| Gene ID | 1287 |
| Symbol | COL4A5 |
| Synonymous | ASLN|ATS|CA54 |
| Full name | collagen, type IV, alpha 5 |
| Gene description | collagen IV, alpha-5 polypeptide|collagen alpha-5(IV) chain|collagen of basement membrane, alpha-5 chain|collagen type IV alpha 5|dA149D17.3|dA24A23.1 |
| Cytoband | Xq22 |
| Gene type | protein-coding |
| Synonymous | MIM:303630; HGNC:HGNC:2207; Ensembl:ENSG00000188153; HPRD:02363; Vega:OTTHUMG00000022182 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2597G>T; p.G866V; 23:108620346-108620346 |
skin | malignant_melanoma | Substitution - Missense |
c.5021G>A; p.R1674Q; 23:108696341-108696341 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.5021G>A; p.R1674Q; 23:108696341-108696341 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2353C>T; p.P785S; 23:108606850-108606850 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5021G>A; p.R1674Q; 23:108696341-108696341 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1959G>A; p.G653G; 23:108601403-108601403 |
skin | malignant_melanoma | Substitution - coding silent |
c.3530C>A; p.P1177Q; 23:108666571-108666571 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3242C>T; p.P1081L; 23:108626345-108626345 |
liver | carcinoma | Substitution - Missense |
c.3277A>T; p.N1093Y; 23:108655361-108655361 |
pancreas | carcinoma | Substitution - Missense |
c.3242C>T; p.P1081L; 23:108626345-108626345 |
liver | carcinoma | Substitution - Missense |
c.3358C>T; p.L1120F; 23:108655442-108655442 |
skin | malignant_melanoma | Substitution - Missense |
c.920G>A; p.G307D; 23:108581011-108581011 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1483C>T; p.Q495*; 23:108595568-108595568 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.2674C>T; p.P892S; 23:108620423-108620423 |
NS | malignant_melanoma | Substitution - Missense |
c.1376_1377insA; p.G460fs*5; 23:108591597-108591598 |
breast | carcinoma | Insertion - Frameshift |
c.4511-1G>T; p.?; 23:108692747-108692747 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.3901G>A; p.D1301N; 23:108677610-108677610 |
skin | malignant_melanoma | Substitution - Missense |
c.331G>A; p.G111S; 23:108568768-108568768 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4140C>T; p.I1380I; 23:108681830-108681830 |
skin | malignant_melanoma | Substitution - coding silent |
c.4722C>T; p.I1574I; 23:108694840-108694840 |
skin | malignant_melanoma | Substitution - coding silent |
c.1148G>T; p.G383V; 23:108586730-108586730 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1293T>C; p.P431P; 23:108591185-108591185 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2813G>A; p.G938E; 23:108622721-108622721 |
liver | carcinoma | Substitution - Missense |
c.1331T>G; p.I444S; 23:108591223-108591223 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2813G>A; p.G938E; 23:108622721-108622721 |
liver | carcinoma | Substitution - Missense |
c.188G>A; p.G63E; 23:108559110-108559110 |
skin | malignant_melanoma | Substitution - Missense |
c.81G>A; p.A27A; 23:108440206-108440206 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1033-2A>C; p.?; 23:108586613-108586613 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.741G>A; p.Q247Q; 23:108578344-108578344 |
skin | malignant_melanoma | Substitution - coding silent |
c.4891G>A; p.E1631K; 23:108695354-108695354 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4891G>A; p.E1631K; 23:108695354-108695354 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4891G>A; p.E1631K; 23:108695354-108695354 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.467G>A; p.G156D; 23:108573575-108573575 |
skin | malignant_melanoma | Substitution - Missense |
c.4289G>T; p.G1430V; 23:108686121-108686121 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4548G>C; p.M1516I; 23:108692785-108692785 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1189G>T; p.G397C; 23:108591081-108591081 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4837G>T; p.A1613S; 23:108695300-108695300 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2968C>A; p.P990T; 23:108624286-108624286 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1219C>T; p.Q407*; 23:108591111-108591111 |
breast | carcinoma | Substitution - Nonsense |
c.1656T>G; p.T552T; 23:108597445-108597445 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1656T>G; p.T552T; 23:108597445-108597445 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.340delG; p.A115fs*40; 23:108568777-108568777 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3936C>T; p.G1312G; 23:108680690-108680690 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.4146C>T; p.G1382G; 23:108681836-108681836 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4941T>C; p.F1647F; 23:108695404-108695404 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5020C>T; p.R1674*; 23:108696340-108696340 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.937-8T>A; p.?; 23:108582876-108582876 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.1110A>T; p.K370N; 23:108586692-108586692 |
skin | malignant_melanoma | Substitution - Missense |
c.3651C>A; p.G1217G; 23:108668365-108668365 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1790C>A; p.T597N; 23:108598712-108598712 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.737A>G; p.E246G; 23:108578340-108578340 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3728C>T; p.P1243L; 23:108668442-108668442 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3130C>T; p.P1044S; 23:108626233-108626233 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3728C>T; p.P1243L; 23:108668442-108668442 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1180G>A; p.G394S; 23:108591072-108591072 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4061G>C; p.G1354A; 23:108680948-108680948 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1503C>T; p.L501L; 23:108595588-108595588 |
skin | malignant_melanoma | Substitution - coding silent |
c.1126C>T; p.P376S; 23:108586708-108586708 |
skin | malignant_melanoma | Substitution - Missense |
c.4219G>A; p.D1407N; 23:108686051-108686051 |
breast | carcinoma | Substitution - Missense |
c.2403T>C; p.V801V; 23:108614918-108614918 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.128T>C; p.I43T; 23:108539792-108539792 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4753C>T; p.H1585Y; 23:108694871-108694871 |
skin | malignant_melanoma | Substitution - Missense |
c.3657A>G; p.P1219P; 23:108668371-108668371 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2883C>A; p.G961G; 23:108622791-108622791 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1105G>T; p.E369*; 23:108586687-108586687 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.276+1G>T; p.?; 23:108563927-108563927 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1250C>T; p.S417F; 23:108591142-108591142 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.996A>C; p.Q332H; 23:108584489-108584489 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1458A>C; p.G486G; 23:108595543-108595543 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3080G>A; p.G1027E; 23:108625768-108625768 |
skin | malignant_melanoma | Substitution - Missense |
c.1143A>C; p.P381P; 23:108586725-108586725 |
breast | carcinoma | Substitution - coding silent |
c.1100C>T; p.P367L; 23:108586682-108586682 |
skin | malignant_melanoma | Substitution - Missense |
c.1100C>T; p.P367L; 23:108586682-108586682 |
skin | malignant_melanoma | Substitution - Missense |
c.1805G>T; p.R602I; 23:108598727-108598727 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2543C>A; p.P848Q; 23:108620292-108620292 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.4807A>T; p.T1603S; 23:108695270-108695270 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.271A>T; p.I91F; 23:108563921-108563921 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3611A>G; p.K1204R; 23:108668325-108668325 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.439-8A>C; p.?; 23:108571803-108571803 |
stomach | adenocarcinoma | Unknown |
c.3069T>G; p.P1023P; 23:108625757-108625757 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3156A>C; p.Q1052H; 23:108626259-108626259 |
skin | malignant_melanoma | Substitution - Missense |
c.1443C>A; p.C481*; 23:108595528-108595528 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3667G>A; p.G1223S; 23:108668381-108668381 |
skin | malignant_melanoma | Substitution - Missense |
c.2482G>A; p.G828R; 23:108614997-108614997 |
skin | malignant_melanoma | Substitution - Missense |
c.2173G>T; p.G725*; 23:108602990-108602990 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4818G>A; p.G1606G; 23:108695281-108695281 |
skin | malignant_melanoma | Substitution - coding silent |
c.2948A>G; p.Y983C; 23:108624266-108624266 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2948A>G; p.Y983C; 23:108624266-108624266 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3972T>G; p.G1324G; 23:108680726-108680726 |
breast | carcinoma | Substitution - coding silent |
c.1032+6delT; p.?; 23:108584531-108584531 |
liver | carcinoma | Unknown |
c.1032+6delT; p.?; 23:108584531-108584531 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.1700G>A; p.G567E; 23:108597489-108597489 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.952C>T; p.P318S; 23:108582899-108582899 |
skin | malignant_melanoma | Substitution - Missense |
c.1172C>A; p.A391E; 23:108591064-108591064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1472G>A; p.G491E; 23:108595557-108595557 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2789A>T; p.Q930L; 23:108622697-108622697 |
kidney | other; neoplasm | Substitution - Missense |
c.3555T>C; p.G1185G; 23:108667134-108667134 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1622C>T; p.P541L; 23:108597411-108597411 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1622C>T; p.P541L; 23:108597411-108597411 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2928A>G; p.G976G; 23:108624246-108624246 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.157C>T; p.P53S; 23:108559079-108559079 |
skin | malignant_melanoma | Substitution - Missense |
c.3628C>A; p.P1210T; 23:108668342-108668342 |
liver | carcinoma | Substitution - Missense |
c.1698T>C; p.P566P; 23:108597487-108597487 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1076G>A; p.G359E; 23:108586658-108586658 |
skin | malignant_melanoma | Substitution - Missense |
c.1076G>A; p.G359E; 23:108586658-108586658 |
skin | malignant_melanoma | Substitution - Missense |
c.412G>T; p.G138C; 23:108571440-108571440 |
breast | carcinoma | Substitution - Missense |
c.2928A>G; p.G976G; 23:108624246-108624246 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3165C>T; p.S1055S; 23:108626268-108626268 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3716C>T; p.P1239L; 23:108668430-108668430 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.31G>A; p.G11S; 23:108440156-108440156 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4220A>G; p.D1407G; 23:108686052-108686052 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4718T>G; p.V1573G; 23:108694836-108694836 |
liver | carcinoma | Substitution - Missense |
c.1214G>T; p.R405M; 23:108591106-108591106 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4718T>G; p.V1573G; 23:108694836-108694836 |
liver | carcinoma | Substitution - Missense |
c.242G>A; p.G81E; 23:108563892-108563892 |
skin | malignant_melanoma | Substitution - Missense |
c.4359T>A; p.P1453P; 23:108687543-108687543 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1814C>A; p.P605H; 23:108598736-108598736 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3805G>T; p.E1269*; 23:108677514-108677514 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.820A>G; p.I274V; 23:108580572-108580572 |
breast | carcinoma | Substitution - Missense |
c.2633G>A; p.G878E; 23:108620382-108620382 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4126G>T; p.G1376C; 23:108681816-108681816 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2633G>A; p.G878E; 23:108620382-108620382 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.4486A>G; p.K1496E; 23:108687670-108687670 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1379G>A; p.G460E; 23:108591600-108591600 |
skin | malignant_melanoma | Substitution - Missense |
c.322-5C>T; p.?; 23:108568754-108568754 |
liver | carcinoma | Unknown |
c.679G>T; p.G227C; 23:108578111-108578111 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4523G>A; p.S1508N; 23:108692760-108692760 |
breast | carcinoma | Substitution - Missense |
c.679G>A; p.G227S; 23:108578111-108578111 |
skin | malignant_melanoma | Substitution - Missense |
c.2183G>T; p.G728V; 23:108603000-108603000 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.367G>A; p.G123R; 23:108568804-108568804 |
thyroid | carcinoma | Substitution - Missense |
c.3340G>A; p.A1114T; 23:108655424-108655424 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.322-5C>T; p.?; 23:108568754-108568754 |
liver | carcinoma | Unknown |
c.4075C>T; p.P1359S; 23:108681765-108681765 |
breast | carcinoma | Substitution - Missense |
c.4075C>T; p.P1359S; 23:108681765-108681765 |
skin; acral | malignant_melanoma | Substitution - Missense |
c.1880C>T; p.P627L; 23:108598802-108598802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4075C>T; p.P1359S; 23:108681765-108681765 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1140T>C; p.G380G; 23:108586722-108586722 |
breast | carcinoma | Substitution - coding silent |
c.856G>T; p.G286C; 23:108580703-108580703 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4810A>G; p.S1604G; 23:108695273-108695273 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2558T>A; p.L853H; 23:108620307-108620307 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.929G>A; p.G310E; 23:108581020-108581020 |
skin | malignant_melanoma | Substitution - Missense |
c.4123G>T; p.A1375S; 23:108681813-108681813 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5030G>A; p.R1677Q; 23:108696350-108696350 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1914T>C; p.G638G; 23:108598836-108598836 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.462G>A; p.M154I; 23:108571834-108571834 |
skin | malignant_melanoma | Substitution - Missense |
c.2484G>A; p.G828G; 23:108614999-108614999 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.462G>A; p.M154I; 23:108571834-108571834 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.4594A>G; p.R1532G; 23:108692831-108692831 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3923+1G>T; p.?; 23:108677633-108677633 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2722G>A; p.G908R; 23:108621847-108621847 |
NS | malignant_melanoma | Substitution - Missense |
c.2722G>A; p.G908R; 23:108621847-108621847 |
NS | malignant_melanoma | Substitution - Missense |
c.2493G>A; p.G831G; 23:108615008-108615008 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.1539G>T; p.Q513H; 23:108597020-108597020 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2842C>T; p.L948F; 23:108622750-108622750 |
skin | malignant_melanoma | Substitution - Missense |
c.1772G>A; p.G591E; 23:108597561-108597561 |
skin | malignant_melanoma | Substitution - Missense |
c.3056T>C; p.L1019P; 23:108625744-108625744 |
skin | malignant_melanoma | Substitution - Missense |
c.3927T>G; p.G1309G; 23:108680681-108680681 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2731G>A; p.G911R; 23:108621856-108621856 |
skin | malignant_melanoma | Substitution - Missense |
c.2483_2484GG>AT; p.G828D; 23:108614998-108614999 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.121A>C; p.S41R; 23:108539785-108539785 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3914C>T; p.P1305L; 23:108677623-108677623 |
breast | carcinoma | Substitution - Missense |
c.4397G>A; p.R1466H; 23:108687581-108687581 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2830_2831GG>AA; p.G944K; 23:108622738-108622739 |
skin | malignant_melanoma | Substitution - Missense |
c.4168C>T; p.P1390S; 23:108681858-108681858 |
ovary | other; neoplasm | Substitution - Missense |
c.892-1G>C; p.?; 23:108580982-108580982 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.2245-2A>T; p.?; 23:108606740-108606740 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.232-1G>T; p.?; 23:108563881-108563881 |
lung | carcinoma; adenocarcinoma | Unknown |
c.4005A>G; p.K1335K; 23:108680892-108680892 |
liver | carcinoma | Substitution - coding silent |
c.4005A>G; p.K1335K; 23:108680892-108680892 |
liver | carcinoma | Substitution - coding silent |
c.3989G>A; p.G1330E; 23:108680743-108680743 |
skin | malignant_melanoma | Substitution - Missense |
c.2617C>T; p.P873S; 23:108620366-108620366 |
skin | malignant_melanoma | Substitution - Missense |
c.950A>G; p.D317G; 23:108582897-108582897 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2596G>T; p.G866W; 23:108620345-108620345 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4050G>A; p.P1350P; 23:108680937-108680937 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1627T>G; p.S543A; 23:108597416-108597416 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.521G>A; p.G174E; 23:108573629-108573629 |
skin | malignant_melanoma | Substitution - Missense |
c.1818G>A; p.G606G; 23:108598740-108598740 |
skin | malignant_melanoma | Substitution - coding silent |
c.1339+8A>G; p.?; 23:108591239-108591239 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.4516G>A; p.A1506T; 23:108692753-108692753 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.4516G>A; p.A1506T; 23:108692753-108692753 |
skin | malignant_melanoma | Substitution - Missense |
c.2968C>T; p.P990S; 23:108624286-108624286 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.220C>T; p.R74W; 23:108559142-108559142 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.220C>T; p.R74W; 23:108559142-108559142 |
skin | malignant_melanoma | Substitution - Missense |
c.3864C>T; p.G1288G; 23:108677573-108677573 |
skin | malignant_melanoma | Substitution - coding silent |
c.3346G>A; p.G1116R; 23:108655430-108655430 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2431G>C; p.G811R; 23:108614946-108614946 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4006G>A; p.G1336R; 23:108680893-108680893 |
skin | malignant_melanoma | Substitution - Missense |
c.2176G>T; p.A726S; 23:108602993-108602993 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1875C>T; p.F625F; 23:108598797-108598797 |
skin | malignant_melanoma | Substitution - coding silent |
c.1107A>C; p.E369D; 23:108586689-108586689 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2583A>G; p.E861E; 23:108620332-108620332 |
skin | malignant_melanoma | Substitution - coding silent |
c.141G>A; p.K47K; 23:108539805-108539805 |
skin | malignant_melanoma | Substitution - coding silent |
c.4534C>T; p.R1512C; 23:108692771-108692771 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2188C>A; p.P730T; 23:108603005-108603005 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.768G>A; p.Q256Q; 23:108578371-108578371 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4471T>C; p.Y1491H; 23:108687655-108687655 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3670G>A; p.E1224K; 23:108668384-108668384 |
skin | malignant_melanoma | Substitution - Missense |
c.3795A>G; p.L1265L; 23:108677504-108677504 |
prostate | carcinoma | Substitution - coding silent |
c.3670G>A; p.E1224K; 23:108668384-108668384 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3670G>A; p.E1224K; 23:108668384-108668384 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3189C>T; p.G1063G; 23:108626292-108626292 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4270G>T; p.G1424*; 23:108686102-108686102 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.973G>T; p.G325*; 23:108582920-108582920 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Nonsense |
c.2414G>A; p.G805E; 23:108614929-108614929 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.411C>G; p.P137P; 23:108571439-108571439 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4427G>A; p.C1476Y; 23:108687611-108687611 |
pituitary; craniopharyngeal_duct | craniopharyngioma; adamantinomatous | Substitution - Missense |
c.3087C>T; p.I1029I; 23:108625775-108625775 |
skin | malignant_melanoma | Substitution - coding silent |
c.4996C>T; p.L1666L; 23:108696316-108696316 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4746G>C; p.Q1582H; 23:108694864-108694864 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4282C>G; p.L1428V; 23:108686114-108686114 |
pancreas | carcinoma | Substitution - Missense |
c.2891G>A; p.G964E; 23:108622799-108622799 |
skin | malignant_melanoma | Substitution - Missense |
c.3523C>T; p.P1175S; 23:108666564-108666564 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.2891G>A; p.G964E; 23:108622799-108622799 |
skin | malignant_melanoma | Substitution - Missense |
c.3030C>T; p.N1010N; 23:108625718-108625718 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.172C>T; p.H58Y; 23:108559094-108559094 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4515G>T; p.T1505T; 23:108692752-108692752 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4641G>T; p.M1547I; 23:108692878-108692878 |
skin | malignant_melanoma | Substitution - Missense |
c.4034G>T; p.G1345V; 23:108680921-108680921 |
breast | carcinoma | Substitution - Missense |
c.4043G>A; p.G1348E; 23:108680930-108680930 |
skin | malignant_melanoma | Substitution - Missense |
c.2732G>A; p.G911E; 23:108621857-108621857 |
skin | malignant_melanoma | Substitution - Missense |
c.440G>A; p.G147E; 23:108571812-108571812 |
skin | malignant_melanoma | Substitution - Missense |
c.3039C>T; p.L1013L; 23:108625727-108625727 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.440G>A; p.G147E; 23:108571812-108571812 |
skin | malignant_melanoma | Substitution - Missense |
c.5003C>T; p.A1668V; 23:108696323-108696323 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4275C>G; p.D1425E; 23:108686107-108686107 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.440G>A; p.G147E; 23:108571812-108571812 |
skin | malignant_melanoma | Substitution - Missense |
c.3511C>A; p.Q1171K; 23:108666552-108666552 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.499C>T; p.P167S; 23:108573607-108573607 |
skin | malignant_melanoma | Substitution - Missense |
c.3656C>T; p.P1219L; 23:108668370-108668370 |
skin | malignant_melanoma | Substitution - Missense |
c.4864G>A; p.E1622K; 23:108695327-108695327 |
skin | malignant_melanoma | Substitution - Missense |
c.3661C>T; p.P1221S; 23:108668375-108668375 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2349G>A; p.P783P; 23:108606846-108606846 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.323G>A; p.G108E; 23:108568760-108568760 |
skin | malignant_melanoma | Substitution - Missense |
c.1825G>A; p.G609S; 23:108598747-108598747 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3762T>G; p.P1254P; 23:108668476-108668476 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2902G>A; p.E968K; 23:108622810-108622810 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2244G>T; p.K748N; 23:108603061-108603061 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3493G>A; p.E1165K; 23:108666534-108666534 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1048G>T; p.G350W; 23:108586630-108586630 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.2902G>A; p.E968K; 23:108622810-108622810 |
skin | malignant_melanoma | Substitution - Missense |
c.3604G>A; p.G1202S; 23:108667183-108667183 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1749G>T; p.L583F; 23:108597538-108597538 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3957G>A; p.M1319I; 23:108680711-108680711 |
skin | malignant_melanoma | Substitution - Missense |
c.3957G>A; p.M1319I; 23:108680711-108680711 |
skin | malignant_melanoma | Substitution - Missense |
c.3957G>A; p.M1319I; 23:108680711-108680711 |
skin | malignant_melanoma | Substitution - Missense |
c.1118G>A; p.R373Q; 23:108586700-108586700 |
skin | malignant_melanoma | Substitution - Missense |
c.2480C>A; p.P827Q; 23:108614995-108614995 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2737C>T; p.P913S; 23:108621862-108621862 |
skin | malignant_melanoma | Substitution - Missense |
c.1510C>T; p.P504S; 23:108595595-108595595 |
skin | malignant_melanoma | Substitution - Missense |
c.3062G>C; p.G1021A; 23:108625750-108625750 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4234G>A; p.G1412R; 23:108686066-108686066 |
skin | malignant_melanoma | Substitution - Missense |
c.1256C>A; p.P419H; 23:108591148-108591148 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1510C>T; p.P504S; 23:108595595-108595595 |
NS | malignant_melanoma | Substitution - Missense |
c.1263T>G; p.P421P; 23:108591155-108591155 |
thyroid | carcinoma | Substitution - coding silent |
c.134G>T; p.G45V; 23:108539798-108539798 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3745G>T; p.G1249*; 23:108668459-108668459 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3802C>G; p.P1268A; 23:108677511-108677511 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2773G>A; p.D925N; 23:108622681-108622681 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3535G>T; p.G1179*; 23:108666576-108666576 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4786G>A; p.G1596S; 23:108694904-108694904 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1625G>A; p.G542E; 23:108597414-108597414 |
skin | malignant_melanoma | Substitution - Missense |
c.2052A>G; p.G684G; 23:108601895-108601895 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1625G>A; p.G542E; 23:108597414-108597414 |
skin | malignant_melanoma | Substitution - Missense |
c.4938C>A; p.S1646R; 23:108695401-108695401 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1771G>T; p.G591*; 23:108597560-108597560 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.487A>G; p.M163V; 23:108573595-108573595 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2678-1G>A; p.?; 23:108621802-108621802 |
skin | malignant_melanoma | Unknown |
c.3067C>T; p.P1023S; 23:108625755-108625755 |
skin | malignant_melanoma | Substitution - Missense |
c.4739C>T; p.T1580M; 23:108694857-108694857 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4739C>T; p.T1580M; 23:108694857-108694857 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3995C>A; p.P1332Q; 23:108680749-108680749 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.4817G>C; p.G1606A; 23:108695280-108695280 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.639A>T; p.G213G; 23:108577981-108577981 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.394G>T; p.G132*; 23:108571422-108571422 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3666G>A; p.K1222K; 23:108668380-108668380 |
lung | carcinoid-endocrine_tumour; typical | Substitution - coding silent |
c.1024C>T; p.P342S; 23:108584517-108584517 |
skin | malignant_melanoma | Substitution - Missense |
c.791G>T; p.G264V; 23:108580543-108580543 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.4595G>T; p.R1532I; 23:108692832-108692832 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.885C>A; p.G295G; 23:108580732-108580732 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - coding silent |
c.1633G>A; p.G545S; 23:108597422-108597422 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1759C>T; p.P587S; 23:108597548-108597548 |
breast | carcinoma | Substitution - Missense |
c.3165C>G; p.S1055S; 23:108626268-108626268 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2229C>T; p.G743G; 23:108603046-108603046 |
skin | malignant_melanoma | Substitution - coding silent |
c.505C>T; p.P169S; 23:108573613-108573613 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.4738A>G; p.T1580A; 23:108694856-108694856 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.128T>G; p.I43R; 23:108539792-108539792 |
thyroid | other; neoplasm | Substitution - Missense |
c.773G>A; p.G258E; 23:108578376-108578376 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.4027T>C; p.S1343P; 23:108680914-108680914 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3292G>A; p.G1098S; 23:108655376-108655376 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1435G>T; p.D479Y; 23:108595520-108595520 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4028C>T; p.S1343L; 23:108680915-108680915 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1532C>A; p.P511H; 23:108597013-108597013 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2938C>A; p.P980T; 23:108624256-108624256 |
liver | carcinoma | Substitution - Missense |
c.2266C>T; p.P756S; 23:108606763-108606763 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3967C>T; p.P1323S; 23:108680721-108680721 |
skin | malignant_melanoma | Substitution - Missense |
c.341G>A; p.G114E; 23:108568778-108568778 |
skin | malignant_melanoma | Substitution - Missense |
c.4544C>T; p.T1515I; 23:108692781-108692781 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.341G>A; p.G114E; 23:108568778-108568778 |
skin | malignant_melanoma | Substitution - Missense |
c.2710C>T; p.P904S; 23:108621835-108621835 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2450G>A; p.G817E; 23:108614965-108614965 |
skin | malignant_melanoma | Substitution - Missense |
c.296G>T; p.G99V; 23:108568648-108568648 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.10C>T; p.R4C; 23:108440135-108440135 |
pancreas | carcinoma | Substitution - Missense |
c.1765C>T; p.P589S; 23:108597554-108597554 |
skin | malignant_melanoma | Substitution - Missense |
c.1708G>C; p.G570R; 23:108597497-108597497 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1242T>C; p.P414P; 23:108591134-108591134 |
liver | carcinoma | Substitution - coding silent |
c.1617C>T; p.G539G; 23:108597406-108597406 |
skin | malignant_melanoma | Substitution - coding silent |
c.385G>A; p.G129R; 23:108571413-108571413 |
skin | malignant_melanoma | Substitution - Missense |
c.1834G>T; p.G612C; 23:108598756-108598756 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1378G>A; p.G460R; 23:108591599-108591599 |
skin | malignant_melanoma | Substitution - Missense |
c.1374C>T; p.P458P; 23:108591595-108591595 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.4485T>C; p.N1495N; 23:108687669-108687669 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.549C>T; p.G183G; 23:108575912-108575912 |
skin | malignant_melanoma | Substitution - coding silent |
c.4158A>T; p.L1386L; 23:108681848-108681848 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3470C>A; p.P1157H; 23:108666511-108666511 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4445A>C; p.Q1482P; 23:108687629-108687629 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3057T>C; p.L1019L; 23:108625745-108625745 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2987G>T; p.S996I; 23:108624305-108624305 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2987G>T; p.S996I; 23:108624305-108624305 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3169G>A; p.G1057R; 23:108626272-108626272 |
skin | malignant_melanoma | Substitution - Missense |
c.1071A>T; p.E357D; 23:108586653-108586653 |
skin | malignant_melanoma | Substitution - Missense |
c.2601C>T; p.I867I; 23:108620350-108620350 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - coding silent |
c.4464T>A; p.S1488S; 23:108687648-108687648 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2601C>T; p.I867I; 23:108620350-108620350 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1450T>G; p.C484G; 23:108595535-108595535 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3276G>T; p.G1092G; 23:108655360-108655360 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3433C>T; p.P1145S; 23:108665566-108665566 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2800C>T; p.P934S; 23:108622708-108622708 |
skin | malignant_melanoma | Substitution - Missense |
c.535C>T; p.P179S; 23:108573643-108573643 |
skin | malignant_melanoma | Substitution - Missense |
c.132A>T; p.K44N; 23:108539796-108539796 |
ovary | other; neoplasm | Substitution - Missense |
c.1845G>A; p.G615G; 23:108598767-108598767 |
skin; leg | malignant_melanoma; nodular | Substitution - coding silent |
c.2431_2432GG>TT; p.G811L; 23:108614946-108614947 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.268G>A; p.G90R; 23:108563918-108563918 |
skin | malignant_melanoma | Substitution - Missense |
c.992G>T; p.G331V; 23:108584485-108584485 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3461G>A; p.G1154E; 23:108666502-108666502 |
skin | malignant_melanoma | Substitution - Missense |
c.2711C>T; p.P904L; 23:108621836-108621836 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2329C>T; p.R777C; 23:108606826-108606826 |
skin | malignant_melanoma | Substitution - Missense |
c.1867C>T; p.P623S; 23:108598789-108598789 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2999G>A; p.G1000E; 23:108624317-108624317 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.666C>T; p.F222F; 23:108578098-108578098 |
skin | malignant_melanoma | Substitution - coding silent |
c.253C>A; p.P85T; 23:108563903-108563903 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4966G>T; p.D1656Y; 23:108695429-108695429 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1996G>T; p.G666C; 23:108601440-108601440 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1698T>A; p.P566P; 23:108597487-108597487 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4378C>T; p.H1460Y; 23:108687562-108687562 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1310C>T; p.P437L; 23:108591202-108591202 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1313G>A; p.G438D; 23:108591205-108591205 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2354C>T; p.P785L; 23:108606851-108606851 |
skin | malignant_melanoma | Substitution - Missense |
c.2539G>A; p.D847N; 23:108620288-108620288 |
skin | malignant_melanoma | Substitution - Missense |
c.835G>T; p.G279C; 23:108580682-108580682 |
liver | carcinoma | Substitution - Missense |
c.835G>T; p.G279C; 23:108580682-108580682 |
liver | carcinoma | Substitution - Missense |
c.981T>C; p.D327D; 23:108582928-108582928 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2423G>T; p.G808V; 23:108614938-108614938 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.253C>T; p.P85S; 23:108563903-108563903 |
skin | malignant_melanoma | Substitution - Missense |
c.4117G>T; p.G1373*; 23:108681807-108681807 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.418C>T; p.P140S; 23:108571446-108571446 |
skin | malignant_melanoma | Substitution - Missense |
c.4947G>A; p.L1649L; 23:108695410-108695410 |
liver | carcinoma | Substitution - coding silent |
c.3164C>T; p.S1055F; 23:108626267-108626267 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3126G>A; p.G1042G; 23:108626229-108626229 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4947G>A; p.L1649L; 23:108695410-108695410 |
liver | carcinoma | Substitution - coding silent |
c.4551T>A; p.P1517P; 23:108692788-108692788 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1396G>T; p.G466*; 23:108591617-108591617 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4523G>T; p.S1508I; 23:108692760-108692760 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4873C>T; p.R1625C; 23:108695336-108695336 |
skin | malignant_melanoma | Substitution - Missense |
c.62G>A; p.G21E; 23:108440187-108440187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3770A>T; p.Q1257L; 23:108668484-108668484 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.62G>A; p.G21E; 23:108440187-108440187 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3758A>T; p.N1253I; 23:108668472-108668472 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.62G>A; p.G21E; 23:108440187-108440187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3041C>T; p.P1014L; 23:108625729-108625729 |
skin | malignant_melanoma | Substitution - Missense |
c.3655C>T; p.P1219S; 23:108668369-108668369 |
skin | malignant_melanoma | Substitution - Missense |
c.647G>A; p.G216E; 23:108578079-108578079 |
skin | malignant_melanoma | Substitution - Missense |
c.296G>A; p.G99E; 23:108568648-108568648 |
skin | malignant_melanoma | Substitution - Missense |
c.647G>A; p.G216E; 23:108578079-108578079 |
skin | malignant_melanoma | Substitution - Missense |
c.4357C>A; p.P1453T; 23:108687541-108687541 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1773A>G; p.G591G; 23:108597562-108597562 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.937-1G>T; p.?; 23:108582883-108582883 |
liver | carcinoma | Unknown |
c.2888A>C; p.K963T; 23:108622796-108622796 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.729G>T; p.Q243H; 23:108578332-108578332 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2317C>T; p.P773S; 23:108606814-108606814 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1773A>G; p.G591G; 23:108597562-108597562 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.4409C>G; p.T1470R; 23:108687593-108687593 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.785T>A; p.L262H; 23:108580537-108580537 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.187G>A; p.G63R; 23:108559109-108559109 |
skin | malignant_melanoma | Substitution - Missense |
c.1427A>G; p.D476G; 23:108595512-108595512 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3709C>T; p.P1237S; 23:108668423-108668423 |
skin | malignant_melanoma | Substitution - Missense |
c.3709C>T; p.P1237S; 23:108668423-108668423 |
skin | malignant_melanoma | Substitution - Missense |
c.4066C>T; p.P1356S; 23:108680953-108680953 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3283G>T; p.G1095C; 23:108655367-108655367 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2448A>T; p.P816P; 23:108614963-108614963 |
liver | carcinoma | Substitution - coding silent |
c.914delA; p.N306fs*40; 23:108581005-108581005 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3627A>G; p.L1209L; 23:108668341-108668341 |
liver | carcinoma | Substitution - coding silent |
c.3627A>G; p.L1209L; 23:108668341-108668341 |
liver | carcinoma | Substitution - coding silent |
c.4514C>T; p.T1505M; 23:108692751-108692751 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2477C>A; p.P826Q; 23:108614992-108614992 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.4514C>T; p.T1505M; 23:108692751-108692751 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2363G>A; p.R788H; 23:108606860-108606860 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.231+9C>T; p.?; 23:108559162-108559162 |
liver | carcinoma | Unknown |
c.322G>A; p.G108R; 23:108568759-108568759 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3989G>C; p.G1330A; 23:108680743-108680743 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1939G>A; p.G647R; 23:108598861-108598861 |
skin | malignant_melanoma | Substitution - Missense |
c.1939G>A; p.G647R; 23:108598861-108598861 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3551C>T; p.P1184L; 23:108666592-108666592 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2233C>T; p.P745S; 23:108603050-108603050 |
skin | malignant_melanoma | Substitution - Missense |
c.1461T>C; p.T487T; 23:108595546-108595546 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.404G>T; p.G135V; 23:108571432-108571432 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.628G>T; p.G210*; 23:108577970-108577970 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.197G>T; p.G66V; 23:108559119-108559119 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.867T>C; p.G289G; 23:108580714-108580714 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4874G>A; p.R1625H; 23:108695337-108695337 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3209T>G; p.I1070S; 23:108626312-108626312 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1031T>C; p.L344P; 23:108584524-108584524 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4874G>A; p.R1625H; 23:108695337-108695337 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.7C>T; p.L3L; 23:108440132-108440132 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3620G>A; p.G1207E; 23:108668334-108668334 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1292C>T; p.P431L; 23:108591184-108591184 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3632G>T; p.G1211V; 23:108668346-108668346 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2152C>T; p.P718S; 23:108602969-108602969 |
skin | malignant_melanoma | Substitution - Missense |
c.2078G>A; p.G693E; 23:108601921-108601921 |
skin | malignant_melanoma | Substitution - Missense |
c.4342_4343GG>AA; p.G1448N; 23:108687526-108687527 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.858T>G; p.G286G; 23:108580705-108580705 |
breast | carcinoma | Substitution - coding silent |
c.3599delT; p.S1201fs*98; 23:108667178-108667178 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4262G>T; p.G1421V; 23:108686094-108686094 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.400C>T; p.P134S; 23:108571428-108571428 |
skin | malignant_melanoma | Substitution - Missense |
c.1779T>C; p.P593P; 23:108597568-108597568 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.400C>T; p.P134S; 23:108571428-108571428 |
skin | malignant_melanoma | Substitution - Missense |
c.400C>T; p.P134S; 23:108571428-108571428 |
skin | malignant_melanoma | Substitution - Missense |
c.3913C>T; p.P1305S; 23:108677622-108677622 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.3690C>T; p.F1230F; 23:108668404-108668404 |
skin | malignant_melanoma | Substitution - coding silent |
c.4815A>T; p.A1605A; 23:108695278-108695278 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.3074T>G; p.L1025R; 23:108625762-108625762 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.4723G>A; p.A1575T; 23:108694841-108694841 |
liver | carcinoma | Substitution - Missense |
c.3684C>T; p.H1228H; 23:108668398-108668398 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4446G>A; p.Q1482Q; 23:108687630-108687630 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3651C>T; p.G1217G; 23:108668365-108668365 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1457G>A; p.G486E; 23:108595542-108595542 |
skin | malignant_melanoma | Substitution - Missense |
c.1155T>C; p.P385P; 23:108586737-108586737 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - coding silent |
c.3513A>G; p.Q1171Q; 23:108666554-108666554 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.4740G>A; p.T1580T; 23:108694858-108694858 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.748C>A; p.P250T; 23:108578351-108578351 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.395G>T; p.G132V; 23:108571423-108571423 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1276G>A; p.G426R; 23:108591168-108591168 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.778C>T; p.Q260*; 23:108578381-108578381 |
skin; trunk | malignant_melanoma | Substitution - Nonsense |
c.4948G>A; p.A1650T; 23:108695411-108695411 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4655T>C; p.L1552P; 23:108692892-108692892 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2865G>A; p.M955I; 23:108622773-108622773 |
skin | malignant_melanoma | Substitution - Missense |
c.4535G>A; p.R1512H; 23:108692772-108692772 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4396C>T; p.R1466C; 23:108687580-108687580 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1816G>T; p.G606W; 23:108598738-108598738 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2855C>T; p.P952L; 23:108622763-108622763 |
skin | malignant_melanoma | Substitution - Missense |
c.4945C>A; p.L1649M; 23:108695408-108695408 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2821G>T; p.G941C; 23:108622729-108622729 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2255G>A; p.G752E; 23:108606752-108606752 |
skin | malignant_melanoma | Substitution - Missense |
c.2855C>T; p.P952L; 23:108622763-108622763 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2255G>A; p.G752E; 23:108606752-108606752 |
skin | malignant_melanoma | Substitution - Missense |
c.4396C>T; p.R1466C; 23:108687580-108687580 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4003A>G; p.K1335E; 23:108680890-108680890 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2552C>G; p.P851R; 23:108620301-108620301 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3998-2A>G; p.?; 23:108680883-108680883 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2741G>A; p.G914D; 23:108621866-108621866 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2245-1G>T; p.?; 23:108606741-108606741 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.2653A>T; p.K885*; 23:108620402-108620402 |
breast | carcinoma | Substitution - Nonsense |
c.5016G>A; p.R1672R; 23:108696336-108696336 |
skin | malignant_melanoma | Substitution - coding silent |
c.5028C>T; p.S1676S; 23:108696348-108696348 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.4875T>C; p.R1625R; 23:108695338-108695338 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.937-2A>G; p.?; 23:108582882-108582882 |
liver | carcinoma | Unknown |
c.3247G>T; p.G1083C; 23:108655331-108655331 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.834+9C>T; p.?; 23:108580595-108580595 |
prostate | carcinoma | Unknown |
c.4265G>A; p.R1422H; 23:108686097-108686097 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3319G>A; p.G1107R; 23:108655403-108655403 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |