| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 1288 |
Name | COL4A6 |
Synonymous | collagen, type IV, alpha 6;COL4A6;collagen, type IV, alpha 6 |
Definition | collagen IV, alpha-6 polypeptide|collagen alpha-6(IV) chain|collagen of basement membrane, alpha-6|dJ889N15.4 (Collagen Alpha 6(IV)) |
Position | Xq22 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1426+1G>A; p.?; 23:108190391-108190391 |
skin | malignant_melanoma | Unknown |
c.3913A>C; p.K1305Q; 23:108164934-108164934 |
thyroid | other; neoplasm | Substitution - Missense |
c.2132-1_2132GG>TT; p.?; 23:108179438-108179439 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.4213C>T; p.Q1405*; 23:108162895-108162895 |
breast | carcinoma | Substitution - Nonsense |
c.4320T>C; p.P1440P; 23:108161632-108161632 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3G>A; p.M1I; 23:108438194-108438194 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2171T>G; p.F724C; 23:108179399-108179399 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4434G>A; p.V1478V; 23:108160554-108160554 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.99_100GG>TT; p.Q33_D34>HY; 23:108310792-108310793 |
lung | carcinoma; adenocarcinoma | Complex - compound substitution |
c.838C>A; p.L280I; 23:108196576-108196576 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.410C>T; p.P137L; 23:108214143-108214143 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1450G>A; p.D484N; 23:108188654-108188654 |
skin | malignant_melanoma | Substitution - Missense |
c.1031G>T; p.G344V; 23:108193669-108193669 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4183G>T; p.D1395Y; 23:108162925-108162925 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.143G>T; p.R48I; 23:108310749-108310749 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.148C>T; p.R50*; 23:108221371-108221371 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.148C>T; p.R50*; 23:108221371-108221371 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2598C>T; p.G866G; 23:108176929-108176929 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1462C>T; p.P488S; 23:108188642-108188642 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.299G>A; p.G100D; 23:108219723-108219723 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1462C>T; p.P488S; 23:108188642-108188642 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1039G>A; p.V347I; 23:108193661-108193661 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.2395C>T; p.R799W; 23:108178804-108178804 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1692C>T; p.S564S; 23:108187923-108187923 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2842A>C; p.N948H; 23:108175204-108175204 |
skin | malignant_melanoma | Substitution - Missense |
c.3569C>A; p.P1190H; 23:108169617-108169617 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.327C>T; p.G109G; 23:108214226-108214226 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.317G>T; p.G106V; 23:108219705-108219705 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2632G>A; p.G878R; 23:108176895-108176895 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2632G>A; p.G878R; 23:108176895-108176895 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1000G>T; p.E334*; 23:108194536-108194536 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2830+1G>T; p.?; 23:108175653-108175653 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Unknown |
c.2632G>A; p.G878R; 23:108176895-108176895 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2632G>A; p.G878R; 23:108176895-108176895 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4996C>T; p.P1666S; 23:108157077-108157077 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.454C>A; p.Q152K; 23:108211728-108211728 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1405C>A; p.L469I; 23:108190413-108190413 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.3645C>T; p.I1215I; 23:108169541-108169541 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3645C>T; p.I1215I; 23:108169541-108169541 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3074G>A; p.R1025Q; 23:108174504-108174504 |
pancreas | carcinoma | Substitution - Missense |
c.2966G>A; p.G989E; 23:108174612-108174612 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2628G>C; p.L876L; 23:108176899-108176899 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2966G>A; p.G989E; 23:108174612-108174612 |
skin | malignant_melanoma | Substitution - Missense |
c.179C>T; p.T60I; 23:108221340-108221340 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2361C>T; p.H787H; 23:108178838-108178838 |
breast | carcinoma | Substitution - coding silent |
c.1636G>A; p.E546K; 23:108187979-108187979 |
skin | malignant_melanoma | Substitution - Missense |
c.1636G>A; p.E546K; 23:108187979-108187979 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4425G>A; p.S1475S; 23:108160563-108160563 |
pancreas | carcinoma | Substitution - coding silent |
c.4425G>A; p.S1475S; 23:108160563-108160563 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3157G>A; p.G1053R; 23:108172514-108172514 |
skin | malignant_melanoma | Substitution - Missense |
c.1269C>T; p.G423G; 23:108191445-108191445 |
breast | carcinoma | Substitution - coding silent |
c.3822C>A; p.P1274P; 23:108165025-108165025 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2575A>G; p.K859E; 23:108176952-108176952 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.352G>T; p.G118C; 23:108214201-108214201 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2825A>G; p.E942G; 23:108175659-108175659 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4330G>T; p.E1444*; 23:108161622-108161622 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3400G>T; p.A1134S; 23:108170702-108170702 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2219C>T; p.P740L; 23:108179351-108179351 |
skin | malignant_melanoma | Substitution - Missense |
c.4546C>A; p.P1516T; 23:108159728-108159728 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1785C>G; p.G595G; 23:108187262-108187262 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4389G>A; p.M1463I; 23:108160599-108160599 |
breast | carcinoma | Substitution - Missense |
c.2279C>T; p.P760L; 23:108179291-108179291 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3724C>T; p.P1242S; 23:108165454-108165454 |
skin | malignant_melanoma | Substitution - Missense |
c.3202G>T; p.G1068*; 23:108172469-108172469 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2956+1G>A; p.?; 23:108175089-108175089 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1221G>A; p.L407L; 23:108191493-108191493 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5020G>T; p.G1674W; 23:108157053-108157053 |
skin | malignant_melanoma | Substitution - Missense |
c.4620A>C; p.K1540N; 23:108159654-108159654 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1348C>T; p.H450Y; 23:108190470-108190470 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1348C>T; p.H450Y; 23:108190470-108190470 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.242C>A; p.P81Q; 23:108221277-108221277 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2218C>T; p.P740S; 23:108179352-108179352 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.747C>T; p.F249F; 23:108204353-108204353 |
skin | malignant_melanoma | Substitution - coding silent |
c.3971G>T; p.G1324V; 23:108164698-108164698 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1407A>T; p.L469L; 23:108190411-108190411 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.4353C>G; p.G1451G; 23:108160635-108160635 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4641C>T; p.T1547T; 23:108159633-108159633 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3434C>T; p.S1145F; 23:108170668-108170668 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1556C>T; p.S519F; 23:108188548-108188548 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1549C>T; p.R517*; 23:108188555-108188555 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.182G>A; p.G61D; 23:108221337-108221337 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4887C>A; p.A1629A; 23:108157186-108157186 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2786G>A; p.G929E; 23:108175698-108175698 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3781G>A; p.G1261R; 23:108165397-108165397 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2807G>T; p.R936L; 23:108175677-108175677 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2807G>T; p.R936L; 23:108175677-108175677 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1616G>A; p.G539E; 23:108187999-108187999 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2846C>T; p.P949L; 23:108175200-108175200 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1616G>A; p.G539E; 23:108187999-108187999 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2846C>T; p.P949L; 23:108175200-108175200 |
skin | malignant_melanoma | Substitution - Missense |
c.1452C>A; p.D484E; 23:108188652-108188652 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2318G>A; p.G773E; 23:108179252-108179252 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2709C>T; p.F903F; 23:108175775-108175775 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.424G>T; p.G142W; 23:108214129-108214129 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2059G>A; p.G687S; 23:108180587-108180587 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.609A>T; p.Q203H; 23:108206518-108206518 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1671A>G; p.G557G; 23:108187944-108187944 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2785G>A; p.G929R; 23:108175699-108175699 |
skin | malignant_melanoma | Substitution - Missense |
c.263G>A; p.G88E; 23:108221256-108221256 |
skin | malignant_melanoma | Substitution - Missense |
c.1026G>A; p.L342L; 23:108193674-108193674 |
breast | carcinoma | Substitution - coding silent |
c.1645C>A; p.L549I; 23:108187970-108187970 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1645C>A; p.L549I; 23:108187970-108187970 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2518C>T; p.H840Y; 23:108177009-108177009 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1645C>A; p.L549I; 23:108187970-108187970 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1640C>A; p.P547Q; 23:108187975-108187975 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1675C>T; p.R559W; 23:108187940-108187940 |
skin | malignant_melanoma | Substitution - Missense |
c.1675C>T; p.R559W; 23:108187940-108187940 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1675C>T; p.R559W; 23:108187940-108187940 |
skin | malignant_melanoma | Substitution - Missense |
c.1675C>T; p.R559W; 23:108187940-108187940 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3823G>A; p.A1275T; 23:108165024-108165024 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1327G>T; p.E443*; 23:108190491-108190491 |
breast | carcinoma | Substitution - Nonsense |
c.2978G>A; p.R993Q; 23:108174600-108174600 |
skin | malignant_melanoma | Substitution - Missense |
c.1560G>A; p.G520G; 23:108188544-108188544 |
skin | malignant_melanoma | Substitution - coding silent |
c.3302T>A; p.I1101K; 23:108170893-108170893 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3590G>T; p.G1197V; 23:108169596-108169596 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.66A>G; p.G22G; 23:108310826-108310826 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4030C>T; p.P1344S; 23:108164639-108164639 |
skin | malignant_melanoma | Substitution - Missense |
c.2173C>T; p.P725S; 23:108179397-108179397 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2902G>T; p.G968*; 23:108175144-108175144 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3569C>G; p.P1190R; 23:108169617-108169617 |
lung | carcinoma | Substitution - Missense |
c.3569C>G; p.P1190R; 23:108169617-108169617 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3470C>T; p.S1157F; 23:108170632-108170632 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1068C>T; p.I356I; 23:108193632-108193632 |
skin | malignant_melanoma | Substitution - coding silent |
c.1360T>G; p.S454A; 23:108190458-108190458 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1768G>T; p.G590C; 23:108187279-108187279 |
ovary | other; neoplasm | Substitution - Missense |
c.832C>A; p.P278T; 23:108202930-108202930 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.288G>C; p.M96I; 23:108219734-108219734 |
liver | carcinoma | Substitution - Missense |
c.1215A>T; p.P405P; 23:108191499-108191499 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2336G>C; p.G779A; 23:108179234-108179234 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.610-1G>T; p.?; 23:108205696-108205696 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.288G>C; p.M96I; 23:108219734-108219734 |
liver | carcinoma | Substitution - Missense |
c.2480G>T; p.G827V; 23:108178719-108178719 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2054C>A; p.T685N; 23:108180592-108180592 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.4245T>G; p.G1415G; 23:108161707-108161707 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.788C>A; p.P263Q; 23:108202974-108202974 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.827G>A; p.G276D; 23:108202935-108202935 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1544G>A; p.G515E; 23:108188560-108188560 |
skin | malignant_melanoma | Substitution - Missense |
c.2239G>A; p.G747R; 23:108179331-108179331 |
skin | malignant_melanoma | Substitution - Missense |
c.4359C>T; p.F1453F; 23:108160629-108160629 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1061C>T; p.A354V; 23:108193639-108193639 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2652G>A; p.G884G; 23:108176875-108176875 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.322C>T; p.P108S; 23:108219700-108219700 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1917A>G; p.G639G; 23:108187130-108187130 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2562A>G; p.G854G; 23:108176965-108176965 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2562A>G; p.G854G; 23:108176965-108176965 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.4359C>T; p.F1453F; 23:108160629-108160629 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.69G>T; p.E23D; 23:108310823-108310823 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.907C>T; p.P303S; 23:108195123-108195123 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.3214C>A; p.Q1072K; 23:108171450-108171450 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3674G>A; p.G1225E; 23:108169512-108169512 |
skin | malignant_melanoma | Substitution - Missense |
c.556G>A; p.G186R; 23:108206571-108206571 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3428C>T; p.P1143L; 23:108170674-108170674 |
skin | malignant_melanoma | Substitution - Missense |
c.4573T>A; p.Y1525N; 23:108159701-108159701 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.157C>A; p.P53T; 23:108221362-108221362 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.157C>A; p.P53T; 23:108221362-108221362 |
liver | carcinoma | Substitution - Missense |
c.3386G>A; p.G1129E; 23:108170716-108170716 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1764_1765insT; p.P589fs*3; 23:108187850-108187851 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.2364G>C; p.G788G; 23:108178835-108178835 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1247G>T; p.R416L; 23:108191467-108191467 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2364G>C; p.G788G; 23:108178835-108178835 |
liver | carcinoma | Substitution - coding silent |
c.460G>A; p.G154R; 23:108211722-108211722 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.3223G>A; p.E1075K; 23:108171441-108171441 |
skin | malignant_melanoma | Substitution - Missense |
c.2253C>T; p.D751D; 23:108179317-108179317 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2702T>C; p.V901A; 23:108175782-108175782 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2702T>C; p.V901A; 23:108175782-108175782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1767G>A; p.P589P; 23:108187848-108187848 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.63+1G>T; p.?; 23:108437941-108437941 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.4135G>A; p.G1379R; 23:108162973-108162973 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2646T>G; p.S882S; 23:108176881-108176881 |
skin | malignant_melanoma | Substitution - coding silent |
c.3472C>A; p.P1158T; 23:108170630-108170630 |
skin | malignant_melanoma | Substitution - Missense |
c.1570G>T; p.G524C; 23:108188534-108188534 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3578C>G; p.T1193S; 23:108169608-108169608 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1099G>T; p.G367C; 23:108192554-108192554 |
breast | carcinoma | Substitution - Missense |
c.3953G>C; p.G1318A; 23:108164894-108164894 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.303T>G; p.F101L; 23:108219719-108219719 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4526-4C>G; p.?; 23:108159752-108159752 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.2723G>A; p.G908E; 23:108175761-108175761 |
skin | malignant_melanoma | Substitution - Missense |
c.66A>T; p.G22G; 23:108310826-108310826 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2515+2T>C; p.?; 23:108178682-108178682 |
liver | carcinoma | Unknown |
c.2515+2T>C; p.?; 23:108178682-108178682 |
liver | carcinoma | Unknown |
c.614C>A; p.P205H; 23:108205691-108205691 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2777G>T; p.G926V; 23:108175707-108175707 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2216G>A; p.S739N; 23:108179354-108179354 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3748C>T; p.P1250S; 23:108165430-108165430 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4554C>T; p.F1518F; 23:108159720-108159720 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1538_1539CC>AA; p.A513E; 23:108188565-108188566 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4651C>A; p.P1551T; 23:108159623-108159623 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.354C>T; p.G118G; 23:108214199-108214199 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2669C>T; p.A890V; 23:108176858-108176858 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4101A>G; p.Q1367Q; 23:108163007-108163007 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.793C>T; p.P265S; 23:108202969-108202969 |
skin | malignant_melanoma | Substitution - Missense |
c.905G>A; p.G302D; 23:108195125-108195125 |
skin | malignant_melanoma | Substitution - Missense |
c.3653C>T; p.P1218L; 23:108169533-108169533 |
skin | malignant_melanoma | Substitution - Missense |
c.1559G>A; p.G520E; 23:108188545-108188545 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2937T>C; p.N979N; 23:108175109-108175109 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.270A>G; p.K90K; 23:108221249-108221249 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1303G>T; p.G435C; 23:108191411-108191411 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4715C>T; p.A1572V; 23:108159559-108159559 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.610G>T; p.G204C; 23:108205695-108205695 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3790G>A; p.G1264S; 23:108165388-108165388 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4610G>A; p.R1537H; 23:108159664-108159664 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1554C>T; p.G518G; 23:108188550-108188550 |
ovary | other; neoplasm | Substitution - coding silent |
c.2137C>T; p.P713S; 23:108179433-108179433 |
skin | malignant_melanoma | Substitution - Missense |
c.1930C>T; p.Q644*; 23:108187117-108187117 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1076A>G; p.N359S; 23:108192577-108192577 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1076A>G; p.N359S; 23:108192577-108192577 |
breast | carcinoma | Substitution - Missense |
c.3975G>C; p.M1325I; 23:108164694-108164694 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3975G>C; p.M1325I; 23:108164694-108164694 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3095G>T; p.G1032V; 23:108174483-108174483 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1717G>A; p.E573K; 23:108187898-108187898 |
skin | malignant_melanoma | Substitution - Missense |
c.3975G>C; p.M1325I; 23:108164694-108164694 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1339G>A; p.E447K; 23:108190479-108190479 |
skin | malignant_melanoma | Substitution - Missense |
c.1636delG; p.E546fs*25; 23:108187979-108187979 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1492C>T; p.P498S; 23:108188612-108188612 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3579C>T; p.T1193T; 23:108169607-108169607 |
breast | carcinoma | Substitution - coding silent |
c.2560G>T; p.G854*; 23:108176967-108176967 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3078C>T; p.G1026G; 23:108174500-108174500 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3078C>T; p.G1026G; 23:108174500-108174500 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2974G>A; p.G992S; 23:108174604-108174604 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; non_functioning | Substitution - Missense |
c.3427C>T; p.P1143S; 23:108170675-108170675 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.3076G>T; p.G1026C; 23:108174502-108174502 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.380G>T; p.G127V; 23:108214173-108214173 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.226G>A; p.G76R; 23:108221293-108221293 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2317G>T; p.G773*; 23:108179253-108179253 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2670C>T; p.A890A; 23:108176857-108176857 |
skin | malignant_melanoma | Substitution - coding silent |
c.1398A>C; p.K466N; 23:108190420-108190420 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1061C>A; p.A354D; 23:108193639-108193639 |
breast | carcinoma | Substitution - Missense |
c.2038C>T; p.R680*; 23:108180608-108180608 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3132A>G; p.G1044G; 23:108174446-108174446 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4100A>G; p.Q1367R; 23:108163008-108163008 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1429G>T; p.D477Y; 23:108188675-108188675 |
stomach | adenocarcinoma | Substitution - Missense |
c.3878_3879CT>TC; p.P1293L; 23:108164968-108164969 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4100A>G; p.Q1367R; 23:108163008-108163008 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2610T>C; p.N870N; 23:108176917-108176917 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.455A>G; p.Q152R; 23:108211727-108211727 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3812G>A; p.R1271H; 23:108165035-108165035 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3812G>A; p.R1271H; 23:108165035-108165035 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4781G>T; p.R1594L; 23:108159493-108159493 |
breast | carcinoma | Substitution - Missense |
c.3262G>A; p.E1088K; 23:108171402-108171402 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2876G>A; p.R959H; 23:108175170-108175170 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3203-1G>A; p.?; 23:108171462-108171462 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.3529G>A; p.G1177R; 23:108169981-108169981 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4736T>A; p.V1579E; 23:108159538-108159538 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.819C>T; p.G273G; 23:108202943-108202943 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1348C>A; p.H450N; 23:108190470-108190470 |
skin | malignant_melanoma | Substitution - Missense |
c.3646G>A; p.G1216R; 23:108169540-108169540 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3924A>C; p.Q1308H; 23:108164923-108164923 |
pancreas | carcinoma | Substitution - Missense |
c.2511C>G; p.I837M; 23:108178688-108178688 |
bone; femur | chondrosarcoma | Substitution - Missense |
c.943C>T; p.Q315*; 23:108195087-108195087 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4198G>A; p.G1400S; 23:108162910-108162910 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1241C>A; p.P414Q; 23:108191473-108191473 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.80G>A; p.G27E; 23:108310812-108310812 |
skin | malignant_melanoma | Substitution - Missense |
c.4069+1G>T; p.?; 23:108164599-108164599 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.4069+1G>T; p.?; 23:108164599-108164599 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.1215A>G; p.P405P; 23:108191499-108191499 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.3870C>T; p.T1290T; 23:108164977-108164977 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1041T>A; p.V347V; 23:108193659-108193659 |
skin | malignant_melanoma | Substitution - coding silent |
c.4766G>T; p.C1589F; 23:108159508-108159508 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3657G>T; p.G1219G; 23:108169529-108169529 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3810C>T; p.G1270G; 23:108165037-108165037 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4539C>T; p.S1513S; 23:108159735-108159735 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.316G>T; p.G106W; 23:108219706-108219706 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3990C>T; p.G1330G; 23:108164679-108164679 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3333T>G; p.G1111G; 23:108170862-108170862 |
breast | carcinoma | Substitution - coding silent |
c.4324G>T; p.G1442*; 23:108161628-108161628 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.2911G>T; p.G971C; 23:108175135-108175135 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4047G>A; p.M1349I; 23:108164622-108164622 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3389T>A; p.F1130Y; 23:108170713-108170713 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2911G>T; p.G971C; 23:108175135-108175135 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1646T>A; p.L549H; 23:108187969-108187969 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1183G>T; p.V395F; 23:108191531-108191531 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3688C>T; p.R1230*; 23:108169498-108169498 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1146C>A; p.G382G; 23:108192507-108192507 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2245A>T; p.T749S; 23:108179325-108179325 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.239T>C; p.F80S; 23:108221280-108221280 |
skin | malignant_melanoma | Substitution - Missense |
c.986G>A; p.G329E; 23:108194550-108194550 |
skin | malignant_melanoma | Substitution - Missense |
c.2377C>T; p.L793L; 23:108178822-108178822 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.707G>C; p.G236A; 23:108204393-108204393 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.687+2T>C; p.?; 23:108205437-108205437 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.5009C>T; p.T1670M; 23:108157064-108157064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3027C>T; p.I1009I; 23:108174551-108174551 |
skin | malignant_melanoma | Substitution - coding silent |
c.4379G>A; p.G1460D; 23:108160609-108160609 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1360T>C; p.S454P; 23:108190458-108190458 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4662C>T; p.P1554P; 23:108159612-108159612 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2481G>C; p.G827G; 23:108178718-108178718 |
breast | carcinoma | Substitution - coding silent |
c.1360T>C; p.S454P; 23:108190458-108190458 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3073C>A; p.R1025R; 23:108174505-108174505 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.434G>A; p.G145E; 23:108214119-108214119 |
skin | malignant_melanoma | Substitution - Missense |
c.4619A>T; p.K1540I; 23:108159655-108159655 |
skin | malignant_melanoma | Substitution - Missense |
c.4762C>T; p.Q1588*; 23:108159512-108159512 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4234G>T; p.G1412C; 23:108161718-108161718 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.310A>G; p.I104V; 23:108219712-108219712 |
liver | carcinoma | Substitution - Missense |
c.310A>G; p.I104V; 23:108219712-108219712 |
liver | carcinoma | Substitution - Missense |
c.307G>T; p.G103C; 23:108219715-108219715 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2391T>G; p.G797G; 23:108178808-108178808 |
breast | carcinoma | Substitution - coding silent |
c.4172G>A; p.G1391D; 23:108162936-108162936 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.273A>G; p.G91G; 23:108221246-108221246 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4509C>A; p.A1503A; 23:108160479-108160479 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3119C>G; p.P1040R; 23:108174459-108174459 |
thyroid | carcinoma | Substitution - Missense |
c.1753C>T; p.L585L; 23:108187862-108187862 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.5045G>A; p.R1682H; 23:108157028-108157028 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4550G>A; p.R1517H; 23:108159724-108159724 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.4159G>A; p.D1387N; 23:108162949-108162949 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.3190C>T; p.P1064S; 23:108172481-108172481 |
skin | malignant_melanoma | Substitution - Missense |
c.293T>A; p.V98D; 23:108219729-108219729 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1779A>G; p.G593G; 23:108187268-108187268 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3474delC; p.G1159fs*2; 23:108170628-108170628 |
thyroid | carcinoma; anaplastic_carcinoma | Deletion - Frameshift |
c.325G>A; p.G109S; 23:108214228-108214228 |
skin | malignant_melanoma | Substitution - Missense |
c.2308G>A; p.G770R; 23:108179262-108179262 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.467A>G; p.K156R; 23:108211715-108211715 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4934T>C; p.F1645S; 23:108157139-108157139 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.3963A>G; p.G1321G; 23:108164884-108164884 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2877T>C; p.R959R; 23:108175169-108175169 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.405A>T; p.P135P; 23:108214148-108214148 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1786T>G; p.F596V; 23:108187261-108187261 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4344G>A; p.G1448G; 23:108160644-108160644 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.3402C>A; p.A1134A; 23:108170700-108170700 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2890C>A; p.L964I; 23:108175156-108175156 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.137G>A; p.G46E; 23:108310755-108310755 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2595_2596insA; p.G866fs*77; 23:108176931-108176932 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2745T>G; p.I915M; 23:108175739-108175739 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1118G>A; p.G373E; 23:108192535-108192535 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.3871G>A; p.G1291R; 23:108164976-108164976 |
breast | carcinoma | Substitution - Missense |
c.438A>C; p.P146P; 23:108214115-108214115 |
breast | carcinoma | Substitution - coding silent |
c.4664T>C; p.V1555A; 23:108159610-108159610 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1246C>T; p.R416C; 23:108191468-108191468 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2174C>T; p.P725L; 23:108179396-108179396 |
skin | malignant_melanoma | Substitution - Missense |
c.607C>G; p.Q203E; 23:108206520-108206520 |
ovary | other; neoplasm | Substitution - Missense |
c.1246C>T; p.R416C; 23:108191468-108191468 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1246C>T; p.R416C; 23:108191468-108191468 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2537C>G; p.T846R; 23:108176990-108176990 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3181T>C; p.S1061P; 23:108172490-108172490 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.398G>T; p.G133V; 23:108214155-108214155 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1656C>T; p.I552I; 23:108187959-108187959 |
skin | malignant_melanoma | Substitution - coding silent |
c.4114G>A; p.E1372K; 23:108162994-108162994 |
prostate | carcinoma | Substitution - Missense |
c.1258_1259GG>TA; p.G420*; 23:108191455-108191456 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3624A>G; p.K1208K; 23:108169562-108169562 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1587+1G>T; p.?; 23:108188516-108188516 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.813A>G; p.I271M; 23:108202949-108202949 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3864C>T; p.G1288G; 23:108164983-108164983 |
oesophagus | carcinoma | Substitution - coding silent |
c.4440G>A; p.P1480P; 23:108160548-108160548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4424C>T; p.S1475L; 23:108160564-108160564 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3467G>A; p.G1156E; 23:108170635-108170635 |
skin | malignant_melanoma | Substitution - Missense |
c.1997G>A; p.G666E; 23:108180923-108180923 |
skin | malignant_melanoma | Substitution - Missense |
c.609A>C; p.Q203H; 23:108206518-108206518 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4027G>A; p.D1343N; 23:108164642-108164642 |
skin | malignant_melanoma | Substitution - Missense |
c.4849C>A; p.L1617M; 23:108157224-108157224 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3781G>T; p.G1261W; 23:108165397-108165397 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3133G>A; p.E1045K; 23:108174445-108174445 |
skin | malignant_melanoma | Substitution - Missense |
c.914G>A; p.G305D; 23:108195116-108195116 |
skin | malignant_melanoma | Substitution - Missense |
c.4244G>A; p.G1415D; 23:108161708-108161708 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.977G>T; p.G326V; 23:108194559-108194559 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1775G>A; p.G592D; 23:108187272-108187272 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2710G>A; p.V904I; 23:108175774-108175774 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1672G>A; p.D558N; 23:108187943-108187943 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4856C>A; p.S1619*; 23:108157217-108157217 |
breast | carcinoma | Substitution - Nonsense |
c.2131+5G>T; p.?; 23:108180510-108180510 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.249T>C; p.L83L; 23:108221270-108221270 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3007C>T; p.P1003S; 23:108174571-108174571 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.172G>A; p.G58S; 23:108221347-108221347 |
skin | malignant_melanoma | Substitution - Missense |
c.2625A>G; p.G875G; 23:108176902-108176902 |
pancreas | carcinoma | Substitution - coding silent |
c.3005C>A; p.A1002D; 23:108174573-108174573 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1375C>A; p.L459I; 23:108190443-108190443 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.91G>A; p.G31R; 23:108310801-108310801 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3484G>A; p.G1162R; 23:108170618-108170618 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2981C>A; p.P994H; 23:108174597-108174597 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3631C>T; p.P1211S; 23:108169555-108169555 |
skin | malignant_melanoma | Substitution - Missense |
c.2705G>A; p.G902E; 23:108175779-108175779 |
skin | malignant_melanoma | Substitution - Missense |
c.2777G>A; p.G926E; 23:108175707-108175707 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3067G>A; p.G1023R; 23:108174511-108174511 |
liver | carcinoma | Substitution - Missense |
c.3067G>A; p.G1023R; 23:108174511-108174511 |
liver | carcinoma | Substitution - Missense |
c.2311C>A; p.H771N; 23:108179259-108179259 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3383C>T; p.P1128L; 23:108170812-108170812 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.367G>T; p.D123Y; 23:108214186-108214186 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1789C>A; p.P597T; 23:108187258-108187258 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2596G>C; p.G866R; 23:108176931-108176931 |
breast | carcinoma | Substitution - Missense |
c.1178C>A; p.S393*; 23:108192475-108192475 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3670A>G; p.R1224G; 23:108169516-108169516 |
breast | carcinoma | Substitution - Missense |
c.2251G>T; p.D751Y; 23:108179319-108179319 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2786G>T; p.G929V; 23:108175698-108175698 |
breast | carcinoma | Substitution - Missense |
c.4921A>C; p.T1641P; 23:108157152-108157152 |
thyroid | other; neoplasm | Substitution - Missense |
c.5062A>G; p.K1688E; 23:108157011-108157011 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4921A>C; p.T1641P; 23:108157152-108157152 |
thyroid | other; neoplasm | Substitution - Missense |
c.4921A>C; p.T1641P; 23:108157152-108157152 |
skin | malignant_melanoma | Substitution - Missense |
c.3434C>A; p.S1145Y; 23:108170668-108170668 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4921A>C; p.T1641P; 23:108157152-108157152 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3854C>T; p.S1285L; 23:108164993-108164993 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |