| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5789 |
Name | PTPRD |
Synonymous | HPTP|HPTPD|HPTPDELTA|PTPD|RPTPDELTA;protein tyrosine phosphatase, receptor type, D;PTPRD;protein tyrosine phosphatase, receptor type, D |
Definition | R-PTP-delta|protein tyrosine phosphatase, receptor type, delta polypeptide|protein-tyrosine phosphatase delta|receptor-type tyrosine-protein phosphatase delta |
Position | 9p23-p24.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PTPRD | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
PTPRD_E721D; chr9; 8499806 |
SUB; MISSENSE; C; C/A; SOMATIC | MB; PUTATIVE-HQ; TARGETED_SEQUENCING |
PTPRD_K320_E10splice_region; chr9; 8518438 |
SUB; SPLICE_REGION; G; G/C; SOMATIC | MB; PUTATIVE-HQ; TARGETED_SEQUENCING |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1324G>T; p.E442*; |
liver | carcinoma; hepatocellular_carcinoma |
c.4411A>G; p.S1471G; |
lung | carcinoma; squamous_cell_carcinoma |
c.5503G>T; p.G1835C; |
lung | carcinoma; adenocarcinoma |
c.3256A>G; p.T1086A; |
lung | carcinoma; adenocarcinoma |
c.3452G>A; p.R1151H; |
lung | carcinoma; squamous_cell_carcinoma |
c.3122C>T; p.P1041L; |
skin; lower_leg | malignant_melanoma |
c.418A>G; p.T140A; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1496G>T; p.G499V; |
lung | carcinoma; small_cell_carcinoma |
c.1495G>T; p.G499*; |
lung | carcinoma; small_cell_carcinoma |
c.817G>A; p.A273T; |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.1448T>A; p.V483E; 9:8507943-8507943 |
lung | carcinoma; adenocarcinoma |
c.3770C>G; p.P1257R; 9:8450516-8450516 |
lung | carcinoma; adenocarcinoma |
c.1204G>T; p.G402W; 9:8508187-8508187 |
lung | carcinoma; adenocarcinoma |
c.1009A>G; p.T337A; 9:8508382-8508382 |
lung | carcinoma; adenocarcinoma |
c.3107T>A; p.L1036Q; 9:8475273-8475273 |
lung | carcinoma; adenocarcinoma |
c.1337G>A; p.G446E; |
skin; scalp | malignant_melanoma |
c.1750C>A; p.R584S; 9:8494333-8494333 |
lung | carcinoma; adenocarcinoma |
c.5109T>G; p.S1703R; 9:8331107-8331107 |
lung | carcinoma; adenocarcinoma |
c.5260T>G; p.C1754G; |
skin; ear | malignant_melanoma |
c.4607G>T; p.R1536L; 9:8365990-8365990 |
lung | carcinoma; adenocarcinoma |
c.5426C>G; p.P1809R; 9:8321690-8321690 |
lung | carcinoma; adenocarcinoma |
c.3742G>A; p.D1248N; |
skin | malignant_melanoma |
c.5403G>T; p.R1801S; |
lung | carcinoma; small_cell_carcinoma |
c.2626A>T; p.K876*; |
skin; shoulder | malignant_melanoma |
c.182G>A; p.G61E; |
skin; back | malignant_melanoma |
c.5119G>A; p.G1707R; |
skin; shoulder | malignant_melanoma |
c.5436A>C; p.G1812G; |
NS | malignant_melanoma |
c.5436A>C; p.G1812G; |
NS | malignant_melanoma |
c.3115G>A; p.E1039K; |
skin; chest | malignant_melanoma |
c.4429C>T; p.H1477Y; |
skin; shoulder | malignant_melanoma |
c.4966G>T; p.A1656S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3492G>A; p.M1164I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.416G>A; p.R139H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.559C>G; p.P187A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1510T>C; p.S504P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4081T>C; p.Y1361H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5155G>T; p.G1719W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1111G>A; p.D371N; |
lung | carcinoma; small_cell_carcinoma |
c.1010C>T; p.T337I; |
lung | carcinoma; small_cell_carcinoma |
c.5068C>T; p.P1690S; |
skin; face | malignant_melanoma |
c.5069C>T; p.P1690L; |
skin; face | malignant_melanoma |
c.3007G>A; p.G1003R; |
skin; shoulder | malignant_melanoma |
c.2508G>A; p.M836I; |
skin; leg | malignant_melanoma |
c.4241A>G; p.N1414S; |
pancreas | carcinoma |
c.4693G>A; p.V1565I; |
skin; forearm | malignant_melanoma |
c.5533A>T; p.S1845C; |
lung | carcinoma; small_cell_carcinoma |
c.4389G>A; p.V1463V; |
breast | carcinoma; HER-positive_carcinoma |
c.4163A>G; p.N1388S; |
pancreas | carcinoma; acinar_carcinoma |
c.2690C>T; p.A897V; |
pancreas | carcinoma; acinar_carcinoma |
c.694C>T; p.R232C; |
liver | carcinoma; hepatocellular_carcinoma |
c.3299C>T; p.T1100M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2675T>C; p.V892A; 9:8476142-8476142 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1348G>T; p.G450*; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3699G>A; p.M1233I; |
oesophagus | carcinoma; adenocarcinoma |
c.185A>G; p.K62R; |
oesophagus | carcinoma; adenocarcinoma |
c.3325C>G; p.R1109G; |
oesophagus | carcinoma; adenocarcinoma |
c.3067A>C; p.N1023H; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.4164T>A; p.N1388K; |
oesophagus | carcinoma; adenocarcinoma |
c.4249G>A; p.D1417N; |
oesophagus | carcinoma; adenocarcinoma |
c.5693G>A; p.R1898H; |
oesophagus | carcinoma; adenocarcinoma |
c.4067A>G; p.K1356R; |
oesophagus | carcinoma; adenocarcinoma |
c.4129T>G; p.L1377V; |
oesophagus | carcinoma; adenocarcinoma |
c.5316T>A; p.D1772E; |
oesophagus | carcinoma; adenocarcinoma |
c.1285T>C; p.L429L; |
oesophagus | carcinoma; adenocarcinoma |
c.3124G>T; p.E1042*; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.4159G>A; p.A1387T; |
oesophagus | carcinoma; adenocarcinoma |
c.1677G>C; p.E559D; |
oesophagus | carcinoma; adenocarcinoma |
c.610A>C; p.K204Q; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.3390A>G; p.E1130E; |
oesophagus | carcinoma; adenocarcinoma |
c.1095A>C; p.E365D; |
oesophagus | carcinoma; adenocarcinoma |
c.1516G>A; p.D506N; |
oesophagus | carcinoma; adenocarcinoma |
c.1625A>C; p.D542A; |
oesophagus | carcinoma; adenocarcinoma |
c.540A>G; p.S180S; |
oesophagus | carcinoma; adenocarcinoma |
c.3093G>C; p.K1031N; |
oesophagus | carcinoma; adenocarcinoma |
c.4300G>A; p.E1434K; |
oesophagus | carcinoma; adenocarcinoma |
c.542-3C>A; p.?; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.2445A>C; p.K815N; |
stomach | carcinoma; adenocarcinoma |
c.2886C>T; p.N962N; |
stomach | carcinoma; adenocarcinoma |
c.1339C>G; p.Q447E; |
stomach | carcinoma; adenocarcinoma |
c.460G>T; p.D154Y; 9:8518672-8518672 |
lung | carcinoma; small_cell_carcinoma |
c.1452C>T; p.P484P; |
liver | carcinoma |
c.2846G>A; p.G949D; |
liver | carcinoma; hepatocellular_carcinoma |
c.4861C>T; p.P1621S; |
liver | carcinoma |
c.183A>G; p.G61G; |
liver | carcinoma |
c.1868C>T; p.S623F; |
large_intestine; colon | carcinoma |
c.4505A>T; p.K1502M; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.2458A>C; p.T820P; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.3107T>C; p.L1036P; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.3739T>A; p.S1247T; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1488C>A; p.T496T; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.4861C>T; p.P1621S; |
liver | carcinoma |
c.1551G>C; p.G517G; |
liver | carcinoma |
c.866T>C; p.L289P; 9:8511372-8511372 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4241A>G; p.N1414S; |
pancreas | carcinoma; ductal_carcinoma |
c.132C>T; p.I44I; 9:8626777-8626777 |
urinary_tract; bladder | carcinoma |
c.5023C>A; p.L1675I; |
lung | carcinoma; adenocarcinoma |
c.2825C>T; p.P942L; |
lung | carcinoma; adenocarcinoma |
c.5239C>T; p.R1747C; |
lung | carcinoma; adenocarcinoma |
c.2146C>T; p.R716C; |
lung | carcinoma; adenocarcinoma |
c.4339C>A; p.R1447R; |
lung | carcinoma; adenocarcinoma |
c.499G>T; p.D167Y; |
lung | carcinoma; adenocarcinoma |
c.5473G>T; p.G1825C; |
lung | carcinoma; adenocarcinoma |
c.294T>C; p.C98C; |
lung | carcinoma; adenocarcinoma |
c.2529G>T; p.W843C; |
lung | carcinoma; adenocarcinoma |
c.4046_4047insT; p.L1349fs*5; |
lung | carcinoma; adenocarcinoma |
c.5689T>C; p.Y1897H; |
lung | carcinoma; adenocarcinoma |
c.2504A>T; p.Q835L; |
lung | carcinoma; adenocarcinoma |
c.761A>G; p.N254S; |
lung | carcinoma; adenocarcinoma |
c.3896C>A; p.S1299Y; |
lung | carcinoma; adenocarcinoma |
c.4881C>G; p.A1627A; |
lung | carcinoma; adenocarcinoma |
c.1322C>A; p.P441H; |
lung | carcinoma; adenocarcinoma |
c.4346C>G; p.A1449G; |
lung | carcinoma; adenocarcinoma |
c.2314G>T; p.D772Y; |
lung | carcinoma; adenocarcinoma |
c.1349G>C; p.G450A; |
lung | carcinoma; adenocarcinoma |
c.4573C>G; p.P1525A; |
lung | carcinoma; adenocarcinoma |
c.4764G>T; p.M1588I; |
lung | carcinoma; adenocarcinoma |
c.1990G>T; p.G664*; |
lung | carcinoma; adenocarcinoma |
c.2971G>A; p.D991N; |
lung | carcinoma; adenocarcinoma |
c.2948G>T; p.G983V; |
lung | carcinoma; adenocarcinoma |
c.1401G>T; p.M467I; |
lung | carcinoma; adenocarcinoma |
c.2281G>T; p.G761C; |
lung | carcinoma; adenocarcinoma |
c.5390C>A; p.S1797Y; |
lung | carcinoma; adenocarcinoma |
c.787C>G; p.P263A; |
lung | carcinoma; adenocarcinoma |
c.4947G>T; p.K1649N; |
lung | carcinoma; adenocarcinoma |
c.441T>C; p.C147C; |
lung | carcinoma; adenocarcinoma |
c.2926G>T; p.D976Y; |
lung | carcinoma; adenocarcinoma |
c.200A>T; p.Q67L; |
lung | carcinoma; adenocarcinoma |
c.777C>A; p.A259A; |
lung | carcinoma; adenocarcinoma |
c.1532C>A; p.T511N; |
lung | carcinoma; adenocarcinoma |
c.1145G>T; p.G382V; |
lung | carcinoma; adenocarcinoma |
c.4292C>A; p.S1431Y; |
lung | carcinoma; adenocarcinoma |
c.4679C>G; p.T1560S; |
lung | carcinoma; adenocarcinoma |
c.4105C>G; p.Q1369E; |
lung | carcinoma; adenocarcinoma |
c.748G>T; p.G250C; |
lung | carcinoma; adenocarcinoma |
c.3645A>T; p.T1215T; |
lung | carcinoma; adenocarcinoma |
c.924G>T; p.L308L; |
lung | carcinoma; adenocarcinoma |
c.368G>T; p.R123M; |
lung | carcinoma; adenocarcinoma |
c.217G>C; p.E73Q; |
lung | carcinoma; adenocarcinoma |
c.5735C>A; p.T1912K; |
lung | carcinoma; adenocarcinoma |
c.5704G>T; p.E1902*; |
lung | carcinoma; adenocarcinoma |
c.4934A>C; p.E1645A; |
lung | carcinoma; adenocarcinoma |
c.2392C>A; p.L798I; |
lung | carcinoma; adenocarcinoma |
c.5472C>T; p.I1824I; |
lung | carcinoma; adenocarcinoma |
c.2388C>A; p.Y796*; |
breast | carcinoma |
c.1954G>A; p.V652M; |
skin; trunk | malignant_melanoma |
c.1505C>T; p.P502L; |
skin; trunk | malignant_melanoma |
c.477G>A; p.W159*; |
skin; trunk | malignant_melanoma |
c.5171C>T; p.T1724I; |
skin; trunk | malignant_melanoma |
c.1868C>T; p.S623F; |
skin; extremity | malignant_melanoma |
c.83G>A; p.R28Q; 9:8626826-8626826 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.460G>T; p.D154Y; 9:8518672-8518672 |
lung | carcinoma; small_cell_carcinoma |
c.5709C>T; p.Y1903Y; |
pancreas | carcinoma; ductal_carcinoma |
c.317A>C; p.E106A; |
pancreas | carcinoma; ductal_carcinoma |
c.3173A>G; p.K1058R; |
breast | carcinoma |
c.3157C>G; p.L1053V; |
NS | NS |
c.2595G>T; p.M865I; |
prostate | carcinoma |
c.5393G>A; p.R1798Q; 9:8321723-8321723 |
prostate | carcinoma |
c.1109T>G; p.I370S; |
liver | carcinoma |
c.1507C>G; p.L503V; |
liver | carcinoma |
c.943G>A; p.A315T; |
liver | carcinoma |
c.5410C>T; p.Q1804*; |
liver | carcinoma |
c.2147G>T; p.R716L; |
lung | carcinoma; small_cell_carcinoma |
c.3033C>T; p.F1011F; |
lung | carcinoma; small_cell_carcinoma |
c.4103A>T; p.Q1368L; |
lung | carcinoma; small_cell_carcinoma |
c.5504delG; p.G1835fs*21; |
lung | carcinoma; small_cell_carcinoma |
c.537A>C; p.R179R; |
lung | carcinoma; small_cell_carcinoma |
c.4634A>T; p.D1545V; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.962-9C>G; p.?; |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype |
c.4498C>A; p.L1500I; |
prostate | adenoma |
c.5692C>T; p.R1898C; |
prostate | adenoma |
c.1180G>A; p.V394I; |
lung | carcinoma; adenocarcinoma |
c.3232G>C; p.E1078Q; |
lung | carcinoma; adenocarcinoma |
c.3545A>T; p.Y1182F; |
lung | carcinoma; adenocarcinoma |
c.857G>C; p.R286T; |
lung | carcinoma; adenocarcinoma |
c.1292C>A; p.S431*; |
lung | carcinoma; adenocarcinoma |
c.199C>G; p.Q67E; |
lung | carcinoma; adenocarcinoma |
c.1716G>C; p.L572L; |
lung | carcinoma; adenocarcinoma |
c.217G>C; p.E73Q; |
lung | carcinoma; adenocarcinoma |
c.3952C>T; p.P1318S; |
lung | carcinoma; adenocarcinoma |
c.4729A>G; p.K1577E; |
lung | carcinoma; adenocarcinoma |
c.572C>A; p.A191D; |
lung | carcinoma; adenocarcinoma |
c.2169C>A; p.V723V; |
lung | carcinoma; adenocarcinoma |
c.3033C>T; p.F1011F; |
lung | carcinoma; adenocarcinoma |
c.5393G>A; p.R1798Q; 9:8321723-8321723 |
ovary | carcinoma; serous_carcinoma |
c.2096G>A; p.S699N; |
lung | carcinoma; squamous_cell_carcinoma |
c.2631A>G; p.E877E; |
lung | carcinoma; squamous_cell_carcinoma |
c.5704G>C; p.E1902Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.547A>C; p.I183L; |
lung | carcinoma; squamous_cell_carcinoma |
c.2920C>T; p.P974S; |
ovary | carcinoma; serous_carcinoma |
c.3484G>A; p.D1162N; 9:8461015-8461015 |
ovary | carcinoma; serous_carcinoma |
c.3192T>C; p.D1064D; |
ovary | carcinoma; serous_carcinoma |
c.2349+1G>T; p.?; |
ovary | carcinoma; serous_carcinoma |
c.3530G>T; p.R1177L; |
lung | carcinoma; squamous_cell_carcinoma |
c.2349+1G>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.550G>T; p.G184C; |
lung | carcinoma; squamous_cell_carcinoma |
c.385G>T; p.D129Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.4013C>A; p.P1338H; |
lung | carcinoma; squamous_cell_carcinoma |
c.2749G>A; p.V917I; |
lung | carcinoma; adenocarcinoma |
c.3714+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.1092_1093GG>TT; p.E364_E365>D*; |
lung | carcinoma; adenocarcinoma |
c.538_539TC>AA; p.S180K; |
lung | carcinoma; adenocarcinoma |
c.3263G>T; p.R1088L; |
lung | carcinoma; squamous_cell_carcinoma |
c.4640G>C; p.G1547A; |
lung | carcinoma; squamous_cell_carcinoma |
c.5706G>T; p.E1902D; |
ovary | carcinoma; serous_carcinoma |
c.3745C>A; p.P1249T; |
lung | carcinoma; adenocarcinoma |
c.3589G>T; p.D1197Y; |
lung | carcinoma; adenocarcinoma |
c.226G>A; p.D76N; |
lung | carcinoma; adenocarcinoma |
c.3536G>C; p.S1179T; |
lung | carcinoma; adenocarcinoma |
c.3189G>T; p.V1063V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1141G>T; p.A381S; |
lung; left_upper_lobe | carcinoma; adenocarcinoma |
c.5214C>A; p.T1738T; |
lung; left_upper_lobe | carcinoma; adenocarcinoma |
c.3301G>T; p.A1101S; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.5154G>T; p.Q1718H; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.5610A>T; p.V1870V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4855G>T; p.E1619*; |
lung | carcinoma; adenocarcinoma |
c.3481C>A; p.P1161T; |
lung | carcinoma; adenocarcinoma |
c.782G>T; p.G261V; |
lung | carcinoma; adenocarcinoma |
c.521G>T; p.R174L; |
lung | carcinoma; adenocarcinoma |
c.823G>A; p.D275N; |
lung | carcinoma; adenocarcinoma |
c.5148T>A; p.A1716A; |
lung | carcinoma; adenocarcinoma |
c.2237G>T; p.G746V; |
lung | carcinoma; adenocarcinoma |
c.3895T>A; p.S1299T; |
lung | carcinoma; adenocarcinoma |
c.5247_5248GG>AT; p.M1749_G1750>IC; |
lung | carcinoma; adenocarcinoma |
c.5188C>T; p.R1730W; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2774T>A; p.L925H; |
lung | carcinoma; adenocarcinoma |
c.2350-2A>G; p.?; |
lung | carcinoma; adenocarcinoma |
c.5396C>G; p.T1799R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1462T>G; p.Y488D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4913G>C; p.G1638A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2774T>G; p.L925R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1763G>T; p.R588L; |
lung | carcinoma; squamous_cell_carcinoma |
c.5538G>A; p.A1846A; |
lung | carcinoma; squamous_cell_carcinoma |
c.352+1G>A; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.541+6G>A; p.?; |
ovary | carcinoma; serous_carcinoma |
c.3952C>A; p.P1318T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1160C>A; p.S387*; |
lung | carcinoma; adenocarcinoma |
c.2205C>A; p.P735P; |
lung | carcinoma; adenocarcinoma |
c.2628A>G; p.K876K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1277C>A; p.A426E; |
lung | carcinoma; squamous_cell_carcinoma |
c.2969A>T; p.Y990F; |
lung | carcinoma; squamous_cell_carcinoma |
c.369G>T; p.R123S; |
lung | carcinoma; adenocarcinoma |
c.3542G>C; p.R1181P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.830C>A; p.T277K; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4665G>T; p.A1555A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5322G>T; p.M1774I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5562C>T; p.F1854F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2411C>A; p.T804K; |
lung | carcinoma; adenocarcinoma |
c.5254G>T; p.E1752*; |
lung | carcinoma; adenocarcinoma |
c.1629C>T; p.T543T; |
lung | carcinoma; adenocarcinoma |
c.299C>A; p.A100D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4594C>G; p.L1532V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3112T>A; p.W1038R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1299C>T; p.T433T; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.4300G>T; p.E1434*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4030G>A; p.D1344N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1423C>G; p.Q475E; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.4921G>T; p.V1641F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2633A>T; p.D878V; |
lung | carcinoma; adenocarcinoma |
c.947A>G; p.Q316R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.535C>A; p.R179R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1548A>G; p.P516P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5536G>A; p.A1846T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.900C>A; p.Y300*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1498G>T; p.D500Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3477G>A; p.E1159E; |
breast | carcinoma |
c.1371G>A; p.M457I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2215A>C; p.K739Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1752T>C; p.R584R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3886G>C; p.E1296Q; |
breast | carcinoma |
c.646C>G; p.R216G; |
breast | carcinoma |
c.3454G>A; p.G1152R; |
breast | carcinoma |
c.3770C>T; p.P1257L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.749G>A; p.G250D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4292C>A; p.S1431Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1826C>T; p.P609L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1809A>C; p.R603S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4159G>A; p.A1387T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2431C>T; p.R811C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.203G>T; p.R68I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3157C>A; p.L1053I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.50G>A; p.R17H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3157C>A; p.L1053I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4692C>T; p.I1564I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3268A>C; p.N1090H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4623T>C; p.C1541C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1675G>A; p.E559K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.53C>T; p.T18M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4455T>C; p.L1485L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1206G>A; p.G402G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3485A>G; p.D1162G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3415G>T; p.G1139C; |
large_intestine; rectum | NS |
c.1355G>T; p.R452I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1720G>T; p.G574*; |
breast | carcinoma |
c.5588G>T; p.R1863I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4161G>A; p.A1387A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.343G>A; p.V115I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5692C>T; p.R1898C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5648G>A; p.R1883Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1628C>T; p.T543I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.425C>T; p.T142M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.335G>A; p.R112K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5005A>G; p.N1669D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4775G>T; p.R1592M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5473G>C; p.G1825R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3073C>G; p.H1025D; |
breast | carcinoma |
c.3719T>G; p.M1240R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.535C>T; p.R179*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3850G>C; p.V1284L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1292C>T; p.S431L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1682G>A; p.R561Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1348G>T; p.G450*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5393G>T; p.R1798L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4938C>T; p.L1646L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4607G>A; p.R1536H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.865C>A; p.L289I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3531C>T; p.R1177R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1354A>G; p.R452G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1292C>T; p.S431L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.694C>T; p.R232C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3770C>T; p.P1257L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2869C>A; p.L957I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1517A>G; p.D506G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.698G>A; p.R233H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5538G>A; p.A1846A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.422G>A; p.R141H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5459T>G; p.F1820C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2970C>T; p.Y990Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4817A>C; p.H1606P; |
breast | carcinoma |
c.408G>A; p.V136V; |
breast | carcinoma |
c.744G>A; p.M248I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3744C>T; p.D1248D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1025C>T; p.T342M; |
breast | carcinoma |
c.3609C>A; p.F1203L; |
breast | carcinoma |
c.3817C>T; p.P1273S; |
urinary_tract; bladder | carcinoma |
c.3578C>T; p.A1193V; |
urinary_tract; bladder | carcinoma |
c.3253C>T; p.L1085L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1536G>T; p.Q512H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3325C>T; p.R1109C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3553G>T; p.E1185*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3262C>T; p.R1088C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4763T>C; p.M1588T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.845T>C; p.M282T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.364C>A; p.P122T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5692C>T; p.R1898C; |
breast | carcinoma |
c.3770C>T; p.P1257L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4486C>T; p.R1496*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3485A>G; p.D1162G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1752T>C; p.R584R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.82C>T; p.R28*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.130A>G; p.I44V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1204G>A; p.G402R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1010C>T; p.T337I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.84A>G; p.R28R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.866T>C; p.L289P; 9:8511372-8511372 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.83G>T; p.R28L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.866T>C; p.L289P; 9:8511372-8511372 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4773G>A; p.Q1591Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5216T>C; p.I1739T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4575A>G; p.P1525P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1130G>A; p.R377H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1809A>G; p.R603R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5402G>T; p.R1801M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.769T>C; p.C257R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3106C>A; p.L1036M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4336C>A; p.Q1446K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3108G>A; p.L1036L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4187G>A; p.R1396Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.747A>T; p.P249P; |
urinary_tract; bladder | carcinoma |
c.1191T>A; p.N397K; |
urinary_tract; bladder | carcinoma |
c.5107A>G; p.S1703G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1750C>A; p.R584S; 9:8494333-8494333 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3369G>A; p.M1123I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5048C>T; p.S1683F; |
breast | carcinoma |
c.1272C>T; p.V424V; |
breast | carcinoma |
c.4738G>C; p.D1580H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1705T>C; p.S569P; |
breast | carcinoma |
c.3049G>C; p.D1017H; |
prostate | carcinoma; adenocarcinoma |
c.3967C>T; p.R1323C; |
prostate | carcinoma; adenocarcinoma |
c.5109T>C; p.S1703S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1752T>C; p.R584R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5455G>A; p.G1819R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1752T>C; p.R584R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4637C>T; p.A1546V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3926A>G; p.E1309G; |
prostate | carcinoma |
c.3975C>T; p.N1325N; |
prostate | carcinoma |
c.1121C>T; p.A374V; |
prostate | carcinoma |
c.5527C>T; p.H1843Y; |
skin | malignant_melanoma |
c.5356G>A; p.E1786K; |
skin | malignant_melanoma |
c.776C>T; p.A259V; |
skin | malignant_melanoma |
c.1037G>A; p.G346E; |
skin | malignant_melanoma |
c.2534C>T; p.P845L; |
skin | malignant_melanoma |
c.2912T>C; p.L971P; |
skin | malignant_melanoma |
c.3073C>T; p.H1025Y; |
skin | malignant_melanoma |
c.1261_1262CC>TT; p.P421L; |
skin | malignant_melanoma |
c.5038C>T; p.P1680S; |
skin | malignant_melanoma |
c.4333G>A; p.E1445K; |
skin | malignant_melanoma |
c.313G>A; p.G105R; |
skin | malignant_melanoma |
c.608G>A; p.G203E; |
skin; scalp | malignant_melanoma |
c.2326G>A; p.E776K; |
skin | malignant_melanoma |
c.145G>A; p.G49R; |
skin | malignant_melanoma |
c.2904G>A; p.M968I; |
skin | malignant_melanoma |
c.2263G>A; p.E755K; |
skin | malignant_melanoma |
c.1996_1997CC>TT; p.P666F; |
skin | malignant_melanoma |
c.1835C>T; p.P612L; |
skin | malignant_melanoma |
c.1261C>T; p.P421S; |
skin | malignant_melanoma |
c.5120G>A; p.G1707E; |
skin | malignant_melanoma |
c.4619C>T; p.T1540I; |
skin | malignant_melanoma |
c.1093G>A; p.E365K; |
skin; trunk | malignant_melanoma |
c.1082A>C; p.K361T; |
skin | malignant_melanoma |
c.5482C>T; p.H1828Y; |
skin | malignant_melanoma |
c.5158C>T; p.P1720S; |
skin | malignant_melanoma |
c.364C>T; p.P122S; |
skin; neck | malignant_melanoma |
c.3493G>A; p.E1165K; |
skin | malignant_melanoma |
c.392G>A; p.G131D; |
skin | malignant_melanoma |
c.5584G>A; p.E1862K; |
skin | malignant_melanoma |
c.4333G>A; p.E1445K; |
skin | malignant_melanoma |
c.5086G>A; p.G1696R; |
skin | malignant_melanoma |
c.364C>T; p.P122S; |
skin | malignant_melanoma |
c.3953C>T; p.P1318L; |
skin; mucosal | malignant_melanoma |
c.4447A>G; p.T1483A; |
skin; mucosal | malignant_melanoma |
c.4537C>A; p.Q1513K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4304C>T; p.T1435I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma |