| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4221 |
Name | MEN1 |
Synonymous | MEAI|MENIN|SCG2;multiple endocrine neoplasia I;MEN1;multiple endocrine neoplasia I |
Definition | endocrine adenomatosis, multiple|menin |
Position | 11q13 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MEN1 | ||
PCGP somatic mutation [Top] | ||
There is no record for MEN1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.50_53delACGA; p.D17fs*101; 11:64334105-64334108 |
pancreas | carcinoid-endocrine_tumour; islet_cell |
c.484G>T; p.V162F; |
large_intestine | carcinoma; adenocarcinoma |
c.652_653delCG; p.R218fs*13; 11:64331940-64331941 |
pancreas | carcinoid-endocrine_tumour |
c.491C>T; p.A164V; 11:64332102-64332102 |
pancreas | carcinoid-endocrine_tumour |
c.959C>T; p.P320L; 11:64330370-64330370 |
parathyroid | adenoma |
c.536A>T; p.E179V; 11:64332057-64332057 |
pancreas | carcinoid-endocrine_tumour; glucagonoma |
c.1045C>T; p.Q349*; 11:64330284-64330284 |
skin | malignant_melanoma |
c.221delG; p.G74fs*45; 11:64333937-64333937 |
parathyroid | hyperplasia |
c.341_376>TC; p.S114fs*60; 11:64333782-64333817 |
parathyroid | hyperplasia |
c.1361_1362delAG; p.K454fs*76; 11:64328853-64328854 |
parathyroid | hyperplasia |
c.1413G>A; p.W471*; 11:64328802-64328802 |
central_nervous_system; fourth_ventricle | glioma; ependymoma_Grade_III-IV |
c.1413G>A; p.W471*; 11:64328802-64328802 |
central_nervous_system; fourth_ventricle | glioma; ependymoma_Grade_III-IV |
c.1413G>A; p.W471*; 11:64328802-64328802 |
central_nervous_system; spinal_cord | glioma; ependymoma_Grade_III-IV |
c.354_356delGAA; p.K119del; 11:64333802-64333804 |
parathyroid | adenoma |
c.754_761delGACTCGCT; p.D252fs*15; 11:64331622-64331629 |
parathyroid | adenoma |
c.1657delT; p.F553fs*6; 11:64328558-64328558 |
parathyroid | adenoma-hyperplasia_NS |
c.252_253insT; p.I85fs*32; 11:64333905-64333906 |
parathyroid | adenoma-hyperplasia_NS |
c.?; p.W341*; |
parathyroid | adenoma-hyperplasia_NS |
c.398_430del33; p.Y133_L143del; 11:64333728-64333760 |
parathyroid | adenoma-hyperplasia_NS |
c.178G>T; p.E60*; 11:64333980-64333980 |
parathyroid | adenoma |
c.292C>T; p.R98*; 11:64333866-64333866 |
parathyroid | adenoma |
c.95C>G; p.P32R; 11:64334063-64334063 |
parathyroid | adenoma |
c.151delA; p.N51fs*68; 11:64334007-64334007 |
parathyroid | adenoma |
c.824+2T>G; p.?; 11:64331225-64331225 |
parathyroid | adenoma |
c.1324C>T; p.Q442*; 11:64329108-64329108 |
parathyroid | adenoma |
c.1327T>C; p.S443P; 11:64329105-64329105 |
parathyroid | adenoma |
c.1482_1483insC; p.K496fs*35; 11:64328732-64328733 |
parathyroid | adenoma |
c.1539_1540insC; p.R516fs*15; 11:64328675-64328676 |
parathyroid | adenoma |
c.325G>T; p.E109*; 11:64333833-64333833 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma |
c.1351-4C>T; p.?; 11:64328868-64328868 |
adrenal_gland; adrenal_gland | adrenal_cortical_hyperplasia |
c.1654A>T; p.T552S; 11:64328561-64328561 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma |
c.378G>A; p.W126*; 11:64333780-64333780 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma |
c.512G>A; p.R171Q; 11:64332081-64332081 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma |
c.?; p.E378V; |
parathyroid | adenoma |
c.?; p.Q584*; |
parathyroid | adenoma |
c.467_468insT; p.V157fs*23; 11:64332125-64332126 |
parathyroid | adenoma |
c.194_219del26; p.P65fs*43; 11:64333939-64333964 |
parathyroid | adenoma |
c.654+3A>G; p.?; 11:64331936-64331936 |
parathyroid | adenoma |
c.654+3A>G; p.?; 11:64331936-64331936 |
parathyroid | adenoma |
c.268delT; p.Y90fs*29; 11:64333890-64333890 |
pituitary | adenoma; PRL |
c.437delT; p.F146fs*39; 11:64333721-64333721 |
parathyroid | adenoma |
c.?; p.A49D; |
parathyroid | adenoma |
c.83_118del36; p.G28_L39del; 11:64334040-64334075 |
parathyroid | adenoma |
c.?; p.W126*; |
parathyroid | adenoma |
c.292delC; p.R98fs*21; 11:64333866-64333866 |
parathyroid | adenoma |
c.794_802del9; p.W265_L267del; 11:64331249-64331257 |
parathyroid | adenoma |
c.372_393del22; p.I125fs*53; 11:64333765-64333786 |
parathyroid | adenoma |
c.?; p.R415*; |
parathyroid | adenoma |
c.981C>G; p.Y327*; 11:64330348-64330348 |
parathyroid | adenoma |
c.1116delC; p.N374fs*3; 11:64329752-64329752 |
lung | carcinoma; small_cell_carcinoma |
c.8_42>GGCCT; p.L3_R14>RP; 11:64334116-64334150 |
parathyroid | hyperplasia |
c.161_162insG; p.I54fs*63; 11:64333996-64333997 |
parathyroid | adenoma |
c.163_173del11; p.P55fs*58; 11:64333985-64333995 |
parathyroid | adenoma |
c.199_202delCCCG; p.A68fs*50; 11:64333956-64333959 |
parathyroid | adenoma |
c.1657delT; p.F553fs*6; 11:64328558-64328558 |
parathyroid | hyperplasia |
c.252_253insT; p.I85fs*32; 11:64333905-64333906 |
parathyroid | hyperplasia |
c.291_292delCC; p.I97fs*19; 11:64333866-64333867 |
parathyroid | adenoma |
c.?; p.R98*; |
parathyroid | adenoma |
c.?; p.R108*; |
parathyroid | hyperplasia |
c.?; p.W341*; |
parathyroid | adenoma |
c.398_430del33; p.Y133_L143del; 11:64333728-64333760 |
parathyroid | adenoma |
c.445+2delTTGG; p.?; 11:64333708-64333711 |
parathyroid | hyperplasia |
c.?; p.G156D; |
parathyroid | adenoma |
c.?; p.Q209*; |
parathyroid | adenoma |
c.?; p.W183R; |
parathyroid | hyperplasia |
c.?; p.A284P; |
parathyroid | adenoma |
c.912+1delG; p.?; 11:64331058-64331058 |
parathyroid | hyperplasia |
c.?; p.K310*; |
parathyroid | adenoma |
c.?; p.E358*; |
parathyroid | adenoma |
c.1154_1155insG; p.E387fs*22; 11:64329713-64329714 |
parathyroid | adenoma |
c.1240_1275del36; p.L414_E425del; 11:64329157-64329192 |
parathyroid | hyperplasia |
c.1360delA; p.K454fs*4; 11:64328855-64328855 |
parathyroid | adenoma |
c.1546_1547insC; p.R516fs*15; 11:64328668-64328669 |
parathyroid | adenoma |
c.?; p.S543*; |
parathyroid | hyperplasia |
c.981_982insAGC; p.Y327_H328insS; 11:64330347-64330348 |
parathyroid | adenoma |
c.124G>A; p.G42S; 11:64334034-64334034 |
parathyroid | adenoma |
c.1162G>T; p.E388*; 11:64329706-64329706 |
parathyroid | adenoma |
c.1378C>T; p.R460*; 11:64328837-64328837 |
parathyroid | adenoma |
c.212_218delCGCCTGG; p.P72fs*45; 11:64333940-64333946 |
pancreas | carcinoid-endocrine_tumour |
c.533_534insC; p.E179fs*1; 11:64332059-64332060 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma |
c.76G>A; p.E26K; 11:64334082-64334082 |
parathyroid | adenoma |
c.322C>T; p.R108*; 11:64333836-64333836 |
parathyroid | adenoma |
c.824+1G>A; p.?; 11:64331226-64331226 |
parathyroid | adenoma |
c.1169_1170ins11; p.G391fs*58; 11:64329698-64329699 |
parathyroid | adenoma |
c.1252G>A; p.D418N; 11:64329180-64329180 |
parathyroid | adenoma |
c.1682T>C; p.M561T; 11:64328533-64328533 |
parathyroid | adenoma |
c.1702_1706delACCAA; p.T568fs*27; 11:64328509-64328513 |
parathyroid | adenoma |
c.445+?C>T; p.?; |
pituitary | adenoma; PRL |
c.403A>T; p.K135*; 11:64333755-64333755 |
soft_tissue; fibrous_tissue_and_uncertain_o | angiofibroma |
c.1074_1075GG>AA; p.E359K; 11:64329793-64329794 |
soft_tissue; fibrous_tissue_and_uncertain_o | angiofibroma |
c.?; p.L152W; |
parathyroid | hyperplasia |
c.405delG; p.D136fs*49; 11:64333753-64333753 |
parathyroid | adenoma |
c.?; p.H139D; |
parathyroid | adenoma |
c.1313_1331del19; p.T438fs*14; 11:64329101-64329119 |
parathyroid | adenoma |
c.258_261delCGCC; p.I86fs*32; 11:64333897-64333900 |
parathyroid | adenoma |
c.44_59del16; p.S15fs*99; 11:64334099-64334114 |
parathyroid | adenoma |
c.?; p.Q450*; |
pancreas | carcinoid-endocrine_tumour; vipoma |
c.?; p.L37P; |
pancreas | carcinoid-endocrine_tumour; vipoma |
c.515A>T; p.D172V; 11:64332078-64332078 |
lung | carcinoid-endocrine_tumour |
c.?; p.Q209*; |
small_intestine; duodenum | carcinoid-endocrine_tumour |
c.?; p.V53I; |
small_intestine; ileum | carcinoid-endocrine_tumour |
c.1050-2A>G; p.?; 11:64329820-64329820 |
pituitary | adenoma; TSH |
c.1539_1540insC; p.R516fs*15; 11:64328675-64328676 |
lung | carcinoid-endocrine_tumour; typical |
c.654+3A>G; p.?; 11:64331936-64331936 |
lung | carcinoid-endocrine_tumour; typical |
c.24_36del13; p.K8fs*107; 11:64334122-64334134 |
lung | carcinoid-endocrine_tumour; atypical |
c.1351delG; p.V451fs*7; 11:64328864-64328864 |
lung | carcinoid-endocrine_tumour; atypical |
c.135G>T; p.E45D; 11:64334023-64334023 |
parathyroid | adenoma-hyperplasia_NS |
c.588_589insA; p.T197fs*21; 11:64332004-64332005 |
parathyroid | adenoma-hyperplasia_NS |
c.?; p.K119del; |
parathyroid | adenoma-hyperplasia_NS |
c.1034delC; p.T346fs*22; 11:64330295-64330295 |
parathyroid | adenoma-hyperplasia_NS |
c.?; p.L175R; |
parathyroid | adenoma-hyperplasia_NS |
c.671_675delAAGGA; p.K224fs*6; 11:64331708-64331712 |
parathyroid | adenoma-hyperplasia_NS |
c.1248C>G; p.F416L; |
thyroid | carcinoma; medullary_carcinoma |
c.1505A>T; p.K502M; 11:64328710-64328710 |
pituitary | adenoma; non_functioning |
c.1230C>A; p.F410L; 11:64329202-64329202 |
pituitary | adenoma; ACTH |
c.242delC; p.D82fs*37; 11:64333916-64333916 |
parathyroid | adenoma-hyperplasia_NS |
c.342delC; p.R115fs*4; 11:64333816-64333816 |
parathyroid | adenoma-hyperplasia_NS |
c.597_597C>GG; p.H199fs*19; 11:64331996-64331996 |
parathyroid | adenoma-hyperplasia_NS |
c.483_484GG>TT; p.V162F; 11:64332109-64332110 |
parathyroid | adenoma-hyperplasia_NS |
c.758C>T; p.S253L; 11:64331625-64331625 |
parathyroid | adenoma-hyperplasia_NS |
c.850G>C; p.A284P; 11:64331121-64331121 |
parathyroid | adenoma-hyperplasia_NS |
c.912+2T>A; p.?; 11:64331057-64331057 |
parathyroid | adenoma-hyperplasia_NS |
c.1739C>G; p.T580R; 11:64328476-64328476 |
parathyroid | adenoma-hyperplasia_NS |
c.1704delC; p.K569fs*19; 11:64328511-64328511 |
parathyroid | adenoma-hyperplasia_NS |
c.111_112insT; p.S38fs*79; 11:64334046-64334047 |
parathyroid | adenoma |
c.725_742del18; p.A242_I247del; 11:64331641-64331658 |
parathyroid | adenoma |
c.802_803delTA; p.Y268fs*1; 11:64331248-64331249 |
parathyroid | adenoma |
c.871C>G; p.P291A; 11:64331100-64331100 |
parathyroid | adenoma |
c.1606C>T; p.Q536*; 11:64328609-64328609 |
parathyroid | adenoma |
c.266T>G; p.L89R; 11:64333892-64333892 |
parathyroid | hyperplasia |
c.1177C>T; p.Q393*; 11:64329691-64329691 |
thymus | carcinoid-endocrine_tumour |
c.247_250delCTGT; p.I85fs*33; 11:64333908-64333911 |
stomach | carcinoid-endocrine_tumour |
c.292C>T; p.R98*; 11:64333866-64333866 |
pancreas | carcinoid-endocrine_tumour; non_functioning |
c.533C>A; p.S178Y; 11:64332060-64332060 |
pancreas | carcinoid-endocrine_tumour; non_functioning |
c.620delG; p.G208fs*16; 11:64331973-64331973 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma |
c.620delG; p.G208fs*16; 11:64331973-64331973 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma |
c.620delG; p.G208fs*16; 11:64331973-64331973 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma |
c.1102_1108delGCCAATG; p.A368fs*7; 11:64329760-64329766 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma |
c.1102_1108delGCCAATG; p.A368fs*7; 11:64329760-64329766 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma |
c.373_374delAT; p.I125fs*54; 11:64333784-64333785 |
NS | carcinoid-endocrine_tumour; gastrinoma |
c.373_374delAT; p.I125fs*54; 11:64333784-64333785 |
NS | carcinoid-endocrine_tumour; gastrinoma |
c.1318_1319delCT; p.L440fs*8; 11:64329113-64329114 |
thymus | carcinoid-endocrine_tumour; ACTH |
c.247_250delCTGT; p.I85fs*33; 11:64333908-64333911 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma |
c.248_272del25; p.L83fs*28; 11:64333886-64333910 |
NS | carcinoid-endocrine_tumour; gastrinoma |
c.256A>T; p.I86F; 11:64333902-64333902 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma |
c.373_374delAT; p.I125fs*54; 11:64333784-64333785 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.376T>G; p.W126G; 11:64333782-64333782 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.434_435insT; p.F146fs*34; 11:64333723-64333724 |
pancreas | carcinoid-endocrine_tumour; insulinoma |
c.476T>G; p.F159C; 11:64332117-64332117 |
NS | carcinoid-endocrine_tumour; gastrinoma |
c.764_765insA; p.L256fs*14; 11:64331618-64331619 |
NS | carcinoid-endocrine_tumour; gastrinoma |
c.1102_1108delGCCAATG; p.A368fs*7; 11:64329760-64329766 |
NS | carcinoid-endocrine_tumour; gastrinoma |
c.1604C>T; p.A535V; 11:64328611-64328611 |
pancreas | carcinoid-endocrine_tumour; insulinoma |
c.1628C>T; p.S543L; 11:64328587-64328587 |
NS | carcinoid-endocrine_tumour; gastrinoma |
c.?; p.E392*; |
pancreas | carcinoid-endocrine_tumour; glucagonoma |
c.266T>G; p.L89R; 11:64333892-64333892 |
pancreas | carcinoid-endocrine_tumour; glucagonoma |
c.?; p.R415*; |
pancreas | carcinoid-endocrine_tumour; non_functioning |
c.794delG; p.W265fs*16; 11:64331257-64331257 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour |
c.1050_1051delCT; p.?; 11:64329817-64329823 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour |
c.124G>A; p.G42S; 11:64334034-64334034 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour |
c.354_356delGAA; p.K119del; 11:64333802-64333804 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour |
c.1033delG; p.A345fs*23; 11:64330296-64330296 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.654+2T>A; p.?; 11:64331937-64331937 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.?; p.H433P; |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma |
c.1033delG; p.A345fs*23; 11:64330296-64330296 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma |
c.?; p.H433P; |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma |
c.?; p.E473*; |
gastrointestinal_tract_(site_indeterminate); lymph_node | carcinoid-endocrine_tumour; gastrinoma |
c.1033delG; p.A345fs*23; 11:64330296-64330296 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma |
c.196_201AGCCCC>T; p.S66fs*49; 11:64333957-64333962 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma |
c.292C>T; p.R98*; 11:64333866-64333866 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma |
c.402delC; p.F134fs*51; 11:64333756-64333756 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma |
c.419delT; p.I140fs*45; 11:64333739-64333739 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma |
c.?; p.Q166*; |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma |
c.620delG; p.G208fs*16; 11:64331973-64331973 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma |
c.673delG; p.G225fs*56; 11:64331710-64331710 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma |
c.1623_1652del30; p.A542_L551del; 11:64328563-64328592 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma |
c.249_252delGTCT; p.I85fs*33; 11:64333906-64333909 |
pancreas | carcinoid-endocrine_tumour; vipoma |
c.1405G>T; p.E469*; 11:64328810-64328810 |
parathyroid | hyperplasia |
c.?; p.V121D; |
parathyroid | adenoma |
c.39delG; p.R14fs*105; 11:64334119-64334119 |
parathyroid | adenoma |
c.?; p.W183G; |
pancreas | carcinoid-endocrine_tumour; insulinoma |
c.51delC; p.D17fs*102; 11:64334107-64334107 |
soft_tissue; fat | lipoma |
c.800_822del23; p.L267fs*42; 11:64331229-64331251 |
pancreas | carcinoid-endocrine_tumour |
c.631G>T; p.V211F; 11:64331962-64331962 |
parathyroid | carcinoma |
c.1256delG; p.G419fs*26; 11:64329176-64329176 |
parathyroid | carcinoma |
c.168_171delCAAC; p.N57fs*61; 11:64333987-64333990 |
parathyroid | carcinoma |
c.65T>G; p.L22R; 11:64334093-64334093 |
pancreas | carcinoid-endocrine_tumour |
c.559_568del10; p.P188fs*33; |
parathyroid | adenoma |
c.349C>G; p.L117V; |
small_intestine | carcinoid-endocrine_tumour |
c.806_824del19; p.?; 11:64331224-64331245 |
pituitary | adenoma; GH-PRL |
c.734delC; p.P245fs*36; 11:64331649-64331649 |
pancreas | carcinoid-endocrine_tumour; glucagonoma |
c.1217delA; p.D406fs*39; 11:64329215-64329215 |
retroperitoneum | carcinoid-endocrine_tumour |
c.95C>G; p.P32R; 11:64334063-64334063 |
pancreas | carcinoid-endocrine_tumour |
c.237_237delC; p.V80fs*39; 11:64333921-64333921 |
pituitary | adenoma; GH-PRL |
c.207_207delC; p.D70fs*49; 11:64333951-64333951 |
parathyroid | adenoma |
c.1716_1721delGAGCGC; p.S573_A574del; 11:64328494-64328499 |
parathyroid | adenoma |
c.362T>A; p.V121D; 11:64333796-64333796 |
parathyroid | carcinoma |
c.37_97del61; p.L13fs*86; 11:64334061-64334121 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.784-1G>C; p.?; |
parathyroid | adenoma |
c.989G>C; p.R330P; 11:64330340-64330340 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.1125_1128delGCTG; p.L376fs*68; 11:64329740-64329743 |
parathyroid | adenoma |
c.113_123del11; p.S38fs*75; 11:64334035-64334045 |
parathyroid | adenoma |
c.397_398insT; p.Y133fs*47; 11:64333760-64333761 |
parathyroid | adenoma |
c.207_220del14; p.D70fs*42; 11:64333938-64333951 |
parathyroid | adenoma |
c.884G>T; p.R295L; 11:64331087-64331087 |
lung | carcinoma; adenocarcinoma |
c.625C>T; p.Q209*; 11:64331968-64331968 |
parathyroid | adenoma |
c.152_153delAC; p.N51fs*65; 11:64334005-64334006 |
parathyroid | adenoma |
c.446_446delG; p.G149fs*36; 11:64332147-64332147 |
parathyroid | adenoma |
c.272_275delCCCG; p.R92fs*26; 11:64333883-64333886 |
parathyroid | adenoma |
c.1-20_51del71; p.?; 11:64334107-64334177 |
parathyroid | adenoma |
c.63_176del114; p.L22_P59del; 11:64333982-64334095 |
parathyroid | adenoma |
c.89_91delAGG; p.E31del; 11:64334067-64334069 |
parathyroid | adenoma |
c.90_140del51; p.E30_F47>D; 11:64334018-64334068 |
parathyroid | adenoma |
c.?; p.E30*; |
parathyroid | adenoma |
c.?; p.G42V; |
parathyroid | adenoma |
c.?; p.S512*; |
parathyroid | adenoma |
c.?; p.E45K; |
parathyroid | adenoma |
c.?; p.E45V; |
parathyroid | adenoma |
c.182_183insG; p.T62fs*55; 11:64333975-64333976 |
parathyroid | adenoma |
c.185_186insT; p.F63fs*54; 11:64333972-64333973 |
parathyroid | adenoma |
c.?; p.Q64*; |
parathyroid | adenoma |
c.201_202insG; p.A68fs*49; 11:64333956-64333957 |
parathyroid | adenoma |
c.205_206insC; p.D70fs*47; 11:64333952-64333953 |
parathyroid | adenoma |
c.230_230delA; p.Y77fs*42; 11:64333928-64333928 |
parathyroid | adenoma |
c.230_230delA; p.Y77fs*42; 11:64333928-64333928 |
parathyroid | adenoma |
c.230_230delA; p.Y77fs*42; 11:64333928-64333928 |
parathyroid | adenoma |
c.241_242insG; p.A81fs*36; 11:64333916-64333917 |
parathyroid | adenoma |
c.?; p.L89R; |
parathyroid | adenoma |
c.272_275delCCCG; p.R92fs*26; 11:64333883-64333886 |
parathyroid | adenoma |
c.272_275delCCCG; p.R92fs*26; 11:64333883-64333886 |
parathyroid | adenoma |
c.272_275delCCCG; p.R92fs*26; 11:64333883-64333886 |
parathyroid | adenoma |
c.288_308del21; p.I97_L103del; 11:64333850-64333870 |
parathyroid | adenoma |
c.?; p.Q96*; |
parathyroid | adenoma |
c.291_292delCC; p.I97fs*19; 11:64333866-64333867 |
parathyroid | adenoma |
c.?; p.R98*; |
parathyroid | adenoma |
c.?; p.R98*; |
parathyroid | adenoma |
c.303_316del14; p.D102fs*10; 11:64333842-64333855 |
parathyroid | adenoma |
c.1091_1099del9; p.F364_V367>L; 11:64329769-64329777 |
parathyroid | adenoma |
c.343_356del14; p.R115fs*60; 11:64333802-64333815 |
parathyroid | adenoma |
c.361_362insGGAG; p.V121fs*60; 11:64333796-64333797 |
parathyroid | adenoma |
c.628_631delACAG; p.T210fs*13; 11:64331962-64331965 |
parathyroid | adenoma |
c.363_367delCTCCG; p.S122fs*56; 11:64333791-64333795 |
parathyroid | adenoma |
c.?; p.W126*; |
parathyroid | adenoma |
c.721_724delTGTG; p.C241fs*39; 11:64331659-64331662 |
parathyroid | adenoma |
c.401_401delT; p.F134fs*51; 11:64333757-64333757 |
parathyroid | adenoma |
c.?; p.L152F; |
parathyroid | adenoma |
c.?; p.G156V; |
parathyroid | adenoma |
c.?; p.V161F; |
parathyroid | adenoma |
c.?; p.V161F; |
parathyroid | adenoma |
c.491_493delCCT; p.A164_C165>G; 11:64332100-64332102 |
parathyroid | adenoma |
c.495_495delC; p.Q166fs*19; 11:64332098-64332098 |
parathyroid | adenoma |
c.?; p.Q166*; |
parathyroid | adenoma |
c.?; p.Q166*; |
parathyroid | adenoma |
c.?; p.Q166*; |
parathyroid | adenoma |
c.499_523del25; p.A167fs*10; 11:64332070-64332094 |
parathyroid | adenoma |
c.?; p.S178P; |
parathyroid | adenoma |
c.550_550delG; p.V184fs*1; 11:64332043-64332043 |
parathyroid | adenoma |
c.751_751delA; p.T251fs*30; 11:64331632-64331632 |
parathyroid | adenoma |
c.?; p.Q260*; |
parathyroid | adenoma |
c.784_804del21; p.K262_Y268del; 11:64331247-64331267 |
parathyroid | adenoma |
c.?; p.L264P; |
parathyroid | adenoma |
c.804_824del21; p.Y268_R275>*; 11:64331227-64331247 |
parathyroid | adenoma |
c.?; p.Y276*; |
parathyroid | adenoma |
c.?; p.P277R; |
parathyroid | adenoma |
c.901_901delC; p.L301fs*67; 11:64331070-64331070 |
parathyroid | adenoma |
c.1084_1091delAAGGAGTT; p.K362fs*2; 11:64329777-64329784 |
parathyroid | adenoma |
c.1231_1231delG; p.A411fs*34; 11:64329201-64329201 |
parathyroid | adenoma |
c.1245_1245delA; p.F416fs*29; 11:64329187-64329187 |
parathyroid | adenoma |
c.1341_1341delT; p.F447fs*11; 11:64329091-64329091 |
parathyroid | adenoma |
c.1431_1440del10; p.E477fs*79; 11:64328775-64328784 |
parathyroid | adenoma |
c.?; p.S512*; |
parathyroid | adenoma |
c.1546_1547insC; p.R516fs*15; 11:64328668-64328669 |
parathyroid | adenoma |
c.1635_1635delG; p.P546fs*13; 11:64328580-64328580 |
parathyroid | adenoma |
c.1636_1637insCCACCGCC; p.E547fs*15; 11:64328578-64328579 |
parathyroid | adenoma |
c.?; p.Y227*; |
parathyroid | adenoma |
c.1621A>G; p.T541A; 11:64328594-64328594 |
lung | carcinoid-endocrine_tumour; typical |
c.427_427delC; p.L143fs*42; 11:64333731-64333731 |
lung | carcinoid-endocrine_tumour; typical |
c.?; p.G99S; |
lung | carcinoid-endocrine_tumour; typical |
c.646G>A; p.A216T; 11:64331947-64331947 |
lung | carcinoid-endocrine_tumour; atypical |
c.266T>G; p.L89R; 11:64333892-64333892 |
lung | carcinoid-endocrine_tumour; atypical |
c.249_252delGTCT; p.I85fs*33; 11:64333906-64333909 |
parathyroid | adenoma |
c.115_163del49; p.V40fs*63; 11:64333995-64334043 |
parathyroid | adenoma |
c.150_151insC; p.N51fs*66; 11:64334007-64334008 |
parathyroid | adenoma |
c.152_152delA; p.N51fs*68; 11:64334006-64334006 |
parathyroid | adenoma |
c.207_207delC; p.D70fs*49; 11:64333951-64333951 |
parathyroid | adenoma |
c.292C>T; p.R98*; 11:64333866-64333866 |
parathyroid | adenoma |
c.415C>T; p.H139Y; 11:64333743-64333743 |
parathyroid | adenoma |
c.479C>A; p.A160D; |
parathyroid | adenoma |
c.527_539del13; p.A176fs*5; 11:64332054-64332066 |
parathyroid | adenoma |
c.539A>T; p.D180V; 11:64332054-64332054 |
parathyroid | adenoma |
c.593G>A; p.W198*; 11:64332000-64332000 |
parathyroid | adenoma |
c.617_624delGCAGGGGC; p.R206fs*9; 11:64331969-64331976 |
parathyroid | adenoma |
c.446-?_783+?del; p.?; |
parathyroid | adenoma |
c.759_771del13; p.L254fs*23; 11:64331612-64331624 |
parathyroid | adenoma |
c.783+1G>T; p.?; 11:64331226-64331226 |
parathyroid | adenoma |
c.824+2T>G; p.?; 11:64331225-64331225 |
parathyroid | adenoma |
c.833_858del26; p.M278fs*30; 11:64331113-64331138 |
parathyroid | adenoma |
c.936C>G; p.Y312*; 11:64330393-64330393 |
parathyroid | adenoma |
c.1248_1267del20; p.F416fs*26; 11:64329165-64329184 |
parathyroid | adenoma |
c.1324C>T; p.Q442*; 11:64329108-64329108 |
parathyroid | adenoma |
c.1298_1311>GCA; p.H433fs*12; 11:64329121-64329134 |
parathyroid | adenoma |
c.1327T>C; p.S443P; 11:64329105-64329105 |
parathyroid | adenoma |
c.1357C>T; p.Q453*; 11:64328858-64328858 |
parathyroid | adenoma |
c.1546_1547insC; p.R516fs*15; 11:64328668-64328669 |
parathyroid | adenoma |
c.210_225del16; p.D70fs*44; 11:64333933-64333948 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.1351-1_1357delgGTGCGGC; p.?; |
parathyroid | adenoma |
c.496C>T; p.Q166*; |
breast | carcinoma; lobular_carcinoma |
c.758C>T; p.S253L; 11:64331625-64331625 |
prostate | carcinoma |
c.817_818delCT; p.L273fs*43; 11:64331233-64331234 |
pancreas | carcinoid-endocrine_tumour; islet_cell |
c.1159delG; p.E387fs*58; 11:64329709-64329709 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.88G>T; p.E30*; 11:64334070-64334070 |
pancreas | carcinoid-endocrine_tumour |
c.422A>G; p.Q141R; 11:64333736-64333736 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.674G>T; p.G225V; 11:64331709-64331709 |
pancreas | carcinoid-endocrine_tumour; islet_cell |
c.703G>A; p.E235K; |
parathyroid | adenoma |
c.1628C>A; p.S543*; 11:64328587-64328587 |
pancreas | carcinoid-endocrine_tumour; islet_cell |
c.159_165delCATCCCT; p.I54fs*63; 11:64333993-64333999 |
pancreas | carcinoid-endocrine_tumour |
c.491C>A; p.A164D; |
parathyroid | adenoma |
c.412delG; p.A138fs*47; 11:64333746-64333746 |
pancreas | carcinoid-endocrine_tumour; vipoma |
c.203_203delC; p.D70fs*49; 11:64333955-64333955 |
pancreas | carcinoid-endocrine_tumour |
c.959C>G; p.P320R; 11:64330370-64330370 |
pancreas | carcinoid-endocrine_tumour |
c.547T>C; p.W183R; 11:64332046-64332046 |
pancreas | carcinoid-endocrine_tumour |
c.1091_1095delTCTTT; p.F364fs*1; |
parathyroid | adenoma |
c.282_282delC; p.A95fs*24; 11:64333876-64333876 |
pancreas | carcinoid-endocrine_tumour |
c.156_156delC; p.V53fs*66; 11:64334002-64334002 |
pancreas | carcinoid-endocrine_tumour |
c.1198C>T; p.Q400*; 11:64329234-64329234 |
pancreas | carcinoid-endocrine_tumour |
c.330_346del17; p.G111fs*63; 11:64333812-64333828 |
pancreas | carcinoid-endocrine_tumour |
c.1_109del109; p.M1fs*82; 11:64334049-64334157 |
pancreas | carcinoid-endocrine_tumour |
c.377_377delG; p.W126fs*1; 11:64333781-64333781 |
pancreas | carcinoid-endocrine_tumour |
c.660_668del9; p.L221_L223del; 11:64331715-64331723 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.484_485GT>TG; p.V162C; 11:64332108-64332109 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.1038_1038delT; p.V347fs*21; 11:64330291-64330291 |
pancreas | carcinoid-endocrine_tumour |
c.79_95del17; p.L27fs*84; 11:64334063-64334079 |
pancreas | carcinoid-endocrine_tumour |
c.548G>A; p.W183*; 11:64332045-64332045 |
pancreas | carcinoid-endocrine_tumour |
c.960_960delC; p.Y321fs*47; 11:64330369-64330369 |
pancreas | carcinoid-endocrine_tumour |
c.435C>G; p.S145R; 11:64333723-64333723 |
pancreas | carcinoid-endocrine_tumour; non_functioning |
c.581_582insACAG; p.E195fs*2; 11:64332011-64332012 |
pancreas | carcinoid-endocrine_tumour |
c.253A>G; p.I85V; |
lung | carcinoma; adenocarcinoma |
c.440_442delTCA; p.I147del; 11:64333716-64333718 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.218_228>CCT; p.G73fs*41; 11:64333930-64333940 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.249_252delGTCT; p.I85fs*33; 11:64333906-64333909 |
pancreas | carcinoid-endocrine_tumour; islet_cell |
c.248_251delTGTC; p.I85fs*33; 11:64333907-64333910 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.249_252delGTCT; p.I85fs*33; 11:64333906-64333909 |
pancreas | carcinoid-endocrine_tumour |
c.989G>C; p.R330P; 11:64330340-64330340 |
pancreas | carcinoid-endocrine_tumour; gastrinoma |
c.561_561delG; p.N189fs*35; 11:64332032-64332032 |
pancreas | carcinoid-endocrine_tumour |
c.784-2A>G; p.?; 11:64331269-64331269 |
pancreas | carcinoid-endocrine_tumour |
c.654+1G>T; p.?; 11:64331938-64331938 |
pancreas | carcinoid-endocrine_tumour |
c.248delT; p.L83fs*36; |
pancreas | carcinoma |
c.1546delC; p.R516fs*43; |
liver | carcinoma |
c.1718_1723delGCGCCA; p.S573_A574delSA; |
liver | carcinoma |
c.909C>T; p.H303H; 11:64331062-64331062 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.758C>T; p.S253L; 11:64331625-64331625 |
prostate | carcinoma |
c.871C>T; p.P291S; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.753C>T; p.T251T; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.678A>G; p.S226S; |
liver | carcinoma |
c.655-1G>A; p.?; |
liver | carcinoma |
c.1508G>A; p.G503D; |
lung | carcinoma; adenocarcinoma |
c.654G>T; p.R218R; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell |
c.1813C>A; p.R605R; |
lung | carcinoma; adenocarcinoma |
c.650A>T; p.E217V; |
lung | carcinoma; adenocarcinoma |
c.1720G>T; p.A574S; |
lung | carcinoma; adenocarcinoma |
c.329G>C; p.G110A; |
lung | carcinoma; adenocarcinoma |
c.914G>A; p.G305D; |
lung | carcinoma; non_small_cell_carcinoma |
c.1779C>A; p.S593S; |
breast | carcinoma |
c.972G>A; p.L324L; |
liver | carcinoma |
c.1287G>A; p.T429T; |
lung | carcinoma; small_cell_carcinoma |
c.1073A>G; p.E358G; |
ovary | carcinoma; serous_carcinoma |
c.1310C>A; p.A437D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1222G>C; p.E408Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.323G>T; p.R108L; |
lung | carcinoma; squamous_cell_carcinoma |
c.553G>T; p.V185L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.479C>A; p.A160D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.811G>T; p.G271*; |
lung | carcinoma; adenocarcinoma |
c.824+2T>G; p.?; 11:64331057-64331057 |
breast | carcinoma |
c.1206C>T; p.S402S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.598G>A; p.G200S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.660G>A; p.W220*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1681A>G; p.M561V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.547T>C; p.W183R; 11:64332046-64332046 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1546delC; p.R516fs*43; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1654A>T; p.T552S; 11:64328561-64328561 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.532T>C; p.S178P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.512G>T; p.R171L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.960C>A; p.P320P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.125G>A; p.G42D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.884G>A; p.R295Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1739C>T; p.T580M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1546_1547insC; p.R516fs*15; 11:64328668-64328669 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.328G>T; p.G110W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.357G>A; p.K119K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.695G>A; p.R232H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1228T>C; p.F410L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1683G>A; p.M561I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.180G>C; p.E60D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.292C>T; p.R98*; 11:64333866-64333866 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1264A>G; p.K422E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.262G>A; p.A88T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.461G>A; p.S154N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.287A>C; p.Q96P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.387C>G; p.L129L; |
breast | carcinoma |
c.1163A>G; p.E388G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.989G>A; p.R330H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.673G>T; p.G225*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1740G>A; p.T580T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.134A>G; p.E45G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.534T>A; p.S178S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.610G>A; p.E204K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1820G>A; p.R607H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.547T>C; p.W183R; 11:64332046-64332046 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.435C>A; p.S145R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.852A>G; p.A284A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1546delC; p.R516fs*43; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.958C>T; p.P320S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1654A>G; p.T552A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1716G>A; p.S572S; |
urinary_tract; bladder | carcinoma |
c.387C>T; p.L129L; |
urinary_tract; bladder | carcinoma |
c.200C>A; p.P67H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.960C>A; p.P320P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1656T>C; p.T552T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.532T>C; p.S178P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.249_252delGTCT; p.I85fs*33; 11:64333906-64333909 |
breast | carcinoma |
c.225_229delCACCT; p.T76fs*39; |
breast | carcinoma |
c.1546_1547insC; p.R516fs*15; 11:64328668-64328669 |
breast | carcinoma |
c.1740G>A; p.T580T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1355G>A; p.R452Q; |
prostate | carcinoma; adenocarcinoma |
c.959C>A; p.P320H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1654A>G; p.T552A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1163A>G; p.E388G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.511C>T; p.R171W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.89A>G; p.E30G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1546delC; p.R516fs*43; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1740G>A; p.T580T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1249T>A; p.Y417N; |
prostate | carcinoma |
c.590_591CC>TT; p.T197I; |
skin | malignant_melanoma |
c.640G>A; p.G214S; |
skin | malignant_melanoma |