| Gene ID | 1559 |
| Symbol | CYP2C9 |
| Synonymous | CPC9|CYP2C|CYP2C10|CYPIIC9|P450IIC9 |
| Full name | cytochrome P450, family 2, subfamily C, polypeptide 9 |
| Gene description | cytochrome P-450 S-mephenytoin 4-hydroxylase|cytochrome P-450MP|cytochrome P450 2C9|cytochrome P450 PB-1|flavoprotein-linked monooxygenase|microsomal monooxygenase|xenobiotic monooxygenase |
| Cytoband | 10q24 |
| Gene type | protein-coding |
| Synonymous | MIM:601130; HGNC:HGNC:2623; Ensembl:ENSG00000138109; HPRD:03084; Vega:OTTHUMG00000018805 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.33C>G; p.L11L; 10:94938715-94938715 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.507C>T; p.I169I; 10:94947804-94947804 |
skin | malignant_melanoma | Substitution - coding silent |
c.691A>T; p.N231Y; 10:94949156-94949156 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.500C>T; p.T167I; 10:94947797-94947797 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1310G>A; p.G437E; 10:94988865-94988865 |
skin | malignant_melanoma | Substitution - Missense |
c.470_471insA; p.T159fs*7; 10:94942330-94942331 |
skin; neck | malignant_melanoma | Insertion - Frameshift |
c.820-1G>A; p.?; 10:94972103-94972103 |
skin | malignant_melanoma | Unknown |
c.1055T>G; p.V352G; 10:94981276-94981276 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.149T>G; p.I50S; 10:94938831-94938831 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.772A>G; p.N258D; 10:94949237-94949237 |
skin | malignant_melanoma | Substitution - Missense |
c.31C>A; p.L11I; 10:94938713-94938713 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.159C>T; p.S53S; 10:94938841-94938841 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.55C>T; p.L19F; 10:94938737-94938737 |
skin | malignant_melanoma | Substitution - Missense |
c.441G>A; p.E147E; 10:94942301-94942301 |
skin | malignant_melanoma | Substitution - coding silent |
c.601T>C; p.L201L; 10:94947898-94947898 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1147A>T; p.K383*; 10:94981368-94981368 |
skin | malignant_melanoma | Substitution - Nonsense |
c.674A>G; p.Y225C; 10:94949139-94949139 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.674A>G; p.Y225C; 10:94949139-94949139 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.411G>A; p.G137G; 10:94942271-94942271 |
skin | malignant_melanoma | Substitution - coding silent |
c.937C>T; p.L313L; 10:94972221-94972221 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1370A>G; p.N457S; 10:94988925-94988925 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1372C>T; p.L458L; 10:94988927-94988927 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1298G>A; p.R433Q; 10:94988853-94988853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.861G>A; p.L287L; 10:94972145-94972145 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - coding silent |
c.416G>A; p.R139K; 10:94942276-94942276 |
skin | malignant_melanoma | Substitution - Missense |
c.991A>T; p.I331F; 10:94981212-94981212 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1004G>A; p.R335Q; 10:94981225-94981225 |
skin | malignant_melanoma | Substitution - Missense |
c.1312G>A; p.E438K; 10:94988867-94988867 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1312G>A; p.E438K; 10:94988867-94988867 |
skin | malignant_melanoma | Substitution - Missense |
c.681G>A; p.P227P; 10:94949146-94949146 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1004G>A; p.R335Q; 10:94981225-94981225 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1005G>A; p.R335R; 10:94981226-94981226 |
skin | malignant_melanoma | Substitution - coding silent |
c.395G>A; p.R132Q; 10:94942255-94942255 |
skin | malignant_melanoma | Substitution - Missense |
c.777C>T; p.N259N; 10:94949242-94949242 |
skin | malignant_melanoma | Substitution - coding silent |
c.1275C>A; p.F425L; 10:94986158-94986158 |
liver | carcinoma | Substitution - Missense |
c.395G>A; p.R132Q; 10:94942255-94942255 |
skin | malignant_melanoma | Substitution - Missense |
c.766G>A; p.D256N; 10:94949231-94949231 |
skin | malignant_melanoma | Substitution - Missense |
c.766G>A; p.D256N; 10:94949231-94949231 |
skin | malignant_melanoma | Substitution - Missense |
c.1362G>A; p.Q454Q; 10:94988917-94988917 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.447_448CC>TT; p.R150C; 10:94942307-94942308 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659C>T; p.S220F; 10:94949124-94949124 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659C>T; p.S220F; 10:94949124-94949124 |
skin | malignant_melanoma | Substitution - Missense |
c.1395delG; p.N466fs*>25; 10:94988950-94988950 |
pleura | pulmonary_blastoma | Deletion - Frameshift |
c.317C>T; p.A106V; 10:94942006-94942006 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1268A>G; p.K423R; 10:94986151-94986151 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.936_937CC>TT; p.(=); 10:94972220-94972221 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.240T>C; p.Y80Y; 10:94941929-94941929 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1399C>A; p.L467I; 10:94988954-94988954 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.489C>T; p.P163P; 10:94947786-94947786 |
skin | malignant_melanoma | Substitution - coding silent |
c.1246G>T; p.G416C; 10:94986129-94986129 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.939G>A; p.L313L; 10:94972223-94972223 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.300C>T; p.F100F; 10:94941989-94941989 |
skin | malignant_melanoma | Substitution - coding silent |
c.1390C>T; p.P464S; 10:94988945-94988945 |
skin | malignant_melanoma | Substitution - Missense |
c.1166T>C; p.I389T; 10:94986049-94986049 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.15G>A; p.V5V; 10:94938697-94938697 |
skin | malignant_melanoma | Substitution - coding silent |
c.85C>T; p.L29F; 10:94938767-94938767 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.1189G>A; p.D397N; 10:94986072-94986072 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.556C>T; p.R186C; 10:94947853-94947853 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.31C>T; p.L11F; 10:94938713-94938713 |
skin | malignant_melanoma | Substitution - Missense |
c.453C>T; p.C151C; 10:94942313-94942313 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.836C>T; p.P279L; 10:94972120-94972120 |
skin | malignant_melanoma | Substitution - Missense |
c.836C>T; p.P279L; 10:94972120-94972120 |
skin | malignant_melanoma | Substitution - Missense |
c.728A>T; p.Y243F; 10:94949193-94949193 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1089C>A; p.P363P; 10:94981310-94981310 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.109C>T; p.P37S; 10:94938791-94938791 |
skin | malignant_melanoma | Substitution - Missense |
c.642G>A; p.Q214Q; 10:94947939-94947939 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.109C>T; p.P37S; 10:94938791-94938791 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1089C>A; p.P363P; 10:94981310-94981310 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.562G>C; p.D188H; 10:94947859-94947859 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1249G>A; p.G417S; 10:94986132-94986132 |
skin | malignant_melanoma | Substitution - Missense |
c.703delA; p.N236fs*5; 10:94949168-94949168 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.597A>C; p.E199D; 10:94947894-94947894 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.332-1G>A; p.?; 10:94942191-94942191 |
skin | malignant_melanoma | Unknown |
c.678C>T; p.F226F; 10:94949143-94949143 |
skin | malignant_melanoma | Substitution - coding silent |
c.1210C>A; p.P404T; 10:94986093-94986093 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.982G>A; p.E328K; 10:94981203-94981203 |
breast | carcinoma | Substitution - Missense |
c.1001A>G; p.N334S; 10:94981222-94981222 |
skin | malignant_melanoma | Substitution - Missense |
c.1060G>A; p.E354K; 10:94981281-94981281 |
oesophagus | carcinoma | Substitution - Missense |
c.899A>C; p.E300A; 10:94972183-94972183 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.899A>C; p.E300A; 10:94972183-94972183 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1173G>C; p.L391L; 10:94986056-94986056 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.466T>C; p.L156L; 10:94942326-94942326 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.937C>G; p.L313V; 10:94972221-94972221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1260G>A; p.K420K; 10:94986143-94986143 |
skin | malignant_melanoma | Substitution - coding silent |
c.1183C>T; p.L395L; 10:94986066-94986066 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.325G>A; p.G109R; 10:94942014-94942014 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1446C>T; p.F482F; 10:94989001-94989001 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.325G>A; p.G109R; 10:94942014-94942014 |
skin | malignant_melanoma | Substitution - Missense |
c.349G>A; p.G117R; 10:94942209-94942209 |
skin | malignant_melanoma | Substitution - Missense |
c.1461C>T; p.F487F; 10:94989016-94989016 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1461C>T; p.F487F; 10:94989016-94989016 |
skin | malignant_melanoma | Substitution - coding silent |
c.936C>T; p.L312L; 10:94972220-94972220 |
skin | malignant_melanoma | Substitution - coding silent |
c.403G>A; p.G135R; 10:94942263-94942263 |
skin | malignant_melanoma | Substitution - Missense |
c.636G>A; p.W212*; 10:94947933-94947933 |
skin | malignant_melanoma | Substitution - Nonsense |
c.925G>T; p.A309S; 10:94972209-94972209 |
skin | malignant_melanoma | Substitution - Missense |
c.653_654insG; p.N218fs*7; 10:94949118-94949119 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.236G>A; p.G79E; 10:94941925-94941925 |
breast | carcinoma | Substitution - Missense |
c.236G>A; p.G79E; 10:94941925-94941925 |
skin | malignant_melanoma | Substitution - Missense |
c.127C>T; p.L43L; 10:94938809-94938809 |
skin | malignant_melanoma | Substitution - coding silent |
c.935T>A; p.L312H; 10:94972219-94972219 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.371G>A; p.R124Q; 10:94942231-94942231 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1353C>T; p.S451S; 10:94988908-94988908 |
skin | malignant_melanoma | Substitution - coding silent |
c.87_88CC>TT; p.P30S; 10:94938769-94938770 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.594G>A; p.M198I; 10:94947891-94947891 |
skin | malignant_melanoma | Substitution - Missense |
c.804G>A; p.L268L; 10:94949269-94949269 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1324G>A; p.G442S; 10:94988879-94988879 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.497C>T; p.P166L; 10:94947794-94947794 |
skin | malignant_melanoma | Substitution - Missense |
c.1140C>T; p.L380L; 10:94981361-94981361 |
skin | malignant_melanoma | Substitution - coding silent |
c.454C>T; p.L152F; 10:94942314-94942314 |
skin | malignant_melanoma | Substitution - Missense |
c.978G>A; p.E326E; 10:94981199-94981199 |
skin; upper_arm | malignant_melanoma | Substitution - coding silent |
c.169-2A>T; p.?; 10:94941856-94941856 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1379C>A; p.S460Y; 10:94988934-94988934 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.531G>A; p.V177V; 10:94947828-94947828 |
skin | malignant_melanoma | Substitution - coding silent |
c.595G>A; p.E199K; 10:94947892-94947892 |
skin | malignant_melanoma | Substitution - Missense |
c.595G>A; p.E199K; 10:94947892-94947892 |
skin | malignant_melanoma | Substitution - Missense |
c.866A>G; p.N289S; 10:94972150-94972150 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.786C>T; p.D262D; 10:94949251-94949251 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1397A>G; p.N466S; 10:94988952-94988952 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4G>A; p.D2N; 10:94938686-94938686 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.825G>A; p.K275K; 10:94972109-94972109 |
skin | malignant_melanoma | Substitution - coding silent |
c.1169C>T; p.S390F; 10:94986052-94986052 |
skin | malignant_melanoma | Substitution - Missense |
c.1087C>T; p.P363S; 10:94981308-94981308 |
skin | malignant_melanoma | Substitution - Missense |
c.387G>A; p.M129I; 10:94942247-94942247 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6T>A; p.D2E; 10:94938688-94938688 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1348A>C; p.T450P; 10:94988903-94988903 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.263T>C; p.I88T; 10:94941952-94941952 |
thyroid | carcinoma | Substitution - Missense |
c.350G>A; p.G117E; 10:94942210-94942210 |
skin | malignant_melanoma | Substitution - Missense |
c.835C>T; p.P279S; 10:94972119-94972119 |
skin | malignant_melanoma | Substitution - Missense |
c.551A>G; p.H184R; 10:94947848-94947848 |
liver | carcinoma | Substitution - Missense |
c.1297C>T; p.R433W; 10:94988852-94988852 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1144delC; p.K383fs*6; 10:94981365-94981365 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1289C>T; p.A430V; 10:94986172-94986172 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.556C>A; p.R186S; 10:94947853-94947853 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.145G>T; p.D49Y; 10:94938827-94938827 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1331A>G; p.E444G; 10:94988886-94988886 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.80G>A; p.G27E; 10:94938762-94938762 |
skin | malignant_melanoma | Substitution - Missense |
c.43C>A; p.L15I; 10:94938725-94938725 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1331A>G; p.E444G; 10:94988886-94988886 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.80G>A; p.G27E; 10:94938762-94938762 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.126C>T; p.I42I; 10:94938808-94938808 |
skin | malignant_melanoma | Substitution - coding silent |
c.693C>A; p.N231K; 10:94949158-94949158 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.748G>A; p.E250K; 10:94949213-94949213 |
skin | malignant_melanoma | Substitution - Missense |
c.41T>C; p.L14S; 10:94938723-94938723 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.748G>A; p.E250K; 10:94949213-94949213 |
skin | malignant_melanoma | Substitution - Missense |
c.1129A>G; p.R377G; 10:94981350-94981350 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.548T>G; p.F183C; 10:94947845-94947845 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.928C>T; p.L310F; 10:94972212-94972212 |
skin | malignant_melanoma | Substitution - Missense |
c.389C>T; p.T130M; 10:94942249-94942249 |
prostate | carcinoma | Substitution - Missense |
c.75G>A; p.G25G; 10:94938757-94938757 |
skin | malignant_melanoma | Substitution - coding silent |
c.1330G>A; p.E444K; 10:94988885-94988885 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.930C>T; p.L310L; 10:94972214-94972214 |
skin | malignant_melanoma | Substitution - coding silent |
c.83A>T; p.K28I; 10:94938765-94938765 |
skin | malignant_melanoma | Substitution - Missense |
c.1026G>A; p.R342R; 10:94981247-94981247 |
skin | malignant_melanoma | Substitution - coding silent |
c.767A>C; p.D256A; 10:94949232-94949232 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1362G>T; p.Q454H; 10:94988917-94988917 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.643-2A>T; p.?; 10:94949106-94949106 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.643-2A>T; p.?; 10:94949106-94949106 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.1372C>G; p.L458V; 10:94988927-94988927 |
breast | carcinoma | Substitution - Missense |
c.1204C>T; p.P402S; 10:94986087-94986087 |
skin | malignant_melanoma | Substitution - Missense |
c.1204C>T; p.P402S; 10:94986087-94986087 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.554A>C; p.K185T; 10:94947851-94947851 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.268C>G; p.L90V; 10:94941957-94941957 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.984A>G; p.E328E; 10:94981205-94981205 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.253G>A; p.E85K; 10:94941942-94941942 |
skin | malignant_melanoma | Substitution - Missense |
c.1381C>T; p.L461L; 10:94988936-94988936 |
skin | malignant_melanoma | Substitution - coding silent |
c.253G>A; p.E85K; 10:94941942-94941942 |
skin | malignant_melanoma | Substitution - Missense |
c.205T>G; p.F69V; 10:94941894-94941894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.53C>T; p.S18L; 10:94938735-94938735 |
skin | malignant_melanoma | Substitution - Missense |
c.1021G>T; p.D341Y; 10:94981242-94981242 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1175C>T; p.T392I; 10:94986058-94986058 |
skin | malignant_melanoma | Substitution - Missense |
c.3G>A; p.M1I; 10:94938685-94938685 |
skin | malignant_melanoma | Substitution - Missense |
c.3G>A; p.M1I; 10:94938685-94938685 |
skin | malignant_melanoma | Substitution - Missense |
c.3G>A; p.M1I; 10:94938685-94938685 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.113T>C; p.V38A; 10:94938795-94938795 |
skin | malignant_melanoma | Substitution - Missense |
c.1472G>A; p.*491*; 10:94989027-94989027 |
skin | malignant_melanoma | Substitution - coding silent |
c.1204C>A; p.P402T; 10:94986087-94986087 |
liver | carcinoma | Substitution - Missense |
c.1470C>A; p.V490V; 10:94989025-94989025 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - coding silent |
c.820G>A; p.E274K; 10:94972104-94972104 |
skin | malignant_melanoma | Substitution - Missense |
c.807G>A; p.M269I; 10:94949272-94949272 |
skin | malignant_melanoma | Substitution - Missense |
c.1206C>T; p.P402P; 10:94986089-94986089 |
skin | malignant_melanoma | Substitution - coding silent |
c.781C>G; p.Q261E; 10:94949246-94949246 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.781C>G; p.Q261E; 10:94949246-94949246 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1332G>C; p.E444D; 10:94988887-94988887 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.308C>T; p.A103V; 10:94941997-94941997 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.62G>A; p.R21K; 10:94938744-94938744 |
large_intestine; colon | adenoma | Substitution - Missense |
c.1292G>A; p.G431E; 10:94988847-94988847 |
skin | malignant_melanoma | Substitution - Missense |
c.301C>T; p.P101S; 10:94941990-94941990 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.35C>T; p.S12L; 10:94938717-94938717 |
skin | malignant_melanoma | Substitution - Missense |
c.1292G>A; p.G431E; 10:94988847-94988847 |
skin | malignant_melanoma | Substitution - Missense |
c.970C>T; p.Q324*; 10:94981191-94981191 |
skin | malignant_melanoma | Substitution - Nonsense |
c.261G>A; p.L87L; 10:94941950-94941950 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8C>A; p.S3Y; 10:94938690-94938690 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.364G>A; p.E122K; 10:94942224-94942224 |
skin | malignant_melanoma | Substitution - Missense |
c.87C>T; p.L29L; 10:94938769-94938769 |
skin | malignant_melanoma | Substitution - coding silent |