| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4035 |
Name | LRP1 |
Synonymous | A2MR|APOER|APR|CD91|IGFBP3R|LRP|TGFBR5;low density lipoprotein receptor-related protein 1;LRP1;low density lipoprotein receptor-related protein 1 |
Definition | LRP-1|TbetaR-V/LRP-1/IGFBP-3 receptor|alpha-2-macroglobulin receptor|apolipoprotein E receptor|prolow-density lipoprotein receptor-related protein 1|type V tgf-beta receptor |
Position | 12q13-q14 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for LRP1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
LRP1_F3033F; chr12; 57591104 |
SUB; SILENT; C; C/T; SOMATIC | MB; VALID; WGS |
LRP1_R1956H; chr12; 57577630 |
SUB; MISSENSE; G; G/A; SOMATIC | T-ALL; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.3841C>T; p.R1281C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3841C>T; p.R1281C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.13525A>C; p.T4509P; |
liver | carcinoma; hepatocellular_carcinoma |
c.4261G>C; p.A1421P; |
liver | carcinoma; hepatocellular_carcinoma |
c.2941C>G; p.Q981E; |
lung | carcinoma; adenocarcinoma |
c.11197C>T; p.P3733S; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.2856C>T; p.S952S; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1210A>C; p.I404L; |
breast | carcinoma; HER-positive_carcinoma |
c.10236C>A; p.V3412V; |
lung | carcinoma; squamous_cell_carcinoma |
c.6795C>T; p.I2265I; |
lung | carcinoma; squamous_cell_carcinoma |
c.485A>C; p.Q162P; |
thyroid | carcinoma; medullary_carcinoma |
c.5921G>A; p.W1974*; |
NS | malignant_melanoma |
c.5921G>A; p.W1974*; |
NS | malignant_melanoma |
c.2909C>T; p.S970L; |
skin; nipple | malignant_melanoma |
c.12527G>A; p.R4176Q; |
pancreas | carcinoid-endocrine_tumour; islet_cell |
c.1525G>A; p.G509S; |
NS | malignant_melanoma |
c.11779C>A; p.R3927S; |
NS | malignant_melanoma |
c.1525G>A; p.G509S; |
NS | malignant_melanoma |
c.7159C>T; p.R2387C; |
NS | malignant_melanoma |
c.779G>A; p.R260H; |
NS | malignant_melanoma |
c.7159C>T; p.R2387C; |
NS | malignant_melanoma |
c.3824_3825insC; p.R1276fs*3; |
NS | malignant_melanoma |
c.12084G>A; p.T4028T; |
pancreas | carcinoma |
c.3708G>T; p.K1236N; |
stomach | carcinoma; intestinal_adenocarcinoma |
c.8936C>T; p.T2979M; |
ovary | other; neoplasm |
c.9038C>T; p.P3013L; |
pancreas | carcinoma; acinar_carcinoma |
c.6377A>G; p.D2126G; |
pancreas | carcinoma; acinar_carcinoma |
c.4096G>A; p.D1366N; |
pancreas | carcinoma |
c.12145G>A; p.G4049S; |
pancreas | carcinoma; acinar_carcinoma |
c.6051G>A; p.P2017P; |
liver | carcinoma |
c.4356C>T; p.D1452D; 12:55857636-55857636 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.13315G>A; p.G4439R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.11140C>T; p.R3714C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1035C>T; p.I345I; 12:55834559-55834559 |
skin | malignant_melanoma |
c.11279G>A; p.R3760H; 12:55885243-55885243 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11119C>T; p.R3707C; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.7838G>A; p.R2613Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.8141C>T; p.T2714M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.5668G>A; p.G1890S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4957G>A; p.V1653I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.9854G>A; p.R3285H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.10665C>T; p.C3555C; |
oesophagus | carcinoma; adenocarcinoma |
c.1969C>T; p.P657S; |
oesophagus | carcinoma; adenocarcinoma |
c.7517G>A; p.R2506Q; |
oesophagus | carcinoma; adenocarcinoma |
c.7759G>A; p.G2587R; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1267C>G; p.L423V; |
oesophagus | carcinoma; adenocarcinoma |
c.2134C>T; p.R712C; |
oesophagus | carcinoma; adenocarcinoma |
c.13436G>A; p.G4479E; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.8002G>T; p.A2668S; |
oesophagus | carcinoma; adenocarcinoma |
c.7349G>A; p.G2450D; |
oesophagus | carcinoma; adenocarcinoma |
c.12986G>A; p.R4329H; |
oesophagus | carcinoma; adenocarcinoma |
c.1909C>G; p.Q637E; |
oesophagus | carcinoma; adenocarcinoma |
c.4300G>A; p.G1434S; |
oesophagus | carcinoma; adenocarcinoma |
c.4984G>A; p.G1662R; |
oesophagus | carcinoma; adenocarcinoma |
c.6103C>T; p.R2035W; |
oesophagus | carcinoma; adenocarcinoma |
c.10678G>A; p.D3560N; |
oesophagus | carcinoma; adenocarcinoma |
c.6518G>A; p.R2173Q; |
oesophagus | carcinoma; adenocarcinoma |
c.3943G>A; p.D1315N; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.11534A>G; p.H3845R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2995+6A>T; p.?; |
stomach | carcinoma; adenocarcinoma |
c.1507A>C; p.T503P; |
liver | carcinoma |
c.8482C>T; p.R2828C; |
liver | carcinoma |
c.5696A>G; p.E1899G; |
liver | carcinoma |
c.449-8C>A; p.?; |
liver | carcinoma; hepatocellular_carcinoma |
c.7984C>G; p.R2662G; |
liver | carcinoma |
c.5751A>C; p.P1917P; |
liver | carcinoma |
c.12488G>A; p.S4163N; |
liver | carcinoma |
c.3485_3486insC; p.D1163fs*1; |
large_intestine; colon | carcinoma |
c.1588T>C; p.Y530H; |
large_intestine; colon | carcinoma |
c.3648C>G; p.P1216P; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.2605G>A; p.E869K; 12:55845929-55845929 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12084G>A; p.T4028T; |
pancreas | carcinoma; ductal_carcinoma |
c.12605T>C; p.L4202P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.12613T>C; p.F4205L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.5973C>T; p.V1991V; |
skin; leg | malignant_melanoma; superficial_spreading |
c.8566C>T; p.P2856S; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.8484C>T; p.R2828R; |
skin; leg | malignant_melanoma |
c.8484C>T; p.R2828R; |
skin; leg | malignant_melanoma |
c.10512G>A; p.S3504S; |
lung | carcinoma; adenocarcinoma |
c.6617G>A; p.R2206H; |
lung | carcinoma; adenocarcinoma |
c.12885A>T; p.L4295L; |
lung | carcinoma; adenocarcinoma |
c.4935C>T; p.N1645N; |
lung | carcinoma; adenocarcinoma |
c.6796C>T; p.Q2266*; |
lung | carcinoma; adenocarcinoma |
c.5600C>T; p.T1867M; |
lung | carcinoma; adenocarcinoma |
c.9515G>C; p.R3172P; |
lung | carcinoma; adenocarcinoma |
c.844G>A; p.V282M; |
lung | carcinoma; adenocarcinoma |
c.6490G>C; p.G2164R; |
lung | carcinoma; adenocarcinoma |
c.3372G>T; p.V1124V; |
lung | carcinoma; adenocarcinoma |
c.636G>T; p.T212T; |
lung | carcinoma; adenocarcinoma |
c.576C>T; p.N192N; |
lung | carcinoma; adenocarcinoma |
c.11143C>A; p.Q3715K; |
lung | carcinoma; adenocarcinoma |
c.10639C>T; p.R3547C; |
lung | carcinoma; adenocarcinoma |
c.11020G>A; p.D3674N; |
lung | carcinoma; adenocarcinoma |
c.9368G>T; p.R3123L; |
lung | carcinoma; adenocarcinoma |
c.4150G>A; p.G1384S; |
lung | carcinoma; adenocarcinoma |
c.13037G>A; p.R4346H; |
lung | carcinoma; adenocarcinoma |
c.1707G>T; p.E569D; |
lung | carcinoma; adenocarcinoma |
c.3527C>T; p.S1176L; |
lung | carcinoma; adenocarcinoma |
c.11036G>T; p.C3679F; |
lung | carcinoma; adenocarcinoma |
c.4551G>A; p.R1517R; |
lung | carcinoma; adenocarcinoma |
c.12755-1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.6760C>T; p.R2254C; |
lung | carcinoma; adenocarcinoma |
c.10080G>T; p.G3360G; |
lung | carcinoma; adenocarcinoma |
c.12575_12576insC; p.D4193fs*9; |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; classic |
c.10924A>T; p.S3642C; |
breast | carcinoma |
c.10926C>G; p.S3642R; |
breast | carcinoma |
c.455A>T; p.D152V; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.13597C>T; p.R4533W; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.8109C>G; p.C2703W; |
autonomic_ganglia | neuroblastoma |
c.6397C>G; p.P2133A; |
bone | osteosarcoma |
c.167G>T; p.G56V; |
prostate | carcinoma |
c.9357C>A; p.C3119*; |
prostate | carcinoma |
c.4888T>C; p.Y1630H; |
pancreas | carcinoma; ductal_carcinoma |
c.5220C>T; p.G1740G; |
pancreas | carcinoma; ductal_carcinoma |
c.11294A>G; p.D3765G; |
pancreas | carcinoma; ductal_carcinoma |
c.11212A>T; p.T3738S; |
NS | NS |
c.6094C>T; p.R2032C; |
breast | carcinoma; ductal_carcinoma |
c.5677C>G; p.L1893V; |
breast | carcinoma |
c.6765C>G; p.I2255M; |
breast | carcinoma |
c.6625C>G; p.L2209V; |
breast | carcinoma |
c.5757C>T; p.S1919S; |
bone | chondrosarcoma |
c.5201G>A; p.R1734H; |
prostate | carcinoma |
c.11279G>A; p.R3760H; 12:55885243-55885243 |
prostate | carcinoma |
c.4425C>T; p.H1475H; |
prostate | carcinoma |
c.2377C>T; p.R793*; |
pancreas | NS |
c.1022A>T; p.D341V; |
liver | carcinoma |
c.1134C>T; p.S378S; |
liver | carcinoma |
c.10360G>A; p.A3454T; |
lung | carcinoma; small_cell_carcinoma |
c.7546A>C; p.T2516P; |
lung | carcinoma; small_cell_carcinoma |
c.4801C>T; p.P1601S; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.3519C>T; p.G1173G; |
large_intestine; colon | adenoma |
c.4213_4216delGACT; p.D1405fs*13; |
central_nervous_system; spinal_cord | glioma; ependymoma |
c.9099C>T; p.F3033F; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.5867G>A; p.R1956H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.6168C>A; p.G2056G; |
prostate | adenoma |
c.428C>T; p.A143V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.11292C>T; p.F3764F; |
endometrium | carcinoma; serous_carcinoma |
c.3214G>A; p.D1072N; |
endometrium | carcinoma; serous_carcinoma |
c.13259-4C>G; p.?; |
prostate | carcinoma |
c.4723A>T; p.N1575Y; |
lung | carcinoma; adenocarcinoma |
c.10335G>A; p.E3445E; |
lung | carcinoma; adenocarcinoma |
c.8091T>C; p.P2697P; |
lung | carcinoma; adenocarcinoma |
c.2526C>T; p.C842C; |
lung | carcinoma; adenocarcinoma |
c.12243G>T; p.V4081V; 12:55889230-55889230 |
ovary | carcinoma; serous_carcinoma |
c.12947G>T; p.G4316V; |
ovary | carcinoma; serous_carcinoma |
c.4267C>T; p.R1423C; 12:55857547-55857547 |
ovary | carcinoma; serous_carcinoma |
c.4105G>A; p.E1369K; 12:55857204-55857204 |
ovary | carcinoma; serous_carcinoma |
c.6144C>G; p.N2048K; 12:55864460-55864460 |
ovary | carcinoma; serous_carcinoma |
c.9711G>A; p.L3237L; |
lung | carcinoma; squamous_cell_carcinoma |
c.7868G>T; p.R2623L; |
lung | carcinoma; squamous_cell_carcinoma |
c.5173A>T; p.S1725C; |
lung | carcinoma; squamous_cell_carcinoma |
c.3073G>T; p.G1025W; |
lung | carcinoma; squamous_cell_carcinoma |
c.8278G>T; p.G2760W; |
lung | carcinoma; squamous_cell_carcinoma |
c.4162C>T; p.H1388Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.4887G>A; p.V1629V; |
lung | carcinoma; squamous_cell_carcinoma |
c.3057G>T; p.Q1019H; |
lung | carcinoma; squamous_cell_carcinoma |
c.8264G>A; p.G2755D; |
lung | carcinoma; squamous_cell_carcinoma |
c.11694G>C; p.E3898D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1722C>A; p.Y574*; 12:55838612-55838612 |
ovary | carcinoma; serous_carcinoma |
c.12575C>T; p.P4192L; |
ovary | carcinoma; serous_carcinoma |
c.7897G>A; p.A2633T; 12:55874041-55874041 |
ovary | carcinoma; serous_carcinoma |
c.3326A>G; p.K1109R; 12:55853380-55853380 |
ovary | carcinoma; serous_carcinoma |
c.11045A>G; p.N3682S; |
ovary | carcinoma; serous_carcinoma |
c.7044G>A; p.W2348*; |
ovary | carcinoma; serous_carcinoma |
c.6403C>T; p.R2135*; |
ovary | carcinoma; serous_carcinoma |
c.11839C>T; p.R3947W; |
ovary | carcinoma; serous_carcinoma |
c.13625C>T; p.P4542L; |
lung | carcinoma; adenocarcinoma |
c.4736A>G; p.Y1579C; |
lung | carcinoma; adenocarcinoma |
c.9831C>T; p.D3277D; |
lung | carcinoma; squamous_cell_carcinoma |
c.13132G>T; p.V4378F; |
lung | carcinoma; squamous_cell_carcinoma |
c.3464A>T; p.N1155I; |
lung | carcinoma; squamous_cell_carcinoma |
c.3468C>T; p.T1156T; |
lung | carcinoma; adenocarcinoma |
c.8474_8475GC>TG; p.C2825L; |
lung | carcinoma; adenocarcinoma |
c.12477C>G; p.L4159L; |
lung | carcinoma; adenocarcinoma |
c.7757A>G; p.N2586S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.5125G>T; p.V1709F; |
lung | carcinoma; adenocarcinoma |
c.889G>T; p.V297L; |
lung | carcinoma; adenocarcinoma |
c.3601G>T; p.G1201C; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.11538C>T; p.L3846L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.11538C>T; p.L3846L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.10444G>A; p.G3482S; |
lung | carcinoma; adenocarcinoma |
c.802G>A; p.V268M; |
lung | carcinoma; adenocarcinoma |
c.11542A>T; p.S3848C; |
lung | carcinoma; squamous_cell_carcinoma |
c.529G>A; p.E177K; |
lung | carcinoma; squamous_cell_carcinoma |
c.3569G>A; p.G1190D; |
lung | carcinoma; adenocarcinoma |
c.8533G>C; p.D2845H; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2667C>T; p.L889L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.9040C>T; p.R3014C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5210T>G; p.L1737R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5027G>A; p.S1676N; |
lung | carcinoma; squamous_cell_carcinoma |
c.9622G>A; p.A3208T; |
lung | carcinoma; squamous_cell_carcinoma |
c.10317C>T; p.C3439C; |
ovary | carcinoma; serous_carcinoma |
c.8399G>T; p.C2800F; |
ovary | carcinoma; serous_carcinoma |
c.3960G>T; p.K1320N; |
lung | carcinoma; adenocarcinoma |
c.10492G>T; p.E3498*; |
lung | carcinoma; squamous_cell_carcinoma |
c.10212C>T; p.D3404D; |
lung | carcinoma; squamous_cell_carcinoma |
c.8103C>T; p.F2701F; |
lung | carcinoma; squamous_cell_carcinoma |
c.13339C>T; p.R4447*; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.13060G>A; p.V4354I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8103C>T; p.F2701F; |
lung | carcinoma; adenocarcinoma |
c.3693C>G; p.L1231L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5140G>T; p.G1714W; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2858_2859GG>TT; p.W953F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7775G>T; p.G2592V; |
lung | carcinoma; adenocarcinoma |
c.4564C>T; p.P1522S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2667C>G; p.L889L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4904G>A; p.R1635Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8327C>T; p.P2776L; |
breast | carcinoma |
c.3487G>A; p.D1163N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8381G>A; p.C2794Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9824C>A; p.P3275H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11428C>T; p.R3810C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.350G>A; p.R117H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8292C>T; p.D2764D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2482G>A; p.A828T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2684_2685insC; p.S897fs*23; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5451C>T; p.G1817G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5326C>T; p.L1776L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12537C>T; p.N4179N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2147T>C; p.V716A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10201G>T; p.D3401Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6107C>A; p.S2036Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12567_12568insC; p.D4193fs*9; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4899C>T; p.D1633D; |
breast | carcinoma |
c.4843G>A; p.D1615N; |
breast | carcinoma |
c.5119C>G; p.L1707V; |
breast | carcinoma |
c.10651G>A; p.G3551S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4039G>A; p.E1347K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.145G>T; p.G49C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4462delG; p.E1490fs*80; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4681G>A; p.V1561M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4132C>T; p.R1378W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12818C>T; p.A4273V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9409A>G; p.T3137A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1428T>C; p.H476H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4462delG; p.E1490fs*80; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.12288C>T; p.D4096D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9433C>T; p.R3145C; |
large_intestine; colon | NS |
c.10419C>T; p.C3473C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5511C>T; p.D1837D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2702A>G; p.K901R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2706C>G; p.C902W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10954C>T; p.R3652W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.558C>A; p.R186R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3414G>T; p.E1138D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3691C>A; p.L1231I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6682G>A; p.E2228K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9003C>A; p.G3001G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7648T>C; p.C2550R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11968G>A; p.E3990K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5874C>T; p.D1958D; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.12567_12568insC; p.D4193fs*9; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1701C>T; p.H567H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10401delC; p.R3469fs*24; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13258C>T; p.H4420Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9644T>G; p.F3215C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1083C>T; p.L361L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7186G>A; p.A2396T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7448G>A; p.R2483Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4526G>A; p.G1509D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5996G>A; p.R1999H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.10458C>T; p.P3486P; |
breast | carcinoma |
c.9823C>T; p.P3275S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10172T>C; p.F3391S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1344C>T; p.T448T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11489G>A; p.R3830H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4005C>T; p.F1335F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6126G>T; p.E2042D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6715C>A; p.L2239M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7255C>T; p.P2419S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9064A>G; p.K3022E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10766C>T; p.A3589V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12889G>A; p.G4297S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.166G>A; p.G56R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.723C>T; p.T241T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.779G>A; p.R260H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3076C>T; p.R1026C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4436C>T; p.S1479L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5284G>A; p.G1762R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7694G>A; p.R2565H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8279G>A; p.G2760E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13373G>A; p.R4458Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13582C>T; p.R4528*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13434C>T; p.G4478G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8371C>T; p.R2791C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7079G>A; p.R2360Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11908G>A; p.G3970R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.900C>T; p.I300I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7163C>T; p.A2388V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4935C>T; p.N1645N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4675C>T; p.R1559W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2073C>A; p.I691I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5052C>A; p.I1684I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.638A>G; p.Y213C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6448C>T; p.R2150W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8910C>T; p.G2970G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5177T>C; p.M1726T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6652C>T; p.R2218C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7026C>T; p.C2342C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.10401delC; p.R3469fs*24; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.13597C>T; p.R4533W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4269C>A; p.R1423R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6570C>T; p.D2190D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8142G>A; p.T2714T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9550G>A; p.V3184M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11495G>A; p.G3832D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2156T>C; p.F719S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.12984C>T; p.C4328C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3172C>A; p.P1058T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.137G>A; p.R46Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2373G>T; p.E791D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4615C>T; p.P1539S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6524G>A; p.R2175H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10341C>T; p.D3447D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3447G>A; p.S1149S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9135C>T; p.D3045D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11034C>A; p.D3678E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11394C>T; p.C3798C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11798C>T; p.A3933V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4863C>G; p.D1621E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6755C>A; p.P2252H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8960G>A; p.S2987N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12986G>A; p.R4329H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7448G>A; p.R2483Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7641C>T; p.V2547V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3357C>A; p.I1119I; |
breast | carcinoma |
c.9533C>T; p.S3178F; |
breast | carcinoma |
c.8746C>T; p.R2916C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1134C>T; p.S378S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10511C>T; p.S3504L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7254G>A; p.E2418E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11896G>A; p.D3966N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3523G>A; p.G1175S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11567C>T; p.T3856M; |
breast | carcinoma |
c.1386C>T; p.L462L; |
cervix | carcinoma; squamous_cell_carcinoma |
c.425delA; p.Q142fs*54; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7896C>T; p.D2632D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10688A>G; p.D3563G; |
urinary_tract; bladder | carcinoma |
c.8066C>A; p.P2689Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.11799G>A; p.A3933A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8620C>A; p.R2874S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1087G>A; p.D363N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3291T>C; p.C1097C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10904A>G; p.D3635G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11548G>A; p.A3850T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2378G>A; p.R793Q; |
urinary_tract; bladder | carcinoma |
c.12435C>T; p.P4145P; |
urinary_tract; bladder | carcinoma |
c.142G>A; p.D48N; |
breast | carcinoma |
c.9601G>T; p.E3201*; |
breast | carcinoma |
c.862G>A; p.D288N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3172C>A; p.P1058T; |
prostate | carcinoma; adenocarcinoma |
c.3172C>A; p.P1058T; |
prostate | carcinoma; adenocarcinoma |
c.7721G>A; p.S2574N; |
prostate | carcinoma; adenocarcinoma |
c.7989C>A; p.T2663T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1221C>T; p.G407G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2605G>A; p.E869K; 12:55845929-55845929 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1340G>A; p.S447N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8175G>T; p.E2725D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.11105G>A; p.R3702H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1242C>T; p.Y414Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8009G>A; p.S2670N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11707G>A; p.D3903N; |
urinary_tract; bladder | carcinoma |
c.9210G>A; p.M3070I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.9009T>A; p.Y3003*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.589C>T; p.R197W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1565C>T; p.P522L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3076C>T; p.R1026C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6653G>A; p.R2218H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7694G>A; p.R2565H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10065C>T; p.T3355T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13285C>T; p.L4429L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9905G>A; p.S3302N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3171G>A; p.R1057R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4766G>T; p.R1589L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10315T>C; p.C3439R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1915C>T; p.R639C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.31C>T; p.P11S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2327C>A; p.P776H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10573G>T; p.D3525Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13315G>A; p.G4439R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10660C>T; p.Q3554*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10971C>T; p.D3657D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11194+1G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11990C>T; p.S3997L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11292C>T; p.F3764F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2175G>A; p.T725T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1035C>T; p.I345I; 12:55834559-55834559 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7816G>A; p.G2606S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13112C>T; p.A4371V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.883T>C; p.Y295H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10273C>T; p.R3425C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3648C>G; p.P1216P; |
breast | carcinoma |
c.7624C>G; p.L2542V; |
breast | carcinoma |
c.7369C>T; p.R2457C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.12288C>A; p.D4096E; |
urinary_tract; bladder | carcinoma |
c.10573G>C; p.D3525H; |
urinary_tract; bladder | carcinoma |
c.10772G>T; p.R3591L; |
urinary_tract; bladder | carcinoma |
c.5556C>T; p.V1852V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6208G>A; p.D2070N; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1202G>A; p.R401H; |
breast | carcinoma |
c.12154G>A; p.V4052M; |
breast | carcinoma |
c.1390A>G; p.I464V; |
urinary_tract; bladder | carcinoma |
c.5419G>A; p.E1807K; |
breast | carcinoma |
c.2796A>G; p.S932S; |
cervix | carcinoma; squamous_cell_carcinoma |
c.4688G>T; p.C1563F; |
urinary_tract; bladder | carcinoma |
c.11025C>T; p.G3675G; |
urinary_tract; bladder | carcinoma |
c.6745C>T; p.P2249S; |
urinary_tract; bladder | carcinoma |
c.1034T>C; p.I345T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1012delT; p.F339fs*71; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1033A>G; p.I345V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6655A>G; p.N2219D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.12546C>T; p.C4182C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1197G>T; p.K399N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6031C>T; p.R2011W; |
prostate | carcinoma |
c.289G>T; p.D97Y; |
prostate | carcinoma |
c.4114_4115insG; p.K1372fs*14; |
skin | malignant_melanoma |
c.1688C>T; p.A563V; |
skin | malignant_melanoma |
c.3901G>A; p.A1301T; |
skin | malignant_melanoma |
c.2780C>T; p.S927F; |
skin | malignant_melanoma |
c.8069G>A; p.G2690D; |
skin | malignant_melanoma |
c.7739C>T; p.S2580F; |
skin | malignant_melanoma |
c.10058G>C; p.C3353S; |
skin; mucosal | malignant_melanoma |
c.7135C>T; p.P2379S; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.3492G>T; p.K1164N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.226G>A; p.E76K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4385G>A; p.R1462H; |
stomach | adenocarcinoma |
c.5888G>A; p.G1963D; |
stomach | adenocarcinoma |
c.6310_6317delTTTGAGGA; p.E2105fs*5; |
stomach | adenocarcinoma |