| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 5885 |
Name | RAD21 |
Synonymous | RAD21 homolog (S. pombe);RAD21;RAD21 homolog (S. pombe) |
Definition | NXP-1|SCC1 homolog|double-strand-break repair protein rad21 homolog|nuclear matrix protein 1|protein involved in DNA double-strand break repair|sister chromatid cohesion 1 |
Position | 8q24 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.9C>G; p.Y3*; 8:116866721-116866721 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.634G>T; p.E212*; 8:116857321-116857321 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1251C>T; p.L417L; 8:116852619-116852619 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.622C>T; p.H208Y; 8:116857333-116857333 |
pancreas | carcinoma | Substitution - Missense |
c.1644T>G; p.D548E; 8:116849006-116849006 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1783G>A; p.A595T; 8:116847613-116847613 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1084A>T; p.M362L; 8:116854322-116854322 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1522G>C; p.E508Q; 8:116850716-116850716 |
breast | carcinoma | Substitution - Missense |
c.1517C>T; p.P506L; 8:116850721-116850721 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1878A>C; p.P626P; 8:116847518-116847518 |
pancreas | carcinoma | Substitution - coding silent |
c.1064C>T; p.P355L; 8:116854342-116854342 |
liver | carcinoma | Substitution - Missense |
c.919G>T; p.E307*; 8:116856184-116856184 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1552G>A; p.E518K; 8:116850686-116850686 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.328T>C; p.L110L; 8:116861887-116861887 |
skin | malignant_melanoma | Substitution - coding silent |
c.786C>T; p.D262D; 8:116856674-116856674 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.408T>C; p.N136N; 8:116858425-116858425 |
liver | carcinoma | Substitution - coding silent |
c.660_661insGTAAGAAT; p.G221fs*12; 8:116857294-116857295 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1349G>A; p.R450H; 8:116852069-116852069 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.732_733insT; p.P245fs*6; 8:116856727-116856728 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.1328C>T; p.P443L; 8:116852090-116852090 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.645T>A; p.Y215*; 8:116857310-116857310 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1238T>G; p.L413W; 8:116852632-116852632 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.54G>C; p.W18C; 8:116866676-116866676 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1880G>A; p.R627K; 8:116847516-116847516 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1745T>C; p.L582P; 8:116847651-116847651 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.815-1G>T; p.?; 8:116856289-116856289 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.1255G>A; p.E419K; 8:116852615-116852615 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1407T>A; p.P469P; 8:116852011-116852011 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.595A>G; p.T199A; 8:116857360-116857360 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.787G>A; p.D263N; 8:116856673-116856673 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.177_178delCT; p.L60fs*19; 8:116863226-116863227 |
breast | carcinoma | Deletion - Frameshift |
c.160C>T; p.R54W; 8:116863244-116863244 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1786A>G; p.K596E; 8:116847610-116847610 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>A; p.E266K; 8:116856664-116856664 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1764G>A; p.T588T; 8:116847632-116847632 |
breast | carcinoma | Substitution - coding silent |
c.1764G>A; p.T588T; 8:116847632-116847632 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.133A>G; p.I45V; 8:116866597-116866597 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1756C>T; p.R586*; 8:116847640-116847640 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1756C>T; p.R586*; 8:116847640-116847640 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1438_1439insA; p.A480fs*5; 8:116851979-116851980 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.424G>C; p.E142Q; 8:116858409-116858409 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1420C>A; p.Q474K; 8:116851998-116851998 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1238T>A; p.L413*; 8:116852632-116852632 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.424G>C; p.E142Q; 8:116858409-116858409 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.124G>A; p.E42K; 8:116866606-116866606 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1648G>T; p.D550Y; 8:116849002-116849002 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1729G>T; p.E577*; 8:116847667-116847667 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Nonsense |
c.1850A>G; p.Y617C; 8:116847546-116847546 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1218A>G; p.K406K; 8:116852652-116852652 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.640C>A; p.Q214K; 8:116857315-116857315 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.583T>C; p.S195P; 8:116857372-116857372 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1310G>A; p.R437H; 8:116852560-116852560 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1310G>A; p.R437H; 8:116852560-116852560 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1422G>T; p.Q474H; 8:116851996-116851996 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1228G>T; p.A410S; 8:116852642-116852642 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.372_373insA; p.D125fs*2; 8:116861842-116861843 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1568C>A; p.P523Q; 8:116850670-116850670 |
skin | malignant_melanoma | Substitution - Missense |
c.385G>T; p.V129L; 8:116858448-116858448 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.243A>G; p.A81A; 8:116863161-116863161 |
prostate | carcinoma | Substitution - coding silent |
c.1526C>A; p.P509H; 8:116850712-116850712 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.100G>C; p.E34Q; 8:116866630-116866630 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.346G>A; p.D116N; 8:116861869-116861869 |
pancreas | carcinoma | Substitution - Missense |
c.411_412insA; p.S138fs*2; 8:116858421-116858422 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1285G>A; p.D429N; 8:116852585-116852585 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1172G>A; p.R391H; 8:116852698-116852698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1492G>A; p.E498K; 8:116850746-116850746 |
skin | malignant_melanoma | Substitution - Missense |
c.1492G>A; p.E498K; 8:116850746-116850746 |
skin | malignant_melanoma | Substitution - Missense |
c.1178T>G; p.L393R; 8:116852692-116852692 |
liver | carcinoma | Substitution - Missense |
c.1178T>G; p.L393R; 8:116852692-116852692 |
liver | carcinoma | Substitution - Missense |
c.1485G>T; p.E495D; 8:116850753-116850753 |
breast | carcinoma | Substitution - Missense |
c.1705-1G>A; p.?; 8:116847692-116847692 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.130_131insT; p.I45fs*35; 8:116866599-116866600 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1692T>C; p.L564L; 8:116848958-116848958 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.762G>C; p.M254I; 8:116856698-116856698 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.540C>T; p.D180D; 8:116857415-116857415 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.353_363del11; p.D118fs*2; 8:116861852-116861862 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.353A>T; p.D118V; 8:116861862-116861862 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.353A>T; p.D118V; 8:116861862-116861862 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.1357delG; p.E453fs*3; 8:116852061-116852061 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.161G>A; p.R54Q; 8:116863243-116863243 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.244T>A; p.F82I; 8:116863160-116863160 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.194G>A; p.R65Q; 8:116863210-116863210 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.194G>A; p.R65Q; 8:116863210-116863210 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.194G>A; p.R65Q; 8:116863210-116863210 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.269G>T; p.R90L; 8:116863135-116863135 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1121C>T; p.S374F; 8:116854285-116854285 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1121C>T; p.S374F; 8:116854285-116854285 |
skin | malignant_melanoma | Substitution - Missense |
c.1440T>C; p.A480A; 8:116851978-116851978 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.238G>T; p.E80*; 8:116863166-116863166 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1440T>C; p.A480A; 8:116851978-116851978 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1432C>T; p.R478*; 8:116851986-116851986 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1440T>C; p.A480A; 8:116851978-116851978 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1440T>C; p.A480A; 8:116851978-116851978 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1494A>G; p.E498E; 8:116850744-116850744 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.449G>T; p.G150V; 8:116858384-116858384 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.145_146insG; p.V49fs*31; 8:116863258-116863259 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1276C>T; p.P426S; 8:116852594-116852594 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1651C>T; p.Q551*; 8:116848999-116848999 |
skin | malignant_melanoma | Substitution - Nonsense |
c.950_951delAA; p.K317fs*10; 8:116854455-116854456 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.130A>G; p.I44V; 8:116866600-116866600 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.510A>T; p.I170I; 8:116857445-116857445 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.373G>C; p.D125H; 8:116861842-116861842 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.283G>C; p.D95H; 8:116861932-116861932 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1130C>G; p.A377G; 8:116854276-116854276 |
breast | carcinoma | Substitution - Missense |
c.1478A>G; p.Q493R; 8:116850760-116850760 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.456_457insTC; p.I154fs*18; 8:116858376-116858377 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1690C>T; p.L564F; 8:116848960-116848960 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.718G>A; p.G240S; 8:116856742-116856742 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.654T>A; p.D218E; 8:116857301-116857301 |
pancreas | carcinoma | Substitution - Missense |
c.723C>A; p.I241I; 8:116856737-116856737 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1119T>A; p.F373L; 8:116854287-116854287 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.1018C>T; p.Q340*; 8:116854388-116854388 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.496G>A; p.D166N; 8:116857459-116857459 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.45C>T; p.A15A; 8:116866685-116866685 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1528C>A; p.P510T; 8:116850710-116850710 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.241G>T; p.A81S; 8:116863163-116863163 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1024_1025insAA; p.S342fs*20; 8:116854381-116854382 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.38C>A; p.P13H; 8:116866692-116866692 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.367G>T; p.D123Y; 8:116861848-116861848 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1848G>A; p.P616P; 8:116847548-116847548 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.971T>C; p.L324P; 8:116854435-116854435 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1159A>C; p.K387Q; 8:116854247-116854247 |
liver | carcinoma | Substitution - Missense |
c.1159A>C; p.K387Q; 8:116854247-116854247 |
liver | carcinoma | Substitution - Missense |
c.1699C>G; p.L567V; 8:116848951-116848951 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.294G>A; p.E98E; 8:116861921-116861921 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1294C>T; p.Q432*; 8:116852576-116852576 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.461T>C; p.I154T; 8:116858372-116858372 |
skin | malignant_melanoma | Substitution - Missense |
c.482-1G>A; p.?; 8:116857474-116857474 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Unknown |
c.153G>T; p.M51I; 8:116863251-116863251 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.850G>A; p.V284I; 8:116856253-116856253 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.850G>A; p.V284I; 8:116856253-116856253 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.152T>C; p.M51T; 8:116863252-116863252 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.667G>T; p.G223*; 8:116857288-116857288 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.86A>C; p.K29T; 8:116866644-116866644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.341T>G; p.F114C; 8:116861874-116861874 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1676_1677insA; p.T560fs*14; 8:116848973-116848974 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.662G>C; p.G221A; 8:116857293-116857293 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.764T>A; p.L255*; 8:116856696-116856696 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1688T>G; p.M563R; 8:116848962-116848962 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1420C>T; p.Q474*; 8:116851998-116851998 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1420C>T; p.Q474*; 8:116851998-116851998 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.1420C>T; p.Q474*; 8:116851998-116851998 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.987_988insCCGG; p.K330fs*6; 8:116854418-116854419 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.849_850insC; p.V284fs*2; 8:116856253-116856254 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.327T>G; p.T109T; 8:116861888-116861888 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1359delG; p.E453fs*3; 8:116852059-116852059 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1022T>G; p.L341R; 8:116854384-116854384 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1022T>G; p.L341R; 8:116854384-116854384 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1493A>G; p.E498G; 8:116850745-116850745 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1022_1023insCTAA; p.S342fs*1; 8:116854383-116854384 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.997G>C; p.D333H; 8:116854409-116854409 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.348C>A; p.D116E; 8:116861867-116861867 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.348C>A; p.D116E; 8:116861867-116861867 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.681A>G; p.G227G; 8:116857274-116857274 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.877C>G; p.Q293E; 8:116856226-116856226 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.268C>T; p.R90W; 8:116863136-116863136 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.268C>T; p.R90W; 8:116863136-116863136 |
breast | carcinoma | Substitution - Missense |
c.292G>C; p.E98Q; 8:116861923-116861923 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.99_100delCG; p.F33fs*3; 8:116866630-116866631 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.598A>T; p.S200C; 8:116857357-116857357 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1421A>G; p.Q474R; 8:116851997-116851997 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1421A>G; p.Q474R; 8:116851997-116851997 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1421A>G; p.Q474R; 8:116851997-116851997 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.322_322delA; p.I108fs*17; 8:116861893-116861893 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1451A>G; p.D484G; 8:116851967-116851967 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1070C>T; p.T357I; 8:116854336-116854336 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.623A>G; p.H208R; 8:116857332-116857332 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1282G>T; p.E428*; 8:116852588-116852588 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.201T>A; p.Y67*; 8:116863203-116863203 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.874G>C; p.D292H; 8:116856229-116856229 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1859T>C; p.I620T; 8:116847537-116847537 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.907G>C; p.A303P; 8:116856196-116856196 |
skin | malignant_melanoma | Substitution - Missense |
c.697_698insT; p.I234fs*2; 8:116856762-116856763 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1005G>C; p.K335N; 8:116854401-116854401 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.639T>G; p.D213E; 8:116857316-116857316 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.9C>A; p.Y3*; 8:116866721-116866721 |
liver | carcinoma | Substitution - Nonsense |
c.9C>A; p.Y3*; 8:116866721-116866721 |
liver | carcinoma | Substitution - Nonsense |