| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 23137 |
Name | SMC5 |
Synonymous | structural maintenance of chromosomes 5;SMC5;structural maintenance of chromosomes 5 |
Definition | SMC protein 5|SMC-5|SMC5 structural maintenance of chromosomes 5-like 1|hSMC5|structural maintenance of chromosomes protein 5 |
Position | 9q21.12 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2449delA; p.K817fs*4; 9:70344195-70344195 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3118A>G; p.T1040A; 9:70350424-70350424 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1681G>T; p.G561*; 9:70315453-70315453 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.361G>T; p.G121C; 9:70267956-70267956 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.3153C>T; p.F1051F; 9:70350459-70350459 |
skin | malignant_melanoma | Substitution - coding silent |
c.2635G>C; p.A879P; 9:70347132-70347132 |
prostate | adenoma | Substitution - Missense |
c.2079G>C; p.K693N; 9:70318892-70318892 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2953G>A; p.E985K; 9:70350177-70350177 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.835C>T; p.R279C; 9:70282437-70282437 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2665-1G>C; p.?; 9:70347612-70347612 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.835C>T; p.R279C; 9:70282437-70282437 |
skin | malignant_melanoma | Substitution - Missense |
c.835C>T; p.R279C; 9:70282437-70282437 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2374T>C; p.S792P; 9:70324120-70324120 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2374T>C; p.S792P; 9:70324120-70324120 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.919A>C; p.T307P; 9:70282521-70282521 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1962_1973del12; p.H654_E657delHLEE; 9:70318669-70318680 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Deletion - In frame |
c.1962_1973del12; p.H654_E657delHLEE; 9:70318669-70318680 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Deletion - In frame |
c.2002G>A; p.A668T; 9:70318815-70318815 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2776G>T; p.E926*; 9:70347925-70347925 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.882A>C; p.E294D; 9:70282484-70282484 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.539C>A; p.P180H; 9:70277468-70277468 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.539C>A; p.P180H; 9:70277468-70277468 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.982-1G>T; p.?; 9:70286199-70286199 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.2633G>C; p.R878T; 9:70347130-70347130 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.977A>G; p.E326G; 9:70282579-70282579 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2446T>G; p.C816G; 9:70344192-70344192 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2899G>C; p.D967H; 9:70350123-70350123 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1977A>G; p.L659L; 9:70318684-70318684 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2899G>C; p.D967H; 9:70350123-70350123 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3197T>G; p.M1066R; 9:70352222-70352222 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2242_2247delAAACTT; p.K748_L749delKL; 9:70323574-70323579 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - In frame |
c.1953G>T; p.Q651H; 9:70318660-70318660 |
liver | carcinoma | Substitution - Missense |
c.2440C>G; p.Q814E; 9:70344186-70344186 |
breast | carcinoma | Substitution - Missense |
c.541C>T; p.Q181*; 9:70277470-70277470 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.541C>T; p.Q181*; 9:70277470-70277470 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.589G>A; p.E197K; 9:70278536-70278536 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1141G>A; p.E381K; 9:70298053-70298053 |
breast | carcinoma | Substitution - Missense |
c.2552A>G; p.N851S; 9:70346633-70346633 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1179C>T; p.C393C; 9:70298091-70298091 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3279C>T; p.R1093R; 9:70352304-70352304 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2743G>C; p.D915H; 9:70347691-70347691 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2636C>A; p.A879D; 9:70347133-70347133 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.802G>T; p.A268S; 9:70280882-70280882 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.2197C>T; p.R733*; 9:70323529-70323529 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3181C>T; p.P1061S; 9:70352206-70352206 |
skin | malignant_melanoma | Substitution - Missense |
c.583C>A; p.L195I; 9:70278530-70278530 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2521A>G; p.T841A; 9:70344267-70344267 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.772C>T; p.R258*; 9:70280852-70280852 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.2562C>T; p.L854L; 9:70346643-70346643 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2747A>G; p.Q916R; 9:70347695-70347695 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.858A>G; p.K286K; 9:70282460-70282460 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2285C>A; p.S762Y; 9:70324031-70324031 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1796G>C; p.R599T; 9:70315568-70315568 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2024C>T; p.A675V; 9:70318837-70318837 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.954C>T; p.H318H; 9:70282556-70282556 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3276G>A; p.R1092R; 9:70352301-70352301 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.709C>T; p.Q237*; 9:70280789-70280789 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2376T>C; p.S792S; 9:70324122-70324122 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2376T>C; p.S792S; 9:70324122-70324122 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2376T>C; p.S792S; 9:70324122-70324122 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2376T>C; p.S792S; 9:70324122-70324122 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.722A>C; p.Q241P; 9:70280802-70280802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2369C>T; p.A790V; 9:70324115-70324115 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2369C>T; p.A790V; 9:70324115-70324115 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2369C>T; p.A790V; 9:70324115-70324115 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.247G>A; p.G83R; 9:70264365-70264365 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.718G>C; p.V240L; 9:70280798-70280798 |
fallopian_tube | carcinoma; serous_carcinoma | Substitution - Missense |
c.2118A>C; p.Q706H; 9:70318931-70318931 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3046A>G; p.R1016G; 9:70350270-70350270 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.400C>T; p.L134F; 9:70277329-70277329 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.995A>T; p.K332M; 9:70286213-70286213 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.263G>C; p.S88T; 9:70264381-70264381 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.850G>C; p.E284Q; 9:70282452-70282452 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3G>T; p.M1I; 9:70259081-70259081 |
skin | malignant_melanoma | Substitution - Missense |
c.3275G>A; p.R1092Q; 9:70352300-70352300 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1388C>T; p.T463M; 9:70300124-70300124 |
skin | malignant_melanoma | Substitution - Missense |
c.1582C>T; p.R528C; 9:70314745-70314745 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2942C>G; p.T981S; 9:70350166-70350166 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1551A>G; p.Q517Q; 9:70305333-70305333 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2914C>T; p.R972*; 9:70350138-70350138 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2914C>T; p.R972*; 9:70350138-70350138 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2914C>T; p.R972*; 9:70350138-70350138 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2914C>T; p.R972*; 9:70350138-70350138 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2914C>T; p.R972*; 9:70350138-70350138 |
breast | carcinoma | Substitution - Nonsense |
c.2914C>T; p.R972*; 9:70350138-70350138 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2914C>T; p.R972*; 9:70350138-70350138 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3277C>T; p.R1093C; 9:70352302-70352302 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.436C>T; p.Q146*; 9:70277365-70277365 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2534C>T; p.T845I; 9:70346615-70346615 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2185G>A; p.E729K; 9:70323517-70323517 |
skin | malignant_melanoma | Substitution - Missense |
c.1920G>A; p.A640A; 9:70318627-70318627 |
prostate | carcinoma | Substitution - coding silent |
c.767G>A; p.R256Q; 9:70280847-70280847 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1574A>T; p.K525I; 9:70305356-70305356 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1673+1G>A; p.?; 9:70314837-70314837 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1854G>T; p.K618N; 9:70318561-70318561 |
breast | carcinoma | Substitution - Missense |
c.1618G>A; p.A540T; 9:70314781-70314781 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3216C>T; p.Y1072Y; 9:70352241-70352241 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1747C>G; p.Q583E; 9:70315519-70315519 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.656G>C; p.R219T; 9:70278603-70278603 |
breast | carcinoma | Substitution - Missense |
c.721C>T; p.Q241*; 9:70280801-70280801 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.675C>T; p.L225L; 9:70278622-70278622 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.723G>A; p.Q241Q; 9:70280803-70280803 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.675C>T; p.L225L; 9:70278622-70278622 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.675C>T; p.L225L; 9:70278622-70278622 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2568+1G>A; p.?; 9:70346650-70346650 |
skin; hand | carcinoma; squamous_cell_carcinoma | Unknown |
c.2125_2126insAA; p.I711fs*6; 9:70318938-70318939 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2932C>T; p.R978*; 9:70350156-70350156 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2932C>T; p.R978*; 9:70350156-70350156 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2932C>T; p.R978*; 9:70350156-70350156 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2890-1G>T; p.?; 9:70350113-70350113 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.2927A>G; p.K976R; 9:70350151-70350151 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2932C>T; p.R978*; 9:70350156-70350156 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.944A>G; p.N315S; 9:70282546-70282546 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2215A>G; p.I739V; 9:70323547-70323547 |
liver | carcinoma | Substitution - Missense |
c.2215A>G; p.I739V; 9:70323547-70323547 |
liver | carcinoma | Substitution - Missense |
c.272G>T; p.C91F; 9:70264390-70264390 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2503C>A; p.L835I; 9:70344249-70344249 |
liver | carcinoma | Substitution - Missense |
c.651C>T; p.N217N; 9:70278598-70278598 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.927A>T; p.R309R; 9:70282529-70282529 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2375C>A; p.S792Y; 9:70324121-70324121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1654A>G; p.R552G; 9:70314817-70314817 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2209A>G; p.T737A; 9:70323541-70323541 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.865C>T; p.R289C; 9:70282467-70282467 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.865C>T; p.R289C; 9:70282467-70282467 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.676G>A; p.E226K; 9:70278623-70278623 |
skin | malignant_melanoma | Substitution - Missense |
c.2603T>C; p.I868T; 9:70347100-70347100 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1093G>T; p.E365*; 9:70298005-70298005 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.922T>C; p.C308R; 9:70282524-70282524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.922T>C; p.C308R; 9:70282524-70282524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1093G>T; p.E365*; 9:70298005-70298005 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1620T>C; p.A540A; 9:70314783-70314783 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2113A>T; p.R705*; 9:70318926-70318926 |
pancreas | carcinoma | Substitution - Nonsense |
c.1620T>C; p.A540A; 9:70314783-70314783 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1274G>A; p.R425Q; 9:70298186-70298186 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1619C>A; p.A540D; 9:70314782-70314782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1750T>C; p.Y584H; 9:70315522-70315522 |
kidney | other; neoplasm | Substitution - Missense |
c.1221G>C; p.L407L; 9:70298133-70298133 |
breast | carcinoma | Substitution - coding silent |
c.260C>T; p.S87L; 9:70264378-70264378 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.260C>T; p.S87L; 9:70264378-70264378 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1807-7G>A; p.?; 9:70318507-70318507 |
liver | carcinoma | Unknown |
c.1807-7G>A; p.?; 9:70318507-70318507 |
liver | carcinoma | Unknown |
c.2999C>T; p.T1000I; 9:70350223-70350223 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2869G>A; p.D957N; 9:70348018-70348018 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.327+4A>T; p.?; 9:70264449-70264449 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.2869G>A; p.D957N; 9:70348018-70348018 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1570C>T; p.L524F; 9:70305352-70305352 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2710A>G; p.T904A; 9:70347658-70347658 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3103G>A; p.E1035K; 9:70350409-70350409 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.1726G>T; p.V576L; 9:70315498-70315498 |
breast | carcinoma | Substitution - Missense |
c.44C>T; p.P15L; 9:70259122-70259122 |
skin | malignant_melanoma | Substitution - Missense |
c.1724C>T; p.P575L; 9:70315496-70315496 |
skin | malignant_melanoma | Substitution - Missense |
c.1274G>C; p.R425P; 9:70298186-70298186 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2431A>G; p.R811G; 9:70344177-70344177 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1919C>T; p.A640V; 9:70318626-70318626 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1919C>T; p.A640V; 9:70318626-70318626 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1919C>T; p.A640V; 9:70318626-70318626 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.283C>T; p.L95F; 9:70264401-70264401 |
skin | malignant_melanoma | Substitution - Missense |
c.1257C>T; p.G419G; 9:70298169-70298169 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.926G>A; p.R309Q; 9:70282528-70282528 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.283C>T; p.L95F; 9:70264401-70264401 |
skin | malignant_melanoma | Substitution - Missense |
c.2032G>T; p.E678*; 9:70318845-70318845 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1497T>A; p.Y499*; 9:70305279-70305279 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.95G>A; p.R32K; 9:70259173-70259173 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2788A>G; p.N930D; 9:70347937-70347937 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1672A>T; p.K558*; 9:70314835-70314835 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2649G>A; p.T883T; 9:70347146-70347146 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1780G>A; p.E594K; 9:70315552-70315552 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2817T>G; p.I939M; 9:70347966-70347966 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3171G>A; p.L1057L; 9:70352196-70352196 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - coding silent |
c.1493A>C; p.K498T; 9:70305275-70305275 |
skin | malignant_melanoma | Substitution - Missense |
c.2196G>T; p.E732D; 9:70323528-70323528 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2890G>A; p.E964K; 9:70350114-70350114 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2872C>T; p.L958F; 9:70348021-70348021 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.209C>A; p.S70Y; 9:70264327-70264327 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3107T>G; p.M1036R; 9:70350413-70350413 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.806A>G; p.K269R; 9:70280886-70280886 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.198T>C; p.I66I; 9:70264316-70264316 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1969G>A; p.E657K; 9:70318676-70318676 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3239C>T; p.P1080L; 9:70352264-70352264 |
skin | malignant_melanoma | Substitution - Missense |
c.2651G>A; p.G884E; 9:70347148-70347148 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2240C>A; p.A747E; 9:70323572-70323572 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2393C>T; p.T798I; 9:70324139-70324139 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2935A>G; p.S979G; 9:70350159-70350159 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1619C>T; p.A540V; 9:70314782-70314782 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2336C>T; p.S779F; 9:70324082-70324082 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2756delA; p.N920fs*5; 9:70347704-70347704 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |