| Gene ID | 4221 |
| Symbol | MEN1 |
| Synonymous | MEAI|SCG2 |
| Full name | multiple endocrine neoplasia I |
| Gene description | menin |
| Cytoband | 11q13 |
| Gene type | protein-coding |
| Synonymous | MIM:613733; HGNC:HGNC:7010; Ensembl:ENSG00000133895; HPRD:00564; Vega:OTTHUMG00000045366 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.654+3A>G; p.?; 11:64807888-64807888 |
parathyroid | adenoma | Unknown |
c.654+3A>G; p.?; 11:64807888-64807888 |
lung | carcinoid-endocrine_tumour; typical | Unknown |
c.256A>T; p.I86F; 11:64809854-64809854 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma | Substitution - Missense |
c.419delT; p.I140fs*45; 11:64809691-64809691 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.1220_1221delCT; p.P407fs*41; 11:64805163-64805164 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.291_292delCC; p.I97fs*19; 11:64809818-64809819 |
parathyroid | adenoma | Deletion - Frameshift |
c.491C>T; p.A164V; 11:64808054-64808054 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.354_356delGAA; p.K119del; 11:64809754-64809756 |
parathyroid | adenoma | Deletion - In frame |
c.491C>T; p.A164V; 11:64808054-64808054 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.505G>T; p.G169C; 11:64808040-64808040 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.1_109del109; p.M1fs*82; 11:64810001-64810109 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.291_292delCC; p.I97fs*19; 11:64809818-64809819 |
parathyroid | adenoma | Deletion - Frameshift |
c.354_356delGAA; p.K119del; 11:64809754-64809756 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour | Deletion - In frame |
c.1033delG; p.A345fs*23; 11:64806248-64806248 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.1033delG; p.A345fs*23; 11:64806248-64806248 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.1704delC; p.K569fs*19; 11:64804463-64804463 |
parathyroid | adenoma-hyperplasia_NS | Deletion - Frameshift |
c.1033delG; p.A345fs*23; 11:64806248-64806248 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.1228T>C; p.F410L; 11:64805156-64805156 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.161_162insG; p.I54fs*63; 11:64809948-64809949 |
parathyroid | adenoma | Insertion - Frameshift |
c.1606C>T; p.Q536*; 11:64804561-64804561 |
parathyroid | adenoma | Substitution - Nonsense |
c.1606C>T; p.Q536*; 11:64804561-64804561 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.324A>T; p.R108R; 11:64809786-64809786 |
breast | carcinoma | Substitution - coding silent |
c.1779C>A; p.S593S; 11:64804388-64804388 |
breast | carcinoma | Substitution - coding silent |
c.593G>A; p.W198*; 11:64807952-64807952 |
parathyroid | adenoma | Substitution - Nonsense |
c.1341_1341delT; p.F447fs*11; 11:64805043-64805043 |
parathyroid | adenoma | Deletion - Frameshift |
c.1256delG; p.G419fs*26; 11:64805128-64805128 |
parathyroid | carcinoma | Deletion - Frameshift |
c.247_250delCTGT; p.I85fs*33; 11:64809860-64809863 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.247_250delCTGT; p.I85fs*33; 11:64809860-64809863 |
stomach | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.328G>T; p.G110W; 11:64809782-64809782 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1539_1540insC; p.R516fs*15; 11:64804627-64804628 |
lung | carcinoid-endocrine_tumour; typical | Insertion - Frameshift |
c.1539_1540insC; p.R516fs*15; 11:64804627-64804628 |
parathyroid | adenoma | Insertion - Frameshift |
c.230delA; p.Y77fs*42; 11:64809880-64809880 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - Frameshift |
c.1313_1331del19; p.T438fs*14; 11:64805053-64805071 |
parathyroid | adenoma | Deletion - Frameshift |
c.282_282delC; p.A95fs*24; 11:64809828-64809828 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.1739C>T; p.T580M; 11:64804428-64804428 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1355G>A; p.R452Q; 11:64804812-64804812 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.654+2T>A; p.?; 11:64807889-64807889 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Unknown |
c.981C>G; p.Y327*; 11:64806300-64806300 |
parathyroid | adenoma | Substitution - Nonsense |
c.467_468insT; p.V157fs*23; 11:64808077-64808078 |
parathyroid | adenoma | Insertion - Frameshift |
c.669G>A; p.L223L; 11:64807666-64807666 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.561_561delG; p.N189fs*35; 11:64807984-64807984 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.203_203delC; p.D70fs*49; 11:64809907-64809907 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.168_171delCAAC; p.N57fs*61; 11:64809939-64809942 |
parathyroid | carcinoma | Deletion - Frameshift |
c.808C>A; p.L270M; 11:64807195-64807195 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.1510C>A; p.L504M; 11:64804657-64804657 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1072G>A; p.E358K; 11:64805748-64805748 |
skin | malignant_melanoma | Substitution - Missense |
c.784-1G>C; p.?; 11:64807220-64807220 |
parathyroid | adenoma | Unknown |
c.196_201AGCCCC>T; p.S66fs*49; 11:64809909-64809914 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma | Complex - frameshift |
c.253A>G; p.I85V; 11:64809857-64809857 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1654A>G; p.T552A; 11:64804513-64804513 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.817_818delCT; p.L273fs*43; 11:64807185-64807186 |
pancreas | carcinoid-endocrine_tumour; islet_cell | Deletion - Frameshift |
c.1654A>G; p.T552A; 11:64804513-64804513 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.759_771del13; p.L254fs*23; 11:64807564-64807576 |
parathyroid | adenoma | Deletion - Frameshift |
c.131_132insT; p.E45fs*72; 11:64809978-64809979 |
lung | carcinoid-endocrine_tumour; typical | Insertion - Frameshift |
c.1360delA; p.K454fs*4; 11:64804807-64804807 |
parathyroid | adenoma | Deletion - Frameshift |
c.98_105delACCTGGTG; p.D33fs*81; 11:64810005-64810012 |
lung | carcinoid-endocrine_tumour; atypical | Deletion - Frameshift |
c.533_534insC; p.E179fs*1; 11:64808011-64808012 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma | Insertion - Frameshift |
c.1159delG; p.E387fs*58; 11:64805661-64805661 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.959C>T; p.P320L; 11:64806322-64806322 |
parathyroid | adenoma | Substitution - Missense |
c.1795_1796delAC; p.T599fs*>12; 11:64804371-64804372 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Deletion - Frameshift |
c.1683G>A; p.M561I; 11:64804484-64804484 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1681A>G; p.M561V; 11:64804486-64804486 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1546_1547insC; p.R516fs*15; 11:64804620-64804621 |
parathyroid | adenoma | Insertion - Frameshift |
c.1546_1547insC; p.R516fs*15; 11:64804620-64804621 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1546_1547insC; p.R516fs*15; 11:64804620-64804621 |
parathyroid | adenoma | Insertion - Frameshift |
c.1546_1547insC; p.R516fs*15; 11:64804620-64804621 |
breast | carcinoma | Insertion - Frameshift |
c.1073A>G; p.E358G; 11:64805747-64805747 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1546_1547insC; p.R516fs*15; 11:64804620-64804621 |
parathyroid | adenoma | Insertion - Frameshift |
c.89_91delAGG; p.E31del; 11:64810019-64810021 |
parathyroid | adenoma | Deletion - In frame |
c.548G>A; p.W183*; 11:64807997-64807997 |
skin | malignant_melanoma | Substitution - Nonsense |
c.548G>A; p.W183*; 11:64807997-64807997 |
pancreas | carcinoid-endocrine_tumour | Substitution - Nonsense |
c.763G>A; p.E255K; 11:64807572-64807572 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.678A>G; p.S226S; 11:64807657-64807657 |
liver | carcinoma | Substitution - coding silent |
c.1163A>G; p.E388G; 11:64805657-64805657 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.678A>G; p.S226S; 11:64807657-64807657 |
liver | carcinoma | Substitution - coding silent |
c.262G>A; p.A88T; 11:64809848-64809848 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1163A>G; p.E388G; 11:64805657-64805657 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.995G>A; p.R332H; 11:64806286-64806286 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.401_401delT; p.F134fs*51; 11:64809709-64809709 |
parathyroid | adenoma | Deletion - Frameshift |
c.1324C>T; p.Q442*; 11:64805060-64805060 |
pancreas | carcinoid-endocrine_tumour | Substitution - Nonsense |
c.446_446delG; p.G149fs*36; 11:64808099-64808099 |
parathyroid | adenoma | Deletion - Frameshift |
c.1324C>T; p.Q442*; 11:64805060-64805060 |
parathyroid | adenoma | Substitution - Nonsense |
c.1324C>T; p.Q442*; 11:64805060-64805060 |
parathyroid | adenoma | Substitution - Nonsense |
c.79_95del17; p.L27fs*84; 11:64810015-64810031 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.1025C>T; p.A342V; 11:64806256-64806256 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1025C>T; p.A342V; 11:64806256-64806256 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.850G>C; p.A284P; 11:64807073-64807073 |
parathyroid | adenoma-hyperplasia_NS | Substitution - Missense |
c.511C>T; p.R171W; 11:64808034-64808034 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.654G>T; p.R218R; 11:64807891-64807891 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; large_cell | Substitution - coding silent |
c.1091_1095delTCTTT; p.F364fs*1; 11:64805725-64805729 |
parathyroid | adenoma | Deletion - Frameshift |
c.960_960delC; p.Y321fs*47; 11:64806321-64806321 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.248_251delTGTC; p.I85fs*33; 11:64809859-64809862 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.362T>A; p.V121D; 11:64809748-64809748 |
parathyroid | carcinoma | Substitution - Missense |
c.376T>G; p.W126G; 11:64809734-64809734 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Substitution - Missense |
c.527_539del13; p.A176fs*5; 11:64808006-64808018 |
parathyroid | adenoma | Deletion - Frameshift |
c.484G>T; p.V162F; 11:64808061-64808061 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.833_858del26; p.M278fs*30; 11:64807065-64807090 |
parathyroid | adenoma | Deletion - Frameshift |
c.237_237delC; p.V80fs*39; 11:64809873-64809873 |
pituitary | adenoma; GH-PRL | Deletion - Frameshift |
c.1357C>T; p.Q453*; 11:64804810-64804810 |
parathyroid | adenoma | Substitution - Nonsense |
c.472G>A; p.A158T; 11:64808073-64808073 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1318_1319delCT; p.L440fs*8; 11:64805065-64805066 |
thymus | carcinoid-endocrine_tumour; ACTH | Deletion - Frameshift |
c.1809C>G; p.L603L; 11:64804358-64804358 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1413G>A; p.W471*; 11:64804754-64804754 |
central_nervous_system; fourth_ventricle | glioma; ependymoma_Grade_III-IV | Substitution - Nonsense |
c.1413G>A; p.W471*; 11:64804754-64804754 |
central_nervous_system; spinal_cord | glioma; ependymoma_Grade_III-IV | Substitution - Nonsense |
c.111_112insT; p.S38fs*79; 11:64809998-64809999 |
parathyroid | adenoma | Insertion - Frameshift |
c.1413G>A; p.W471*; 11:64804754-64804754 |
central_nervous_system; fourth_ventricle | glioma; ependymoma_Grade_III-IV | Substitution - Nonsense |
c.405delG; p.D136fs*49; 11:64809705-64809705 |
parathyroid | adenoma | Deletion - Frameshift |
c.1267T>C; p.W423R; 11:64805117-64805117 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.303_316del14; p.D102fs*10; 11:64809794-64809807 |
parathyroid | adenoma | Deletion - Frameshift |
c.90_140del51; p.E30_F47>D; 11:64809970-64810020 |
parathyroid | adenoma | Complex - deletion inframe |
c.753C>T; p.T251T; 11:64807582-64807582 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.989G>A; p.R330H; 11:64806292-64806292 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; non_functioning | Substitution - Missense |
c.989G>A; p.R330H; 11:64806292-64806292 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1252G>A; p.D418N; 11:64805132-64805132 |
parathyroid | adenoma | Substitution - Missense |
c.194_219del26; p.P65fs*43; 11:64809891-64809916 |
parathyroid | adenoma | Deletion - Frameshift |
c.640G>A; p.G214S; 11:64807905-64807905 |
skin | malignant_melanoma | Substitution - Missense |
c.1298_1311>GCA; p.H433fs*12; 11:64805073-64805086 |
parathyroid | adenoma | Complex - frameshift |
c.39delG; p.R14fs*105; 11:64810071-64810071 |
parathyroid | adenoma | Deletion - Frameshift |
c.248_272del25; p.L83fs*28; 11:64809838-64809862 |
NS | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.372_393del22; p.I125fs*53; 11:64809717-64809738 |
parathyroid | adenoma | Deletion - Frameshift |
c.988C>T; p.R330C; 11:64806293-64806293 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1256G>A; p.G419D; 11:64805128-64805128 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.959C>G; p.P320R; 11:64806322-64806322 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.784-2A>G; p.?; 11:64807221-64807221 |
pancreas | carcinoid-endocrine_tumour | Unknown |
c.422A>G; p.Q141R; 11:64809688-64809688 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Substitution - Missense |
c.199_202delCCCG; p.A68fs*50; 11:64809908-64809911 |
parathyroid | adenoma | Deletion - Frameshift |
c.465C>T; p.S155S; 11:64808080-64808080 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.794delG; p.W265fs*16; 11:64807209-64807209 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.674G>T; p.G225V; 11:64807661-64807661 |
pancreas | carcinoid-endocrine_tumour; islet_cell | Substitution - Missense |
c.135G>T; p.E45D; 11:64809975-64809975 |
parathyroid | adenoma-hyperplasia_NS | Substitution - Missense |
c.1395C>T; p.A465A; 11:64804772-64804772 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.159_165delCATCCCT; p.I54fs*63; 11:64809945-64809951 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.1162G>T; p.E388*; 11:64805658-64805658 |
parathyroid | adenoma | Substitution - Nonsense |
c.1038_1038delT; p.V347fs*21; 11:64806243-64806243 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.628_631delACAG; p.T210fs*13; 11:64807914-64807917 |
parathyroid | adenoma | Deletion - Frameshift |
c.357G>A; p.K119K; 11:64809753-64809753 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1240_1275del36; p.L414_E425del; 11:64805109-64805144 |
parathyroid | hyperplasia | Deletion - In frame |
c.884G>A; p.R295Q; 11:64807039-64807039 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.402delC; p.F134fs*51; 11:64809708-64809708 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.1739C>G; p.T580R; 11:64804428-64804428 |
parathyroid | adenoma-hyperplasia_NS | Substitution - Missense |
c.398_430del33; p.Y133_L143del; 11:64809680-64809712 |
parathyroid | adenoma | Deletion - In frame |
c.398_430del33; p.Y133_L143del; 11:64809680-64809712 |
parathyroid | adenoma-hyperplasia_NS | Deletion - In frame |
c.113_123del11; p.S38fs*75; 11:64809987-64809997 |
parathyroid | adenoma | Deletion - Frameshift |
c.288_308del21; p.I97_L103del; 11:64809802-64809822 |
parathyroid | adenoma | Deletion - In frame |
c.958C>T; p.P320S; 11:64806323-64806323 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.598G>A; p.G200S; 11:64807947-64807947 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.625C>T; p.Q209*; 11:64807920-64807920 |
parathyroid | adenoma | Substitution - Nonsense |
c.403A>T; p.K135*; 11:64809707-64809707 |
soft_tissue; fibrous_tissue_and_uncertain_o | angiofibroma | Substitution - Nonsense |
c.652_653delCG; p.R218fs*13; 11:64807892-64807893 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.610G>A; p.E204K; 11:64807935-64807935 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.547T>C; p.W183R; 11:64807998-64807998 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.547T>C; p.W183R; 11:64807998-64807998 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.547T>C; p.W183R; 11:64807998-64807998 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.495_495delC; p.Q166fs*19; 11:64808050-64808050 |
parathyroid | adenoma | Deletion - Frameshift |
c.499_523del25; p.A167fs*10; 11:64808022-64808046 |
parathyroid | adenoma | Deletion - Frameshift |
c.710C>T; p.A237V; 11:64807625-64807625 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.673delG; p.G225fs*56; 11:64807662-64807662 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.654+1G>A; p.?; 11:64807890-64807890 |
lung | carcinoid-endocrine_tumour; atypical | Unknown |
c.754_761delGACTCGCT; p.D252fs*15; 11:64807574-64807581 |
parathyroid | adenoma | Deletion - Frameshift |
c.597_597C>GG; p.H199fs*19; 11:64807948-64807948 |
parathyroid | adenoma-hyperplasia_NS | Complex - frameshift |
c.434_435insT; p.F146fs*34; 11:64809675-64809676 |
pancreas | carcinoid-endocrine_tumour; insulinoma | Insertion - Frameshift |
c.1657delT; p.F553fs*6; 11:64804510-64804510 |
parathyroid | hyperplasia | Deletion - Frameshift |
c.1657delT; p.F553fs*6; 11:64804510-64804510 |
parathyroid | adenoma-hyperplasia_NS | Deletion - Frameshift |
c.241_242insG; p.A81fs*36; 11:64809868-64809869 |
parathyroid | adenoma | Insertion - Frameshift |
c.1248C>G; p.F416L; 11:64805136-64805136 |
thyroid | carcinoma; medullary_carcinoma | Substitution - Missense |
c.620delG; p.G208fs*16; 11:64807925-64807925 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.620delG; p.G208fs*16; 11:64807925-64807925 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.620delG; p.G208fs*16; 11:64807925-64807925 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.620delG; p.G208fs*16; 11:64807925-64807925 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.981_982insAGC; p.Y327_H328insS; 11:64806299-64806300 |
parathyroid | adenoma | Insertion - In frame |
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861 |
lung | carcinoid-endocrine_tumour; atypical | Deletion - Frameshift |
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861 |
lung | carcinoid-endocrine_tumour; atypical | Deletion - Frameshift |
c.824+2T>G; p.?; 11:64807177-64807177 |
parathyroid | adenoma | Unknown |
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861 |
lung | carcinoid-endocrine_tumour; atypical | Deletion - Frameshift |
c.1249T>A; p.Y417N; 11:64805135-64805135 |
prostate | carcinoma | Substitution - Missense |
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861 |
breast | carcinoma | Deletion - Frameshift |
c.824+2T>G; p.?; 11:64807177-64807177 |
parathyroid | adenoma | Unknown |
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861 |
parathyroid | adenoma | Deletion - Frameshift |
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861 |
pancreas | carcinoid-endocrine_tumour; islet_cell | Deletion - Frameshift |
c.249_252delGTCT; p.I85fs*33; 11:64809858-64809861 |
pancreas | carcinoid-endocrine_tumour; vipoma | Deletion - Frameshift |
c.44_59del16; p.S15fs*99; 11:64810051-64810066 |
parathyroid | adenoma | Deletion - Frameshift |
c.1351-1_1357delGGTGCGGC; p.?; 11:64804810-64804817 |
parathyroid | adenoma | Unknown |
c.1505A>T; p.K502M; 11:64804662-64804662 |
pituitary | adenoma; non_functioning | Substitution - Missense |
c.909C>T; p.H303H; 11:64807014-64807014 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.210_225del16; p.D70fs*44; 11:64809885-64809900 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.824+2T>G; p.?; 11:64807009-64807009 |
breast | carcinoma | Unknown |
c.272_275delCCCG; p.R92fs*26; 11:64809835-64809838 |
parathyroid | adenoma | Deletion - Frameshift |
c.272_275delCCCG; p.R92fs*26; 11:64809835-64809838 |
parathyroid | adenoma | Deletion - Frameshift |
c.272_275delCCCG; p.R92fs*26; 11:64809835-64809838 |
parathyroid | adenoma | Deletion - Frameshift |
c.1198C>T; p.Q400*; 11:64805186-64805186 |
pancreas | carcinoid-endocrine_tumour | Substitution - Nonsense |
c.483_484GG>TT; p.V162F; 11:64808061-64808062 |
parathyroid | adenoma-hyperplasia_NS | Substitution - Missense |
c.272_275delCCCG; p.R92fs*26; 11:64809835-64809838 |
parathyroid | adenoma | Deletion - Frameshift |
c.185_186insT; p.F63fs*54; 11:64809924-64809925 |
parathyroid | adenoma | Insertion - Frameshift |
c.1050-2A>G; p.?; 11:64805772-64805772 |
pituitary | adenoma; TSH | Unknown |
c.212_218delCGCCTGG; p.P72fs*45; 11:64809892-64809898 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.322C>T; p.R108*; 11:64809788-64809788 |
pancreas | carcinoid-endocrine_tumour | Substitution - Nonsense |
c.322C>T; p.R108*; 11:64809788-64809788 |
parathyroid | adenoma | Substitution - Nonsense |
c.1623_1652del30; p.A542_L551del; 11:64804515-64804544 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma | Deletion - In frame |
c.671_675delAAGGA; p.K224fs*6; 11:64807660-64807664 |
parathyroid | adenoma-hyperplasia_NS | Deletion - Frameshift |
c.1222G>C; p.E408Q; 11:64805162-64805162 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1682T>C; p.M561T; 11:64804485-64804485 |
parathyroid | adenoma | Substitution - Missense |
c.349C>G; p.L117V; 11:64809761-64809761 |
small_intestine | carcinoid-endocrine_tumour | Substitution - Missense |
c.1702_1706delACCAA; p.T568fs*27; 11:64804461-64804465 |
parathyroid | adenoma | Deletion - Frameshift |
c.588_589insA; p.T197fs*21; 11:64807956-64807957 |
parathyroid | adenoma-hyperplasia_NS | Insertion - Frameshift |
c.134A>G; p.E45G; 11:64809976-64809976 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1718_1723delGCGCCA; p.S573_A574delSA; 11:64804444-64804449 |
liver | carcinoma | Deletion - In frame |
c.124G>A; p.G42S; 11:64809986-64809986 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour | Substitution - Missense |
c.972G>A; p.L324L; 11:64806309-64806309 |
liver | carcinoma | Substitution - coding silent |
c.1604C>T; p.A535V; 11:64804563-64804563 |
pancreas | carcinoid-endocrine_tumour; insulinoma | Substitution - Missense |
c.124G>A; p.G42S; 11:64809986-64809986 |
parathyroid | adenoma | Substitution - Missense |
c.266T>G; p.L89R; 11:64809844-64809844 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Missense |
c.266T>G; p.L89R; 11:64809844-64809844 |
parathyroid | hyperplasia | Substitution - Missense |
c.512G>A; p.R171Q; 11:64808033-64808033 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Missense |
c.884G>T; p.R295L; 11:64807039-64807039 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.266T>G; p.L89R; 11:64809844-64809844 |
pancreas | carcinoid-endocrine_tumour; glucagonoma | Substitution - Missense |
c.512G>A; p.R171Q; 11:64808033-64808033 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.476T>G; p.F159C; 11:64808069-64808069 |
NS | carcinoid-endocrine_tumour; gastrinoma | Substitution - Missense |
c.631G>T; p.V211F; 11:64807914-64807914 |
parathyroid | carcinoma | Substitution - Missense |
c.512G>A; p.R171Q; 11:64808033-64808033 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>A; p.S154N; 11:64808084-64808084 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1716G>A; p.S572S; 11:64804451-64804451 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.559_568del10; p.P188fs*33; 11:64807977-64807986 |
parathyroid | adenoma | Deletion - Frameshift |
c.491C>A; p.A164D; 11:64808054-64808054 |
parathyroid | adenoma | Substitution - Missense |
c.811G>T; p.G271*; 11:64807192-64807192 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.585G>A; p.E195E; 11:64807960-64807960 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.207_207delC; p.D70fs*49; 11:64809903-64809903 |
parathyroid | adenoma | Deletion - Frameshift |
c.207_207delC; p.D70fs*49; 11:64809903-64809903 |
parathyroid | adenoma | Deletion - Frameshift |
c.329G>C; p.G110A; 11:64809781-64809781 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.496C>T; p.Q166*; 11:64808049-64808049 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.496C>T; p.Q166*; 11:64808049-64808049 |
breast | carcinoma; lobular_carcinoma | Substitution - Nonsense |
c.1045C>T; p.Q349*; 11:64806236-64806236 |
skin | malignant_melanoma | Substitution - Nonsense |
c.914G>A; p.G305D; 11:64806367-64806367 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1635_1635delG; p.P546fs*13; 11:64804532-64804532 |
parathyroid | adenoma | Deletion - Frameshift |
c.252_253insT; p.I85fs*32; 11:64809857-64809858 |
parathyroid | hyperplasia | Insertion - Frameshift |
c.378G>A; p.W126*; 11:64809732-64809732 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma | Substitution - Nonsense |
c.1116delC; p.N374fs*3; 11:64805704-64805704 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.95C>G; p.P32R; 11:64810015-64810015 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.252_253insT; p.I85fs*32; 11:64809857-64809858 |
parathyroid | adenoma-hyperplasia_NS | Insertion - Frameshift |
c.252_253insT; p.I85fs*32; 11:64809857-64809858 |
lung | carcinoid-endocrine_tumour | Insertion - Frameshift |
c.95C>G; p.P32R; 11:64810015-64810015 |
parathyroid | adenoma | Substitution - Missense |
c.1159G>A; p.E387K; 11:64805661-64805661 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.491_493delCCT; p.A164_C165>G; 11:64808052-64808054 |
parathyroid | adenoma | Complex - deletion inframe |
c.532T>C; p.S178P; 11:64808013-64808013 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.152_152delA; p.N51fs*68; 11:64809958-64809958 |
parathyroid | adenoma | Deletion - Frameshift |
c.532T>C; p.S178P; 11:64808013-64808013 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1546delC; p.R516fs*43; 11:64804621-64804621 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1546delC; p.R516fs*43; 11:64804621-64804621 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1656T>C; p.T552T; 11:64804511-64804511 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1546delC; p.R516fs*43; 11:64804621-64804621 |
liver | carcinoma | Deletion - Frameshift |
c.802_803delTA; p.Y268fs*1; 11:64807200-64807201 |
parathyroid | adenoma | Deletion - Frameshift |
c.824+1G>A; p.?; 11:64807178-64807178 |
parathyroid | adenoma | Unknown |
c.1546delC; p.R516fs*43; 11:64804621-64804621 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1546delC; p.R516fs*43; 11:64804621-64804621 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.115_163del49; p.V40fs*63; 11:64809947-64809995 |
parathyroid | adenoma | Deletion - Frameshift |
c.151delA; p.N51fs*68; 11:64809959-64809959 |
parathyroid | adenoma | Deletion - Frameshift |
c.534T>A; p.S178S; 11:64808011-64808011 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.342delC; p.R115fs*4; 11:64809768-64809768 |
parathyroid | adenoma-hyperplasia_NS | Deletion - Frameshift |
c.323G>T; p.R108L; 11:64809787-64809787 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1628C>T; p.S543L; 11:64804539-64804539 |
NS | carcinoid-endocrine_tumour; gastrinoma | Substitution - Missense |
c.445+2delTTGG; p.?; 11:64809660-64809663 |
parathyroid | hyperplasia | Unknown |
c.63_176del114; p.L22_P59del; 11:64809934-64810047 |
parathyroid | adenoma | Deletion - In frame |
c.498G>A; p.Q166Q; 11:64808047-64808047 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1034delC; p.T346fs*22; 11:64806247-64806247 |
parathyroid | adenoma-hyperplasia_NS | Deletion - Frameshift |
c.599G>A; p.G200D; 11:64807946-64807946 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.783+1G>T; p.?; 11:64807178-64807178 |
parathyroid | adenoma | Unknown |
c.550_550delG; p.V184fs*1; 11:64807995-64807995 |
parathyroid | adenoma | Deletion - Frameshift |
c.806_824del19; p.?; 11:64807176-64807197 |
pituitary | adenoma; GH-PRL | Unknown |
c.581_582insACAG; p.E195fs*2; 11:64807963-64807964 |
pancreas | carcinoid-endocrine_tumour | Insertion - Frameshift |
c.800_822del23; p.L267fs*42; 11:64807181-64807203 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.225_229delCACCT; p.T76fs*39; 11:64809881-64809885 |
breast | carcinoma | Deletion - Frameshift |
c.473C>A; p.A158D; 11:64808072-64808072 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Missense |
c.1177C>T; p.Q393*; 11:64805643-64805643 |
thymus | carcinoid-endocrine_tumour | Substitution - Nonsense |
c.180G>C; p.E60D; 11:64809930-64809930 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.936C>G; p.Y312*; 11:64806345-64806345 |
lung | carcinoid-endocrine_tumour; typical | Substitution - Nonsense |
c.936C>G; p.Y312*; 11:64806345-64806345 |
parathyroid | adenoma | Substitution - Nonsense |
c.51delC; p.D17fs*102; 11:64810059-64810059 |
soft_tissue; fat | lipoma | Deletion - Frameshift |
c.1021T>G; p.W341G; 11:64806260-64806260 |
liver | carcinoma | Substitution - Missense |
c.901_901delC; p.L301fs*67; 11:64807022-64807022 |
parathyroid | adenoma | Deletion - Frameshift |
c.536A>T; p.E179V; 11:64808009-64808009 |
pancreas | carcinoid-endocrine_tumour; glucagonoma | Substitution - Missense |
c.702G>A; p.M234I; 11:64807633-64807633 |
skin | malignant_melanoma | Substitution - Missense |
c.804_824del21; p.Y268_R275>*; 11:64807179-64807199 |
parathyroid | adenoma | Complex - deletion inframe |
c.221delG; p.G74fs*45; 11:64809889-64809889 |
parathyroid | hyperplasia | Deletion - Frameshift |
c.646G>A; p.A216T; 11:64807899-64807899 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Missense |
c.218_228>CCT; p.G73fs*41; 11:64809882-64809892 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Complex - frameshift |
c.50_53delACGA; p.D17fs*101; 11:64810057-64810060 |
pancreas | carcinoid-endocrine_tumour; islet_cell | Deletion - Frameshift |
c.152_153delAC; p.N51fs*65; 11:64809957-64809958 |
parathyroid | adenoma | Deletion - Frameshift |
c.1241T>C; p.L414P; 11:64805143-64805143 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.881G>A; p.G294D; 11:64807042-64807042 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.440_442delTCA; p.I147del; 11:64809668-64809670 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Deletion - In frame |
c.83_118del36; p.G28_L39del; 11:64809992-64810027 |
parathyroid | adenoma | Deletion - In frame |
c.200C>A; p.P67H; 11:64809910-64809910 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1405G>T; p.E469*; 11:64804762-64804762 |
parathyroid | hyperplasia | Substitution - Nonsense |
c.989G>C; p.R330P; 11:64806292-64806292 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Substitution - Missense |
c.989G>C; p.R330P; 11:64806292-64806292 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Substitution - Missense |
c.1287G>A; p.T429T; 11:64805097-64805097 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.1287G>A; p.T429T; 11:64805097-64805097 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - coding silent |
c.512G>T; p.R171L; 11:64808033-64808033 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.150_151insC; p.N51fs*66; 11:64809959-64809960 |
parathyroid | adenoma | Insertion - Frameshift |
c.363_367delCTCCG; p.S122fs*56; 11:64809743-64809747 |
parathyroid | adenoma | Deletion - Frameshift |
c.1264A>G; p.K422E; 11:64805120-64805120 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1813C>A; p.R605R; 11:64804354-64804354 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1050_1051delCT; p.?; 11:64805769-64805775 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour | Unknown |
c.1802C>G; p.S601C; 11:64804365-64804365 |
breast | carcinoma | Substitution - Missense |
c.341_376>TC; p.S114fs*60; 11:64809734-64809769 |
parathyroid | hyperplasia | Complex - frameshift |
c.242delC; p.D82fs*37; 11:64809868-64809868 |
parathyroid | adenoma-hyperplasia_NS | Deletion - Frameshift |
c.437delT; p.F146fs*39; 11:64809673-64809673 |
parathyroid | adenoma | Deletion - Frameshift |
c.703G>A; p.E235K; 11:64807632-64807632 |
parathyroid | adenoma | Substitution - Missense |
c.654+3A>G; p.?; 11:64807888-64807888 |
parathyroid | adenoma | Unknown |
c.764_765insA; p.L256fs*14; 11:64807570-64807571 |
NS | carcinoid-endocrine_tumour; gastrinoma | Insertion - Frameshift |
c.397_398insT; p.Y133fs*47; 11:64809712-64809713 |
parathyroid | adenoma | Insertion - Frameshift |
c.1243C>T; p.R415*; 11:64805141-64805141 |
lung | carcinoid-endocrine_tumour; typical | Substitution - Nonsense |
c.435C>A; p.S145R; 11:64809675-64809675 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.695G>A; p.R232H; 11:64807640-64807640 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.343_356del14; p.R115fs*60; 11:64809754-64809767 |
parathyroid | adenoma | Deletion - Frameshift |
c.377_377delG; p.W126fs*1; 11:64809733-64809733 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.660G>A; p.W220*; 11:64807675-64807675 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1546C>T; p.R516W; 11:64804621-64804621 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.182_183insG; p.T62fs*55; 11:64809927-64809928 |
parathyroid | adenoma | Insertion - Frameshift |
c.1248_1267del20; p.F416fs*26; 11:64805117-64805136 |
parathyroid | adenoma | Deletion - Frameshift |
c.205_206insC; p.D70fs*47; 11:64809904-64809905 |
parathyroid | adenoma | Insertion - Frameshift |
c.1300G>A; p.V434M; 11:64805084-64805084 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1621A>G; p.T541A; 11:64804546-64804546 |
lung | carcinoid-endocrine_tumour; typical | Substitution - Missense |
c.660_668del9; p.L221_L223del; 11:64807667-64807675 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Deletion - In frame |
c.24_36del13; p.K8fs*107; 11:64810074-64810086 |
lung | carcinoid-endocrine_tumour; atypical | Deletion - Frameshift |
c.268delT; p.Y90fs*29; 11:64809842-64809842 |
pituitary | adenoma; PRL | Deletion - Frameshift |
c.1091_1099del9; p.F364_V367>L; 11:64805721-64805729 |
parathyroid | adenoma | Complex - deletion inframe |
c.323G>C; p.R108P; 11:64809787-64809787 |
breast | carcinoma | Substitution - Missense |
c.1132G>T; p.E378*; 11:64805688-64805688 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Nonsense |
c.1336C>T; p.R446C; 11:64805048-64805048 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; non_functioning | Substitution - Missense |
c.1154_1155insG; p.E387fs*22; 11:64805665-64805666 |
parathyroid | adenoma | Insertion - Frameshift |
c.1431_1440del10; p.E477fs*79; 11:64804727-64804736 |
parathyroid | adenoma | Deletion - Frameshift |
c.1270G>T; p.E424*; 11:64805114-64805114 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1231_1231delG; p.A411fs*34; 11:64805153-64805153 |
parathyroid | adenoma | Deletion - Frameshift |
c.429C>T; p.L143L; 11:64809681-64809681 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.553G>T; p.V185L; 11:64807992-64807992 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.304_311delGACCTGTC; p.D102fs*12; 11:64809799-64809806 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Deletion - Frameshift |
c.553G>T; p.V185L; 11:64807992-64807992 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1230C>A; p.F410L; 11:64805154-64805154 |
pituitary | adenoma; ACTH | Substitution - Missense |
c.1169_1170ins11; p.G391fs*58; 11:64805650-64805651 |
parathyroid | adenoma | Insertion - Frameshift |
c.1716_1721delGAGCGC; p.S573_A574del; 11:64804446-64804451 |
parathyroid | adenoma | Deletion - In frame |
c.287A>C; p.Q96P; 11:64809823-64809823 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.851C>A; p.A284E; 11:64807072-64807072 |
pancreas | carcinoma | Substitution - Missense |
c.654+1G>T; p.?; 11:64807890-64807890 |
pancreas | carcinoid-endocrine_tumour | Unknown |
c.178G>T; p.E60*; 11:64809932-64809932 |
parathyroid | adenoma | Substitution - Nonsense |
c.1254C>T; p.D418D; 11:64805130-64805130 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.539A>T; p.D180V; 11:64808006-64808006 |
parathyroid | adenoma | Substitution - Missense |
c.774G>C; p.Q258H; 11:64807561-64807561 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1254C>T; p.D418D; 11:64805130-64805130 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.734delC; p.P245fs*36; 11:64807601-64807601 |
pancreas | carcinoid-endocrine_tumour; glucagonoma | Deletion - Frameshift |
c.1254C>T; p.D418D; 11:64805130-64805130 |
thyroid | other; neoplasm | Substitution - coding silent |
c.412delG; p.A138fs*47; 11:64809698-64809698 |
pancreas | carcinoid-endocrine_tumour; vipoma | Deletion - Frameshift |
c.201_202insG; p.A68fs*49; 11:64809908-64809909 |
parathyroid | adenoma | Insertion - Frameshift |
c.1084_1091delAAGGAGTT; p.K362fs*2; 11:64805729-64805736 |
parathyroid | adenoma | Deletion - Frameshift |
c.758C>T; p.S253L; 11:64807577-64807577 |
prostate | carcinoma | Substitution - Missense |
c.1310C>A; p.A437D; 11:64805074-64805074 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.758C>T; p.S253L; 11:64807577-64807577 |
prostate | carcinoma | Substitution - Missense |
c.1351-4C>T; p.?; 11:64804820-64804820 |
adrenal_gland; adrenal_gland | adrenal_cortical_hyperplasia | Unknown |
c.758C>T; p.S253L; 11:64807577-64807577 |
parathyroid | adenoma-hyperplasia_NS | Substitution - Missense |
c.435C>G; p.S145R; 11:64809675-64809675 |
pancreas | carcinoid-endocrine_tumour; non_functioning | Substitution - Missense |
c.292C>T; p.R98*; 11:64809818-64809818 |
parathyroid | adenoma | Substitution - Nonsense |
c.1102_1108delGCCAATG; p.A368fs*7; 11:64805712-64805718 |
NS | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.163_173del11; p.P55fs*58; 11:64809937-64809947 |
parathyroid | adenoma | Deletion - Frameshift |
c.1074_1075GG>AA; p.E359K; 11:64805745-64805746 |
soft_tissue; fibrous_tissue_and_uncertain_o | angiofibroma | Substitution - Missense |
c.292C>T; p.R98*; 11:64809818-64809818 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.292C>T; p.R98*; 11:64809818-64809818 |
gastrointestinal_tract_(site_indeterminate) | carcinoid-endocrine_tumour; gastrinoma | Substitution - Nonsense |
c.292C>T; p.R98*; 11:64809818-64809818 |
pancreas | carcinoid-endocrine_tumour; non_functioning | Substitution - Nonsense |
c.1102_1108delGCCAATG; p.A368fs*7; 11:64805712-64805718 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.1351delG; p.V451fs*7; 11:64804816-64804816 |
lung | carcinoid-endocrine_tumour; atypical | Deletion - Frameshift |
c.292C>T; p.R98*; 11:64809818-64809818 |
parathyroid | adenoma | Substitution - Nonsense |
c.1102_1108delGCCAATG; p.A368fs*7; 11:64805712-64805718 |
small_intestine; duodenum | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.156_156delC; p.V53fs*66; 11:64809954-64809954 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.135G>C; p.E45D; 11:64809975-64809975 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.8_42>GGCCT; p.L3_R14>RP; 11:64810068-64810102 |
parathyroid | hyperplasia | Complex - deletion inframe |
c.510C>T; p.L170L; 11:64808035-64808035 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.292delC; p.R98fs*21; 11:64809818-64809818 |
parathyroid | adenoma | Deletion - Frameshift |
c.781C>T; p.Q261*; 11:64807554-64807554 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.959C>A; p.P320H; 11:64806322-64806322 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.387C>G; p.L129L; 11:64809723-64809723 |
breast | carcinoma | Substitution - coding silent |
c.1367G>A; p.R456H; 11:64804800-64804800 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.373_374delAT; p.I125fs*54; 11:64809736-64809737 |
NS | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.373_374delAT; p.I125fs*54; 11:64809736-64809737 |
NS | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.673G>T; p.G225*; 11:64807662-64807662 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.650A>T; p.E217V; 11:64807895-64807895 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.361_362insGGAG; p.V121fs*60; 11:64809748-64809749 |
parathyroid | adenoma | Insertion - Frameshift |
c.373_374delAT; p.I125fs*54; 11:64809736-64809737 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.1740G>A; p.T580T; 11:64804427-64804427 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1740G>A; p.T580T; 11:64804427-64804427 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1342G>T; p.E448*; 11:64805042-64805042 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Nonsense |
c.1740G>A; p.T580T; 11:64804427-64804427 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1049+1G>C; p.?; 11:64806231-64806231 |
pancreas | carcinoid-endocrine_tumour | Unknown |
c.1283C>T; p.P428L; 11:64805101-64805101 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.984C>T; p.H328H; 11:64806297-64806297 |
ovary | other; neoplasm | Substitution - coding silent |
c.1820G>A; p.R607H; 11:64804347-64804347 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.923C>T; p.S308L; 11:64806358-64806358 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.617_624delGCAGGGGC; p.R206fs*9; 11:64807921-64807928 |
parathyroid | adenoma | Deletion - Frameshift |
c.721_724delTGTG; p.C241fs*39; 11:64807611-64807614 |
parathyroid | adenoma | Deletion - Frameshift |
c.912+1delG; p.?; 11:64807010-64807010 |
parathyroid | hyperplasia | Unknown |
c.387C>T; p.L129L; 11:64809723-64809723 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.751_751delA; p.T251fs*30; 11:64807584-64807584 |
parathyroid | adenoma | Deletion - Frameshift |
c.484_485GT>TG; p.V162C; 11:64808060-64808061 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Substitution - Missense |
c.473C>T; p.A158V; 11:64808072-64808072 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1636_1637insCCACCGCC; p.E547fs*15; 11:64804530-64804531 |
parathyroid | adenoma | Insertion - Frameshift |
c.230_230delA; p.Y77fs*42; 11:64809880-64809880 |
parathyroid | adenoma | Deletion - Frameshift |
c.515A>T; p.D172V; 11:64808030-64808030 |
lung | carcinoid-endocrine_tumour | Substitution - Missense |
c.230_230delA; p.Y77fs*42; 11:64809880-64809880 |
parathyroid | adenoma | Deletion - Frameshift |
c.230_230delA; p.Y77fs*42; 11:64809880-64809880 |
parathyroid | adenoma | Deletion - Frameshift |
c.427_427delC; p.L143fs*42; 11:64809683-64809683 |
lung | carcinoid-endocrine_tumour; typical | Deletion - Frameshift |
c.1628C>A; p.S543*; 11:64804539-64804539 |
pancreas | carcinoid-endocrine_tumour; islet_cell | Substitution - Nonsense |
c.1245_1245delA; p.F416fs*29; 11:64805139-64805139 |
parathyroid | adenoma | Deletion - Frameshift |
c.536A>G; p.E179G; 11:64808009-64808009 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.1071C>T; p.D357D; 11:64805749-64805749 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1378C>T; p.R460*; 11:64804789-64804789 |
parathyroid | adenoma | Substitution - Nonsense |
c.1396G>A; p.E466K; 11:64804771-64804771 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.248delT; p.L83fs*36; 11:64809862-64809862 |
pancreas | carcinoma | Deletion - Frameshift |
c.1830C>A; p.L610L; 11:64804337-64804337 |
skin | malignant_melanoma | Substitution - coding silent |
c.871C>G; p.P291A; 11:64807052-64807052 |
parathyroid | adenoma | Substitution - Missense |
c.812G>C; p.G271A; 11:64807191-64807191 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.960C>A; p.P320P; 11:64806321-64806321 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1206C>T; p.S402S; 11:64805178-64805178 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1720G>T; p.A574S; 11:64804447-64804447 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.960C>A; p.P320P; 11:64806321-64806321 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.37_97del61; p.L13fs*86; 11:64810013-64810073 |
pancreas | carcinoid-endocrine_tumour; gastrinoma | Deletion - Frameshift |
c.868G>C; p.E290Q; 11:64807055-64807055 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.325G>T; p.E109*; 11:64809785-64809785 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Substitution - Nonsense |
c.871C>T; p.P291S; 11:64807052-64807052 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1654A>T; p.T552S; 11:64804513-64804513 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1654A>T; p.T552S; 11:64804513-64804513 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma | Substitution - Missense |
c.125G>A; p.G42D; 11:64809985-64809985 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.125G>A; p.G42D; 11:64809985-64809985 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; non_functioning | Substitution - Missense |
c.88G>T; p.E30*; 11:64810022-64810022 |
pancreas | carcinoid-endocrine_tumour | Substitution - Nonsense |
c.852A>G; p.A284A; 11:64807071-64807071 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1508G>A; p.G503D; 11:64804659-64804659 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.912+2T>A; p.?; 11:64807009-64807009 |
parathyroid | adenoma-hyperplasia_NS | Unknown |
c.65T>G; p.L22R; 11:64810045-64810045 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.89A>G; p.E30G; 11:64810021-64810021 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1659C>G; p.F553L; 11:64804508-64804508 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.725_742del18; p.A242_I247del; 11:64807593-64807610 |
parathyroid | adenoma | Deletion - In frame |
c.686G>A; p.R229H; 11:64807649-64807649 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.76G>A; p.E26K; 11:64810034-64810034 |
parathyroid | adenoma | Substitution - Missense |
c.686G>A; p.R229H; 11:64807649-64807649 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.415C>T; p.H139Y; 11:64809695-64809695 |
parathyroid | adenoma | Substitution - Missense |
c.1327T>C; p.S443P; 11:64805057-64805057 |
parathyroid | adenoma | Substitution - Missense |
c.1327T>C; p.S443P; 11:64805057-64805057 |
parathyroid | adenoma | Substitution - Missense |
c.139T>A; p.F47I; 11:64809971-64809971 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1217delA; p.D406fs*39; 11:64805167-64805167 |
retroperitoneum | carcinoid-endocrine_tumour | Deletion - Frameshift |
c.1361_1362delAG; p.K454fs*76; 11:64804805-64804806 |
parathyroid | hyperplasia | Deletion - Frameshift |
c.258_261delCGCC; p.I86fs*32; 11:64809849-64809852 |
parathyroid | adenoma | Deletion - Frameshift |
c.590_591CC>TT; p.T197I; 11:64807954-64807955 |
skin | malignant_melanoma | Substitution - Missense |
c.1252G>T; p.D418Y; 11:64805132-64805132 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.784_804del21; p.K262_Y268del; 11:64807199-64807219 |
parathyroid | adenoma | Deletion - In frame |
c.794_802del9; p.W265_L267del; 11:64807201-64807209 |
parathyroid | adenoma | Deletion - In frame |
c.1482_1483insC; p.K496fs*35; 11:64804684-64804685 |
parathyroid | adenoma | Insertion - Frameshift |
c.134A>T; p.E45V; 11:64809976-64809976 |
lung | carcinoid-endocrine_tumour | Substitution - Missense |
c.533C>A; p.S178Y; 11:64808012-64808012 |
pancreas | carcinoid-endocrine_tumour; non_functioning | Substitution - Missense |
c.655-1G>A; p.?; 11:64807681-64807681 |
liver | carcinoma | Unknown |
c.655-1G>A; p.?; 11:64807681-64807681 |
liver | carcinoma | Unknown |
c.1439G>A; p.R480Q; 11:64804728-64804728 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.207_220del14; p.D70fs*42; 11:64809890-64809903 |
parathyroid | adenoma | Deletion - Frameshift |
c.1-20_51del71; p.?; 11:64810059-64810129 |
parathyroid | adenoma | Unknown |
c.1125_1128delGCTG; p.L376fs*68; 11:64805692-64805695 |
parathyroid | adenoma | Deletion - Frameshift |
c.1410G>A; p.P470P; 11:64804757-64804757 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.479C>A; p.A160D; 11:64808066-64808066 |
parathyroid | adenoma | Substitution - Missense |
c.479C>A; p.A160D; 11:64808066-64808066 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.330_346del17; p.G111fs*63; 11:64809764-64809780 |
pancreas | carcinoid-endocrine_tumour | Deletion - Frameshift |