| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4297 |
Name | MLL |
Synonymous | ALL-1|CXXC7|HRX|HTRX1|KMT2A|MLL/GAS7|MLL1A|TET1-MLL|TRX1;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila);MLL;myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) |
Definition | CDK6/MLL fusion protein|CXXC-type zinc finger protein 7|MLL-AF4 der(11) fusion protein|MLL/GAS7 fusion protein|MLL/GMPS fusion protein|histone-lysine N-methyltransferase MLL|lysine N-methyltransferase 2A|trithorax-like protein|zinc finger protein HRX |
Position | 11q23 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MLL | ||
PCGP somatic mutation [Top] | ||
There is no record for MLL | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.6596delC; p.L2200fs*10; |
liver | carcinoma; hepatocellular_carcinoma |
c.4897C>T; p.R1633*; |
large_intestine | carcinoma; adenocarcinoma |
c.1281G>T; p.R427R; |
lung | carcinoma; squamous_cell_carcinoma |
c.9126G>T; p.Q3042H; |
lung | carcinoma; squamous_cell_carcinoma |
c.11801T>A; p.I3934N; |
thyroid | carcinoma; medullary_carcinoma |
c.9577G>A; p.D3193N; |
breast | carcinoma; HER-positive_carcinoma |
c.8598C>G; p.S2866R; |
lung | carcinoma; squamous_cell_carcinoma |
c.6611G>A; p.R2204Q; 11:117878437-117878437 |
lung | carcinoma; adenocarcinoma |
c.8017A>T; p.T2673S; 11:117879843-117879843 |
lung | carcinoma; adenocarcinoma |
c.10240_10241insC; p.S3416fs*10; |
liver | carcinoma; hepatocellular_carcinoma |
c.3941C>T; p.P1314L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7852C>T; p.R2618C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2797C>T; p.R933W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2858C>T; p.T953I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6825T>A; p.N2275K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2798G>A; p.R933Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11626G>A; p.D3876N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4081G>T; p.E1361*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7855C>T; p.R2619C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9251A>G; p.N3084S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7748C>T; p.S2583F; |
lung | carcinoma; adenocarcinoma |
c.203delG; p.G68fs*82; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.11546T>G; p.I3849S; |
stomach | carcinoma; intestinal_adenocarcinoma |
c.8449G>A; p.D2817N; |
pancreas | carcinoma; acinar_carcinoma |
c.10570C>T; p.R3524W; |
pancreas | carcinoma; acinar_carcinoma |
c.4368C>A; p.H1456Q; |
urinary_tract; bladder | carcinoma |
c.4437C>G; p.C1479W; |
urinary_tract; bladder | carcinoma |
c.11348C>G; p.S3783C; |
urinary_tract; bladder | carcinoma |
c.5972_5991del20; p.E1992fs*4; |
urinary_tract; bladder | carcinoma |
c.3173C>G; p.S1058*; |
urinary_tract; bladder | carcinoma |
c.4427_4429delGTC; p.R1478delR; |
urinary_tract; bladder | carcinoma |
c.8647C>G; p.L2883V; |
urinary_tract; bladder | carcinoma |
c.7556C>T; p.T2519I; |
urinary_tract; bladder | carcinoma |
c.4437C>A; p.C1479*; |
urinary_tract; bladder | carcinoma |
c.6473G>A; p.G2158D; 11:117877759-117877759 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1223A>T; p.Q408L; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.8873A>C; p.K2958T; |
eye; uveal_tract | malignant_melanoma |
c.2039C>T; p.S680L; |
oesophagus | carcinoma; adenocarcinoma |
c.11719C>G; p.H3907D; |
oesophagus | carcinoma; adenocarcinoma |
c.448G>C; p.G150R; |
oesophagus | carcinoma; adenocarcinoma |
c.8591G>A; p.G2864D; |
oesophagus | carcinoma; adenocarcinoma |
c.7612G>T; p.A2538S; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.6185G>A; p.R2062H; |
oesophagus | carcinoma; adenocarcinoma |
c.10721C>A; p.T3574K; |
lung | carcinoma; mucoepidermoid_carcinoma |
c.10485delG; p.E3496fs*52; |
liver | carcinoma; hepatocellular_carcinoma |
c.9457T>G; p.L3153V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9182A>G; p.N3061S; |
liver | carcinoma; hepatocellular_carcinoma |
c.3216C>T; p.C1072C; |
liver | carcinoma |
c.7093C>G; p.L2365V; |
liver | carcinoma |
c.7094T>C; p.L2365P; |
liver | carcinoma |
c.4131G>A; p.L1377L; |
liver | carcinoma |
c.3185C>A; p.S1062Y; |
large_intestine; colon | carcinoma |
c.6533T>C; p.V2178A; |
large_intestine; colon | carcinoma |
c.703_704insA; p.I235fs*18; |
lung | carcinoma; adenocarcinoma |
c.2312delC; p.P773fs*8; |
liver | carcinoma |
c.7384C>A; p.P2462T; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.11795G>A; p.R3932H; |
ovary | carcinoma |
c.5953-2A>G; p.?; |
pancreas | other; adenoma |
c.7062delC; p.S2355fs*18; 11:117878886-117878886 |
urinary_tract; bladder | carcinoma |
c.329C>A; p.P110Q; |
lung | carcinoma; adenocarcinoma |
c.6445A>G; p.S2149G; |
lung | carcinoma; adenocarcinoma |
c.1280_1281GG>TT; p.R427>?; |
lung | carcinoma; adenocarcinoma |
c.4282A>G; p.I1428V; |
lung | carcinoma; adenocarcinoma |
c.4115A>C; p.E1372A; |
lung | carcinoma; adenocarcinoma |
c.7098C>T; p.S2366S; |
lung | carcinoma; adenocarcinoma |
c.4739A>T; p.D1580V; |
lung | carcinoma; adenocarcinoma |
c.1200G>C; p.K400N; |
lung | carcinoma; adenocarcinoma |
c.6696C>T; p.T2232T; |
lung | carcinoma; adenocarcinoma |
c.5631G>C; p.L1877F; |
lung | carcinoma; adenocarcinoma |
c.2854G>C; p.D952H; |
lung | carcinoma; adenocarcinoma |
c.2319G>A; p.P773P; |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; classic |
c.4995+1G>A; p.?; |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma |
c.10375C>T; p.L3459F; |
skin; extremity | malignant_melanoma |
c.6905C>T; p.S2302F; |
skin; extremity | malignant_melanoma |
c.4961C>T; p.S1654F; |
skin; trunk | malignant_melanoma |
c.10201delC; p.P3401fs*20; |
skin | malignant_melanoma |
c.11612delG; p.E3872fs*21; |
skin; scalp | malignant_melanoma |
c.1806delT; p.P603fs*20; |
skin; abdomen | malignant_melanoma |
c.10318G>A; p.A3440T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.4234G>A; p.E1412K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4678G>A; p.A1560T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.7383G>T; p.K2461N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.6508C>T; p.P2170S; 11:117878334-117878334 |
skin | malignant_melanoma |
c.3435A>C; p.P1145P; |
autonomic_ganglia | neuroblastoma |
c.2880A>G; p.I960M; 11:117849964-117849964 |
lung | carcinoma; small_cell_carcinoma |
c.7332A>G; p.K2444K; |
prostate | carcinoma |
c.5711C>T; p.A1904V; 11:117873916-117873916 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1264delA; p.I422fs*8; 11:117848348-117848348 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7012A>T; p.T2338S; 11:117878838-117878838 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1058G>A; p.R353Q; 11:117848142-117848142 |
kidney | carcinoma |
c.3960C>T; p.P1320P; 11:117857965-117857965 |
kidney | carcinoma |
c.1291G>A; p.D431N; |
breast | carcinoma; HER-positive_carcinoma |
c.1566G>C; p.E522D; |
breast | carcinoma; HER-positive_carcinoma |
c.11521C>T; p.R3841W; |
prostate | carcinoma |
c.6222C>T; p.C2074C; |
prostate | carcinoma |
c.4219G>T; p.E1407*; |
prostate | carcinoma |
c.5820A>T; p.G1940G; |
prostate | carcinoma |
c.6820G>C; p.G2274R; |
pancreas | NS |
c.7770T>G; p.N2590K; |
pancreas | NS |
c.6070+3A>G; p.?; |
liver | carcinoma |
c.536C>G; p.P179R; |
liver | carcinoma |
c.7752A>G; p.Q2584Q; |
liver | carcinoma |
c.2599A>G; p.S867G; |
liver | carcinoma |
c.9479A>G; p.Q3160R; |
lung | carcinoma; small_cell_carcinoma |
c.1378_1379insA; p.S462fs*19; |
lung | carcinoma; small_cell_carcinoma |
c.4268T>C; p.L1423S; |
lung | carcinoma; small_cell_carcinoma |
c.2880A>G; p.I960M; 11:117849964-117849964 |
lung | carcinoma; small_cell_carcinoma |
c.2348C>A; p.S783Y; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.10224A>G; p.Q3408Q; |
prostate | adenoma |
c.5698C>T; p.H1900Y; |
prostate | adenoma |
c.8969C>A; p.T2990N; |
prostate | adenoma |
c.4087-1G>A; p.?; |
prostate | adenoma |
c.6772C>A; p.Q2258K; |
autonomic_ganglia | neuroblastoma |
c.5068G>C; p.D1690H; 11:117869054-117869054 |
ovary | carcinoma; serous_carcinoma |
c.6988A>G; p.K2330E; 11:117878814-117878814 |
ovary | carcinoma; serous_carcinoma |
c.10239G>A; p.Q3413Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.2364C>A; p.A788A; |
lung | carcinoma; squamous_cell_carcinoma |
c.9387C>G; p.L3129L; |
lung | carcinoma; squamous_cell_carcinoma |
c.4006G>T; p.E1336*; |
lung | carcinoma; squamous_cell_carcinoma |
c.526C>A; p.R176S; |
ovary | carcinoma; serous_carcinoma |
c.4391A>G; p.E1464G; 11:117864597-117864597 |
ovary | carcinoma; serous_carcinoma |
c.1504G>T; p.E502*; 11:117848588-117848588 |
ovary | carcinoma; serous_carcinoma |
c.10648G>C; p.G3550R; 11:117882474-117882474 |
ovary | carcinoma; serous_carcinoma |
c.3634G>C; p.A1212P; |
ovary | carcinoma; serous_carcinoma |
c.9606C>A; p.S3202R; |
ovary | carcinoma; serous_carcinoma |
c.9959G>A; p.S3320N; |
ovary | carcinoma; serous_carcinoma |
c.4438A>G; p.K1480E; |
ovary | carcinoma; serous_carcinoma |
c.2758G>T; p.D920Y; |
lung | carcinoma; adenocarcinoma |
c.8124G>A; p.Q2708Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.10378G>C; p.A3460P; |
lung | carcinoma; adenocarcinoma |
c.5745C>A; p.D1915E; |
lung | carcinoma; squamous_cell_carcinoma |
c.458C>T; p.S153L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7727A>G; p.N2576S; |
lung | carcinoma; adenocarcinoma |
c.11326G>C; p.D3776H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.11194G>C; p.E3732Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.293C>T; p.S98L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5430A>T; p.E1810D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2260T>C; p.S754P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6375T>A; p.P2125P; |
lung | carcinoma; squamous_cell_carcinoma |
c.3127C>G; p.L1043V; |
ovary | carcinoma; serous_carcinoma |
c.7838A>G; p.K2613R; |
lung | carcinoma; squamous_cell_carcinoma |
c.11217C>G; p.H3739Q; |
lung | carcinoma; adenocarcinoma |
c.5048G>C; p.R1683P; |
lung | carcinoma; adenocarcinoma |
c.11167C>G; p.L3723V; |
lung | carcinoma; squamous_cell_carcinoma |
c.10115C>G; p.T3372S; |
lung | carcinoma; squamous_cell_carcinoma |
c.4804C>A; p.L1602I; |
lung | carcinoma; adenocarcinoma |
c.4852G>T; p.A1618S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.7494C>G; p.P2498P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.9948A>T; p.T3316T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.8606C>T; p.S2869L; |
breast | carcinoma |
c.9134A>C; p.K3045T; |
breast | carcinoma |
c.2700_2701insTAAA; p.S901fs*1; |
breast | carcinoma |
c.7478C>T; p.S2493F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6224G>A; p.R2075H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3619C>T; p.Q1207*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7969G>T; p.G2657C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2312delC; p.P773fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3460C>T; p.R1154W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5068G>A; p.D1690N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7444G>A; p.V2482I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11794C>T; p.R3932C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10266G>A; p.A3422A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3583C>T; p.Q1195*; |
breast | carcinoma |
c.2311_2312insC; p.S774fs*12; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10200G>A; p.P3400P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6562C>T; p.R2188*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11590C>T; p.R3864C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11357G>A; p.R3786H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11708G>A; p.R3903H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6235G>A; p.V2079I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6478C>T; p.R2160*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9454G>A; p.G3152R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1143G>A; p.K381K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3819A>G; p.E1273E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5926C>T; p.R1976*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.11577C>T; p.A3859A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7050C>A; p.S2350S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7152T>A; p.D2384E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1601C>T; p.S534L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3180G>T; p.E1060D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5927G>A; p.R1976Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7044C>T; p.I2348I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7989A>G; p.G2663G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10342G>A; p.E3448K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10727C>T; p.S3576F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6279G>T; p.R2093S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1362G>A; p.P454P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4985G>A; p.R1662H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.9886T>C; p.F3296L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2016C>T; p.T672T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4414G>T; p.E1472*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.9284C>A; p.P3095Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.6738C>A; p.V2246V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1341G>A; p.P447P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2207G>T; p.R736M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.10127G>A; p.G3376D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7074G>A; p.S2358S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.11868C>G; p.P3956P; |
breast | carcinoma |
c.738G>T; p.K246N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3190C>T; p.R1064*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3517T>C; p.C1173R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3309G>T; p.K1103N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3451C>T; p.R1151*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4928C>A; p.S1643Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6737T>G; p.V2246G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6827A>C; p.K2276T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10966C>T; p.R3656W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7074G>A; p.S2358S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1279C>T; p.R427W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4992G>A; p.R1664R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6278G>T; p.R2093M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7135C>T; p.R2379*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8379A>G; p.G2793G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2698C>T; p.Q900*; |
breast | carcinoma |
c.4101G>A; p.P1367P; |
breast | carcinoma |
c.3766A>C; p.K1256Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8836C>T; p.P2946S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11210C>T; p.A3737V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.760A>C; p.K254Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8069C>A; p.S2690Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1182G>A; p.L394L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7829G>A; p.G2610D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2039C>T; p.S680L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4594C>T; p.R1532C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9301A>C; p.K3101Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4400T>C; p.L1467P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5736A>G; p.E1912E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9587delT; p.L3197fs*15; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3960C>A; p.P1320P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5712T>C; p.A1904A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9468G>C; p.M3156I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5022C>T; p.P1674P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8354C>A; p.S2785Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11603C>A; p.T3868N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9139G>A; p.V3047M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7864C>T; p.R2622C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7544C>A; p.P2515Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.10346A>C; p.H3449P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6150-1G>A; p.?; |
breast | carcinoma |
c.5111_5136del26; p.P1705fs*15; |
breast | carcinoma |
c.9168G>A; p.P3056P; |
breast | carcinoma |
c.4330G>C; p.E1444Q; |
urinary_tract; bladder | carcinoma |
c.3918G>A; p.P1306P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.8662G>T; p.E2888*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6562C>T; p.R2188*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4371G>T; p.K1457N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.11656C>T; p.R3886*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10815G>A; p.G3605G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4697G>A; p.G1566E; |
urinary_tract; bladder | carcinoma |
c.8293G>C; p.E2765Q; |
urinary_tract; bladder | carcinoma |
c.8515G>A; p.D2839N; |
urinary_tract; bladder | carcinoma |
c.7974G>C; p.K2658N; |
urinary_tract; bladder | carcinoma |
c.7516G>A; p.E2506K; |
urinary_tract; bladder | carcinoma |
c.9838C>T; p.R3280*; |
urinary_tract; bladder | carcinoma |
c.3005C>G; p.S1002C; |
breast | carcinoma |
c.8019T>C; p.T2673T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1059A>G; p.E353E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9863G>T; p.R3288I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7516G>C; p.E2506Q; |
urinary_tract; bladder | carcinoma |
c.2097T>C; p.A699A; |
prostate | carcinoma; adenocarcinoma |
c.6138T>A; p.P2046P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.10841T>C; p.L3614P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.5068G>T; p.D1690Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8818A>G; p.T2940A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.6472G>A; p.G2158S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8019T>C; p.T2673T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6661A>G; p.R2221G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3799G>A; p.V1267I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5291G>A; p.R1764H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5810delA; p.K1938fs*43; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.8408C>T; p.S2803L; |
urinary_tract; bladder | carcinoma |
c.11261A>G; p.N3754S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.7203C>A; p.T2401T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4432C>T; p.R1478C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1219C>T; p.R407*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3455C>T; p.S1152L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.711T>C; p.H237H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8312C>A; p.S2771Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.10067C>T; p.A3356V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3960C>A; p.P1320P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.10817A>G; p.Q3606R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2312delC; p.P773fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7012A>T; p.T2338S; 11:117878838-117878838 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2637G>A; p.E879E; |
urinary_tract; bladder | carcinoma |
c.3493G>A; p.E1165K; |
urinary_tract; bladder | carcinoma |
c.517C>T; p.R173*; |
urinary_tract; bladder | carcinoma |
c.1442G>A; p.S481N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2312delC; p.P773fs*8; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4396_4402delCCTCTGG; p.P1466fs*118; |
breast | carcinoma |
c.4404_4421del18; p.D1469_W1474delDQLENW; |
breast | carcinoma |
c.4391A>G; p.E1464G; 11:117864597-117864597 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11102G>A; p.R3701Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.9255G>A; p.M3085I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.11456G>A; p.R3819H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5712T>C; p.A1904A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5676T>G; p.Y1892*; |
urinary_tract; bladder | carcinoma |
c.5069A>G; p.D1690G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2584C>T; p.R862*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.262T>C; p.S88P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3948delA; p.E1318fs*38; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5710G>T; p.A1904S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.9299delA; p.I3102fs*3; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4392G>A; p.E1464E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.834C>G; p.L278L; |
prostate | carcinoma |
c.5447_5449delAGC; p.Q1816delQ; |
prostate | carcinoma |
c.5563C>T; p.R1855*; |
skin | malignant_melanoma |
c.4060C>T; p.P1354S; |
skin | malignant_melanoma |
c.905G>A; p.R302Q; |
skin | malignant_melanoma |
c.6782C>T; p.S2261F; |
skin | malignant_melanoma |
c.7111C>T; p.H2371Y; |
skin | malignant_melanoma |
c.5519C>T; p.P1840L; |
skin | malignant_melanoma |
c.9722C>T; p.S3241L; |
skin | malignant_melanoma |
c.3196C>T; p.P1066S; |
skin; mucosal | malignant_melanoma |
c.4622C>T; p.P1541L; |
skin; mucosal | malignant_melanoma |
c.11594C>T; p.S3865F; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.3493G>C; p.E1165Q; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.770A>G; p.K257R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1623A>T; p.R541S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3495G>A; p.E1165E; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3139G>T; p.D1047Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1507C>T; p.R503W; |
stomach | adenocarcinoma |