| Gene ID | 3572 |
| Symbol | IL6ST |
| Synonymous | CD130|CDW130|GP130|IL-6RB |
| Full name | interleukin 6 signal transducer |
| Gene description | CD130 antigen|IL-6 receptor subunit beta|IL-6R subunit beta|gp130 of the rheumatoid arthritis antigenic peptide-bearing soluble form|gp130, oncostatin M receptor|interleukin receptor beta chain|interleukin-6 receptor subunit beta|membrane glycoprotein 130 |
| Cytoband | 5q11.2 |
| Gene type | protein-coding |
| Synonymous | MIM:600694; HGNC:HGNC:6021; Ensembl:ENSG00000134352; HPRD:02824; Vega:OTTHUMG00000097043 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.634A>G; p.I212V; 5:55964170-55964170 |
liver | carcinoma | Substitution - Missense |
c.634A>G; p.I212V; 5:55964170-55964170 |
liver | carcinoma | Substitution - Missense |
c.2113C>T; p.P705S; 5:55941726-55941726 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.759A>T; p.I253I; 5:55963406-55963406 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.570_578delTTTTGTCAA; p.F191_N193delFVN; 5:55964226-55964234 |
liver | other; adenoma | Deletion - In frame |
c.462G>A; p.L154L; 5:55968305-55968305 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.570_578delTTTTGTCAA; p.F191_N193delFVN; 5:55964226-55964234 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.1245T>C; p.T415T; 5:55956047-55956047 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1813G>T; p.E605*; 5:55951491-55951491 |
pancreas | carcinoma | Substitution - Nonsense |
c.1813G>T; p.E605*; 5:55951491-55951491 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1183C>T; p.R395C; 5:55956109-55956109 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.575_583del9; p.V192_I194del; 5:55964221-55964229 |
liver | other; adenoma | Deletion - In frame |
c.2414G>A; p.G805D; 5:55941425-55941425 |
skin | malignant_melanoma | Substitution - Missense |
c.571_579delTTTGTCAAC; p.F191_N193delFVN; 5:55964225-55964233 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.568_579del12; p.Y190_N193del; 5:55964225-55964236 |
liver | other; adenoma | Deletion - In frame |
c.2556T>C; p.I852I; 5:55941283-55941283 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.568_579del12; p.Y190_N193del; 5:55964225-55964236 |
liver | other; adenoma | Deletion - In frame |
c.646_647ins33; p.D215_P216ins12; 5:55964157-55964158 |
liver | other; adenoma | Insertion - In frame |
c.563_577del15; p.T188_V192del; 5:55964227-55964241 |
liver | other; adenoma | Deletion - In frame |
c.1587delA; p.V530fs*1; 5:55952041-55952041 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1587delA; p.V530fs*1; 5:55952041-55952041 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1587delA; p.V530fs*1; 5:55952041-55952041 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2080G>T; p.V694L; 5:55941759-55941759 |
skin | malignant_melanoma | Substitution - Missense |
c.631C>T; p.H211Y; 5:55964173-55964173 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2261C>T; p.S754L; 5:55941578-55941578 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2261C>T; p.S754L; 5:55941578-55941578 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2261C>T; p.S754L; 5:55941578-55941578 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.583_588delGAAGTC; p.E195_V196del; 5:55964216-55964221 |
liver | other; adenoma | Deletion - In frame |
c.1271C>T; p.T424I; 5:55954989-55954989 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2460T>C; p.S820S; 5:55941379-55941379 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1271C>T; p.T424I; 5:55954989-55954989 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.763C>A; p.L255I; 5:55963402-55963402 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.667A>T; p.N223Y; 5:55963498-55963498 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1879T>G; p.L627V; 5:55947551-55947551 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.40_41insC; p.I14fs*6; 5:55976238-55976239 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.40_41insC; p.I14fs*6; 5:55976238-55976239 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2336G>T; p.R779I; 5:55941503-55941503 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.838A>G; p.T280A; 5:55960537-55960537 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.566_577del12; p.V189_N193>D; 5:55964227-55964238 |
liver | other; adenoma | Complex - deletion inframe |
c.324C>T; p.F108F; 5:55969596-55969596 |
skin | malignant_melanoma | Substitution - coding silent |
c.348T>A; p.Y116*; 5:55969572-55969572 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1817T>C; p.F606S; 5:55951487-55951487 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.412G>A; p.E138K; 5:55968355-55968355 |
breast | carcinoma | Substitution - Missense |
c.556_571>A; p.Y186_F191>I; 5:55964233-55964248 |
liver | other; adenoma | Complex - deletion inframe |
c.49A>G; p.T17A; 5:55976230-55976230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.556_571>A; p.Y186_F191>I; 5:55964233-55964248 |
liver | other; adenoma | Complex - deletion inframe |
c.223_224CC>TT; p.P75F; 5:55969696-55969697 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1039G>A; p.V347I; 5:55957226-55957226 |
skin | malignant_melanoma | Substitution - Missense |
c.214T>G; p.F72V; 5:55969706-55969706 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.646_648delCCT; p.P216del; 5:55964156-55964158 |
liver | other; adenoma | Deletion - In frame |
c.2315C>T; p.P772L; 5:55941524-55941524 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>A; p.R176H; 5:55964277-55964277 |
prostate | carcinoma | Substitution - Missense |
c.1973C>A; p.P658H; 5:55942716-55942716 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2395G>A; p.V799I; 5:55941444-55941444 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.527G>A; p.R176H; 5:55964277-55964277 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2122C>T; p.L708L; 5:55941717-55941717 |
skin | malignant_melanoma | Substitution - coding silent |
c.564_575del12; p.V189_V192del; 5:55964229-55964240 |
liver | other; adenoma | Deletion - In frame |
c.564_575del12; p.V189_V192del; 5:55964229-55964240 |
liver | other; adenoma | Deletion - In frame |
c.413A>C; p.E138A; 5:55968354-55968354 |
breast | carcinoma | Substitution - Missense |
c.643_645delGAT; p.D215del; 5:55964159-55964161 |
liver | other; adenoma | Deletion - In frame |
c.643_645delGAT; p.D215del; 5:55964159-55964161 |
liver | other; adenoma | Deletion - In frame |
c.643_645delGAT; p.D215del; 5:55964159-55964161 |
liver | other; adenoma | Deletion - In frame |
c.2016A>G; p.P672P; 5:55942673-55942673 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2412C>T; p.G804G; 5:55941427-55941427 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2412C>T; p.G804G; 5:55941427-55941427 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1771C>T; p.R591*; 5:55951533-55951533 |
prostate | carcinoma | Substitution - Nonsense |
c.2412C>T; p.G804G; 5:55941427-55941427 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.562_575del14; p.T188fs*3; 5:55964229-55964242 |
liver | other; adenoma | Deletion - Frameshift |
c.1057A>G; p.T353A; 5:55956235-55956235 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1221C>T; p.G407G; 5:55956071-55956071 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2237A>C; p.E746A; 5:55941602-55941602 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1117T>C; p.W373R; 5:55956175-55956175 |
liver | carcinoma | Substitution - Missense |
c.1768G>A; p.V590I; 5:55951536-55951536 |
breast | carcinoma | Substitution - Missense |
c.1754A>T; p.D585V; 5:55951550-55951550 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.991A>C; p.S331R; 5:55957274-55957274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.882A>G; p.E294E; 5:55960493-55960493 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1754A>T; p.D585V; 5:55951550-55951550 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1450+1G>A; p.?; 5:55954809-55954809 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2661A>C; p.R887S; 5:55941178-55941178 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1331C>T; p.T444I; 5:55954929-55954929 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1586A>G; p.K529R; 5:55952042-55952042 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.626C>T; p.S209L; 5:55964178-55964178 |
skin | malignant_melanoma | Substitution - Missense |
c.1516A>C; p.S506R; 5:55952286-55952286 |
skin | malignant_melanoma | Substitution - Missense |
c.836C>G; p.S279C; 5:55960539-55960539 |
breast | carcinoma | Substitution - Missense |
c.557_574del18; p.Y186_V192>F; 5:55964230-55964247 |
liver | other; adenoma | Complex - deletion inframe |
c.1520C>G; p.P507R; 5:55952282-55952282 |
breast | carcinoma | Substitution - Missense |
c.2089G>T; p.E697*; 5:55941750-55941750 |
breast | carcinoma | Substitution - Nonsense |
c.1079A>G; p.N360S; 5:55956213-55956213 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.641_642ins24; p.N213_F214insLVTSDHIN; 5:55964162-55964163 |
liver | other; adenoma | Insertion - In frame |
c.1136A>G; p.N379S; 5:55956156-55956156 |
breast | carcinoma | Substitution - Missense |
c.2413G>T; p.G805C; 5:55941426-55941426 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1565G>C; p.G522A; 5:55952063-55952063 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1244C>T; p.T415I; 5:55956048-55956048 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1521T>C; p.P507P; 5:55952281-55952281 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.944A>T; p.E315V; 5:55960431-55960431 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.220A>C; p.I74L; 5:55969700-55969700 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.716T>A; p.I239N; 5:55963449-55963449 |
stomach | adenocarcinoma | Substitution - Missense |
c.1660delT; p.Y554fs*15; 5:55951968-55951968 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.668A>G; p.N223S; 5:55963497-55963497 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.818C>T; p.P273L; 5:55960557-55960557 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.818C>T; p.P273L; 5:55960557-55960557 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.503_580del78; p.K168_N193del; 5:55964224-55964301 |
liver | other; adenoma | Deletion - In frame |
c.1075G>A; p.A359T; 5:55956217-55956217 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.566_580>ATG; p.V189_I194>DV; 5:55964224-55964238 |
liver | other; adenoma | Complex - deletion inframe |
c.645_646ins30; p.D215_P216insKVTSDHINFD; 5:55964158-55964159 |
liver | other; adenoma | Insertion - In frame |
c.2083G>T; p.E695*; 5:55941756-55941756 |
breast | carcinoma | Substitution - Nonsense |
c.577_579delAAC; p.N193delN; 5:55964225-55964227 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.985G>T; p.A329S; 5:55957280-55957280 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2030A>T; p.N677I; 5:55941809-55941809 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.559_573del15; p.S187_F191del; 5:55964231-55964245 |
liver | other; adenoma | Deletion - In frame |
c.2639G>C; p.G880A; 5:55941200-55941200 |
breast | carcinoma | Substitution - Missense |
c.2012C>T; p.P671L; 5:55942677-55942677 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1726G>A; p.E576K; 5:55951578-55951578 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.552_566del15; p.D185_V189del; 5:55964238-55964252 |
liver | other; adenoma | Deletion - In frame |
c.565_576del12; p.V189_V192delVYFV; 5:55964228-55964239 |
liver | other; adenoma | Deletion - In frame |
c.1599C>T; p.N533N; 5:55952029-55952029 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.565_576del12; p.V189_V192delVYFV; 5:55964228-55964239 |
liver | other; adenoma | Deletion - In frame |
c.565_576del12; p.V189_V192delVYFV; 5:55964228-55964239 |
liver | other; adenoma | Deletion - In frame |
c.562_573del12; p.T188_F191del; 5:55964231-55964242 |
liver | other; adenoma | Deletion - In frame |
c.562_573del12; p.T188_F191del; 5:55964231-55964242 |
liver | other; adenoma | Deletion - In frame |
c.2482A>G; p.I828V; 5:55941357-55941357 |
liver | carcinoma | Substitution - Missense |
c.565_576del12; p.V189_V192delVYFV; 5:55964228-55964239 |
liver | other; adenoma | Deletion - In frame |
c.565_576del12; p.V189_V192delVYFV; 5:55964228-55964239 |
liver | other; adenoma | Deletion - In frame |
c.565_576del12; p.V189_V192delVYFV; 5:55964228-55964239 |
liver | other; adenoma | Deletion - In frame |
c.565_576del12; p.V189_V192delVYFV; 5:55964228-55964239 |
liver | other; adenoma | Deletion - In frame |
c.1046T>G; p.L349R; 5:55957219-55957219 |
skin | malignant_melanoma | Substitution - Missense |
c.2482A>G; p.I828V; 5:55941357-55941357 |
liver | carcinoma | Substitution - Missense |
c.565_576del12; p.V189_V192delVYFV; 5:55964228-55964239 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.2513C>T; p.S838L; 5:55941326-55941326 |
skin | malignant_melanoma | Substitution - Missense |
c.2534T>G; p.F845C; 5:55941305-55941305 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.573_582>G; p.F191_I194>L; 5:55964222-55964231 |
liver | other; adenoma | Complex - deletion inframe |
c.1353G>T; p.K451N; 5:55954907-55954907 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.564_576>A; p.V189_V192del; 5:55964228-55964240 |
liver | other; adenoma | Deletion - In frame |
c.1651A>T; p.I551F; 5:55951977-55951977 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.565_574GTGTATTTTG>T; p.V189_V192>F; 5:55964230-55964239 |
liver | other; adenoma | Complex - deletion inframe |
c.647C>A; p.P216H; 5:55964157-55964157 |
liver | other; adenoma | Substitution - Missense |
c.647C>A; p.P216H; 5:55964157-55964157 |
liver | other; adenoma | Substitution - Missense |
c.90_91insT; p.I31fs*4; 5:55969829-55969830 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.647C>A; p.P216H; 5:55964157-55964157 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.647C>A; p.P216H; 5:55964157-55964157 |
liver | other; adenoma | Substitution - Missense |
c.647C>A; p.P216H; 5:55964157-55964157 |
liver | other; adenoma | Substitution - Missense |
c.2201T>C; p.M734T; 5:55941638-55941638 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.748A>C; p.K250Q; 5:55963417-55963417 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.617A>C; p.K206T; 5:55964187-55964187 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.563_574del12; p.T188_V192>I; 5:55964230-55964241 |
liver | other; adenoma | Complex - deletion inframe |
c.563_574del12; p.T188_V192>I; 5:55964230-55964241 |
liver | other; adenoma | Complex - deletion inframe |
c.563_574del12; p.T188_V192>I; 5:55964230-55964241 |
liver | other; adenoma | Complex - deletion inframe |
c.1612G>C; p.E538Q; 5:55952016-55952016 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.563_574del12; p.T188_V192>I; 5:55964230-55964241 |
liver | other; adenoma | Complex - deletion inframe |
c.160T>A; p.C54S; 5:55969760-55969760 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.518_532del15; p.K173_D177del; 5:55964272-55964286 |
liver | other; adenoma | Deletion - In frame |
c.518_532del15; p.K173_D177del; 5:55964272-55964286 |
liver | other; adenoma | Deletion - In frame |
c.518_532del15; p.K173_D177del; 5:55964272-55964286 |
liver | other; adenoma | Deletion - In frame |
c.1427C>T; p.T476I; 5:55954833-55954833 |
skin | malignant_melanoma | Substitution - Missense |
c.2688G>A; p.A896A; 5:55941151-55941151 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.601G>C; p.E201Q; 5:55964203-55964203 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.454A>G; p.T152A; 5:55968313-55968313 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2010T>A; p.T670T; 5:55942679-55942679 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2000C>T; p.S667L; 5:55942689-55942689 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2170C>T; p.H724Y; 5:55941669-55941669 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1955G>A; p.W652*; 5:55942734-55942734 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.526C>T; p.R176C; 5:55964278-55964278 |
liver | carcinoma | Substitution - Missense |
c.241A>G; p.I81V; 5:55969679-55969679 |
liver | carcinoma | Substitution - Missense |
c.2458A>G; p.S820G; 5:55941381-55941381 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.840C>A; p.T280T; 5:55960535-55960535 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | other; adenoma | Deletion - In frame |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | other; adenoma | Deletion - In frame |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | other; adenoma | Deletion - In frame |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | other; adenoma | Deletion - In frame |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | other; adenoma | Deletion - In frame |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | other; adenoma | Deletion - In frame |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | other; adenoma | Deletion - In frame |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | other; adenoma | Deletion - In frame |
c.569_578ATTTTGTCAA>C; p.Y190_N193>S; 5:55964226-55964235 |
liver | other; adenoma | Complex - deletion inframe |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | other; adenoma | Deletion - In frame |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | other; adenoma | Deletion - In frame |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | other; adenoma | Deletion - In frame |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | other; adenoma | Deletion - In frame |
c.557_571del15; p.Y186_Y190delYSTVY; 5:55964233-55964247 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.1377_1378delGT; p.L460fs*3; 5:55954882-55954883 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1602A>T; p.E534D; 5:55952026-55952026 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1072G>C; p.E358Q; 5:55956220-55956220 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1796G>A; p.G599D; 5:55951508-55951508 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | other; adenoma | Deletion - In frame |
c.1646G>T; p.G549V; 5:55951982-55951982 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | other; adenoma | Deletion - In frame |
c.567_578del12; p.Y190_N193delYFVN; 5:55964226-55964237 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | other; adenoma | Deletion - In frame |
c.1252_1263del12; p.A418_F421delACDF; 5:55956029-55956040 |
liver | other; adenoma | Deletion - In frame |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | other; adenoma | Deletion - In frame |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | other; adenoma | Deletion - In frame |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | other; adenoma | Deletion - In frame |
c.1738T>G; p.S580A; 5:55951566-55951566 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | other; adenoma | Deletion - In frame |
c.567_578del12; p.Y190_N193delYFVN; 5:55964226-55964237 |
liver | other; adenoma | Deletion - In frame |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | other; adenoma | Deletion - In frame |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | other; adenoma | Deletion - In frame |
c.567_578del12; p.Y190_N193delYFVN; 5:55964226-55964237 |
liver | other; adenoma | Deletion - In frame |
c.1252_1263del12; p.A418_F421delACDF; 5:55956029-55956040 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - In frame |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | other; adenoma | Deletion - In frame |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | other; adenoma | Deletion - In frame |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | other; adenoma | Deletion - In frame |
c.560_571del12; p.S187_Y190delSTVY; 5:55964233-55964244 |
liver | other; adenoma | Deletion - In frame |
c.1600G>A; p.E534K; 5:55952028-55952028 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1371G>T; p.W457C; 5:55954889-55954889 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1930C>T; p.R644*; 5:55947500-55947500 |
prostate | carcinoma | Substitution - Nonsense |
c.836C>T; p.S279F; 5:55960539-55960539 |
skin | malignant_melanoma | Substitution - Missense |
c.551_559del9; p.V184_S187>A; 5:55964245-55964253 |
liver | other; adenoma | Complex - deletion inframe |
c.1213C>T; p.L405F; 5:55956079-55956079 |
skin | malignant_melanoma | Substitution - Missense |
c.377C>G; p.P126R; 5:55968390-55968390 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1649T>G; p.F550C; 5:55951979-55951979 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1836G>A; p.K612K; 5:55951468-55951468 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1649T>G; p.F550C; 5:55951979-55951979 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1860C>T; p.A620A; 5:55947570-55947570 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1576C>T; p.R526W; 5:55952052-55952052 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1336C>T; p.P446S; 5:55954924-55954924 |
skin | malignant_melanoma | Substitution - Missense |
c.610C>A; p.L204I; 5:55964194-55964194 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.778C>A; p.Q260K; 5:55963387-55963387 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1626_1627insT; p.P543fs*3; 5:55952001-55952002 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.614G>A; p.G205E; 5:55964190-55964190 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.758T>A; p.I253K; 5:55963407-55963407 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.9G>A; p.T3T; 5:55976270-55976270 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.758T>A; p.I253K; 5:55963407-55963407 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2125A>T; p.K709*; 5:55941714-55941714 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.766A>C; p.K256Q; 5:55963399-55963399 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.491+2T>C; p.?; 5:55968274-55968274 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1435C>T; p.R479C; 5:55954825-55954825 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1028G>C; p.G343A; 5:55957237-55957237 |
pancreas | carcinoma | Substitution - Missense |
c.1000T>C; p.Y334H; 5:55957265-55957265 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1485A>G; p.T495T; 5:55952317-55952317 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |