| Gene ID | 3643 |
| Symbol | INSR |
| Synonymous | CD220|HHF5 |
| Full name | insulin receptor |
| Gene description | IR |
| Cytoband | 19p13.3-p13.2 |
| Gene type | protein-coding |
| Synonymous | MIM:147670; HGNC:HGNC:6091; Ensembl:ENSG00000171105; HPRD:00975; Vega:OTTHUMG00000181992 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.3610G>A; p.A1204T; 19:7120669-7120669 |
skin | malignant_melanoma | Substitution - Missense |
c.4037G>A; p.G1346E; 19:7117168-7117168 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2223C>T; p.F741F; 19:7152734-7152734 |
skin | malignant_melanoma | Substitution - coding silent |
c.778C>T; p.L260L; 19:7184512-7184512 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2192C>T; p.T731M; 19:7152765-7152765 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.275G>T; p.R92L; 19:7267722-7267722 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3849C>T; p.F1283F; 19:7117356-7117356 |
NS | malignant_melanoma | Substitution - coding silent |
c.3849C>T; p.F1283F; 19:7117356-7117356 |
NS | malignant_melanoma | Substitution - coding silent |
c.1011G>T; p.K337N; 19:7174695-7174695 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1011G>T; p.K337N; 19:7174695-7174695 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.101-2A>G; p.?; 19:7267898-7267898 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2075A>T; p.E692V; 19:7152882-7152882 |
pancreas | carcinoma | Substitution - Missense |
c.499G>A; p.V167M; 19:7267498-7267498 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2618A>G; p.E873G; 19:7141741-7141741 |
skin; ear | malignant_melanoma | Substitution - Missense |
c.3220G>T; p.E1074*; 19:7125321-7125321 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3072C>T; p.T1024T; 19:7125469-7125469 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2039T>C; p.L680P; 19:7152918-7152918 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.981G>T; p.L327L; 19:7174725-7174725 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1229G>A; p.R410Q; 19:7172329-7172329 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1651T>C; p.C551R; 19:7166364-7166364 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.4031A>G; p.D1344G; 19:7117174-7117174 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4020G>C; p.A1340A; 19:7117185-7117185 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.3408G>T; p.M1136I; 19:7122735-7122735 |
skin | malignant_melanoma | Substitution - Missense |
c.959C>T; p.T320M; 19:7184331-7184331 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1204G>T; p.A402S; 19:7172354-7172354 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.381C>T; p.H127H; 19:7267616-7267616 |
skin | malignant_melanoma | Substitution - coding silent |
c.381C>T; p.H127H; 19:7267616-7267616 |
skin | malignant_melanoma | Substitution - coding silent |
c.219C>T; p.F73F; 19:7267778-7267778 |
skin | malignant_melanoma | Substitution - coding silent |
c.4096G>A; p.G1366R; 19:7117109-7117109 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2354C>T; p.S785L; 19:7143004-7143004 |
skin | malignant_melanoma | Substitution - Missense |
c.691G>A; p.E231K; 19:7184599-7184599 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.4146C>T; p.S1382S; 19:7117059-7117059 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2155A>G; p.I719V; 19:7152802-7152802 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4146C>T; p.S1382S; 19:7117059-7117059 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1908C>G; p.S636S; 19:7163153-7163153 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1118G>A; p.G373E; 19:7174588-7174588 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.812C>T; p.P271L; 19:7184478-7184478 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2267+2T>C; p.?; 19:7150495-7150495 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.153G>A; p.E51E; 19:7267844-7267844 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.439G>A; p.E147K; 19:7267558-7267558 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2118C>T; p.A706A; 19:7152839-7152839 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2899C>A; p.L967I; 19:7128898-7128898 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.829G>A; p.D277N; 19:7184461-7184461 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.380A>G; p.H127R; 19:7267617-7267617 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.573G>A; p.K191K; 19:7267424-7267424 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1099C>T; p.L367L; 19:7174607-7174607 |
skin | malignant_melanoma | Substitution - coding silent |
c.1635C>T; p.F545F; 19:7166380-7166380 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4077C>A; p.I1359I; 19:7117128-7117128 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.2797A>T; p.N933Y; 19:7132203-7132203 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2981C>T; p.S994F; 19:7126616-7126616 |
skin | malignant_melanoma | Substitution - Missense |
c.1977G>T; p.W659C; 19:7163084-7163084 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2753C>T; p.P918L; 19:7132247-7132247 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1066G>A; p.E356K; 19:7174640-7174640 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1679A>G; p.D560G; 19:7166336-7166336 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.756C>T; p.C252C; 19:7184534-7184534 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3202C>T; p.R1068W; 19:7125339-7125339 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.660G>A; p.P220P; 19:7184630-7184630 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2008G>A; p.E670K; 19:7163053-7163053 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2455C>A; p.R819S; 19:7142903-7142903 |
thyroid | other; neoplasm | Substitution - Missense |
c.3647C>T; p.S1216F; 19:7120632-7120632 |
skin | malignant_melanoma | Substitution - Missense |
c.1453G>A; p.A485T; 19:7170567-7170567 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2206C>T; p.L736L; 19:7152751-7152751 |
skin | malignant_melanoma | Substitution - coding silent |
c.1376C>T; p.P459L; 19:7170644-7170644 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1918C>T; p.L640L; 19:7163143-7163143 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2516A>G; p.Y839C; 19:7142842-7142842 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.204G>A; p.T68T; 19:7267793-7267793 |
skin | malignant_melanoma | Substitution - coding silent |
c.1484-1G>T; p.?; 19:7168095-7168095 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.3414G>A; p.Q1138Q; 19:7122729-7122729 |
skin | malignant_melanoma | Substitution - coding silent |
c.2563G>A; p.G855S; 19:7141796-7141796 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2608A>G; p.M870V; 19:7141751-7141751 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2101G>A; p.E701K; 19:7152856-7152856 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1939G>T; p.D647Y; 19:7163122-7163122 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1562C>T; p.P521L; 19:7168016-7168016 |
skin | malignant_melanoma | Substitution - Missense |
c.1207C>T; p.L403L; 19:7172351-7172351 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.235C>T; p.P79S; 19:7267762-7267762 |
skin | malignant_melanoma | Substitution - Missense |
c.2961G>T; p.P987P; 19:7126636-7126636 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2961G>T; p.P987P; 19:7126636-7126636 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1745G>A; p.G582D; 19:7166270-7166270 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2961G>T; p.P987P; 19:7126636-7126636 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2342C>T; p.P781L; 19:7143016-7143016 |
skin | malignant_melanoma | Substitution - Missense |
c.2001G>T; p.E667D; 19:7163060-7163060 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.107C>T; p.P36L; 19:7267890-7267890 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1610+1G>A; p.?; 19:7167967-7167967 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1861A>C; p.N621H; 19:7166154-7166154 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1127A>G; p.N376S; 19:7172431-7172431 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3556G>C; p.E1186Q; 19:7120723-7120723 |
breast | carcinoma | Substitution - Missense |
c.2045C>T; p.S682L; 19:7152912-7152912 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1156G>T; p.G386C; 19:7172402-7172402 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3033C>T; p.Y1011Y; 19:7125508-7125508 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2953G>T; p.D985Y; 19:7126644-7126644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2585T>C; p.F862S; 19:7141774-7141774 |
breast | carcinoma | Substitution - Missense |
c.560C>T; p.P187L; 19:7267437-7267437 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.561G>A; p.P187P; 19:7267436-7267436 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.623G>C; p.R208P; 19:7267374-7267374 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.559C>T; p.P187S; 19:7267438-7267438 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3454G>A; p.A1152T; 19:7122689-7122689 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1750A>G; p.K584E; 19:7166265-7166265 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2074G>A; p.E692K; 19:7152883-7152883 |
skin | malignant_melanoma | Substitution - Missense |
c.3771A>G; p.Q1257Q; 19:7119472-7119472 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3435C>T; p.D1145D; 19:7122708-7122708 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2829C>T; p.Y943Y; 19:7132171-7132171 |
bone; humerus | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.3612A>G; p.A1204A; 19:7120667-7120667 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1045G>A; p.D349N; 19:7174661-7174661 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2352C>T; p.S784S; 19:7143006-7143006 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1191C>A; p.I397I; 19:7172367-7172367 |
skin | malignant_melanoma | Substitution - coding silent |
c.1045G>A; p.D349N; 19:7174661-7174661 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2574G>C; p.T858T; 19:7141785-7141785 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.432C>T; p.V144V; 19:7267565-7267565 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2668C>T; p.R890*; 19:7141691-7141691 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.243C>T; p.L81L; 19:7267754-7267754 |
skin | malignant_melanoma | Substitution - coding silent |
c.3256G>A; p.V1086M; 19:7125285-7125285 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.525C>A; p.N175K; 19:7267472-7267472 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2696G>A; p.C899Y; 19:7132304-7132304 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.525C>A; p.N175K; 19:7267472-7267472 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1220C>T; p.S407F; 19:7172338-7172338 |
skin | malignant_melanoma | Substitution - Missense |
c.3275T>C; p.V1092A; 19:7122973-7122973 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.773T>C; p.F258S; 19:7184517-7184517 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4077C>T; p.I1359I; 19:7117128-7117128 |
skin | malignant_melanoma | Substitution - coding silent |
c.1676T>C; p.V559A; 19:7166339-7166339 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.55G>A; p.A19T; 19:7293837-7293837 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4141C>T; p.P1381S; 19:7117064-7117064 |
skin | malignant_melanoma | Substitution - Missense |
c.2587G>A; p.E863K; 19:7141772-7141772 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.739G>T; p.D247Y; 19:7184551-7184551 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.682T>C; p.C228R; 19:7184608-7184608 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.682T>C; p.C228R; 19:7184608-7184608 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.498C>T; p.S166S; 19:7267499-7267499 |
skin | malignant_melanoma | Substitution - coding silent |
c.498C>T; p.S166S; 19:7267499-7267499 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1889C>T; p.S630L; 19:7163172-7163172 |
breast | carcinoma | Substitution - Missense |
c.1679A>T; p.D560V; 19:7166336-7166336 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2327C>T; p.T776M; 19:7143031-7143031 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2361C>T; p.S787S; 19:7142997-7142997 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2967A>G; p.G989G; 19:7126630-7126630 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1508C>T; p.S503F; 19:7168070-7168070 |
skin | malignant_melanoma | Substitution - Missense |
c.3610G>T; p.A1204S; 19:7120669-7120669 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2418G>A; p.S806S; 19:7142940-7142940 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3486G>A; p.A1162A; 19:7122657-7122657 |
skin | malignant_melanoma | Substitution - coding silent |
c.3936C>T; p.P1312P; 19:7117269-7117269 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1932A>C; p.P644P; 19:7163129-7163129 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1227C>T; p.F409F; 19:7172331-7172331 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3571C>T; p.R1191W; 19:7120708-7120708 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3712C>G; p.Q1238E; 19:7119531-7119531 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3652G>C; p.D1218H; 19:7120627-7120627 |
breast | carcinoma | Substitution - Missense |
c.2360G>T; p.S787I; 19:7142998-7142998 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2677G>A; p.D893N; 19:7141682-7141682 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2389C>T; p.P797S; 19:7142969-7142969 |
skin | malignant_melanoma | Substitution - Missense |
c.653-5_653-4delTC; p.?; 19:7184641-7184642 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.1671G>T; p.T557T; 19:7166344-7166344 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3852G>T; p.L1284L; 19:7117353-7117353 |
liver | carcinoma | Substitution - coding silent |
c.1797T>C; p.F599F; 19:7166218-7166218 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1797T>C; p.F599F; 19:7166218-7166218 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3852G>T; p.L1284L; 19:7117353-7117353 |
liver | carcinoma | Substitution - coding silent |
c.2770C>T; p.R924*; 19:7132230-7132230 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Nonsense |
c.2280A>G; p.K760K; 19:7143078-7143078 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2878G>A; p.G960S; 19:7128919-7128919 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3419C>T; p.A1140V; 19:7122724-7122724 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.320C>T; p.T107M; 19:7267677-7267677 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3034G>T; p.V1012L; 19:7125507-7125507 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3936C>A; p.P1312P; 19:7117269-7117269 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.738C>T; p.P246P; 19:7184552-7184552 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.537C>T; p.N179N; 19:7267460-7267460 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1175C>T; p.S392L; 19:7172383-7172383 |
skin | malignant_melanoma | Substitution - Missense |
c.1228C>T; p.R410W; 19:7172330-7172330 |
prostate | carcinoma | Substitution - Missense |
c.2447C>T; p.T816M; 19:7142911-7142911 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4025delG; p.G1342fs*23; 19:7117180-7117180 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.520T>C; p.L174L; 19:7267477-7267477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1560G>C; p.W520C; 19:7168018-7168018 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1177G>T; p.G393W; 19:7172381-7172381 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2635G>T; p.G879C; 19:7141724-7141724 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2729G>T; p.G910V; 19:7132271-7132271 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.507T>C; p.D169D; 19:7267490-7267490 |
liver | carcinoma | Substitution - coding silent |
c.2726G>A; p.R909Q; 19:7132274-7132274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3660-7T>C; p.?; 19:7119590-7119590 |
kidney | other; neoplasm | Unknown |
c.3082G>A; p.E1028K; 19:7125459-7125459 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.606C>T; p.N202N; 19:7267391-7267391 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.814T>C; p.Y272H; 19:7184476-7184476 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1554G>A; p.P518P; 19:7168024-7168024 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4133G>A; p.R1378Q; 19:7117072-7117072 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2312C>T; p.T771M; 19:7143046-7143046 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1196G>A; p.R399Q; 19:7172362-7172362 |
skin | malignant_melanoma | Substitution - Missense |
c.1196G>A; p.R399Q; 19:7172362-7172362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1650G>A; p.A550A; 19:7166365-7166365 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2190G>A; p.K730K; 19:7152767-7152767 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1650G>A; p.A550A; 19:7166365-7166365 |
thyroid | other; neoplasm | Substitution - coding silent |
c.3896delC; p.P1299fs*66; 19:7117309-7117309 |
skin; breast | malignant_melanoma | Deletion - Frameshift |
c.1117G>A; p.G373R; 19:7174589-7174589 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2644G>A; p.V882M; 19:7141715-7141715 |
liver | carcinoma | Substitution - Missense |
c.2617G>C; p.E873Q; 19:7141742-7141742 |
breast | carcinoma | Substitution - Missense |
c.487A>G; p.I163V; 19:7267510-7267510 |
breast | carcinoma | Substitution - Missense |
c.936C>T; p.I312I; 19:7184354-7184354 |
skin | malignant_melanoma | Substitution - coding silent |
c.4019C>T; p.A1340V; 19:7117186-7117186 |
prostate | carcinoma | Substitution - Missense |
c.1556A>T; p.Y519F; 19:7168022-7168022 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1007C>T; p.P336L; 19:7174699-7174699 |
skin | malignant_melanoma | Substitution - Missense |
c.4019C>T; p.A1340V; 19:7117186-7117186 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3808C>T; p.R1270C; 19:7117397-7117397 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3808C>T; p.R1270C; 19:7117397-7117397 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3042C>T; p.D1014D; 19:7125499-7125499 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3892T>C; p.F1298L; 19:7117313-7117313 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2704C>T; p.R902C; 19:7132296-7132296 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.2387G>T; p.R796M; 19:7142971-7142971 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3618G>A; p.E1206E; 19:7120661-7120661 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.3059G>A; p.R1020Q; 19:7125482-7125482 |
skin | malignant_melanoma | Substitution - Missense |
c.2490T>C; p.P830P; 19:7142868-7142868 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2881C>T; p.P961S; 19:7128916-7128916 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1988C>G; p.A663G; 19:7163073-7163073 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1988C>G; p.A663G; 19:7163073-7163073 |
skin; ear | malignant_melanoma | Substitution - Missense |
c.1442G>T; p.R481I; 19:7170578-7170578 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2754G>A; p.P918P; 19:7132246-7132246 |
skin | malignant_melanoma | Substitution - coding silent |
c.4026C>G; p.G1342G; 19:7117179-7117179 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4026C>G; p.G1342G; 19:7117179-7117179 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3661T>G; p.S1221A; 19:7119582-7119582 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.3661T>G; p.S1221A; 19:7119582-7119582 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.467C>T; p.A156V; 19:7267530-7267530 |
pancreas | carcinoma | Substitution - Missense |
c.467C>T; p.A156V; 19:7267530-7267530 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.467C>T; p.A156V; 19:7267530-7267530 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.3382C>T; p.R1128C; 19:7122761-7122761 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3297G>A; p.T1099T; 19:7122951-7122951 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3297G>A; p.T1099T; 19:7122951-7122951 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3877G>A; p.D1293N; 19:7117328-7117328 |
skin | malignant_melanoma | Substitution - Missense |
c.1873C>A; p.P625T; 19:7163188-7163188 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3067A>G; p.I1023V; 19:7125474-7125474 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4066G>A; p.E1356K; 19:7117139-7117139 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3267C>T; p.L1089L; 19:7122981-7122981 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4100G>A; p.G1367D; 19:7117105-7117105 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.687C>A; p.T229T; 19:7184603-7184603 |
liver | carcinoma | Substitution - coding silent |
c.2018A>G; p.Y673C; 19:7163043-7163043 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2078A>G; p.D693G; 19:7152879-7152879 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2743G>A; p.G915R; 19:7132257-7132257 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3965A>G; p.E1322G; 19:7117240-7117240 |
prostate | carcinoma | Substitution - Missense |
c.3561G>A; p.T1187T; 19:7120718-7120718 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3965A>G; p.E1322G; 19:7117240-7117240 |
skin | malignant_melanoma | Substitution - Missense |
c.1129C>G; p.L377V; 19:7172429-7172429 |
breast | carcinoma | Substitution - Missense |
c.3456C>A; p.A1152A; 19:7122687-7122687 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.882G>A; p.K294K; 19:7184408-7184408 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2836G>A; p.D946N; 19:7132164-7132164 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1543A>T; p.R515*; 19:7168035-7168035 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1639G>A; p.G547R; 19:7166376-7166376 |
breast | carcinoma | Substitution - Missense |
c.2072C>G; p.S691C; 19:7152885-7152885 |
breast | carcinoma | Substitution - Missense |
c.3924G>T; p.E1308D; 19:7117281-7117281 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3030G>A; p.V1010V; 19:7125511-7125511 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1624G>A; p.V542M; 19:7166391-7166391 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1114C>T; p.R372*; 19:7174592-7174592 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1808G>A; p.R603H; 19:7166207-7166207 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2700C>T; p.V900V; 19:7132300-7132300 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.411G>A; p.M137I; 19:7267586-7267586 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1519A>G; p.T507A; 19:7168059-7168059 |
skin | malignant_melanoma | Substitution - Missense |
c.3193C>G; p.L1065V; 19:7125348-7125348 |
soft_tissue; fibrous_tissue_and_uncertain_o | gastrointestinal_stromal_tumour | Substitution - Missense |
c.688G>A; p.A230T; 19:7184602-7184602 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3255C>T; p.H1085H; 19:7125286-7125286 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.4120C>T; p.L1374L; 19:7117085-7117085 |
breast | carcinoma | Substitution - coding silent |
c.4005T>C; p.C1335C; 19:7117200-7117200 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1862-5G>C; p.?; 19:7163204-7163204 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.3159C>T; p.R1053R; 19:7125382-7125382 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3159C>T; p.R1053R; 19:7125382-7125382 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3159C>T; p.R1053R; 19:7125382-7125382 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3159C>T; p.R1053R; 19:7125382-7125382 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3136A>C; p.I1046L; 19:7125405-7125405 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1677A>T; p.V559V; 19:7166338-7166338 |
skin | malignant_melanoma | Substitution - coding silent |
c.1812G>C; p.R604R; 19:7166203-7166203 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1168G>T; p.E390*; 19:7172390-7172390 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1168G>T; p.E390*; 19:7172390-7172390 |
breast | carcinoma | Substitution - Nonsense |
c.2484C>T; p.D828D; 19:7142874-7142874 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1422A>T; p.G474G; 19:7170598-7170598 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3680G>T; p.W1227L; 19:7119563-7119563 |
skin | malignant_melanoma | Substitution - Missense |
c.1432C>T; p.R478C; 19:7170588-7170588 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3560C>T; p.T1187M; 19:7120719-7120719 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3268C>G; p.L1090V; 19:7122980-7122980 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2215G>C; p.V739L; 19:7152742-7152742 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2621C>T; p.P874L; 19:7141738-7141738 |
skin | malignant_melanoma | Substitution - Missense |
c.1630G>C; p.E544Q; 19:7166385-7166385 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1638C>T; p.D546D; 19:7166377-7166377 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1630G>C; p.E544Q; 19:7166385-7166385 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3389C>T; p.P1130L; 19:7122754-7122754 |
skin | malignant_melanoma | Substitution - Missense |
c.3853G>A; p.E1285K; 19:7117352-7117352 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3285G>A; p.K1095K; 19:7122963-7122963 |
breast | carcinoma | Substitution - coding silent |
c.1800G>A; p.S600S; 19:7166215-7166215 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3389C>T; p.P1130L; 19:7122754-7122754 |
skin | malignant_melanoma | Substitution - Missense |
c.1749C>G; p.L583L; 19:7166266-7166266 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1749C>G; p.L583L; 19:7166266-7166266 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.524A>G; p.N175S; 19:7267473-7267473 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.524A>G; p.N175S; 19:7267473-7267473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1579C>T; p.L527F; 19:7167999-7167999 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2268G>T; p.R756S; 19:7143090-7143090 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.38C>T; p.P13L; 19:7293854-7293854 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3239G>C; p.G1080A; 19:7125302-7125302 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3893T>C; p.F1298S; 19:7117312-7117312 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1051G>A; p.V351M; 19:7174655-7174655 |
skin | malignant_melanoma | Substitution - Missense |
c.1724A>G; p.H575R; 19:7166291-7166291 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3912C>T; p.F1304F; 19:7117293-7117293 |
skin | malignant_melanoma | Substitution - coding silent |