| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 23523 |
Name | CABIN1 |
Synonymous | calcineurin binding protein 1;CABIN1;calcineurin binding protein 1 |
Definition | calcineurin binding protein cabin 1|calcineurin inhibitor|calcineurin-binding protein cabin-1 |
Position | 22q11.23 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2432C>T; p.S811F; 22:24070999-24070999 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.4273G>A; p.D1425N; 22:24113721-24113721 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.3077T>C; p.L1026P; 22:24084745-24084745 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1257G>A; p.P419P; 22:24056355-24056355 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.222C>T; p.S74S; 22:24041150-24041150 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.6309C>T; p.A2103A; 22:24177607-24177607 |
breast | carcinoma | Substitution - coding silent |
c.2195delC; p.I733fs*18; 22:24067144-24067144 |
breast | carcinoma | Deletion - Frameshift |
c.2913G>A; p.V971V; 22:24084581-24084581 |
breast | carcinoma | Substitution - coding silent |
c.656G>A; p.C219Y; 22:24049220-24049220 |
breast | carcinoma | Substitution - Missense |
c.2531C>T; p.S844L; 22:24072409-24072409 |
breast | carcinoma | Substitution - Missense |
c.21A>C; p.L7F; 22:24036106-24036106 |
breast | carcinoma | Substitution - Missense |
c.6378C>G; p.S2126S; 22:24177676-24177676 |
breast | carcinoma | Substitution - coding silent |
c.4465G>T; p.E1489*; 22:24119531-24119531 |
breast | carcinoma | Substitution - Nonsense |
c.5578C>T; p.L1860L; 22:24167209-24167209 |
breast | carcinoma | Substitution - coding silent |
c.3193C>G; p.H1065D; 22:24085081-24085081 |
breast | carcinoma | Substitution - Missense |
c.1640C>T; p.S547F; 22:24061969-24061969 |
breast | carcinoma | Substitution - Missense |
c.374A>G; p.N125S; 22:24042932-24042932 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3373G>A; p.V1125I; 22:24087561-24087561 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2247G>A; p.R749R; 22:24070814-24070814 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3673G>A; p.V1225I; 22:24091730-24091730 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3673G>A; p.V1225I; 22:24091730-24091730 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1903C>T; p.L635L; 22:24064053-24064053 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.6017C>T; p.P2006L; 22:24171972-24171972 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1187G>A; p.R396H; 22:24056285-24056285 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4044_4046delACC; p.P1349delP; 22:24098119-24098121 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - In frame |
c.4916A>G; p.Y1639C; 22:24165535-24165535 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1004_1005delTC; p.V335fs*31; 22:24055070-24055071 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.2796G>A; p.T932T; 22:24083275-24083275 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.973A>G; p.S325G; 22:24055039-24055039 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1672_1673delCT; p.L558fs*25; 22:24062001-24062002 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.2452C>T; p.R818W; 22:24071019-24071019 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1734C>T; p.G578G; 22:24062996-24062996 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.890G>T; p.R297M; 22:24054956-24054956 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1877C>T; p.A626V; 22:24063139-24063139 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1202A>C; p.K401T; 22:24056300-24056300 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.6410T>G; p.I2137S; 22:24177708-24177708 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2763G>A; p.Q921Q; 22:24083242-24083242 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1397C>A; p.S466Y; 22:24059361-24059361 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1411G>A; p.V471M; 22:24059935-24059935 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.655T>C; p.C219R; 22:24049219-24049219 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1177C>T; p.R393W; 22:24056275-24056275 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1356G>A; p.G452G; 22:24059320-24059320 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3879G>T; p.E1293D; 22:24096023-24096023 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4765G>A; p.V1589M; 22:24164418-24164418 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1480G>T; p.A494S; 22:24060004-24060004 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1237C>A; p.L413I; 22:24056335-24056335 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5735T>G; p.L1912R; 22:24168499-24168499 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1173G>T; p.K391N; 22:24056271-24056271 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4124G>A; p.S1375N; 22:24113572-24113572 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4868T>C; p.L1623P; 22:24164521-24164521 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5804G>A; p.R1935Q; 22:24171759-24171759 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2104G>A; p.A702T; 22:24067053-24067053 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1610A>G; p.H537R; 22:24060134-24060134 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2346G>T; p.E782D; 22:24070913-24070913 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5014G>T; p.E1672*; 22:24166645-24166645 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1644C>T; p.C548C; 22:24061973-24061973 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3587G>A; p.R1196H; 22:24091644-24091644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3587G>A; p.R1196H; 22:24091644-24091644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.342A>G; p.L114L; 22:24041270-24041270 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.308G>T; p.R103L; 22:24041236-24041236 |
genital_tract; extragonadal | germ_cell_tumour; mixed | Substitution - Missense |
c.758G>T; p.R253L; 22:24050926-24050926 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1069C>T; p.L357L; 22:24055135-24055135 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3349C>T; p.P1117S; 22:24087537-24087537 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1585C>T; p.L529L; 22:24060109-24060109 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2607G>C; p.Q869H; 22:24072485-24072485 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.174C>A; p.A58A; 22:24038425-24038425 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.5782C>A; p.P1928T; 22:24171737-24171737 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.94C>G; p.Q32E; 22:24036179-24036179 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.359A>G; p.D120G; 22:24042917-24042917 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.5575C>A; p.L1859I; 22:24167206-24167206 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3315C>A; p.D1105E; 22:24087503-24087503 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2006T>C; p.L669P; 22:24064156-24064156 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.226G>A; p.D76N; 22:24041154-24041154 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2182G>C; p.E728Q; 22:24067131-24067131 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.746C>T; p.A249V; 22:24050914-24050914 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1572C>A; p.S524R; 22:24060096-24060096 |
kidney | other; neoplasm | Substitution - Missense |
c.4665C>A; p.G1555G; 22:24134334-24134334 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.669T>C; p.I223I; 22:24050837-24050837 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2918T>G; p.L973R; 22:24084586-24084586 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2918T>G; p.L973R; 22:24084586-24084586 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.2918T>G; p.L973R; 22:24084586-24084586 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4784C>T; p.P1595L; 22:24164437-24164437 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4784C>T; p.P1595L; 22:24164437-24164437 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3167A>G; p.E1056G; 22:24085055-24085055 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5803C>T; p.R1935*; 22:24171758-24171758 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2912T>C; p.V971A; 22:24084580-24084580 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2912T>C; p.V971A; 22:24084580-24084580 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2912T>C; p.V971A; 22:24084580-24084580 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.2912T>C; p.V971A; 22:24084580-24084580 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5639G>A; p.R1880H; 22:24167270-24167270 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1994G>A; p.R665Q; 22:24064144-24064144 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1868G>A; p.R623H; 22:24063130-24063130 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5992C>T; p.R1998W; 22:24171947-24171947 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5696C>A; p.A1899D; 22:24168460-24168460 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.6404T>C; p.L2135P; 22:24177702-24177702 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6537C>A; p.A2179A; 22:24178070-24178070 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5819C>A; p.P1940H; 22:24171774-24171774 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5502C>T; p.G1834G; 22:24167133-24167133 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1177C>T; p.R393W; 22:24056275-24056275 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5125delC; p.P1710fs*93; 22:24166756-24166756 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4116C>T; p.D1372D; 22:24098191-24098191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4565G>A; p.R1522H; 22:24119631-24119631 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1540G>A; p.V514I; 22:24060064-24060064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3798G>A; p.R1266R; 22:24095942-24095942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.771G>A; p.P257P; 22:24050939-24050939 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6627C>T; p.S2209S; 22:24178160-24178160 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3988C>T; p.L1330L; 22:24098063-24098063 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1993C>T; p.R665W; 22:24064143-24064143 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2295C>T; p.N765N; 22:24070862-24070862 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4921C>T; p.R1641*; 22:24165540-24165540 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3529G>C; p.E1177Q; 22:24091586-24091586 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.461A>T; p.N154I; 22:24043019-24043019 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2558G>A; p.R853Q; 22:24072436-24072436 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5745C>T; p.A1915A; 22:24168509-24168509 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4662A>G; p.L1554L; 22:24134331-24134331 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5239C>T; p.R1747W; 22:24166870-24166870 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.6083C>T; p.P2028L; 22:24176153-24176153 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3683T>C; p.L1228P; 22:24091740-24091740 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2036A>C; p.E679A; 22:24064186-24064186 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4946C>T; p.A1649V; 22:24165565-24165565 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4078G>A; p.V1360I; 22:24098153-24098153 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4663G>T; p.G1555C; 22:24134332-24134332 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3411C>T; p.S1137S; 22:24087599-24087599 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.666G>A; p.S222S; 22:24050834-24050834 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.666G>A; p.S222S; 22:24050834-24050834 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5260C>T; p.R1754W; 22:24166891-24166891 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2689G>A; p.E897K; 22:24076225-24076225 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2689G>A; p.E897K; 22:24076225-24076225 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.631G>A; p.D211N; 22:24049195-24049195 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1115A>C; p.K372T; 22:24056213-24056213 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.25G>A; p.A9T; 22:24036110-24036110 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6065C>T; p.A2022V; 22:24176135-24176135 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>A; p.R244Q; 22:24050899-24050899 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5017C>T; p.R1673C; 22:24166648-24166648 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4650C>T; p.R1550R; 22:24134319-24134319 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2426T>C; p.V809A; 22:24070993-24070993 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5837C>T; p.T1946I; 22:24171792-24171792 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6198C>T; p.C2066C; 22:24176268-24176268 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5026C>T; p.P1676S; 22:24166657-24166657 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3835G>A; p.D1279N; 22:24095979-24095979 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3369G>A; p.T1123T; 22:24087557-24087557 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6432delC; p.P2146fs*27; 22:24177730-24177730 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.5055G>A; p.R1685R; 22:24166686-24166686 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13G>A; p.A5T; 22:24036098-24036098 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5605C>T; p.Q1869*; 22:24167236-24167236 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2795C>T; p.T932M; 22:24083274-24083274 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1912T>C; p.Y638H; 22:24064062-24064062 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3580G>A; p.A1194T; 22:24091637-24091637 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3580G>A; p.A1194T; 22:24091637-24091637 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1523C>T; p.A508V; 22:24060047-24060047 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4391C>T; p.A1464V; 22:24119457-24119457 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3102G>T; p.E1034D; 22:24084770-24084770 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1525G>A; p.E509K; 22:24060049-24060049 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4243C>A; p.L1415I; 22:24113691-24113691 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1213G>T; p.E405*; 22:24056311-24056311 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4095C>A; p.P1365P; 22:24098170-24098170 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5796A>C; p.K1932N; 22:24171751-24171751 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5408G>A; p.S1803N; 22:24167039-24167039 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2933C>T; p.A978V; 22:24084601-24084601 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4167G>A; p.T1389T; 22:24113615-24113615 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4092_4093insC; p.H1366fs*22; 22:24098167-24098168 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.6650A>G; p.Y2217C; 22:24178183-24178183 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1442A>G; p.N481S; 22:24059966-24059966 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1232A>T; p.Q411L; 22:24056330-24056330 |
liver | carcinoma | Substitution - Missense |
c.4263G>A; p.A1421A; 22:24113711-24113711 |
liver | carcinoma | Substitution - coding silent |
c.4263G>A; p.A1421A; 22:24113711-24113711 |
liver | carcinoma | Substitution - coding silent |
c.1531G>C; p.V511L; 22:24060055-24060055 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1768C>G; p.L590V; 22:24063030-24063030 |
liver | carcinoma | Substitution - Missense |
c.1768C>G; p.L590V; 22:24063030-24063030 |
liver | carcinoma | Substitution - Missense |
c.1399+7A>T; p.?; 22:24059370-24059370 |
liver | carcinoma | Unknown |
c.1399+7A>T; p.?; 22:24059370-24059370 |
liver | carcinoma | Unknown |
c.1418A>T; p.E473V; 22:24059942-24059942 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1418A>T; p.E473V; 22:24059942-24059942 |
liver | carcinoma | Substitution - Missense |
c.3618G>T; p.W1206C; 22:24091675-24091675 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4265C>T; p.T1422M; 22:24113713-24113713 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4959C>T; p.F1653F; 22:24165578-24165578 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.181G>C; p.E61Q; 22:24038432-24038432 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4702G>A; p.A1568T; 22:24134371-24134371 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6259A>G; p.S2087G; 22:24177557-24177557 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1876G>T; p.A626S; 22:24063138-24063138 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2595G>T; p.L865L; 22:24072473-24072473 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6634G>C; p.D2212H; 22:24178167-24178167 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.179A>G; p.H60R; 22:24038430-24038430 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3221C>T; p.A1074V; 22:24085109-24085109 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4453G>A; p.D1485N; 22:24119519-24119519 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2253G>T; p.K751N; 22:24070820-24070820 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3464C>G; p.S1155*; 22:24087652-24087652 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.157G>C; p.E53Q; 22:24038408-24038408 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.455G>A; p.R152Q; 22:24043013-24043013 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.37A>G; p.I13V; 22:24036122-24036122 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6617C>T; p.S2206L; 22:24178150-24178150 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.206G>A; p.R69Q; 22:24038457-24038457 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4230G>A; p.K1410K; 22:24113678-24113678 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.966C>A; p.I322I; 22:24055032-24055032 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3296_3297GG>CT; p.R1099P; 22:24087484-24087485 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.5362C>T; p.R1788W; 22:24166993-24166993 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6264G>A; p.E2088E; 22:24177562-24177562 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3744C>A; p.I1248I; 22:24091801-24091801 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.6452C>T; p.T2151M; 22:24177750-24177750 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.6622G>A; p.E2208K; 22:24178155-24178155 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4504G>A; p.E1502K; 22:24119570-24119570 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3486G>C; p.K1162N; 22:24087674-24087674 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.102A>G; p.A34A; 22:24038353-24038353 |
oesophagus | carcinoma | Substitution - coding silent |
c.4837C>T; p.L1613L; 22:24164490-24164490 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4910A>G; p.K1637R; 22:24164563-24164563 |
oesophagus | carcinoma | Substitution - Missense |
c.5842C>T; p.P1948S; 22:24171797-24171797 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1501G>T; p.V501L; 22:24060025-24060025 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5517G>A; p.P1839P; 22:24167148-24167148 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4649G>A; p.R1550H; 22:24134318-24134318 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.6521C>T; p.S2174L; 22:24178054-24178054 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3843G>A; p.G1281G; 22:24095987-24095987 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.4565G>A; p.R1522H; 22:24119631-24119631 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.5417C>A; p.A1806D; 22:24167048-24167048 |
ovary | other; neoplasm | Substitution - Missense |
c.3902G>A; p.R1301K; 22:24096046-24096046 |
ovary | other; neoplasm | Substitution - Missense |
c.3902G>A; p.R1301K; 22:24096046-24096046 |
ovary | other; neoplasm | Substitution - Missense |
c.3308delT; p.Q1104fs*4; 22:24087496-24087496 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.2712G>T; p.W904C; 22:24076248-24076248 |
pancreas | carcinoma | Substitution - Missense |
c.2711G>T; p.W904L; 22:24076247-24076247 |
pancreas | carcinoma | Substitution - Missense |
c.3537_3538delGC; p.D1181fs*19; 22:24091594-24091595 |
pancreas | carcinoid-endocrine_tumour; islet_cell | Deletion - Frameshift |
c.228T>A; p.D76E; 22:24041156-24041156 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.228T>A; p.D76E; 22:24041156-24041156 |
pancreas | carcinoma | Substitution - Missense |
c.751A>G; p.I251V; 22:24050919-24050919 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1118C>G; p.S373C; 22:24056216-24056216 |
pancreas | carcinoma | Substitution - Missense |
c.1118C>G; p.S373C; 22:24056216-24056216 |
pancreas | carcinoma | Substitution - Missense |
c.4180A>T; p.N1394Y; 22:24113628-24113628 |
pancreas | carcinoma | Substitution - Missense |
c.5764G>T; p.G1922W; 22:24171719-24171719 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.5499G>C; p.G1833G; 22:24167130-24167130 |
pleura | pulmonary_blastoma | Substitution - coding silent |
c.2280C>A; p.S760S; 22:24070847-24070847 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.471C>A; p.H157Q; 22:24043029-24043029 |
prostate | adenoma | Substitution - Missense |
c.3907G>A; p.E1303K; 22:24096051-24096051 |
prostate | adenoma | Substitution - Missense |
c.2453G>A; p.R818Q; 22:24071020-24071020 |
prostate | carcinoma | Substitution - Missense |
c.6379C>A; p.R2127S; 22:24177677-24177677 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1905G>A; p.L635L; 22:24064055-24064055 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.404T>C; p.L135P; 22:24042962-24042962 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4478T>C; p.F1493S; 22:24119544-24119544 |
skin | malignant_melanoma | Substitution - Missense |
c.967C>T; p.Q323*; 22:24055033-24055033 |
skin | malignant_melanoma | Substitution - Nonsense |
c.5938C>T; p.P1980S; 22:24171893-24171893 |
skin | malignant_melanoma | Substitution - Missense |
c.4539C>T; p.I1513I; 22:24119605-24119605 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1193G>A; p.R398Q; 22:24056291-24056291 |
skin | malignant_melanoma | Substitution - Missense |
c.4877C>T; p.S1626F; 22:24164530-24164530 |
skin | malignant_melanoma | Substitution - Missense |
c.6602C>T; p.S2201F; 22:24178135-24178135 |
skin | malignant_melanoma | Substitution - Missense |
c.3726C>T; p.A1242A; 22:24091783-24091783 |
skin | malignant_melanoma | Substitution - coding silent |
c.1422C>T; p.F474F; 22:24059946-24059946 |
skin | malignant_melanoma | Substitution - coding silent |
c.678T>A; p.V226V; 22:24050846-24050846 |
skin | malignant_melanoma | Substitution - coding silent |
c.2260C>T; p.R754W; 22:24070827-24070827 |
skin | malignant_melanoma | Substitution - Missense |
c.1732G>A; p.G578S; 22:24062994-24062994 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5547C>T; p.L1849L; 22:24167178-24167178 |
skin | malignant_melanoma | Substitution - coding silent |
c.3387C>T; p.F1129F; 22:24087575-24087575 |
skin | malignant_melanoma | Substitution - coding silent |
c.1567A>G; p.T523A; 22:24060091-24060091 |
skin | malignant_melanoma | Substitution - Missense |
c.5129C>T; p.P1710L; 22:24166760-24166760 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4733C>T; p.T1578I; 22:24134402-24134402 |
skin | malignant_melanoma | Substitution - Missense |
c.3423C>T; p.S1141S; 22:24087611-24087611 |
skin | malignant_melanoma | Substitution - coding silent |
c.1052C>A; p.P351Q; 22:24055118-24055118 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.656+2T>G; p.?; 22:24049222-24049222 |
skin | malignant_melanoma | Unknown |
c.4040C>T; p.S1347F; 22:24098115-24098115 |
skin | malignant_melanoma | Substitution - Missense |
c.2203G>T; p.E735*; 22:24067152-24067152 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3442A>G; p.T1148A; 22:24087630-24087630 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2999C>T; p.T1000I; 22:24084667-24084667 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.87G>A; p.K29K; 22:24036172-24036172 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.622C>T; p.L208F; 22:24049186-24049186 |
skin; sole | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.2971C>T; p.P991S; 22:24084639-24084639 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6287C>A; p.P2096Q; 22:24177585-24177585 |
skin | malignant_melanoma | Substitution - Missense |
c.640A>G; p.R214G; 22:24049204-24049204 |
skin | malignant_melanoma | Substitution - Missense |
c.2066G>A; p.R689Q; 22:24067015-24067015 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.346G>C; p.A116P; 22:24042904-24042904 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2656C>T; p.P886S; 22:24076192-24076192 |
skin | malignant_melanoma | Substitution - Missense |
c.6306G>T; p.K2102N; 22:24177604-24177604 |
skin | malignant_melanoma | Substitution - Missense |
c.1845C>T; p.V615V; 22:24063107-24063107 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4012_4013CC>TT; p.P1338F; 22:24098087-24098088 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6516G>A; p.L2172L; 22:24177814-24177814 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.420C>T; p.I140I; 22:24042978-24042978 |
skin | malignant_melanoma | Substitution - coding silent |
c.625C>T; p.R209W; 22:24049189-24049189 |
skin | malignant_melanoma | Substitution - Missense |
c.5676C>T; p.I1892I; 22:24167307-24167307 |
skin | malignant_melanoma | Substitution - coding silent |
c.5448C>T; p.A1816A; 22:24167079-24167079 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.152G>A; p.R51Q; 22:24038403-24038403 |
skin | malignant_melanoma | Substitution - Missense |
c.5001C>T; p.L1667L; 22:24165620-24165620 |
skin | malignant_melanoma | Substitution - coding silent |
c.1420T>C; p.F474L; 22:24059944-24059944 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1640C>T; p.S547F; 22:24061969-24061969 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5899C>T; p.R1967C; 22:24171854-24171854 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.4094C>T; p.P1365L; 22:24098169-24098169 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.581G>A; p.G194E; 22:24049145-24049145 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.6312C>T; p.P2104P; 22:24177610-24177610 |
skin | malignant_melanoma | Substitution - coding silent |
c.4675C>T; p.P1559S; 22:24134344-24134344 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1746T>C; p.P582P; 22:24063008-24063008 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4819G>A; p.V1607M; 22:24164472-24164472 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6627C>T; p.S2209S; 22:24178160-24178160 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3662A>C; p.Q1221P; 22:24091719-24091719 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4512G>A; p.Q1504Q; 22:24119578-24119578 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3538C>T; p.R1180C; 22:24091595-24091595 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2495C>T; p.A832V; 22:24072373-24072373 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2624C>T; p.A875V; 22:24072502-24072502 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2092C>G; p.R698G; 22:24067041-24067041 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4676C>T; p.P1559L; 22:24134345-24134345 |
stomach | adenocarcinoma | Substitution - Missense |
c.6227C>T; p.P2076L; 22:24177525-24177525 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4770C>T; p.D1590D; 22:24164423-24164423 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3134A>G; p.E1045G; 22:24085022-24085022 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6273C>A; p.P2091P; 22:24177571-24177571 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5804G>A; p.R1935Q; 22:24171759-24171759 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3348G>A; p.G1116G; 22:24087536-24087536 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.477C>A; p.P159P; 22:24043035-24043035 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5591A>G; p.Y1864C; 22:24167222-24167222 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1584G>A; p.P528P; 22:24060108-24060108 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2645C>T; p.T882M; 22:24076181-24076181 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2645C>T; p.T882M; 22:24076181-24076181 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6137C>T; p.P2046L; 22:24176207-24176207 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1469G>A; p.R490H; 22:24059993-24059993 |
stomach | adenocarcinoma | Substitution - Missense |
c.2160G>T; p.G720G; 22:24067109-24067109 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2643G>A; p.E881E; 22:24076179-24076179 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4653C>T; p.D1551D; 22:24134322-24134322 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4805T>C; p.M1602T; 22:24164458-24164458 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5745C>T; p.A1915A; 22:24168509-24168509 |
thyroid | other; neoplasm | Substitution - coding silent |
c.569G>A; p.R190Q; 22:24049133-24049133 |
thyroid | carcinoma | Substitution - Missense |
c.511C>G; p.L171V; 22:24043069-24043069 |
thyroid | other; neoplasm | Substitution - Missense |
c.891G>C; p.R297S; 22:24054957-24054957 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.891G>C; p.R297S; 22:24054957-24054957 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4098C>A; p.H1366Q; 22:24098173-24098173 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4098C>A; p.H1366Q; 22:24098173-24098173 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.3886G>A; p.E1296K; 22:24096030-24096030 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4629C>A; p.H1543Q; 22:24119695-24119695 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1093G>A; p.G365S; 22:24055159-24055159 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2224C>G; p.L742V; 22:24067173-24067173 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.405G>T; p.L135L; 22:24042963-24042963 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.436G>A; p.A146T; 22:24042994-24042994 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4505A>G; p.E1502G; 22:24119571-24119571 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1553G>A; p.W518*; 22:24060077-24060077 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.5671C>T; p.L1891F; 22:24167302-24167302 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.5671C>T; p.L1891F; 22:24167302-24167302 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6247C>G; p.Q2083E; 22:24177545-24177545 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.6247C>G; p.Q2083E; 22:24177545-24177545 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.6216G>A; p.L2072L; 22:24177514-24177514 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.344A>G; p.E115G; 22:24041272-24041272 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.344A>G; p.E115G; 22:24041272-24041272 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1004T>G; p.V335G; 22:24055070-24055070 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4183G>A; p.E1395K; 22:24113631-24113631 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4183G>A; p.E1395K; 22:24113631-24113631 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2755G>A; p.V919I; 22:24083234-24083234 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2526C>T; p.V842V; 22:24072404-24072404 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2667C>A; p.L889L; 22:24076203-24076203 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1554G>T; p.W518C; 22:24060078-24060078 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2126T>G; p.V709G; 22:24067075-24067075 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2126T>G; p.V709G; 22:24067075-24067075 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4033C>T; p.L1345L; 22:24098108-24098108 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |