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.604G>T; p.D202Y; 22:33604446-33604446 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1339C>T; p.R447W; 22:33316197-33316197 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.209G>A; p.R70H; 22:33650566-33650566 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.209G>A; p.R70H; 22:33650566-33650566 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1351T>C; p.F451L; 22:33316185-33316185 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1287C>T; p.N429N; 22:33337646-33337646 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.192C>T; p.S64S; 22:33650583-33650583 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1117G>T; p.V373L; 22:33381933-33381933 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1639C>T; p.R547C; 22:33304320-33304320 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.349G>T; p.G117C; 22:33650426-33650426 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.544C>A; p.L182M; 22:33604506-33604506 |
large_intestine; colon | NS | Substitution - Missense |
c.1410C>T; p.D470D; 22:33316126-33316126 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1410C>T; p.D470D; 22:33316126-33316126 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.304T>A; p.Y102N; 22:33650471-33650471 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1556G>T; p.G519V; 22:33304403-33304403 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2257G>A; p.E753K; 22:33274441-33274441 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1931C>T; p.T644I; 22:33277202-33277202 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.1669C>T; p.P557S; 22:33304290-33304290 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1289T>C; p.L430P; 22:33316247-33316247 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1785C>T; p.P595P; 22:33283294-33283294 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1539C>T; p.F513F; 22:33304420-33304420 |
skin | malignant_melanoma | Substitution - coding silent |
c.262G>T; p.G88C; 22:33650513-33650513 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1008T>A; p.D336E; 22:33382042-33382042 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2136C>T; p.F712F; 22:33274562-33274562 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.577G>T; p.A193S; 22:33604473-33604473 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1932C>T; p.T644T; 22:33277201-33277201 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1567C>T; p.L523F; 22:33304392-33304392 |
liver | carcinoma | Substitution - Missense |
c.1419C>G; p.D473E; 22:33316117-33316117 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.937G>A; p.E313K; 22:33384260-33384260 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2020T>C; p.F674L; 22:33277113-33277113 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.529A>G; p.I177V; 22:33604521-33604521 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.529A>G; p.I177V; 22:33604521-33604521 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.576C>T; p.P192P; 22:33604474-33604474 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.308C>T; p.S103F; 22:33650467-33650467 |
skin | malignant_melanoma | Substitution - Missense |
c.1792G>A; p.E598K; 22:33283287-33283287 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.1875C>T; p.F625F; 22:33283204-33283204 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.477C>T; p.S159S; 22:33626258-33626258 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1243G>A; p.E415K; 22:33337690-33337690 |
skin | malignant_melanoma | Substitution - Missense |
c.857G>A; p.R286H; 22:33432196-33432196 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.293A>G; p.H98R; 22:33650482-33650482 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.435C>T; p.A145A; 22:33626300-33626300 |
thyroid | other; neoplasm | Substitution - coding silent |
c.502C>T; p.L168L; 22:33604548-33604548 |
skin | malignant_melanoma | Substitution - coding silent |
c.1941G>A; p.T647T; 22:33277192-33277192 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1878G>A; p.R626R; 22:33277255-33277255 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1005G>T; p.Q335H; 22:33384192-33384192 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2056A>G; p.M686V; 22:33277077-33277077 |
bone; humerus | chondrosarcoma | Substitution - Missense |
c.1123G>T; p.D375Y; 22:33381927-33381927 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1918G>A; p.A640T; 22:33277215-33277215 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.922C>T; p.R308W; 22:33384275-33384275 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1918G>A; p.A640T; 22:33277215-33277215 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.408+2T>C; p.?; 22:33650365-33650365 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2092C>T; p.L698L; 22:33274606-33274606 |
skin | malignant_melanoma | Substitution - coding silent |
c.1898G>A; p.G633D; 22:33277235-33277235 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1259C>T; p.P420L; 22:33337674-33337674 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2151C>T; p.F717F; 22:33274547-33274547 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.237C>T; p.L79L; 22:33650538-33650538 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.433G>A; p.A145T; 22:33626302-33626302 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.275C>T; p.S92F; 22:33650500-33650500 |
skin | malignant_melanoma | Substitution - Missense |
c.1410C>G; p.D470E; 22:33316126-33316126 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.102C>T; p.F34F; 22:33761375-33761375 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.102C>T; p.F34F; 22:33761375-33761375 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.757G>C; p.E253Q; 22:33564878-33564878 |
breast | carcinoma | Substitution - Missense |
c.1801C>T; p.R601C; 22:33283278-33283278 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1801C>T; p.R601C; 22:33283278-33283278 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1625C>T; p.P542L; 22:33304334-33304334 |
skin | malignant_melanoma | Substitution - Missense |
c.281G>A; p.R94H; 22:33650494-33650494 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1716C>T; p.L572L; 22:33304243-33304243 |
skin | malignant_melanoma | Substitution - coding silent |
c.1908C>T; p.P636P; 22:33277225-33277225 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1432G>A; p.A478T; 22:33316104-33316104 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1908C>T; p.P636P; 22:33277225-33277225 |
skin | malignant_melanoma | Substitution - coding silent |
c.543C>T; p.I181I; 22:33604507-33604507 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.183G>T; p.E61D; 22:33650592-33650592 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.20G>C; p.G7A; 22:33761457-33761457 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.106+1G>A; p.?; 22:33761370-33761370 |
lung | carcinoma; adenocarcinoma | Unknown |
c.603A>G; p.A201A; 22:33604447-33604447 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.25C>T; p.R9W; 22:33761452-33761452 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.25C>T; p.R9W; 22:33761452-33761452 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.533C>T; p.A178V; 22:33604517-33604517 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1384C>T; p.H462Y; 22:33316152-33316152 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1563G>A; p.E521E; 22:33304396-33304396 |
liver | carcinoma | Substitution - coding silent |
c.1563G>A; p.E521E; 22:33304396-33304396 |
liver | carcinoma | Substitution - coding silent |
c.827G>T; p.W276L; 22:33432226-33432226 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1152_1153insC; p.K385fs*24; 22:33337780-33337781 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.924G>A; p.R308R; 22:33384273-33384273 |
skin | malignant_melanoma | Substitution - coding silent |
c.284G>A; p.R95Q; 22:33650491-33650491 |
thyroid | carcinoma | Substitution - Missense |
c.1097C>T; p.S366F; 22:33381953-33381953 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1204C>T; p.L402L; 22:33337729-33337729 |
skin | malignant_melanoma | Substitution - coding silent |
c.1777A>G; p.I593V; 22:33283302-33283302 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1927C>T; p.R643W; 22:33277206-33277206 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.117C>T; p.P39P; 22:33650658-33650658 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.765G>T; p.W255C; 22:33564870-33564870 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1662C>T; p.I554I; 22:33304297-33304297 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.765G>T; p.W255C; 22:33564870-33564870 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.332G>T; p.S111I; 22:33650443-33650443 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2073G>T; p.Q691H; 22:33277060-33277060 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.894G>A; p.G298G; 22:33384303-33384303 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.523G>A; p.D175N; 22:33604527-33604527 |
oesophagus | carcinoma | Substitution - Missense |
c.229C>T; p.R77C; 22:33650546-33650546 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2222G>A; p.R741H; 22:33274476-33274476 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2073G>A; p.Q691Q; 22:33277060-33277060 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1512C>T; p.Y504Y; 22:33304447-33304447 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1059C>T; p.P353P; 22:33381991-33381991 |
skin | malignant_melanoma | Substitution - coding silent |
c.1083A>G; p.S361S; 22:33381967-33381967 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1729A>G; p.R577G; 22:33304230-33304230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1192C>T; p.R398C; 22:33337741-33337741 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.460G>A; p.V154I; 22:33626275-33626275 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.676G>T; p.V226F; 22:33564959-33564959 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1399C>T; p.P467S; 22:33316137-33316137 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.40G>A; p.A14T; 22:33761437-33761437 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1549G>A; p.A517T; 22:33304410-33304410 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1878-7G>A; p.?; 22:33277262-33277262 |
pancreas | carcinoma | Unknown |
c.1544G>A; p.R515H; 22:33304415-33304415 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.917A>C; p.K306T; 22:33384280-33384280 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.397G>C; p.E133Q; 22:33650378-33650378 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.948G>C; p.W316C; 22:33384249-33384249 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1170G>A; p.K390K; 22:33337763-33337763 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1150C>T; p.P384S; 22:33337783-33337783 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1150C>T; p.P384S; 22:33337783-33337783 |
skin | malignant_melanoma | Substitution - Missense |
c.140C>T; p.S47F; 22:33650635-33650635 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.140C>T; p.S47F; 22:33650635-33650635 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1702C>T; p.P568S; 22:33304257-33304257 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.81T>C; p.I27I; 22:33761396-33761396 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.233C>T; p.A78V; 22:33650542-33650542 |
skin | malignant_melanoma | Substitution - Missense |
c.824A>G; p.D275G; 22:33432229-33432229 |
breast | carcinoma | Substitution - Missense |
c.1419C>T; p.D473D; 22:33316117-33316117 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1419C>T; p.D473D; 22:33316117-33316117 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1093C>A; p.R365S; 22:33381957-33381957 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1917C>T; p.F639F; 22:33277216-33277216 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1917C>T; p.F639F; 22:33277216-33277216 |
skin | malignant_melanoma | Substitution - coding silent |
c.1917C>T; p.F639F; 22:33277216-33277216 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.23G>A; p.R8K; 22:33761454-33761454 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1917C>T; p.F639F; 22:33277216-33277216 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.2271+3C>T; p.?; 22:33274424-33274424 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.1902C>T; p.H634H; 22:33277231-33277231 |
oesophagus | carcinoma | Substitution - coding silent |
c.1540C>T; p.L514F; 22:33304419-33304419 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.166G>A; p.A56T; 22:33650609-33650609 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.494G>A; p.R165Q; 22:33604556-33604556 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.982C>T; p.L328F; 22:33384215-33384215 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2236G>A; p.A746T; 22:33274462-33274462 |
breast | carcinoma | Substitution - Missense |
c.668T>A; p.M223K; 22:33564967-33564967 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1435C>T; p.Q479*; 22:33316101-33316101 |
liver | carcinoma | Substitution - Nonsense |
c.102C>A; p.F34L; 22:33761375-33761375 |
breast | carcinoma | Substitution - Missense |
c.209G>C; p.R70P; 22:33650566-33650566 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.1627G>A; p.V543M; 22:33304332-33304332 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1627G>A; p.V543M; 22:33304332-33304332 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1225G>A; p.G409S; 22:33337708-33337708 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.131C>T; p.P44L; 22:33650644-33650644 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1264G>A; p.E422K; 22:33337669-33337669 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1409A>G; p.D470G; 22:33316127-33316127 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1222G>A; p.D408N; 22:33337711-33337711 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2122C>T; p.H708Y; 22:33274576-33274576 |
breast | carcinoma | Substitution - Missense |
c.186C>T; p.R62R; 22:33650589-33650589 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2065G>C; p.D689H; 22:33277068-33277068 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.492-1G>A; p.?; 22:33604559-33604559 |
skin | malignant_melanoma | Unknown |
c.923G>A; p.R308Q; 22:33384274-33384274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.116C>T; p.P39L; 22:33650659-33650659 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.988A>G; p.T330A; 22:33384209-33384209 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.294C>T; p.H98H; 22:33650481-33650481 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1282G>C; p.E428Q; 22:33337651-33337651 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1099G>A; p.E367K; 22:33381951-33381951 |
pancreas | carcinoma | Substitution - Missense |
c.26G>A; p.R9Q; 22:33761451-33761451 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2037G>A; p.W679*; 22:33277096-33277096 |
skin | malignant_melanoma | Substitution - Nonsense |
c.478G>A; p.V160I; 22:33626257-33626257 |
pancreas | carcinoma | Substitution - Missense |
c.1170G>C; p.K390N; 22:33337763-33337763 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2250C>T; p.L750L; 22:33274448-33274448 |
breast | carcinoma | Substitution - coding silent |
c.1821C>A; p.P607P; 22:33283258-33283258 |
breast | carcinoma | Substitution - coding silent |
c.44C>A; p.S15*; 22:33761433-33761433 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1192_1193insC; p.R398fs*11; 22:33337740-33337741 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.551C>T; p.T184M; 22:33604499-33604499 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.219G>T; p.E73D; 22:33650556-33650556 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.393C>T; p.V131V; 22:33650382-33650382 |
skin | malignant_melanoma | Substitution - coding silent |
c.930G>T; p.M310I; 22:33384267-33384267 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1903G>A; p.A635T; 22:33277230-33277230 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.463A>C; p.T155P; 22:33626272-33626272 |
breast | carcinoma | Substitution - Missense |
c.1161C>T; p.L387L; 22:33337772-33337772 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2101G>A; p.A701T; 22:33274597-33274597 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.583C>T; p.R195C; 22:33604467-33604467 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.759G>A; p.E253E; 22:33564876-33564876 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1021G>A; p.V341I; 22:33382029-33382029 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1791C>T; p.F597F; 22:33283288-33283288 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1134C>G; p.V378V; 22:33337799-33337799 |
pancreas | carcinoma | Substitution - coding silent |
c.406G>A; p.E136K; 22:33650369-33650369 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.239G>A; p.R80H; 22:33650536-33650536 |
pancreas | carcinoma | Substitution - Missense |
c.1117G>C; p.V373L; 22:33381933-33381933 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1421T>C; p.V474A; 22:33316115-33316115 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |