| Gene ID | 1813 |
| Symbol | DRD2 |
| Synonymous | D2DR|D2R |
| Full name | dopamine receptor D2 |
| Gene description | D(2) dopamine receptor|dopamine D2 receptor|dopamine receptor D2 isoform|seven transmembrane helix receptor |
| Cytoband | 11q23 |
| Gene type | protein-coding |
| Synonymous | MIM:126450; HGNC:HGNC:3023; Ensembl:ENSG00000149295; HPRD:00539; Vega:OTTHUMG00000167717 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.500C>T; p.S167F; 11:113416895-113416895 |
skin | malignant_melanoma | Substitution - Missense |
c.500C>T; p.S167F; 11:113416895-113416895 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1198G>T; p.D400Y; 11:113410861-113410861 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1198G>T; p.D400Y; 11:113410861-113410861 |
prostate | carcinoma | Substitution - Missense |
c.517G>A; p.G173R; 11:113416878-113416878 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1078C>T; p.R360C; 11:113412616-113412616 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.237C>T; p.A79A; 11:113424415-113424415 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.948C>A; p.H316Q; 11:113412746-113412746 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.79G>A; p.G27R; 11:113424573-113424573 |
skin | malignant_melanoma | Substitution - Missense |
c.1250T>C; p.V417A; 11:113410809-113410809 |
prostate | carcinoma | Substitution - Missense |
c.1239G>A; p.W413*; 11:113410820-113410820 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.8C>T; p.P3L; 11:113424644-113424644 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.714T>A; p.A238A; 11:113415430-113415430 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.465G>A; p.M155I; 11:113416930-113416930 |
skin; ear | malignant_melanoma | Substitution - Missense |
c.52T>C; p.W18R; 11:113424600-113424600 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.569T>A; p.V190E; 11:113415575-113415575 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.806G>T; p.R269I; 11:113414379-113414379 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1140C>T; p.G380G; 11:113410919-113410919 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1083G>A; p.R361R; 11:113412611-113412611 |
skin | malignant_melanoma | Substitution - coding silent |
c.1083G>A; p.R361R; 11:113412611-113412611 |
skin | malignant_melanoma | Substitution - coding silent |
c.334A>T; p.T112S; 11:113418088-113418088 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.150C>T; p.F50F; 11:113424502-113424502 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.39G>A; p.L13L; 11:113424613-113424613 |
pancreas | carcinoma | Substitution - coding silent |
c.832G>A; p.E278K; 11:113412862-113412862 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.459C>T; p.T153T; 11:113416936-113416936 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.184G>A; p.E62K; 11:113424468-113424468 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.821G>A; p.R274Q; 11:113412873-113412873 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.656G>A; p.R219H; 11:113415488-113415488 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.567C>T; p.F189F; 11:113415577-113415577 |
breast | carcinoma | Substitution - coding silent |
c.567C>T; p.F189F; 11:113415577-113415577 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.782G>A; p.G261E; 11:113414403-113414403 |
skin | malignant_melanoma | Substitution - Missense |
c.112G>A; p.A38T; 11:113424540-113424540 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1228G>C; p.A410P; 11:113410831-113410831 |
skin | malignant_melanoma | Substitution - Missense |
c.87G>A; p.A29A; 11:113424565-113424565 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.87G>A; p.A29A; 11:113424565-113424565 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.172G>A; p.A58T; 11:113424480-113424480 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.869C>T; p.P290L; 11:113412825-113412825 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1102G>C; p.E368Q; 11:113412592-113412592 |
breast | carcinoma | Substitution - Missense |
c.1032G>A; p.Q344Q; 11:113412662-113412662 |
skin | malignant_melanoma | Substitution - coding silent |
c.115A>T; p.T39S; 11:113424537-113424537 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.183C>T; p.R61R; 11:113424469-113424469 |
pancreas | carcinoma | Substitution - coding silent |
c.689G>A; p.R230Q; 11:113415455-113415455 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1061C>T; p.S354F; 11:113412633-113412633 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1300C>T; p.R434C; 11:113410759-113410759 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.434G>A; p.R145H; 11:113416961-113416961 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.997G>A; p.D333N; 11:113412697-113412697 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.808G>C; p.V270L; 11:113414377-113414377 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1034C>A; p.T345N; 11:113412660-113412660 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.570G>T; p.V190V; 11:113415574-113415574 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.655C>A; p.R219S; 11:113415489-113415489 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1208T>C; p.I403T; 11:113410851-113410851 |
skin | malignant_melanoma | Substitution - Missense |
c.617T>A; p.L206Q; 11:113415527-113415527 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.421C>A; p.L141M; 11:113416974-113416974 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.649C>T; p.R217C; 11:113415495-113415495 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.882G>A; p.R294R; 11:113412812-113412812 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.540C>A; p.N180K; 11:113415604-113415604 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.265C>T; p.P89S; 11:113424387-113424387 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.763G>T; p.V255F; 11:113414422-113414422 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.448C>T; p.R150C; 11:113416947-113416947 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.448C>T; p.R150C; 11:113416947-113416947 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.448C>T; p.R150C; 11:113416947-113416947 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.930G>A; p.P310P; 11:113412764-113412764 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.30T>C; p.D10D; 11:113424622-113424622 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.568G>A; p.V190M; 11:113415576-113415576 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1091C>T; p.S364F; 11:113412603-113412603 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1091C>T; p.S364F; 11:113412603-113412603 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1091C>T; p.S364F; 11:113412603-113412603 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1091C>T; p.S364F; 11:113412603-113412603 |
skin | malignant_melanoma | Substitution - Missense |
c.698G>A; p.R233K; 11:113415446-113415446 |
skin | malignant_melanoma | Substitution - Missense |
c.900C>A; p.P300P; 11:113412794-113412794 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.947A>C; p.H316P; 11:113412747-113412747 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.475G>C; p.V159L; 11:113416920-113416920 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1305G>A; p.K435K; 11:113410754-113410754 |
skin | malignant_melanoma | Substitution - coding silent |
c.1304A>G; p.K435R; 11:113410755-113410755 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.191C>T; p.A64V; 11:113424461-113424461 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.130C>A; p.L44I; 11:113424522-113424522 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.828C>A; p.A276A; 11:113412866-113412866 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.66C>A; p.F22L; 11:113424586-113424586 |
breast | carcinoma | Substitution - Missense |
c.180C>T; p.S60S; 11:113424472-113424472 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - coding silent |
c.180C>T; p.S60S; 11:113424472-113424472 |
skin | malignant_melanoma | Substitution - coding silent |
c.646C>T; p.L216F; 11:113415498-113415498 |
skin | malignant_melanoma | Substitution - Missense |
c.560C>A; p.P187Q; 11:113415584-113415584 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.532+1G>T; p.?; 11:113416862-113416862 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.1311C>T; p.F437F; 11:113410748-113410748 |
skin | malignant_melanoma | Substitution - coding silent |
c.302A>C; p.K101T; 11:113418120-113418120 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.665G>A; p.R222Q; 11:113415479-113415479 |
skin | malignant_melanoma | Substitution - Missense |
c.696C>G; p.F232L; 11:113415448-113415448 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.311G>T; p.R104M; 11:113418111-113418111 |
breast | carcinoma | Substitution - Missense |
c.945C>T; p.L315L; 11:113412749-113412749 |
skin | malignant_melanoma | Substitution - coding silent |
c.1205A>G; p.N402S; 11:113410854-113410854 |
skin | malignant_melanoma | Substitution - Missense |
c.216G>C; p.L72L; 11:113424436-113424436 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.573C>T; p.V191V; 11:113415571-113415571 |
skin | malignant_melanoma | Substitution - coding silent |
c.513C>G; p.L171L; 11:113416882-113416882 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.136G>A; p.A46T; 11:113424516-113424516 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.963C>A; p.S321R; 11:113412731-113412731 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.221T>A; p.V74D; 11:113424431-113424431 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.773_779delAGTCTAA; p.K258fs*6; 11:113414406-113414412 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Deletion - Frameshift |
c.431C>T; p.T144M; 11:113416964-113416964 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.145G>A; p.V49I; 11:113424507-113424507 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1075A>G; p.S359G; 11:113412619-113412619 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1175C>A; p.T392K; 11:113410884-113410884 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.175G>A; p.V59M; 11:113424477-113424477 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.46C>A; p.Q16K; 11:113424606-113424606 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.723G>C; p.K241N; 11:113415421-113415421 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.330C>T; p.F110F; 11:113418092-113418092 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.762C>A; p.T254T; 11:113414423-113414423 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.330C>T; p.F110F; 11:113418092-113418092 |
skin | malignant_melanoma | Substitution - coding silent |
c.650G>A; p.R217H; 11:113415494-113415494 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1270A>G; p.I424V; 11:113410789-113410789 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.94C>A; p.P32T; 11:113424558-113424558 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.616C>A; p.L206M; 11:113415528-113415528 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.857G>A; p.S286N; 11:113412837-113412837 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.306C>T; p.F102F; 11:113418116-113418116 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1040C>T; p.P347L; 11:113412654-113412654 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.1211C>T; p.P404L; 11:113410848-113410848 |
skin | malignant_melanoma | Substitution - Missense |
c.1135C>T; p.L379F; 11:113412559-113412559 |
pancreas | carcinoma | Substitution - Missense |
c.614C>A; p.T205N; 11:113415530-113415530 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1079G>A; p.R360H; 11:113412615-113412615 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1079G>A; p.R360H; 11:113412615-113412615 |
stomach | adenocarcinoma | Substitution - Missense |
c.395G>C; p.R132T; 11:113418027-113418027 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1251C>A; p.V417V; 11:113410808-113410808 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.426C>T; p.Y142Y; 11:113416969-113416969 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.529G>A; p.A177T; 11:113416866-113416866 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.125C>T; p.T42I; 11:113424527-113424527 |
skin | malignant_melanoma | Substitution - Missense |
c.992C>T; p.A331V; 11:113412702-113412702 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1005C>A; p.P335P; 11:113412689-113412689 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.141C>A; p.V47V; 11:113424511-113424511 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.738_739CC>AA; p.H246>?; 11:113414446-113414447 |
lung | carcinoma; adenocarcinoma | Complex |
c.182G>A; p.R61H; 11:113424470-113424470 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.256C>A; p.L86M; 11:113424396-113424396 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.182G>A; p.R61H; 11:113424470-113424470 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.101A>G; p.Y34C; 11:113424551-113424551 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.552T>C; p.I184I; 11:113415592-113415592 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.564C>A; p.A188A; 11:113415580-113415580 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.838G>A; p.E280K; 11:113412856-113412856 |
skin | malignant_melanoma | Substitution - Missense |
c.838G>A; p.E280K; 11:113412856-113412856 |
skin | malignant_melanoma | Substitution - Missense |
c.352T>C; p.C118R; 11:113418070-113418070 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.297G>A; p.E99E; 11:113418125-113418125 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.380C>T; p.A127V; 11:113418042-113418042 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.380C>T; p.A127V; 11:113418042-113418042 |
skin | malignant_melanoma | Substitution - Missense |
c.715C>T; p.P239S; 11:113415429-113415429 |
skin | malignant_melanoma | Substitution - Missense |
c.518G>A; p.G173E; 11:113416877-113416877 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.87G>T; p.A29A; 11:113424565-113424565 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.968C>T; p.A323V; 11:113412726-113412726 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1196G>C; p.C399S; 11:113410863-113410863 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.192G>A; p.A64A; 11:113424460-113424460 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.78C>A; p.D26E; 11:113424574-113424574 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.890C>A; p.P297H; 11:113412804-113412804 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1314G>A; p.L438L; 11:113410745-113410745 |
skin | malignant_melanoma | Substitution - coding silent |
c.1227C>T; p.S409S; 11:113410832-113410832 |
breast | carcinoma | Substitution - coding silent |
c.633G>A; p.K211K; 11:113415511-113415511 |
skin | malignant_melanoma | Substitution - coding silent |
c.606C>T; p.F202F; 11:113415538-113415538 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.195G>A; p.L65L; 11:113424457-113424457 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1191A>G; p.I397M; 11:113410868-113410868 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.460G>A; p.V154I; 11:113416935-113416935 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.470C>T; p.S157F; 11:113416925-113416925 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.62_66delCCTTC; p.P21fs*77; 11:113424586-113424590 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.395G>A; p.R132K; 11:113418027-113418027 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.348G>A; p.M116I; 11:113418074-113418074 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.818C>T; p.A273V; 11:113412876-113412876 |
ovary | other; neoplasm | Substitution - Missense |
c.124A>C; p.T42P; 11:113424528-113424528 |
skin | malignant_melanoma | Substitution - Missense |
c.356C>T; p.T119M; 11:113418066-113418066 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.881G>T; p.R294L; 11:113412813-113412813 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.802C>T; p.R268W; 11:113414383-113414383 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.156C>T; p.N52N; 11:113424496-113424496 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.234G>A; p.V78V; 11:113424418-113424418 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.871G>T; p.E291*; 11:113412823-113412823 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.803G>A; p.R268Q; 11:113414382-113414382 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.593_595delTCT; p.F198del; 11:113415549-113415551 |
pancreas | NS | Deletion - In frame |
c.675C>T; p.T225T; 11:113415469-113415469 |
skin | malignant_melanoma | Substitution - coding silent |
c.85G>A; p.A29T; 11:113424567-113424567 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.314T>C; p.I105T; 11:113418108-113418108 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.384C>T; p.I128I; 11:113418038-113418038 |
skin | malignant_melanoma | Substitution - coding silent |
c.739_740CC>AA; p.P247N; 11:113414445-113414446 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.644T>C; p.V215A; 11:113415500-113415500 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1224C>A; p.Y408*; 11:113410835-113410835 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1258G>A; p.A420T; 11:113410801-113410801 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.285+1G>A; p.?; 11:113424366-113424366 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.708G>A; p.L236L; 11:113415436-113415436 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.456C>T; p.V152V; 11:113416939-113416939 |
skin | malignant_melanoma | Substitution - coding silent |
c.113C>T; p.A38V; 11:113424539-113424539 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1128C>T; p.A376A; 11:113412566-113412566 |
skin | malignant_melanoma | Substitution - coding silent |
c.655C>T; p.R219C; 11:113415489-113415489 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.433C>T; p.R145C; 11:113416962-113416962 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.680G>A; p.R227H; 11:113415464-113415464 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1137C>T; p.L379L; 11:113412557-113412557 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.601C>T; p.P201S; 11:113415543-113415543 |
skin | malignant_melanoma | Substitution - Missense |
c.1003C>A; p.P335T; 11:113412691-113412691 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.981G>T; p.K327N; 11:113412713-113412713 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |