| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 5801 |
Name | PTPRR |
Synonymous | protein tyrosine phosphatase, receptor type, R;PTPRR;protein tyrosine phosphatase, receptor type, R |
Definition | Ch-1 PTPase|NC-PTPCOM1|R-PTP-R|ch-1PTPase|protein tyrosine phosphatase Cr1PTPase|protein-tyrosine phosphatase NC-PTPCOM1|protein-tyrosine phosphatase PCPTP1|receptor-type tyrosine-protein phosphatase R |
Position | 12q15 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1640A>G; p.Y547C; 12:70661066-70661066 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1375G>T; p.E459*; 12:70684249-70684249 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1502G>A; p.C501Y; 12:70662601-70662601 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1122C>T; p.A374A; 12:70701209-70701209 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1159G>A; p.V387M; 12:70701172-70701172 |
pancreas | carcinoma | Substitution - Missense |
c.1159G>A; p.V387M; 12:70701172-70701172 |
liver | carcinoma | Substitution - Missense |
c.1903G>T; p.E635*; 12:70639255-70639255 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.790G>C; p.E264Q; 12:70746035-70746035 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1903G>T; p.E635*; 12:70639255-70639255 |
liver | carcinoma | Substitution - Nonsense |
c.292G>A; p.A98T; 12:70892744-70892744 |
skin | malignant_melanoma | Substitution - Missense |
c.204C>T; p.S68S; 12:70892832-70892832 |
skin | malignant_melanoma | Substitution - coding silent |
c.22C>G; p.P8A; 12:70920369-70920369 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.325C>A; p.L109I; 12:70892711-70892711 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.523G>A; p.G175R; 12:70761575-70761575 |
skin | malignant_melanoma | Substitution - Missense |
c.1537G>A; p.G513R; 12:70662566-70662566 |
skin | malignant_melanoma | Substitution - Missense |
c.416G>A; p.G139E; 12:70764720-70764720 |
pancreas | carcinoma | Substitution - Missense |
c.52G>A; p.A18T; 12:70920339-70920339 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.658G>A; p.D220N; 12:70754271-70754271 |
skin | malignant_melanoma | Substitution - Missense |
c.716T>G; p.V239G; 12:70754213-70754213 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.703C>A; p.L235I; 12:70754226-70754226 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1867C>A; p.L623I; 12:70656717-70656717 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.260G>A; p.R87K; 12:70892776-70892776 |
skin | malignant_melanoma | Substitution - Missense |
c.338C>T; p.A113V; 12:70892698-70892698 |
breast | carcinoma | Substitution - Missense |
c.532G>C; p.D178H; 12:70761566-70761566 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.126C>T; p.F42F; 12:70892910-70892910 |
skin | malignant_melanoma | Substitution - coding silent |
c.231C>T; p.R77R; 12:70892805-70892805 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1789T>G; p.C597G; 12:70656795-70656795 |
breast | carcinoma | Substitution - Missense |
c.231C>T; p.R77R; 12:70892805-70892805 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1282C>T; p.P428S; 12:70684781-70684781 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.898A>G; p.N300D; 12:70745927-70745927 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.679G>T; p.G227*; 12:70754250-70754250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1210T>G; p.F404V; 12:70698334-70698334 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.798C>A; p.N266K; 12:70746027-70746027 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.798C>A; p.N266K; 12:70746027-70746027 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.304C>G; p.Q102E; 12:70892732-70892732 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.130T>C; p.Y44H; 12:70892906-70892906 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1770A>T; p.A590A; 12:70656814-70656814 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1241G>A; p.R414H; 12:70698303-70698303 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1078C>T; p.P360S; 12:70701253-70701253 |
skin | malignant_melanoma | Substitution - Missense |
c.569A>G; p.N190S; 12:70761529-70761529 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1395G>T; p.T465T; 12:70684229-70684229 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1787G>A; p.G596E; 12:70656797-70656797 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1250C>A; p.T417N; 12:70698294-70698294 |
ovary | other; neoplasm | Substitution - Missense |
c.86T>G; p.F29C; 12:70892950-70892950 |
skin | malignant_melanoma | Substitution - Missense |
c.1250C>A; p.T417N; 12:70698294-70698294 |
ovary | other; neoplasm | Substitution - Missense |
c.1127G>A; p.R376Q; 12:70701204-70701204 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1121C>T; p.A374V; 12:70701210-70701210 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1127G>A; p.R376Q; 12:70701204-70701204 |
skin | malignant_melanoma | Substitution - Missense |
c.1127G>A; p.R376Q; 12:70701204-70701204 |
skin | malignant_melanoma | Substitution - Missense |
c.1374G>C; p.K458N; 12:70684250-70684250 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1788G>A; p.G596G; 12:70656796-70656796 |
skin | malignant_melanoma | Substitution - coding silent |
c.108G>T; p.K36N; 12:70892928-70892928 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.230G>A; p.R77H; 12:70892806-70892806 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.230G>A; p.R77H; 12:70892806-70892806 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.230G>A; p.R77H; 12:70892806-70892806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.230G>A; p.R77H; 12:70892806-70892806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1727T>G; p.L576R; 12:70660979-70660979 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.230G>A; p.R77H; 12:70892806-70892806 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.230G>A; p.R77H; 12:70892806-70892806 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.198C>T; p.Y66Y; 12:70892838-70892838 |
skin | malignant_melanoma | Substitution - coding silent |
c.230G>A; p.R77H; 12:70892806-70892806 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.230G>A; p.R77H; 12:70892806-70892806 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1126C>A; p.R376R; 12:70701205-70701205 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1126C>A; p.R376R; 12:70701205-70701205 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1730C>A; p.A577D; 12:70660976-70660976 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1157T>A; p.V386D; 12:70701174-70701174 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.761G>T; p.R254I; 12:70746064-70746064 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.71G>A; p.G24E; 12:70892965-70892965 |
skin | malignant_melanoma | Substitution - Missense |
c.1470G>A; p.M490I; 12:70684154-70684154 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.766C>T; p.Q256*; 12:70746059-70746059 |
skin | malignant_melanoma | Substitution - Nonsense |
c.524G>T; p.G175V; 12:70761574-70761574 |
skin | malignant_melanoma | Substitution - Missense |
c.1082C>T; p.T361I; 12:70701249-70701249 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1206G>A; p.M402I; 12:70698338-70698338 |
skin | malignant_melanoma | Substitution - Missense |
c.1206G>A; p.M402I; 12:70698338-70698338 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.562T>C; p.S188P; 12:70761536-70761536 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1234A>T; p.I412F; 12:70698310-70698310 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.1530G>A; p.G510G; 12:70662573-70662573 |
skin | malignant_melanoma | Substitution - coding silent |
c.1343A>G; p.N448S; 12:70684720-70684720 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.120G>A; p.P40P; 12:70892916-70892916 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1530G>A; p.G510G; 12:70662573-70662573 |
skin | malignant_melanoma | Substitution - coding silent |
c.1025C>T; p.S342F; 12:70701306-70701306 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.1591C>T; p.R531*; 12:70662512-70662512 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1591C>T; p.R531*; 12:70662512-70662512 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1591C>T; p.R531*; 12:70662512-70662512 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1697A>T; p.Q566L; 12:70661009-70661009 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3G>T; p.M1I; 12:70920388-70920388 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.122T>C; p.V41A; 12:70892914-70892914 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.573C>G; p.I191M; 12:70761525-70761525 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>A; p.L248I; 12:70746083-70746083 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.742C>A; p.L248I; 12:70746083-70746083 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1111C>T; p.L371L; 12:70701220-70701220 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1527A>T; p.R509S; 12:70662576-70662576 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.179A>T; p.K60I; 12:70892857-70892857 |
skin | malignant_melanoma | Substitution - Missense |
c.853A>G; p.T285A; 12:70745972-70745972 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1480C>A; p.L494I; 12:70684144-70684144 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.955A>G; p.T319A; 12:70745870-70745870 |
liver | carcinoma | Substitution - Missense |
c.990C>T; p.P330P; 12:70745835-70745835 |
skin | malignant_melanoma | Substitution - coding silent |
c.1742G>A; p.R581Q; 12:70660964-70660964 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1742G>A; p.R581Q; 12:70660964-70660964 |
skin | malignant_melanoma | Substitution - Missense |
c.895C>A; p.L299M; 12:70745930-70745930 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.578delT; p.L194fs*48; 12:70761520-70761520 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1258C>T; p.R420C; 12:70698286-70698286 |
skin | malignant_melanoma | Substitution - Missense |
c.928G>A; p.A310T; 12:70745897-70745897 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1951C>T; p.L651F; 12:70639207-70639207 |
skin | malignant_melanoma | Substitution - Missense |
c.213A>T; p.E71D; 12:70892823-70892823 |
skin | malignant_melanoma | Substitution - Missense |
c.334C>A; p.P112T; 12:70892702-70892702 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1020C>T; p.N340N; 12:70701311-70701311 |
pancreas | carcinoma | Substitution - coding silent |
c.229C>T; p.R77C; 12:70892807-70892807 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1391_1392insA; p.T465fs*11; 12:70684232-70684233 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1017C>T; p.S339S; 12:70701314-70701314 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1016C>T; p.S339F; 12:70701315-70701315 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.322A>T; p.N108Y; 12:70892714-70892714 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1401C>A; p.G467G; 12:70684223-70684223 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.708C>A; p.S236R; 12:70754221-70754221 |
skin | malignant_melanoma | Substitution - Missense |
c.232C>G; p.H78D; 12:70892804-70892804 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1246G>C; p.G416R; 12:70698298-70698298 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1146G>T; p.Q382H; 12:70701185-70701185 |
prostate | carcinoma | Substitution - Missense |
c.1835G>A; p.G612E; 12:70656749-70656749 |
skin | malignant_melanoma | Substitution - Missense |
c.1166G>A; p.S389N; 12:70701165-70701165 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.350T>C; p.I117T; 12:70892686-70892686 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1093A>G; p.K365E; 12:70701238-70701238 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.110G>A; p.S37N; 12:70892926-70892926 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1684C>A; p.Q562K; 12:70661022-70661022 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1021G>A; p.V341I; 12:70701310-70701310 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1087C>T; p.R363W; 12:70701244-70701244 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1087C>T; p.R363W; 12:70701244-70701244 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1331G>T; p.S444I; 12:70684732-70684732 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1493delA; p.N498fs*25; 12:70684131-70684131 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1493delA; p.N498fs*25; 12:70684131-70684131 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.989C>T; p.P330L; 12:70745836-70745836 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.596C>T; p.S199F; 12:70761502-70761502 |
skin | malignant_melanoma | Substitution - Missense |
c.1153G>A; p.D385N; 12:70701178-70701178 |
skin | malignant_melanoma | Substitution - Missense |
c.900T>C; p.N300N; 12:70745925-70745925 |
bone; femur | chondrosarcoma | Substitution - coding silent |
c.1621A>G; p.T541A; 12:70661085-70661085 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1256A>C; p.N419T; 12:70698288-70698288 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1621A>G; p.T541A; 12:70661085-70661085 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1621A>G; p.T541A; 12:70661085-70661085 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.790G>T; p.E264*; 12:70746035-70746035 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1689C>A; p.P563P; 12:70661017-70661017 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.613G>T; p.E205*; 12:70761485-70761485 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.628-1G>A; p.?; 12:70754302-70754302 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.477G>A; p.K159K; 12:70761621-70761621 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.387C>T; p.N129N; 12:70764749-70764749 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.471+5G>A; p.?; 12:70764660-70764660 |
pancreas | carcinoma | Unknown |
c.333C>T; p.I111I; 12:70892703-70892703 |
skin | malignant_melanoma | Substitution - coding silent |
c.401G>A; p.R134Q; 12:70764735-70764735 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.402G>A; p.R134R; 12:70764734-70764734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.833C>A; p.P278Q; 12:70745992-70745992 |
liver | carcinoma | Substitution - Missense |
c.833C>A; p.P278Q; 12:70745992-70745992 |
liver | carcinoma | Substitution - Missense |
c.701T>G; p.F234C; 12:70754228-70754228 |
skin | malignant_melanoma | Substitution - Missense |
c.679G>A; p.G227R; 12:70754250-70754250 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1169C>T; p.S390L; 12:70701162-70701162 |
skin | malignant_melanoma | Substitution - Missense |
c.1053G>A; p.G351G; 12:70701278-70701278 |
skin | malignant_melanoma | Substitution - coding silent |
c.624T>G; p.P208P; 12:70761474-70761474 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1817A>G; p.Q606R; 12:70656767-70656767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1461G>A; p.V487V; 12:70684163-70684163 |
skin | malignant_melanoma | Substitution - coding silent |
c.438C>G; p.L146L; 12:70764698-70764698 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1298G>T; p.C433F; 12:70684765-70684765 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.495G>C; p.L165L; 12:70761603-70761603 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.738G>A; p.M246I; 12:70754191-70754191 |
skin | malignant_melanoma | Substitution - Missense |
c.559C>T; p.R187C; 12:70761539-70761539 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.559C>T; p.R187C; 12:70761539-70761539 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.352G>A; p.V118M; 12:70892684-70892684 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.559C>T; p.R187C; 12:70761539-70761539 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1618C>A; p.H540N; 12:70661088-70661088 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1607_1608+4delAGGTAA; p.?; 12:70662491-70662496 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.829C>T; p.Q277*; 12:70745996-70745996 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.264C>T; p.P88P; 12:70892772-70892772 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1542A>C; p.K514N; 12:70662561-70662561 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.276G>T; p.P92P; 12:70892760-70892760 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1562G>A; p.S521N; 12:70662541-70662541 |
thyroid | carcinoma | Substitution - Missense |
c.1321G>A; p.D441N; 12:70684742-70684742 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1876G>A; p.D626N; 12:70656708-70656708 |
skin | malignant_melanoma | Substitution - Missense |
c.906C>A; p.V302V; 12:70745919-70745919 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1194G>A; p.M398I; 12:70701137-70701137 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1194G>A; p.M398I; 12:70701137-70701137 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.906C>A; p.V302V; 12:70745919-70745919 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1486G>T; p.E496*; 12:70684138-70684138 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1155C>T; p.D385D; 12:70701176-70701176 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.194G>A; p.S65N; 12:70892842-70892842 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.370G>A; p.D124N; 12:70764766-70764766 |
pancreas | carcinoma | Substitution - Missense |
c.1118C>T; p.S373L; 12:70701213-70701213 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.689C>T; p.A230V; 12:70754240-70754240 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1313delA; p.N438fs*2; 12:70684750-70684750 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.58G>T; p.G20W; 12:70920333-70920333 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1634A>T; p.K545M; 12:70661072-70661072 |
skin | malignant_melanoma | Substitution - Missense |
c.1622C>T; p.T541I; 12:70661084-70661084 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.747delC; p.Y249fs*1; 12:70746078-70746078 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.415G>A; p.G139R; 12:70764721-70764721 |
pancreas | carcinoma | Substitution - Missense |
c.1880G>A; p.R627K; 12:70656704-70656704 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1360-2A>T; p.?; 12:70684266-70684266 |
oesophagus | carcinoma | Unknown |
c.914C>T; p.P305L; 12:70745911-70745911 |
skin | malignant_melanoma | Substitution - Missense |
c.914C>T; p.P305L; 12:70745911-70745911 |
skin | malignant_melanoma | Substitution - Missense |
c.1014G>A; p.G338G; 12:70701317-70701317 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1592G>A; p.R531Q; 12:70662511-70662511 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.51C>T; p.H17H; 12:70920340-70920340 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1592G>A; p.R531Q; 12:70662511-70662511 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.581delT; p.L194fs*48; 12:70761517-70761517 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.812T>C; p.L271P; 12:70746013-70746013 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1934G>A; p.C645Y; 12:70639224-70639224 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1201C>A; p.P401T; 12:70698343-70698343 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.427G>A; p.A143T; 12:70764709-70764709 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.210C>T; p.S70S; 12:70892826-70892826 |
thyroid | other; neoplasm | Substitution - coding silent |
c.630A>C; p.K210N; 12:70754299-70754299 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.301G>T; p.G101C; 12:70892735-70892735 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.8G>A; p.R3K; 12:70920383-70920383 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1870C>T; p.R624C; 12:70656714-70656714 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1870C>T; p.R624C; 12:70656714-70656714 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1748C>A; p.P583H; 12:70660958-70660958 |
breast | carcinoma | Substitution - Missense |
c.1608+2T>C; p.?; 12:70662493-70662493 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.434G>A; p.G145E; 12:70764702-70764702 |
skin | malignant_melanoma | Substitution - Missense |
c.1395G>A; p.T465T; 12:70684229-70684229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1912G>T; p.E638*; 12:70639246-70639246 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.757G>T; p.E253*; 12:70746068-70746068 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1022T>C; p.V341A; 12:70701309-70701309 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.757G>T; p.E253*; 12:70746068-70746068 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.757G>T; p.E253*; 12:70746068-70746068 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.583C>A; p.H195N; 12:70761515-70761515 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.965G>T; p.C322F; 12:70745860-70745860 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.1154A>G; p.D385G; 12:70701177-70701177 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1154A>G; p.D385G; 12:70701177-70701177 |
stomach | adenocarcinoma | Substitution - Missense |
c.992T>C; p.I331T; 12:70745833-70745833 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.728C>T; p.T243M; 12:70754201-70754201 |
skin | malignant_melanoma | Substitution - Missense |
c.329C>A; p.P110Q; 12:70892707-70892707 |
skin | malignant_melanoma | Substitution - Missense |
c.505C>T; p.P169S; 12:70761593-70761593 |
skin | malignant_melanoma | Substitution - Missense |
c.922C>T; p.R308*; 12:70745903-70745903 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.922C>T; p.R308*; 12:70745903-70745903 |
large_intestine; colon | NS | Substitution - Nonsense |
c.922C>T; p.R308*; 12:70745903-70745903 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1971G>A; p.Q657Q; 12:70639187-70639187 |
pancreas | carcinoma | Substitution - coding silent |
c.274C>T; p.P92S; 12:70892762-70892762 |
skin | malignant_melanoma | Substitution - Missense |
c.1225G>A; p.E409K; 12:70698319-70698319 |
skin; back | malignant_melanoma | Substitution - Missense |
c.1352A>G; p.Y451C; 12:70684711-70684711 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.918A>T; p.Q306H; 12:70745907-70745907 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1279A>C; p.N427H; 12:70698265-70698265 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |