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Pediatric cancer database
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

pancreascarcinoid-endocrine_tumour; islet_cell

c.484G>T; p.V162F;

large_intestinecarcinoma; adenocarcinoma

c.652_653delCG; p.R218fs*13; 11:64331940-64331941

pancreascarcinoid-endocrine_tumour

c.491C>T; p.A164V; 11:64332102-64332102

pancreascarcinoid-endocrine_tumour

c.959C>T; p.P320L; 11:64330370-64330370

parathyroidadenoma

c.536A>T; p.E179V; 11:64332057-64332057

pancreascarcinoid-endocrine_tumour; glucagonoma

c.1045C>T; p.Q349*; 11:64330284-64330284

skinmalignant_melanoma

c.221delG; p.G74fs*45; 11:64333937-64333937

parathyroidhyperplasia

c.341_376>TC; p.S114fs*60; 11:64333782-64333817

parathyroidhyperplasia

c.1361_1362delAG; p.K454fs*76; 11:64328853-64328854

parathyroidhyperplasia

c.1413G>A; p.W471*; 11:64328802-64328802

central_nervous_system; fourth_ventricleglioma; ependymoma_Grade_III-IV

c.1413G>A; p.W471*; 11:64328802-64328802

central_nervous_system; fourth_ventricleglioma; ependymoma_Grade_III-IV

c.1413G>A; p.W471*; 11:64328802-64328802

central_nervous_system; spinal_cordglioma; ependymoma_Grade_III-IV

c.354_356delGAA; p.K119del; 11:64333802-64333804

parathyroidadenoma

c.754_761delGACTCGCT; p.D252fs*15; 11:64331622-64331629

parathyroidadenoma

c.1657delT; p.F553fs*6; 11:64328558-64328558

parathyroidadenoma-hyperplasia_NS

c.252_253insT; p.I85fs*32; 11:64333905-64333906

parathyroidadenoma-hyperplasia_NS

c.?; p.W341*;

parathyroidadenoma-hyperplasia_NS

c.398_430del33; p.Y133_L143del; 11:64333728-64333760

parathyroidadenoma-hyperplasia_NS

c.178G>T; p.E60*; 11:64333980-64333980

parathyroidadenoma

c.292C>T; p.R98*; 11:64333866-64333866

parathyroidadenoma

c.95C>G; p.P32R; 11:64334063-64334063

parathyroidadenoma

c.151delA; p.N51fs*68; 11:64334007-64334007

parathyroidadenoma

c.824+2T>G; p.?; 11:64331225-64331225

parathyroidadenoma

c.1324C>T; p.Q442*; 11:64329108-64329108

parathyroidadenoma

c.1327T>C; p.S443P; 11:64329105-64329105

parathyroidadenoma

c.1482_1483insC; p.K496fs*35; 11:64328732-64328733

parathyroidadenoma

c.1539_1540insC; p.R516fs*15; 11:64328675-64328676

parathyroidadenoma

c.325G>T; p.E109*; 11:64333833-64333833

adrenal_gland; adrenal_glandadrenal_cortical_adenoma

c.1351-4C>T; p.?; 11:64328868-64328868

adrenal_gland; adrenal_glandadrenal_cortical_hyperplasia

c.1654A>T; p.T552S; 11:64328561-64328561

adrenal_gland; adrenal_glandadrenal_cortical_adenoma

c.378G>A; p.W126*; 11:64333780-64333780

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma

c.512G>A; p.R171Q; 11:64332081-64332081

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma

c.?; p.E378V;

parathyroidadenoma

c.?; p.Q584*;

parathyroidadenoma

c.467_468insT; p.V157fs*23; 11:64332125-64332126

parathyroidadenoma

c.194_219del26; p.P65fs*43; 11:64333939-64333964

parathyroidadenoma

c.654+3A>G; p.?; 11:64331936-64331936

parathyroidadenoma

c.654+3A>G; p.?; 11:64331936-64331936

parathyroidadenoma

c.268delT; p.Y90fs*29; 11:64333890-64333890

pituitaryadenoma; PRL

c.437delT; p.F146fs*39; 11:64333721-64333721

parathyroidadenoma

c.?; p.A49D;

parathyroidadenoma

c.83_118del36; p.G28_L39del; 11:64334040-64334075

parathyroidadenoma

c.?; p.W126*;

parathyroidadenoma

c.292delC; p.R98fs*21; 11:64333866-64333866

parathyroidadenoma

c.794_802del9; p.W265_L267del; 11:64331249-64331257

parathyroidadenoma

c.372_393del22; p.I125fs*53; 11:64333765-64333786

parathyroidadenoma

c.?; p.R415*;

parathyroidadenoma

c.981C>G; p.Y327*; 11:64330348-64330348

parathyroidadenoma

c.1116delC; p.N374fs*3; 11:64329752-64329752

lungcarcinoma; small_cell_carcinoma

c.8_42>GGCCT; p.L3_R14>RP; 11:64334116-64334150

parathyroidhyperplasia

c.161_162insG; p.I54fs*63; 11:64333996-64333997

parathyroidadenoma

c.163_173del11; p.P55fs*58; 11:64333985-64333995

parathyroidadenoma

c.199_202delCCCG; p.A68fs*50; 11:64333956-64333959

parathyroidadenoma

c.1657delT; p.F553fs*6; 11:64328558-64328558

parathyroidhyperplasia

c.252_253insT; p.I85fs*32; 11:64333905-64333906

parathyroidhyperplasia

c.291_292delCC; p.I97fs*19; 11:64333866-64333867

parathyroidadenoma

c.?; p.R98*;

parathyroidadenoma

c.?; p.R108*;

parathyroidhyperplasia

c.?; p.W341*;

parathyroidadenoma

c.398_430del33; p.Y133_L143del; 11:64333728-64333760

parathyroidadenoma

c.445+2delTTGG; p.?; 11:64333708-64333711

parathyroidhyperplasia

c.?; p.G156D;

parathyroidadenoma

c.?; p.Q209*;

parathyroidadenoma

c.?; p.W183R;

parathyroidhyperplasia

c.?; p.A284P;

parathyroidadenoma

c.912+1delG; p.?; 11:64331058-64331058

parathyroidhyperplasia

c.?; p.K310*;

parathyroidadenoma

c.?; p.E358*;

parathyroidadenoma

c.1154_1155insG; p.E387fs*22; 11:64329713-64329714

parathyroidadenoma

c.1240_1275del36; p.L414_E425del; 11:64329157-64329192

parathyroidhyperplasia

c.1360delA; p.K454fs*4; 11:64328855-64328855

parathyroidadenoma

c.1546_1547insC; p.R516fs*15; 11:64328668-64328669

parathyroidadenoma

c.?; p.S543*;

parathyroidhyperplasia

c.981_982insAGC; p.Y327_H328insS; 11:64330347-64330348

parathyroidadenoma

c.124G>A; p.G42S; 11:64334034-64334034

parathyroidadenoma

c.1162G>T; p.E388*; 11:64329706-64329706

parathyroidadenoma

c.1378C>T; p.R460*; 11:64328837-64328837

parathyroidadenoma

c.212_218delCGCCTGG; p.P72fs*45; 11:64333940-64333946

pancreascarcinoid-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

parathyroidadenoma

c.322C>T; p.R108*; 11:64333836-64333836

parathyroidadenoma

c.824+1G>A; p.?; 11:64331226-64331226

parathyroidadenoma

c.1169_1170ins11; p.G391fs*58; 11:64329698-64329699

parathyroidadenoma

c.1252G>A; p.D418N; 11:64329180-64329180

parathyroidadenoma

c.1682T>C; p.M561T; 11:64328533-64328533

parathyroidadenoma

c.1702_1706delACCAA; p.T568fs*27; 11:64328509-64328513

parathyroidadenoma

c.445+?C>T; p.?;

pituitaryadenoma; PRL

c.403A>T; p.K135*; 11:64333755-64333755

soft_tissue; fibrous_tissue_and_uncertain_oangiofibroma

c.1074_1075GG>AA; p.E359K; 11:64329793-64329794

soft_tissue; fibrous_tissue_and_uncertain_oangiofibroma

c.?; p.L152W;

parathyroidhyperplasia

c.405delG; p.D136fs*49; 11:64333753-64333753

parathyroidadenoma

c.?; p.H139D;

parathyroidadenoma

c.1313_1331del19; p.T438fs*14; 11:64329101-64329119

parathyroidadenoma

c.258_261delCGCC; p.I86fs*32; 11:64333897-64333900

parathyroidadenoma

c.44_59del16; p.S15fs*99; 11:64334099-64334114

parathyroidadenoma

c.?; p.Q450*;

pancreascarcinoid-endocrine_tumour; vipoma

c.?; p.L37P;

pancreascarcinoid-endocrine_tumour; vipoma

c.515A>T; p.D172V; 11:64332078-64332078

lungcarcinoid-endocrine_tumour

c.?; p.Q209*;

small_intestine; duodenumcarcinoid-endocrine_tumour

c.?; p.V53I;

small_intestine; ileumcarcinoid-endocrine_tumour

c.1050-2A>G; p.?; 11:64329820-64329820

pituitaryadenoma; TSH

c.1539_1540insC; p.R516fs*15; 11:64328675-64328676

lungcarcinoid-endocrine_tumour; typical

c.654+3A>G; p.?; 11:64331936-64331936

lungcarcinoid-endocrine_tumour; typical

c.24_36del13; p.K8fs*107; 11:64334122-64334134

lungcarcinoid-endocrine_tumour; atypical

c.1351delG; p.V451fs*7; 11:64328864-64328864

lungcarcinoid-endocrine_tumour; atypical

c.135G>T; p.E45D; 11:64334023-64334023

parathyroidadenoma-hyperplasia_NS

c.588_589insA; p.T197fs*21; 11:64332004-64332005

parathyroidadenoma-hyperplasia_NS

c.?; p.K119del;

parathyroidadenoma-hyperplasia_NS

c.1034delC; p.T346fs*22; 11:64330295-64330295

parathyroidadenoma-hyperplasia_NS

c.?; p.L175R;

parathyroidadenoma-hyperplasia_NS

c.671_675delAAGGA; p.K224fs*6; 11:64331708-64331712

parathyroidadenoma-hyperplasia_NS

c.1248C>G; p.F416L;

thyroidcarcinoma; medullary_carcinoma

c.1505A>T; p.K502M; 11:64328710-64328710

pituitaryadenoma; non_functioning

c.1230C>A; p.F410L; 11:64329202-64329202

pituitaryadenoma; ACTH

c.242delC; p.D82fs*37; 11:64333916-64333916

parathyroidadenoma-hyperplasia_NS

c.342delC; p.R115fs*4; 11:64333816-64333816

parathyroidadenoma-hyperplasia_NS

c.597_597C>GG; p.H199fs*19; 11:64331996-64331996

parathyroidadenoma-hyperplasia_NS

c.483_484GG>TT; p.V162F; 11:64332109-64332110

parathyroidadenoma-hyperplasia_NS

c.758C>T; p.S253L; 11:64331625-64331625

parathyroidadenoma-hyperplasia_NS

c.850G>C; p.A284P; 11:64331121-64331121

parathyroidadenoma-hyperplasia_NS

c.912+2T>A; p.?; 11:64331057-64331057

parathyroidadenoma-hyperplasia_NS

c.1739C>G; p.T580R; 11:64328476-64328476

parathyroidadenoma-hyperplasia_NS

c.1704delC; p.K569fs*19; 11:64328511-64328511

parathyroidadenoma-hyperplasia_NS

c.111_112insT; p.S38fs*79; 11:64334046-64334047

parathyroidadenoma

c.725_742del18; p.A242_I247del; 11:64331641-64331658

parathyroidadenoma

c.802_803delTA; p.Y268fs*1; 11:64331248-64331249

parathyroidadenoma

c.871C>G; p.P291A; 11:64331100-64331100

parathyroidadenoma

c.1606C>T; p.Q536*; 11:64328609-64328609

parathyroidadenoma

c.266T>G; p.L89R; 11:64333892-64333892

parathyroidhyperplasia

c.1177C>T; p.Q393*; 11:64329691-64329691

thymuscarcinoid-endocrine_tumour

c.247_250delCTGT; p.I85fs*33; 11:64333908-64333911

stomachcarcinoid-endocrine_tumour

c.292C>T; p.R98*; 11:64333866-64333866

pancreascarcinoid-endocrine_tumour; non_functioning

c.533C>A; p.S178Y; 11:64332060-64332060

pancreascarcinoid-endocrine_tumour; non_functioning

c.620delG; p.G208fs*16; 11:64331973-64331973

small_intestine; duodenumcarcinoid-endocrine_tumour; gastrinoma

c.620delG; p.G208fs*16; 11:64331973-64331973

small_intestine; duodenumcarcinoid-endocrine_tumour; gastrinoma

c.620delG; p.G208fs*16; 11:64331973-64331973

small_intestine; duodenumcarcinoid-endocrine_tumour; gastrinoma

c.1102_1108delGCCAATG; p.A368fs*7; 11:64329760-64329766

small_intestine; duodenumcarcinoid-endocrine_tumour; gastrinoma

c.1102_1108delGCCAATG; p.A368fs*7; 11:64329760-64329766

small_intestine; duodenumcarcinoid-endocrine_tumour; gastrinoma

c.373_374delAT; p.I125fs*54; 11:64333784-64333785

NScarcinoid-endocrine_tumour; gastrinoma

c.373_374delAT; p.I125fs*54; 11:64333784-64333785

NScarcinoid-endocrine_tumour; gastrinoma

c.1318_1319delCT; p.L440fs*8; 11:64329113-64329114

thymuscarcinoid-endocrine_tumour; ACTH

c.247_250delCTGT; p.I85fs*33; 11:64333908-64333911

small_intestine; duodenumcarcinoid-endocrine_tumour; gastrinoma

c.248_272del25; p.L83fs*28; 11:64333886-64333910

NScarcinoid-endocrine_tumour; gastrinoma

c.256A>T; p.I86F; 11:64333902-64333902

small_intestine; duodenumcarcinoid-endocrine_tumour; gastrinoma

c.373_374delAT; p.I125fs*54; 11:64333784-64333785

pancreascarcinoid-endocrine_tumour; gastrinoma

c.376T>G; p.W126G; 11:64333782-64333782

pancreascarcinoid-endocrine_tumour; gastrinoma

c.434_435insT; p.F146fs*34; 11:64333723-64333724

pancreascarcinoid-endocrine_tumour; insulinoma

c.476T>G; p.F159C; 11:64332117-64332117

NScarcinoid-endocrine_tumour; gastrinoma

c.764_765insA; p.L256fs*14; 11:64331618-64331619

NScarcinoid-endocrine_tumour; gastrinoma

c.1102_1108delGCCAATG; p.A368fs*7; 11:64329760-64329766

NScarcinoid-endocrine_tumour; gastrinoma

c.1604C>T; p.A535V; 11:64328611-64328611

pancreascarcinoid-endocrine_tumour; insulinoma

c.1628C>T; p.S543L; 11:64328587-64328587

NScarcinoid-endocrine_tumour; gastrinoma

c.?; p.E392*;

pancreascarcinoid-endocrine_tumour; glucagonoma

c.266T>G; p.L89R; 11:64333892-64333892

pancreascarcinoid-endocrine_tumour; glucagonoma

c.?; p.R415*;

pancreascarcinoid-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

pancreascarcinoid-endocrine_tumour; gastrinoma

c.654+2T>A; p.?; 11:64331937-64331937

pancreascarcinoid-endocrine_tumour; gastrinoma

c.?; p.H433P;

small_intestine; duodenumcarcinoid-endocrine_tumour; gastrinoma

c.1033delG; p.A345fs*23; 11:64330296-64330296

small_intestine; duodenumcarcinoid-endocrine_tumour; gastrinoma

c.?; p.H433P;

small_intestine; duodenumcarcinoid-endocrine_tumour; gastrinoma

c.?; p.E473*;

gastrointestinal_tract_(site_indeterminate); lymph_nodecarcinoid-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

pancreascarcinoid-endocrine_tumour; vipoma

c.1405G>T; p.E469*; 11:64328810-64328810

parathyroidhyperplasia

c.?; p.V121D;

parathyroidadenoma

c.39delG; p.R14fs*105; 11:64334119-64334119

parathyroidadenoma

c.?; p.W183G;

pancreascarcinoid-endocrine_tumour; insulinoma

c.51delC; p.D17fs*102; 11:64334107-64334107

soft_tissue; fatlipoma

c.800_822del23; p.L267fs*42; 11:64331229-64331251

pancreascarcinoid-endocrine_tumour

c.631G>T; p.V211F; 11:64331962-64331962

parathyroidcarcinoma

c.1256delG; p.G419fs*26; 11:64329176-64329176

parathyroidcarcinoma

c.168_171delCAAC; p.N57fs*61; 11:64333987-64333990

parathyroidcarcinoma

c.65T>G; p.L22R; 11:64334093-64334093

pancreascarcinoid-endocrine_tumour

c.559_568del10; p.P188fs*33;

parathyroidadenoma

c.349C>G; p.L117V;

small_intestinecarcinoid-endocrine_tumour

c.806_824del19; p.?; 11:64331224-64331245

pituitaryadenoma; GH-PRL

c.734delC; p.P245fs*36; 11:64331649-64331649

pancreascarcinoid-endocrine_tumour; glucagonoma

c.1217delA; p.D406fs*39; 11:64329215-64329215

retroperitoneumcarcinoid-endocrine_tumour

c.95C>G; p.P32R; 11:64334063-64334063

pancreascarcinoid-endocrine_tumour

c.237_237delC; p.V80fs*39; 11:64333921-64333921

pituitaryadenoma; GH-PRL

c.207_207delC; p.D70fs*49; 11:64333951-64333951

parathyroidadenoma

c.1716_1721delGAGCGC; p.S573_A574del; 11:64328494-64328499

parathyroidadenoma

c.362T>A; p.V121D; 11:64333796-64333796

parathyroidcarcinoma

c.37_97del61; p.L13fs*86; 11:64334061-64334121

pancreascarcinoid-endocrine_tumour; gastrinoma

c.784-1G>C; p.?;

parathyroidadenoma

c.989G>C; p.R330P; 11:64330340-64330340

pancreascarcinoid-endocrine_tumour; gastrinoma

c.1125_1128delGCTG; p.L376fs*68; 11:64329740-64329743

parathyroidadenoma

c.113_123del11; p.S38fs*75; 11:64334035-64334045

parathyroidadenoma

c.397_398insT; p.Y133fs*47; 11:64333760-64333761

parathyroidadenoma

c.207_220del14; p.D70fs*42; 11:64333938-64333951

parathyroidadenoma

c.884G>T; p.R295L; 11:64331087-64331087

lungcarcinoma; adenocarcinoma

c.625C>T; p.Q209*; 11:64331968-64331968

parathyroidadenoma

c.152_153delAC; p.N51fs*65; 11:64334005-64334006

parathyroidadenoma

c.446_446delG; p.G149fs*36; 11:64332147-64332147

parathyroidadenoma

c.272_275delCCCG; p.R92fs*26; 11:64333883-64333886

parathyroidadenoma

c.1-20_51del71; p.?; 11:64334107-64334177

parathyroidadenoma

c.63_176del114; p.L22_P59del; 11:64333982-64334095

parathyroidadenoma

c.89_91delAGG; p.E31del; 11:64334067-64334069

parathyroidadenoma

c.90_140del51; p.E30_F47>D; 11:64334018-64334068

parathyroidadenoma

c.?; p.E30*;

parathyroidadenoma

c.?; p.G42V;

parathyroidadenoma

c.?; p.S512*;

parathyroidadenoma

c.?; p.E45K;

parathyroidadenoma

c.?; p.E45V;

parathyroidadenoma

c.182_183insG; p.T62fs*55; 11:64333975-64333976

parathyroidadenoma

c.185_186insT; p.F63fs*54; 11:64333972-64333973

parathyroidadenoma

c.?; p.Q64*;

parathyroidadenoma

c.201_202insG; p.A68fs*49; 11:64333956-64333957

parathyroidadenoma

c.205_206insC; p.D70fs*47; 11:64333952-64333953

parathyroidadenoma

c.230_230delA; p.Y77fs*42; 11:64333928-64333928

parathyroidadenoma

c.230_230delA; p.Y77fs*42; 11:64333928-64333928

parathyroidadenoma

c.230_230delA; p.Y77fs*42; 11:64333928-64333928

parathyroidadenoma

c.241_242insG; p.A81fs*36; 11:64333916-64333917

parathyroidadenoma

c.?; p.L89R;

parathyroidadenoma

c.272_275delCCCG; p.R92fs*26; 11:64333883-64333886

parathyroidadenoma

c.272_275delCCCG; p.R92fs*26; 11:64333883-64333886

parathyroidadenoma

c.272_275delCCCG; p.R92fs*26; 11:64333883-64333886

parathyroidadenoma

c.288_308del21; p.I97_L103del; 11:64333850-64333870

parathyroidadenoma

c.?; p.Q96*;

parathyroidadenoma

c.291_292delCC; p.I97fs*19; 11:64333866-64333867

parathyroidadenoma

c.?; p.R98*;

parathyroidadenoma

c.?; p.R98*;

parathyroidadenoma

c.303_316del14; p.D102fs*10; 11:64333842-64333855

parathyroidadenoma

c.1091_1099del9; p.F364_V367>L; 11:64329769-64329777

parathyroidadenoma

c.343_356del14; p.R115fs*60; 11:64333802-64333815

parathyroidadenoma

c.361_362insGGAG; p.V121fs*60; 11:64333796-64333797

parathyroidadenoma

c.628_631delACAG; p.T210fs*13; 11:64331962-64331965

parathyroidadenoma

c.363_367delCTCCG; p.S122fs*56; 11:64333791-64333795

parathyroidadenoma

c.?; p.W126*;

parathyroidadenoma

c.721_724delTGTG; p.C241fs*39; 11:64331659-64331662

parathyroidadenoma

c.401_401delT; p.F134fs*51; 11:64333757-64333757

parathyroidadenoma

c.?; p.L152F;

parathyroidadenoma

c.?; p.G156V;

parathyroidadenoma

c.?; p.V161F;

parathyroidadenoma

c.?; p.V161F;

parathyroidadenoma

c.491_493delCCT; p.A164_C165>G; 11:64332100-64332102

parathyroidadenoma

c.495_495delC; p.Q166fs*19; 11:64332098-64332098

parathyroidadenoma

c.?; p.Q166*;

parathyroidadenoma

c.?; p.Q166*;

parathyroidadenoma

c.?; p.Q166*;

parathyroidadenoma

c.499_523del25; p.A167fs*10; 11:64332070-64332094

parathyroidadenoma

c.?; p.S178P;

parathyroidadenoma

c.550_550delG; p.V184fs*1; 11:64332043-64332043

parathyroidadenoma

c.751_751delA; p.T251fs*30; 11:64331632-64331632

parathyroidadenoma

c.?; p.Q260*;

parathyroidadenoma

c.784_804del21; p.K262_Y268del; 11:64331247-64331267

parathyroidadenoma

c.?; p.L264P;

parathyroidadenoma

c.804_824del21; p.Y268_R275>*; 11:64331227-64331247

parathyroidadenoma

c.?; p.Y276*;

parathyroidadenoma

c.?; p.P277R;

parathyroidadenoma

c.901_901delC; p.L301fs*67; 11:64331070-64331070

parathyroidadenoma

c.1084_1091delAAGGAGTT; p.K362fs*2; 11:64329777-64329784

parathyroidadenoma

c.1231_1231delG; p.A411fs*34; 11:64329201-64329201

parathyroidadenoma

c.1245_1245delA; p.F416fs*29; 11:64329187-64329187

parathyroidadenoma

c.1341_1341delT; p.F447fs*11; 11:64329091-64329091

parathyroidadenoma

c.1431_1440del10; p.E477fs*79; 11:64328775-64328784

parathyroidadenoma

c.?; p.S512*;

parathyroidadenoma

c.1546_1547insC; p.R516fs*15; 11:64328668-64328669

parathyroidadenoma

c.1635_1635delG; p.P546fs*13; 11:64328580-64328580

parathyroidadenoma

c.1636_1637insCCACCGCC; p.E547fs*15; 11:64328578-64328579

parathyroidadenoma

c.?; p.Y227*;

parathyroidadenoma

c.1621A>G; p.T541A; 11:64328594-64328594

lungcarcinoid-endocrine_tumour; typical

c.427_427delC; p.L143fs*42; 11:64333731-64333731

lungcarcinoid-endocrine_tumour; typical

c.?; p.G99S;

lungcarcinoid-endocrine_tumour; typical

c.646G>A; p.A216T; 11:64331947-64331947

lungcarcinoid-endocrine_tumour; atypical

c.266T>G; p.L89R; 11:64333892-64333892

lungcarcinoid-endocrine_tumour; atypical

c.249_252delGTCT; p.I85fs*33; 11:64333906-64333909

parathyroidadenoma

c.115_163del49; p.V40fs*63; 11:64333995-64334043

parathyroidadenoma

c.150_151insC; p.N51fs*66; 11:64334007-64334008

parathyroidadenoma

c.152_152delA; p.N51fs*68; 11:64334006-64334006

parathyroidadenoma

c.207_207delC; p.D70fs*49; 11:64333951-64333951

parathyroidadenoma

c.292C>T; p.R98*; 11:64333866-64333866

parathyroidadenoma

c.415C>T; p.H139Y; 11:64333743-64333743

parathyroidadenoma

c.479C>A; p.A160D;

parathyroidadenoma

c.527_539del13; p.A176fs*5; 11:64332054-64332066

parathyroidadenoma

c.539A>T; p.D180V; 11:64332054-64332054

parathyroidadenoma

c.593G>A; p.W198*; 11:64332000-64332000

parathyroidadenoma

c.617_624delGCAGGGGC; p.R206fs*9; 11:64331969-64331976

parathyroidadenoma

c.446-?_783+?del; p.?;

parathyroidadenoma

c.759_771del13; p.L254fs*23; 11:64331612-64331624

parathyroidadenoma

c.783+1G>T; p.?; 11:64331226-64331226

parathyroidadenoma

c.824+2T>G; p.?; 11:64331225-64331225

parathyroidadenoma

c.833_858del26; p.M278fs*30; 11:64331113-64331138

parathyroidadenoma

c.936C>G; p.Y312*; 11:64330393-64330393

parathyroidadenoma

c.1248_1267del20; p.F416fs*26; 11:64329165-64329184

parathyroidadenoma

c.1324C>T; p.Q442*; 11:64329108-64329108

parathyroidadenoma

c.1298_1311>GCA; p.H433fs*12; 11:64329121-64329134

parathyroidadenoma

c.1327T>C; p.S443P; 11:64329105-64329105

parathyroidadenoma

c.1357C>T; p.Q453*; 11:64328858-64328858

parathyroidadenoma

c.1546_1547insC; p.R516fs*15; 11:64328668-64328669

parathyroidadenoma

c.210_225del16; p.D70fs*44; 11:64333933-64333948

pancreascarcinoid-endocrine_tumour; gastrinoma

c.1351-1_1357delgGTGCGGC; p.?;

parathyroidadenoma

c.496C>T; p.Q166*;

breastcarcinoma; lobular_carcinoma

c.758C>T; p.S253L; 11:64331625-64331625

prostatecarcinoma

c.817_818delCT; p.L273fs*43; 11:64331233-64331234

pancreascarcinoid-endocrine_tumour; islet_cell

c.1159delG; p.E387fs*58; 11:64329709-64329709

pancreascarcinoid-endocrine_tumour; gastrinoma

c.88G>T; p.E30*; 11:64334070-64334070

pancreascarcinoid-endocrine_tumour

c.422A>G; p.Q141R; 11:64333736-64333736

pancreascarcinoid-endocrine_tumour; gastrinoma

c.674G>T; p.G225V; 11:64331709-64331709

pancreascarcinoid-endocrine_tumour; islet_cell

c.703G>A; p.E235K;

parathyroidadenoma

c.1628C>A; p.S543*; 11:64328587-64328587

pancreascarcinoid-endocrine_tumour; islet_cell

c.159_165delCATCCCT; p.I54fs*63; 11:64333993-64333999

pancreascarcinoid-endocrine_tumour

c.491C>A; p.A164D;

parathyroidadenoma

c.412delG; p.A138fs*47; 11:64333746-64333746

pancreascarcinoid-endocrine_tumour; vipoma

c.203_203delC; p.D70fs*49; 11:64333955-64333955

pancreascarcinoid-endocrine_tumour

c.959C>G; p.P320R; 11:64330370-64330370

pancreascarcinoid-endocrine_tumour

c.547T>C; p.W183R; 11:64332046-64332046

pancreascarcinoid-endocrine_tumour

c.1091_1095delTCTTT; p.F364fs*1;

parathyroidadenoma

c.282_282delC; p.A95fs*24; 11:64333876-64333876

pancreascarcinoid-endocrine_tumour

c.156_156delC; p.V53fs*66; 11:64334002-64334002

pancreascarcinoid-endocrine_tumour

c.1198C>T; p.Q400*; 11:64329234-64329234

pancreascarcinoid-endocrine_tumour

c.330_346del17; p.G111fs*63; 11:64333812-64333828

pancreascarcinoid-endocrine_tumour

c.1_109del109; p.M1fs*82; 11:64334049-64334157

pancreascarcinoid-endocrine_tumour

c.377_377delG; p.W126fs*1; 11:64333781-64333781

pancreascarcinoid-endocrine_tumour

c.660_668del9; p.L221_L223del; 11:64331715-64331723

pancreascarcinoid-endocrine_tumour; gastrinoma

c.484_485GT>TG; p.V162C; 11:64332108-64332109

pancreascarcinoid-endocrine_tumour; gastrinoma

c.1038_1038delT; p.V347fs*21; 11:64330291-64330291

pancreascarcinoid-endocrine_tumour

c.79_95del17; p.L27fs*84; 11:64334063-64334079

pancreascarcinoid-endocrine_tumour

c.548G>A; p.W183*; 11:64332045-64332045

pancreascarcinoid-endocrine_tumour

c.960_960delC; p.Y321fs*47; 11:64330369-64330369

pancreascarcinoid-endocrine_tumour

c.435C>G; p.S145R; 11:64333723-64333723

pancreascarcinoid-endocrine_tumour; non_functioning

c.581_582insACAG; p.E195fs*2; 11:64332011-64332012

pancreascarcinoid-endocrine_tumour

c.253A>G; p.I85V;

lungcarcinoma; adenocarcinoma

c.440_442delTCA; p.I147del; 11:64333716-64333718

pancreascarcinoid-endocrine_tumour; gastrinoma

c.218_228>CCT; p.G73fs*41; 11:64333930-64333940

pancreascarcinoid-endocrine_tumour; gastrinoma

c.249_252delGTCT; p.I85fs*33; 11:64333906-64333909

pancreascarcinoid-endocrine_tumour; islet_cell

c.248_251delTGTC; p.I85fs*33; 11:64333907-64333910

pancreascarcinoid-endocrine_tumour; gastrinoma

c.249_252delGTCT; p.I85fs*33; 11:64333906-64333909

pancreascarcinoid-endocrine_tumour

c.989G>C; p.R330P; 11:64330340-64330340

pancreascarcinoid-endocrine_tumour; gastrinoma

c.561_561delG; p.N189fs*35; 11:64332032-64332032

pancreascarcinoid-endocrine_tumour

c.784-2A>G; p.?; 11:64331269-64331269

pancreascarcinoid-endocrine_tumour

c.654+1G>T; p.?; 11:64331938-64331938

pancreascarcinoid-endocrine_tumour

c.248delT; p.L83fs*36;

pancreascarcinoma

c.1546delC; p.R516fs*43;

livercarcinoma

c.1718_1723delGCGCCA; p.S573_A574delSA;

livercarcinoma

c.909C>T; p.H303H; 11:64331062-64331062

central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.758C>T; p.S253L; 11:64331625-64331625

prostatecarcinoma

c.871C>T; p.P291S;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.753C>T; p.T251T;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.678A>G; p.S226S;

livercarcinoma

c.655-1G>A; p.?;

livercarcinoma

c.1508G>A; p.G503D;

lungcarcinoma; adenocarcinoma

c.654G>T; p.R218R;

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; large_cell

c.1813C>A; p.R605R;

lungcarcinoma; adenocarcinoma

c.650A>T; p.E217V;

lungcarcinoma; adenocarcinoma

c.1720G>T; p.A574S;

lungcarcinoma; adenocarcinoma

c.329G>C; p.G110A;

lungcarcinoma; adenocarcinoma

c.914G>A; p.G305D;

lungcarcinoma; non_small_cell_carcinoma

c.1779C>A; p.S593S;

breastcarcinoma

c.972G>A; p.L324L;

livercarcinoma

c.1287G>A; p.T429T;

lungcarcinoma; small_cell_carcinoma

c.1073A>G; p.E358G;

ovarycarcinoma; serous_carcinoma

c.1310C>A; p.A437D;

lungcarcinoma; squamous_cell_carcinoma

c.1222G>C; p.E408Q;

lungcarcinoma; squamous_cell_carcinoma

c.323G>T; p.R108L;

lungcarcinoma; squamous_cell_carcinoma

c.553G>T; p.V185L;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.479C>A; p.A160D;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.811G>T; p.G271*;

lungcarcinoma; adenocarcinoma

c.824+2T>G; p.?; 11:64331057-64331057

breastcarcinoma

c.1206C>T; p.S402S;

endometriumcarcinoma; endometrioid_carcinoma

c.598G>A; p.G200S;

endometriumcarcinoma; endometrioid_carcinoma

c.660G>A; p.W220*;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1681A>G; p.M561V;

large_intestine; coloncarcinoma; adenocarcinoma

c.547T>C; p.W183R; 11:64332046-64332046

large_intestine; coloncarcinoma; adenocarcinoma

c.1546delC; p.R516fs*43;

large_intestine; coloncarcinoma; adenocarcinoma

c.1654A>T; p.T552S; 11:64328561-64328561

large_intestine; coloncarcinoma; adenocarcinoma

c.532T>C; p.S178P;

large_intestine; coloncarcinoma; adenocarcinoma

c.512G>T; p.R171L;

large_intestine; coloncarcinoma; adenocarcinoma

c.960C>A; p.P320P;

large_intestine; coloncarcinoma; adenocarcinoma

c.125G>A; p.G42D;

large_intestine; rectumcarcinoma; adenocarcinoma

c.884G>A; p.R295Q;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1739C>T; p.T580M;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1546_1547insC; p.R516fs*15; 11:64328668-64328669

large_intestine; rectumcarcinoma; adenocarcinoma

c.328G>T; p.G110W;

endometriumcarcinoma; endometrioid_carcinoma

c.357G>A; p.K119K;

endometriumcarcinoma; endometrioid_carcinoma

c.695G>A; p.R232H;

endometriumcarcinoma; endometrioid_carcinoma

c.1228T>C; p.F410L;

large_intestine; coloncarcinoma; adenocarcinoma

c.1683G>A; p.M561I;

large_intestine; caecumcarcinoma; adenocarcinoma

c.180G>C; p.E60D;

large_intestine; coloncarcinoma; adenocarcinoma

c.292C>T; p.R98*; 11:64333866-64333866

large_intestine; coloncarcinoma; adenocarcinoma

c.1264A>G; p.K422E;

endometriumcarcinoma; endometrioid_carcinoma

c.262G>A; p.A88T;

endometriumcarcinoma; endometrioid_carcinoma

c.461G>A; p.S154N;

endometriumcarcinoma; endometrioid_carcinoma

c.287A>C; p.Q96P;

endometriumcarcinoma; endometrioid_carcinoma

c.387C>G; p.L129L;

breastcarcinoma

c.1163A>G; p.E388G;

large_intestine; coloncarcinoma; adenocarcinoma

c.989G>A; p.R330H;

large_intestine; coloncarcinoma; adenocarcinoma

c.673G>T; p.G225*;

large_intestine; coloncarcinoma; adenocarcinoma

c.1740G>A; p.T580T;

large_intestine; coloncarcinoma; adenocarcinoma

c.134A>G; p.E45G;

large_intestine; coloncarcinoma; adenocarcinoma

c.534T>A; p.S178S;

large_intestine; coloncarcinoma; adenocarcinoma

c.610G>A; p.E204K;

endometriumcarcinoma; endometrioid_carcinoma

c.1820G>A; p.R607H;

endometriumcarcinoma; endometrioid_carcinoma

c.547T>C; p.W183R; 11:64332046-64332046

large_intestine; coloncarcinoma; adenocarcinoma

c.435C>A; p.S145R;

large_intestine; coloncarcinoma; adenocarcinoma

c.852A>G; p.A284A;

large_intestine; coloncarcinoma; adenocarcinoma

c.1546delC; p.R516fs*43;

large_intestine; caecumcarcinoma; adenocarcinoma

c.958C>T; p.P320S;

large_intestine; coloncarcinoma; adenocarcinoma

c.1654A>G; p.T552A;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1716G>A; p.S572S;

urinary_tract; bladdercarcinoma

c.387C>T; p.L129L;

urinary_tract; bladdercarcinoma

c.200C>A; p.P67H;

large_intestine; coloncarcinoma; adenocarcinoma

c.960C>A; p.P320P;

large_intestine; coloncarcinoma; adenocarcinoma

c.1656T>C; p.T552T;

large_intestine; rectumcarcinoma; adenocarcinoma

c.532T>C; p.S178P;

large_intestine; rectumcarcinoma; adenocarcinoma

c.249_252delGTCT; p.I85fs*33; 11:64333906-64333909

breastcarcinoma

c.225_229delCACCT; p.T76fs*39;

breastcarcinoma

c.1546_1547insC; p.R516fs*15; 11:64328668-64328669

breastcarcinoma

c.1740G>A; p.T580T;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1355G>A; p.R452Q;

prostatecarcinoma; adenocarcinoma

c.959C>A; p.P320H;

large_intestine; coloncarcinoma; adenocarcinoma

c.1654A>G; p.T552A;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1163A>G; p.E388G;

large_intestine; coloncarcinoma; adenocarcinoma

c.511C>T; p.R171W;

large_intestine; caecumcarcinoma; adenocarcinoma

c.89A>G; p.E30G;

large_intestine; coloncarcinoma; adenocarcinoma

c.1546delC; p.R516fs*43;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1740G>A; p.T580T;

large_intestine; coloncarcinoma; adenocarcinoma

c.1249T>A; p.Y417N;

prostatecarcinoma

c.590_591CC>TT; p.T197I;

skinmalignant_melanoma

c.640G>A; p.G214S;

skinmalignant_melanoma


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