| Gene ID | 6582 |
| Symbol | SLC22A2 |
| Synonymous | OCT2 |
| Full name | solute carrier family 22 (organic cation transporter), member 2 |
| Gene description | organic cation transporter 2|solute carrier family 22 member 2 |
| Cytoband | 6q25.3 |
| Gene type | protein-coding |
| Synonymous | MIM:602608; HGNC:HGNC:10966; Ensembl:ENSG00000112499; HPRD:04008; Vega:OTTHUMG00000015950 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.363_364insC; p.C122fs*19; 6:160258394-160258395 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.12C>T; p.T4T; 6:160258746-160258746 |
skin | malignant_melanoma | Substitution - coding silent |
c.1164C>T; p.F388F; 6:160243687-160243687 |
skin | malignant_melanoma | Substitution - coding silent |
c.900G>A; p.M300I; 6:160247241-160247241 |
breast | carcinoma | Substitution - Missense |
c.870G>A; p.L290L; 6:160247271-160247271 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.938C>A; p.S313Y; 6:160247203-160247203 |
breast | carcinoma | Substitution - Missense |
c.474A>G; p.V158V; 6:160256658-160256658 |
skin | malignant_melanoma | Substitution - coding silent |
c.99C>T; p.F33F; 6:160258659-160258659 |
thyroid | carcinoma | Substitution - coding silent |
c.619C>T; p.R207C; 6:160250602-160250602 |
skin | malignant_melanoma | Substitution - Missense |
c.619C>T; p.R207C; 6:160250602-160250602 |
skin | malignant_melanoma | Substitution - Missense |
c.619C>T; p.R207C; 6:160250602-160250602 |
skin | malignant_melanoma | Substitution - Missense |
c.619C>T; p.R207C; 6:160250602-160250602 |
skin | malignant_melanoma | Substitution - Missense |
c.1280-2A>C; p.?; 6:160242404-160242404 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.946G>T; p.A316S; 6:160247195-160247195 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.15G>A; p.V5V; 6:160258743-160258743 |
skin | malignant_melanoma | Substitution - coding silent |
c.15G>A; p.V5V; 6:160258743-160258743 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1397G>C; p.G466A; 6:160241578-160241578 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.615T>G; p.I205M; 6:160250606-160250606 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1587C>A; p.A529A; 6:160224719-160224719 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1153C>T; p.L385L; 6:160243698-160243698 |
prostate | carcinoma | Substitution - coding silent |
c.1636C>T; p.Q546*; 6:160217464-160217464 |
skin | malignant_melanoma | Substitution - Nonsense |
c.372C>T; p.D124D; 6:160258386-160258386 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.372C>T; p.D124D; 6:160258386-160258386 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.723C>T; p.Y241Y; 6:160249335-160249335 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1596G>A; p.M532I; 6:160224710-160224710 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1487C>T; p.P496L; 6:160241488-160241488 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1582G>A; p.E528K; 6:160224724-160224724 |
skin | malignant_melanoma | Substitution - Missense |
c.1190C>T; p.T397I; 6:160243661-160243661 |
skin | malignant_melanoma | Substitution - Missense |
c.1487C>G; p.P496R; 6:160241488-160241488 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.731C>T; p.A244V; 6:160249327-160249327 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.72C>T; p.F24F; 6:160258686-160258686 |
skin | malignant_melanoma | Substitution - coding silent |
c.272G>A; p.R91H; 6:160258486-160258486 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.390G>T; p.T130T; 6:160258368-160258368 |
thyroid | other; neoplasm | Substitution - coding silent |
c.390G>T; p.T130T; 6:160258368-160258368 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.390G>T; p.T130T; 6:160258368-160258368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1101G>C; p.M367I; 6:160243750-160243750 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.519-3C>T; p.?; 6:160250705-160250705 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.480C>A; p.F160L; 6:160256652-160256652 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.533T>C; p.L178P; 6:160250688-160250688 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.526delC; p.R176fs*6; 6:160250695-160250695 |
breast | carcinoma | Deletion - Frameshift |
c.1316G>A; p.G439E; 6:160242366-160242366 |
skin | malignant_melanoma | Substitution - Missense |
c.487G>T; p.G163C; 6:160256645-160256645 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.405C>T; p.I135I; 6:160258353-160258353 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.304G>A; p.D102N; 6:160258454-160258454 |
skin | malignant_melanoma | Substitution - Missense |
c.1457A>G; p.Y486C; 6:160241518-160241518 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.155G>A; p.R52Q; 6:160258603-160258603 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1246G>C; p.A416P; 6:160243605-160243605 |
prostate | adenoma | Substitution - Missense |
c.605G>A; p.W202*; 6:160250616-160250616 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1297delA; p.I433fs*17; 6:160242385-160242385 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.389C>T; p.T130M; 6:160258369-160258369 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.186C>T; p.R62R; 6:160258572-160258572 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1048A>T; p.I350L; 6:160245455-160245455 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1212T>G; p.R404R; 6:160243639-160243639 |
skin | malignant_melanoma | Substitution - coding silent |
c.661G>A; p.G221S; 6:160250560-160250560 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1304T>C; p.I435T; 6:160242378-160242378 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.15G>T; p.V5V; 6:160258743-160258743 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.902G>C; p.R301T; 6:160247239-160247239 |
breast | carcinoma | Substitution - Missense |
c.367C>T; p.R123W; 6:160258391-160258391 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.367C>T; p.R123W; 6:160258391-160258391 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.995A>G; p.N332S; 6:160245508-160245508 |
skin | malignant_melanoma | Substitution - Missense |
c.235G>A; p.G79R; 6:160258523-160258523 |
skin | malignant_melanoma | Substitution - Missense |
c.938C>T; p.S313F; 6:160247203-160247203 |
skin | malignant_melanoma | Substitution - Missense |
c.679G>A; p.E227K; 6:160249379-160249379 |
breast | carcinoma | Substitution - Missense |
c.679G>A; p.E227K; 6:160249379-160249379 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.242C>T; p.A81V; 6:160258516-160258516 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.172G>A; p.E58K; 6:160258586-160258586 |
skin | malignant_melanoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.90G>A; p.S30S; 6:160258668-160258668 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.55C>T; p.Q19*; 6:160258703-160258703 |
skin | malignant_melanoma | Substitution - Nonsense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.314A>C; p.D105A; 6:160258444-160258444 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1565T>C; p.L522S; 6:160224741-160224741 |
pancreas | carcinoma | Substitution - Missense |
c.511G>A; p.A171T; 6:160256621-160256621 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.501C>T; p.I167I; 6:160256631-160256631 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.221C>T; p.T74M; 6:160258537-160258537 |
pancreas | carcinoma | Substitution - Missense |
c.221C>T; p.T74M; 6:160258537-160258537 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.221C>T; p.T74M; 6:160258537-160258537 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.385G>A; p.E129K; 6:160258373-160258373 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.385G>A; p.E129K; 6:160258373-160258373 |
skin | malignant_melanoma | Substitution - Missense |
c.674-10C>A; p.?; 6:160249394-160249394 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.40G>A; p.E14K; 6:160258718-160258718 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1179G>A; p.M393I; 6:160243672-160243672 |
skin | malignant_melanoma | Substitution - Missense |
c.288G>A; p.W96*; 6:160258470-160258470 |
skin | malignant_melanoma | Substitution - Nonsense |
c.771C>T; p.Y257Y; 6:160249287-160249287 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.458A>G; p.Q153R; 6:160256674-160256674 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1500C>T; p.F500F; 6:160241475-160241475 |
skin | malignant_melanoma | Substitution - coding silent |
c.398C>T; p.S133L; 6:160258360-160258360 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.405C>A; p.I135I; 6:160258353-160258353 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.467T>A; p.V156E; 6:160256665-160256665 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.961C>T; p.L321L; 6:160245542-160245542 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.864G>T; p.R288S; 6:160247277-160247277 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.849A>T; p.I283I; 6:160247292-160247292 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.669C>T; p.I223I; 6:160250552-160250552 |
skin | malignant_melanoma | Substitution - coding silent |
c.1207C>T; p.R403C; 6:160243644-160243644 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1578C>T; p.I526I; 6:160224728-160224728 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1207C>T; p.R403C; 6:160243644-160243644 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1207C>T; p.R403C; 6:160243644-160243644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.567A>T; p.A189A; 6:160250654-160250654 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1389G>A; p.R463R; 6:160241586-160241586 |
skin | malignant_melanoma | Substitution - coding silent |
c.1309T>C; p.C437R; 6:160242373-160242373 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.247G>A; p.E83K; 6:160258511-160258511 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.329T>G; p.L110R; 6:160258429-160258429 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.786G>T; p.W262C; 6:160249272-160249272 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.276C>T; p.Y92Y; 6:160258482-160258482 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1579G>A; p.E527K; 6:160224727-160224727 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.276C>T; p.Y92Y; 6:160258482-160258482 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1579G>A; p.E527K; 6:160224727-160224727 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.937T>C; p.S313P; 6:160247204-160247204 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1182C>T; p.I394I; 6:160243669-160243669 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.693G>A; p.R231R; 6:160249365-160249365 |
skin | malignant_melanoma | Substitution - coding silent |
c.862A>G; p.R288G; 6:160247279-160247279 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1247C>A; p.A416E; 6:160243604-160243604 |
oesophagus | carcinoma | Substitution - Missense |
c.18C>T; p.D6D; 6:160258740-160258740 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.468G>A; p.V156V; 6:160256664-160256664 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.673A>T; p.I225F; 6:160250548-160250548 |
ovary | other; neoplasm | Substitution - Missense |
c.18C>T; p.D6D; 6:160258740-160258740 |
pancreas | carcinoma | Substitution - coding silent |
c.673A>T; p.I225F; 6:160250548-160250548 |
ovary | other; neoplasm | Substitution - Missense |
c.189C>T; p.C63C; 6:160258569-160258569 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.983G>C; p.G328A; 6:160245520-160245520 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.897C>T; p.A299A; 6:160247244-160247244 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1488G>A; p.P496P; 6:160241487-160241487 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1383C>G; p.F461L; 6:160242299-160242299 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.959G>A; p.R320H; 6:160245544-160245544 |
prostate | carcinoma | Substitution - Missense |
c.226C>T; p.P76S; 6:160258532-160258532 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.399G>A; p.S133S; 6:160258359-160258359 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.340A>T; p.R114W; 6:160258418-160258418 |
liver | carcinoma | Substitution - Missense |
c.340A>T; p.R114W; 6:160258418-160258418 |
liver | carcinoma | Substitution - Missense |
c.163G>A; p.G55R; 6:160258595-160258595 |
skin | malignant_melanoma | Substitution - Missense |
c.163G>A; p.G55R; 6:160258595-160258595 |
skin | malignant_melanoma | Substitution - Missense |
c.323C>A; p.A108D; 6:160258435-160258435 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1140C>T; p.F380F; 6:160243711-160243711 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.258A>G; p.P86P; 6:160258500-160258500 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1280-1G>C; p.?; 6:160242403-160242403 |
urinary_tract; bladder | carcinoma | Unknown |
c.296G>A; p.S99N; 6:160258462-160258462 |
skin | malignant_melanoma | Substitution - Missense |
c.1654A>C; p.I552L; 6:160217446-160217446 |
liver | carcinoma | Substitution - Missense |
c.990A>G; p.K330K; 6:160245513-160245513 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.130G>A; p.G44S; 6:160258628-160258628 |
skin | malignant_melanoma | Substitution - Missense |
c.171C>T; p.A57A; 6:160258587-160258587 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.171C>T; p.A57A; 6:160258587-160258587 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1272A>G; p.I424M; 6:160243579-160243579 |
breast | carcinoma | Substitution - Missense |
c.1275T>C; p.P425P; 6:160243576-160243576 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1111C>T; p.L371F; 6:160243740-160243740 |
skin | malignant_melanoma | Substitution - Missense |
c.1402C>T; p.H468Y; 6:160241573-160241573 |
skin | malignant_melanoma | Substitution - Missense |
c.1044T>C; p.T348T; 6:160245459-160245459 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1348G>A; p.V450I; 6:160242334-160242334 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.184C>T; p.R62C; 6:160258574-160258574 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1159G>A; p.E387K; 6:160243692-160243692 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1159G>A; p.E387K; 6:160243692-160243692 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.481T>C; p.F161L; 6:160256651-160256651 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1588G>A; p.E530K; 6:160224718-160224718 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1208G>A; p.R403H; 6:160243643-160243643 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1208G>A; p.R403H; 6:160243643-160243643 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1182C>A; p.I394I; 6:160243669-160243669 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.875C>T; p.S292F; 6:160247266-160247266 |
skin | malignant_melanoma | Substitution - Missense |
c.1399G>A; p.V467I; 6:160241576-160241576 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1661T>G; p.L554W; 6:160217439-160217439 |
liver | carcinoma | Substitution - Missense |
c.1399G>A; p.V467I; 6:160241576-160241576 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1399G>A; p.V467I; 6:160241576-160241576 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1424A>G; p.D475G; 6:160241551-160241551 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1612A>C; p.N538H; 6:160217488-160217488 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1601G>T; p.R534I; 6:160224705-160224705 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1506G>A; p.V502V; 6:160224800-160224800 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1491G>A; p.L497L; 6:160241484-160241484 |
skin | malignant_melanoma | Substitution - coding silent |
c.285C>T; p.D95D; 6:160258473-160258473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1121A>G; p.D374G; 6:160243730-160243730 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.692G>A; p.R231Q; 6:160249366-160249366 |
breast | carcinoma | Substitution - Missense |
c.1437C>A; p.I479I; 6:160241538-160241538 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1195G>A; p.D399N; 6:160243656-160243656 |
NS | malignant_melanoma | Substitution - Missense |
c.1195G>A; p.D399N; 6:160243656-160243656 |
NS | malignant_melanoma | Substitution - Missense |
c.692G>A; p.R231Q; 6:160249366-160249366 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1352G>T; p.C451F; 6:160242330-160242330 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1557G>T; p.G519G; 6:160224749-160224749 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |