| Gene ID | 3978 |
| Symbol | LIG1 |
| Synonymous | - |
| Full name | ligase I, DNA, ATP-dependent |
| Gene description | DNA ligase 1|polydeoxyribonucleotide synthase [ATP] 1 |
| Cytoband | 19q13.2-q13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:126391; HGNC:HGNC:6598; Ensembl:ENSG00000105486; HPRD:00534; Vega:OTTHUMG00000183187 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1906C>A; p.Q636K; 19:48127936-48127936 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1228G>A; p.D410N; 19:48137548-48137548 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1251T>C; p.S417S; 19:48137525-48137525 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1796C>T; p.P599L; 19:48131101-48131101 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2456G>T; p.S819I; 19:48117765-48117765 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1834T>C; p.S612P; 19:48128008-48128008 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.540G>A; p.Q180Q; 19:48151266-48151266 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1711_1712GG>TT; p.G571L; 19:48132995-48132996 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.454A>G; p.K152E; 19:48153884-48153884 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1961A>T; p.Q654L; 19:48127320-48127320 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.2219A>G; p.H740R; 19:48122947-48122947 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.362G>A; p.R121H; 19:48157022-48157022 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1961A>T; p.Q654L; 19:48127320-48127320 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.778C>T; p.P260S; 19:48143962-48143962 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1921C>G; p.R641G; 19:48127921-48127921 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1120G>A; p.A374T; 19:48137656-48137656 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2629C>T; p.R877*; 19:48115920-48115920 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2629C>T; p.R877*; 19:48115920-48115920 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2290G>A; p.A764T; 19:48121265-48121265 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2346C>A; p.S782S; 19:48121209-48121209 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.953C>T; p.S318F; 19:48140105-48140105 |
skin | malignant_melanoma | Substitution - Missense |
c.662C>T; p.P221L; 19:48150123-48150123 |
skin | malignant_melanoma | Substitution - Missense |
c.1005C>G; p.L335L; 19:48140053-48140053 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - coding silent |
c.2076G>T; p.E692D; 19:48123247-48123247 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1861G>A; p.E621K; 19:48127981-48127981 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1877A>G; p.D626G; 19:48127965-48127965 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.52A>G; p.K18E; 19:48162317-48162317 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.2382C>T; p.C794C; 19:48121173-48121173 |
salivary_gland; tongue | carcinoma; adenoid_cystic_carcinoma | Substitution - coding silent |
c.2651C>T; p.P884L; 19:48115898-48115898 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2271G>A; p.L757L; 19:48121284-48121284 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2122G>A; p.A708T; 19:48123201-48123201 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.154C>T; p.P52S; 19:48161461-48161461 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1969T>G; p.L657V; 19:48127312-48127312 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1969T>G; p.L657V; 19:48127312-48127312 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2446G>A; p.V816M; 19:48117775-48117775 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1980C>T; p.F660F; 19:48127301-48127301 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1424A>T; p.E475V; 19:48135779-48135779 |
skin | malignant_melanoma | Substitution - Missense |
c.999C>T; p.L333L; 19:48140059-48140059 |
breast | carcinoma | Substitution - coding silent |
c.1959G>T; p.V653V; 19:48127322-48127322 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2562C>G; p.I854M; 19:48117659-48117659 |
breast | carcinoma | Substitution - Missense |
c.1114G>A; p.E372K; 19:48137662-48137662 |
skin | malignant_melanoma | Substitution - Missense |
c.582G>T; p.E194D; 19:48150203-48150203 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.370+3G>C; p.?; 19:48157011-48157011 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.2045T>C; p.L682P; 19:48123278-48123278 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.968C>T; p.S323L; 19:48140090-48140090 |
skin | malignant_melanoma | Substitution - Missense |
c.2304G>T; p.R768R; 19:48121251-48121251 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.108G>A; p.K36K; 19:48161507-48161507 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1227C>T; p.R409R; 19:48137549-48137549 |
pancreas | carcinoma | Substitution - coding silent |
c.1227C>T; p.R409R; 19:48137549-48137549 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.698-1G>T; p.?; 19:48149842-48149842 |
lung | carcinoma; adenocarcinoma | Unknown |
c.548C>T; p.T183M; 19:48151258-48151258 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2406T>C; p.D802D; 19:48119170-48119170 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2406T>C; p.D802D; 19:48119170-48119170 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.2364G>A; p.E788E; 19:48121191-48121191 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2029_2030insC; p.R677fs*54; 19:48123293-48123294 |
lung | carcinoma; non_small_cell_carcinoma | Insertion - Frameshift |
c.508G>A; p.A170T; 19:48151298-48151298 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1482G>A; p.T494T; 19:48135721-48135721 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.681G>C; p.T227T; 19:48150104-48150104 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2620C>T; p.R874W; 19:48115929-48115929 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.357G>A; p.P119P; 19:48157027-48157027 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11G>A; p.S4N; 19:48165556-48165556 |
breast | carcinoma | Substitution - Missense |
c.409C>T; p.L137L; 19:48153929-48153929 |
skin | malignant_melanoma | Substitution - coding silent |
c.1471G>A; p.A491T; 19:48135732-48135732 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2325C>T; p.Y775Y; 19:48121230-48121230 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.703delC; p.R235fs*9; 19:48149836-48149836 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.392G>A; p.R131Q; 19:48153946-48153946 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2199C>T; p.Y733Y; 19:48122967-48122967 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1205C>T; p.S402F; 19:48137571-48137571 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2523G>A; p.V841V; 19:48117698-48117698 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1490A>G; p.E497G; 19:48135713-48135713 |
thyroid | other; neoplasm | Substitution - Missense |
c.1711G>A; p.G571R; 19:48132996-48132996 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.421A>G; p.S141G; 19:48153917-48153917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2352C>T; p.D784D; 19:48121203-48121203 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2518G>T; p.A840S; 19:48117703-48117703 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2636G>C; p.R879P; 19:48115913-48115913 |
skin | malignant_melanoma | Substitution - Missense |
c.687C>T; p.S229S; 19:48150098-48150098 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1252G>A; p.A418T; 19:48137524-48137524 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.455A>G; p.K152R; 19:48153883-48153883 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.455A>G; p.K152R; 19:48153883-48153883 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.455A>G; p.K152R; 19:48153883-48153883 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.455A>G; p.K152R; 19:48153883-48153883 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.455A>G; p.K152R; 19:48153883-48153883 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.455A>G; p.K152R; 19:48153883-48153883 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2279T>C; p.V760A; 19:48121276-48121276 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2190T>C; p.D730D; 19:48122976-48122976 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.455A>G; p.K152R; 19:48153883-48153883 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.455A>G; p.K152R; 19:48153883-48153883 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.455A>G; p.K152R; 19:48153883-48153883 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.455A>G; p.K152R; 19:48153883-48153883 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2547C>T; p.L849L; 19:48117674-48117674 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1184C>A; p.P395Q; 19:48137592-48137592 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1261G>T; p.A421S; 19:48137078-48137078 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.576A>C; p.K192N; 19:48150209-48150209 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.504A>C; p.E168D; 19:48151302-48151302 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2112C>T; p.I704I; 19:48123211-48123211 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1936G>T; p.V646L; 19:48127345-48127345 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.377A>C; p.K126T; 19:48153961-48153961 |
skin | malignant_melanoma | Substitution - Missense |
c.2600G>A; p.G867D; 19:48115949-48115949 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2600G>A; p.G867D; 19:48115949-48115949 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1669C>T; p.R557C; 19:48133038-48133038 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1479G>A; p.K493K; 19:48135724-48135724 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.990C>A; p.V330V; 19:48140068-48140068 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.436A>T; p.R146*; 19:48153902-48153902 |
kidney | other; neoplasm | Substitution - Nonsense |
c.246G>T; p.K82N; 19:48157138-48157138 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2206G>A; p.A736T; 19:48122960-48122960 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1242C>T; p.L414L; 19:48137534-48137534 |
breast | carcinoma | Substitution - coding silent |
c.1310C>G; p.S437*; 19:48137029-48137029 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2206G>A; p.A736T; 19:48122960-48122960 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1812C>T; p.R604R; 19:48131085-48131085 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1848C>T; p.F616F; 19:48127994-48127994 |
breast | carcinoma | Substitution - coding silent |
c.478C>G; p.P160A; 19:48151328-48151328 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1761C>T; p.F587F; 19:48131136-48131136 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.179C>T; p.A60V; 19:48161436-48161436 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1149C>T; p.A383A; 19:48137627-48137627 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1149C>T; p.A383A; 19:48137627-48137627 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1149C>T; p.A383A; 19:48137627-48137627 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1149C>T; p.A383A; 19:48137627-48137627 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.897C>A; p.I299I; 19:48143560-48143560 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1149C>T; p.A383A; 19:48137627-48137627 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1254+2_1254+9delTGAGTGGG; p.?; 19:48137513-48137520 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.457G>A; p.E153K; 19:48153881-48153881 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.969G>A; p.S323S; 19:48140089-48140089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1670G>A; p.R557H; 19:48133037-48133037 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.514G>C; p.E172Q; 19:48151292-48151292 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1237A>T; p.R413W; 19:48137539-48137539 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.488G>A; p.S163N; 19:48151318-48151318 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2517C>T; p.S839S; 19:48117704-48117704 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1168C>T; p.Q390*; 19:48137608-48137608 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2330G>A; p.G777D; 19:48121225-48121225 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.717C>G; p.V239V; 19:48149822-48149822 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1502T>C; p.M501T; 19:48135701-48135701 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1887G>T; p.K629N; 19:48127955-48127955 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.681G>A; p.T227T; 19:48150104-48150104 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1743C>T; p.G581G; 19:48131154-48131154 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1342G>A; p.G448R; 19:48136115-48136115 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2353G>A; p.E785K; 19:48121202-48121202 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.880C>T; p.R294W; 19:48143577-48143577 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.904G>A; p.V302M; 19:48143553-48143553 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.619A>T; p.T207S; 19:48150166-48150166 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1836G>A; p.S612S; 19:48128006-48128006 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.319G>A; p.D107N; 19:48157065-48157065 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.729G>A; p.V243V; 19:48149810-48149810 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.165G>T; p.R55S; 19:48161450-48161450 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.520G>A; p.E174K; 19:48151286-48151286 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1835C>T; p.S612L; 19:48128007-48128007 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1835C>T; p.S612L; 19:48128007-48128007 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2073C>T; p.G691G; 19:48123250-48123250 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1110G>T; p.R370R; 19:48137666-48137666 |
breast | carcinoma | Substitution - coding silent |
c.1104C>T; p.S368S; 19:48137672-48137672 |
skin | malignant_melanoma | Substitution - coding silent |
c.1045G>A; p.V349M; 19:48140013-48140013 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1045G>A; p.V349M; 19:48140013-48140013 |
pancreas | carcinoma | Substitution - Missense |
c.394A>G; p.T132A; 19:48153944-48153944 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.664C>T; p.R222C; 19:48150121-48150121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2464C>T; p.P822S; 19:48117757-48117757 |
skin | malignant_melanoma | Substitution - Missense |
c.279C>T; p.P93P; 19:48157105-48157105 |
skin | malignant_melanoma | Substitution - coding silent |
c.155C>T; p.P52L; 19:48161460-48161460 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.751C>G; p.P251A; 19:48149788-48149788 |
breast | carcinoma | Substitution - Missense |
c.1836G>T; p.S612S; 19:48128006-48128006 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.276G>A; p.P92P; 19:48157108-48157108 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1880G>A; p.R627Q; 19:48127962-48127962 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2376C>A; p.A792A; 19:48121179-48121179 |
breast | carcinoma | Substitution - coding silent |
c.374G>T; p.R125L; 19:48153964-48153964 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2345C>T; p.S782F; 19:48121210-48121210 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.901G>A; p.E301K; 19:48143556-48143556 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1911G>A; p.V637V; 19:48127931-48127931 |
skin | malignant_melanoma | Substitution - coding silent |
c.779C>T; p.P260L; 19:48143961-48143961 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1755G>T; p.K585N; 19:48131142-48131142 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2052G>T; p.E684D; 19:48123271-48123271 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1695C>G; p.C565W; 19:48133012-48133012 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.549G>A; p.T183T; 19:48151257-48151257 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.524G>A; p.G175E; 19:48151282-48151282 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.661C>T; p.P221S; 19:48150124-48150124 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1731C>T; p.H577H; 19:48131166-48131166 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1045G>C; p.V349L; 19:48140013-48140013 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.920G>A; p.R307Q; 19:48140138-48140138 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1731C>T; p.H577H; 19:48131166-48131166 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.588G>C; p.P196P; 19:48150197-48150197 |
liver | carcinoma | Substitution - coding silent |
c.588G>C; p.P196P; 19:48150197-48150197 |
liver | carcinoma | Substitution - coding silent |
c.1065C>G; p.L355L; 19:48139993-48139993 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.476C>A; p.T159N; 19:48151330-48151330 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.304A>C; p.N102H; 19:48157080-48157080 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.184C>A; p.R62R; 19:48161431-48161431 |
skin | malignant_melanoma | Substitution - coding silent |
c.1019C>T; p.P340L; 19:48140039-48140039 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1121C>T; p.A374V; 19:48137655-48137655 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.88G>T; p.E30*; 19:48162281-48162281 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2575C>T; p.R859W; 19:48117646-48117646 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.2191G>A; p.A731T; 19:48122975-48122975 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.692T>G; p.F231C; 19:48150093-48150093 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.78T>C; p.N26N; 19:48162291-48162291 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.139T>A; p.S47T; 19:48161476-48161476 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |