| Gene ID | 4481 |
| Symbol | MSR1 |
| Synonymous | CD204|SCARA1|SR-A|SRA|phSR1|phSR2 |
| Full name | macrophage scavenger receptor 1 |
| Gene description | macrophage acetylated LDL receptor I and II|macrophage scavenger receptor type III|macrophage scavenger receptor types I and II|scavenger receptor class A member 1|scavenger receptor class A, member 1 |
| Cytoband | 8p22 |
| Gene type | protein-coding |
| Synonymous | MIM:153622; HGNC:HGNC:7376; Ensembl:ENSG00000038945; HPRD:01092; Vega:OTTHUMG00000094809 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.294G>A; p.T98T; 8:16168794-16168794 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.971G>A; p.G324E; 8:16150239-16150239 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.394G>A; p.E132K; 8:16168694-16168694 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772G>T; p.D258Y; 8:16164110-16164110 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.394G>A; p.E132K; 8:16168694-16168694 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.582A>G; p.I194M; 8:16168506-16168506 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1145G>A; p.R382H; 8:16120495-16120495 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.892C>T; p.P298S; 8:16155070-16155070 |
skin | malignant_melanoma | Substitution - Missense |
c.363G>A; p.M121I; 8:16168725-16168725 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.363G>A; p.M121I; 8:16168725-16168725 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.892C>T; p.P298S; 8:16155070-16155070 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.240G>A; p.T80T; 8:16168848-16168848 |
skin | malignant_melanoma | Substitution - coding silent |
c.240G>A; p.T80T; 8:16168848-16168848 |
skin | malignant_melanoma | Substitution - coding silent |
c.240G>A; p.T80T; 8:16168848-16168848 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.366G>A; p.E122E; 8:16168722-16168722 |
skin | malignant_melanoma | Substitution - coding silent |
c.814C>T; p.Q272*; 8:16164068-16164068 |
skin | malignant_melanoma | Substitution - Nonsense |
c.585A>C; p.E195D; 8:16168503-16168503 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.583G>T; p.E195*; 8:16168505-16168505 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.302G>A; p.G101E; 8:16168786-16168786 |
skin | malignant_melanoma | Substitution - Missense |
c.302G>A; p.G101E; 8:16168786-16168786 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.302G>A; p.G101E; 8:16168786-16168786 |
skin | malignant_melanoma | Substitution - Missense |
c.302G>A; p.G101E; 8:16168786-16168786 |
skin | malignant_melanoma | Substitution - Missense |
c.631G>A; p.E211K; 8:16164251-16164251 |
skin | malignant_melanoma | Substitution - Missense |
c.196C>T; p.P66S; 8:16175208-16175208 |
skin | malignant_melanoma | Substitution - Missense |
c.76C>T; p.R26C; 8:16177913-16177913 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.947G>T; p.S316I; 8:16150263-16150263 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.947G>T; p.S316I; 8:16150263-16150263 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.490T>C; p.S164P; 8:16168598-16168598 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1047A>C; p.K349N; 8:16120593-16120593 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.296G>A; p.G99E; 8:16168792-16168792 |
skin | malignant_melanoma | Substitution - Missense |
c.104-1G>T; p.?; 8:16175301-16175301 |
lung | carcinoma; adenocarcinoma | Unknown |
c.528C>T; p.I176I; 8:16168560-16168560 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1267G>A; p.E423K; 8:16110174-16110174 |
skin | malignant_melanoma | Substitution - Missense |
c.1267G>A; p.E423K; 8:16110174-16110174 |
skin | malignant_melanoma | Substitution - Missense |
c.923G>T; p.R308L; 8:16150287-16150287 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1161C>A; p.V387V; 8:16120479-16120479 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.774T>C; p.D258D; 8:16164108-16164108 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.723A>C; p.K241N; 8:16164159-16164159 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.818-1G>T; p.?; 8:16155145-16155145 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.565G>A; p.D189N; 8:16168523-16168523 |
skin | malignant_melanoma | Substitution - Missense |
c.1059C>T; p.V353V; 8:16120581-16120581 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.653G>C; p.R218P; 8:16164229-16164229 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.634A>T; p.I212F; 8:16164248-16164248 |
oesophagus | carcinoma | Substitution - Missense |
c.449A>C; p.Q150P; 8:16168639-16168639 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.103+1G>T; p.?; 8:16177885-16177885 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.599A>C; p.K200T; 8:16168489-16168489 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.981A>C; p.G327G; 8:16143610-16143610 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.409G>A; p.D137N; 8:16168679-16168679 |
skin | malignant_melanoma | Substitution - Missense |
c.1009G>A; p.E337K; 8:16143582-16143582 |
skin | malignant_melanoma | Substitution - Missense |
c.988G>A; p.G330R; 8:16143603-16143603 |
skin | malignant_melanoma | Substitution - Missense |
c.1015G>A; p.G339R; 8:16143576-16143576 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.1195G>A; p.V399M; 8:16120445-16120445 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.810A>T; p.L270F; 8:16164072-16164072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1302G>A; p.W434*; 8:16110139-16110139 |
skin | malignant_melanoma | Substitution - Nonsense |
c.312C>T; p.S104S; 8:16168776-16168776 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1051C>A; p.R351R; 8:16120589-16120589 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.724G>A; p.G242R; 8:16164158-16164158 |
skin | malignant_melanoma | Substitution - Missense |
c.1263G>A; p.G421G; 8:16110178-16110178 |
skin | malignant_melanoma | Substitution - coding silent |
c.58T>A; p.S20T; 8:16177931-16177931 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1068C>A; p.S356R; 8:16120572-16120572 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.935G>A; p.G312D; 8:16150275-16150275 |
skin | malignant_melanoma | Substitution - Missense |
c.980G>A; p.G327E; 8:16143611-16143611 |
skin | malignant_melanoma | Substitution - Missense |
c.980G>A; p.G327E; 8:16143611-16143611 |
skin | malignant_melanoma | Substitution - Missense |
c.307G>T; p.D103Y; 8:16168781-16168781 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.877C>T; p.R293*; 8:16155085-16155085 |
oesophagus | carcinoma | Substitution - Nonsense |
c.1186G>A; p.V396I; 8:16120454-16120454 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.306T>G; p.N102K; 8:16168782-16168782 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1111T>A; p.W371R; 8:16120529-16120529 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.306T>G; p.N102K; 8:16168782-16168782 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.491C>T; p.S164F; 8:16168597-16168597 |
skin | malignant_melanoma | Substitution - Missense |
c.279A>G; p.I93M; 8:16168809-16168809 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.898G>T; p.G300C; 8:16155064-16155064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.766C>G; p.L256V; 8:16164116-16164116 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.898G>T; p.G300C; 8:16155064-16155064 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1033+1G>T; p.?; 8:16143557-16143557 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.1223-1G>A; p.?; 8:16110219-16110219 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.338T>C; p.V113A; 8:16168750-16168750 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1306A>G; p.T436A; 8:16110135-16110135 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.289C>T; p.L97F; 8:16168799-16168799 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.448C>A; p.Q150K; 8:16168640-16168640 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.375C>T; p.I125I; 8:16168713-16168713 |
skin | malignant_melanoma | Substitution - coding silent |
c.334G>T; p.E112*; 8:16168754-16168754 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.907G>A; p.G303S; 8:16150303-16150303 |
skin | malignant_melanoma | Substitution - Missense |
c.59C>A; p.S20Y; 8:16177930-16177930 |
breast | carcinoma | Substitution - Missense |
c.976C>T; p.P326S; 8:16150234-16150234 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.557C>T; p.T186I; 8:16168531-16168531 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.714G>A; p.Q238Q; 8:16164168-16164168 |
skin | malignant_melanoma | Substitution - coding silent |
c.847G>T; p.D283Y; 8:16155115-16155115 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1136G>A; p.W379*; 8:16120504-16120504 |
liver | carcinoma | Substitution - Nonsense |
c.900T>A; p.G300G; 8:16150310-16150310 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1077C>T; p.H359H; 8:16120563-16120563 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1077C>T; p.H359H; 8:16120563-16120563 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1077C>T; p.H359H; 8:16120563-16120563 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1077C>T; p.H359H; 8:16120563-16120563 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1136G>A; p.W379*; 8:16120504-16120504 |
liver | carcinoma | Substitution - Nonsense |
c.1219C>G; p.Q407E; 8:16120421-16120421 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.184G>C; p.A62P; 8:16175220-16175220 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; non_functioning | Substitution - Missense |
c.116G>A; p.S39N; 8:16175288-16175288 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.106C>T; p.P36S; 8:16175298-16175298 |
skin | malignant_melanoma | Substitution - Missense |
c.217G>A; p.A73T; 8:16175187-16175187 |
skin | malignant_melanoma | Substitution - Missense |
c.704A>G; p.H235R; 8:16164178-16164178 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.319G>A; p.E107K; 8:16168769-16168769 |
skin | malignant_melanoma | Substitution - Missense |
c.319G>A; p.E107K; 8:16168769-16168769 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1153C>A; p.Q385K; 8:16120487-16120487 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.319G>A; p.E107K; 8:16168769-16168769 |
skin | malignant_melanoma | Substitution - Missense |
c.319G>A; p.E107K; 8:16168769-16168769 |
skin | malignant_melanoma | Substitution - Missense |
c.1337G>T; p.G446V; 8:16110104-16110104 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1261G>C; p.G421R; 8:16110180-16110180 |
breast | carcinoma | Substitution - Missense |
c.980-1G>A; p.?; 8:16143612-16143612 |
skin | malignant_melanoma | Unknown |
c.649G>A; p.E217K; 8:16164233-16164233 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1044G>A; p.T348T; 8:16120596-16120596 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1044G>A; p.T348T; 8:16120596-16120596 |
skin | malignant_melanoma | Substitution - coding silent |
c.823C>G; p.P275A; 8:16155139-16155139 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.823C>G; p.P275A; 8:16155139-16155139 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.823C>G; p.P275A; 8:16155139-16155139 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.946A>C; p.S316R; 8:16150264-16150264 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.195C>T; p.I65I; 8:16175209-16175209 |
skin | malignant_melanoma | Substitution - coding silent |
c.823C>G; p.P275A; 8:16155139-16155139 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1212C>T; p.H404H; 8:16120428-16120428 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.853G>T; p.G285C; 8:16155109-16155109 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.199C>T; p.L67F; 8:16175205-16175205 |
skin | malignant_melanoma | Substitution - Missense |
c.1232C>A; p.P411Q; 8:16110209-16110209 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.856C>T; p.P286S; 8:16155106-16155106 |
skin | malignant_melanoma | Substitution - Missense |
c.1007_1008GG>AA; p.G336E; 8:16143583-16143584 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1304G>A; p.G435E; 8:16110137-16110137 |
skin | malignant_melanoma | Substitution - Missense |
c.1146C>T; p.R382R; 8:16120494-16120494 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.483C>A; p.T161T; 8:16168605-16168605 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.233G>A; p.W78*; 8:16168855-16168855 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.1051C>T; p.R351*; 8:16120589-16120589 |
skin | malignant_melanoma | Substitution - Nonsense |
c.830C>T; p.P277L; 8:16155132-16155132 |
skin | malignant_melanoma | Substitution - Missense |
c.1051C>T; p.R351*; 8:16120589-16120589 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.301G>A; p.G101R; 8:16168787-16168787 |
skin | malignant_melanoma | Substitution - Missense |
c.274G>T; p.D92Y; 8:16168814-16168814 |
oesophagus | carcinoma | Substitution - Missense |
c.957C>T; p.L319L; 8:16150253-16150253 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.604C>T; p.Q202*; 8:16168484-16168484 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1171T>C; p.L391L; 8:16120469-16120469 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.971delG; p.G324fs*21; 8:16150239-16150239 |
breast | carcinoma | Deletion - Frameshift |
c.369G>A; p.K123K; 8:16168719-16168719 |
skin | malignant_melanoma | Substitution - coding silent |
c.903T>C; p.P301P; 8:16150307-16150307 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1007G>A; p.G336E; 8:16143584-16143584 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.371G>T; p.R124I; 8:16168717-16168717 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.961G>T; p.G321*; 8:16150249-16150249 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.204T>G; p.I68M; 8:16175200-16175200 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.178G>C; p.V60L; 8:16175226-16175226 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.127C>A; p.Q43K; 8:16175277-16175277 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1036C>T; p.P346S; 8:16120604-16120604 |
skin | malignant_melanoma | Substitution - Missense |
c.313G>A; p.E105K; 8:16168775-16168775 |
skin | malignant_melanoma | Substitution - Missense |
c.313G>A; p.E105K; 8:16168775-16168775 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1158C>T; p.V386V; 8:16120482-16120482 |
skin | malignant_melanoma | Substitution - coding silent |
c.1158C>T; p.V386V; 8:16120482-16120482 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1075C>T; p.H359Y; 8:16120565-16120565 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1082G>A; p.G361E; 8:16120558-16120558 |
skin | malignant_melanoma | Substitution - Missense |
c.103+1G>A; p.?; 8:16177885-16177885 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.1128C>T; p.D376D; 8:16120512-16120512 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.820C>T; p.P274S; 8:16155142-16155142 |
skin | malignant_melanoma | Substitution - Missense |
c.1021G>A; p.G341R; 8:16143570-16143570 |
skin | malignant_melanoma | Substitution - Missense |
c.1319C>T; p.S440L; 8:16110122-16110122 |
skin | malignant_melanoma | Substitution - Missense |
c.1183G>T; p.G395C; 8:16120457-16120457 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1229G>A; p.G410D; 8:16110212-16110212 |
skin | malignant_melanoma | Substitution - Missense |
c.905C>T; p.P302L; 8:16150305-16150305 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.77G>A; p.R26H; 8:16177912-16177912 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.441A>G; p.T147T; 8:16168647-16168647 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.33G>A; p.Q11Q; 8:16177956-16177956 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.677T>C; p.I226T; 8:16164205-16164205 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.850C>T; p.R284*; 8:16155112-16155112 |
skin | malignant_melanoma | Substitution - Nonsense |
c.850C>T; p.R284*; 8:16155112-16155112 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.13G>A; p.D5N; 8:16177976-16177976 |
skin | malignant_melanoma | Substitution - Missense |
c.1222+1G>A; p.?; 8:16120417-16120417 |
skin; trunk | malignant_melanoma | Unknown |
c.248G>A; p.C83Y; 8:16168840-16168840 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.324G>A; p.M108I; 8:16168764-16168764 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1275T>C; p.S425S; 8:16110166-16110166 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1282G>A; p.E428K; 8:16110159-16110159 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.757G>T; p.D253Y; 8:16164125-16164125 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.757G>T; p.D253Y; 8:16164125-16164125 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.523G>T; p.E175*; 8:16168565-16168565 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Nonsense |
c.878G>A; p.R293Q; 8:16155084-16155084 |
skin | malignant_melanoma | Substitution - Missense |
c.339C>A; p.V113V; 8:16168749-16168749 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.694_696delGAA; p.E232delE; 8:16164186-16164188 |
stomach | carcinoma; diffuse_adenocarcinoma | Deletion - In frame |
c.851G>A; p.R284Q; 8:16155111-16155111 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.504A>T; p.G168G; 8:16168584-16168584 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.570G>T; p.L190F; 8:16168518-16168518 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1314C>T; p.A438A; 8:16110127-16110127 |
skin | malignant_melanoma | Substitution - coding silent |
c.944G>A; p.G315E; 8:16150266-16150266 |
skin | malignant_melanoma | Substitution - Missense |
c.833C>T; p.P278L; 8:16155129-16155129 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.708G>T; p.L236F; 8:16164174-16164174 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1138G>A; p.E380K; 8:16120502-16120502 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1052G>T; p.R351L; 8:16120588-16120588 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.18C>T; p.H6H; 8:16177971-16177971 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.712C>T; p.Q238*; 8:16164170-16164170 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.712C>T; p.Q238*; 8:16164170-16164170 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1068C>T; p.S356S; 8:16120572-16120572 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.371G>A; p.R124K; 8:16168717-16168717 |
skin | malignant_melanoma | Substitution - Missense |
c.536C>T; p.S179F; 8:16168552-16168552 |
skin | malignant_melanoma | Substitution - Missense |
c.311G>A; p.S104N; 8:16168777-16168777 |
skin | malignant_melanoma | Substitution - Missense |
c.901C>T; p.P301S; 8:16150309-16150309 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.778G>A; p.E260K; 8:16164104-16164104 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.653G>A; p.R218H; 8:16164229-16164229 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.653G>A; p.R218H; 8:16164229-16164229 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.815A>C; p.Q272P; 8:16164067-16164067 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.209T>A; p.I70K; 8:16175195-16175195 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.88G>A; p.A30T; 8:16177901-16177901 |
skin | malignant_melanoma | Substitution - Missense |
c.206G>T; p.G69V; 8:16175198-16175198 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1133G>A; p.R378H; 8:16120507-16120507 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1043C>T; p.T348M; 8:16120597-16120597 |
liver | carcinoma | Substitution - Missense |
c.1133G>A; p.R378H; 8:16120507-16120507 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1104C>A; p.S368R; 8:16120536-16120536 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.101C>T; p.P34L; 8:16177888-16177888 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.862G>A; p.G288R; 8:16155100-16155100 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.845G>A; p.G282E; 8:16155117-16155117 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.808T>A; p.L270I; 8:16164074-16164074 |
skin | malignant_melanoma | Substitution - Missense |
c.1292T>G; p.I431S; 8:16110149-16110149 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.690A>T; p.K230N; 8:16164192-16164192 |
skin | malignant_melanoma | Substitution - Missense |
c.791C>A; p.T264N; 8:16164091-16164091 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.208A>C; p.I70L; 8:16175196-16175196 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.200T>C; p.L67P; 8:16175204-16175204 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.757G>A; p.D253N; 8:16164125-16164125 |
skin | malignant_melanoma | Substitution - Missense |
c.354G>T; p.M118I; 8:16168734-16168734 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.949C>T; p.R317*; 8:16150261-16150261 |
skin | malignant_melanoma | Substitution - Nonsense |
c.896T>A; p.I299K; 8:16155066-16155066 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |