| Gene ID | 567 |
| Symbol | B2M |
| Synonymous | - |
| Full name | beta-2-microglobulin |
| Gene description | beta chain of MHC class I molecules|beta-2-microglobin |
| Cytoband | 15q21.1 |
| Gene type | protein-coding |
| Synonymous | MIM:109700; HGNC:HGNC:914; Ensembl:ENSG00000166710; HPRD:00189 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.258C>G; p.Y86*; 15:44715613-44715613 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.345G>A; p.W115*; 15:44715700-44715700 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.22G>C; p.A8P; 15:44711568-44711568 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.166G>T; p.E56*; 15:44715521-44715521 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.108G>T; p.E36D; 15:44715463-44715463 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.166G>T; p.E56*; 15:44715521-44715521 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.166G>T; p.E56*; 15:44715521-44715521 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.190G>T; p.E64*; 15:44715545-44715545 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.160G>A; p.D54N; 15:44715515-44715515 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.349C>T; p.R117*; 15:44716331-44716331 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.349C>T; p.R117*; 15:44716331-44716331 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.349C>T; p.R117*; 15:44716331-44716331 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.68-1G>T; p.?; 15:44715422-44715422 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.68-1G>T; p.?; 15:44715422-44715422 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.244T>G; p.F82V; 15:44715599-44715599 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.152A>C; p.H51P; 15:44715507-44715507 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.338T>G; p.V113G; 15:44715693-44715693 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.128T>C; p.L43P; 15:44715483-44715483 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.298T>G; p.C100G; 15:44715653-44715653 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.7C>T; p.R3C; 15:44711553-44711553 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.7C>T; p.R3C; 15:44711553-44711553 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.23C>A; p.A8D; 15:44711569-44711569 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7C>T; p.R3C; 15:44711553-44711553 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.7C>T; p.R3C; 15:44711553-44711553 |
breast | carcinoma | Substitution - Missense |
c.122_123insT; p.L43fs*14; 15:44715477-44715478 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.131A>T; p.N44I; 15:44715486-44715486 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1A>G; p.M1V; 15:44711547-44711547 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1A>G; p.M1V; 15:44711547-44711547 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1A>G; p.M1V; 15:44711547-44711547 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.88T>C; p.Y30H; 15:44715443-44715443 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1A>G; p.M1V; 15:44711547-44711547 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1-7_3del3; p.?; 15:44711547-44711549 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Unknown |
c.2T>G; p.M1R; 15:44711548-44711548 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2T>G; p.M1R; 15:44711548-44711548 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2T>G; p.M1R; 15:44711548-44711548 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.119C>G; p.S40*; 15:44715474-44715474 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.119C>G; p.S40*; 15:44715474-44715474 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.133T>G; p.C45G; 15:44715488-44715488 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.139G>A; p.V47M; 15:44715494-44715494 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.200delA; p.V69fs*34; 15:44715555-44715555 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.200delA; p.V69fs*34; 15:44715555-44715555 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.200delA; p.V69fs*34; 15:44715555-44715555 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.200delA; p.V69fs*34; 15:44715555-44715555 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.200delA; p.V69fs*34; 15:44715555-44715555 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.200delA; p.V69fs*34; 15:44715555-44715555 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.200delA; p.V69fs*34; 15:44715555-44715555 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.211C>A; p.H71N; 15:44715566-44715566 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.197T>A; p.I66N; 15:44715552-44715552 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.8G>A; p.R3H; 15:44711554-44711554 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.293A>G; p.Y98C; 15:44715648-44715648 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.67+1G>A; p.?; 15:44711614-44711614 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.67+1G>A; p.?; 15:44711614-44711614 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Unknown |
c.67+1G>A; p.?; 15:44711614-44711614 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Unknown |
c.67+1G>A; p.?; 15:44711614-44711614 |
skin | malignant_melanoma | Unknown |
c.67+1G>A; p.?; 15:44711614-44711614 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Unknown |
c.67+1G>A; p.?; 15:44711614-44711614 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.289G>A; p.E97K; 15:44715644-44715644 |
breast | carcinoma | Substitution - Missense |
c.355A>T; p.M119L; 15:44716337-44716337 |
skin | malignant_melanoma | Substitution - Missense |
c.215C>G; p.S72*; 15:44715570-44715570 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.215C>G; p.S72*; 15:44715570-44715570 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.325C>T; p.Q109*; 15:44715680-44715680 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.251T>G; p.L84R; 15:44715606-44715606 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.292T>G; p.Y98D; 15:44715647-44715647 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.68-2A>G; p.?; 15:44715421-44715421 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.68-2A>G; p.?; 15:44715421-44715421 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.68-2A>G; p.?; 15:44715421-44715421 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.68-2A>G; p.?; 15:44715421-44715421 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.41_45CTCTT>C; p.S16fs*27; 15:44711587-44711591 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Complex - frameshift |
c.55G>T; p.E19*; 15:44711601-44711601 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.227T>G; p.F76C; 15:44715582-44715582 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.64C>T; p.Q22*; 15:44711610-44711610 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Nonsense |
c.64C>T; p.Q22*; 15:44711610-44711610 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.64C>T; p.Q22*; 15:44711610-44711610 |
haematopoietic_and_lymphoid_tissue; abdomen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.271_272insC; p.T93fs*2; 15:44715626-44715627 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.64C>T; p.Q22*; 15:44711610-44711610 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.284_285insA; p.D96fs*2; 15:44715639-44715640 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Insertion - Frameshift |
c.179_180insT; p.K61fs*7; 15:44715534-44715535 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Insertion - Frameshift |
c.17C>T; p.A6V; 15:44711563-44711563 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.179T>C; p.L60P; 15:44715534-44715534 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.22G>A; p.A8T; 15:44711568-44711568 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.272delC; p.T93fs*10; 15:44715627-44715627 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.272delC; p.T93fs*10; 15:44715627-44715627 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.272delC; p.T93fs*10; 15:44715627-44715627 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.43C>T; p.L15F; 15:44711589-44711589 |
breast | carcinoma | Substitution - Missense |
c.1A>C; p.M1L; 15:44711547-44711547 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.37C>T; p.L13F; 15:44711583-44711583 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.128T>G; p.L43R; 15:44715483-44715483 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.248A>T; p.Y83F; 15:44715603-44715603 |
breast | carcinoma | Substitution - Missense |
c.43_44delCT; p.L15fs*41; 15:44711589-44711590 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Deletion - Frameshift |
c.43_44delCT; p.L15fs*41; 15:44711589-44711590 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.90C>A; p.Y30*; 15:44715445-44715445 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.90C>A; p.Y30*; 15:44715445-44715445 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.199_200insA; p.V69fs*21; 15:44715554-44715555 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.280G>A; p.E94K; 15:44715635-44715635 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.90C>A; p.Y30*; 15:44715445-44715445 |
large_intestine; colon | carcinoma | Substitution - Nonsense |
c.90C>A; p.Y30*; 15:44715445-44715445 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.90C>A; p.Y30*; 15:44715445-44715445 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.187G>T; p.G63*; 15:44715542-44715542 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.108G>A; p.E36E; 15:44715463-44715463 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.35T>A; p.L12Q; 15:44711581-44711581 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.35T>A; p.L12Q; 15:44711581-44711581 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.76A>G; p.K26E; 15:44715431-44715431 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.256T>A; p.Y86N; 15:44715611-44715611 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.297_346+57del107; p.?; 15:44715652-44715758 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.239G>A; p.W80*; 15:44715594-44715594 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.283A>T; p.K95*; 15:44715638-44715638 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.283A>T; p.K95*; 15:44715638-44715638 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.121A>C; p.N41H; 15:44715476-44715476 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.283A>T; p.K95*; 15:44715638-44715638 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.283A>T; p.K95*; 15:44715638-44715638 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.283A>T; p.K95*; 15:44715638-44715638 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.283A>T; p.K95*; 15:44715638-44715638 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.283A>T; p.K95*; 15:44715638-44715638 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.31_41del11; p.A11fs*42; 15:44711577-44711587 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.208G>T; p.E70*; 15:44715563-44715563 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.292T>A; p.Y98N; 15:44715647-44715647 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2T>C; p.M1T; 15:44711548-44711548 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2T>C; p.M1T; 15:44711548-44711548 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2T>C; p.M1T; 15:44711548-44711548 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.210G>A; p.E70E; 15:44715565-44715565 |
liver | carcinoma | Substitution - coding silent |
c.210G>A; p.E70E; 15:44715565-44715565 |
liver | carcinoma | Substitution - coding silent |
c.42_45delTCTT; p.S16fs*27; 15:44711588-44711591 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.249T>G; p.Y83*; 15:44715604-44715604 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.185A>C; p.N62T; 15:44715540-44715540 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.42_45delTCTT; p.S16fs*27; 15:44711588-44711591 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.42_45delTCTT; p.S16fs*27; 15:44711588-44711591 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.42_45delTCTT; p.S16fs*27; 15:44711588-44711591 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.358T>C; p.*120Q; 15:44716340-44716340 |
large_intestine; colon | carcinoma; adenocarcinoma | Nonstop extension |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine; colon | NS | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
skin; trunk | malignant_melanoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.20T>C; p.L7S; 15:44711566-44711566 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
skin; trunk | malignant_melanoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.37_38delCT; p.L15fs*41; 15:44711583-44711584 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3G>A; p.M1I; 15:44711549-44711549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3G>A; p.M1I; 15:44711549-44711549 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3G>A; p.M1I; 15:44711549-44711549 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3G>A; p.M1I; 15:44711549-44711549 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3G>A; p.M1I; 15:44711549-44711549 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1A>T; p.M1L; 15:44711547-44711547 |
skin | malignant_melanoma | Substitution - Missense |
c.1A>T; p.M1L; 15:44711547-44711547 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2T>A; p.M1K; 15:44711548-44711548 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1A>T; p.M1L; 15:44711547-44711547 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2T>A; p.M1K; 15:44711548-44711548 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.179_220del42; p.K61_L74del; 15:44715534-44715575 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - In frame |
c.38T>C; p.L13P; 15:44711584-44711584 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.141G>A; p.V47V; 15:44715496-44715496 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.265G>T; p.E89*; 15:44715620-44715620 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.265G>T; p.E89*; 15:44715620-44715620 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.159C>T; p.S53S; 15:44715514-44715514 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.192delG; p.R65fs*38; 15:44715547-44715547 |
skin; chest | malignant_melanoma | Deletion - Frameshift |
c.67+2T>A; p.?; 15:44711615-44711615 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Unknown |
c.35T>C; p.L12P; 15:44711581-44711581 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |