| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 139285 |
Name | FAM123B |
Synonymous | AMER1|OSCS|WTX;family with sequence similarity 123B;FAM123B;family with sequence similarity 123B |
Definition | Wilms tumor gene on the X chromosome protein|Wilms tumor on the X|adenomatous polyposis coli membrane recruitment 1|protein FAM123B |
Position | Xq11.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for FAM123B | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
FAM123B_E400fs; chrX; 63411969 |
IFRAMESHIFT; -; -/T; SOMATIC | RHB; VALID; WGS |
FAM123B_E400fs; chrX; 63411969 |
IFRAMESHIFT; -; -/T; SOMATIC | RHB; VALID; WGS |
FAM123B_E400fs; chrX; 63411969 |
IFRAMESHIFT; -; -/T; SOMATIC | RHB; VALID; WGS |
FAM123B_E400fs; chrX; 63411969 |
IFRAMESHIFT; -; -/T; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
FAM123B_E400fs; chrX; 63411969 |
IFRAMESHIFT; -; -/T; SOMATIC | RHB; PUTATIVE-HQ; WGS |
FAM123B_E400fs; chrX; 63411969 |
IFRAMESHIFT; -; -/T; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
FAM123B_E400fs; chrX; 63411969 |
IFRAMESHIFT; -; -/T; SOMATIC | RHB; PUTATIVE-HQ; WGS |
FAM123B_L773M; chrX; 63410850 |
SUB; MISSENSE; G; G/T; SOMATIC | T-ALL; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1225C>T; p.L409L; |
breast | carcinoma; HER-positive_carcinoma |
c.1000G>T; p.E334*; 23:63328892-63328892 |
kidney | Wilms_tumour |
c.1648delC; p.P550fs*12; 23:63328244-63328244 |
kidney | Wilms_tumour |
c.876G>C; p.K292N; 23:63329016-63329016 |
kidney | Wilms_tumour |
c.1069delA; p.K357fs*7; 23:63328823-63328823 |
kidney | Wilms_tumour |
c.438_439insT; p.V147fs*11; 23:63329453-63329454 |
kidney | Wilms_tumour |
c.1072C>T; p.R358*; 23:63328820-63328820 |
kidney | Wilms_tumour |
c.1072C>T; p.R358*; 23:63328820-63328820 |
kidney | Wilms_tumour |
c.908G>A; p.G303D; |
ovary | other; neoplasm |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.629C>G; p.S210*; 23:63329263-63329263 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.233_234GC>T; p.S78fs*22; 23:63329658-63329659 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.629C>G; p.S210*; 23:63329263-63329263 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.629C>G; p.S210*; 23:63329263-63329263 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1670_1671delAG; p.E557fs*22; 23:63328221-63328222 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1117G>A; p.A373T; 23:63328775-63328775 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1084delC; p.L362fs*2; 23:63328808-63328808 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1057C>T; p.R353*; 23:63328835-63328835 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1072C>T; p.R358*; 23:63328820-63328820 |
kidney | Wilms_tumour |
c.85G>A; p.A29T; 23:63329807-63329807 |
kidney | Wilms_tumour |
c.85G>A; p.A29T; 23:63329807-63329807 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.135C>T; p.S45S; 23:63329757-63329757 |
kidney | Wilms_tumour |
c.1006_1007insAGGA; p.D336fs*43; 23:63328885-63328886 |
kidney | Wilms_tumour |
c.1057C>T; p.R353*; 23:63328835-63328835 |
kidney | Wilms_tumour |
c.1057C>T; p.R353*; 23:63328835-63328835 |
kidney | Wilms_tumour |
c.519_519delT; p.F173fs*36; 23:63329373-63329373 |
large_intestine | carcinoma; adenocarcinoma |
c.519_519delT; p.F173fs*36; 23:63329373-63329373 |
large_intestine | carcinoma; adenocarcinoma |
c.1814G>A; p.G605D; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour |
c.1057C>T; p.R353*; 23:63328835-63328835 |
kidney | Wilms_tumour |
c.867_867delA; p.E291fs*3; 23:63329025-63329025 |
kidney | Wilms_tumour; bilateral |
c.1072C>T; p.R358*; 23:63328820-63328820 |
kidney | Wilms_tumour; unilateral |
c.565C>T; p.Q189*; 23:63329327-63329327 |
kidney | Wilms_tumour; unilateral |
c.85G>A; p.A29T; 23:63329807-63329807 |
kidney | Wilms_tumour; unilateral |
c.1072C>T; p.R358*; 23:63328820-63328820 |
kidney | Wilms_tumour; unilateral |
c.1289_1289delC; p.P431fs*18; 23:63328603-63328603 |
kidney | Wilms_tumour; unilateral |
c.438_439insT; p.V147fs*11; 23:63329453-63329454 |
kidney | Wilms_tumour; unilateral |
c.1777G>T; p.A593S; |
lung | carcinoma; small_cell_carcinoma |
c.224G>T; p.G75V; |
lung | carcinoma; small_cell_carcinoma |
c.223G>A; p.G75R; |
lung | carcinoma; small_cell_carcinoma |
c.529C>T; p.R177C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1150G>T; p.E384*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.314G>A; p.G105D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.730G>T; p.E244*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1891C>T; p.R631*; |
large_intestine | carcinoma; adenocarcinoma |
c.2284G>T; p.E762*; |
liver | carcinoma |
c.2283G>T; p.K761N; |
liver | carcinoma |
c.719delC; p.S240fs*42; |
liver | carcinoma |
c.1250C>T; p.P417L; |
liver | carcinoma |
c.1744G>T; p.E582*; 23:63328148-63328148 |
large_intestine; colon | carcinoma |
c.1386A>G; p.E462E; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1213G>A; p.D405N; |
pancreas | other; adenoma |
c.1740C>T; p.A580A; |
skin; leg | malignant_melanoma; superficial_spreading |
c.2320G>C; p.V774L; |
lung | carcinoma; adenocarcinoma |
c.1724G>A; p.R575Q; |
lung | carcinoma; adenocarcinoma |
c.1512C>T; p.A504A; |
lung | carcinoma; adenocarcinoma |
c.419G>T; p.G140V; |
lung | carcinoma; adenocarcinoma |
c.1677A>T; p.E559D; |
lung | carcinoma; adenocarcinoma |
c.1658C>T; p.A553V; |
lung | carcinoma; adenocarcinoma |
c.1003C>G; p.Q335E; |
lung | carcinoma; adenocarcinoma |
c.927G>T; p.L309L; |
lung | carcinoma; adenocarcinoma |
c.1995C>G; p.G665G; |
lung | carcinoma; adenocarcinoma |
c.1210G>T; p.D404Y; |
lung | carcinoma; adenocarcinoma |
c.28C>T; p.Q10*; |
skin; trunk | malignant_melanoma |
c.1057C>T; p.R353*; 23:63328835-63328835 |
large_intestine; colon | adenoma |
c.1826A>T; p.Y609F; 23:63328066-63328066 |
lung | carcinoma; non_small_cell_carcinoma |
c.137C>T; p.S46L; 23:63329755-63329755 |
lung | carcinoma; non_small_cell_carcinoma |
c.1891C>A; p.R631R; |
breast | carcinoma |
c.2138A>T; p.D713V; |
NS | NS |
c.344G>A; p.G115D; |
lung | carcinoma; small_cell_carcinoma |
c.633C>A; p.A211A; |
lung | carcinoma; small_cell_carcinoma |
c.597G>T; p.R199S; |
lung | carcinoma; small_cell_carcinoma |
c.1922G>A; p.R641Q; |
large_intestine; colon | adenoma |
c.2317C>A; p.L773M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1643C>T; p.S548F; |
prostate | carcinoma |
c.?; p.Q222*; |
kidney | Wilms_tumour; bilateral |
c.?; p.R358*; |
kidney | Wilms_tumour; unilateral |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour; unilateral |
c.1_2415del2415; p.0?; 23:63322722-63329891 |
kidney | Wilms_tumour; unilateral |
c.?; p.T429I; |
kidney | Wilms_tumour; unilateral |
c.1103G>A; p.G368D; |
autonomic_ganglia | neuroblastoma |
c.1304G>T; p.G435V; |
lung | carcinoma; adenocarcinoma |
c.629C>T; p.S210L; |
ovary | carcinoma; serous_carcinoma |
c.297G>T; p.L99L; 23:63329595-63329595 |
ovary | carcinoma; serous_carcinoma |
c.1570T>A; p.C524S; |
ovary | carcinoma; serous_carcinoma |
c.245G>T; p.G82V; |
lung | carcinoma; squamous_cell_carcinoma |
c.2088G>C; p.R696S; |
lung | carcinoma; squamous_cell_carcinoma |
c.439G>T; p.V147L; |
lung | carcinoma; squamous_cell_carcinoma |
c.428G>T; p.C143F; |
lung | carcinoma; squamous_cell_carcinoma |
c.278G>T; p.S93I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1234A>C; p.T412P; |
lung | carcinoma; squamous_cell_carcinoma |
c.382C>T; p.P128S; |
lung | carcinoma; adenocarcinoma |
c.2078C>G; p.P693R; |
lung | carcinoma; adenocarcinoma |
c.1737G>T; p.E579D; |
lung | carcinoma; adenocarcinoma |
c.2339G>T; p.G780V; |
lung | carcinoma; adenocarcinoma |
c.1185G>T; p.E395D; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.61C>A; p.R21S; |
lung | carcinoma; adenocarcinoma |
c.787G>C; p.E263Q; |
lung | carcinoma; adenocarcinoma |
c.1987G>A; p.V663M; |
lung | carcinoma; adenocarcinoma |
c.276G>T; p.K92N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.397G>T; p.A133S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1763C>A; p.A588D; |
lung | carcinoma; adenocarcinoma |
c.634C>T; p.P212S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2188C>T; p.P730S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1776G>A; p.E592E; |
lung | carcinoma; squamous_cell_carcinoma |
c.1302C>A; p.H434Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.288C>A; p.H96Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1332T>A; p.S444S; |
lung | carcinoma; adenocarcinoma |
c.1269G>T; p.L423L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.239G>T; p.G80V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1849G>T; p.E617*; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1412A>G; p.Y471C; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.771T>C; p.D257D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1524C>A; p.F508L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.532C>T; p.R178C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1849G>T; p.E617*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1134T>C; p.D378D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1720C>T; p.R574W; |
breast | carcinoma |
c.103G>A; p.E35K; |
breast | carcinoma |
c.1633T>C; p.F545L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.949A>G; p.T317A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1165G>T; p.E389*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1072C>T; p.R358*; 23:63328820-63328820 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1384G>T; p.E462*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1072C>T; p.R358*; 23:63328820-63328820 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2104G>T; p.E702*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1756C>T; p.R586*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.785T>C; p.M262T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1489C>T; p.R497*; 23:63328403-63328403 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1489C>T; p.R497*; 23:63328403-63328403 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2252_2253insC; p.E752fs*1; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1938G>A; p.R646R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.519delT; p.F173fs*36; |
large_intestine; colon | NS |
c.295C>A; p.L99M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1801C>T; p.R601*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1057C>T; p.R353*; 23:63328835-63328835 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.526A>G; p.I176V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1108_1109insG; p.E370fs*8; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1405G>T; p.E469*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.473A>C; p.K158T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1043delG; p.G348fs*16; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.643C>T; p.P215S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1921C>T; p.R641*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1621A>C; p.N541H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1049G>A; p.R350K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1876C>T; p.R626*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1459C>T; p.L487L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1219G>T; p.E407*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.674G>T; p.R225I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1206delA; p.D403fs*4; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.519delT; p.F173fs*36; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1384G>T; p.E462*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1072C>T; p.R358*; 23:63328820-63328820 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.478C>T; p.P160S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1137C>T; p.D379D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.703C>A; p.P235T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.374G>A; p.C125Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.868G>C; p.G290R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1895A>T; p.E632V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.594G>T; p.E198D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.533G>A; p.R178H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.519_520insT; p.S174fs*1; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2110C>T; p.R704C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1801C>T; p.R601*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.133T>C; p.S45P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1979G>A; p.G660D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.87C>T; p.A29A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1126G>A; p.D376N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1617C>A; p.F539L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.456G>T; p.E152D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2402G>A; p.C801Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2293G>A; p.A765T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1720C>T; p.R574W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1118C>T; p.A373V; |
breast | carcinoma |
c.989A>C; p.D330A; |
breast | carcinoma |
c.1889C>T; p.A630V; |
breast | carcinoma |
c.2140C>G; p.Q714E; |
breast | carcinoma |
c.530G>A; p.R177H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1757G>A; p.R586Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.585G>T; p.K195N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.28C>T; p.Q10*; |
urinary_tract; bladder | carcinoma |
c.1147G>T; p.E383*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.133T>C; p.S45P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1670_1671delAG; p.E557fs*22; 23:63328221-63328222 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.621C>T; p.H207H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1058G>T; p.R353L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1864G>T; p.E622*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1058G>A; p.R353Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.939delT; p.F313fs*4; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.632C>T; p.A211V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1069A>G; p.K357E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.19G>T; p.E7*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2349T>C; p.F783F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1384G>T; p.E462*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.185G>A; p.G62D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1591C>T; p.R531*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.135C>A; p.S45S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1230G>A; p.W410*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1228delT; p.W410fs*12; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.331_332insCACA; p.S111fs*3; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1452_1476del25; p.E485fs*48; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.296T>C; p.L99P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.235A>G; p.K79E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1057C>T; p.R353*; 23:63328835-63328835 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1524C>T; p.F508F; |
breast | carcinoma |
c.296T>C; p.L99P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.177C>G; p.L59L; |
cervix | carcinoma; squamous_cell_carcinoma |
c.592G>A; p.E198K; |
urinary_tract; bladder | carcinoma |
c.1001A>G; p.E334G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1757G>A; p.R586Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.228A>G; p.G76G; |
prostate | carcinoma; adenocarcinoma |
c.1591C>A; p.R531R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1106G>A; p.G369E; |
stomach | adenocarcinoma |