| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 250 |
Name | ALPP |
Synonymous | alkaline phosphatase, placental;ALPP;alkaline phosphatase, placental |
Definition | alkaline phosphatase Regan isozyme|alkaline phosphatase, placental type|alkaline phosphomonoesterase|glycerophosphatase|placental alkaline phosphatase 1 |
Position | 2q37 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.537C>T; p.A179A; 2:232379816-232379816 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.10C>T; p.P4S; 2:232378812-232378812 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.10C>T; p.P4S; 2:232378812-232378812 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1590G>A; p.E530E; 2:232381777-232381777 |
skin | malignant_melanoma | Substitution - coding silent |
c.804T>C; p.Y268Y; 2:232380431-232380431 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.814C>T; p.R272C; 2:232380441-232380441 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.814C>T; p.R272C; 2:232380441-232380441 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1303G>A; p.E435K; 2:232381361-232381361 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1489G>A; p.D497N; 2:232381676-232381676 |
skin | malignant_melanoma | Substitution - Missense |
c.782C>T; p.A261V; 2:232380310-232380310 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.290C>T; p.P97L; 2:232379296-232379296 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782C>T; p.A261V; 2:232380310-232380310 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.440G>A; p.R147H; 2:232379643-232379643 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1350C>G; p.D450E; 2:232381537-232381537 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.586G>A; p.V196M; 2:232379865-232379865 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.191A>C; p.D64A; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.191A>C; p.D64A; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.191A>C; p.D64A; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.191A>C; p.D64A; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.191A>C; p.D64A; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1351G>A; p.E451K; 2:232381538-232381538 |
skin | malignant_melanoma | Substitution - Missense |
c.191A>C; p.D64A; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.191A>C; p.D64A; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.191A>C; p.D64A; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.191A>C; p.D64A; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.191A>C; p.D64A; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.191A>C; p.D64A; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.826A>C; p.M276L; 2:232380453-232380453 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.369C>T; p.C123C; 2:232379572-232379572 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1389G>A; p.A463A; 2:232381576-232381576 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.564C>T; p.R188R; 2:232379843-232379843 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1368C>T; p.G456G; 2:232381555-232381555 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.43C>A; p.L15M; 2:232378845-232378845 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1245C>T; p.Y415Y; 2:232381303-232381303 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.77-7T>C; p.?; 2:232378964-232378964 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1245C>T; p.Y415Y; 2:232381303-232381303 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1220G>A; p.R407K; 2:232381278-232381278 |
skin | malignant_melanoma | Substitution - Missense |
c.265A>C; p.I89L; 2:232379271-232379271 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.850G>T; p.V284L; 2:232380477-232380477 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.861C>A; p.L287L; 2:232380488-232380488 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.861C>A; p.L287L; 2:232380488-232380488 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1269C>T; p.L423L; 2:232381327-232381327 |
ovary | other; neoplasm | Substitution - coding silent |
c.209C>T; p.T70M; 2:232379215-232379215 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.209C>T; p.T70M; 2:232379215-232379215 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.747G>C; p.R249S; 2:232380275-232380275 |
breast | carcinoma | Substitution - Missense |
c.329A>T; p.H110L; 2:232379532-232379532 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1482C>T; p.T494T; 2:232381669-232381669 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.291A>G; p.P97P; 2:232379297-232379297 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.737G>A; p.G246D; 2:232380265-232380265 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1275C>T; p.D425D; 2:232381333-232381333 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.609delG; p.C205fs*16; 2:232379888-232379888 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1276G>T; p.G426C; 2:232381334-232381334 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.265A>T; p.I89L; 2:232379271-232379271 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.265A>T; p.I89L; 2:232379271-232379271 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.865+5T>G; p.?; 2:232380497-232380497 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1530G>A; p.P510P; 2:232381717-232381717 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1589A>G; p.E530G; 2:232381776-232381776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1273G>T; p.D425Y; 2:232381331-232381331 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.498A>C; p.G166G; 2:232379777-232379777 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.664C>T; p.L222L; 2:232380192-232380192 |
skin | malignant_melanoma | Substitution - coding silent |
c.547G>A; p.A183T; 2:232379826-232379826 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.496G>A; p.G166R; 2:232379775-232379775 |
skin | malignant_melanoma | Substitution - Missense |
c.1401G>A; p.Q467Q; 2:232381588-232381588 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.844C>A; p.P282T; 2:232380471-232380471 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1006C>T; p.R336C; 2:232380845-232380845 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.76+10C>A; p.?; 2:232378888-232378888 |
pancreas | carcinoma | Unknown |
c.619G>A; p.D207N; 2:232379898-232379898 |
skin | malignant_melanoma | Substitution - Missense |
c.619G>A; p.D207N; 2:232379898-232379898 |
skin | malignant_melanoma | Substitution - Missense |
c.1317C>T; p.P439P; 2:232381504-232381504 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.782C>G; p.A261G; 2:232380310-232380310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782C>G; p.A261G; 2:232380310-232380310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782C>G; p.A261G; 2:232380310-232380310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782C>G; p.A261G; 2:232380310-232380310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782C>G; p.A261G; 2:232380310-232380310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782C>G; p.A261G; 2:232380310-232380310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782C>G; p.A261G; 2:232380310-232380310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782C>G; p.A261G; 2:232380310-232380310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782C>G; p.A261G; 2:232380310-232380310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1593G>A; p.T531T; 2:232381780-232381780 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.782C>G; p.A261G; 2:232380310-232380310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.955C>T; p.R319C; 2:232380712-232380712 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.782C>G; p.A261G; 2:232380310-232380310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.782C>G; p.A261G; 2:232380310-232380310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.531G>A; p.S177S; 2:232379810-232379810 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.782C>G; p.A261G; 2:232380310-232380310 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1297G>A; p.E433K; 2:232381355-232381355 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.82G>T; p.E28*; 2:232378976-232378976 |
ovary | other; neoplasm | Substitution - Nonsense |
c.356C>T; p.T119M; 2:232379559-232379559 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1251C>T; p.N417N; 2:232381309-232381309 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1212C>T; p.A404A; 2:232381270-232381270 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1278C>T; p.G426G; 2:232381336-232381336 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1391G>A; p.R464H; 2:232381578-232381578 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.592G>T; p.A198S; 2:232379871-232379871 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.198G>A; p.M66I; 2:232379204-232379204 |
skin | malignant_melanoma | Substitution - Missense |
c.191A>G; p.D64G; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.191A>G; p.D64G; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.191A>G; p.D64G; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1601C>T; p.A534V; 2:232381788-232381788 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.548C>T; p.A183V; 2:232379827-232379827 |
skin | malignant_melanoma | Substitution - Missense |
c.604C>T; p.Q202*; 2:232379883-232379883 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.763C>T; p.L255L; 2:232380291-232380291 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1167delC; p.L391fs*90; 2:232381006-232381006 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.951C>T; p.A317A; 2:232380708-232380708 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.118G>A; p.E40K; 2:232379012-232379012 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.612G>T; p.G204G; 2:232379891-232379891 |
breast | carcinoma | Substitution - coding silent |
c.1535G>C; p.R512P; 2:232381722-232381722 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.740G>T; p.G247V; 2:232380268-232380268 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1348G>T; p.D450Y; 2:232381535-232381535 |
oesophagus | carcinoma | Substitution - Missense |
c.109G>C; p.E37Q; 2:232379003-232379003 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.109G>C; p.E37Q; 2:232379003-232379003 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.16_17insTGC; p.L13_G14insL; 2:232378818-232378819 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.194-1_194GG>AA; p.?; 2:232379199-232379200 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.19C>G; p.L7V; 2:232378821-232378821 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1245C>A; p.Y415*; 2:232381303-232381303 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.74C>G; p.P25R; 2:232378876-232378876 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.675C>T; p.G225G; 2:232380203-232380203 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.923C>T; p.P308L; 2:232380680-232380680 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1546C>T; p.P516S; 2:232381733-232381733 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.978C>T; p.R326R; 2:232380735-232380735 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.845C>G; p.P282R; 2:232380472-232380472 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.109G>A; p.E37K; 2:232379003-232379003 |
breast | carcinoma | Substitution - Missense |
c.448G>A; p.E150K; 2:232379651-232379651 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.106C>T; p.R36C; 2:232379000-232379000 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.74C>T; p.P25L; 2:232378876-232378876 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.133G>A; p.A45T; 2:232379027-232379027 |
pancreas | carcinoma | Substitution - Missense |
c.887T>G; p.M296R; 2:232380644-232380644 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1287G>A; p.P429P; 2:232381345-232381345 |
skin | malignant_melanoma | Substitution - coding silent |
c.657+1G>A; p.?; 2:232379937-232379937 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.815G>A; p.R272H; 2:232380442-232380442 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.865+8C>T; p.?; 2:232380500-232380500 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.435G>A; p.T145T; 2:232379638-232379638 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1352A>G; p.E451G; 2:232381539-232381539 |
breast | carcinoma | Substitution - Missense |
c.1352A>G; p.E451G; 2:232381539-232381539 |
thyroid | other; neoplasm | Substitution - Missense |
c.1352A>G; p.E451G; 2:232381539-232381539 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1352A>G; p.E451G; 2:232381539-232381539 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1278C>A; p.G426G; 2:232381336-232381336 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1352A>G; p.E451G; 2:232381539-232381539 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Langerhans_cell_histiocytosis | Substitution - Missense |
c.1352A>G; p.E451G; 2:232381539-232381539 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.751G>T; p.D251Y; 2:232380279-232380279 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.692G>C; p.R231P; 2:232380220-232380220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.692G>C; p.R231P; 2:232380220-232380220 |
thyroid | other; neoplasm | Substitution - Missense |
c.692G>C; p.R231P; 2:232380220-232380220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.692G>C; p.R231P; 2:232380220-232380220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.531G>T; p.S177S; 2:232379810-232379810 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.327A>G; p.K109K; 2:232379530-232379530 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.592G>A; p.A198T; 2:232379871-232379871 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1337C>T; p.A446V; 2:232381524-232381524 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1426G>C; p.E476Q; 2:232381613-232381613 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.787C>T; p.R263C; 2:232380315-232380315 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.539G>A; p.G180D; 2:232379818-232379818 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.787C>T; p.R263C; 2:232380315-232380315 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.787C>T; p.R263C; 2:232380315-232380315 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1462G>T; p.A488S; 2:232381649-232381649 |
skin | malignant_melanoma | Substitution - Missense |
c.273G>A; p.L91L; 2:232379279-232379279 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1386C>T; p.F462F; 2:232381573-232381573 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.282C>G; p.D94E; 2:232379288-232379288 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.415C>T; p.R139C; 2:232379618-232379618 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.415C>T; p.R139C; 2:232379618-232379618 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.17_19delTGC; p.L13delL; 2:232378819-232378821 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - In frame |
c.17_19delTGC; p.L13delL; 2:232378819-232378821 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.17_19delTGC; p.L13delL; 2:232378819-232378821 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.17_19delTGC; p.L13delL; 2:232378819-232378821 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - In frame |
c.17_19delTGC; p.L13delL; 2:232378819-232378821 |
breast | carcinoma | Deletion - In frame |
c.17_19delTGC; p.L13delL; 2:232378819-232378821 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.788G>A; p.R263H; 2:232380316-232380316 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.788G>A; p.R263H; 2:232380316-232380316 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.788G>A; p.R263H; 2:232380316-232380316 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.629C>T; p.T210M; 2:232379908-232379908 |
breast | carcinoma | Substitution - Missense |
c.629C>T; p.T210M; 2:232379908-232379908 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.788G>A; p.R263H; 2:232380316-232380316 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.191A>T; p.D64V; 2:232379085-232379085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.215C>T; p.T72I; 2:232379221-232379221 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.794G>A; p.G265D; 2:232380421-232380421 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.639C>G; p.I213M; 2:232379918-232379918 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.825C>G; p.L275L; 2:232380452-232380452 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1502C>G; p.P501R; 2:232381689-232381689 |
NS | malignant_melanoma | Substitution - Missense |
c.838C>T; p.L280L; 2:232380465-232380465 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.838C>T; p.L280L; 2:232380465-232380465 |
skin | malignant_melanoma | Substitution - coding silent |
c.294T>C; p.Y98Y; 2:232379300-232379300 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.759G>A; p.K253K; 2:232380287-232380287 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.772G>A; p.E258K; 2:232380300-232380300 |
skin | malignant_melanoma | Substitution - Missense |