| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 999 |
Name | CDH1 |
Synonymous | Arc-1|CD324|CDHE|ECAD|LCAM|UVO;cadherin 1, type 1, E-cadherin (epithelial);CDH1;cadherin 1, type 1, E-cadherin (epithelial) |
Definition | CAM 120/80|E-Cadherin|cadherin 1, E-cadherin (epithelial)|cadherin-1|calcium-dependent adhesion protein, epithelial|cell-CAM 120/80|epithelial cadherin|uvomorulin |
Position | 16q22.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CDH1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
CDH1_R63G; chr16; 68835596 |
SUB; MISSENSE; C; C/G; SOMATIC | MB; VALID; WGS |
CDH1_V329F; chr16; 68845739 |
SUB; MISSENSE; G; G/T; SOMATIC | MB; PUTATIVE-HQ; TARGETED_SEQUENCING |
CDH1_V493L; chr16; 68849574 |
SUB; MISSENSE; G; G/C; SOMATIC | MB; PUTATIVE-HQ; TARGETED_SEQUENCING |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.110_111insA; p.Y37fs*1; |
breast | carcinoma; lobular_carcinoma |
c.786_794CACCCAGGA>T; p.T263fs*3; 16:67401699-67401707 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ |
c.2287G>T; p.E763*; |
breast | carcinoma; lobular_carcinoma |
c.786_794CACCCAGGA>T; p.T263fs*3; 16:67401699-67401707 |
breast | carcinoma_in_situ; ductal_and_lobular_carcinoma_in_situ |
c.1010_1011insA; p.S337fs*13; 16:67403540-67403541 |
stomach | carcinoma; signet_ring_adenocarcinoma |
c.1008delG; p.S337fs*19; 16:67403263-67403263 |
stomach | carcinoma; signet_ring_adenocarcinoma |
c.1252_1269del18; p.D418_F423delDDGGQF; 16:67404831-67404848 |
stomach | carcinoma; undifferentiated_adenocarcinoma |
c.1198_1200delGAT; p.D400delD; 16:67404777-67404779 |
stomach | carcinoma; undifferentiated_adenocarcinoma |
c.1418T>A; p.V473D; 16:67407016-67407016 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1320+1delg; p.?; 16:67404900-67404900 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1137+?del?; p.?; |
stomach | carcinoma; diffuse_adenocarcinoma |
c.2253C>T; p.N751N; 16:67419666-67419666 |
stomach | carcinoma; intestinal_adenocarcinoma |
c.1320+1G>T; p.?; 16:67404900-67404900 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1109A>C; p.D370A; 16:67403639-67403639 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.?; p.S337_T379del; |
stomach | carcinoma; diffuse_adenocarcinoma |
c.?; p.Y380_K440del; |
stomach | carcinoma; diffuse_adenocarcinoma |
c.?; p.Y380_K440del; |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable |
c.?; p.Y380_K440del; |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1321_1389del69; p.G441_E463del23; 16:67406919-67406987 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.864C>T; p.D288D; 16:67403119-67403119 |
stomach | carcinoma; intestinal_adenocarcinoma |
c.?; p.S337_T379del; |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1009-3_1009-1delcag; p.?; 16:67403536-67403538 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1320+1G>C; p.?; 16:67404900-67404900 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.49_163del115; p.V17fs*1; 16:67329701-67329815 |
breast | carcinoma; lobular_carcinoma |
c.59G>A; p.W20*; 16:67329711-67329711 |
breast | carcinoma; lobular_carcinoma |
c.67C>T; p.Q23*; 16:67329719-67329719 |
breast | carcinoma; lobular_carcinoma |
c.164_387del224; p.V55fs*38; |
breast | carcinoma; lobular_carcinoma |
c.367C>T; p.H123Y; 16:67393277-67393277 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1009_1137del129; p.S337_T379del43; 16:67403539-67403667 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.469_531del63; p.V157_Q177del21; 16:67399909-67399971 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1138_1320del183; p.Y380_K440del61; 16:67404717-67404899 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.612_620delCTTTATTAT; p.F205_I207delFII; 16:67400177-67400185 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1793G>A; p.R598Q; 16:67413486-67413486 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1881_1888delAGCAGAAC; p.A628fs*32; 16:67413574-67413581 |
breast | carcinoma; lobular_carcinoma |
c.2029delC; p.Q677fs*2; 16:67414895-67414895 |
breast | carcinoma; lobular_carcinoma |
c.1387G>C; p.E463Q; 16:67406985-67406985 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1654G>A; p.D552N; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.760G>C; p.D254H; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.1947_1948insT; p.I650fs*13; |
breast | carcinoma; lobular_carcinoma |
c.240_241insGGTG; p.V82fs*13; 16:67393150-67393151 |
breast | carcinoma; lobular_carcinoma |
c.240_241insGGTG; p.V82fs*13; 16:67393150-67393151 |
breast | carcinoma; lobular_carcinoma |
c.240_241insGGTG; p.V82fs*13; 16:67393150-67393151 |
breast | carcinoma; lobular_carcinoma |
c.1009-2_1029del23; p.?; |
breast | carcinoma; lobular_carcinoma |
c.786_794CACCCAGGA>T; p.T263fs*3; 16:67401699-67401707 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ |
c.779C>T; p.P260L; 16:67401692-67401692 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ |
c.786_794CACCCAGGA>T; p.T263fs*3; 16:67401699-67401707 |
breast | carcinoma; ductal_carcinoma |
c.926_960del35; p.P309fs*29; |
breast | carcinoma; lobular_carcinoma |
c.22_43del22; p.L8fs*41; 16:67328841-67328862 |
breast | carcinoma; lobular_carcinoma |
c.1957A>T; p.K653*; |
breast | carcinoma; lobular_carcinoma |
c.1282A>G; p.N428D; 16:67404861-67404861 |
soft_tissue; fibrous_tissue_and_uncertain_o | synovial_sarcoma; biphasic |
c.116_117insT; p.T40fs*19; |
breast | carcinoma; lobular_carcinoma |
c.49_50insAG; p.V17fs*40; 16:67329701-67329702 |
breast | carcinoma; lobular_carcinoma |
c.1774G>A; p.A592T; 16:67413467-67413467 |
breast | carcinoma; HER-positive_carcinoma |
c.1054_1058delGGTGA; p.E353fs*13; 16:67403584-67403588 |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.136_143delCTGGAGAG; p.L46fs*10; 16:67329788-67329795 |
breast | carcinoma; ER-PR-positive_carcinoma |
c.1966_1987del22; p.M656fs*16; 16:67414832-67414853 |
breast | carcinoma; ER-PR-positive_carcinoma |
c.163G>C; p.V55L; 16:67329815-67329815 |
breast | carcinoma; ER-PR-positive_carcinoma |
c.96_97insA; p.D33fs*26; 16:67329748-67329749 |
breast | carcinoma; ER-PR-positive_carcinoma |
c.548_549delAC; p.D183fs*15; 16:67400113-67400114 |
breast | carcinoma; ER-PR-positive_carcinoma |
c.2294_2295insA; p.D766fs*3; 16:67419707-67419708 |
breast | carcinoma; ER-PR-positive_carcinoma |
c.172G>T; p.E58*; 16:67393082-67393082 |
breast | carcinoma; ER-PR-positive_carcinoma |
c.1774G>A; p.A592T; 16:67413467-67413467 |
breast | carcinoma; HER-positive_carcinoma |
c.1162G>T; p.E388*; |
breast | carcinoma; lobular_carcinoma |
c.1204G>C; p.D402H; 16:67404783-67404783 |
stomach | carcinoma; signet_ring_adenocarcinoma |
c.1223C>T; p.A408V; 16:67404802-67404802 |
stomach | carcinoma; signet_ring_adenocarcinoma |
c.67C>T; p.Q23*; 16:67329719-67329719 |
breast | carcinoma; lobular_carcinoma |
c.1109A>G; p.D370G; 16:67403639-67403639 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1320+5G>A; p.?; 16:67404904-67404904 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1105_1106insACCAAC; p.N369_D370insQH; 16:67403635-67403636 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1532_1535delAGGA; p.Q511fs*10; |
breast | carcinoma; lobular_carcinoma |
c.88C>A; p.P30T; 16:67329740-67329740 |
breast | carcinoma; lobular_carcinoma |
c.712A>G; p.N238D; |
soft_tissue; fat | liposarcoma; dedifferentiated |
c.1849G>A; p.A617T; 16:67413542-67413542 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour; spindle |
c.?; p.G577fs*7; |
ovary | carcinoma; endometrioid_carcinoma |
c.?; p.N240fs*10; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.2467delA; p.T823fs*23; |
breast | carcinoma; lobular_carcinoma |
c.2189delT; p.L731fs*39; |
breast | carcinoma; lobular_carcinoma |
c.1223C>T; p.A408V; 16:67404802-67404802 |
breast | carcinoma; lobular_carcinoma |
c.939_946delCAAAAATA; p.K314fs*4; |
breast | carcinoma; lobular_carcinoma |
c.1836delA; p.N613fs*18; 16:67413529-67413529 |
breast | carcinoma; lobular_carcinoma |
c.1009-2_1029del23; p.?; |
breast | carcinoma; lobular_carcinoma |
c.1778delC; p.I594fs*19; |
breast | carcinoma; lobular_carcinoma |
c.499G>T; p.E167*; |
breast | carcinoma; lobular_carcinoma |
c.1519_1525delTCCTACA; p.S507fs*13; 16:67407117-67407123 |
breast | carcinoma; lobular_carcinoma |
c.786_794CACCCAGGA>T; p.T263fs*3; 16:67401699-67401707 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ |
c.1711+1G>C; p.?; 16:67410830-67410830 |
breast | carcinoma; lobular_carcinoma |
c.371_372insC; p.P127fs*41; 16:67393281-67393282 |
breast | carcinoma; lobular_carcinoma |
c.862_867GACGCG>A; p.D288fs*3; 16:67403117-67403122 |
breast | carcinoma; lobular_carcinoma |
c.2321delG; p.G775fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.641T>G; p.L214R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.572G>A; p.S191N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2195G>A; p.R732Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1063delT; p.L355fs*1; |
breast | carcinoma; lobular_carcinoma |
c.2047_2048delGT; p.V683fs*4; 16:67414913-67414914 |
breast | carcinoma; lobular_carcinoma |
c.1041delT; p.A348fs*8; |
breast | carcinoma; lobular_carcinoma |
c.786_794CACCCAGGA>T; p.T263fs*3; 16:67401699-67401707 |
breast | carcinoma_in_situ; ductal_and_lobular_carcinoma_in_situ |
c.2222_2223insA; p.L742fs*6; 16:67419635-67419636 |
breast | carcinoma; lobular_carcinoma |
c.532-1G>T; p.?; 16:67400096-67400096 |
breast | carcinoma; lobular_carcinoma |
c.1529_1533delCCCAG; p.A510fs*25; 16:67407127-67407131 |
breast | carcinoma; lobular_carcinoma |
c.2155_2156insG; p.A719fs*29; |
breast | carcinoma; lobular_carcinoma |
c.2165-1G>A; p.?; 16:67419577-67419577 |
breast | carcinoma; lobular_carcinoma |
c.944A>G; p.N315S; 16:67403199-67403199 |
breast | carcinoma; lobular_carcinoma |
c.944A>G; p.N315S; 16:67403199-67403199 |
breast | carcinoma; lobular_carcinoma |
c.2095C>T; p.Q699*; 16:67414961-67414961 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.2355C>T; p.N785N; 16:67421117-67421117 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.2537G>C; p.S846T; 16:67424791-67424791 |
urinary_tract; bladder | carcinoma; squamous_cell_carcinoma |
c.856G>A; p.A286T; 16:67403111-67403111 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.362A>G; p.H121R; 16:67393272-67393272 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.2125G>A; p.A709T; 16:67414991-67414991 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.1366G>A; p.V456M; 16:67406964-67406964 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.1800A>G; p.I600M; 16:67413493-67413493 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.2410delC; p.D805fs*11; 16:67421172-67421172 |
breast | hyperplasia; atypical_lobular_hyperplasia |
c.274C>T; p.H92Y; 16:67393184-67393184 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.1323_1333del11; p.L442fs*18; 16:67406921-67406931 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.1676G>A; p.S559N; 16:67410794-67410794 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.185G>A; p.G62D; 16:67393095-67393095 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.1309_1310delAA; p.K437fs*8; 16:67404888-67404889 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.760G>T; p.D254Y; 16:67401673-67401673 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.989C>T; p.T330I; 16:67403244-67403244 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.2075C>T; p.A692V; 16:67414941-67414941 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.1595G>A; p.W532*; 16:67410713-67410713 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.2131C>G; p.L711V; 16:67414997-67414997 |
endometrium | carcinoma |
c.1849G>A; p.A617T; 16:67413542-67413542 |
endometrium | carcinoma |
c.377_378insC; p.P127fs*41; 16:67393287-67393288 |
endometrium | carcinoma |
c.2512A>G; p.S838G; 16:67424766-67424766 |
ovary | carcinoma |
c.1009-1G>A; p.?; 16:67403538-67403538 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1742T>C; p.L581P; 16:67413435-67413435 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1057G>T; p.E353*; 16:67403587-67403587 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1108G>C; p.D370H; 16:67403638-67403638 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1436A>G; p.D479G; 16:67407034-67407034 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1204G>A; p.D402N; 16:67404783-67404783 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1027delC; p.L343fs*13; 16:67403557-67403557 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1009-1G>A; p.?; 16:67403538-67403538 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.522_531+6del16; p.?; 16:67399962-67399977 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1000G>C; p.D334H; 16:67403255-67403255 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1320+26A>T; p.?; 16:67404925-67404925 |
stomach | carcinoma; signet_ring_adenocarcinoma |
c.1320+?del?; p.?; |
stomach | carcinoma; signet_ring_adenocarcinoma |
c.577A>C; p.T193P; 16:67400142-67400142 |
stomach | carcinoma; signet_ring_adenocarcinoma |
c.1320+?del?; p.?; |
stomach | carcinoma; signet_ring_adenocarcinoma |
c.1774G>A; p.A592T; 16:67413467-67413467 |
thyroid | carcinoma; papillary_carcinoma |
c.1196_1199delCTGA; p.T399fs*17; 16:67404775-67404778 |
breast | carcinoma; lobular_carcinoma |
c.1196_1199delCTGA; p.T399fs*17; 16:67404775-67404778 |
breast | carcinoma; lobular_carcinoma |
c.1196_1199delCTGA; p.T399fs*17; 16:67404775-67404778 |
breast | carcinoma; lobular_carcinoma |
c.781G>T; p.E261*; 16:67401694-67401694 |
breast | carcinoma; lobular_carcinoma |
c.1156G>T; p.E386*; 16:67404735-67404735 |
breast | carcinoma; lobular_carcinoma |
c.1510G>T; p.E504*; 16:67407108-67407108 |
breast | carcinoma; lobular_carcinoma |
c.60_79del20; p.W20fs*7; 16:67329712-67329731 |
breast | carcinoma; lobular_carcinoma |
c.1711G>A; p.G571S; 16:67410829-67410829 |
breast | carcinoma; lobular_carcinoma |
c.1627delT; p.S543fs*14; 16:67410745-67410745 |
breast | carcinoma; lobular_carcinoma |
c.207_208insA; p.S70fs*24; 16:67393117-67393118 |
breast | carcinoma; lobular_carcinoma |
c.1795_1796AC>T; p.T599fs*14; 16:67413488-67413489 |
breast | carcinoma; lobular_carcinoma |
c.846_867del22; p.E283fs*4; 16:67403101-67403122 |
breast | carcinoma; lobular_carcinoma |
c.884C>T; p.T295I; 16:67403139-67403139 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.1027C>T; p.L343L; 16:67403557-67403557 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.1107C>T; p.N369N; 16:67403637-67403637 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.900C>G; p.I300M; 16:67403155-67403155 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.1019C>T; p.T340M; 16:67403549-67403549 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.1070C>T; p.T357I; 16:67403600-67403600 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.925C>T; p.P309S; 16:67403180-67403180 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.922G>A; p.D308N; 16:67403177-67403177 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.2218C>T; p.P740S; 16:67419631-67419631 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.786_794delCACCCAGGA; p.F262_E265>L; 16:67401699-67401707 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.2321G>A; p.R774K; 16:67421083-67421083 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.856G>A; p.A286T; 16:67403111-67403111 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.893C>A; p.A298D; 16:67403148-67403148 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.763C>T; p.Q255*; 16:67401676-67401676 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.734C>T; p.P245L; 16:67401647-67401647 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.770A>G; p.D257G; 16:67401683-67401683 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.2552C>T; p.S851L; 16:67424806-67424806 |
breast | carcinoma_in_situ; lobular_carcinoma_in_situ |
c.1009-2A>C; p.?; 16:67403537-67403537 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1207_1208insC; p.N405fs*14; 16:67404786-67404787 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1215_1216insNNNNN; p.T406fs*13; 16:67404794-67404795 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1774G>A; p.A592T; 16:67413467-67413467 |
stomach | carcinoma; intestinal_adenocarcinoma |
c.1105A>G; p.N369D; 16:67403635-67403635 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable |
c.1009-1G>A; p.?; 16:67403538-67403538 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable |
c.1198G>T; p.D400Y; 16:67404777-67404777 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable |
c.1108G>C; p.D370H; 16:67403638-67403638 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable |
c.1009-1G>A; p.?; 16:67403538-67403538 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable |
c.1093G>C; p.V365L; 16:67403623-67403623 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable |
c.1057G>T; p.E353*; 16:67403587-67403587 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1108G>C; p.D370H; 16:67403638-67403638 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1436A>G; p.D479G; 16:67407034-67407034 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1204G>A; p.D402N; 16:67404783-67404783 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1027delC; p.L343fs*13; 16:67403557-67403557 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1742T>C; p.L581P; 16:67413435-67413435 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1009-1G>A; p.?; 16:67403538-67403538 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1040C>T; p.A347V; 16:67403570-67403570 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1000G>C; p.D334H; 16:67403255-67403255 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1733_1734insC; p.G579fs*9; 16:67413426-67413427 |
stomach | carcinoma; adenocarcinoma |
c.846G>A; p.M282I; 16:67403101-67403101 |
breast | carcinoma; ductal_carcinoma |
c.372delC; p.P126fs*89; 16:67393282-67393282 |
breast | carcinoma; ductal_carcinoma |
c.1890_1891insAC; p.G633fs*21; 16:67413583-67413584 |
breast | carcinoma; ductal_carcinoma |
c.2440-1G>C; p.?; 16:67424693-67424693 |
breast | carcinoma; ductal_carcinoma |
c.378_379insC; p.H128fs*40; 16:67393288-67393289 |
breast | carcinoma; lobular_carcinoma |
c.866_867delCG; p.A289fs*3; 16:67403121-67403122 |
breast | carcinoma; lobular_carcinoma |
c.864_865delCG; p.A289fs*3; 16:67403119-67403120 |
breast | carcinoma; lobular_carcinoma |
c.1161C>T; p.N387N; |
liver | carcinoma |
c.761_777del17; p.D254fs*9; 16:67401674-67401690 |
breast | carcinoma; lobular_carcinoma |
c.1844delT; p.I615fs*16; 16:67413537-67413537 |
breast | carcinoma; lobular_carcinoma |
c.459delG; p.R154fs*61; 16:67399899-67399899 |
breast | carcinoma; lobular_carcinoma |
c.2440-1G>A; p.?; 16:67424693-67424693 |
breast | carcinoma; lobular_carcinoma |
c.960_961ins?; p.?fs; 16:67403215-67403216 |
breast | carcinoma; lobular_carcinoma |
c.?; p.R335*; |
breast | carcinoma; lobular_carcinoma |
c.1009-2_1009-1delag; p.?; 16:67403537-67403538 |
breast | carcinoma; lobular_carcinoma |
c.2044_2062del19; p.E682fs*34; 16:67414910-67414928 |
breast | carcinoma; lobular_carcinoma |
c.532-1G>T; p.?; 16:67400096-67400096 |
breast | carcinoma; lobular_carcinoma |
c.786_787insA; p.T263fs*6; 16:67401699-67401700 |
breast | carcinoma; lobular_carcinoma |
c.?; p.Q346*; |
breast | carcinoma; lobular_carcinoma |
c.1548_1560del13; p.F516fs*2; 16:67407146-67407158 |
breast | carcinoma; lobular_carcinoma |
c.1948_1964del17; p.I650fs*7; 16:67414814-67414830 |
breast | carcinoma; lobular_carcinoma |
c.248_249ins41; p.T84fs*47; 16:67393158-67393159 |
breast | carcinoma; lobular_carcinoma |
c.1971delC; p.L658fs*1; 16:67414837-67414837 |
breast | carcinoma; lobular_carcinoma |
c.866_867delCG; p.A289fs*3; 16:67403121-67403122 |
breast | carcinoma; lobular_carcinoma |
c.1861delC; p.N622fs*9; 16:67413554-67413554 |
breast | carcinoma; lobular_carcinoma |
c.1693_1694ins?; p.?fs; 16:67410811-67410812 |
breast | carcinoma; lobular_carcinoma |
c.1564_1565insGT; p.T522fs*36; 16:67407162-67407163 |
breast | carcinoma; lobular_carcinoma |
c.1224delG; p.W409fs*8; 16:67404803-67404803 |
breast | carcinoma; lobular_carcinoma |
c.1712-1G>A; p.?; 16:67413404-67413404 |
breast | carcinoma |
c.1712-1G>A; p.?; 16:67413404-67413404 |
breast | carcinoma; luminal_NS_carcinoma |
c.1901C>T; p.A634V; 16:67413594-67413594 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.602delC; p.P201fs*14; 16:67400167-67400167 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1901C>T; p.A634V; 16:67413594-67413594 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.377delC; p.P126fs*89; 16:67393287-67393287 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1018A>G; p.T340A; 16:67403548-67403548 |
soft_tissue; fibrous_tissue_and_uncertain_o | alveolar_soft_part_sarcoma |
c.1489G>A; p.E497K; |
oesophagus | carcinoma; adenocarcinoma |
c.1596G>A; p.W532*; |
oesophagus | carcinoma; adenocarcinoma |
c.760G>A; p.D254N; |
oesophagus | carcinoma; adenocarcinoma |
c.1759G>T; p.D587Y; |
oesophagus | carcinoma; adenocarcinoma |
c.687+1_687+2delgt; p.?; 16:67400253-67400254 |
breast | carcinoma; ductal_carcinoma |
c.687+1_687+2delgt; p.?; 16:67400253-67400254 |
breast | carcinoma; luminal_NS_carcinoma |
c.1849G>A; p.A617T; 16:67413542-67413542 |
lung | carcinoma; mucoepidermoid_carcinoma |
c.427C>T; p.P143S; |
liver | carcinoma; hepatocellular_carcinoma |
c.665G>T; p.R222I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.360delG; p.H121fs*94; |
large_intestine; colon | carcinoma |
c.2574C>A; p.D858E; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.687+2T>G; p.?; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1320+2_1320+11deltttgtatggt; p.?; 16:67404901-67404910 |
stomach | carcinoma; signet_ring_adenocarcinoma |
c.377delC; p.P126fs*89; 16:67393287-67393287 |
stomach | carcinoma; intestinal_adenocarcinoma |
c.240_241insGGTG; p.V82fs*13; 16:67393150-67393151 |
breast | carcinoma; lobular_carcinoma |
c.357delG; p.H121fs*94; 16:67393267-67393267 |
oesophagus | carcinoma; adenocarcinoma |
c.357delG; p.H121fs*94; 16:67393267-67393267 |
oesophagus | carcinoma; adenocarcinoma |
c.1008G>A; p.E336E; 16:67403263-67403263 |
stomach | carcinoma; adenocarcinoma |
c.1008G>A; p.E336E; 16:67403263-67403263 |
stomach | carcinoma; signet_ring_adenocarcinoma |
c.194_195GG>TT; p.R65I; |
lung | carcinoma; adenocarcinoma |
c.2474C>T; p.P825L; |
lung | carcinoma; adenocarcinoma |
c.846G>T; p.M282I; |
lung | carcinoma; adenocarcinoma |
c.1252G>A; p.D418N; |
lung | carcinoma; adenocarcinoma |
c.2533C>G; p.L845V; |
lung | carcinoma; adenocarcinoma |
c.688_832del145; p.L230fs*4; 16:67401601-67401745 |
breast | carcinoma; luminal_NS_carcinoma |
c.568T>C; p.Y190H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.1913G>A; p.W638*; 16:67413606-67413606 |
breast | carcinoma; luminal_NS_carcinoma |
c.568T>C; p.Y190H; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.823_832+8del18; p.?; 16:67401736-67401753 |
stomach | carcinoma; adenocarcinoma |
c.823_832+8del18; p.?; 16:67401736-67401753 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.823_832+8del18; p.?; 16:67401736-67401753 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.1138_1320del183; p.Y380_K440del61; 16:67404717-67404899 |
breast | carcinoma; ductal_carcinoma |
c.1138-21_1138del22; p.?; 16:67404696-67404717 |
breast | carcinoma; luminal_NS_carcinoma |
c.493_510del18; p.E165_P170delENEKGP; 16:67399933-67399950 |
lung | carcinoma; adenocarcinoma |
c.49_163del115; p.V17fs*1; 16:67329701-67329815 |
breast | carcinoma |
c.49_163del115; p.V17fs*1; 16:67329701-67329815 |
breast | carcinoma; luminal_NS_carcinoma |
c.332C>T; p.S111F; |
bone | osteosarcoma |
c.1_2649del2649; p.0?; |
oesophagus | carcinoma; adenocarcinoma |
c.846delG; p.E283fs*11; |
breast | carcinoma |
c.2275delG; p.G759fs*11; |
breast | carcinoma |
c.1215_1234del20; p.T406fs*6; |
breast | carcinoma |
c.338_348del11; p.V114fs*50; |
breast | carcinoma |
c.1679C>G; p.T560R; |
breast | carcinoma |
c.86_89ACCC>GTG; p.H29fs*27; |
NS | NS |
c.1569T>G; p.Y523*; |
NS | NS |
c.1468G>A; p.E490K; |
NS | NS |
c.1475G>T; p.R492I; |
NS | NS |
c.1480G>T; p.E494*; |
NS | NS |
c.1342C>T; p.Q448*; |
NS | NS |
c.767A>T; p.N256I; |
prostate | carcinoma |
c.532-1G>C; p.?; 16:67400096-67400096 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.2450C>T; p.A817V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.2204C>T; p.A735V; |
lung | carcinoma; small_cell_carcinoma |
c.1198G>A; p.D400N; 16:67404777-67404777 |
stomach | carcinoma; undifferentiated_adenocarcinoma |
c.1829A>T; p.Q610L; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.583C>A; p.Q195K; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1214A>G; p.N405S; 16:67404793-67404793 |
upper_aerodigestive_tract; head_neck | carcinoma |
c.187C>G; p.R63G; |
central_nervous_system; brainstem | primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype |
c.985G>T; p.V329F; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1477G>C; p.V493L; |
central_nervous_system; brainstem | primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype |
c.1_1936del1936; p.?; |
breast | carcinoma; luminal_NS_carcinoma |
c.532-1G>C; p.?; 16:67400096-67400096 |
breast | carcinoma |
c.532-1G>C; p.?; 16:67400096-67400096 |
breast | carcinoma; luminal_NS_carcinoma |
c.?; p.P126fs*89; |
large_intestine | carcinoma; adenocarcinoma |
c.?; p.R74*; |
large_intestine | carcinoma; adenocarcinoma |
c.?; p.201fs*14; |
large_intestine | carcinoma; adenocarcinoma |
c.?; p.P126fs*89; |
large_intestine | carcinoma; adenocarcinoma |
c.1269delT; p.F423fs*8; 16:67404848-67404848 |
breast | carcinoma; lobular_carcinoma |
c.1269delT; p.F423fs*8; 16:67404848-67404848 |
breast | carcinoma; luminal_NS_carcinoma |
c.946A>G; p.M316V; 16:67403201-67403201 |
ovary | carcinoma; serous_carcinoma |
c.2213A>G; p.K738R; |
lung | carcinoma; adenocarcinoma |
c.1901C>T; p.A634V; 16:67413594-67413594 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.829C>T; p.P277S; |
lung | carcinoma; squamous_cell_carcinoma |
c.211C>T; p.L71F; |
lung | carcinoma; squamous_cell_carcinoma |
c.662A>T; p.D221V; |
ovary | carcinoma; serous_carcinoma |
c.1378G>T; p.V460L; |
lung | carcinoma; adenocarcinoma |
c.387G>T; p.Q129H; |
lung | carcinoma; adenocarcinoma |
c.1333G>C; p.E445Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.2173C>T; p.L725L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.727G>A; p.E243K; |
breast | carcinoma |
c.688-2A>G; p.?; |
breast | carcinoma |
c.1531C>T; p.Q511*; |
breast | carcinoma |
c.52_53insCA; p.S19fs*38; |
breast | carcinoma |
c.2267_2268insT; p.E757fs*1; |
breast | carcinoma |
c.2480_2481insTGAT; p.S829fs*1; |
breast | carcinoma |
c.1014delC; p.P339fs*17; |
breast | carcinoma |
c.187C>T; p.R63*; |
breast | carcinoma |
c.478_479insG; p.P160fs*8; |
breast | carcinoma |
c.2600A>G; p.N867S; |
breast | carcinoma |
c.2195G>A; p.R732Q; |
breast | carcinoma |
c.1207G>A; p.A403T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1711delG; p.G571fs*13; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1058A>G; p.E353G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1565+1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.173A>G; p.E58G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.866C>T; p.A289V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2252A>G; p.N751S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.762T>C; p.D254D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2538C>T; p.S846S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1106A>G; p.N369S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2552C>A; p.S851*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1040C>A; p.A347D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.939_940insA; p.N315fs*6; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1966_1972delATGGCCT; p.M656fs*1; |
breast | carcinoma |
c.727G>A; p.E243K; |
breast | carcinoma |
c.499_500insCCC; p.E167>AQ; |
breast | carcinoma |
c.1936+1G>A; p.?; |
breast | carcinoma |
c.871delG; p.D291fs*3; |
breast | carcinoma |
c.488_505del18; p.E165_P170delENEKGP; |
breast | carcinoma |
c.2291_2292insC; p.Q765fs*4; |
breast | carcinoma |
c.727G>A; p.E243K; |
breast | carcinoma |
c.1507C>T; p.Q503*; |
breast | carcinoma |
c.1200_1201insA; p.A401fs*2; |
breast | carcinoma |
c.1069A>G; p.T357A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1224G>A; p.A408A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2512A>G; p.S838G; 16:67424766-67424766 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1387G>T; p.E463*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.221G>A; p.R74Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1565+1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2512A>G; p.S838G; 16:67424766-67424766 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1093G>A; p.V365I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.871G>A; p.D291N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1003C>T; p.R335*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.302A>G; p.Y101C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1680G>A; p.T560T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.670C>T; p.R224C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.899T>C; p.I300T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.893C>T; p.A298V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1792C>T; p.R598*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.714C>T; p.N238N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1367T>C; p.V456A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2053G>A; p.V685M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.760G>A; p.D254N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.735A>G; p.P245P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.863A>G; p.D288G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1105A>G; p.N369D; 16:67403635-67403635 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.68A>G; p.Q23R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1942G>T; p.E648*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1423G>A; p.V475M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1009-2A>G; p.?; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.187C>T; p.R63*; |
breast | carcinoma |
c.2120delT; p.P708fs*14; |
breast | carcinoma |
c.1551delG; p.E518fs*4; |
breast | carcinoma |
c.1092_1098delAGTCACT; p.V365fs*26; |
breast | carcinoma |
c.103G>T; p.E35*; |
breast | carcinoma |
c.781G>A; p.E261K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.294C>A; p.F98L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1997A>G; p.N666S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1511delA; p.I505fs*17; |
breast | carcinoma |
c.2361_2374del14; p.A788fs*14; |
breast | carcinoma |
c.1946_1947insT; p.I650fs*13; |
breast | carcinoma |
c.2165-1G>T; p.?; |
breast | carcinoma |
c.899T>C; p.I300T; |
large_intestine | carcinoma; adenocarcinoma |
c.762T>C; p.D254D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1711+2T>A; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.681A>G; p.T227T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1671G>T; p.K557N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.771C>T; p.D257D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1564A>G; p.T522A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1792C>T; p.R598*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1913G>A; p.W638*; 16:67413606-67413606 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1018A>G; p.T340A; 16:67403548-67403548 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.728A>G; p.E243G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.780C>A; p.P260P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1027C>A; p.L343M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2320A>G; p.R774G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.925C>A; p.P309T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2184G>A; p.L728L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2185C>T; p.L729L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.944A>G; p.N315S; 16:67403199-67403199 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.388-2A>G; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.671G>A; p.R224H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2074G>A; p.A692T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2280C>T; p.G760G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2195G>A; p.R732Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1817A>T; p.N606I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.847_861del15; p.E283_T287delEVTAT; |
breast | carcinoma |
c.692_693delTC; p.H233fs*10; |
breast | carcinoma |
c.67C>T; p.Q23*; 16:67329719-67329719 |
breast | carcinoma |
c.779C>A; p.P260H; |
breast | carcinoma |
c.1320+1G>C; p.?; 16:67404900-67404900 |
breast | carcinoma |
c.475delC; p.P159fs*56; |
breast | carcinoma |
c.2266_2267insAT; p.E757fs*14; |
breast | carcinoma |
c.688-1G>A; p.?; |
breast | carcinoma |
c.1743_1744insCTGC; p.L583fs*6; |
breast | carcinoma |
c.106delA; p.S36fs*20; |
breast | carcinoma |
c.187C>T; p.R63*; |
breast | carcinoma |
c.371_372insC; p.P127fs*41; 16:67393281-67393282 |
breast | carcinoma |
c.2224C>T; p.L742L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2246G>A; p.R749Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.284A>T; p.Q95L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2471C>T; p.A824V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2521G>A; p.E841K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.398C>T; p.S133F; |
urinary_tract; bladder | carcinoma |
c.1930G>A; p.D644N; |
breast | carcinoma |
c.1875_1876insT; p.T627fs*36; |
breast | carcinoma |
c.1058A>G; p.E353G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.88C>T; p.P30S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.394G>A; p.V132I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1199A>G; p.D400G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2514C>T; p.S838S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.67C>T; p.Q23*; 16:67329719-67329719 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1058A>G; p.E353G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1058A>G; p.E353G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1009-2A>G; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1089_1090delCA; p.T364fs*3; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1283A>G; p.N428S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.186T>C; p.G62G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1849G>A; p.A617T; 16:67413542-67413542 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1711+2T>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.733C>T; p.P245S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.861A>G; p.T287T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2551T>C; p.S851P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.174A>G; p.E58E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1157A>G; p.E386G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1565+1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1711G>A; p.G571S; 16:67410829-67410829 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.220C>T; p.R74*; 16:67393130-67393130 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.220C>T; p.R74*; 16:67393130-67393130 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.697C>T; p.H233Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.184G>A; p.G62S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1058A>G; p.E353G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.68A>G; p.Q23R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.375C>A; p.P125P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.734C>T; p.P245L; 16:67401647-67401647 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.900C>A; p.I300I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1795A>G; p.T599A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.184G>T; p.G62C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1205A>G; p.D402G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1594T>C; p.W532R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1798A>G; p.I600V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1435G>T; p.D479Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1565+1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1795A>G; p.T599A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.884C>T; p.T295I; 16:67403139-67403139 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2253C>T; p.N751N; 16:67419666-67419666 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.263C>A; p.P88H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1058A>G; p.E353G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1711+2T>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1018A>G; p.T340A; 16:67403548-67403548 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1774_1775insC; p.I594fs*11; |
breast | carcinoma |
c.811_820del10; p.M272fs*7; |
breast | carcinoma |
c.67C>T; p.Q23*; 16:67329719-67329719 |
breast | carcinoma |
c.1936+1G>T; p.?; |
breast | carcinoma |
c.1137G>A; p.T379T; |
breast | carcinoma |
c.1367T>C; p.V456A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1156G>A; p.E386K; |
urinary_tract; bladder | carcinoma |
c.1913G>T; p.W638L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1059G>A; p.E353E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1058A>G; p.E353G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1796C>T; p.T599I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1070C>A; p.T357K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1019C>G; p.T340R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1435G>T; p.D479Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1594T>C; p.W532R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1008G>A; p.E336E; 16:67403263-67403263 |
breast | carcinoma |
c.931_932insT; p.D313fs*1; |
breast | carcinoma |
c.1785_1810del26; p.P597fs*11; |
breast | carcinoma |
c.1819C>T; p.P607S; |
breast | carcinoma |
c.2032_2033insT; p.T679fs*9; |
breast | carcinoma |
c.832+1G>A; p.?; |
breast | carcinoma |
c.698A>G; p.H233R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2002A>T; p.K668*; |
breast | carcinoma |
c.67C>T; p.Q23*; 16:67329719-67329719 |
breast | carcinoma |
c.1496_1497insG; p.F499fs*38; |
breast | carcinoma |
c.769G>A; p.D257N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1528G>A; p.A510T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.372delC; p.P126fs*89; 16:67393282-67393282 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2132T>A; p.L711Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.318C>T; p.T106T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.741G>A; p.E247E; |
urinary_tract; bladder | carcinoma |
c.727G>C; p.E243Q; |
urinary_tract; bladder | carcinoma |
c.937G>A; p.D313N; |
urinary_tract; bladder | carcinoma |
c.1094T>C; p.V365A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2536A>G; p.S846G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1711+2T>C; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.764A>T; p.Q255L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1564A>G; p.T522A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.735A>T; p.P245P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1057G>A; p.E353K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.372delC; p.P126fs*89; 16:67393282-67393282 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.221G>A; p.R74Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1136C>T; p.T379M; |
prostate | carcinoma; adenocarcinoma |
c.2392C>G; p.L798V; |
urinary_tract; bladder | carcinoma |
c.1226G>T; p.W409L; |
breast | carcinoma |
c.337A>G; p.K113E; |
urinary_tract; bladder | carcinoma |
c.1565C>T; p.T522I; 16:67407163-67407163 |
breast | carcinoma; luminal_NS_carcinoma |
c.699C>G; p.H233Q; 16:67401612-67401612 |
breast | carcinoma; luminal_NS_carcinoma |
c.1297G>A; p.D433N; |
prostate | carcinoma |
c.269_270GG>AA; p.R90Q; |
skin | malignant_melanoma |
c.2022T>A; p.N674K; |
skin | malignant_melanoma |
c.739G>A; p.E247K; |
skin; mucosal | malignant_melanoma |
c.727G>T; p.E243*; 16:67401640-67401640 |
breast | carcinoma; luminal_NS_carcinoma |
c.379delC; p.H128fs*87; |
stomach | adenocarcinoma |
c.2080G>A; p.V694I; |
stomach | adenocarcinoma |