General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 6599 |
Name | SMARCC1 |
Synonymous | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1;SMARCC1;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 |
Definition | BRG1-associated factor 155|SWI/SNF complex 155 kDa subunit|SWI/SNF complex subunit SMARCC1|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1|chromatin remodeling complex BAF155 subunit|mammalian chromatin remode |
Position | 3p21.31 |
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 0.10. |
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.2415T>A; p.D805E; 3:47636098-47636098 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2090G>A; p.S697N; 3:47662402-47662402 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1657A>G; p.T553A; 3:47676697-47676697 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.250C>T; p.L84F; 3:47772882-47772882 |
skin | malignant_melanoma | Substitution - Missense |
c.2472G>A; p.V824V; 3:47636041-47636041 |
pancreas | carcinoma | Substitution - coding silent |
c.325T>C; p.F109L; 3:47745984-47745984 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2518G>T; p.E840*; 3:47635318-47635318 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2518G>T; p.E840*; 3:47635318-47635318 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1696C>A; p.L566I; 3:47676658-47676658 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1075A>G; p.K359E; 3:47701368-47701368 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.732C>T; p.V244V; 3:47714475-47714475 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3213C>T; p.N1071N; 3:47590668-47590668 |
prostate | carcinoma | Substitution - coding silent |
c.1205G>T; p.G402V; 3:47693261-47693261 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2669G>C; p.R890T; 3:47622319-47622319 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1310T>G; p.L437R; 3:47686124-47686124 |
skin | malignant_melanoma | Substitution - Missense |
c.3181T>G; p.L1061V; 3:47590700-47590700 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.788G>A; p.W263*; 3:47714419-47714419 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2490A>G; p.S830S; 3:47636023-47636023 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3128C>T; p.P1043L; 3:47590753-47590753 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3274C>T; p.P1092S; 3:47588253-47588253 |
skin | malignant_melanoma | Substitution - Missense |
c.1198G>C; p.V400L; 3:47693268-47693268 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3010C>T; p.H1004Y; 3:47610099-47610099 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1840-3T>C; p.?; 3:47670720-47670720 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.132G>C; p.E44D; 3:47781666-47781666 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2759T>G; p.I920S; 3:47622229-47622229 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2072C>T; p.S691L; 3:47662420-47662420 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.690A>G; p.L230L; 3:47720692-47720692 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1364C>T; p.A455V; 3:47686070-47686070 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1660C>T; p.P554S; 3:47676694-47676694 |
skin | malignant_melanoma | Substitution - Missense |
c.3131C>T; p.S1044F; 3:47590750-47590750 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2860G>A; p.A954T; 3:47610249-47610249 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2860G>A; p.A954T; 3:47610249-47610249 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1957A>G; p.T653A; 3:47662535-47662535 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2424A>C; p.Q808H; 3:47636089-47636089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2845T>C; p.Y949H; 3:47610264-47610264 |
pancreas | carcinoma | Substitution - Missense |
c.1497T>C; p.R499R; 3:47678272-47678272 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3252A>G; p.P1084P; 3:47588275-47588275 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1894C>G; p.L632V; 3:47670663-47670663 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.402-3delT; p.?; 3:47738113-47738113 |
pancreas | carcinoma; acinar_carcinoma | Unknown |
c.760G>A; p.E254K; 3:47714447-47714447 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2356G>C; p.D786H; 3:47638745-47638745 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.433A>T; p.M145L; 3:47738079-47738079 |
kidney | other; neoplasm | Substitution - Missense |
c.2242T>C; p.S748P; 3:47661372-47661372 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.443A>T; p.N148I; 3:47738069-47738069 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2444delA; p.N815fs*10; 3:47636069-47636069 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1003A>G; p.T335A; 3:47706446-47706446 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1535G>A; p.R512Q; 3:47678234-47678234 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.781A>C; p.K261Q; 3:47714426-47714426 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2121C>T; p.D707D; 3:47662371-47662371 |
skin | malignant_melanoma | Substitution - coding silent |
c.2051A>G; p.Q684R; 3:47662441-47662441 |
pancreas | carcinoma | Substitution - Missense |
c.2051A>G; p.Q684R; 3:47662441-47662441 |
pancreas | carcinoma | Substitution - Missense |
c.2051A>G; p.Q684R; 3:47662441-47662441 |
pancreas | carcinoma | Substitution - Missense |
c.2168C>T; p.S723F; 3:47661446-47661446 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.2120A>T; p.D707V; 3:47662372-47662372 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.135C>T; p.S45S; 3:47781663-47781663 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.498delC; p.R167fs*12; 3:47736112-47736112 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1165+1G>T; p.?; 3:47701277-47701277 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1180G>T; p.D394Y; 3:47693286-47693286 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2040T>G; p.P680P; 3:47662452-47662452 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1197T>C; p.P399P; 3:47693269-47693269 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2016G>T; p.E672D; 3:47662476-47662476 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3043+4A>T; p.?; 3:47610062-47610062 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.2541A>G; p.E847E; 3:47635295-47635295 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2175C>T; p.V725V; 3:47661439-47661439 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - coding silent |
c.2682C>T; p.S894S; 3:47622306-47622306 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2175C>T; p.V725V; 3:47661439-47661439 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2530A>G; p.T844A; 3:47635306-47635306 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2023G>A; p.D675N; 3:47662469-47662469 |
breast | carcinoma | Substitution - Missense |
c.994C>T; p.P332S; 3:47706455-47706455 |
skin | malignant_melanoma | Substitution - Missense |
c.1545G>C; p.L515F; 3:47678224-47678224 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1708C>T; p.H570Y; 3:47676646-47676646 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1845A>G; p.K615K; 3:47670712-47670712 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1845A>G; p.K615K; 3:47670712-47670712 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1845A>G; p.K615K; 3:47670712-47670712 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1714C>T; p.R572*; 3:47676640-47676640 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1496G>A; p.R499H; 3:47678273-47678273 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2990C>T; p.P997L; 3:47610119-47610119 |
skin | malignant_melanoma | Substitution - Missense |
c.2817C>T; p.R939R; 3:47610292-47610292 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2317C>G; p.L773V; 3:47661297-47661297 |
skin | malignant_melanoma | Substitution - Missense |
c.2441_2444delAAAA; p.K814fs*10; 3:47636069-47636072 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1689delC; p.S564fs*20; 3:47676665-47676665 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.440G>A; p.R147H; 3:47738072-47738072 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2857C>T; p.R953*; 3:47610252-47610252 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1687C>T; p.P563S; 3:47676667-47676667 |
liver | carcinoma | Substitution - Missense |
c.2332G>C; p.E778Q; 3:47638769-47638769 |
breast | carcinoma | Substitution - Missense |
c.1687C>T; p.P563S; 3:47676667-47676667 |
liver | carcinoma | Substitution - Missense |
c.1348A>G; p.I450V; 3:47686086-47686086 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.539T>C; p.L180S; 3:47736071-47736071 |
skin | malignant_melanoma | Substitution - Missense |
c.2171G>A; p.R724Q; 3:47661443-47661443 |
breast | carcinoma | Substitution - Missense |
c.2674A>G; p.I892V; 3:47622314-47622314 |
kidney | other; neoplasm | Substitution - Missense |
c.1495C>T; p.R499C; 3:47678274-47678274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1495C>T; p.R499C; 3:47678274-47678274 |
skin | malignant_melanoma | Substitution - Missense |
c.1495C>T; p.R499C; 3:47678274-47678274 |
skin | malignant_melanoma | Substitution - Missense |
c.1495C>T; p.R499C; 3:47678274-47678274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1495C>T; p.R499C; 3:47678274-47678274 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2476G>A; p.E826K; 3:47636037-47636037 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2476G>A; p.E826K; 3:47636037-47636037 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1928A>T; p.N643I; 3:47662564-47662564 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1134C>T; p.P378P; 3:47701309-47701309 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1928A>T; p.N643I; 3:47662564-47662564 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1928A>T; p.N643I; 3:47662564-47662564 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2531C>T; p.T844I; 3:47635305-47635305 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2607C>G; p.A869A; 3:47635229-47635229 |
breast | carcinoma | Substitution - coding silent |
c.1554T>C; p.D518D; 3:47678215-47678215 |
breast | carcinoma | Substitution - coding silent |
c.2211T>C; p.H737H; 3:47661403-47661403 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.879T>C; p.P293P; 3:47710722-47710722 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1929C>T; p.N643N; 3:47662563-47662563 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1250C>T; p.T417I; 3:47689400-47689400 |
skin | malignant_melanoma | Substitution - Missense |
c.3003G>C; p.L1001L; 3:47610106-47610106 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1298G>C; p.R433P; 3:47686136-47686136 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3003G>C; p.L1001L; 3:47610106-47610106 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1679C>T; p.A560V; 3:47676675-47676675 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2426A>C; p.D809A; 3:47636087-47636087 |
thyroid | other; neoplasm | Substitution - Missense |
c.1276C>T; p.P426S; 3:47686158-47686158 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1276C>T; p.P426S; 3:47686158-47686158 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.862G>A; p.D288N; 3:47710739-47710739 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1869G>A; p.W623*; 3:47670688-47670688 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2021C>T; p.S674L; 3:47662471-47662471 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3305C>T; p.S1102L; 3:47588222-47588222 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2506G>A; p.E836K; 3:47635330-47635330 |
breast | carcinoma | Substitution - Missense |
c.2059_2060CC>TT; p.P687F; 3:47662432-47662433 |
skin | malignant_melanoma | Substitution - Missense |
c.1916A>G; p.K639R; 3:47662576-47662576 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1472G>A; p.R491Q; 3:47678297-47678297 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.3077G>C; p.G1026A; 3:47590804-47590804 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1472G>A; p.R491Q; 3:47678297-47678297 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1472G>A; p.R491Q; 3:47678297-47678297 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1893C>T; p.L631L; 3:47670664-47670664 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2877A>G; p.E959E; 3:47610232-47610232 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1141G>A; p.E381K; 3:47701302-47701302 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1199T>G; p.V400G; 3:47693267-47693267 |
skin | malignant_melanoma | Substitution - Missense |
c.852T>G; p.D284E; 3:47710749-47710749 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1108G>T; p.D370Y; 3:47701335-47701335 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1176G>T; p.K392N; 3:47693290-47693290 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1176G>T; p.K392N; 3:47693290-47693290 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2177G>T; p.R726L; 3:47661437-47661437 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1926G>C; p.W642C; 3:47662566-47662566 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3140G>A; p.G1047D; 3:47590741-47590741 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.828C>T; p.F276F; 3:47710773-47710773 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.850G>A; p.D284N; 3:47710751-47710751 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3302C>A; p.A1101D; 3:47588225-47588225 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.2889T>C; p.H963H; 3:47610220-47610220 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1371G>T; p.W457C; 3:47686063-47686063 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1978C>T; p.H660Y; 3:47662514-47662514 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772A>G; p.I258V; 3:47714435-47714435 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3043G>A; p.G1015S; 3:47610066-47610066 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1928A>G; p.N643S; 3:47662564-47662564 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3313C>T; p.P1105S; 3:47588214-47588214 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1928A>G; p.N643S; 3:47662564-47662564 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3189C>T; p.P1063P; 3:47590692-47590692 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3189C>T; p.P1063P; 3:47590692-47590692 |
skin | malignant_melanoma | Substitution - coding silent |
c.2551G>A; p.D851N; 3:47635285-47635285 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1367C>G; p.S456*; 3:47686067-47686067 |
liver | carcinoma | Substitution - Nonsense |
c.1586delT; p.L529fs*1; 3:47676768-47676768 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.439C>G; p.R147G; 3:47738073-47738073 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1805G>A; p.R602H; 3:47675509-47675509 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1805G>A; p.R602H; 3:47675509-47675509 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2425G>T; p.D809Y; 3:47636088-47636088 |
thyroid | other; neoplasm | Substitution - Missense |
c.1847G>T; p.G616V; 3:47670710-47670710 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1468T>C; p.Y490H; 3:47678301-47678301 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2883G>A; p.Q961Q; 3:47610226-47610226 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2301C>G; p.P767P; 3:47661313-47661313 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1705C>A; p.L569M; 3:47676649-47676649 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1954C>T; p.R652C; 3:47662538-47662538 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1561G>T; p.A521S; 3:47678208-47678208 |
breast | carcinoma | Substitution - Missense |
c.1256G>A; p.G419E; 3:47689394-47689394 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1243A>G; p.T415A; 3:47689407-47689407 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1385+4A>T; p.?; 3:47686045-47686045 |
liver | carcinoma | Unknown |
c.569G>A; p.R190Q; 3:47736041-47736041 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.823_824delAT; p.I275fs*3; 3:47710777-47710778 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2840_2881del42; p.L947_Q960del14; 3:47610228-47610269 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.1385+4A>T; p.?; 3:47686045-47686045 |
liver | carcinoma | Unknown |
c.1715G>A; p.R572Q; 3:47676639-47676639 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.890G>A; p.R297H; 3:47710711-47710711 |
stomach | adenocarcinoma | Substitution - Missense |
c.3147C>T; p.T1049T; 3:47590734-47590734 |
skin; neck | malignant_melanoma | Substitution - coding silent |