| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7490 |
Name | WT1 |
Synonymous | AWT1|EWS-WT1|GUD|NPHS4|WAGR|WIT-2|WT33;Wilms tumor 1;WT1;Wilms tumor 1 |
Definition | Wilms tumor protein|amino-terminal domain of EWS|last three zinc fingers of the DNA-binding domain of WT1 |
Position | 11p13 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for WT1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
WT1_R380fs; chr11; 32417914 |
IFRAMESHIFT; -; -/CAAGG; SOMATIC | T-ALL; VALID; WGS |
WT1_G447C; chr11; 32414212 |
SUB; MISSENSE; C; C/A; SOMATIC | T-ALL; VALID; |
WT1_R370fs; chr11; 32417943 |
IFRAMESHIFT; -; -/A; SOMATIC | T-ALL; VALID; |
WT1_R369fs; chr11; 32417945 |
IFRAMESHIFT; -; -/GTATAAGGTCGGG; SOMATIC | T-ALL; VALID; |
WT1_R380fs; chr11; 32417914 |
IFRAMESHIFT; -; -/ACCCC; SOMATIC | T-ALL; VALID; |
WT1_R380G; chr11; 32417914 |
SUB; MISSENSE; G; G/C; SOMATIC | T-ALL; VALID; |
WT1_V379fs; chr11; 32417915 |
IFRAMESHIFT; -; -/C; SOMATIC | T-ALL; VALID; |
WT1_C350R; chr11; 32421544 |
SUB; MISSENSE; A; A/G; SOMATIC | T-ALL; VALID; |
WT1_R370fs; chr11; 32417943 |
IFRAMESHIFT; -; -/A; SOMATIC | T-ALL; VALID; |
WT1_P288fs; chr11; 32449510 |
IFRAMESHIFT; -; -/A; SOMATIC | T-ALL; VALID; |
WT1_S381*; chr11; 32417910 |
SUB; NONSENSE; G; G/T; SOMATIC | T-ALL; VALID; |
WT1_R369fs; chr11; 32417946 |
IFRAMESHIFT; -; -/CATTCGCT; SOMATIC | T-ALL; VALID; |
WT1_V379fs; chr11; 32417915 |
IFRAMESHIFT; -; -/C; SOMATIC | T-ALL; VALID; |
WT1_V379fs; chr11; 32417916 |
IFRAMESHIFT; -; -/AGGTTCA; SOMATIC | T-ALL; VALID; |
WT1_R370fs; chr11; 32417944 |
IFRAMESHIFT; -; -/TGTTAGCT; SOMATIC | T-ALL; VALID; |
WT1_R380fs; chr11; 32417914 |
IFRAMESHIFT; -; -/ACCCC; SOMATIC | T-ALL; VALID; |
WT1_RinsT377; chr11; 32417923 |
IPROTEINI-; -/CCT; SOMATIC | T-ALL; VALID; |
WT1_RinsT377; chr11; 32417923 |
IPROTEINI-; -/CCT; SOMATIC | T-ALL; VALID; |
WT1_V368fs; chr11; 32417948 |
IFRAMESHIFT; -; -/GTAA; SOMATIC | T-ALL; VALID; |
WT1_RinsT377; chr11; 32417923 |
IPROTEINI-; -/CCT; SOMATIC | T-ALL; VALID; |
WT1_R370fs; chr11; 32417942 |
IFRAMESHIFT; -; -/ACGG; SOMATIC | T-ALL; VALID; |
WT1_R370fs; chr11; 32417944 |
IFRAMESHIFT; -; -/TGTTAGCT; SOMATIC | T-ALL; VALID; |
WT1_R370fs; chr11; 32417943 |
IFRAMESHIFT; -; -/A; SOMATIC | T-ALL; VALID; |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.?_?del?; p.0?; |
kidney | Wilms_tumour |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.900_937del38; p.R301fs*3; 11:32374487-32374524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related |
c.1296_1297insC; p.R433fs*19; 11:32367233-32367234 |
kidney | Wilms_tumour; unilateral |
c.1298_1299delGC; p.R433fs*18; 11:32367231-32367232 |
kidney | Wilms_tumour; unilateral |
c.1168C>T; p.R390*; 11:32370154-32370154 |
kidney | Wilms_tumour; unilateral |
c.483_484insCGGT; p.H162fs*19; 11:32406700-32406701 |
kidney | Wilms_tumour; unilateral |
c.483_484insCGGT; p.H162fs*19; 11:32406700-32406701 |
kidney | other; nephrogenic_rest |
c.461T>C; p.F154S; 11:32406723-32406723 |
kidney | Wilms_tumour; unilateral |
c.461T>C; p.F154S; 11:32406723-32406723 |
kidney | other; nephrogenic_rest |
c.1168C>T; p.R390*; 11:32370154-32370154 |
kidney | Wilms_tumour; unilateral |
c.1153_1159TGTAAAA>18; p.C385fs*6; 11:32370163-32370169 |
kidney | Wilms_tumour; unilateral |
c.1084C>T; p.R362*; 11:32370839-32370839 |
kidney | Wilms_tumour; unilateral |
c.581_582insGGGGGCT; p.V195fs*32; 11:32406164-32406165 |
kidney | Wilms_tumour; unilateral |
c.1085_1093GAAGGTTTT>AC; p.R362fs*17; 11:32370830-32370838 |
kidney | Wilms_tumour; unilateral |
c.1084C>T; p.R362*; 11:32370839-32370839 |
kidney | Wilms_tumour; unilateral |
c.1013C>A; p.S338Y; 11:32374411-32374411 |
kidney | Wilms_tumour; unilateral |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.363_364insA; p.S122fs*9; 11:32412900-32412901 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.900_901insAAGTC; p.R301fs*8; 11:32374523-32374524 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.905_906insGCCG; p.V303fs*15; 11:32374518-32374519 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1168C>T; p.R390*; 11:32370154-32370154 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1096C>T; p.R366C; 11:32370827-32370827 |
kidney | Wilms_tumour; unilateral |
c.80_83delCTGT; p.P27fs*62; 11:32413181-32413184 |
kidney | Wilms_tumour |
c.231_264del34; p.W78fs*1; 11:32413000-32413033 |
kidney | Wilms_tumour |
c.345_363del19; p.P117fs*95; 11:32412901-32412919 |
kidney | Wilms_tumour |
c.921_922ins17; p.P308fs*5; 11:32374502-32374503 |
kidney | Wilms_tumour; unilateral |
c.817A>G; p.S273G; 11:32378147-32378147 |
peritoneum | mesothelioma; multicystic |
c.1045+?delC; p.?; |
pleura | mesothelioma; biphasic |
c.1045+?delC; p.?; |
pleura | mesothelioma; sarcomatous-fibrous |
c.1180C>T; p.R394W; 11:32370142-32370142 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage |
c.906_907insT; p.V303fs*14; 11:32374517-32374518 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.844T>C; p.C282R; 11:32378120-32378120 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.442_667del226; p.G148fs*7; |
kidney | Wilms_tumour; unilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour |
c.?_?del?; p.0?; |
kidney | Wilms_tumour |
c.1154G>A; p.C385Y; 11:32370168-32370168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.797A>G; p.N266S; 11:32394612-32394612 |
kidney | Wilms_tumour; unilateral |
c.904delC; p.R302fs*5; 11:32374520-32374520 |
kidney | Wilms_tumour |
c.813_814insTACG; p.E272fs*5; 11:32378150-32378151 |
kidney | Wilms_tumour; unilateral |
c.901C>T; p.R301*; 11:32374523-32374523 |
kidney | Wilms_tumour; unilateral |
c.919_934del16; p.A307fs*69; 11:32374490-32374505 |
kidney | Wilms_tumour; unilateral |
c.1115_1116insGA; p.H373fs*9; 11:32370807-32370808 |
kidney | Wilms_tumour; unilateral |
c.602G>A; p.G201D; 11:32406144-32406144 |
kidney | Wilms_tumour; unilateral |
c.1180C>T; p.R394W; 11:32370142-32370142 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.1183_1184ins16; p.D396fs*18; 11:32370138-32370139 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.714G>A; p.W238*; 11:32395731-32395731 |
kidney | Wilms_tumour; bilateral |
c.1136_1228del93; p.V380_S410del; 11:32370094-32370186 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.?_?del?; p.0?; |
kidney | Wilms_tumour; unilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour; unilateral |
c.1117C>T; p.H373Y; 11:32370806-32370806 |
kidney | Wilms_tumour |
c.372_376delGGCCA; p.A125fs*4; 11:32412888-32412892 |
kidney | Wilms_tumour |
c.1168C>T; p.R390*; 11:32370154-32370154 |
kidney | Wilms_tumour |
c.455_459delTCACC; p.T153fs*25; 11:32406725-32406729 |
kidney | Wilms_tumour |
c.541C>T; p.P181S; 11:32406643-32406643 |
kidney | Wilms_tumour |
c.566-20G>T; p.?; 11:32406200-32406200 |
kidney | Wilms_tumour; bilateral |
c.566-59insA; p.?; 11:32406238-32406239 |
kidney | Wilms_tumour |
c.927_956>CGTAC; p.L310fs*63; 11:32374468-32374497 |
kidney | Wilms_tumour; bilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour; bilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour; bilateral |
c.1297_1298insT; p.R433fs*19; 11:32367232-32367233 |
kidney | Wilms_tumour; unilateral |
c.1180C>G; p.R394G; 11:32370142-32370142 |
kidney | Wilms_tumour; unilateral |
c.527_528insTC; p.K177fs*42; 11:32406656-32406657 |
kidney | Wilms_tumour; unilateral |
c.1291_1297TTAGTCC>CATGCCCG; p.L431fs*21; 11:32367233-32367239 |
kidney | Wilms_tumour; unilateral |
c.1112A>G; p.K371R; 11:32370811-32370811 |
kidney | Wilms_tumour; unilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour; unilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour; unilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour; unilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour; unilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour; unilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour; unilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour; unilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour; unilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour; unilateral |
c.?; p.R301*; |
kidney | Wilms_tumour |
c.?; p.R433C; |
kidney | Wilms_tumour |
c.137C>A; p.S46*; 11:32413127-32413127 |
kidney | other; nephrogenic_rest |
c.1214_1215insA; p.H405fs*4; 11:32370107-32370108 |
kidney | other; nephrogenic_rest |
c.137C>A; p.S46*; 11:32413127-32413127 |
kidney | other; nephrogenic_rest |
c.1214_1215insA; p.H405fs*4; 11:32370107-32370108 |
kidney | other; nephrogenic_rest |
c.1037A>G; p.K346R; 11:32374387-32374387 |
kidney | Wilms_tumour |
c.?_?del?; p.0?; |
kidney | Wilms_tumour |
c.857A>G; p.Y286C; |
lung | carcinoma; squamous_cell_carcinoma |
c.904_905insCGAC; p.R302fs*16; 11:32374519-32374520 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.917_918ins13; p.A307fs*14; 11:32374506-32374507 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.917_918ins13; p.A307fs*14; 11:32374506-32374507 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.931_932insACTCTTG; p.V311fs*8; 11:32374492-32374493 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.929_930insCT; p.V311fs*71; 11:32374494-32374495 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.934_934C>GG; p.R312fs*5; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.934_935insTCTTGTAC; p.R312fs*72; 11:32374489-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.936_937ins13; p.S313fs*8; 11:32374487-32374488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.935_936ins10; p.A314fs*6; 11:32374488-32374489 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939ins10; p.A314fs*6; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insC; p.A314fs*3; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.944_945ins10; p.E316fs*4; 11:32374479-32374480 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.937_938insGTACGGT; p.S313fs*6; 11:32374486-32374487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938C>A; p.S313*; 11:32374486-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.906_907insT; p.V303fs*14; 11:32374517-32374518 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.933_934ins10; p.R312fs*8; 11:32374490-32374491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1169_1170GA>CT; p.R390P; 11:32370152-32370153 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1181G>C; p.R394P; 11:32370141-32370141 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1186G>C; p.D396H; 11:32370136-32370136 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1189C>G; p.H397D; 11:32370133-32370133 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1191C>A; p.H397Q; 11:32370131-32370131 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1181G>A; p.R394Q; 11:32370141-32370141 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.937_938insTGTACGGT; p.S313fs*71; 11:32374486-32374487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.172delC; p.P58fs*32; 11:32413092-32413092 |
kidney | Wilms_tumour; bilateral |
c.172delC; p.P58fs*32; 11:32413092-32413092 |
kidney | Wilms_tumour; bilateral |
c.1186G>A; p.D396N; 11:32370136-32370136 |
kidney | Wilms_tumour; bilateral |
c.1186G>A; p.D396N; 11:32370136-32370136 |
kidney | Wilms_tumour; bilateral |
c.?_?del?; p.0?; |
kidney | Wilms_tumour |
c.?_?del?; p.0?; |
kidney | Wilms_tumour |
c.?_?del?; p.0?; |
kidney | Wilms_tumour |
c.590delC; p.P198fs*20; 11:32406156-32406156 |
kidney | Wilms_tumour |
c.938_939insNNNNNNNN; p.?fs; 11:32374485-32374486 |
kidney | Wilms_tumour |
c.938C>A; p.S313*; 11:32374486-32374486 |
kidney | Wilms_tumour |
c.483_484insCA; p.P164fs*55; 11:32406700-32406701 |
kidney | Wilms_tumour |
c.895G>T; p.D299Y; 11:32374529-32374529 |
kidney | Wilms_tumour |
c.1168C>T; p.R390*; 11:32370154-32370154 |
kidney | Wilms_tumour |
c.204_206TCA>CC; p.H69fs*21; 11:32413058-32413060 |
kidney | Wilms_tumour |
c.1021C>T; p.Q341*; 11:32374403-32374403 |
kidney | Wilms_tumour |
c.319T>A; p.C107S; 11:32412945-32412945 |
kidney | Wilms_tumour |
c.144C>A; p.Y48*; 11:32413120-32413120 |
kidney | Wilms_tumour |
c.934_934C>TAG; p.R312*; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.943T>C; p.S315P; 11:32374481-32374481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.905_905G>CC; p.R302fs*15; 11:32374519-32374519 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939ins37; p.A314fs*15; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.901C>T; p.R301*; 11:32374523-32374523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.934_935insA; p.R312fs*5; 11:32374489-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.979T>C; p.Y327H; 11:32374445-32374445 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.920_932del13; p.A307fs*70; 11:32374492-32374504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.934C>G; p.R312G; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.524C>A; p.S175*; 11:32406660-32406660 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.584_585insCCGG; p.P196fs*30; 11:32406161-32406162 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938C>A; p.S313*; 11:32374486-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insCGGTC; p.A314fs*69; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insTC; p.A314fs*68; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.905_905G>CC; p.R302fs*15; 11:32374519-32374519 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1009_1010ins76; p.L337fs*5; 11:32374414-32374415 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.901C>T; p.R301*; 11:32374523-32374523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.904_905insGA; p.P304fs*4; 11:32374519-32374520 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.933delA; p.R312fs*69; 11:32374491-32374491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1188_1189ins17; p.?fs; 11:32370133-32370134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1186G>A; p.D396N; 11:32370136-32370136 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.901_901C>GCG; p.R301fs*7; 11:32374523-32374523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.905_905G>CC; p.R302fs*15; 11:32374519-32374519 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.926_935CTCTTGTACG>12; p.?fs; 11:32374489-32374498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.905_906insTT; p.V303fs*5; 11:32374518-32374519 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.895-1_901GGATGTGC>CAACGGG; p.?; 11:32374523-32374530 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.937_938insG; p.S313fs*4; 11:32374486-32374487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.905_906ins17; p.?fs; 11:32374518-32374519 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.924_925insGG; p.T309fs*73; 11:32374499-32374500 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.934_935insG; p.S313fs*4; 11:32374489-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.924_925insGGTT; p.T309fs*9; 11:32374499-32374500 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insG; p.A314fs*3; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.933delA; p.R312fs*69; 11:32374491-32374491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.937_939delTCG; p.S313del; 11:32374485-32374487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1012T>C; p.S338P; 11:32374412-32374412 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.593delC; p.P198fs*20; 11:32406153-32406153 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.901_901C>GG; p.R301fs*16; 11:32374523-32374523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.398_399insT; p.L134fs*46; 11:32412865-32412866 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.907_908insAT; p.V303fs*5; 11:32374516-32374517 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.901_902insG; p.R302fs*15; 11:32374522-32374523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.935G>A; p.R312Q; 11:32374489-32374489 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1173_1174insA; p.F392fs*17; 11:32370148-32370149 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.901_902insG; p.R302fs*15; 11:32374522-32374523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.442_442+2GGT>TTG; p.?; 11:32412820-32412822 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1072_1073insC; p.K358fs*4; 11:32370850-32370851 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.934_934C>GG; p.R312fs*5; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.937_938insACGGT; p.S313fs*70; 11:32374486-32374487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1168C>T; p.R390*; 11:32370154-32370154 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938C>A; p.S313*; 11:32374486-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1006A>G; p.K336E; 11:32374418-32374418 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.895-55_895-2del54insCA; p.?; 11:32374531-32374584 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.898_929del32; p.V300fs*6; 11:32374495-32374526 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.900_901insG; p.R301fs*16; 11:32374523-32374524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.925_928delACTC; p.T309fs*71; 11:32374496-32374499 |
kidney | Wilms_tumour; unilateral |
c.925_928delACTC; p.T309fs*71; 11:32374496-32374499 |
kidney | Wilms_tumour; unilateral |
c.934_934C>GG; p.R312fs*5; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.926_945del20; p.T309fs*4; 11:32374479-32374498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.901_902insG; p.R302fs*15; 11:32374522-32374523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.923_924insCC; p.T309fs*73; 11:32374500-32374501 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.900_901insG; p.R301fs*16; 11:32374523-32374524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.937_938insTGTACGGT; p.S313fs*71; 11:32374486-32374487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.935_936insCTTGTACG; p.S313fs*71; 11:32374488-32374489 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.929_930insNNNNNNN; p.?fs; 11:32374494-32374495 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_946delGCATCTG; p.A314fs*65; 11:32374478-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.931_932ins10; p.V311fs*9; 11:32374492-32374493 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.936_937ins32; p.S313fs*5; 11:32374487-32374488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.900_905GCGACG>20; p.R301fs*11; 11:32374519-32374524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.903_925>15; p.R302fs*12; 11:32374499-32374521 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insCGGTC; p.A314fs*69; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.904_905insC; p.R302fs*15; 11:32374519-32374520 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.937_938insCGGT; p.A314fs*4; 11:32374486-32374487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insCGGTC; p.A314fs*69; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.926_936>AGT; p.T309fs*5; 11:32374488-32374498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.906_907insT; p.V303fs*14; 11:32374517-32374518 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.892C>T; p.Q298*; 11:32378072-32378072 |
kidney | Wilms_tumour |
c.900_904GCGAC>ACCAGGGGG; p.R301fs*17; 11:32374520-32374524 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.901_901C>TCA; p.R301fs*7; 11:32374523-32374523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.901_934>12; p.R301fs*73; 11:32374490-32374523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_905G>CC; p.R302fs*15; 11:32374519-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_905G>CT; p.R302fs*15; 11:32374519-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_906insC; p.V303fs*14; 11:32374518-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.906_907insT; p.V303fs*14; 11:32374517-32374518 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_906insGACT; p.V303fs*15; 11:32374518-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.923_925CGA>TGAG; p.P308fs*9; 11:32374499-32374501 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.923_924insCC; p.T309fs*73; 11:32374500-32374501 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.924_926GAC>AGTTTTT; p.T309fs*9; 11:32374498-32374500 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.928_937CTTGTACGGT>GAAACGTC; p.L310fs*6; 11:32374487-32374496 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.933_934insTGGTTTG; p.R312fs*7; 11:32374490-32374491 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.934_935insTGCC; p.R312fs*6; 11:32374489-32374490 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.925_926insGGTGGCCA; p.T309fs*75; 11:32374498-32374499 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.934_934C>AG; p.S313fs*4; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.934_935ins15; p.S313*; 11:32374489-32374490 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1163G>A; p.C388Y; 11:32370159-32370159 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.933_934ins10; p.S313fs*7; 11:32374490-32374491 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; precursor_T_cell_lymphoblastic_lymphoma |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.937_938insACGGT; p.S313fs*70; 11:32374486-32374487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insA; p.A314fs*3; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.933delA; p.R312fs*69; 11:32374491-32374491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.933delA; p.R312fs*69; 11:32374491-32374491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.936_937insAACGG; p.S313fs*70; 11:32374487-32374488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.936_937insAACGG; p.S313fs*70; 11:32374487-32374488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.934_935insA; p.R312fs*5; 11:32374489-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1020_1021ins10; p.Q341fs*13; 11:32374403-32374404 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938C>A; p.S313*; 11:32374486-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1190_1200del11; p.H397fs*8; 11:32370122-32370132 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1174_1175insAAGT; p.F392fs*1; 11:32370147-32370148 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.926_927insAAGAGAC; p.L310fs*9; 11:32374497-32374498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.926_927insAAGAGAC; p.L310fs*9; 11:32374497-32374498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1136G>T; p.G379V; 11:32370186-32370186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1136G>T; p.G379V; 11:32370186-32370186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.931_932insACTCTTG; p.V311fs*8; 11:32374492-32374493 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.992_993insA; p.N331fs*2; 11:32374431-32374432 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.934_935insA; p.R312fs*5; 11:32374489-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.934_935insA; p.R312fs*5; 11:32374489-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.901_905CGACG>15; p.R301fs*19; 11:32374519-32374523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.932_939delTACGGTCG; p.V311fs*3; 11:32374485-32374492 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.932_939delTACGGTCG; p.V311fs*3; 11:32374485-32374492 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.936_937insG; p.S313fs*4; 11:32374487-32374488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.902_906GACGT>AAGA; p.R301fs*6; 11:32374518-32374522 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.998G>A; p.R333K; 11:32374426-32374426 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.932_933delTA; p.V311fs*5; 11:32374491-32374492 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.932_933delTA; p.V311fs*5; 11:32374491-32374492 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.L310fs*10; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.923_924insC; p.T309fs*8; 11:32374500-32374501 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.923_924insC; p.T309fs*8; 11:32374500-32374501 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939ins13; p.A314fs*7; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939ins13; p.A314fs*7; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.V311fs*4; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.934_934C>GG; p.R312fs*5; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.928_931delCTTG; p.L310fs*70; 11:32374493-32374496 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.928_931delCTTG; p.L310fs*70; 11:32374493-32374496 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.926_927insAAGAC; p.L310fs*73; 11:32374497-32374498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.926_927insAAGAC; p.L310fs*73; 11:32374497-32374498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938C>A; p.S313*; 11:32374486-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.902_903GA>CGG; p.R301fs*16; 11:32374521-32374522 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.902_903GA>CGG; p.R301fs*16; 11:32374521-32374522 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1000_1001insGAGAT; p.Y334fs*1; 11:32374423-32374424 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938C>A; p.S313*; 11:32374486-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.993_993delT; p.N331fs*50; 11:32374431-32374431 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.993_993delT; p.N331fs*50; 11:32374431-32374431 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S313fs*72; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.V311fs*8; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.V311fs*8; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R403T; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.937_938insTCGGT; p.S313fs*70; 11:32374486-32374487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.905G>A; p.R302H; 11:32374519-32374519 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.905_906insTTGAAAT; p.V303fs*1; 11:32374518-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_905G>TGACGATAC; p.R302fs*8; 11:32374519-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.938_939insCGGTC; p.A314fs*69; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.901_902CG>ACGG; p.R301fs*7; 11:32374522-32374523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.937_940TCGG>19; p.S313fs*2; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.895-5_909del15; p.?; 11:32374515-32374534 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.912_916TGGAG>CGG; p.V306fs*10; 11:32374508-32374512 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_905G>CCC; p.R302fs*6; 11:32374519-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.934_934C>AA; p.R312fs*5; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.933_934insG; p.R312fs*5; 11:32374490-32374491 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.919_920insCC; p.T309fs*73; 11:32374504-32374505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.934_934C>TA; p.R312fs*1; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_906insTTGAAAT; p.V303fs*1; 11:32374518-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_905G>TGACGATAC; p.R302fs*8; 11:32374519-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_906ins28; p.V303fs*23; 11:32374518-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_905G>CCCCC; p.R302fs*16; 11:32374519-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.933_934insA; p.R312fs*5; 11:32374490-32374491 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.933_934insA; p.R312fs*5; 11:32374490-32374491 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_906insGTAACCCG; p.V303fs*1; 11:32374518-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.933_934insCGGAGGGA; p.S313fs*71; 11:32374490-32374491 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.934_934C>AA; p.R312fs*5; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.901_901C>GG; p.R301fs*16; 11:32374523-32374523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.937_938ins25; p.S313fs*12; 11:32374486-32374487 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1181G>C; p.R394P; 11:32370141-32370141 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1022_1023insGCGGGCC; p.M342fs*11; 11:32374401-32374402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1181G>C; p.R394P; 11:32370141-32370141 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.934_934C>GGG; p.R312fs*70; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.?_?del?; p.0?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.1180C>T; p.R394W; 11:32370142-32370142 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?_?del?; p.0?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.747_797del51; p.?; 11:32394612-32394662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia |
c.901C>T; p.R301*; 11:32374523-32374523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.902_903ins17; p.R302fs*11; 11:32374521-32374522 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.931_932insACTCTTG; p.V311fs*8; 11:32374492-32374493 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.935G>A; p.R312Q; 11:32374489-32374489 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.934_934C>GG; p.R312fs*5; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.936_937insTGTACGG; p.S313fs*6; 11:32374487-32374488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insCGGTC; p.A314fs*69; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.935_936ins10; p.A314fs*6; 11:32374488-32374489 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.962_963insAGGG; p.P322fs*12; 11:32374461-32374462 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1181G>A; p.R394Q; 11:32370141-32370141 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1186G>A; p.D396N; 11:32370136-32370136 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1186G>A; p.D396N; 11:32370136-32370136 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1186G>A; p.D396N; 11:32370136-32370136 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1181G>C; p.R394P; 11:32370141-32370141 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.901_902insAG; p.R301fs*7; 11:32374522-32374523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.906_907insT; p.V303fs*14; 11:32374517-32374518 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.924_925insGTGGTGGG; p.T309fs*75; 11:32374499-32374500 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.932_933insGATCCTT; p.R312fs*7; 11:32374491-32374492 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1186G>A; p.D396N; 11:32370136-32370136 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.906_907insT; p.V303fs*14; 11:32374517-32374518 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1168C>T; p.R390*; 11:32370154-32370154 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1187A>G; p.D396G; 11:32370135-32370135 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939ins10; p.A314fs*6; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1181G>C; p.R394P; 11:32370141-32370141 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.928_929delCT; p.L310fs*6; 11:32374495-32374496 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.934_934C>GG; p.R312fs*5; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938C>A; p.S313*; 11:32374486-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941ins11; p.A314fs*71; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.937_938insACGGT; p.S313fs*70; 11:32374486-32374487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.895-23_896del25; p.?; 11:32374528-32374552 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1180C>G; p.R394G; 11:32370142-32370142 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1186G>A; p.D396N; 11:32370136-32370136 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R394W; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.901C>T; p.R301*; 11:32374523-32374523 |
kidney | Wilms_tumour |
c.?; p.W78fs*129; |
kidney | Wilms_tumour |
c.1180C>T; p.R394W; 11:32370142-32370142 |
kidney | Wilms_tumour; unilateral |
c.506_507ins16; p.Q170fs*15; 11:32406677-32406678 |
kidney | Wilms_tumour; unilateral |
c.1297_1298insTTAGTCC; p.R433fs*21; 11:32367232-32367233 |
kidney | Wilms_tumour; unilateral |
c.443_565del123; p.?; 11:32406619-32406741 |
kidney | Wilms_tumour; unilateral |
c.1_797del797; p.?; |
kidney | Wilms_tumour; unilateral |
c.1_1228del1228; p.?; |
kidney | Wilms_tumour; unilateral |
c.743_744insAA; p.G249fs*11; 11:32395701-32395702 |
kidney | Wilms_tumour; unilateral |
c.1324_1325delAT; p.M442fs*9; 11:32367205-32367206 |
kidney | Wilms_tumour; unilateral |
c.542_543insATCC; p.M182fs*10; 11:32406641-32406642 |
kidney | Wilms_tumour; unilateral |
c.897_904delTGTGCGAC; p.D299fs*15; 11:32374520-32374527 |
kidney | Wilms_tumour; unilateral |
c.798_1350del553; p.?; |
kidney | Wilms_tumour; unilateral |
c.895-2_904del12; p.?; 11:32374520-32374531 |
kidney | Wilms_tumour; unilateral |
c.491C>T; p.P164L; |
skin; ear | malignant_melanoma |
c.480C>A; p.Y160*; 11:32406704-32406704 |
kidney | Wilms_tumour |
c.668G>C; p.S223T; 11:32406078-32406078 |
lung | carcinoma; adenocarcinoma |
c.63_63delC; p.G22fs*7; 11:32413005-32413005 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1150C>A; p.Q384K; 11:32370172-32370172 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.895_1045del151; p.D299fs*32; 11:32374379-32374529 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1046_1228del183; p.E350_S410del; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1136_1228del93; p.V380_S410del; 11:32370094-32370186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1096C>T; p.R366C; 11:32370827-32370827 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.933_934ins13; p.R312fs*9; 11:32374490-32374491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.895_1045del151; p.D299fs*32; 11:32374379-32374529 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1136_1228del93; p.V380_S410del; 11:32370094-32370186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.686_686delT; p.M229fs*8; 11:32395759-32395759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.126_126delC; p.P43fs*47; 11:32412942-32412942 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.976G>A; p.A326T; 11:32374448-32374448 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1158A>T; p.K386N; 11:32370164-32370164 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.900_903delGCGA; p.R301fs*5; 11:32374521-32374524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.992A>G; p.N331S; 11:32374432-32374432 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1136_1228del93; p.V380_S410del; 11:32370094-32370186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1021C>T; p.Q341*; 11:32374403-32374403 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1050_1127>78; p.Y353_R376>24; 11:32370796-32370873 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.895_1045del151; p.D299fs*32; 11:32374379-32374529 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1136_1228del93; p.V380_S410del; 11:32370094-32370186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1138_1232del95; p.V380fs*19; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1139_1217>79; p.V380_T406>27; 11:32370105-32370183 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.895_1045del151; p.D299fs*32; 11:32374379-32374529 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.998_999delGA; p.R333fs*3; 11:32374425-32374426 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1136_1228del93; p.V380_S410del; 11:32370094-32370186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insC; p.A314fs*3; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.923_923C>GAT; p.P308fs*2; 11:32374501-32374501 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage |
c.934_934C>AA; p.R312fs*5; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage |
c.933_934insG; p.R312fs*5; 11:32374490-32374491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage |
c.934_934C>GA; p.R312fs*5; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage |
c.332C>A; p.P111H; 11:32412736-32412736 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.904_905insT; p.R302fs*15; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1125G>A; p.R375R; |
NS | malignant_melanoma |
c.1125G>A; p.R375R; |
NS | malignant_melanoma |
c.785A>C; p.E262A; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1136-1G>A; p.?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1246T>G; p.C416G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.833C>T; p.T278M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1249C>T; p.R417W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.938_939insCGGTC; p.A314fs*69; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insCGGTC; p.A314fs*69; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?_?del?; p.0?; |
kidney | Wilms_tumour |
c.120_121insT; p.A41fs*90; 11:32413143-32413144 |
kidney | Wilms_tumour |
c.137C>A; p.S46*; 11:32413127-32413127 |
kidney | Wilms_tumour |
c.1214_1215insA; p.H405fs*4; 11:32370107-32370108 |
kidney | Wilms_tumour |
c.440delA; p.Q147fs*71; 11:32412824-32412824 |
kidney | Wilms_tumour |
c.1168C>T; p.R390*; 11:32370154-32370154 |
kidney | Wilms_tumour |
c.1214_1215insA; p.H405fs*4; 11:32370107-32370108 |
kidney | Wilms_tumour |
c.1180C>T; p.R394W; 11:32370142-32370142 |
kidney | Wilms_tumour |
c.1093delT; p.S365fs*16; 11:32370830-32370830 |
kidney | Wilms_tumour |
c.711delC; p.W238fs*4; 11:32395734-32395734 |
kidney | Wilms_tumour |
c.434G>T; p.R145L; |
pancreas | carcinoma; acinar_carcinoma |
c.581_582insTACATCC; p.V195fs*32; 11:32406164-32406165 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.92C>T; p.A31V; 11:32413172-32413172 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.144C>G; p.Y48*; 11:32413120-32413120 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.885A>T; p.R295S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.979T>C; p.Y327H; 11:32374445-32374445 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.790C>G; p.Q264E; |
prostate | carcinoma; adenocarcinoma |
c.1138G>A; p.V380M; |
oesophagus | carcinoma; adenocarcinoma |
c.313G>A; p.G105R; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.?; p.D299fs*20; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S313*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S313fs*4; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.362C>A; p.S121*; 11:32412902-32412902 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1136-1G>A; p.?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insCGGTC; p.A314fs*69; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insCGGTC; p.A314fs*69; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.905_906insGGGCCGG; p.V303fs*16; 11:32374518-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.934_935insAG; p.R312fs*70; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.905delG; p.R302fs*5; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.936_937insG; p.S313fs*4; 11:32374487-32374488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1095_1096insGGTTTTCT; p.R366fs*18; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.933_934insA; p.R312fs*5; 11:32374490-32374491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.906_907insTT; p.V303fs*5; 11:32374517-32374518 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.902_903insG; p.R302fs*15; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1172_1177delAGTTCT; p.K391_S393>T; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1181G>A; p.R394Q; 11:32370141-32370141 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.895-2A>C; p.?; 11:32374531-32374531 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1191C>A; p.H397Q; 11:32370131-32370131 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1225A>C; p.T409P; |
lung | carcinoma; adenocarcinoma |
c.845G>A; p.C282Y; |
lung | carcinoma; adenocarcinoma |
c.484C>T; p.H162Y; |
lung | carcinoma; adenocarcinoma |
c.155G>A; p.G52D; |
lung | carcinoma; adenocarcinoma |
c.892C>T; p.Q298*; 11:32378072-32378072 |
lung | carcinoma; adenocarcinoma |
c.1279C>T; p.R427W; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1280G>C; p.R427P; |
autonomic_ganglia | neuroblastoma |
c.434_435insTATTCGC; p.N146fs*36; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.435_436insTATTCGC; p.N146fs*36; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.830C>T; p.T277I; |
pancreas | carcinoma; ductal_carcinoma |
c.830C>T; p.T277I; |
NS | NS |
c.1168C>T; p.R390*; 11:32370154-32370154 |
kidney | Wilms_tumour |
c.995A>T; p.K332M; |
liver | carcinoma |
c.548_549insG; p.Q184fs*7; 11:32406635-32406636 |
kidney | Wilms_tumour |
c.1297_1298insC; p.R433fs*19; 11:32367232-32367233 |
kidney | Wilms_tumour; bilateral |
c.1297_1298insC; p.R433fs*19; 11:32367232-32367233 |
kidney | Wilms_tumour; bilateral |
c.868_869insA; p.T290fs*27; 11:32378095-32378096 |
kidney | Wilms_tumour; bilateral |
c.362C>A; p.S121*; 11:32412902-32412902 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.362C>A; p.S121*; 11:32412902-32412902 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.485A>T; p.H162L; |
lung | carcinoma; small_cell_carcinoma |
c.933_934insCCTTG; p.R312fs*71; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.931_932insGAGTCGTG; p.V311fs*73; 11:32374492-32374493 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.904_906CGT>AGCTGGATTT; p.R302fs*17; 11:32374518-32374520 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.906_907insT; p.V303fs*14; 11:32374517-32374518 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_906GT>CCGACCC; p.R302fs*7; 11:32374518-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.901delC; p.R301fs*6; 11:32374523-32374523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.901_901C>GG; p.R301fs*16; 11:32374523-32374523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.934_934C>TGA; p.R312*; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1181G>A; p.R394Q; 11:32370141-32370141 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.904_907CGTG>12; p.V303fs*7; 11:32374517-32374520 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.934_937CGGT>GGGGC; p.R312fs*5; 11:32374487-32374490 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.904delC; p.R302fs*5; 11:32374520-32374520 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.895-4_900GCAGGATGTG>C; p.?; 11:32374524-32374533 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.924_925ins13; p.T309fs*12; 11:32374499-32374500 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_905G>CCC; p.R302fs*6; 11:32374519-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.934_934C>GA; p.R312fs*5; 11:32374490-32374490 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.924_927delGACT; p.T309fs*71; 11:32374497-32374500 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1021C>T; p.Q341*; 11:32374403-32374403 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1181G>C; p.R394P; 11:32370141-32370141 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.900_901insGG; p.R301fs*7; 11:32374523-32374524 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.923_924ins13; p.T309fs*12; 11:32374500-32374501 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.206_209delACTC; p.H69fs*20; 11:32413055-32413058 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.938C>A; p.S313*; 11:32374486-32374486 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.925_926insTGGGA; p.T309fs*74; 11:32374498-32374499 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1097_1098ins10; p.S367fs*23; 11:32370825-32370826 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.557_562GCTCGC>CCCCTACCCGA; p.G186fs*34; 11:32406622-32406627 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.416_417AG>GGACTCGTC; p.E139fs*43; 11:32412847-32412848 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.442+1G>T; p.?; 11:32412821-32412821 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.937_943TCGGCAT>12; p.S313fs*70; 11:32374481-32374487 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_908GTGT>TC; p.R302fs*14; 11:32374516-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.371_371A>TCTCGTTA; p.Q124fs*9; 11:32412893-32412893 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.898_900GTG>AACTTAC; p.V300fs*18; 11:32374524-32374526 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.924_925ins13; p.T309fs*12; 11:32374499-32374500 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.905_908GTGT>CCATGTGG; p.R302fs*16; 11:32374516-32374519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.923_952>TGAGAGGGCCG; p.P308fs*67; 11:32374472-32374501 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.906_907insTT; p.V303fs*5; 11:32374517-32374518 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.253G>A; p.E85K; |
lung | carcinoma; adenocarcinoma |
c.354C>G; p.S118R; |
lung | carcinoma; squamous_cell_carcinoma |
c.513C>T; p.F171F; |
lung | carcinoma; squamous_cell_carcinoma |
c.693C>A; p.S231S; |
lung | carcinoma; squamous_cell_carcinoma |
c.511T>C; p.F171L; |
lung | carcinoma; squamous_cell_carcinoma |
c.924G>T; p.P308P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1145C>A; p.P382Q; |
lung | carcinoma; adenocarcinoma |
c.1136G>T; p.G379V; 11:32370186-32370186 |
lung | carcinoma; adenocarcinoma |
c.1178C>A; p.S393Y; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.856T>G; p.Y286D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1075G>T; p.D359Y; |
lung | carcinoma; adenocarcinoma |
c.1181G>T; p.R394L; |
lung | carcinoma; adenocarcinoma |
c.743A>C; p.K248T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1226C>A; p.T409K; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.1213C>T; p.H405Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1228+1G>A; p.?; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.306C>G; p.G102G; |
lung | carcinoma; adenocarcinoma |
c.856T>A; p.Y286N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1181G>A; p.R394Q; 11:32370141-32370141 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1118A>G; p.H373R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1155T>C; p.C385C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.712T>C; p.W238R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.869C>T; p.T290M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.844T>C; p.C282R; 11:32378120-32378120 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1344G>A; p.A448A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1172A>C; p.K391T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1271A>G; p.K424R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.819C>T; p.S273S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.938C>A; p.S313*; 11:32374486-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.939_940insTCGG; p.A314fs*4; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.940_941insTCGG; p.A314fs*4; 11:32374483-32374484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.937_938insTGTACGGT; p.S313fs*71; 11:32374486-32374487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1180C>T; p.R394W; 11:32370142-32370142 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.309delA; p.A104fs*114; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.925_926ins10; p.T309fs*11; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1045+1G>C; p.?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1189C>T; p.H397Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.902_903insG; p.R302fs*15; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.906_907insT; p.V303fs*14; 11:32374517-32374518 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1136-1G>A; p.?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insCGGTC; p.A314fs*69; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1001_1002delAT; p.Y334fs*2; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.938_939insCGGTC; p.A314fs*69; 11:32374485-32374486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1046-1G>A; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.507G>A; p.A169A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.813C>T; p.Y271Y; |
large_intestine | NS |
c.844T>C; p.C282R; 11:32378120-32378120 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.818G>A; p.S273N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.452C>T; p.T151M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.489G>A; p.T163T; |
breast | carcinoma |
c.817A>G; p.S273G; 11:32378147-32378147 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1111A>G; p.K371E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.818G>T; p.S273I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.320G>T; p.C107F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.903A>G; p.R301R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.870G>A; p.T290T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1298G>A; p.R433H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1097G>A; p.R366H; |
breast | carcinoma |
c.949A>T; p.T317S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.934C>T; p.R312W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1297C>T; p.R433C; |
breast | carcinoma |
c.714G>T; p.W238C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1170A>G; p.R390R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.817A>G; p.S273G; 11:32378147-32378147 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1153T>C; p.C385R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.844T>C; p.C282R; 11:32378120-32378120 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1154G>A; p.C385Y; 11:32370168-32370168 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.319T>C; p.C107R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.797A>G; p.N266S; 11:32394612-32394612 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1186G>A; p.D396N; 11:32370136-32370136 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.998G>A; p.R333K; 11:32374426-32374426 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1118A>G; p.H373R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1154G>A; p.C385Y; 11:32370168-32370168 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1097G>A; p.R366H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1111A>G; p.K371E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1181G>T; p.R394L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.667A>G; p.S223G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1086A>G; p.R362R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.893A>G; p.Q298R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.363A>G; p.S121S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1180C>A; p.R394R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1182G>A; p.R394R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.979T>C; p.Y327H; 11:32374445-32374445 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1170A>G; p.R390R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1344G>A; p.A448A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1155T>C; p.C385C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1180C>T; p.R394W; 11:32370142-32370142 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1191C>T; p.H397H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1098T>C; p.R366R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.846C>T; p.C282C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1170A>G; p.R390R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.459C>A; p.T153T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.903_905ACG>GC; p.R302fs*5; 11:32374519-32374521 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.?; p.Q298*; |
kidney | Wilms_tumour |
c.1297_1298delCG; p.R433fs*18; 11:32367232-32367233 |
kidney | Wilms_tumour |
c.1011_1012ins19; p.S338fs*1; 11:32374412-32374413 |
kidney | Wilms_tumour |
c.168delG; p.P57fs*33; 11:32413096-32413096 |
kidney | Wilms_tumour |
c.566-1G>T; p.?; 11:32406181-32406181 |
kidney | Wilms_tumour |
c.1293_1294insA; p.V432fs*20; 11:32367236-32367237 |
kidney | Wilms_tumour; unilateral |
c.1311_1312insC; p.H438fs*14; 11:32367218-32367219 |
kidney | Wilms_tumour; unilateral |
c.1298_1299delGC; p.R433fs*18; 11:32367231-32367232 |
kidney | Wilms_tumour; unilateral |
c.710C>T; p.T237I; |
skin | malignant_melanoma |
c.1169G>A; p.R390Q; |
skin | malignant_melanoma |
c.1096C>T; p.R366C; 11:32370827-32370827 |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.903_904insG; p.R302fs*15; 11:32374520-32374521 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.901_902insTGTGC; p.R301fs*8; 11:32374522-32374523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1181G>A; p.R394Q; 11:32370141-32370141 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1214A>T; p.H405L; 11:32370108-32370108 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1046_1056del11; p.?; 11:32370867-32370879 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |