| General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction |
Basic Information | |||
|---|---|---|---|
Gene ID | 6662 | ||
Name | SOX9 | ||
The somatic mutations from COSMIC database | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1240_1241insCG; p.P415fs*56; 17:72124097-72124098 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1240_1241insCG; p.P415fs*56; 17:72124097-72124098 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1240_1241insCG; p.P415fs*56; 17:72124097-72124098 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.359G>T; p.R120L; 17:72121750-72121750 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.568G>C; p.E190Q; 17:72122855-72122855 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.568G>C; p.E190Q; 17:72122855-72122855 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.336C>A; p.F112L; 17:72121727-72121727 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1300delC; p.I435fs*35; 17:72124157-72124157 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.622C>T; p.Q208*; 17:72122909-72122909 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.68_69insCC; p.T25fs*37; 17:72121459-72121460 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1457T>C; p.V486A; 17:72124314-72124314 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1231C>T; p.Q411*; 17:72124088-72124088 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1237_1238insTG; p.H413fs*58; 17:72124094-72124095 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.526C>T; p.P176S; 17:72122813-72122813 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.591_592insTC; p.I198fs*22; 17:72122878-72122879 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1421_1422insC; p.M476fs*>35; 17:72124278-72124279 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.526C>T; p.P176S; 17:72122813-72122813 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.591_592insTC; p.I198fs*22; 17:72122878-72122879 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.640T>C; p.S214P; 17:72122927-72122927 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1283A>G; p.Y428C; 17:72124140-72124140 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1484C>T; p.P495L; 17:72124341-72124341 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.220C>T; p.R74C; 17:72121611-72121611 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1249C>T; p.Q417*; 17:72124106-72124106 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1249C>T; p.Q417*; 17:72124106-72124106 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.496_498delAAG; p.K166delK; 17:72122783-72122785 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - In frame |
c.496_498delAAG; p.K166delK; 17:72122783-72122785 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - In frame |
c.496_498delAAG; p.K166delK; 17:72122783-72122785 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.496_498delAAG; p.K166delK; 17:72122783-72122785 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.1529G>C; p.*510S; 17:72124386-72124386 |
breast | carcinoma | Nonstop extension |
c.767_768insGC; p.P258fs*22; 17:72123624-72123625 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.791G>C; p.R264T; 17:72123648-72123648 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.486_487insGT; p.Q164fs*20; 17:72122773-72122774 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.791G>C; p.R264T; 17:72123648-72123648 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.426C>T; p.L142L; 17:72121817-72121817 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.92C>T; p.A31V; 17:72121483-72121483 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1343_1344delCC; p.S448fs*1; 17:72124200-72124201 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.500A>C; p.K167T; 17:72122787-72122787 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1330G>A; p.D444N; 17:72124187-72124187 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.684delG; p.Q230fs*23; 17:72122971-72122971 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.761G>A; p.R254Q; 17:72123618-72123618 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1344C>T; p.S448S; 17:72124201-72124201 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1421G>A; p.R474H; 17:72124278-72124278 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1133_1134insGG; p.A379fs*5; 17:72123990-72123991 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.260C>A; p.T87K; 17:72121651-72121651 |
liver | carcinoma | Substitution - Missense |
c.686-1G>A; p.?; 17:72123542-72123542 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.723C>T; p.P241P; 17:72123580-72123580 |
meninges | meningioma | Substitution - coding silent |
c.62delC; p.S23fs*38; 17:72121453-72121453 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.453_455delGCG; p.R152delR; 17:72122740-72122742 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.517_518insAAT; p.K173_Y174ins*; 17:72122804-72122805 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - In frame |
c.1436C>A; p.P479H; 17:72124293-72124293 |
pancreas | carcinoma | Substitution - Missense |
c.1436C>A; p.P479H; 17:72124293-72124293 |
pancreas | carcinoma | Substitution - Missense |
c.1436C>A; p.P479H; 17:72124293-72124293 |
pancreas | carcinoma | Substitution - Missense |
c.1436C>A; p.P479H; 17:72124293-72124293 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1436C>A; p.P479H; 17:72124293-72124293 |
pancreas | carcinoma | Substitution - Missense |
c.1279_1301del23; p.Y428fs*>75; 17:72124136-72124158 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.274C>T; p.P92S; 17:72121665-72121665 |
haematopoietic_and_lymphoid_tissue; soft_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1260C>T; p.Y420Y; 17:72124117-72124117 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1353C>T; p.Y451Y; 17:72124210-72124210 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1353C>T; p.Y451Y; 17:72124210-72124210 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1378A>C; p.T460P; 17:72124235-72124235 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.395A>G; p.N132S; 17:72121786-72121786 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1378A>C; p.T460P; 17:72124235-72124235 |
thyroid | other; neoplasm | Substitution - Missense |
c.1378A>C; p.T460P; 17:72124235-72124235 |
breast | carcinoma | Substitution - Missense |
c.736C>T; p.Q246*; 17:72123593-72123593 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.229G>C; p.V77L; 17:72121620-72121620 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.612C>T; p.F204F; 17:72122899-72122899 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.514T>C; p.Y172H; 17:72122801-72122801 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.437delT; p.L146fs*37; 17:72122724-72122724 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1422_1423insC; p.M476fs*>35; 17:72124279-72124280 |
stomach | carcinoma; diffuse_adenocarcinoma | Insertion - Frameshift |
c.770G>A; p.R257H; 17:72123627-72123627 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1450T>G; p.S484A; 17:72124307-72124307 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1183_1184insCG; p.H396fs*8; 17:72124040-72124041 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1096delC; p.P367fs*16; 17:72123953-72123953 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1349delC; p.Y451fs*19; 17:72124206-72124206 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1349_1350CC>TT; p.S450F; 17:72124206-72124207 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.861G>A; p.E287E; 17:72123718-72123718 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.861G>A; p.E287E; 17:72123718-72123718 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.598C>T; p.P200S; 17:72122885-72122885 |
skin | malignant_melanoma | Substitution - Missense |
c.172C>T; p.P58S; 17:72121563-72121563 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.507C>T; p.H169H; 17:72122794-72122794 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1180C>T; p.R394*; 17:72124037-72124037 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.507C>T; p.H169H; 17:72122794-72122794 |
thyroid | other; neoplasm | Substitution - coding silent |
c.507C>T; p.H169H; 17:72122794-72122794 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.507C>T; p.H169H; 17:72122794-72122794 |
breast | carcinoma | Substitution - coding silent |
c.507C>T; p.H169H; 17:72122794-72122794 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.344G>A; p.W115*; 17:72121735-72121735 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.761_762delGA; p.E255fs*40; 17:72123618-72123619 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1243delC; p.Q416fs*54; 17:72124100-72124100 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1243delC; p.Q416fs*54; 17:72124100-72124100 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1015C>T; p.Q339*; 17:72123872-72123872 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.352G>A; p.A118T; 17:72121743-72121743 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.473C>T; p.A158V; 17:72122760-72122760 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1291_1292insCCTAC; p.P434fs*38; 17:72124148-72124149 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.868G>A; p.D290N; 17:72123725-72123725 |
skin | malignant_melanoma | Substitution - Missense |
c.1267delT; p.F423fs*47; 17:72124124-72124124 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1225delG; p.E409fs*61; 17:72124082-72124082 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1418A>G; p.Q473R; 17:72124275-72124275 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.202A>G; p.K68E; 17:72121593-72121593 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.859G>A; p.E287K; 17:72123716-72123716 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.31A>G; p.T11A; 17:72121422-72121422 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.204G>A; p.K68K; 17:72121595-72121595 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.204G>A; p.K68K; 17:72121595-72121595 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.570G>A; p.E190E; 17:72122857-72122857 |
skin | malignant_melanoma | Substitution - coding silent |
c.204G>A; p.K68K; 17:72121595-72121595 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.993G>A; p.A331A; 17:72123850-72123850 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.871_872insTCAA; p.E293fs*4; 17:72123728-72123729 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.915_916insGT; p.P307fs*77; 17:72123772-72123773 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1199_1200insGC; p.Q401fs*3; 17:72124056-72124057 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.223G>A; p.E75K; 17:72121614-72121614 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.771delC; p.L259fs*20; 17:72123628-72123628 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.566C>T; p.A189V; 17:72122853-72122853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.771delC; p.L259fs*20; 17:72123628-72123628 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.223G>A; p.E75K; 17:72121614-72121614 |
breast | carcinoma | Substitution - Missense |
c.223G>A; p.E75K; 17:72121614-72121614 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.807C>A; p.D269E; 17:72123664-72123664 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.192C>A; p.S64R; 17:72121583-72121583 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.250T>G; p.Y84D; 17:72121641-72121641 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.816_817insGT; p.D274fs*6; 17:72123673-72123674 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.760C>T; p.R254*; 17:72123617-72123617 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.782_783insG; p.R264fs*32; 17:72123639-72123640 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.782_783insG; p.R264fs*32; 17:72123639-72123640 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1293_1294insT; p.Y432fs*>79; 17:72124150-72124151 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.529C>T; p.R177W; 17:72122816-72122816 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.858C>T; p.I286I; 17:72123715-72123715 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1099C>A; p.P367T; 17:72123956-72123956 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.872delT; p.V291fs*92; 17:72123729-72123729 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.376C>T; p.Q126*; 17:72121767-72121767 |
breast | carcinoma | Substitution - Nonsense |
c.72C>G; p.P24P; 17:72121463-72121463 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.258G>A; p.W86*; 17:72121649-72121649 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.579_580insGAGC; p.Q195fs*58; 17:72122866-72122867 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1090G>A; p.A364T; 17:72123947-72123947 |
liver | carcinoma | Substitution - Missense |
c.611T>A; p.F204Y; 17:72122898-72122898 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1090G>A; p.A364T; 17:72123947-72123947 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.494A>G; p.H165R; 17:72122781-72122781 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.57C>T; p.S19S; 17:72121448-72121448 |
kidney | other; neoplasm | Substitution - coding silent |
c.595_596insC; p.N201fs*51; 17:72122882-72122883 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.866_867insC; p.D290fs*6; 17:72123723-72123724 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.183_184insA; p.E63fs*189; 17:72121574-72121575 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.347C>T; p.A116V; 17:72121738-72121738 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1105C>T; p.Q369*; 17:72123962-72123962 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.912delG; p.V306fs*77; 17:72123769-72123769 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.912delG; p.V306fs*77; 17:72123769-72123769 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.610_611insAAG; p.F204>*; 17:72122897-72122898 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.314T>G; p.V105G; 17:72121705-72121705 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.742_743insGC; p.K249fs*5; 17:72123599-72123600 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1241C>A; p.S414*; 17:72124098-72124098 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1452_1453insG; p.V486fs*>25; 17:72124309-72124310 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1196_1197insG; p.E400fs*>111; 17:72124053-72124054 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.524A>C; p.Q175P; 17:72122811-72122811 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.698_699insCC; p.P235fs*19; 17:72123555-72123556 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1438A>T; p.I480F; 17:72124295-72124295 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.281G>A; p.R94H; 17:72121672-72121672 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.703C>G; p.P235A; 17:72123560-72123560 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.503A>G; p.D168G; 17:72122790-72122790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1316_1317insG; p.Y440fs*>71; 17:72124173-72124174 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1226_1228delAGC; p.Q412delQ; 17:72124083-72124085 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.1523G>A; p.R508Q; 17:72124380-72124380 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1239_1241delCTC; p.H413_S414>Q; 17:72124096-72124098 |
large_intestine; colon | carcinoma; adenocarcinoma | Complex - deletion inframe |
c.1225G>T; p.E409*; 17:72124082-72124082 |
large_intestine; colon | adenoma | Substitution - Nonsense |
c.37G>A; p.E13K; 17:72121428-72121428 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.421A>G; p.K141E; 17:72121812-72121812 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.61G>A; p.A21T; 17:72121452-72121452 |
prostate | adenoma | Substitution - Missense |
c.37G>A; p.E13K; 17:72121428-72121428 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1347_1348insTCCT; p.Y451fs*>61; 17:72124204-72124205 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.436C>A; p.L146M; 17:72122723-72122723 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.436C>A; p.L146M; 17:72122723-72122723 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.436C>A; p.L146M; 17:72122723-72122723 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.436C>A; p.L146M; 17:72122723-72122723 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.436C>A; p.L146M; 17:72122723-72122723 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.436C>A; p.L146M; 17:72122723-72122723 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.436C>A; p.L146M; 17:72122723-72122723 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.796delC; p.P267fs*12; 17:72123653-72123653 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1181G>C; p.R394P; 17:72124038-72124038 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454C>T; p.R152W; 17:72122741-72122741 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.332C>T; p.A111V; 17:72121723-72121723 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.877G>A; p.E293K; 17:72123734-72123734 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.341T>C; p.V114A; 17:72121732-72121732 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.911_912insGG; p.V306fs*78; 17:72123768-72123769 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1246C>T; p.Q416*; 17:72124103-72124103 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.783delG; p.G263fs*16; 17:72123640-72123640 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1370_1371insC; p.Q458fs*>53; 17:72124227-72124228 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.764_765insGG; p.R257fs*23; 17:72123621-72123622 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.764_765insGG; p.R257fs*23; 17:72123621-72123622 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.516C>G; p.Y172*; 17:72122803-72122803 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.809_810insC; p.R271fs*25; 17:72123666-72123667 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1243_1244insGC; p.P415fs*56; 17:72124100-72124101 |
large_intestine; colon | carcinoma | Insertion - Frameshift |
c.1395C>G; p.T465T; 17:72124252-72124252 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1332C>A; p.D444E; 17:72124189-72124189 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.810C>A; p.F270L; 17:72123667-72123667 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.911_912insG; p.V306fs*>205; 17:72123768-72123769 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1442C>G; p.A481G; 17:72124299-72124299 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1449_1450delCT; p.S484fs*>26; 17:72124306-72124307 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.897G>A; p.P299P; 17:72123754-72123754 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.765_766insG; p.R257fs*39; 17:72123622-72123623 |
pancreas | carcinoma | Insertion - Frameshift |
c.105C>A; p.C35*; 17:72121496-72121496 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1481G>A; p.S494N; 17:72124338-72124338 |
skin | malignant_melanoma | Substitution - Missense |
c.1420C>T; p.R474C; 17:72124277-72124277 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1033delC; p.P346fs*37; 17:72123890-72123890 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1183A>G; p.T395A; 17:72124040-72124040 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1314delA; p.Q439fs*31; 17:72124171-72124171 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.229G>T; p.V77F; 17:72121620-72121620 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.916G>T; p.V306L; 17:72123773-72123773 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |