General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 4163 |
Name | MCC |
Synonymous | mutated in colorectal cancers;MCC;mutated in colorectal cancers |
Definition | colorectal mutant cancer protein |
Position | 5q21 |
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 0.08. |
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.2260C>T; p.R754*; 5:113028983-113028983 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.172-1G>A; p.?; 5:113143361-113143361 |
skin | malignant_melanoma | Unknown |
c.2260C>T; p.R754*; 5:113028983-113028983 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.160G>T; p.A54S; 5:113151320-113151320 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1695C>T; p.D565D; 5:113053908-113053908 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1469C>T; p.S490L; 5:113064158-113064158 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2476G>C; p.E826Q; 5:113027316-113027316 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.552C>T; p.S184S; 5:113104261-113104261 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.552C>T; p.S184S; 5:113104261-113104261 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.739G>A; p.A247T; 5:113101828-113101828 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2422C>T; p.L808F; 5:113027370-113027370 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.552C>A; p.S184S; 5:113104261-113104261 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.2141G>T; p.C714F; 5:113043575-113043575 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1304T>G; p.V435G; 5:113071145-113071145 |
breast | carcinoma | Substitution - Missense |
c.2385G>A; p.M795I; 5:113027407-113027407 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1239A>G; p.Q413Q; 5:113071210-113071210 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1423G>A; p.G475R; 5:113068116-113068116 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2250C>T; p.S750S; 5:113028993-113028993 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1313A>G; p.Y438C; 5:113071136-113071136 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2483C>T; p.S828L; 5:113027309-113027309 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1378G>A; p.E460K; 5:113068161-113068161 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2085+9G>A; p.?; 5:113049084-113049084 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.911C>T; p.P304L; 5:113085228-113085228 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2108C>A; p.P703Q; 5:113043608-113043608 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.858C>T; p.S286S; 5:113085281-113085281 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.703C>T; p.L235L; 5:113101864-113101864 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.386G>A; p.R129Q; 5:113122755-113122755 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.386G>A; p.R129Q; 5:113122755-113122755 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1581C>T; p.A527A; 5:113064046-113064046 |
skin | malignant_melanoma | Substitution - coding silent |
c.1016C>T; p.S339L; 5:113084150-113084150 |
skin | malignant_melanoma | Substitution - Missense |
c.988G>A; p.V330M; 5:113084178-113084178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.988G>A; p.V330M; 5:113084178-113084178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1016C>T; p.S339L; 5:113084150-113084150 |
skin | malignant_melanoma | Substitution - Missense |
c.988G>A; p.V330M; 5:113084178-113084178 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.2227G>T; p.A743S; 5:113029016-113029016 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.988G>A; p.V330M; 5:113084178-113084178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.86A>G; p.K29R; 5:113151394-113151394 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.975+4A>G; p.?; 5:113085160-113085160 |
pancreas | other; adenoma | Unknown |
c.1568G>A; p.S523N; 5:113064059-113064059 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.302G>T; p.G101V; 5:113143230-113143230 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.815G>A; p.R272Q; 5:113101752-113101752 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1232A>G; p.K411R; 5:113071217-113071217 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.907C>T; p.R303C; 5:113085232-113085232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1745C>T; p.A582V; 5:113053858-113053858 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2367G>C; p.K789N; 5:113027425-113027425 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1266G>T; p.E422D; 5:113071183-113071183 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.522C>T; p.C174C; 5:113104291-113104291 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.984G>A; p.E328E; 5:113084182-113084182 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.984G>A; p.E328E; 5:113084182-113084182 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.984G>A; p.E328E; 5:113084182-113084182 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.42G>A; p.S14S; 5:113294344-113294344 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.558C>T; p.A186A; 5:113104255-113104255 |
stomach | adenocarcinoma | Substitution - coding silent |
c.393_394GG>AA; p.M131_D132>IN; 5:113122747-113122748 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Complex - compound substitution |
c.208G>A; p.V70I; 5:113143324-113143324 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.691T>G; p.W231G; 5:113101876-113101876 |
breast | carcinoma | Substitution - Missense |
c.204G>A; p.E68E; 5:113143328-113143328 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1487C>A; p.T496N; 5:113064140-113064140 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.262G>A; p.V88I; 5:113143270-113143270 |
prostate | carcinoma | Substitution - Missense |
c.262G>A; p.V88I; 5:113143270-113143270 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.347A>C; p.E116A; 5:113122794-113122794 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.745C>T; p.L249L; 5:113101822-113101822 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2476G>A; p.E826K; 5:113027316-113027316 |
breast | carcinoma | Substitution - Missense |
c.534G>A; p.K178K; 5:113104279-113104279 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1066-1G>C; p.?; 5:113083009-113083009 |
lung | carcinoma; adenocarcinoma | Unknown |
c.744G>A; p.M248I; 5:113101823-113101823 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2148G>T; p.E716D; 5:113043568-113043568 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.458-1G>T; p.?; 5:113104356-113104356 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.458-1G>T; p.?; 5:113104356-113104356 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.1588G>A; p.V530M; 5:113064039-113064039 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.86A>T; p.K29M; 5:113151394-113151394 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.113G>A; p.R38H; 5:113151367-113151367 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.113G>A; p.R38H; 5:113151367-113151367 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.113G>A; p.R38H; 5:113151367-113151367 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.969C>G; p.I323M; 5:113085170-113085170 |
breast | carcinoma | Substitution - Missense |
c.507G>A; p.L169L; 5:113104306-113104306 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.124A>G; p.T42A; 5:113151356-113151356 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1870G>A; p.A624T; 5:113053733-113053733 |
skin | malignant_melanoma | Substitution - Missense |
c.1694A>G; p.D565G; 5:113053909-113053909 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.318G>A; p.E106E; 5:113122823-113122823 |
skin | malignant_melanoma | Substitution - coding silent |
c.1957C>T; p.R653W; 5:113049221-113049221 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.424G>A; p.E142K; 5:113122717-113122717 |
large_intestine; colon | NS | Substitution - Missense |
c.424G>A; p.E142K; 5:113122717-113122717 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2145C>T; p.S715S; 5:113043571-113043571 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.270G>A; p.A90A; 5:113143262-113143262 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2145C>T; p.S715S; 5:113043571-113043571 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2095G>C; p.D699H; 5:113043621-113043621 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2283C>A; p.F761L; 5:113028960-113028960 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1084G>A; p.E362K; 5:113082990-113082990 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.373A>T; p.N125Y; 5:113122768-113122768 |
breast | carcinoma | Substitution - Missense |
c.9C>T; p.S3S; 5:113294377-113294377 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2406G>T; p.E802D; 5:113027386-113027386 |
pancreas | carcinoma | Substitution - Missense |
c.1107G>C; p.Q369H; 5:113082967-113082967 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2406G>T; p.E802D; 5:113027386-113027386 |
pancreas | carcinoma | Substitution - Missense |
c.2361G>A; p.L787L; 5:113027431-113027431 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1751A>G; p.K584R; 5:113053852-113053852 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2068A>T; p.K690*; 5:113049110-113049110 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1070C>G; p.S357C; 5:113083004-113083004 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1853T>C; p.L618P; 5:113053750-113053750 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.835G>A; p.E279K; 5:113085304-113085304 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.57G>A; p.E19E; 5:113294329-113294329 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1184A>T; p.E395V; 5:113082890-113082890 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1392G>A; p.A464A; 5:113068147-113068147 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1433G>A; p.R478Q; 5:113068106-113068106 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.771C>G; p.N257K; 5:113101796-113101796 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1285G>A; p.E429K; 5:113071164-113071164 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1285G>A; p.E429K; 5:113071164-113071164 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.473T>G; p.L158R; 5:113104340-113104340 |
skin | malignant_melanoma | Substitution - Missense |
c.221C>T; p.T74M; 5:113143311-113143311 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.221C>T; p.T74M; 5:113143311-113143311 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1786G>A; p.D596N; 5:113053817-113053817 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1671C>T; p.C557C; 5:113053932-113053932 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1693G>A; p.D565N; 5:113053910-113053910 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082C>G; p.A361G; 5:113082992-113082992 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1671C>T; p.C557C; 5:113053932-113053932 |
prostate | carcinoma | Substitution - coding silent |
c.805G>T; p.E269*; 5:113101762-113101762 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1561G>A; p.D521N; 5:113064066-113064066 |
skin | malignant_melanoma | Substitution - Missense |
c.545G>C; p.S182T; 5:113104268-113104268 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2375C>T; p.S792L; 5:113027417-113027417 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.863A>G; p.Q288R; 5:113085276-113085276 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2375C>T; p.S792L; 5:113027417-113027417 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2375C>T; p.S792L; 5:113027417-113027417 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.646C>T; p.L216F; 5:113101921-113101921 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1068A>G; p.V356V; 5:113083006-113083006 |
pancreas | carcinoma | Substitution - coding silent |
c.1032G>T; p.R344R; 5:113084134-113084134 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.293G>A; p.R98H; 5:113143239-113143239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1331C>T; p.A444V; 5:113071118-113071118 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.964C>T; p.P322S; 5:113085175-113085175 |
thyroid | carcinoma | Substitution - Missense |
c.1031G>A; p.R344Q; 5:113084135-113084135 |
stomach | adenocarcinoma | Substitution - Missense |
c.1315G>A; p.E439K; 5:113071134-113071134 |
skin | malignant_melanoma | Substitution - Missense |
c.847C>T; p.R283*; 5:113085292-113085292 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1779C>G; p.I593M; 5:113053824-113053824 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1284C>T; p.A428A; 5:113071165-113071165 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1284C>T; p.A428A; 5:113071165-113071165 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1284C>T; p.A428A; 5:113071165-113071165 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1357G>A; p.E453K; 5:113068182-113068182 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.252G>A; p.E84E; 5:113143280-113143280 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1888G>T; p.A630S; 5:113049290-113049290 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2376G>A; p.S792S; 5:113027416-113027416 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1134C>T; p.F378F; 5:113082940-113082940 |
skin | malignant_melanoma | Substitution - coding silent |
c.1391delC; p.A464fs*55; 5:113068148-113068148 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2205C>T; p.A735A; 5:113029038-113029038 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1502G>A; p.R501Q; 5:113064125-113064125 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1955C>T; p.T652M; 5:113049223-113049223 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1955C>T; p.T652M; 5:113049223-113049223 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1789C>T; p.P597S; 5:113053814-113053814 |
skin | malignant_melanoma | Substitution - Missense |
c.1355+5_1355+6ins14; p.?; 5:113071088-113071089 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.140A>G; p.D47G; 5:113151340-113151340 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.805G>A; p.E269K; 5:113101762-113101762 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2170A>G; p.T724A; 5:113043546-113043546 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.229C>T; p.R77C; 5:113143303-113143303 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.325G>A; p.E109K; 5:113122816-113122816 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.580C>A; p.Q194K; 5:113104233-113104233 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1254C>T; p.T418T; 5:113071195-113071195 |
skin | malignant_melanoma | Substitution - coding silent |
c.1438G>T; p.A480S; 5:113068101-113068101 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.58-5C>T; p.?; 5:113151427-113151427 |
liver | carcinoma | Unknown |
c.58-5C>T; p.?; 5:113151427-113151427 |
liver | carcinoma | Unknown |
c.2283C>T; p.F761F; 5:113028960-113028960 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2283C>T; p.F761F; 5:113028960-113028960 |
breast | carcinoma | Substitution - coding silent |
c.410C>T; p.S137F; 5:113122731-113122731 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2283C>T; p.F761F; 5:113028960-113028960 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2283C>T; p.F761F; 5:113028960-113028960 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2283C>T; p.F761F; 5:113028960-113028960 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1444G>A; p.V482M; 5:113068095-113068095 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1444G>A; p.V482M; 5:113068095-113068095 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.827G>A; p.R276K; 5:113101740-113101740 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.435T>A; p.S145S; 5:113122706-113122706 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.489G>C; p.Q163H; 5:113104324-113104324 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1283C>T; p.A428V; 5:113071166-113071166 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2289delT; p.N763fs*3; 5:113028954-113028954 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.875C>T; p.P292L; 5:113085264-113085264 |
skin | malignant_melanoma | Substitution - Missense |
c.2073C>T; p.D691D; 5:113049105-113049105 |
thyroid | other; neoplasm | Substitution - coding silent |
c.241C>T; p.R81C; 5:113143291-113143291 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.376G>A; p.E126K; 5:113122765-113122765 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1384C>T; p.L462F; 5:113068155-113068155 |
skin | malignant_melanoma | Substitution - Missense |
c.241C>T; p.R81C; 5:113143291-113143291 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.241C>T; p.R81C; 5:113143291-113143291 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.65C>A; p.S22*; 5:113151415-113151415 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2006C>T; p.S669F; 5:113049172-113049172 |
skin | malignant_melanoma | Substitution - Missense |
c.1592C>T; p.A531V; 5:113064035-113064035 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2228C>T; p.A743V; 5:113029015-113029015 |
small_intestine | carcinoid-endocrine_tumour | Substitution - Missense |
c.813C>A; p.D271E; 5:113101754-113101754 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1521G>T; p.K507N; 5:113064106-113064106 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |