| Gene ID | 9817 |
| Symbol | KEAP1 |
| Synonymous | INrf2|KLHL19 |
| Full name | kelch-like ECH-associated protein 1 |
| Gene description | cytosolic inhibitor of Nrf2|kelch-like family member 19|kelch-like protein 19 |
| Cytoband | 19p13.2 |
| Gene type | protein-coding |
| Synonymous | MIM:606016; HGNC:HGNC:23177; Ensembl:ENSG00000079999; HPRD:12079; Vega:OTTHUMG00000180579 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.73G>A; p.E25K; 19:10499961-10499961 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1090G>A; p.G364S; 19:10491812-10491812 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.946_951delGTGATG; p.V316_M317delVM; 19:10491951-10491956 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.803T>C; p.L268P; 19:10492099-10492099 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1249G>A; p.G417R; 19:10491653-10491653 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.815G>A; p.R272H; 19:10492087-10492087 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.932A>C; p.H311P; 19:10491970-10491970 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1423G>C; p.V475L; 19:10489756-10489756 |
skin | malignant_melanoma | Substitution - Missense |
c.997G>A; p.G333S; 19:10491905-10491905 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.671C>A; p.S224Y; 19:10492231-10492231 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1525G>T; p.G509W; 19:10489654-10489654 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.505C>T; p.R169C; 19:10499529-10499529 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1761_1762insT; p.T588fs*31; 19:10486765-10486766 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.779G>T; p.R260L; 19:10492123-10492123 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.93G>A; p.V31V; 19:10499941-10499941 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1532-2A>G; p.?; 19:10489370-10489370 |
lung | carcinoma; adenocarcinoma | Unknown |
c.457C>T; p.L153F; 19:10499577-10499577 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1611C>T; p.Y537Y; 19:10489289-10489289 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1760A>G; p.D587G; 19:10486767-10486767 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.466A>T; p.M156L; 19:10499568-10499568 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.977G>A; p.R326H; 19:10491925-10491925 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1330G>T; p.E444*; 19:10489849-10489849 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1508T>A; p.M503K; 19:10489671-10489671 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1264G>A; p.D422N; 19:10491638-10491638 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.285C>A; p.A95A; 19:10499749-10499749 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1264G>A; p.D422N; 19:10491638-10491638 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1264G>A; p.D422N; 19:10491638-10491638 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.706G>A; p.D236N; 19:10492196-10492196 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.706G>A; p.D236N; 19:10492196-10492196 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.474T>C; p.G158G; 19:10499560-10499560 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1000T>C; p.Y334H; 19:10491902-10491902 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.1165G>T; p.D389Y; 19:10491737-10491737 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.161A>G; p.Y54C; 19:10499873-10499873 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1708+2T>A; p.?; 19:10489190-10489190 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.652G>C; p.E218Q; 19:10492250-10492250 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.133T>C; p.S45P; 19:10499901-10499901 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.283G>A; p.A95T; 19:10499751-10499751 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.652G>C; p.E218Q; 19:10492250-10492250 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.652G>C; p.E218Q; 19:10492250-10492250 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1103G>A; p.C368Y; 19:10491799-10491799 |
liver | carcinoma | Substitution - Missense |
c.1164C>G; p.T388T; 19:10491738-10491738 |
ovary | other; neoplasm | Substitution - coding silent |
c.1447C>A; p.R483S; 19:10489732-10489732 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1408C>T; p.R470C; 19:10489771-10489771 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1408C>T; p.R470C; 19:10489771-10489771 |
skin | malignant_melanoma | Substitution - Missense |
c.1408C>T; p.R470C; 19:10489771-10489771 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.567C>G; p.N189K; 19:10499467-10499467 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1408C>T; p.R470C; 19:10489771-10489771 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1408C>T; p.R470C; 19:10489771-10489771 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1408C>T; p.R470C; 19:10489771-10489771 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.330G>A; p.M110I; 19:10499704-10499704 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1479G>C; p.E493D; 19:10489700-10489700 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523delC; p.L175fs*55; 19:10499511-10499511 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.532C>T; p.Q178*; 19:10499502-10499502 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Nonsense |
c.399G>A; p.M133I; 19:10499635-10499635 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.132C>T; p.P44P; 19:10499902-10499902 |
skin | malignant_melanoma | Substitution - coding silent |
c.1554_1555insT; p.I519fs*8; 19:10489345-10489346 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.444C>T; p.G148G; 19:10499590-10499590 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.554T>A; p.I185N; 19:10499480-10499480 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.44G>T; p.R15L; 19:10499990-10499990 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1650G>A; p.M550I; 19:10489250-10489250 |
pancreas | carcinoma | Substitution - Missense |
c.1048G>A; p.G350S; 19:10491854-10491854 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1268G>T; p.G423V; 19:10491634-10491634 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.932A>G; p.H311R; 19:10491970-10491970 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.471C>T; p.N157N; 19:10499563-10499563 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.738C>G; p.F246L; 19:10492164-10492164 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.958C>T; p.R320W; 19:10491944-10491944 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.305C>T; p.S102L; 19:10499729-10499729 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.859A>T; p.K287*; 19:10492043-10492043 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.958C>T; p.R320W; 19:10491944-10491944 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1409G>A; p.R470H; 19:10489770-10489770 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1409G>A; p.R470H; 19:10489770-10489770 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.134C>A; p.S45Y; 19:10499900-10499900 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1413C>G; p.L471L; 19:10489766-10489766 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1413C>G; p.L471L; 19:10489766-10489766 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1413C>G; p.L471L; 19:10489766-10489766 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1632G>T; p.W544C; 19:10489268-10489268 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499G>T; p.V167F; 19:10499535-10499535 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.212G>T; p.R71L; 19:10499822-10499822 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.140A>G; p.H47R; 19:10499894-10499894 |
liver | carcinoma | Substitution - Missense |
c.140A>G; p.H47R; 19:10499894-10499894 |
liver | carcinoma | Substitution - Missense |
c.691C>G; p.L231V; 19:10492211-10492211 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1751A>G; p.Y584C; 19:10486776-10486776 |
liver | carcinoma | Substitution - Missense |
c.1751A>G; p.Y584C; 19:10486776-10486776 |
liver | carcinoma | Substitution - Missense |
c.25G>A; p.G9R; 19:10500009-10500009 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1226T>C; p.M409T; 19:10491676-10491676 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.340G>T; p.G114W; 19:10499694-10499694 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.425C>T; p.T142M; 19:10499609-10499609 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.425C>T; p.T142M; 19:10499609-10499609 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1189_1191delAAC; p.N397delN; 19:10491711-10491713 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.730G>A; p.E244K; 19:10492172-10492172 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.271G>T; p.A91S; 19:10499763-10499763 |
pancreas | carcinoma | Substitution - Missense |
c.862T>C; p.C288R; 19:10492040-10492040 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1085G>A; p.R362Q; 19:10491817-10491817 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.271G>T; p.A91S; 19:10499763-10499763 |
pancreas | carcinoma | Substitution - Missense |
c.1807G>T; p.G603W; 19:10486720-10486720 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1807G>T; p.G603W; 19:10486720-10486720 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.328A>G; p.M110V; 19:10499706-10499706 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.554T>C; p.I185T; 19:10499480-10499480 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.793C>T; p.Q265*; 19:10492109-10492109 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.722G>A; p.C241Y; 19:10492180-10492180 |
liver | carcinoma | Substitution - Missense |
c.793C>T; p.Q265*; 19:10492109-10492109 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.722G>A; p.C241Y; 19:10492180-10492180 |
liver | carcinoma | Substitution - Missense |
c.10G>C; p.D4H; 19:10500024-10500024 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.389C>T; p.P130L; 19:10499645-10499645 |
skin | malignant_melanoma | Substitution - Missense |
c.246G>A; p.Q82Q; 19:10499788-10499788 |
breast | carcinoma; HER-positive_carcinoma | Substitution - coding silent |
c.1801C>T; p.R601W; 19:10486726-10486726 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1436A>G; p.D479G; 19:10489743-10489743 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1220C>T; p.A407V; 19:10491682-10491682 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.706G>C; p.D236H; 19:10492196-10492196 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.706G>C; p.D236H; 19:10492196-10492196 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.187G>A; p.A63T; 19:10499847-10499847 |
liver | carcinoma | Substitution - Missense |
c.187G>A; p.A63T; 19:10499847-10499847 |
liver | carcinoma | Substitution - Missense |
c.1356_1357insA; p.V453fs*27; 19:10489822-10489823 |
breast | carcinoma | Insertion - Frameshift |
c.144C>A; p.G48G; 19:10499890-10499890 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1833G>C; p.E611D; 19:10486694-10486694 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.557G>T; p.G186V; 19:10499477-10499477 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.850C>T; p.Q284*; 19:10492052-10492052 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.747delC; p.C249fs*1; 19:10492155-10492155 |
liver | carcinoma | Deletion - Frameshift |
c.846G>A; p.Q282Q; 19:10492056-10492056 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.160T>G; p.Y54D; 19:10499874-10499874 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1628C>T; p.T543M; 19:10489272-10489272 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.839T>A; p.F280Y; 19:10492063-10492063 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.929T>C; p.L310P; 19:10491973-10491973 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.958_959CG>TA; p.R320>?; 19:10491943-10491944 |
lung | carcinoma; adenocarcinoma | Complex |
c.1609T>C; p.Y537H; 19:10489291-10489291 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.367G>T; p.V123L; 19:10499667-10499667 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1006C>T; p.R336*; 19:10491896-10491896 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.761A>C; p.K254T; 19:10492141-10492141 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.464T>C; p.V155A; 19:10499570-10499570 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.851A>T; p.Q284L; 19:10492051-10492051 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.129G>A; p.T43T; 19:10499905-10499905 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.223C>T; p.Q75*; 19:10499811-10499811 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.571G>A; p.A191T; 19:10499463-10499463 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.413A>C; p.E138A; 19:10499621-10499621 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.618C>T; p.Y206Y; 19:10499416-10499416 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1353delC; p.L452fs*6; 19:10489826-10489826 |
breast | carcinoma | Deletion - Frameshift |
c.742G>A; p.A248T; 19:10492160-10492160 |
liver | carcinoma | Substitution - Missense |
c.742G>A; p.A248T; 19:10492160-10492160 |
liver | carcinoma | Substitution - Missense |
c.1252G>T; p.V418L; 19:10491650-10491650 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1519C>T; p.R507*; 19:10489660-10489660 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.403C>T; p.R135C; 19:10499631-10499631 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.492C>T; p.I164I; 19:10499542-10499542 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - coding silent |
c.492C>T; p.I164I; 19:10499542-10499542 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1376G>A; p.R459Q; 19:10489803-10489803 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.58C>T; p.Q20*; 19:10499976-10499976 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1250G>A; p.G417E; 19:10491652-10491652 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1252G>A; p.V418M; 19:10491650-10491650 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.746G>A; p.C249Y; 19:10492156-10492156 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.709C>A; p.L237M; 19:10492193-10492193 |
oesophagus | carcinoma | Substitution - Missense |
c.1379G>T; p.R460M; 19:10489800-10489800 |
liver | carcinoma | Substitution - Missense |
c.475G>C; p.A159P; 19:10499559-10499559 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1090G>T; p.G364C; 19:10491812-10491812 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.24C>T; p.S8S; 19:10500010-10500010 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.805C>T; p.R269W; 19:10492097-10492097 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.24C>T; p.S8S; 19:10500010-10500010 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.912C>G; p.I304M; 19:10491990-10491990 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1516A>G; p.I506V; 19:10489663-10489663 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.373A>G; p.I125V; 19:10499661-10499661 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.68G>A; p.C23Y; 19:10499966-10499966 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.811G>A; p.V271M; 19:10492091-10492091 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1509G>T; p.M503I; 19:10489670-10489670 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.347G>C; p.R116P; 19:10499687-10499687 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.120G>A; p.A40A; 19:10499914-10499914 |
pancreas | carcinoma | Substitution - coding silent |
c.953C>T; p.P318L; 19:10491949-10491949 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.120G>A; p.A40A; 19:10499914-10499914 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1752delC; p.Y584fs*1; 19:10486775-10486775 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.498C>T; p.S166S; 19:10499536-10499536 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.959G>A; p.R320Q; 19:10491943-10491943 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1579_1580GG>TT; p.G527F; 19:10489320-10489321 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.136C>T; p.Q46*; 19:10499898-10499898 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1345G>T; p.E449*; 19:10489834-10489834 |
breast | carcinoma | Substitution - Nonsense |
c.1345G>T; p.E449*; 19:10489834-10489834 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1083G>A; p.P361P; 19:10491819-10491819 |
pancreas | carcinoma | Substitution - coding silent |
c.1380G>T; p.R460S; 19:10489799-10489799 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1380G>T; p.R460S; 19:10489799-10489799 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.463G>T; p.V155F; 19:10499571-10499571 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454_455GT>AA; p.V152N; 19:10499579-10499580 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.463G>T; p.V155F; 19:10499571-10499571 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.315T>C; p.P105P; 19:10499719-10499719 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.611G>C; p.R204P; 19:10499423-10499423 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.417C>A; p.F139L; 19:10499617-10499617 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1565C>T; p.A522V; 19:10489335-10489335 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.291G>T; p.K97N; 19:10499743-10499743 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.103_104TC>AT; p.S35I; 19:10499930-10499931 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1570G>T; p.G524C; 19:10489330-10489330 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.779G>A; p.R260Q; 19:10492123-10492123 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.779G>A; p.R260Q; 19:10492123-10492123 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1570G>T; p.G524C; 19:10489330-10489330 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.493G>A; p.D165N; 19:10499541-10499541 |
breast | carcinoma | Substitution - Missense |
c.493G>A; p.D165N; 19:10499541-10499541 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.640G>A; p.V214M; 19:10492262-10492262 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1666G>T; p.A556S; 19:10489234-10489234 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.939delC; p.T314fs*3; 19:10491963-10491963 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.100G>A; p.A34T; 19:10499934-10499934 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.349G>A; p.E117K; 19:10499685-10499685 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1105G>C; p.V369L; 19:10491797-10491797 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1661G>A; p.R554Q; 19:10489239-10489239 |
liver | carcinoma | Substitution - Missense |
c.778C>T; p.R260*; 19:10492124-10492124 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1661G>A; p.R554Q; 19:10489239-10489239 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1622C>T; p.T541I; 19:10489278-10489278 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.135C>A; p.S45S; 19:10499899-10499899 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.314delC; p.P105fs*52; 19:10499720-10499720 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.1447C>T; p.R483C; 19:10489732-10489732 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.431C>T; p.S144F; 19:10499603-10499603 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1429G>A; p.G477S; 19:10489750-10489750 |
thyroid | carcinoma | Substitution - Missense |
c.1777G>T; p.E593*; 19:10486750-10486750 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.1490G>T; p.W497L; 19:10489689-10489689 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1735G>T; p.D579Y; 19:10486792-10486792 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.756G>T; p.W252C; 19:10492146-10492146 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1479G>A; p.E493E; 19:10489700-10489700 |
skin | malignant_melanoma | Substitution - coding silent |
c.1255G>T; p.G419W; 19:10491647-10491647 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1777G>A; p.E593K; 19:10486750-10486750 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.287A>T; p.H96L; 19:10499747-10499747 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1677C>T; p.I559I; 19:10489223-10489223 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.997G>T; p.G333C; 19:10491905-10491905 |
lung | carcinoma | Substitution - Missense |
c.1378A>G; p.R460G; 19:10489801-10489801 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.997G>T; p.G333C; 19:10491905-10491905 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.832C>T; p.P278S; 19:10492070-10492070 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.997G>T; p.G333C; 19:10491905-10491905 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.904_905insG; p.V302fs*48; 19:10491997-10491998 |
skin; upper_leg | malignant_melanoma | Insertion - Frameshift |
c.149G>A; p.R50H; 19:10499885-10499885 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.483G>A; p.M161I; 19:10499551-10499551 |
liver | carcinoma | Substitution - Missense |
c.1438G>T; p.G480W; 19:10489741-10489741 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1438G>T; p.G480W; 19:10489741-10489741 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.653A>T; p.E218V; 19:10492249-10492249 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.653A>T; p.E218V; 19:10492249-10492249 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.149G>A; p.R50H; 19:10499885-10499885 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1438G>T; p.G480W; 19:10489741-10489741 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.556G>A; p.G186S; 19:10499478-10499478 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.728C>G; p.S243C; 19:10492174-10492174 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1284C>T; p.V428V; 19:10491618-10491618 |
pancreas | NS | Substitution - coding silent |
c.134C>T; p.S45F; 19:10499900-10499900 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1243C>T; p.R415C; 19:10491659-10491659 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1715A>G; p.Y572C; 19:10486812-10486812 |
oesophagus | carcinoma | Substitution - Missense |
c.1381A>G; p.I461V; 19:10489798-10489798 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1715A>G; p.Y572C; 19:10486812-10486812 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.234C>T; p.D78D; 19:10499800-10499800 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.948G>A; p.V316V; 19:10491954-10491954 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.948G>A; p.V316V; 19:10491954-10491954 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1674G>A; p.G558G; 19:10489226-10489226 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.782G>C; p.R261P; 19:10492120-10492120 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1250G>T; p.G417V; 19:10491652-10491652 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.805delC; p.R269fs*8; 19:10492097-10492097 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.970G>A; p.V324M; 19:10491932-10491932 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.572C>A; p.A191D; 19:10499462-10499462 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1537T>A; p.C513S; 19:10489363-10489363 |
ovary | other; neoplasm | Substitution - Missense |
c.847A>C; p.M283L; 19:10492055-10492055 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1607G>A; p.R536H; 19:10489293-10489293 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1113C>T; p.G371G; 19:10491789-10491789 |
liver | carcinoma | Substitution - coding silent |
c.1607G>A; p.R536H; 19:10489293-10489293 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1113C>T; p.G371G; 19:10491789-10491789 |
liver | carcinoma | Substitution - coding silent |
c.1464G>T; p.E488D; 19:10489715-10489715 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1663A>T; p.S555C; 19:10489237-10489237 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.959G>C; p.R320P; 19:10491943-10491943 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.422A>T; p.Y141F; 19:10499612-10499612 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1630T>C; p.W544R; 19:10489270-10489270 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.299T>C; p.L100P; 19:10499735-10499735 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>A; p.P278Q; 19:10492069-10492069 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.584G>T; p.G195V; 19:10499450-10499450 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1687C>G; p.Q563E; 19:10489213-10489213 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.346C>T; p.R116W; 19:10499688-10499688 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.88G>A; p.A30T; 19:10499946-10499946 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.579G>C; p.Q193H; 19:10499455-10499455 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1454A>G; p.N485S; 19:10489725-10489725 |
oesophagus | carcinoma | Substitution - Missense |
c.295G>T; p.V99L; 19:10499739-10499739 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.579G>C; p.Q193H; 19:10499455-10499455 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.815G>C; p.R272P; 19:10492087-10492087 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1061G>T; p.R354L; 19:10491841-10491841 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.833C>G; p.P278R; 19:10492069-10492069 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1392C>T; p.G464G; 19:10489787-10489787 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.218G>T; p.S73I; 19:10499816-10499816 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1408C>A; p.R470S; 19:10489771-10489771 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1408C>A; p.R470S; 19:10489771-10489771 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.422A>G; p.Y141C; 19:10499612-10499612 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |