| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 84678 |
Name | KDM2B |
Synonymous | lysine (K)-specific demethylase 2B;KDM2B;lysine (K)-specific demethylase 2B |
Definition | CXXC-type zinc finger protein 2|F-box and leucine-rich repeat protein 10|F-box protein FBL10|F-box/LRR-repeat protein 10|JEMMA (Jumonji domain, EMSY-interactor, methyltransferase motif) protein|[Histone-H3]-lysine-36 demethylase 1B|jmjC domain-containing |
Position | 12q24.31 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2251T>C; p.S751P; 12:121441184-121441184 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2251T>C; p.S751P; 12:121441184-121441184 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1275G>A; p.P425P; 12:121444105-121444105 |
skin | malignant_melanoma | Substitution - coding silent |
c.2777C>T; p.S926F; 12:121430439-121430439 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1350G>T; p.E450D; 12:121444030-121444030 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2381T>C; p.V794A; 12:121440962-121440962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.967A>T; p.M323L; 12:121445328-121445328 |
liver | carcinoma | Substitution - Missense |
c.967A>T; p.M323L; 12:121445328-121445328 |
liver | carcinoma | Substitution - Missense |
c.1711_1713delAAG; p.K571delK; 12:121442645-121442647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.1150G>T; p.G384C; 12:121444230-121444230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1775A>G; p.E592G; 12:121442583-121442583 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1933_1934insC; p.R645fs*48; 12:121442424-121442425 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.898G>A; p.V300M; 12:121445397-121445397 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.204C>T; p.G68G; 12:121509927-121509927 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1273C>T; p.P425S; 12:121444107-121444107 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2063G>T; p.S688I; 12:121442295-121442295 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2304C>A; p.L768L; 12:121441131-121441131 |
breast | carcinoma | Substitution - coding silent |
c.2361G>T; p.L787L; 12:121441074-121441074 |
breast | carcinoma | Substitution - coding silent |
c.1933delC; p.R645fs*37; 12:121442425-121442425 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1755G>C; p.L585L; 12:121442603-121442603 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2362C>A; p.P788T; 12:121441073-121441073 |
liver | carcinoma | Substitution - Missense |
c.2070_2071insC; p.D692fs*1; 12:121442287-121442288 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.2860A>G; p.I954V; 12:121430356-121430356 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2362C>A; p.P788T; 12:121441073-121441073 |
liver | carcinoma | Substitution - Missense |
c.2098G>A; p.A700T; 12:121442260-121442260 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.450G>T; p.E150D; 12:121509681-121509681 |
prostate | carcinoma | Substitution - Missense |
c.933C>T; p.D311D; 12:121445362-121445362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.745C>T; p.R249W; 12:121453251-121453251 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma | Substitution - Missense |
c.2487G>A; p.Q829Q; 12:121440856-121440856 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1861G>A; p.E621K; 12:121442497-121442497 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1273C>A; p.P425T; 12:121444107-121444107 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.321C>T; p.F107F; 12:121509810-121509810 |
skin | malignant_melanoma | Substitution - coding silent |
c.1351C>T; p.L451L; 12:121444029-121444029 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.831C>A; p.G277G; 12:121453165-121453165 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.199G>T; p.E67*; 12:121509932-121509932 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1639G>A; p.D547N; 12:121442719-121442719 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2011C>T; p.P671S; 12:121442347-121442347 |
skin | malignant_melanoma | Substitution - Missense |
c.1335C>T; p.Y445Y; 12:121444045-121444045 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1335C>T; p.Y445Y; 12:121444045-121444045 |
breast | carcinoma | Substitution - coding silent |
c.418G>C; p.E140Q; 12:121509713-121509713 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2016C>T; p.P672P; 12:121442342-121442342 |
skin | malignant_melanoma | Substitution - coding silent |
c.2857T>C; p.F953L; 12:121430359-121430359 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.409C>T; p.P137S; 12:121509722-121509722 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.196G>A; p.E66K; 12:121509935-121509935 |
breast | carcinoma | Substitution - Missense |
c.1027G>T; p.E343*; 12:121444530-121444530 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.478G>A; p.V160M; 12:121509653-121509653 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2893C>A; p.Q965K; 12:121430323-121430323 |
breast | carcinoma | Substitution - Missense |
c.1520delA; p.K507fs*66; 12:121442993-121442993 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1704G>A; p.E568E; 12:121442654-121442654 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.210C>T; p.G70G; 12:121509921-121509921 |
ovary | other; neoplasm | Substitution - coding silent |
c.1114C>T; p.R372C; 12:121444266-121444266 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.102G>A; p.R34R; 12:121510029-121510029 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1114C>T; p.R372C; 12:121444266-121444266 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1114C>T; p.R372C; 12:121444266-121444266 |
bone; fibula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.765C>T; p.C255C; 12:121453231-121453231 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.72G>C; p.Q24H; 12:121513295-121513295 |
pancreas | carcinoma | Substitution - Missense |
c.2131G>A; p.A711T; 12:121442227-121442227 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.619C>T; p.P207S; 12:121494611-121494611 |
skin | malignant_melanoma | Substitution - Missense |
c.155A>T; p.E52V; 12:121509976-121509976 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2461T>A; p.W821R; 12:121440882-121440882 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.713C>T; p.A238V; 12:121453283-121453283 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2490G>A; p.M830I; 12:121440853-121440853 |
pancreas | carcinoma | Substitution - Missense |
c.393G>T; p.K131N; 12:121509738-121509738 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1877C>T; p.P626L; 12:121442481-121442481 |
skin | malignant_melanoma | Substitution - Missense |
c.1313A>G; p.H438R; 12:121444067-121444067 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1313A>G; p.H438R; 12:121444067-121444067 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1387_1388insC; p.G465fs*38; 12:121443774-121443775 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1703_1705delAGA; p.K571delK; 12:121442653-121442655 |
ovary | carcinoma | Deletion - In frame |
c.1696C>T; p.P566S; 12:121442662-121442662 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.208G>T; p.G70C; 12:121509923-121509923 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2736C>A; p.I912I; 12:121439867-121439867 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2714C>A; p.T905N; 12:121439889-121439889 |
thyroid | carcinoma | Substitution - Missense |
c.329G>A; p.R110K; 12:121509802-121509802 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.831C>G; p.G277G; 12:121453165-121453165 |
liver | carcinoma | Substitution - coding silent |
c.2411C>T; p.S804L; 12:121440932-121440932 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2562C>T; p.I854I; 12:121440041-121440041 |
skin | malignant_melanoma | Substitution - coding silent |
c.2562C>T; p.I854I; 12:121440041-121440041 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.698C>T; p.A233V; 12:121453298-121453298 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1549C>T; p.R517C; 12:121442809-121442809 |
oesophagus | carcinoma | Substitution - Missense |
c.2412G>A; p.S804S; 12:121440931-121440931 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1903C>T; p.R635C; 12:121442455-121442455 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.285C>A; p.A95A; 12:121509846-121509846 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.525_526GG>AA; p.G176S; 12:121509605-121509606 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2396C>T; p.S799L; 12:121440947-121440947 |
pancreas | carcinoma | Substitution - Missense |
c.742C>G; p.R248G; 12:121453254-121453254 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.400A>C; p.T134P; 12:121509731-121509731 |
pancreas | carcinoma | Substitution - Missense |
c.806G>A; p.C269Y; 12:121453190-121453190 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1585A>G; p.K529E; 12:121442773-121442773 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.521C>T; p.P174L; 12:121509610-121509610 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.788G>A; p.C263Y; 12:121453208-121453208 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.788G>A; p.C263Y; 12:121453208-121453208 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1767G>A; p.L589L; 12:121442591-121442591 |
skin | malignant_melanoma | Substitution - coding silent |
c.1575C>T; p.L525L; 12:121442783-121442783 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1841C>T; p.S614L; 12:121442517-121442517 |
skin | malignant_melanoma | Substitution - Missense |
c.1235C>T; p.A412V; 12:121444145-121444145 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1641C>T; p.D547D; 12:121442717-121442717 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1376C>T; p.S459L; 12:121443786-121443786 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.658G>A; p.A220T; 12:121453338-121453338 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2526A>G; p.P842P; 12:121440817-121440817 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2746G>A; p.D916N; 12:121439857-121439857 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1943G>A; p.R648Q; 12:121442415-121442415 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2785A>G; p.K929E; 12:121430431-121430431 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2140A>T; p.S714C; 12:121442218-121442218 |
liver | carcinoma | Substitution - Missense |
c.980G>C; p.C327S; 12:121445315-121445315 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2391C>T; p.G797G; 12:121440952-121440952 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1273_1274CC>AG; p.P425>?; 12:121444106-121444107 |
large_intestine; caecum | carcinoma; adenocarcinoma | Complex |
c.2491C>T; p.R831W; 12:121440852-121440852 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1624_1625insCC; p.K542fs*32; 12:121442733-121442734 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.317G>A; p.R106Q; 12:121509814-121509814 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1810C>A; p.L604M; 12:121442548-121442548 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.752G>A; p.R251Q; 12:121453244-121453244 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.752G>A; p.R251Q; 12:121453244-121453244 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2672C>T; p.T891I; 12:121439931-121439931 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.2865C>A; p.A955A; 12:121430351-121430351 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.365C>G; p.S122C; 12:121509766-121509766 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1998A>G; p.P666P; 12:121442360-121442360 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.1831C>T; p.P611S; 12:121442527-121442527 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1343C>T; p.P448L; 12:121444037-121444037 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2107G>A; p.V703I; 12:121442251-121442251 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2444G>A; p.R815Q; 12:121440899-121440899 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2196C>T; p.N732N; 12:121442162-121442162 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2643G>T; p.K881N; 12:121439960-121439960 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2919delA; p.K973fs*2; 12:121430297-121430297 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2609G>A; p.R870Q; 12:121439994-121439994 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2587G>T; p.D863Y; 12:121440016-121440016 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.814A>G; p.M272V; 12:121453182-121453182 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1724G>A; p.R575H; 12:121442634-121442634 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2527G>C; p.G843R; 12:121440816-121440816 |
ovary | other; neoplasm | Substitution - Missense |
c.609C>T; p.I203I; 12:121494621-121494621 |
skin | malignant_melanoma | Substitution - coding silent |
c.2158G>C; p.D720H; 12:121442200-121442200 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1666G>A; p.A556T; 12:121442692-121442692 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1666G>A; p.A556T; 12:121442692-121442692 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1666G>A; p.A556T; 12:121442692-121442692 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1080_1081GT>AG; p.C361G; 12:121444476-121444477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>A; p.R249Q; 12:121453250-121453250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.401C>T; p.T134I; 12:121509730-121509730 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.2300C>T; p.S767F; 12:121441135-121441135 |
skin | malignant_melanoma | Substitution - Missense |
c.2300C>T; p.S767F; 12:121441135-121441135 |
skin | malignant_melanoma | Substitution - Missense |
c.1292G>A; p.R431H; 12:121444088-121444088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2527+2T>G; p.?; 12:121440814-121440814 |
skin | malignant_melanoma | Unknown |
c.39G>T; p.V13V; 12:121513328-121513328 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1309G>A; p.V437M; 12:121444071-121444071 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1623C>T; p.P541P; 12:121442735-121442735 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.468G>A; p.L156L; 12:121509663-121509663 |
skin | malignant_melanoma | Substitution - coding silent |
c.2170_2171delTG; p.C724fs*14; 12:121442187-121442188 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1161C>G; p.L387L; 12:121444219-121444219 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2288G>A; p.R763Q; 12:121441147-121441147 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.431A>G; p.K144R; 12:121509700-121509700 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2400G>A; p.W800*; 12:121440943-121440943 |
bone; scapula | chondrosarcoma | Substitution - Nonsense |
c.1327C>T; p.R443W; 12:121444053-121444053 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.596C>T; p.P199L; 12:121494634-121494634 |
skin | malignant_melanoma | Substitution - Missense |
c.839G>A; p.R280H; 12:121453157-121453157 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2228G>A; p.R743H; 12:121441207-121441207 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.839G>A; p.R280H; 12:121453157-121453157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2584C>A; p.L862M; 12:121440019-121440019 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1557G>A; p.A519A; 12:121442801-121442801 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1576C>T; p.R526W; 12:121442782-121442782 |
breast | carcinoma | Substitution - Missense |
c.2805delT; p.H936fs*4; 12:121430411-121430411 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2805delT; p.H936fs*4; 12:121430411-121430411 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2805delT; p.H936fs*4; 12:121430411-121430411 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2805delT; p.H936fs*4; 12:121430411-121430411 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1066T>C; p.W356R; 12:121444491-121444491 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2805delT; p.H936fs*4; 12:121430411-121430411 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2805delT; p.H936fs*4; 12:121430411-121430411 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2805delT; p.H936fs*4; 12:121430411-121430411 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2805delT; p.H936fs*4; 12:121430411-121430411 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.2805delT; p.H936fs*4; 12:121430411-121430411 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.1522C>T; p.R508W; 12:121442836-121442836 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2305G>T; p.D769Y; 12:121441130-121441130 |
ovary | carcinoma | Substitution - Missense |
c.345G>A; p.E115E; 12:121509786-121509786 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |