| Gene ID | 5291 |
| Symbol | PIK3CB |
| Synonymous | P110BETA|PI3K|PI3KBETA|PIK3C1 |
| Full name | phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta |
| Gene description | PI3-kinase p110 subunit beta|PI3-kinase subunit beta|PI3K-beta|PtdIns-3-kinase p110|phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta|phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform|phosphatidylino |
| Cytoband | 3q22.3 |
| Gene type | protein-coding |
| Synonymous | MIM:602925; HGNC:HGNC:8976; Ensembl:ENSG00000051382; HPRD:04234; Vega:OTTHUMG00000159893 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1618G>T; p.E540*; 3:138699059-138699059 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3200A>T; p.D1067V; 3:138655402-138655402 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.3200A>T; p.D1067V; 3:138655402-138655402 |
thyroid | carcinoma | Substitution - Missense |
c.562T>C; p.L188L; 3:138742617-138742617 |
skin | malignant_melanoma | Substitution - coding silent |
c.428C>T; p.P143L; 3:138742751-138742751 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3200A>T; p.D1067V; 3:138655402-138655402 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3200A>T; p.D1067V; 3:138655402-138655402 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1317G>A; p.A439A; 3:138712290-138712290 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1083T>C; p.T361T; 3:138714687-138714687 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2406G>A; p.V802V; 3:138683697-138683697 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1786C>T; p.Q596*; 3:138694892-138694892 |
skin | malignant_melanoma | Substitution - Nonsense |
c.902A>T; p.E301V; 3:138734704-138734704 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.56C>T; p.A19V; 3:138759288-138759288 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1641G>A; p.L547L; 3:138699036-138699036 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - coding silent |
c.1250C>T; p.T417M; 3:138714520-138714520 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1250C>T; p.T417M; 3:138714520-138714520 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1251G>A; p.T417T; 3:138714519-138714519 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2505-9_2505-8insT; p.?; 3:138665211-138665212 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.2101G>A; p.G701R; 3:138688910-138688910 |
liver | carcinoma | Substitution - Missense |
c.476A>G; p.K159R; 3:138742703-138742703 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.286A>G; p.T96A; 3:138755865-138755865 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2606A>G; p.N869S; 3:138665102-138665102 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.762A>G; p.V254V; 3:138737746-138737746 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.2377A>G; p.K793E; 3:138683726-138683726 |
skin | malignant_melanoma | Substitution - Missense |
c.1491G>C; p.E497D; 3:138707198-138707198 |
breast | carcinoma | Substitution - Missense |
c.1059C>A; p.V353V; 3:138714711-138714711 |
liver | carcinoma | Substitution - coding silent |
c.1744T>C; p.W582R; 3:138698933-138698933 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2967A>G; p.A989A; 3:138656250-138656250 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.716A>G; p.D239G; 3:138737792-138737792 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4T>G; p.C2G; 3:138759340-138759340 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.3199G>T; p.D1067Y; 3:138655403-138655403 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2032C>A; p.L678I; 3:138691004-138691004 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3199G>T; p.D1067Y; 3:138655403-138655403 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2796+2T>G; p.?; 3:138663904-138663904 |
breast | carcinoma | Unknown |
c.182A>C; p.K61T; 3:138755969-138755969 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2021T>C; p.L674P; 3:138691015-138691015 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3151G>A; p.E1051K; 3:138655451-138655451 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3151G>A; p.E1051K; 3:138655451-138655451 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3151G>A; p.E1051K; 3:138655451-138655451 |
breast | carcinoma | Substitution - Missense |
c.3151G>A; p.E1051K; 3:138655451-138655451 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3151G>A; p.E1051K; 3:138655451-138655451 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3151G>A; p.E1051K; 3:138655451-138655451 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3151G>A; p.E1051K; 3:138655451-138655451 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1883G>A; p.R628Q; 3:138694795-138694795 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1883G>A; p.R628Q; 3:138694795-138694795 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1883G>A; p.R628Q; 3:138694795-138694795 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2671G>C; p.G891R; 3:138665037-138665037 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.707G>A; p.G236E; 3:138737801-138737801 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2191G>A; p.V731M; 3:138684749-138684749 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3139G>A; p.E1047K; 3:138655463-138655463 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.434T>C; p.V145A; 3:138742745-138742745 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.82G>A; p.G28S; 3:138759262-138759262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2900T>C; p.V967A; 3:138657732-138657732 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1707C>A; p.F569L; 3:138698970-138698970 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.2126T>C; p.L709P; 3:138688885-138688885 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3194G>A; p.R1065Q; 3:138655408-138655408 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.371C>G; p.S124*; 3:138755780-138755780 |
breast | carcinoma | Substitution - Nonsense |
c.1196G>A; p.R399Q; 3:138714574-138714574 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1519C>T; p.P507S; 3:138707170-138707170 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1914T>C; p.Y638Y; 3:138691122-138691122 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1519C>T; p.P507S; 3:138707170-138707170 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1638C>T; p.P546P; 3:138699039-138699039 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1519C>T; p.P507S; 3:138707170-138707170 |
skin; ear | malignant_melanoma | Substitution - Missense |
c.243A>G; p.A81A; 3:138755908-138755908 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2885A>G; p.Y962C; 3:138657747-138657747 |
liver | carcinoma | Substitution - Missense |
c.2885A>G; p.Y962C; 3:138657747-138657747 |
liver | carcinoma | Substitution - Missense |
c.2325G>A; p.K775K; 3:138683778-138683778 |
skin | malignant_melanoma | Substitution - coding silent |
c.446G>A; p.R149Q; 3:138742733-138742733 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.446G>A; p.R149Q; 3:138742733-138742733 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.446G>A; p.R149Q; 3:138742733-138742733 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.937C>T; p.L313F; 3:138734669-138734669 |
NS | NS | Substitution - Missense |
c.3080C>G; p.S1027C; 3:138655522-138655522 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2104A>G; p.S702G; 3:138688907-138688907 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1266C>T; p.P422P; 3:138714504-138714504 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1316C>T; p.A439V; 3:138712291-138712291 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3146T>G; p.L1049R; 3:138655456-138655456 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1232T>A; p.V411E; 3:138714538-138714538 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1771-5A>T; p.?; 3:138694912-138694912 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.1407C>T; p.L469L; 3:138707282-138707282 |
breast | carcinoma; HER-positive_carcinoma | Substitution - coding silent |
c.1771-5A>T; p.?; 3:138694912-138694912 |
liver | carcinoma | Unknown |
c.2908C>T; p.Q970*; 3:138657724-138657724 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1810delC; p.R604fs*4; 3:138694868-138694868 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.568G>T; p.D190Y; 3:138742611-138742611 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.917G>A; p.R306Q; 3:138734689-138734689 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1897G>A; p.E633K; 3:138691139-138691139 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.2451C>T; p.L817L; 3:138682020-138682020 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.207C>T; p.F69F; 3:138755944-138755944 |
skin | malignant_melanoma | Substitution - coding silent |
c.911T>G; p.I304R; 3:138734695-138734695 |
breast | carcinoma | Substitution - Missense |
c.870G>T; p.K290N; 3:138734736-138734736 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3109G>A; p.A1037T; 3:138655493-138655493 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.870G>T; p.K290N; 3:138734736-138734736 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.308G>A; p.R103K; 3:138755843-138755843 |
breast | carcinoma | Substitution - Missense |
c.54G>A; p.W18*; 3:138759290-138759290 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1914T>A; p.Y638*; 3:138691122-138691122 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1914T>A; p.Y638*; 3:138691122-138691122 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1860A>G; p.R620R; 3:138694818-138694818 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.1536T>G; p.I512M; 3:138704488-138704488 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.327C>T; p.L109L; 3:138755824-138755824 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2931A>C; p.E977D; 3:138657701-138657701 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1685G>A; p.R562Q; 3:138698992-138698992 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1685G>A; p.R562Q; 3:138698992-138698992 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1520C>T; p.P507L; 3:138707169-138707169 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3205A>C; p.R1069R; 3:138655397-138655397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1810_1811insC; p.R604fs*29; 3:138694867-138694868 |
breast | carcinoma | Insertion - Frameshift |
c.1239G>A; p.T413T; 3:138714531-138714531 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1651T>C; p.C551R; 3:138699026-138699026 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2626T>C; p.F876L; 3:138665082-138665082 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2750T>G; p.I917S; 3:138663952-138663952 |
prostate | adenoma | Substitution - Missense |
c.3200A>C; p.D1067A; 3:138655402-138655402 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3152A>G; p.E1051G; 3:138655450-138655450 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2808T>C; p.I936I; 3:138657824-138657824 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1408G>A; p.E470K; 3:138707281-138707281 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1078G>T; p.G360C; 3:138714692-138714692 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1408G>A; p.E470K; 3:138707281-138707281 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1408G>A; p.E470K; 3:138707281-138707281 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2096G>T; p.C699F; 3:138688915-138688915 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2163T>G; p.T721T; 3:138684777-138684777 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1660G>A; p.E554K; 3:138699017-138699017 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1661A>G; p.E554G; 3:138699016-138699016 |
skin | malignant_melanoma | Substitution - Missense |
c.137T>A; p.V46E; 3:138759207-138759207 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2505-1G>T; p.?; 3:138665204-138665204 |
prostate | carcinoma; adenocarcinoma | Unknown |
c.2302C>T; p.L768F; 3:138684638-138684638 |
breast | carcinoma | Substitution - Missense |
c.2084T>C; p.L695P; 3:138688927-138688927 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1684C>T; p.R562*; 3:138698993-138698993 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2495T>G; p.L832W; 3:138681976-138681976 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2495T>G; p.L832W; 3:138681976-138681976 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2495T>G; p.L832W; 3:138681976-138681976 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2495T>G; p.L832W; 3:138681976-138681976 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2495T>G; p.L832W; 3:138681976-138681976 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1473G>A; p.L491L; 3:138707216-138707216 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1745G>A; p.W582*; 3:138698932-138698932 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3106G>A; p.E1036K; 3:138655496-138655496 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2425+10G>A; p.?; 3:138683668-138683668 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1397C>A; p.P466H; 3:138712210-138712210 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1451A>G; p.Y484C; 3:138707238-138707238 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.61G>C; p.D21H; 3:138759283-138759283 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2659G>T; p.E887*; 3:138665049-138665049 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2673-1G>A; p.?; 3:138664030-138664030 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.962G>A; p.R321Q; 3:138734644-138734644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1105G>A; p.V369I; 3:138714665-138714665 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1104C>T; p.I368I; 3:138714666-138714666 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.962G>A; p.R321Q; 3:138734644-138734644 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.962G>A; p.R321Q; 3:138734644-138734644 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.962G>A; p.R321Q; 3:138734644-138734644 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.962G>A; p.R321Q; 3:138734644-138734644 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.730T>C; p.Y244H; 3:138737778-138737778 |
skin | malignant_melanoma | Substitution - Missense |
c.378T>C; p.I126I; 3:138755773-138755773 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3015G>T; p.A1005A; 3:138656202-138656202 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2539C>G; p.R847G; 3:138665169-138665169 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.1585C>T; p.R529*; 3:138699092-138699092 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.336G>T; p.V112V; 3:138755815-138755815 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.336G>T; p.V112V; 3:138755815-138755815 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3163A>G; p.T1055A; 3:138655439-138655439 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2503C>T; p.R835W; 3:138681968-138681968 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.290G>A; p.R97Q; 3:138755861-138755861 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.761T>A; p.V254E; 3:138737747-138737747 |
liver | carcinoma | Substitution - Missense |
c.900A>C; p.I300I; 3:138734706-138734706 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.761T>A; p.V254E; 3:138737747-138737747 |
liver | carcinoma | Substitution - Missense |
c.1734G>T; p.L578L; 3:138698943-138698943 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.2547C>T; p.G849G; 3:138665161-138665161 |
liver | carcinoma | Substitution - coding silent |
c.2547C>T; p.G849G; 3:138665161-138665161 |
liver | carcinoma | Substitution - coding silent |
c.148G>C; p.A50P; 3:138759196-138759196 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.148G>C; p.A50P; 3:138759196-138759196 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.899T>C; p.I300T; 3:138734707-138734707 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2780T>C; p.V927A; 3:138663922-138663922 |
pancreas | carcinoma | Substitution - Missense |
c.2780T>C; p.V927A; 3:138663922-138663922 |
pancreas | carcinoma | Substitution - Missense |
c.2780T>C; p.V927A; 3:138663922-138663922 |
pancreas | carcinoma | Substitution - Missense |
c.2037-1G>T; p.?; 3:138688975-138688975 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.552C>T; p.I184I; 3:138742627-138742627 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1235A>C; p.K412T; 3:138714535-138714535 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2788delA; p.T930fs*62; 3:138663914-138663914 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2975T>C; p.I992T; 3:138656242-138656242 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1832A>T; p.D611V; 3:138694846-138694846 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1563T>G; p.S521R; 3:138704461-138704461 |
skin; acral | malignant_melanoma | Substitution - Missense |
c.10A>T; p.S4C; 3:138759334-138759334 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2575A>G; p.T859A; 3:138665133-138665133 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.808C>T; p.R270W; 3:138734798-138734798 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3136G>A; p.D1046N; 3:138655466-138655466 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1524C>T; p.F508F; 3:138707165-138707165 |
skin | malignant_melanoma | Substitution - coding silent |
c.472G>A; p.E158K; 3:138742707-138742707 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.478_479insA; p.I160fs*22; 3:138742700-138742701 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.419T>C; p.L140S; 3:138742760-138742760 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.480C>T; p.I160I; 3:138742699-138742699 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3058G>C; p.D1020H; 3:138656159-138656159 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1654G>A; p.E552K; 3:138699023-138699023 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.973-7T>A; p.?; 3:138733445-138733445 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1957G>T; p.D653Y; 3:138691079-138691079 |
liver | carcinoma | Substitution - Missense |
c.1627G>A; p.D543N; 3:138699050-138699050 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2008A>T; p.I670L; 3:138691028-138691028 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.204G>A; p.M68I; 3:138755947-138755947 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1957G>T; p.D653Y; 3:138691079-138691079 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1791T>G; p.I597M; 3:138694887-138694887 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2539C>T; p.R847C; 3:138665169-138665169 |
skin | malignant_melanoma | Substitution - Missense |
c.2189C>T; p.A730V; 3:138684751-138684751 |
breast | carcinoma | Substitution - Missense |
c.3076-1G>A; p.?; 3:138655527-138655527 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.1411G>A; p.E471K; 3:138707278-138707278 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2539C>T; p.R847C; 3:138665169-138665169 |
skin | malignant_melanoma | Substitution - Missense |
c.2624C>A; p.A875D; 3:138665084-138665084 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2002C>T; p.R668W; 3:138691034-138691034 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2905C>T; p.Q969*; 3:138657727-138657727 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.632G>T; p.S211I; 3:138737876-138737876 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.948A>G; p.P316P; 3:138734658-138734658 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.1400-4T>G; p.?; 3:138707293-138707293 |
pancreas | carcinoma | Unknown |
c.1784T>C; p.L595P; 3:138694894-138694894 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2012G>A; p.G671E; 3:138691024-138691024 |
liver | carcinoma | Substitution - Missense |
c.2012G>A; p.G671E; 3:138691024-138691024 |
liver | carcinoma | Substitution - Missense |
c.385C>T; p.L129F; 3:138755766-138755766 |
skin | malignant_melanoma | Substitution - Missense |
c.3143C>T; p.A1048V; 3:138655459-138655459 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3143C>T; p.A1048V; 3:138655459-138655459 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3143C>T; p.A1048V; 3:138655459-138655459 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |