General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 1050 |
Name | CEBPA |
Synonymous | CCAAT/enhancer binding protein (C/EBP), alpha;CEBPA;CCAAT/enhancer binding protein (C/EBP), alpha |
Definition | CCAAT/enhancer-binding protein alpha |
Position | 19q13.1 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.88. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.107delG; p.G36fs*124; 19:33302308-33302308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.930_931insTCT; p.T310_Q311insS; 19:33301484-33301485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.930_931insTCT; p.T310_Q311insS; 19:33301484-33301485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.107delG; p.G36fs*124; 19:33302308-33302308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.107delG; p.G36fs*124; 19:33302308-33302308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.198_199insC; p.Y67fs*41; 19:33302216-33302217 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.107delG; p.G36fs*124; 19:33302308-33302308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.332_340del9; p.A111_G114>G; 19:33302075-33302083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.332_340del9; p.A111_G114>G; 19:33302075-33302083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.932_933ins15; p.Q311>QQRGDA; 19:33301482-33301483 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.928_929insCGA; p.T310_Q311insT; 19:33301486-33301487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.902_907delACAAGG; p.D301_A303>A; 19:33301508-33301513 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.932A>G; p.Q311R; 19:33301483-33301483 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.277delG; p.A93fs*67; 19:33302138-33302138 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.922_923ins24; p.V308>ARQGQAAQL; 19:33301492-33301493 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.183delC; p.I62fs*98; 19:33302232-33302232 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.275_276insA; p.A93fs*15; 19:33302139-33302140 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.275_276insA; p.A93fs*15; 19:33302139-33302140 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.275_276insA; p.A93fs*15; 19:33302139-33302140 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.275_276insA; p.A93fs*15; 19:33302139-33302140 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.184_185insA; p.I62fs*46; 19:33302230-33302231 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.183delC; p.I62fs*98; 19:33302232-33302232 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.927_928insACA; p.T310_Q311insT; 19:33301487-33301488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.264_270GGAGAAG>CA; p.Q88fs*18; 19:33302145-33302151 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.184_185insA; p.I62fs*46; 19:33302230-33302231 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.175_182delGAGACGTC; p.E59fs*46; 19:33302233-33302240 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.209_210insC; p.A71fs*37; 19:33302205-33302206 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.178_179insCGAGA; p.S61fs*101; 19:33302236-33302237 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1004T>G; p.L335R; 19:33301411-33301411 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.209_210insC; p.A71fs*37; 19:33302205-33302206 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.678G>A; p.T226T; 19:33301737-33301737 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.242_248delTGTTCCA; p.L81fs*77; 19:33302167-33302173 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.316_317ins19; p.F106fs*8; 19:33302098-33302099 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.209_210insC; p.A71fs*37; 19:33302205-33302206 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.329_336delGCGCGCCC; p.A111fs*56; 19:33302079-33302086 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.316_317ins19; p.F106fs*8; 19:33302098-33302099 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.914A>G; p.Q305R; 19:33301501-33301501 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.232delC; p.L78fs*82; 19:33302183-33302183 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.840G>C; p.K280N; 19:33301575-33301575 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.219_231del13; p.N74fs*82; 19:33302184-33302196 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.232delC; p.L78fs*82; 19:33302183-33302183 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.958_958G>37; p.D320>13; 19:33301457-33301457 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.929_930insTCT; p.T310_Q311insL; 19:33301485-33301486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - In frame |
c.942G>A; p.V314V; 19:33301473-33301473 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.50_53delGCCA; p.S17fs*142; 19:33302362-33302365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68_69insCCCG; p.H24fs*85; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.135_138delACCT; p.A47fs*112; 19:33302277-33302280 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.936_937insCAA; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.179delC; p.T60fs*100; 19:33302236-33302236 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.148G>T; p.E50*; 19:33302267-33302267 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.176_180delAGACG; p.E59fs*47; 19:33302235-33302239 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.179delC; p.T60fs*100; 19:33302236-33302236 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.213_214insNNNNN; p.A72fs*90; 19:33302201-33302202 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.131_132insCCCC; p.A47fs*62; 19:33302283-33302284 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.64_68delCCCCC; p.P22fs*84; 19:33302347-33302351 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.131_132insCCCC; p.A47fs*62; 19:33302283-33302284 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1018G>A; p.G340S; 19:33301397-33301397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.595_596GC>TT; p.A199L; 19:33301819-33301820 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.944_945insGCT; p.L315_E316insL; 19:33301470-33301471 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1018G>A; p.G340S; 19:33301397-33301397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.898C>T; p.R300C; 19:33301517-33301517 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.898C>T; p.R300C; 19:33301517-33301517 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.595_596GC>TT; p.A199L; 19:33301819-33301820 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1018G>A; p.G340S; 19:33301397-33301397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.944_945insGCT; p.L315_E316insL; 19:33301470-33301471 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.372_373ins37; p.H125fs*57; 19:33302042-33302043 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.139delG; p.A47fs*113; 19:33302276-33302276 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.139delG; p.A47fs*113; 19:33302276-33302276 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.332_339CGCCCGCG>GGCCCG; p.A111fs*58; 19:33302076-33302083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.332_339CGCCCGCG>GGCCCG; p.A111fs*58; 19:33302076-33302083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.865C>T; p.R289C; 19:33301550-33301550 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.332_339CGCCCGCG>GGCCCG; p.A111fs*58; 19:33302076-33302083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.924_925insCCC; p.V308_E309insP; 19:33301490-33301491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.59_60insA; p.S21fs*87; 19:33302355-33302356 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.213C>A; p.A71A; 19:33302202-33302202 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.180_181insCG; p.S61fs*100; 19:33302234-33302235 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.313_317GACTT>ACTGACT; p.D105fs*56; 19:33302098-33302102 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.921_926delCGTGGA; p.R306_N307del; 19:33301489-33301494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Deletion - In frame |
c.921_926delCGTGGA; p.R306_N307del; 19:33301489-33301494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.921_926delCGTGGA; p.R306_N307del; 19:33301489-33301494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.921_926delCGTGGA; p.R306_N307del; 19:33301489-33301494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.921_926delCGTGGA; p.R306_N307del; 19:33301489-33301494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.18_389del372; p.Y7_G130del; 19:33302026-33302397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.169G>T; p.E57*; 19:33302246-33302246 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.204_205insC; p.D69fs*39; 19:33302210-33302211 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.901_902ins36; p.D301>13; 19:33301513-33301514 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.347G>A; p.G116D; 19:33302068-33302068 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.934_935insAGA; p.Q312_K313insK; 19:33301480-33301481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.90_99CTTCGGCTTT>G; p.A30_F33>A; 19:33302316-33302325 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.934_935insAGA; p.Q312_K313insK; 19:33301480-33301481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.787C>T; p.L263F; 19:33301628-33301628 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.(117_119)delN; p.A40fs*120; 19:33302298-33302298 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Deletion - Frameshift |
c.402G>A; p.A134A; 19:33302013-33302013 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.600_1055del456; p.H200_K352>Q; 19:33301360-33301815 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.402G>A; p.A134A; 19:33302013-33302013 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1017G>A; p.R339R; 19:33301398-33301398 |
liver | carcinoma | Substitution - coding silent |
c.1017G>A; p.R339R; 19:33301398-33301398 |
liver | carcinoma | Substitution - coding silent |
c.1038_1041delAGAG; p.P346fs*13; 19:33301374-33301377 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1017G>A; p.R339R; 19:33301398-33301398 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.402G>A; p.A134A; 19:33302013-33302013 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.75_76ins13; p.S27fs*85; 19:33302339-33302340 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.948_949insGAG; p.E316_L317insE; 19:33301466-33301467 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.208delC; p.P70fs*90; 19:33302207-33302207 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.265delG; p.E89fs*71; 19:33302150-33302150 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.856delC; p.R286fs*32; 19:33301559-33301559 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.248A>G; p.Q83R; 19:33302167-33302167 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.897_898insCG; p.D301fs*18; 19:33301517-33301518 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.947A>C; p.E316A; 19:33301468-33301468 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.527C>T; p.A176V; 19:33301888-33301888 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.265delG; p.E89fs*71; 19:33302150-33302150 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.527C>T; p.A176V; 19:33301888-33301888 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.945_946insCTG; p.L315_E316insL; 19:33301469-33301470 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.656_794del139; p.H219fs*53; 19:33301621-33301759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.690G>T; p.T230T; 19:33301725-33301725 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.945_946insCTG; p.L315_E316insL; 19:33301469-33301470 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.945_946insCTG; p.L315_E316insL; 19:33301469-33301470 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.67_68insCG; p.H24fs*137; 19:33302347-33302348 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.855C>A; p.Y285*; 19:33301560-33301560 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.855C>A; p.Y285*; 19:33301560-33301560 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Substitution - Nonsense |
c.199_200insT; p.Y67fs*41; 19:33302215-33302216 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.928_929insGA; p.T310fs*9; 19:33301486-33301487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.928_929insGA; p.T310fs*9; 19:33301486-33301487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.199_200insT; p.Y67fs*41; 19:33302215-33302216 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.555_593del39; p.P185_P197del; 19:33301822-33301860 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.161delG; p.G54fs*106; 19:33302254-33302254 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.586_587ins15; p.H195_P196>insHPHPH; 19:33301828-33301829 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.961_962ins33; p.D320_N321ins11; 19:33301453-33301454 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.251A>T; p.H84L; 19:33302164-33302164 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.711_717delCGCGCCC; p.A238fs*78; 19:33301698-33301704 |
stomach | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.543C>G; p.Y181*; 19:33301872-33301872 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.543C>G; p.Y181*; 19:33301872-33301872 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.373_374ins37; p.H125fs*57; 19:33302041-33302042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.90_91insGGCC; p.F31fs*78; 19:33302324-33302325 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.69_70insTCTCCCG; p.H24fs*86; 19:33302345-33302346 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.979_980ins66; p.K326_R327ins22; 19:33301435-33301436 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.979_980ins66; p.K326_R327ins22; 19:33301435-33301436 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.761_762insA; p.L256fs*65; 19:33301653-33301654 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.979_980ins66; p.K326_R327ins22; 19:33301435-33301436 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.117_118ins13; p.A40fs*72; 19:33302297-33302298 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.949_950insAGC; p.E316_L317insQ; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.949_950insAGC; p.E316_L317insQ; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.949_950insAGC; p.E316_L317insQ; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.117_118ins13; p.A40fs*72; 19:33302297-33302298 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.949_950insAGC; p.E316_L317insQ; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.949_950insAGC; p.E316_L317insQ; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.949_950insAGC; p.E316_L317insQ; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.338_339insC; p.G116fs*54; 19:33302076-33302077 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.849_850CG>GT; p.N283_E284>K*; 19:33301565-33301566 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - compound substitution |
c.872_895>ATTAGA; p.R291_S299>H*; 19:33301520-33301543 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.956_957insACT; p.S319>RL; 19:33301458-33301459 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.63delC; p.P23fs*137; 19:33302352-33302352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.63delC; p.P23fs*137; 19:33302352-33302352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.63delC; p.P23fs*137; 19:33302352-33302352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.63delC; p.P23fs*137; 19:33302352-33302352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.63delC; p.P23fs*137; 19:33302352-33302352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.63delC; p.P23fs*137; 19:33302352-33302352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.207_210delCCCG; p.D69fs*90; 19:33302205-33302208 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.521C>T; p.A174V; 19:33301894-33301894 |
thyroid | other; neoplasm | Substitution - Missense |
c.63delC; p.P23fs*137; 19:33302352-33302352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.63delC; p.P23fs*137; 19:33302352-33302352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.63delC; p.P23fs*137; 19:33302352-33302352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.63delC; p.P23fs*137; 19:33302352-33302352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.922_923ins24; p.V308>ADTAKQRNV; 19:33301492-33301493 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.248_249insTCCA; p.Q83fs*26; 19:33302166-33302167 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.248_249insTCCA; p.Q83fs*26; 19:33302166-33302167 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.922_923ins24; p.V308>ADTAKQRNV; 19:33301492-33301493 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_69insC; p.H24fs*84; 19:33302346-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.134_135insC; p.P46fs*62; 19:33302280-33302281 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.53_53delA; p.H18fs*142; 19:33302362-33302362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.949_950ins24; p.E316_L317insQTQQKVLE; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.588_589insCACCCG; p.P196_P197insHP; 19:33301826-33301827 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.317_318insAACC; p.F106fs*3; 19:33302097-33302098 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.930_931insGAGACG; p.T310_Q311insET; 19:33301484-33301485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.930_931insGAGACG; p.T310_Q311insET; 19:33301484-33301485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.305_313del9; p.G102_G104del; 19:33302102-33302110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.323_324insA; p.Y108fs*1; 19:33302091-33302092 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.928_929ins18; p.T310_?insKAAQRGA; 19:33301486-33301487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.260_411del152; p.Q87fs*32; 19:33302004-33302155 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.928_929ins18; p.T310_?insKAAQRGA; 19:33301486-33301487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.64delC; p.P23fs*137; 19:33302351-33302351 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.64delC; p.P23fs*137; 19:33302351-33302351 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.260_411del152; p.Q87fs*32; 19:33302004-33302155 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.287delG; p.G96fs*64; 19:33302128-33302128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.930_931insACG; p.T310_Q311insT; 19:33301484-33301485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.287delG; p.G96fs*64; 19:33302128-33302128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1027delC; p.R343fs*17; 19:33301388-33301388 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.199_209del11; p.Y67fs*37; 19:33302206-33302216 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.930_931insACG; p.T310_Q311insT; 19:33301484-33301485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.159C>A; p.G53G; 19:33302256-33302256 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1027delC; p.R343fs*17; 19:33301388-33301388 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.281_286delCCGTGG; p.A94_V95del; 19:33302129-33302134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.1027delC; p.R343fs*17; 19:33301388-33301388 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.933_934insCAGCAG; p.Q311_Q312insQQ; 19:33301481-33301482 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.200_201insNNNN; p.Y67fs*42; 19:33302214-33302215 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.243_244insCCAGG; p.F82fs*80; 19:33302171-33302172 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.243_244insCCAGG; p.F82fs*80; 19:33302171-33302172 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.930_931insAAGCAG; p.T310_Q311insKQ; 19:33301484-33301485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.392_393insA; p.Y131fs*1; 19:33302022-33302023 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.180_189del10; p.I62fs*95; 19:33302226-33302235 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.341_350del10; p.G114fs*43; 19:33302065-33302074 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.501_502insAG; p.D168fs*151; 19:33301913-33301914 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.180_189del10; p.I62fs*95; 19:33302226-33302235 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.454delG; p.A152fs*8; 19:33301961-33301961 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.934C>T; p.Q312*; 19:33301481-33301481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.934C>T; p.Q312*; 19:33301481-33301481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.934C>T; p.Q312*; 19:33301481-33301481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.206_209delACCC; p.D69fs*90; 19:33302206-33302209 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.934C>T; p.Q312*; 19:33301481-33301481 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.206_209delACCC; p.D69fs*90; 19:33302206-33302209 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.899_901GCG>AGA; p.R300_D301>QN; 19:33301514-33301516 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - compound substitution |
c.84_85insGCAGC; p.S28fs*134; 19:33302330-33302331 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.211_212insG; p.A71fs*37; 19:33302203-33302204 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.928_930delACG; p.T310del; 19:33301485-33301487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.939_940ins24; p.K313_V314insRNVETQQK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.175G>T; p.E59*; 19:33302240-33302240 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.939_940ins24; p.K313_V314insRNVETQQK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.213_214insCACCG; p.A72fs*90; 19:33302201-33302202 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.319_322delGACT; p.D107fs*52; 19:33302093-33302096 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.319_322delGACT; p.D107fs*52; 19:33302093-33302096 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.939_940ins24; p.K313_V314insRNVETQQK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.124delC; p.P42fs*118; 19:33302291-33302291 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.51_52insNN; p.H18fs*143; 19:33302363-33302364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.175G>T; p.E59*; 19:33302240-33302240 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.414_415insCG; p.L139fs*22; 19:33302000-33302001 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.333_343del11; p.P112fs*54; 19:33302072-33302082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.414_415insCG; p.L139fs*22; 19:33302000-33302001 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.931C>T; p.Q311*; 19:33301484-33301484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.333_343del11; p.P112fs*54; 19:33302072-33302082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.944_945insTGTGCT; p.L315_E316insCL; 19:33301470-33301471 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.944_945insTGTGCT; p.L315_E316insCL; 19:33301470-33301471 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.971T>G; p.L324R; 19:33301444-33301444 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Missense |
c.157_161GGCGG>C; p.G53fs*106; 19:33302254-33302258 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.931C>T; p.Q311*; 19:33301484-33301484 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.931C>T; p.Q311*; 19:33301484-33301484 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.891_892insATT; p.R297_K298insI; 19:33301523-33301524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.822C>T; p.A274A; 19:33301593-33301593 |
liver | carcinoma | Substitution - coding silent |
c.232_522del291; p.L78_A174del; 19:33301893-33302183 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Deletion - In frame |
c.181_214del34; p.S61fs*88; 19:33302201-33302234 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.956delG; p.S319fs*13; 19:33301459-33301459 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.153_166del14; p.L52fs*51; 19:33302249-33302262 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.822C>T; p.A274A; 19:33301593-33301593 |
liver | carcinoma | Substitution - coding silent |
c.283_284insG; p.V95fs*13; 19:33302131-33302132 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.60_60delG; p.S21fs*139; 19:33302355-33302355 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.611delC; p.P204fs*114; 19:33301804-33301804 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.926_930AGACG>TGCCAAGCA; p.E309fs*13; 19:33301485-33301489 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.611delC; p.P204fs*114; 19:33301804-33301804 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.414_415insTA; p.L139fs*22; 19:33302000-33302001 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.161_180del20; p.G54fs*47; 19:33302235-33302254 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.67_68insGC; p.P23fs*138; 19:33302347-33302348 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1004T>A; p.L335Q; 19:33301411-33301411 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1050_1051ins143; p.V351fs*15; 19:33301364-33301365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.523C>G; p.L175V; 19:33301892-33301892 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1004T>A; p.L335Q; 19:33301411-33301411 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.181_194del14; p.S61fs*42; 19:33302221-33302234 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.523C>G; p.L175V; 19:33301892-33301892 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.928_929insGGA; p.T310_Q311insR; 19:33301486-33301487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.262C>T; p.Q88*; 19:33302153-33302153 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.329_330insG; p.A111fs*59; 19:33302085-33302086 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.935_936insNNN; p.Q312_K313insQ; 19:33301479-33301480 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.940_941ins69; p.K313_V314ins23; 19:33301474-33301475 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.934_936delCAG; p.Q312del; 19:33301479-33301481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.934_936delCAG; p.Q312del; 19:33301479-33301481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.951_957delGACCAGT; p.S319fs*11; 19:33301458-33301464 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.223_224insGA; p.D75fs*86; 19:33302191-33302192 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.934_936delCAG; p.Q312del; 19:33301479-33301481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.562_564delCCG; p.P188del; 19:33301851-33301853 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.944_945ins33; p.L315_E316ins11; 19:33301470-33301471 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.115C>T; p.P39S; 19:33302300-33302300 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.878_879insGGACCC; p.N293>KDP; 19:33301536-33301537 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.231_231delC; p.L78fs*82; 19:33302184-33302184 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.935_937delAGA; p.K313del; 19:33301478-33301480 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.944_945ins33; p.L315_E316ins11; 19:33301470-33301471 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.117delC; p.A40fs*120; 19:33302298-33302298 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.562_564delCCG; p.P188del; 19:33301851-33301853 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.117delC; p.A40fs*120; 19:33302298-33302298 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.231_231delC; p.L78fs*82; 19:33302184-33302184 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.115C>T; p.P39S; 19:33302300-33302300 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.562_564delCCG; p.P188del; 19:33301851-33301853 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.117delC; p.A40fs*120; 19:33302298-33302298 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.562_564delCCG; p.P188del; 19:33301851-33301853 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.880_881insCA; p.I294fs*25; 19:33301534-33301535 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.231_231delC; p.L78fs*82; 19:33302184-33302184 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.918_919insCAGCGC; p.R306_N307insQR; 19:33301496-33301497 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.918_919insCAGCGC; p.R306_N307insQR; 19:33301496-33301497 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.916_917ins18; p.V308_E309insDKQRNV; 19:33301498-33301499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.137delC; p.P46fs*114; 19:33302278-33302278 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.178_179insC; p.S61fs*47; 19:33302236-33302237 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.281_282insGCCGC; p.V95fs*67; 19:33302133-33302134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.917G>C; p.R306P; 19:33301498-33301498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.917G>C; p.R306P; 19:33301498-33301498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.178_179insC; p.S61fs*47; 19:33302236-33302237 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.178_179insC; p.S61fs*47; 19:33302236-33302237 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.539C>A; p.P180H; 19:33301876-33301876 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.178_179insC; p.S61fs*47; 19:33302236-33302237 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.281_282insGCCGC; p.V95fs*67; 19:33302133-33302134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.539C>A; p.P180H; 19:33301876-33301876 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.920_921ins15; p.Q305_R306insKAKQR; 19:33301494-33301495 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.207delC; p.P70fs*90; 19:33302208-33302208 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.425_426delGG; p.R142fs*27; 19:33301989-33301990 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1038_1039ins125; p.?; 19:33301376-33301377 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.62_63insAG; p.S21fs*140; 19:33302352-33302353 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.207delC; p.P70fs*90; 19:33302208-33302208 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.88_89delGC; p.A30fs*77; 19:33302326-33302327 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.291_292insC; p.T98fs*10; 19:33302123-33302124 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.939_940insCAGAAG; p.K313_V314insQK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.62_63insAG; p.S21fs*140; 19:33302352-33302353 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.273_274insC; p.K92fs*16; 19:33302141-33302142 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.541_542insTT; p.Y181fs*138; 19:33301873-33301874 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.925_926ins27; p.V308_E309insGDKAKQRNV; 19:33301489-33301490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.515_516insCACG; p.Q172fs*150; 19:33301899-33301900 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.134delC; p.P45fs*115; 19:33302281-33302281 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.868G>T; p.E290*; 19:33301547-33301547 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.929_934delCGCAGC; p.T310_Q312>K; 19:33301481-33301486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.103_104insC; p.R35fs*73; 19:33302311-33302312 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.355delG; p.V119fs*41; 19:33302060-33302060 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.638_1077del440; p.?; 19:33301301-33301777 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.541delT; p.Y181fs*137; 19:33301874-33301874 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.756_757GC>T; p.L253fs*65; 19:33301658-33301659 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.901_903delGAC; p.D301del; 19:33301512-33301514 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.103_104insC; p.R35fs*73; 19:33302311-33302312 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.542_543insA; p.Y181fs*1; 19:33301872-33301873 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.958_969del12; p.D320_R323del; 19:33301446-33301457 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.907_915del9; p.A303_Q305del; 19:33301500-33301508 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.950_951insGTC; p.L317_T318insS; 19:33301464-33301465 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.972G>A; p.L324L; 19:33301443-33301443 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.936_937ins24; p.Q312_K313insQRNVETQQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.63C>A; p.S21R; 19:33302352-33302352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.63C>A; p.S21R; 19:33302352-33302352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.155_162delTGGGCGGC; p.L52fs*53; 19:33302253-33302260 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1016G>C; p.R339P; 19:33301399-33301399 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.155_162delTGGGCGGC; p.L52fs*53; 19:33302253-33302260 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.946_947ins39; p.E316>14; 19:33301468-33301469 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.332_342del11; p.P112fs*54; 19:33302073-33302083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.106_130del25; p.G36fs*116; 19:33302285-33302309 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.930_930G>CGCC; p.T310_Q311insA; 19:33301485-33301485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.137_138insTC; p.A47fs*114; 19:33302277-33302278 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.52_56delCACCT; p.H18fs*88; 19:33302359-33302363 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.147_154delGGAGCCGC; p.E50fs*55; 19:33302261-33302268 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.245_246insT; p.Q83fs*25; 19:33302169-33302170 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.947_948insCCA; p.E316>DQ; 19:33301467-33301468 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.534C>T; p.L178L; 19:33301881-33301881 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.534C>T; p.L178L; 19:33301881-33301881 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.964_965ins36; p.N321_D322ins13; 19:33301450-33301451 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.930_932delGCA; p.Q311del; 19:33301483-33301485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.977_978ins57; p.R325_K326ins19; 19:33301437-33301438 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.977_978ins57; p.R325_K326ins19; 19:33301437-33301438 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.513_514insA; p.Q172fs*149; 19:33301901-33301902 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.513_514insA; p.Q172fs*149; 19:33301901-33301902 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.942_943insGTG; p.V314_L315insV; 19:33301472-33301473 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.942_943insGTG; p.V314_L315insV; 19:33301472-33301473 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.924_925insTG; p.E309fs*10; 19:33301490-33301491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.274_275insN; p.K92fs*16; 19:33302140-33302141 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.942_943insGTG; p.V314_L315insV; 19:33301472-33301473 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.912_929del18; p.Q305_T310del; 19:33301486-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.322_323insT; p.Y108fs*62; 19:33302092-33302093 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.322_323insT; p.Y108fs*62; 19:33302092-33302093 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.948_948G>TAGA; p.E316>DR; 19:33301467-33301467 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.322_323insT; p.Y108fs*62; 19:33302092-33302093 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.178_179insT; p.T60fs*48; 19:33302236-33302237 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.178_179insT; p.T60fs*48; 19:33302236-33302237 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.951_952ins39; p.L317_T318ins13; 19:33301463-33301464 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.940G>A; p.V314M; 19:33301475-33301475 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.921_922ins48; p.N307_V308ins16; 19:33301493-33301494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.287_290delGCCC; p.G96fs*63; 19:33302125-33302128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.245_246insNN; p.F82fs*79; 19:33302169-33302170 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.951_952ins39; p.L317_T318ins13; 19:33301463-33301464 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.951_952ins39; p.L317_T318ins13; 19:33301463-33301464 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.921_922ins48; p.N307_V308ins16; 19:33301493-33301494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.940G>A; p.V314M; 19:33301475-33301475 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.111_121del11; p.G38fs*66; 19:33302294-33302304 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.111_121del11; p.G38fs*66; 19:33302294-33302304 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.284_285ins10; p.G96fs*15; 19:33302130-33302131 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.41C>G; p.P14R; 19:33302374-33302374 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.243_244insT; p.Q83fs*25; 19:33302171-33302172 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.335_338delCCGC; p.P112fs*47; 19:33302077-33302080 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.335_338delCCGC; p.P112fs*47; 19:33302077-33302080 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.590C>A; p.P197Q; 19:33301825-33301825 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.932_934AGC>CGCCAGG; p.Q311fs*11; 19:33301481-33301483 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.4G>T; p.E2*; 19:33302411-33302411 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.937_938insGA; p.K313fs*6; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.927_928insAAG; p.E309_T310insK; 19:33301487-33301488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.964_984del21; p.D322_V328del; 19:33301431-33301451 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.927_928insAAG; p.E309_T310insK; 19:33301487-33301488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.715C>G; p.P239A; 19:33301700-33301700 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.930_931insTGG; p.T310_Q311insW; 19:33301484-33301485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.934_935insTTC; p.Q311_Q312insL; 19:33301480-33301481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.692_713del22; p.P231fs*80; 19:33301702-33301723 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.692_713del22; p.P231fs*80; 19:33301702-33301723 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage | Deletion - Frameshift |
c.324_325insTGACTAC; p.P109fs*1; 19:33302090-33302091 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1005G>A; p.L335L; 19:33301410-33301410 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.324_325insTGACTAC; p.P109fs*1; 19:33302090-33302091 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.932_933insAGCA; p.Q312fs*10; 19:33301482-33301483 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1005G>A; p.L335L; 19:33301410-33301410 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.295_296insCCAA; p.G99fs*10; 19:33302119-33302120 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.288_312del25; p.P97fs*55; 19:33302103-33302127 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.201_202insCTAC; p.I68fs*41; 19:33302213-33302214 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.318_319insTT; p.D107fs*54; 19:33302096-33302097 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.201_202insCTAC; p.I68fs*41; 19:33302213-33302214 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.318_319insTT; p.D107fs*54; 19:33302096-33302097 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.201_202insCTAC; p.I68fs*41; 19:33302213-33302214 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.917_918ins18; p.R306>RALAPPR; 19:33301497-33301498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.318_319insTT; p.D107fs*54; 19:33302096-33302097 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.740_791del52; p.P247fs*54; 19:33301624-33301675 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.912_913insTTG; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.916_917insAGC; p.Q305_R306insQ; 19:33301498-33301499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.916_917insAGC; p.Q305_R306insQ; 19:33301498-33301499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.425G>C; p.R142T; 19:33301990-33301990 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.916_917insAGC; p.Q305_R306insQ; 19:33301498-33301499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.916_917insAGC; p.Q305_R306insQ; 19:33301498-33301499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.916_917insAGC; p.Q305_R306insQ; 19:33301498-33301499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.198_201delCTAC; p.Y67fs*92; 19:33302214-33302217 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.198_201delCTAC; p.Y67fs*92; 19:33302214-33302217 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.916_917insAGC; p.Q305_R306insQ; 19:33301498-33301499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.319delG; p.D107fs*53; 19:33302096-33302096 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.319delG; p.D107fs*53; 19:33302096-33302096 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1019G>A; p.G340D; 19:33301396-33301396 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.271_272insAAGG; p.A91fs*18; 19:33302143-33302144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.334_335ins17; p.P112fs*54; 19:33302080-33302081 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.95delG; p.G32fs*128; 19:33302320-33302320 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.334_346del13; p.P112fs*44; 19:33302069-33302081 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.907_908insTTG; p.K302_A303>insV; 19:33301507-33301508 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.48delC; p.S16fs*144; 19:33302367-33302367 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.201_202delCA; p.I68fs*39; 19:33302213-33302214 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.928_929insACA; p.E309_T310insN; 19:33301486-33301487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.201_202delCA; p.I68fs*39; 19:33302213-33302214 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.898C>G; p.R300G; 19:33301517-33301517 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.238_239insG; p.D80fs*28; 19:33302176-33302177 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.238_239insG; p.D80fs*28; 19:33302176-33302177 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.256_262delCGGCAGC; p.Q87fs*71; 19:33302153-33302159 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.951_956delGACCAG; p.L317_S319>L; 19:33301459-33301464 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.238_239insG; p.D80fs*28; 19:33302176-33302177 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.183_184insC; p.I62fs*46; 19:33302231-33302232 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.866G>C; p.R289P; 19:33301549-33301549 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.529_530GG>TT; p.G177F; 19:33301885-33301886 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.66_78del13; p.P23fs*133; 19:33302337-33302349 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.529_530GG>TT; p.G177F; 19:33301885-33301886 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.218_219insA; p.F73fs*35; 19:33302196-33302197 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.944_945ins36; p.L315_E316ins12; 19:33301470-33301471 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.856_857ins10; p.R286fs*38; 19:33301558-33301559 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.933_934insCAG; p.Q311_Q312insQ; 19:33301481-33301482 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.384_385insG; p.P129fs*41; 19:33302030-33302031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.921_922insAAC; p.N307_V308insN; 19:33301493-33301494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.945_945G>TTCT; p.315_316>S; 19:33301470-33301470 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.384_385insG; p.P129fs*41; 19:33302030-33302031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.144_154del11; p.P49fs*55; 19:33302261-33302271 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.142_143insGGGG; p.A48fs*61; 19:33302272-33302273 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.937_938insCAG; p.K313>EK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.176_177insGAGA; p.T60fs*49; 19:33302238-33302239 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.939_940insTCT; p.K313_V314insS; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.243_244insGTCG; p.F82fs*27; 19:33302171-33302172 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.939_940insTCT; p.K313_V314insS; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.937_938insCAG; p.K313>EK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.704delC; p.P235fs*83; 19:33301711-33301711 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.70_71insC; p.H24fs*84; 19:33302344-33302345 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.209delC; p.P70fs*90; 19:33302206-33302206 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.180_181insTCCC; p.T60fs*49; 19:33302234-33302235 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.436_437insC; p.L146fs*24; 19:33301978-33301979 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.881_882TC>AA; p.I294K; 19:33301533-33301534 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.74_75insAGCG; p.P26fs*83; 19:33302340-33302341 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.930_931ins12; p.T310_Q311insGGQT; 19:33301484-33301485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.930_931insGTG; p.T310_Q311insV; 19:33301484-33301485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.930_931insGTG; p.T310_Q311insV; 19:33301484-33301485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.198delC; p.Y67fs*93; 19:33302217-33302217 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.946G>A; p.E316K; 19:33301469-33301469 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.722_746del25; p.G242fs*68; 19:33301669-33301693 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.890G>C; p.R297P; 19:33301525-33301525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.890G>C; p.R297P; 19:33301525-33301525 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.196_197insNN; p.A66fs*95; 19:33302218-33302219 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.946G>A; p.E316K; 19:33301469-33301469 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.68delC; p.P23fs*137; 19:33302347-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.480_481insGTAA; p.K161fs*10; 19:33301934-33301935 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.480_481insGTAA; p.K161fs*10; 19:33301934-33301935 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.351delC; p.A118fs*42; 19:33302064-33302064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1051_1055GTCAA>150; p.V351fs*58; 19:33301360-33301364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.351delC; p.A118fs*42; 19:33302064-33302064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.878_880delACA; p.N293del; 19:33301535-33301537 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.878_880delACA; p.N293del; 19:33301535-33301537 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.958_959ins54; p.D320>19; 19:33301456-33301457 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.494delG; p.R165fs*153; 19:33301921-33301921 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.878_880delACA; p.N293del; 19:33301535-33301537 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.940_941ins33; p.K313_V314ins11; 19:33301474-33301475 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.141delC; p.A47fs*113; 19:33302274-33302274 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.211_212insNN; p.A71fs*90; 19:33302203-33302204 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.50_68>CT; p.S17fs*85; 19:33302347-33302365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.196_197insTAGG; p.A66fs*43; 19:33302218-33302219 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.923_924insCTC; p.V308_E309insL; 19:33301491-33301492 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.141delC; p.A47fs*113; 19:33302274-33302274 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.961_961A>TCAT; p.N321>SY; 19:33301454-33301454 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.948_949ins36; p.E316_L317ins12; 19:33301466-33301467 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.196_197insTAGG; p.A66fs*43; 19:33302218-33302219 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.974_975delGC; p.R325fs*35; 19:33301440-33301441 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.889C>A; p.R297S; 19:33301526-33301526 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.925_926ins18; p.E309>AKQRNVE; 19:33301489-33301490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.974_975delGC; p.R325fs*35; 19:33301440-33301441 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.58C>T; p.Q20*; 19:33302357-33302357 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.58C>T; p.Q20*; 19:33302357-33302357 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1053_1054ins129; p.V351_K352ins43; 19:33301361-33301362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.58C>T; p.Q20*; 19:33302357-33302357 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.967C>G; p.R323G; 19:33301448-33301448 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.539delC; p.P180fs*138; 19:33301876-33301876 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.295_296insCCCCACGG; p.G99fs*64; 19:33302119-33302120 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.295_296insCCCCACGG; p.G99fs*64; 19:33302119-33302120 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.62_63ins13; p.S21fs*91; 19:33302352-33302353 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.539delC; p.P180fs*138; 19:33301876-33301876 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1038_1039ins125; p.E347fs*13; 19:33301376-33301377 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.304G>A; p.G102S; 19:33302111-33302111 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.75_76insNNNNNN; p.A25_P26insGC; 19:33302339-33302340 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.311_313delGCG; p.G104del; 19:33302102-33302104 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.311_313delGCG; p.G104del; 19:33302102-33302104 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.924_925ins24; p.V308_E309insDKAKQRNV; 19:33301490-33301491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.159_161CGG>TT; p.G54fs*106; 19:33302254-33302256 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.311_313delGCG; p.G104del; 19:33302102-33302104 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.69_70insGC; p.H24fs*137; 19:33302344-33302345 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1076G>C; p.*359S; 19:33301339-33301339 |
lung | carcinoma; squamous_cell_carcinoma | Nonstop extension |
c.589_590insACCCGC; p.P196_P197insHP; 19:33301825-33301826 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.813delG; p.G272fs*46; 19:33301602-33301602 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.589_590insACCCGC; p.P196_P197insHP; 19:33301825-33301826 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.589_590insACCCGC; p.P196_P197insHP; 19:33301825-33301826 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.589_590insACCCGC; p.P196_P197insHP; 19:33301825-33301826 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.913C>T; p.Q305*; 19:33301502-33301502 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.589_590insACCCGC; p.P196_P197insHP; 19:33301825-33301826 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.608_608delC; p.P204fs*114; 19:33301807-33301807 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.968G>A; p.R323H; 19:33301447-33301447 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1065_1066insGCC; p.G355_N356insA; 19:33301349-33301350 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1065_1066insGCC; p.G355_N356insA; 19:33301349-33301350 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940ins45; p.K313_V314ins15; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.931_932insCGC; p.Q311>PQ; 19:33301483-33301484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.418_419insGTTCG; p.D140fs*22; 19:33301996-33301997 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.954_965del12; p.S319_D322>del; 19:33301450-33301461 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.954_965del12; p.S319_D322>del; 19:33301450-33301461 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.968G>A; p.R323H; 19:33301447-33301447 |
liver | carcinoma | Substitution - Missense |
c.152_167del16; p.L52fs*103; 19:33302248-33302263 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.102_111del10; p.R35fs*122; 19:33302304-33302313 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.245_246insTGTT; p.Q83fs*26; 19:33302169-33302170 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.245_246insTGTT; p.Q83fs*26; 19:33302169-33302170 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.333_334ins20; p.P112fs*56; 19:33302081-33302082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.102_111del10; p.R35fs*122; 19:33302304-33302313 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.135_156del22; p.P46fs*107; 19:33302259-33302280 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.102_111del10; p.R35fs*122; 19:33302304-33302313 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.135_156del22; p.P46fs*107; 19:33302259-33302280 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.287_311del25; p.G96fs*56; 19:33302104-33302128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.152_167del16; p.L52fs*103; 19:33302248-33302263 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.201C>A; p.Y67*; 19:33302214-33302214 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Nonsense |
c.944_945insGCA; p.L315_E316ins?; 19:33301470-33301471 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.245_246insTGTT; p.Q83fs*26; 19:33302169-33302170 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.287_311del25; p.G96fs*56; 19:33302104-33302128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.928_933delACGCAG; p.T310_Q311del; 19:33301482-33301487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.152_167del16; p.L52fs*103; 19:33302248-33302263 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.102_111del10; p.R35fs*122; 19:33302304-33302313 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.365G>A; p.G122E; 19:33302050-33302050 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.365G>A; p.G122E; 19:33302050-33302050 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.337_338insC; p.G116fs*54; 19:33302077-33302078 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.19_20insT; p.Y7fs*101; 19:33302395-33302396 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1043_1044insAG; p.S348fs*13; 19:33301371-33301372 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.931C>A; p.Q311K; 19:33301484-33301484 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.941_942ins181; p.L315fs*66; 19:33301473-33301474 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.200_201insNNNNN; p.Y67fs*95; 19:33302214-33302215 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.274_275insA; p.A93fs*15; 19:33302140-33302141 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.939_940insAAG; p.K313_V314insK; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.498_499insG; p.E167fs*3; 19:33301916-33301917 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1000G>T; p.E334*; 19:33301415-33301415 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.935_936ins24; p.K313fs*6; 19:33301479-33301480 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.937_939delAAG; p.K313del; 19:33301476-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.318_319insA; p.D107fs*63; 19:33302096-33302097 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.883G>C; p.A295P; 19:33301532-33301532 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.937_939delAAG; p.K313del; 19:33301476-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.951_952ins15; p.L317_T318insKVLEL; 19:33301463-33301464 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.937_939delAAG; p.K313del; 19:33301476-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.937_939delAAG; p.K313del; 19:33301476-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.913_914insTGC; p.K304_Q305insL; 19:33301501-33301502 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.937_939delAAG; p.K313del; 19:33301476-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.937_939delAAG; p.K313del; 19:33301476-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.940_940G>CAGAAGA; p.V314>QKM; 19:33301475-33301475 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.189_190delCA; p.I64fs*43; 19:33302225-33302226 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.98_99delTT; p.F33fs*74; 19:33302316-33302317 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.934_935insGGC; p.Q311_Q312insR; 19:33301480-33301481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.205_206insATCG; p.P70fs*39; 19:33302209-33302210 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.929_930ins18; p.T310_Q311>insQRNVET; 19:33301485-33301486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.929_930ins18; p.T310_Q311>insQRNVET; 19:33301485-33301486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.71_81del11; p.H24fs*80; 19:33302334-33302344 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.87_88insGC; p.F31fs*130; 19:33302327-33302328 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.313_314insGGC; p.D105>GD; 19:33302101-33302102 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.724_725insCGCTCG; p.G242_A243insLA; 19:33301690-33301691 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.87_88insGC; p.F31fs*130; 19:33302327-33302328 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.114_120delCCCCGCG; p.P39fs*119; 19:33302295-33302301 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.981G>A; p.R327R; 19:33301434-33301434 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.114_120delCCCCGCG; p.P39fs*119; 19:33302295-33302301 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.936_937insCAGCAG; p.Q312_K313insQQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.868G>A; p.E290K; 19:33301547-33301547 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.966_967ins33; p.D322_R323ins11; 19:33301448-33301449 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.168C>A; p.C56*; 19:33302247-33302247 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Substitution - Nonsense |
c.939_940ins36; p.K313_V314ins12; 19:33301475-33301476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.329_335delGCGCGCC; p.G110fs*48; 19:33302080-33302086 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.329_335delGCGCGCC; p.G110fs*48; 19:33302080-33302086 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.713_714insACCCCGC; p.A240fs*83; 19:33301701-33301702 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.919_936del18; p.N307_Q312del; 19:33301479-33301496 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.962_965delATGA; p.N321fs*10; 19:33301450-33301453 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.900C>T; p.R300R; 19:33301515-33301515 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.900C>T; p.R300R; 19:33301515-33301515 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.570_571insGCACCC; p.S190_H191insAP; 19:33301844-33301845 |
lung | carcinoma; squamous_cell_carcinoma | Insertion - In frame |
c.531_532insG; p.L178fs*143; 19:33301883-33301884 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.271_272insT; p.A91fs*17; 19:33302143-33302144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1010C>T; p.T337M; 19:33301405-33301405 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.239_240insG; p.D80fs*28; 19:33302175-33302176 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.326_327insC; p.A111fs*59; 19:33302088-33302089 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.324C>G; p.Y108*; 19:33302091-33302091 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1010C>T; p.T337M; 19:33301405-33301405 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.938_939insGAA; p.K313_V314insK; 19:33301476-33301477 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.929_930ins21; p.T310_Q311insKQRNVET; 19:33301485-33301486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.938_939insGAA; p.K313_V314insK; 19:33301476-33301477 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.907G>C; p.A303P; 19:33301508-33301508 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.929_930ins21; p.T310_Q311insKQRNVET; 19:33301485-33301486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.929_930ins21; p.T310_Q311insKQRNVET; 19:33301485-33301486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.929_930ins21; p.T310_Q311insKQRNVET; 19:33301485-33301486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.196_197insT; p.A66fs*42; 19:33302218-33302219 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Insertion - Frameshift |
c.196_197insT; p.A66fs*42; 19:33302218-33302219 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.928_929insAGA; p.E309_T310insK; 19:33301486-33301487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.928_929insAGA; p.E309_T310insK; 19:33301486-33301487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.196_197insT; p.A66fs*42; 19:33302218-33302219 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.971T>C; p.L324P; 19:33301444-33301444 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.928_929insAGA; p.E309_T310insK; 19:33301486-33301487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.928_929insAGA; p.E309_T310insK; 19:33301486-33301487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.196_197insT; p.A66fs*42; 19:33302218-33302219 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.540T>C; p.P180P; 19:33301875-33301875 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.206_207insG; p.D69fs*39; 19:33302208-33302209 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.206_207insG; p.D69fs*39; 19:33302208-33302209 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.927_928insCCG; p.E309_T310insP; 19:33301487-33301488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.990_991ins57; p.Q330_L331ins19; 19:33301424-33301425 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.48_62del15; p.S16_Q20del; 19:33302353-33302367 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.933_934insTTC; p.Q311_Q312insF; 19:33301481-33301482 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.353delC; p.A118fs*42; 19:33302062-33302062 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.245_246insA; p.F82fs*26; 19:33302169-33302170 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.500_502delAGG; p.E167del; 19:33301913-33301915 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.949_950ins48; p.E316_L317ins17; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.951_952insGTG; p.L317_T318insV; 19:33301463-33301464 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.853T>A; p.Y285N; 19:33301562-33301562 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247_248insC; p.Q83fs*25; 19:33302167-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.213_214insGGCC; p.A72fs*37; 19:33302201-33302202 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.856_857insC; p.R286fs*35; 19:33301558-33301559 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.247delC; p.Q83fs*77; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.177_184delGACGTCCA; p.E59fs*46; 19:33302231-33302238 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.202_203insACA; p.I68>NI; 19:33302212-33302213 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.916_917ins18; p.R306>RRNVDKQ; 19:33301498-33301499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.949_950ins27; p.L317_T318insETQQKVLEL; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.235_236insNNNNN; p.A79fs*83; 19:33302179-33302180 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.971T>A; p.L324Q; 19:33301444-33301444 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.971T>A; p.L324Q; 19:33301444-33301444 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.924_925ins28; p.E309fs*21; 19:33301490-33301491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.920_921ins9; p.N307_V308insQRN; 19:33301494-33301495 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.577_578insGCCCGC; p.H193_H193insRPH; 19:33301837-33301838 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.920_921ins9; p.N307_V308insQRN; 19:33301494-33301495 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.920_921ins9; p.N307_V308insQRN; 19:33301494-33301495 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.976A>T; p.K326*; 19:33301439-33301439 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.166_167ins13; p.C56fs*56; 19:33302248-33302249 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.907_908insNNN; p.A303>VA; 19:33301507-33301508 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.166_167ins13; p.C56fs*56; 19:33302248-33302249 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.949_950insGTC; p.E316_L317insR; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.20_21insA; p.Y7fs*1; 19:33302394-33302395 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.949_950insGTC; p.E316_L317insR; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.332_339delCGCCCGCG; p.A111fs*56; 19:33302076-33302083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.933_935delGCA; p.Q312del; 19:33301480-33301482 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.568_569insT; p.S190fs*131; 19:33301846-33301847 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.949_950insGTC; p.E316_L317insR; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.593_594insGCCGCCCC; p.A199fs*122; 19:33301821-33301822 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.181_190del10; p.I62fs*95; 19:33302225-33302234 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.949_950insGTC; p.E316_L317insR; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.593_594insGCCGCCCC; p.A199fs*122; 19:33301821-33301822 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.949_950insGTC; p.E316_L317insR; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.949_950insGTC; p.E316_L317insR; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.907_912delGCCAAG; p.A303_K304del; 19:33301503-33301508 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.20_21insA; p.Y7fs*1; 19:33302394-33302395 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.949_950insGTC; p.E316_L317insR; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.332_339delCGCCCGCG; p.A111fs*56; 19:33302076-33302083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.949_950insGTC; p.E316_L317insR; 19:33301465-33301466 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.332_339delCGCCCGCG; p.A111fs*56; 19:33302076-33302083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.933_935delGCA; p.Q312del; 19:33301480-33301482 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.912_913insAAG; p.K304_Q305insK; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.316_317insT; p.D107fs*1; 19:33302098-33302099 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.934_935insTGC; p.Q311_Q312insL; 19:33301480-33301481 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.226_227insG; p.E76fs*32; 19:33302188-33302189 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.350delG; p.G117fs*43; 19:33302065-33302065 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.912_913insAAG; p.K304_Q305insK; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.979_980ins60; p.K326_R327ins20; 19:33301435-33301436 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.921_922insCAC; p.N307_V308insH; 19:33301493-33301494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.912_913insAAG; p.K304_Q305insK; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.573C>T; p.H191H; 19:33301842-33301842 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.350delG; p.G117fs*43; 19:33302065-33302065 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.707_719del13; p.H236fs*78; 19:33301696-33301708 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.951_952insCTG; p.L317_T318insL; 19:33301463-33301464 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1000G>A; p.E334K; 19:33301415-33301415 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1037_1077>T; p.?; 19:33301262-33301378 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.339_342delGGGC; p.G114fs*45; 19:33302073-33302076 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1037_1077>T; p.?; 19:33301262-33301378 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Unknown |
c.1037_1077>T; p.?; 19:33301262-33301378 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Unknown |
c.1037_1077>T; p.?; 19:33301262-33301378 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Unknown |
c.339_342delGGGC; p.G114fs*45; 19:33302073-33302076 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.345_346insC; p.G116fs*54; 19:33302069-33302070 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1066_1071delAACTGC; p.N356_C357del; 19:33301344-33301349 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.50_56delGCCACCT; p.H18fs*140; 19:33302359-33302365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.212_213insCC; p.A72fs*89; 19:33302202-33302203 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.230_233delTCCT; p.F77fs*82; 19:33302182-33302185 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.903_904insCAG; p.D301_K302insQ; 19:33301511-33301512 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.321_322insT; p.Y108fs*62; 19:33302093-33302094 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.348C>T; p.G116G; 19:33302067-33302067 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.947_948ins36; p.L315_E316ins12; 19:33301467-33301468 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.181_182insGGGACGT; p.S61fs*49; 19:33302233-33302234 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.193_194insA; p.S65fs*43; 19:33302221-33302222 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.917_934del18; p.R306fs*48; 19:33301481-33301498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.247C>T; p.Q83*; 19:33302168-33302168 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.917_934del18; p.R306fs*48; 19:33301481-33301498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.917_934del18; p.R306fs*48; 19:33301481-33301498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.177_186del10; p.I62fs*95; 19:33302229-33302238 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.927_928insGAG; p.E309_T310insE; 19:33301487-33301488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.927_928insGAG; p.E309_T310insE; 19:33301487-33301488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.927_928insGAG; p.E309_T310insE; 19:33301487-33301488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.927_928insGAG; p.E309_T310insE; 19:33301487-33301488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.927_928insGAG; p.E309_T310insE; 19:33301487-33301488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.927_928insGAG; p.E309_T310insE; 19:33301487-33301488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.887_888insT; p.R297fs*24; 19:33301527-33301528 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Insertion - Frameshift |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.64_65delCC; p.P23fs*84; 19:33302350-33302351 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.196_199GCCT>CTAC; p.A66_Y67>LH; 19:33302216-33302219 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - compound substitution |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.64_65delCC; p.P23fs*84; 19:33302350-33302351 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.936_937insCAG; p.Q312_K313insQ; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.477_478insGTCCCCC; p.I160fs*12; 19:33301937-33301938 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.71_119del49; p.H24fs*120; 19:33302296-33302344 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.340_341delGG; p.G114fs*55; 19:33302074-33302075 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.340_341delGG; p.G114fs*55; 19:33302074-33302075 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.340_341delGG; p.G114fs*55; 19:33302074-33302075 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.130delG; p.A44fs*116; 19:33302285-33302285 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.233delT; p.L78fs*82; 19:33302182-33302182 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.65_75del11; p.P23fs*81; 19:33302340-33302350 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.87_90delCGCC; p.A30fs*129; 19:33302325-33302328 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.456G>A; p.A152A; 19:33301959-33301959 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.179_180insTC; p.S61fs*100; 19:33302235-33302236 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Insertion - Frameshift |
c.179_180insTC; p.S61fs*100; 19:33302235-33302236 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Insertion - Frameshift |
c.936_937insCTG; p.Q312_K313insL; 19:33301478-33301479 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.940_941insAAG; p.K313_V314>insE; 19:33301474-33301475 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.940_941insAAG; p.K313_V314>insE; 19:33301474-33301475 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.398_399delGC; p.A134fs*35; 19:33302016-33302017 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Deletion - Frameshift |
c.91_92insGCCGCCT; p.F31fs*79; 19:33302323-33302324 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insAAG; p.K313_V314>insE; 19:33301474-33301475 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.940_941insAAG; p.K313_V314>insE; 19:33301474-33301475 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.91_92insGCCGCCT; p.F31fs*79; 19:33302323-33302324 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.179_180insTC; p.S61fs*100; 19:33302235-33302236 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insAAG; p.K313_V314>insE; 19:33301474-33301475 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.940_941insAAG; p.K313_V314>insE; 19:33301474-33301475 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.405C>A; p.A135A; 19:33302010-33302010 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.335_336delCC; p.P112fs*57; 19:33302079-33302080 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.405C>A; p.A135A; 19:33302010-33302010 |
prostate | carcinoma | Substitution - coding silent |
c.172_182del11; p.E59fs*45; 19:33302233-33302243 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.61A>G; p.S21G; 19:33302354-33302354 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.941_942insCTT; p.L315_E316insL; 19:33301473-33301474 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.969_970insGACCGC; p.R323_L324insDR; 19:33301445-33301446 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - In frame |
c.289_290insGGCC; p.P97fs*12; 19:33302125-33302126 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.899G>T; p.R300L; 19:33301516-33301516 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.899G>T; p.R300L; 19:33301516-33301516 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.238_247del10; p.D80fs*77; 19:33302168-33302177 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.914_915insAGG; p.Q305>QG; 19:33301500-33301501 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.246delC; p.F82fs*78; 19:33302169-33302169 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.246delC; p.F82fs*78; 19:33302169-33302169 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.115_121delCCCGCGC; p.P39fs*119; 19:33302294-33302300 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.246delC; p.F82fs*78; 19:33302169-33302169 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.623_624insGGGTC; p.F208fs*112; 19:33301791-33301792 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.68_78del11; p.P23fs*81; 19:33302337-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68_78del11; p.P23fs*81; 19:33302337-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.68_78del11; p.P23fs*81; 19:33302337-33302347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.912_913ins?; p.K304_Q305insL; 19:33301502-33301503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.178_179insGA; p.T60fs*101; 19:33302236-33302237 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.178_179insGA; p.T60fs*101; 19:33302236-33302237 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1072G>T; p.A358S; 19:33301343-33301343 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.568_594del27; p.S190_P198del; 19:33301821-33301847 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.592_684del93; p.P198_P228del; 19:33301731-33301823 |
lung | carcinoma; adenocarcinoma | Deletion - In frame |
c.39_48del10; p.P14fs*143; 19:33302367-33302376 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.39_48del10; p.P14fs*143; 19:33302367-33302376 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.326_327insACCC; p.G110fs*61; 19:33302088-33302089 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.925_926insTGG; p.V308_E309insV; 19:33301489-33301490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.176A>G; p.E59G; 19:33302239-33302239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.925_926insTGG; p.V308_E309insV; 19:33301489-33301490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.52_53ins11; p.H18fs*146; 19:33302362-33302363 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.925_926insTGG; p.V308_E309insV; 19:33301489-33301490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.925_926insTGG; p.V308_E309insV; 19:33301489-33301490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.925_926insTGG; p.V308_E309insV; 19:33301489-33301490 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.937_938insAGA; p.K313_V314insK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.937_938insAGA; p.K313_V314insK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.937_938insAGA; p.K313_V314insK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.200_201insCCTA; p.I68fs*41; 19:33302214-33302215 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.937_938insAGA; p.K313_V314insK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.182delC; p.I62fs*98; 19:33302233-33302233 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.938_939insTCT; p.K313>KL; 19:33301476-33301477 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.480_480delC; p.K161fs*157; 19:33301935-33301935 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.937_938insAGA; p.K313_V314insK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.937_938insAGA; p.K313_V314insK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.937_938insAGA; p.K313_V314insK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.956_957insNNN; p.S319>RL; 19:33301458-33301459 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.937_938insAGA; p.K313_V314insK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.182delC; p.I62fs*98; 19:33302233-33302233 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.937_938insAGA; p.K313_V314insK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.937_938insAGA; p.K313_V314insK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.182delC; p.I62fs*98; 19:33302233-33302233 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.937_938insAGA; p.K313_V314insK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.937_938insAGA; p.K313_V314insK; 19:33301477-33301478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.82_124del43; p.S28fs*118; 19:33302291-33302333 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1055delA; p.K352fs*>7; 19:33301360-33301360 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.663delG; p.Q221fs*97; 19:33301752-33301752 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.663delG; p.Q221fs*97; 19:33301752-33301752 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.909C>A; p.A303A; 19:33301506-33301506 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |