| Gene ID | 4646 |
| Symbol | MYO6 |
| Synonymous | DFNA22|DFNB37 |
| Full name | myosin VI |
| Gene description | myosin-VI|unconventional myosin-6|unconventional myosin-VI |
| Cytoband | 6q13 |
| Gene type | protein-coding |
| Synonymous | MIM:600970; HGNC:HGNC:7605; Ensembl:ENSG00000196586; HPRD:02985; Vega:OTTHUMG00000015061 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.271G>A; p.A91T; 6:75830425-75830425 |
central_nervous_system; brain | atypical_teratoid-rhabdoid_tumour | Substitution - Missense |
c.1871C>T; p.S624F; 6:75867032-75867032 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1336G>A; p.E446K; 6:75857209-75857209 |
skin | malignant_melanoma | Substitution - Missense |
c.2317G>A; p.D773N; 6:75881719-75881719 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3533C>T; p.P1178L; 6:75914156-75914156 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3337C>T; p.H1113Y; 6:75908552-75908552 |
skin | malignant_melanoma | Substitution - Missense |
c.2526G>T; p.K842N; 6:75886862-75886862 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3413-1G>T; p.?; 6:75911671-75911671 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1044A>C; p.G348G; 6:75848497-75848497 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2287-4C>T; p.?; 6:75881685-75881685 |
pancreas | carcinoma | Unknown |
c.3815G>A; p.R1272Q; 6:75914969-75914969 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.346C>A; p.Q116K; 6:75830500-75830500 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3838C>G; p.L1280V; 6:75914992-75914992 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3226G>T; p.D1076Y; 6:75907654-75907654 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3838C>G; p.L1280V; 6:75914992-75914992 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1534C>T; p.Q512*; 6:75861083-75861083 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.1713C>G; p.I571M; 6:75866564-75866564 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2392T>C; p.W798R; 6:75881794-75881794 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.529G>T; p.D177Y; 6:75835932-75835932 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2783G>A; p.R928H; 6:75890181-75890181 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3704G>T; p.G1235V; 6:75914858-75914858 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2783G>A; p.R928H; 6:75890181-75890181 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.584C>A; p.A195E; 6:75840615-75840615 |
NS | NS | Substitution - Missense |
c.1279G>A; p.V427M; 6:75857152-75857152 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3137+1G>A; p.?; 6:75895261-75895261 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.2079G>A; p.G693G; 6:75879821-75879821 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3386G>A; p.R1129H; 6:75908601-75908601 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3386G>A; p.R1129H; 6:75908601-75908601 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.733T>C; p.Y245H; 6:75841295-75841295 |
thyroid | carcinoma | Substitution - Missense |
c.1776G>A; p.Q592Q; 6:75866937-75866937 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2034C>T; p.H678H; 6:75873257-75873257 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1395T>G; p.H465Q; 6:75858915-75858915 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1474-1G>C; p.?; 6:75861022-75861022 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.2752C>T; p.Q918*; 6:75890150-75890150 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.2280T>A; p.P760P; 6:75880114-75880114 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.343T>C; p.Y115H; 6:75830497-75830497 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3718C>T; p.R1240C; 6:75914872-75914872 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.211G>T; p.A71S; 6:75828563-75828563 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1361T>A; p.V454D; 6:75857234-75857234 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.814C>T; p.R272W; 6:75841376-75841376 |
skin | malignant_melanoma | Substitution - Missense |
c.2742_2743insA; p.Q918fs*24; 6:75890140-75890141 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.117+3G>A; p.?; 6:75817667-75817667 |
liver | carcinoma | Unknown |
c.176T>C; p.V59A; 6:75822840-75822840 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2742_2743insA; p.Q918fs*24; 6:75890140-75890141 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2742_2743insA; p.Q918fs*24; 6:75890140-75890141 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2742_2743insA; p.Q918fs*24; 6:75890140-75890141 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2742_2743insA; p.Q918fs*24; 6:75890140-75890141 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2742_2743insA; p.Q918fs*24; 6:75890140-75890141 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2939G>A; p.R980H; 6:75891299-75891299 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.187T>C; p.C63R; 6:75822851-75822851 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1579_1593del15; p.D527_E531delDILDE; 6:75862628-75862642 |
oesophagus | carcinoma; adenocarcinoma | Deletion - In frame |
c.776T>C; p.I259T; 6:75841338-75841338 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1720G>A; p.D574N; 6:75866571-75866571 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.2152T>C; p.Y718H; 6:75879894-75879894 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2595C>T; p.P865P; 6:75886931-75886931 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3713G>A; p.R1238Q; 6:75914867-75914867 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1999C>T; p.R667C; 6:75873222-75873222 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3713G>A; p.R1238Q; 6:75914867-75914867 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1255G>A; p.A419T; 6:75857128-75857128 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.966G>A; p.T322T; 6:75848419-75848419 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.323C>T; p.S108F; 6:75830477-75830477 |
skin | malignant_melanoma | Substitution - Missense |
c.3091G>T; p.D1031Y; 6:75892674-75892674 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2470A>G; p.I824V; 6:75886057-75886057 |
liver | carcinoma | Substitution - Missense |
c.2470A>G; p.I824V; 6:75886057-75886057 |
liver | carcinoma | Substitution - Missense |
c.3530G>T; p.R1177L; 6:75914153-75914153 |
liver | carcinoma | Substitution - Missense |
c.513C>T; p.S171S; 6:75835916-75835916 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3530G>T; p.R1177L; 6:75914153-75914153 |
liver | carcinoma | Substitution - Missense |
c.243T>C; p.Y81Y; 6:75828595-75828595 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.639T>A; p.H213Q; 6:75840670-75840670 |
skin | malignant_melanoma | Substitution - Missense |
c.3802A>G; p.S1268G; 6:75914956-75914956 |
liver | carcinoma | Substitution - Missense |
c.2900A>G; p.E967G; 6:75891260-75891260 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2696A>G; p.Y899C; 6:75890094-75890094 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3487G>A; p.E1163K; 6:75914110-75914110 |
breast | carcinoma | Substitution - Missense |
c.3848_3849insT; p.L1284fs*>3; 6:75915002-75915003 |
central_nervous_system; brainstem | glioma; oligoastrocytoma_Grade_III | Insertion - Frameshift |
c.3281A>G; p.D1094G; 6:75908496-75908496 |
liver | carcinoma | Substitution - Missense |
c.3019C>T; p.R1007C; 6:75892602-75892602 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2399C>G; p.S800*; 6:75881801-75881801 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.2399C>G; p.S800*; 6:75881801-75881801 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2743_2744insA; p.Q918fs*24; 6:75890141-75890142 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.3082G>A; p.A1028T; 6:75892665-75892665 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1017G>A; p.R339R; 6:75848470-75848470 |
skin | malignant_melanoma | Substitution - coding silent |
c.2269delT; p.F758fs*13; 6:75880103-75880103 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1558G>A; p.A520T; 6:75862607-75862607 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.196A>T; p.M66L; 6:75828548-75828548 |
breast | carcinoma | Substitution - Missense |
c.3383_3384delAA; p.Q1128fs*8; 6:75908598-75908599 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.2474G>A; p.R825Q; 6:75886061-75886061 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2103_2104GC>AT; p.M701_Q702>I*; 6:75879845-75879846 |
oesophagus | carcinoma; adenocarcinoma | Complex - compound substitution |
c.863_866delACAA; p.K289fs*17; 6:75844943-75844946 |
breast | carcinoma | Deletion - Frameshift |
c.3091G>A; p.D1031N; 6:75892674-75892674 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3444G>A; p.Q1148Q; 6:75914067-75914067 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.99C>G; p.P33P; 6:75817646-75817646 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2531G>A; p.G844D; 6:75886867-75886867 |
breast | carcinoma | Substitution - Missense |
c.3386_3397del12; p.R1129_S1133>P; 6:75908601-75908612 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Complex - deletion inframe |
c.2137G>T; p.E713*; 6:75879879-75879879 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.553+2T>C; p.?; 6:75835958-75835958 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.2187G>T; p.L729F; 6:75879929-75879929 |
liver | carcinoma | Substitution - Missense |
c.3841C>T; p.Q1281*; 6:75914995-75914995 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1112C>T; p.S371F; 6:75855172-75855172 |
skin | malignant_melanoma | Substitution - Missense |
c.3436T>G; p.S1146A; 6:75911695-75911695 |
kidney | other; neoplasm | Substitution - Missense |
c.3566A>C; p.K1189T; 6:75914189-75914189 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3603G>A; p.W1201*; 6:75914226-75914226 |
pancreas | carcinoma | Substitution - Nonsense |
c.1720G>C; p.D574H; 6:75866571-75866571 |
breast | carcinoma | Substitution - Missense |
c.7G>A; p.D3N; 6:75817554-75817554 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3529C>T; p.R1177C; 6:75914152-75914152 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3497G>T; p.R1166L; 6:75914120-75914120 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.707G>A; p.C236Y; 6:75841269-75841269 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.988G>A; p.D330N; 6:75848441-75848441 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.705C>T; p.I235I; 6:75841267-75841267 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1680C>T; p.P560P; 6:75866531-75866531 |
skin | malignant_melanoma | Substitution - coding silent |
c.485A>C; p.K162T; 6:75832935-75832935 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.291G>T; p.V97V; 6:75830445-75830445 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.980T>C; p.I327T; 6:75848433-75848433 |
skin | malignant_melanoma | Substitution - Missense |
c.3693T>C; p.L1231L; 6:75914847-75914847 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1258C>G; p.R420G; 6:75857131-75857131 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3137+8A>G; p.?; 6:75895268-75895268 |
prostate | carcinoma | Unknown |
c.3108-1G>T; p.?; 6:75895230-75895230 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.3309A>C; p.E1103D; 6:75908524-75908524 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.925C>T; p.P309S; 6:75848378-75848378 |
skin | malignant_melanoma | Substitution - Missense |
c.2043A>G; p.E681E; 6:75873266-75873266 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1017G>T; p.R339R; 6:75848470-75848470 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1071C>T; p.S357S; 6:75848524-75848524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - coding silent |
c.2938C>T; p.R980C; 6:75891298-75891298 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2938C>T; p.R980C; 6:75891298-75891298 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2555A>C; p.K852T; 6:75886891-75886891 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.900C>T; p.Y300Y; 6:75848353-75848353 |
skin | malignant_melanoma | Substitution - coding silent |
c.793T>G; p.L265V; 6:75841355-75841355 |
breast | carcinoma | Substitution - Missense |
c.2721_2722GG>TT; p.E907_E908>D*; 6:75890119-75890120 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Complex - compound substitution |
c.2109T>C; p.G703G; 6:75879851-75879851 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2109T>C; p.G703G; 6:75879851-75879851 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2532C>T; p.G844G; 6:75886868-75886868 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1049T>C; p.I350T; 6:75848502-75848502 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1067G>A; p.G356D; 6:75848520-75848520 |
stomach | adenocarcinoma | Substitution - Missense |
c.1853G>A; p.R618Q; 6:75867014-75867014 |
skin | malignant_melanoma | Substitution - Missense |
c.2949T>C; p.A983A; 6:75892532-75892532 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2188G>T; p.D730Y; 6:75879930-75879930 |
liver | carcinoma | Substitution - Missense |
c.1775A>T; p.Q592L; 6:75866936-75866936 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1202G>A; p.G401D; 6:75855262-75855262 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.106C>A; p.Q36K; 6:75817653-75817653 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1551A>G; p.L517L; 6:75862600-75862600 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2129C>T; p.S710L; 6:75879871-75879871 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2788C>A; p.Q930K; 6:75890186-75890186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.376C>T; p.H126Y; 6:75830530-75830530 |
breast | carcinoma | Substitution - Missense |
c.3452C>T; p.P1151L; 6:75914075-75914075 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1522T>C; p.Y508H; 6:75861071-75861071 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.931C>G; p.L311V; 6:75848384-75848384 |
pancreas | NS | Substitution - Missense |
c.1343C>T; p.S448L; 6:75857216-75857216 |
breast | carcinoma | Substitution - Missense |
c.2389C>A; p.Q797K; 6:75881791-75881791 |
liver | carcinoma | Substitution - Missense |
c.2389C>A; p.Q797K; 6:75881791-75881791 |
liver | carcinoma | Substitution - Missense |
c.2972G>C; p.R991P; 6:75892555-75892555 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3138G>A; p.P1046P; 6:75898373-75898373 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.432T>C; p.S144S; 6:75832882-75832882 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2944C>T; p.Q982*; 6:75891304-75891304 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1162_1163insT; p.S389fs*33; 6:75855222-75855223 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.1133T>C; p.L378S; 6:75855193-75855193 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3820A>C; p.T1274P; 6:75914974-75914974 |
breast | carcinoma | Substitution - Missense |
c.2944C>T; p.Q982*; 6:75891304-75891304 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.566T>C; p.L189P; 6:75840597-75840597 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1015C>T; p.R339W; 6:75848468-75848468 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1046A>G; p.N349S; 6:75848499-75848499 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1965G>C; p.L655L; 6:75870667-75870667 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1765G>A; p.E589K; 6:75866616-75866616 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2810G>T; p.R937I; 6:75890208-75890208 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1976G>A; p.R659Q; 6:75870678-75870678 |
liver | carcinoma | Substitution - Missense |
c.1976G>A; p.R659Q; 6:75870678-75870678 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.518G>C; p.G173A; 6:75835921-75835921 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1976G>A; p.R659Q; 6:75870678-75870678 |
liver | carcinoma | Substitution - Missense |
c.2837G>A; p.R946H; 6:75890235-75890235 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3680G>A; p.C1227Y; 6:75914834-75914834 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.827G>A; p.R276Q; 6:75844907-75844907 |
prostate | carcinoma | Substitution - Missense |
c.3179G>T; p.G1060V; 6:75907607-75907607 |
liver | carcinoma | Substitution - Missense |
c.1753G>C; p.A585P; 6:75866604-75866604 |
breast | carcinoma | Substitution - Missense |
c.1975C>T; p.R659*; 6:75870677-75870677 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2661C>T; p.S887S; 6:75890059-75890059 |
liver | carcinoma | Substitution - coding silent |
c.2794G>A; p.E932K; 6:75890192-75890192 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3538G>A; p.D1180N; 6:75914161-75914161 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2293G>T; p.E765*; 6:75881695-75881695 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3538G>A; p.D1180N; 6:75914161-75914161 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3170T>A; p.L1057*; 6:75898405-75898405 |
breast | carcinoma | Substitution - Nonsense |
c.3506G>A; p.R1169H; 6:75914129-75914129 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2714G>C; p.S905T; 6:75890112-75890112 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.576T>C; p.F192F; 6:75840607-75840607 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3506G>A; p.R1169H; 6:75914129-75914129 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.500A>T; p.Y167F; 6:75835903-75835903 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2714G>C; p.S905T; 6:75890112-75890112 |
liver | carcinoma | Substitution - Missense |
c.256A>C; p.I86L; 6:75828608-75828608 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2438G>A; p.R813Q; 6:75886025-75886025 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2123G>A; p.R708Q; 6:75879865-75879865 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2123G>A; p.R708Q; 6:75879865-75879865 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3500A>T; p.Q1167L; 6:75914123-75914123 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3500A>T; p.Q1167L; 6:75914123-75914123 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.172G>T; p.D58Y; 6:75822836-75822836 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.922G>T; p.D308Y; 6:75848375-75848375 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2616G>T; p.K872N; 6:75886952-75886952 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1618G>T; p.D540Y; 6:75862667-75862667 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2624A>G; p.E875G; 6:75886960-75886960 |
liver | carcinoma | Substitution - Missense |
c.3491T>G; p.M1164R; 6:75914114-75914114 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.774_775insTA; p.I259fs*1; 6:75841336-75841337 |
breast | carcinoma | Insertion - Frameshift |
c.2868-1G>A; p.?; 6:75891227-75891227 |
skin | malignant_melanoma | Unknown |
c.781G>A; p.E261K; 6:75841343-75841343 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1505G>A; p.G502D; 6:75861054-75861054 |
skin | malignant_melanoma | Substitution - Missense |
c.3479G>A; p.R1160Q; 6:75914102-75914102 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1254T>C; p.N418N; 6:75857127-75857127 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1156C>T; p.L386F; 6:75855216-75855216 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3063C>T; p.A1021A; 6:75892646-75892646 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.1156C>T; p.L386F; 6:75855216-75855216 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3063C>T; p.A1021A; 6:75892646-75892646 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.728G>T; p.R243I; 6:75841290-75841290 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2545C>T; p.R849*; 6:75886881-75886881 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2374C>A; p.R792S; 6:75881776-75881776 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.269T>C; p.V90A; 6:75830423-75830423 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2969C>T; p.A990V; 6:75892552-75892552 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2969C>T; p.A990V; 6:75892552-75892552 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.423C>G; p.L141L; 6:75832873-75832873 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1835C>T; p.S612F; 6:75866996-75866996 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1835C>T; p.S612F; 6:75866996-75866996 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.3383_3397del15; p.Q1128_S1133>P; 6:75908598-75908612 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Complex - deletion inframe |
c.1985G>A; p.G662E; 6:75873208-75873208 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2976G>A; p.Q992Q; 6:75892559-75892559 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2417-1G>A; p.?; 6:75886003-75886003 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.3577T>G; p.W1193G; 6:75914200-75914200 |
breast | carcinoma | Substitution - Missense |
c.3418G>C; p.A1140P; 6:75911677-75911677 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2594C>T; p.P865L; 6:75886930-75886930 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3262A>G; p.T1088A; 6:75907690-75907690 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2753A>T; p.Q918L; 6:75890151-75890151 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3296C>T; p.A1099V; 6:75908511-75908511 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.270C>T; p.V90V; 6:75830424-75830424 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2743delA; p.K917fs*10; 6:75890141-75890141 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2743delA; p.K917fs*10; 6:75890141-75890141 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2743delA; p.K917fs*10; 6:75890141-75890141 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |