| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 288 |
Name | ANK3 |
Synonymous | ANKYRIN-G;ankyrin 3, node of Ranvier (ankyrin G);ANK3;ankyrin 3, node of Ranvier (ankyrin G) |
Definition | ankyrin G119|ankyrin-3 |
Position | 10q21 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ANK3 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
ANK3_E1442K; chr10; 61841934 |
SUB; MISSENSE; C; C/T; SOMATIC | HYPO; VALID; EXOME |
ANK3_A2023T; chr10; 61834572 |
SUB; MISSENSE; C; C/T; SOMATIC | HYPO; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2974G>A; p.A992T; |
liver | carcinoma; hepatocellular_carcinoma |
c.4927C>A; p.P1643T; |
liver | carcinoma; hepatocellular_carcinoma |
c.5327C>T; p.S1776F; |
skin; arm | malignant_melanoma |
c.2244C>T; p.F748F; |
skin; arm | malignant_melanoma |
c.10550A>T; p.D3517V; |
lung | carcinoma; small_cell_carcinoma |
c.869G>T; p.R290L; |
liver | carcinoma; hepatocellular_carcinoma |
c.1726G>A; p.G576R; |
skin; neck | malignant_melanoma |
c.9181C>T; p.P3061S; |
NS | malignant_melanoma |
c.5125G>A; p.G1709R; |
NS | malignant_melanoma |
c.234C>T; p.L78L; |
NS | malignant_melanoma |
c.9181C>T; p.P3061S; |
NS | malignant_melanoma |
c.5125G>A; p.G1709R; |
NS | malignant_melanoma |
c.234C>T; p.L78L; |
NS | malignant_melanoma |
c.2222G>A; p.G741E; |
skin; upper_arm | malignant_melanoma |
c.3526C>T; p.R1176*; |
skin; upper_arm | malignant_melanoma |
c.9946G>A; p.D3316N; |
skin; upper_arm | malignant_melanoma |
c.6303C>T; p.S2101S; |
NS | malignant_melanoma |
c.4053C>A; p.V1351V; |
NS | malignant_melanoma |
c.1609C>T; p.H537Y; |
NS | malignant_melanoma |
c.11910_11912delCAC; p.T3978delT; |
NS | malignant_melanoma |
c.6303C>T; p.S2101S; |
NS | malignant_melanoma |
c.4053C>A; p.V1351V; |
NS | malignant_melanoma |
c.1609C>T; p.H537Y; |
NS | malignant_melanoma |
c.6477T>G; p.P2159P; |
NS | malignant_melanoma |
c.4356G>A; p.E1452E; |
NS | malignant_melanoma |
c.6477T>G; p.P2159P; |
NS | malignant_melanoma |
c.4356G>A; p.E1452E; |
NS | malignant_melanoma |
c.11910_11912delCAC; p.T3978delT; |
NS | malignant_melanoma |
c.4397G>T; p.R1466L; |
lung | carcinoma; small_cell_carcinoma |
c.10021G>T; p.D3341Y; |
lung | carcinoma; small_cell_carcinoma |
c.6692A>G; p.N2231S; |
lung | carcinoma; small_cell_carcinoma |
c.5681C>A; p.S1894Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9349_9350insA; p.I3117fs*7; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2413C>T; p.R805C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2590G>A; p.E864K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7145C>T; p.A2382V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.47T>A; p.I16N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12951G>T; p.E4317D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12914A>C; p.K4305T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7786C>T; p.R2596C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5417C>T; p.S1806L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4351-10delt; p.?; |
NS | malignant_melanoma |
c.9982C>T; p.P3328S; |
skin; abdomen | malignant_melanoma |
c.9981C>T; p.V3327V; |
skin; abdomen | malignant_melanoma |
c.2551+1G>T; p.?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.5329C>A; p.P1777T; |
NS | NS |
c.8713C>T; p.R2905C; |
endometrium | carcinoma; serous_carcinoma |
c.9973C>A; p.Q3325K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.304G>T; p.A102S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.2930C>T; p.S977L; |
urinary_tract; bladder | carcinoma |
c.7086G>C; p.Q2362H; |
urinary_tract; bladder | carcinoma |
c.5687C>G; p.S1896C; |
urinary_tract; bladder | carcinoma |
c.3736T>C; p.C1246R; |
urinary_tract; bladder | carcinoma |
c.130A>T; p.S44C; |
urinary_tract; bladder | carcinoma |
c.4351-10delt; p.?; |
liver | carcinoma |
c.1617C>T; p.S539S; |
liver | carcinoma |
c.1945A>G; p.T649A; |
liver | carcinoma |
c.3103C>T; p.P1035S; 10:61538664-61538664 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.10520G>T; p.G3507V; |
liver | carcinoma; hepatocellular_carcinoma |
c.4912T>C; p.S1638P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.10710G>A; p.A3570A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.222G>A; p.G74G; 10:61708907-61708907 |
skin | malignant_melanoma |
c.1498C>A; p.Q500K; |
large_intestine | carcinoma; adenocarcinoma |
c.6777C>T; p.G2259G; |
oesophagus | carcinoma; adenocarcinoma |
c.4698C>T; p.D1566D; |
oesophagus | carcinoma; adenocarcinoma |
c.7912G>A; p.E2638K; |
oesophagus | carcinoma; adenocarcinoma |
c.10084A>C; p.S3362R; |
oesophagus | carcinoma; adenocarcinoma |
c.12038G>A; p.R4013H; |
oesophagus | carcinoma; adenocarcinoma |
c.2928T>A; p.V976V; |
oesophagus | carcinoma; adenocarcinoma |
c.7704A>G; p.R2568R; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2189G>A; p.G730E; |
oesophagus | carcinoma; adenocarcinoma |
c.2795G>A; p.R932Q; |
oesophagus | carcinoma; adenocarcinoma |
c.1646C>T; p.A549V; |
oesophagus | carcinoma; adenocarcinoma |
c.11587T>A; p.S3863T; |
oesophagus | carcinoma; adenocarcinoma |
c.627G>T; p.A209A; |
oesophagus | carcinoma; adenocarcinoma |
c.2807T>C; p.M936T; |
oesophagus | carcinoma; adenocarcinoma |
c.8988G>C; p.Q2996H; |
stomach | carcinoma; adenocarcinoma |
c.1218T>C; p.I406I; |
stomach | carcinoma; adenocarcinoma |
c.6471delC; p.I2158fs*64; |
lung | carcinoma; small_cell_carcinoma |
c.8155A>T; p.R2719*; |
liver | carcinoma; hepatocellular_carcinoma |
c.4934C>T; p.A1645V; |
liver | carcinoma; hepatocellular_carcinoma |
c.12646C>T; p.R4216*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7267C>T; p.R2423C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2963T>G; p.F988C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1235G>A; p.R412Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.986C>A; p.S329*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11848T>C; p.L3950L; |
liver | carcinoma |
c.380T>C; p.V127A; |
large_intestine; colon | carcinoma |
c.4248A>G; p.K1416K; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.9691G>A; p.E3231K; |
liver | carcinoma |
c.2551+1G>T; p.?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.590C>T; p.T197I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6800_6802del?; p.?; |
skin; leg | malignant_melanoma; superficial_spreading |
c.12487C>T; p.R4163*; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.4847C>T; p.S1616F; |
skin; trunk | malignant_melanoma; nodular |
c.4848C>T; p.S1616S; |
skin; trunk | malignant_melanoma; nodular |
c.3839delC; p.S1280fs*1; |
lung | carcinoma; adenocarcinoma |
c.11206G>A; p.E3736K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.11521A>G; p.R3841G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.10946G>T; p.G3649V; |
lung | carcinoma; adenocarcinoma |
c.13064A>G; p.K4355R; |
lung | carcinoma; adenocarcinoma |
c.10646G>T; p.R3549L; |
lung | carcinoma; adenocarcinoma |
c.2158G>T; p.G720W; |
lung | carcinoma; adenocarcinoma |
c.10838G>T; p.R3613L; |
lung | carcinoma; adenocarcinoma |
c.2408C>T; p.A803V; |
lung | carcinoma; adenocarcinoma |
c.36G>T; p.R12S; |
lung | carcinoma; adenocarcinoma |
c.8965G>T; p.E2989*; |
lung | carcinoma; adenocarcinoma |
c.3220G>C; p.E1074Q; |
lung | carcinoma; adenocarcinoma |
c.5511G>T; p.K1837N; |
lung | carcinoma; adenocarcinoma |
c.3877G>T; p.E1293*; |
lung | carcinoma; adenocarcinoma |
c.5479G>C; p.V1827L; |
lung | carcinoma; adenocarcinoma |
c.1690-1G>C; p.?; |
lung | carcinoma; adenocarcinoma |
c.10679G>T; p.R3560L; |
lung | carcinoma; adenocarcinoma |
c.7430A>T; p.H2477L; |
lung | carcinoma; adenocarcinoma |
c.6529G>T; p.D2177Y; |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; classic |
c.4272G>T; p.L1424L; |
NS | NS |
c.4856C>T; p.T1619M; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.11565A>G; p.E3855E; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.5986G>A; p.E1996K; |
skin; extremity | malignant_melanoma |
c.5231A>T; p.K1744I; |
skin; extremity | malignant_melanoma |
c.569C>T; p.S190L; |
skin; trunk | malignant_melanoma |
c.4946C>T; p.S1649L; |
skin; extremity | malignant_melanoma |
c.4085G>A; p.G1362E; |
skin; trunk | malignant_melanoma |
c.4317delT; p.H1439fs*25; |
NS | malignant_melanoma |
c.9673G>A; p.E3225K; |
NS | malignant_melanoma |
c.4085G>A; p.G1362E; |
NS | malignant_melanoma |
c.6874G>A; p.G2292S; |
skin; trunk | malignant_melanoma |
c.5266G>A; p.V1756I; |
skin; extremity | malignant_melanoma |
c.1796T>C; p.L599P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.11180C>T; p.S3727F; |
autonomic_ganglia | neuroblastoma |
c.4908G>T; p.R1636S; |
autonomic_ganglia | neuroblastoma |
c.12551G>A; p.R4184K; |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III |
c.4663G>A; p.A1555T; |
ovary | carcinoma; serous_carcinoma |
c.8612C>T; p.S2871L; |
ovary | carcinoma |
c.130A>T; p.S44C; |
liver | carcinoma; hepatocellular_carcinoma |
c.3060C>T; p.I1020I; |
breast | carcinoma |
c.11156G>A; p.R3719H; |
bone | chondrosarcoma |
c.4698C>T; p.D1566D; |
prostate | carcinoma |
c.1669T>C; p.S557P; |
prostate | carcinoma |
c.9147T>C; p.P3049P; |
prostate | carcinoma |
c.10748C>T; p.T3583M; |
pancreas | NS |
c.610C>T; p.P204S; |
pancreas | NS |
c.2715T>C; p.F905F; |
liver | carcinoma |
c.2776A>T; p.N926Y; |
liver | carcinoma |
c.6942G>T; p.Q2314H; |
liver | carcinoma |
c.11782A>G; p.K3928E; |
liver | carcinoma |
c.2744G>T; p.R915L; |
lung | carcinoma; small_cell_carcinoma |
c.11316C>T; p.G3772G; |
lung | carcinoma; small_cell_carcinoma |
c.8290A>G; p.R2764G; |
lung | carcinoma; small_cell_carcinoma |
c.11669A>G; p.K3890R; |
lung | carcinoma; small_cell_carcinoma |
c.9843G>T; p.M3281I; |
lung | carcinoma; small_cell_carcinoma |
c.7475G>A; p.S2492N; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.2222G>T; p.G741V; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.11579G>C; p.R3860T; |
autonomic_ganglia | neuroblastoma |
c.7314G>C; p.L2438F; |
ovary | carcinoma; serous_carcinoma |
c.2176C>G; p.Q726E; |
lung | carcinoma; adenocarcinoma |
c.518G>C; p.G173A; |
lung | carcinoma; adenocarcinoma |
c.4074G>T; p.E1358D; |
lung | carcinoma; adenocarcinoma |
c.367G>T; p.V123L; |
lung | carcinoma; adenocarcinoma |
c.1119G>A; p.V373V; 10:61637875-61637875 |
ovary | carcinoma; serous_carcinoma |
c.6581C>G; p.P2194R; 10:61504064-61504064 |
ovary | carcinoma; serous_carcinoma |
c.3511C>G; p.L1171V; 10:61517940-61517940 |
ovary | carcinoma; serous_carcinoma |
c.9024C>G; p.H3008Q; 10:61501621-61501621 |
ovary | carcinoma; serous_carcinoma |
c.5903T>G; p.V1968G; |
lung | carcinoma; squamous_cell_carcinoma |
c.12431G>C; p.R4144T; |
lung | carcinoma; squamous_cell_carcinoma |
c.488G>T; p.G163V; |
lung | carcinoma; squamous_cell_carcinoma |
c.8562A>G; p.T2854T; |
lung | carcinoma; squamous_cell_carcinoma |
c.2441C>T; p.T814I; |
lung | carcinoma; squamous_cell_carcinoma |
c.10501C>T; p.Q3501*; |
lung | carcinoma; squamous_cell_carcinoma |
c.640G>A; p.D214N; |
lung | carcinoma; squamous_cell_carcinoma |
c.4525G>T; p.A1509S; |
lung | carcinoma; squamous_cell_carcinoma |
c.2294C>T; p.T765M; |
ovary | carcinoma; serous_carcinoma |
c.1085A>G; p.D362G; 10:61637909-61637909 |
ovary | carcinoma; serous_carcinoma |
c.3140T>G; p.V1047G; |
ovary | carcinoma; serous_carcinoma |
c.11254T>A; p.C3752S; 10:61499391-61499391 |
ovary | carcinoma; serous_carcinoma |
c.6573T>A; p.P2191P; |
ovary | carcinoma; serous_carcinoma |
c.3999G>A; p.M1333I; |
lung | carcinoma; adenocarcinoma |
c.7821G>T; p.Q2607H; |
lung | carcinoma; adenocarcinoma |
c.1047C>T; p.C349C; |
ovary | carcinoma; serous_carcinoma |
c.12946G>C; p.E4316Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6225G>A; p.Q2075Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.2829A>T; p.P943P; |
lung | carcinoma; adenocarcinoma |
c.6874G>T; p.G2292C; |
lung | carcinoma; adenocarcinoma |
c.3781A>G; p.T1261A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.412C>T; p.Q138*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7348G>A; p.D2450N; |
lung | carcinoma; adenocarcinoma |
c.225G>C; p.L75F; |
lung | carcinoma; adenocarcinoma |
c.2847A>G; p.L949L; |
lung | carcinoma; adenocarcinoma |
c.4072G>A; p.E1358K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.207T>G; p.I69M; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.5389G>T; p.A1797S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7202A>T; p.E2401V; |
lung | carcinoma; squamous_cell_carcinoma |
c.8757G>T; p.M2919I; |
lung | carcinoma; squamous_cell_carcinoma |
c.8500G>T; p.A2834S; |
lung | carcinoma; squamous_cell_carcinoma |
c.8501C>T; p.A2834V; |
lung | carcinoma; squamous_cell_carcinoma |
c.5370G>T; p.Q1790H; |
lung | carcinoma; adenocarcinoma |
c.5428G>T; p.A1810S; |
lung | carcinoma; squamous_cell_carcinoma |
c.4872C>A; p.T1624T; |
lung | carcinoma; squamous_cell_carcinoma |
c.9794T>C; p.I3265T; |
lung | carcinoma; squamous_cell_carcinoma |
c.4863C>T; p.S1621S; |
lung | carcinoma; squamous_cell_carcinoma |
c.2078G>T; p.S693I; |
lung | carcinoma; adenocarcinoma |
c.3821C>T; p.S1274F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.10550A>T; p.D3517V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4022C>T; p.T1341I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1983C>T; p.T661T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3721A>G; p.N1241D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6107A>T; p.Y2036F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2308G>A; p.A770T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5788C>G; p.Q1930E; |
breast | carcinoma |
c.1214A>G; p.H405R; |
breast | carcinoma |
c.2091C>T; p.G697G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5531C>A; p.S1844*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.864C>T; p.L288L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10760C>T; p.T3587M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.13053_13054insG; p.S4352fs*2; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9349delA; p.I3117fs*2; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8534_8535insG; p.P2846fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12420delA; p.K4140fs*15; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.188delA; p.N63fs*13; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11256T>C; p.C3752C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1086T>C; p.D362D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3526C>T; p.R1176*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.11256T>C; p.C3752C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10281G>T; p.L3427F; |
breast | carcinoma |
c.2498A>C; p.K833T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6125G>T; p.G2042V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8234G>A; p.R2745K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12386C>A; p.S4129Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5084C>T; p.T1695I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10454C>A; p.S3485Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10665_10666insT; p.D3556fs*1; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6381C>G; p.D2127E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.98G>A; p.R33Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10822delA; p.M3608fs*4; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9349delA; p.I3117fs*2; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.8696C>T; p.S2899F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.151G>T; p.A51S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1118T>C; p.V373A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12059delA; p.K4020fs*45; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11159C>T; p.T3720M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2173G>A; p.A725T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5330_5331insC; p.L1778fs*66; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9910C>T; p.P3304S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3361C>T; p.R1121C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6902C>A; p.S2301Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1423C>T; p.R475C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8612C>T; p.S2871L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8352T>G; p.F2784L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5981C>T; p.S1994L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9689G>A; p.R3230H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1428C>T; p.S476S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2063C>T; p.A688V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6715C>T; p.R2239C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.12436G>A; p.G4146R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12998C>A; p.S4333Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11539C>A; p.L3847I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8427G>A; p.V2809V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1765G>A; p.A589T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5908A>G; p.N1970D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10749G>A; p.T3583T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4304C>A; p.T1435N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1480G>T; p.A494S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2551+1G>T; p.?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.11156G>A; p.R3719H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7835delA; p.K2612fs*25; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10164C>T; p.N3388N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1587A>G; p.T529T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.11606C>T; p.A3869V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6596C>A; p.T2199N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.10211C>A; p.S3404Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.36G>T; p.R12S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4631C>T; p.S1544L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.11785G>A; p.A3929T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9160T>G; p.F3054V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7470C>T; p.P2490P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6996C>A; p.V2332V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2675T>C; p.L892S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12679G>T; p.D4227Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11381C>A; p.S3794Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8573C>T; p.S2858L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4283C>T; p.A1428V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2756C>T; p.S919L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.556G>A; p.D186N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12409T>G; p.L4137V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8391C>T; p.N2797N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4234C>T; p.L1412L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7186_7188delGAA; p.E2396delE; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5031A>G; p.S1677S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9590C>T; p.P3197L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1916C>T; p.A639V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.882C>T; p.I294I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5417C>A; p.S1806*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.274G>C; p.E92Q; |
breast | carcinoma |
c.9110C>G; p.P3037R; |
breast | carcinoma |
c.4351-2A>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5446A>T; p.T1816S; |
large_intestine | carcinoma; adenocarcinoma |
c.5432C>G; p.T1811S; |
large_intestine | carcinoma; adenocarcinoma |
c.4592C>T; p.T1531M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7805T>G; p.L2602R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11809C>T; p.Q3937*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11333A>C; p.K3778T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8573C>T; p.S2858L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8349T>A; p.D2783E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3298T>G; p.L1100V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2248C>A; p.L750I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.43G>T; p.E15*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.11381C>A; p.S3794Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.12059delA; p.K4020fs*45; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.11155C>T; p.R3719C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9279C>T; p.P3093P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3355A>G; p.K1119E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6173A>C; p.K2058T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5755C>T; p.L1919L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.570G>A; p.S190S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1123G>A; p.A375T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.436A>G; p.M146V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8581A>C; p.T2861P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8612C>T; p.S2871L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10631C>T; p.P3544L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8201C>A; p.S2734Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7136A>G; p.K2379R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4719C>A; p.S1573S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3521G>T; p.R1174I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4856C>T; p.T1619M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12917C>T; p.S4306F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12712A>G; p.T4238A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10769A>G; p.D3590G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6065C>A; p.A2022D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4592C>T; p.T1531M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3991T>A; p.F1331I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12310A>G; p.S4104G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.340G>A; p.A114T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12687C>T; p.S4229S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.986C>G; p.S329*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8018C>T; p.P2673L; |
breast | carcinoma |
c.5370G>A; p.Q1790Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7218T>C; p.Y2406Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.9256G>A; p.G3086R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12703G>C; p.D4235H; |
breast | carcinoma |
c.7894G>C; p.E2632Q; |
breast | carcinoma |
c.9607G>T; p.V3203F; |
breast | carcinoma |
c.10714G>C; p.E3572Q; |
breast | carcinoma |
c.6983G>A; p.R2328H; |
breast | carcinoma |
c.12326C>T; p.A4109V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10316T>C; p.M3439T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.11262A>G; p.G3754G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.9845T>C; p.I3282T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2675T>C; p.L892S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1430G>A; p.G477D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3667C>T; p.P1223S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3985C>T; p.R1329*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10454C>A; p.S3485Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10063T>C; p.S3355P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9845T>G; p.I3282S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7319T>G; p.L2440R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6885A>G; p.E2295E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5513A>G; p.K1838R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.217-2A>G; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1621C>T; p.R541*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11709T>G; p.T3903T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11511A>G; p.G3837G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8928C>T; p.P2976P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7100G>A; p.R2367Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7002C>T; p.I2334I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.862C>T; p.L288F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11256T>C; p.C3752C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12917C>A; p.S4306Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11422C>A; p.L3808M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6455T>G; p.L2152R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1101C>T; p.Y367Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.868C>T; p.R290*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7002C>T; p.I2334I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2879T>C; p.L960P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6563C>A; p.P2188Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5264_5265delTG; p.V1755fs*6; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6582T>C; p.P2194P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1084G>A; p.D362N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12420_12421insA; p.W4141fs*12; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11334delA; p.K3778fs*26; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11256T>C; p.C3752C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11592A>G; p.K3864K; |
urinary_tract; bladder | carcinoma |
c.216G>C; p.Q72H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.11135C>T; p.S3712F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2408C>T; p.A803V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12877G>A; p.V4293I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12110C>T; p.S4037L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12078C>T; p.S4026S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8085T>G; p.I2695M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6982C>T; p.R2328C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6119A>G; p.D2040G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9997A>G; p.T3333A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7680T>C; p.T2560T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2554C>T; p.R852C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8612C>T; p.S2871L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12563A>G; p.D4188G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11933C>G; p.T3978S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3526C>T; p.R1176*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7332C>T; p.H2444H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8441C>A; p.T2814N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11256T>C; p.C3752C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3105C>A; p.P1035P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8251delA; p.I2751fs*21; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.76delA; p.R26fs*21; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6262A>G; p.T2088A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12420delA; p.K4140fs*15; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12059delA; p.K4020fs*45; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.12682G>A; p.D4228N; |
breast | carcinoma |
c.6691A>G; p.N2231D; |
breast | carcinoma |
c.5425T>A; p.S1809T; |
breast | carcinoma |
c.6591A>G; p.S2197S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10152G>C; p.Q3384H; |
urinary_tract; bladder | carcinoma |
c.1118T>C; p.V373A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.11254T>C; p.C3752R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2057G>C; p.R686T; |
breast | carcinoma |
c.1411C>T; p.H471Y; |
breast | carcinoma |
c.12551G>T; p.R4184I; |
breast | carcinoma |
c.3290_3291insA; p.N1097fs*2; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7986C>T; p.A2662A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.387T>G; p.N129K; |
prostate | carcinoma; adenocarcinoma |
c.5407T>C; p.S1803P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.10678C>T; p.R3560W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9199G>A; p.D3067N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9800C>G; p.S3267*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.12205G>A; p.E4069K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7908G>A; p.L2636L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3343G>A; p.E1115K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11026G>C; p.E3676Q; |
urinary_tract; bladder | carcinoma |
c.1436C>A; p.A479D; |
urinary_tract; bladder | carcinoma |
c.2744G>A; p.R915H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.76delA; p.R26fs*21; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1447C>T; p.R483W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1047C>T; p.C349C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9993delA; p.K3331fs*6; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.940G>A; p.E314K; |
prostate | carcinoma |
c.514-1G>A; p.?; |
skin | malignant_melanoma |
c.9241G>A; p.A3081T; |
skin | malignant_melanoma |
c.737G>A; p.G246E; |
skin | malignant_melanoma |
c.12596-1G>A; p.?; |
skin | malignant_melanoma |
c.1657G>A; p.D553N; |
skin | malignant_melanoma |
c.43G>A; p.E15K; |
skin | malignant_melanoma |
c.3103C>T; p.P1035S; 10:61538664-61538664 |
skin | malignant_melanoma |
c.596G>A; p.G199E; |
skin | malignant_melanoma |
c.320G>A; p.G107E; |
skin | malignant_melanoma |
c.2590G>A; p.E864K; |
skin | malignant_melanoma |
c.632G>A; p.R211Q; |
skin | malignant_melanoma |
c.902G>A; p.G301D; |
skin | malignant_melanoma |
c.1363C>T; p.H455Y; |
skin; scalp | malignant_melanoma |
c.1213C>T; p.H405Y; |
skin; scalp | malignant_melanoma |
c.596G>A; p.G199E; |
skin | malignant_melanoma |
c.9430_9431CC>TT; p.P3144F; |
skin | malignant_melanoma |
c.632G>A; p.R211Q; |
skin | malignant_melanoma |
c.515A>G; p.D172G; |
skin | malignant_melanoma |
c.4363G>A; p.D1455N; |
skin | malignant_melanoma |
c.1933G>A; p.D645N; |
skin | malignant_melanoma |
c.12824G>A; p.G4275E; |
skin | malignant_melanoma |
c.8899G>A; p.E2967K; |
skin | malignant_melanoma |
c.10817G>A; p.G3606E; |
skin | malignant_melanoma |
c.5237C>T; p.S1746F; |
skin | malignant_melanoma |
c.4718C>T; p.S1573F; |
skin | malignant_melanoma |
c.1657G>A; p.D553N; |
skin | malignant_melanoma |
c.320G>A; p.G107E; |
skin | malignant_melanoma |
c.252A>T; p.E84D; |
skin | malignant_melanoma |
c.12532_12533GG>AA; p.G4178K; |
skin | malignant_melanoma |
c.8117C>T; p.S2706F; |
skin | malignant_melanoma |
c.596G>A; p.G199E; |
skin | malignant_melanoma |
c.2222G>A; p.G741E; |
skin | malignant_melanoma |
c.6831G>A; p.M2277I; |
skin | malignant_melanoma |
c.2762G>A; p.R921K; |
skin; neck | malignant_melanoma |
c.5995G>A; p.E1999K; |
skin | malignant_melanoma |
c.10006_10007delTT; p.L3336fs*6; |
skin; upper_leg | malignant_melanoma |
c.10942G>A; p.E3648K; |
skin | malignant_melanoma |
c.3103C>T; p.P1035S; 10:61538664-61538664 |
skin | malignant_melanoma |
c.12866G>A; p.G4289E; |
skin | malignant_melanoma |
c.12981A>C; p.K4327N; |
skin | malignant_melanoma |
c.8932G>A; p.G2978S; |
skin; mucosal | malignant_melanoma |
c.8150C>T; p.S2717F; |
skin; mucosal | malignant_melanoma |
c.77G>A; p.R26K; |
skin; mucosal | malignant_melanoma |
c.4631C>T; p.S1544L; |
skin; mucosal | malignant_melanoma |
c.10942G>A; p.E3648K; |
skin; mucosal | malignant_melanoma |
c.12046G>C; p.E4016Q; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.8770C>T; p.P2924S; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.6071C>T; p.S2024F; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.6316G>A; p.D2106N; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.4910C>T; p.S1637L; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.328G>A; p.A110T; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.4030delC; p.Q1344fs*72; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5100C>G; p.L1700L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.9872A>G; p.D3291G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8787A>T; p.L2929F; |
stomach | adenocarcinoma |
c.1879G>A; p.A627T; |
stomach | adenocarcinoma |
c.76delA; p.R26fs*21; |
stomach | adenocarcinoma |