一般信息|文学|表达式|监管|变体|交互 |
基本信息 |
|
---|---|
基因身份证 |
5728年 |
的名字 |
PTEN |
同义的 |
磷酸酶和tensin同族体、PTEN、磷酸酶和tensin同系物 |
定义 |
MMAC1磷酸酶和tensin同族体删除10号染色体上线粒体PTENalpha | |线粒体蛋白质磷酸酶和tensinα1 | |突变在多个先进的癌症蛋白质磷酸酶和tensin-like |磷脂酰肌醇3、4,5-trisphosphate 3 - |
位置 |
10 q23.3 |
基因型 |
蛋白质编码 |
突变简介: |
域的突变 在17个主要癌症突变模式 LoF vs错义突变 数据库V72宇宙的所有拷贝数变化 宇宙的所有突变数据库V72 |
突变总结蛋白质域 |
前 |
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非同义(上)和(底部)同义突变比例对各种癌症 |
前 |
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损失函数的突变与错义突变 |
前 |
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丧失突变在错义突变的比例是0.50。 |
各种癌症的拷贝数变化 |
前 |
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拷贝数变化的17个主要的癌症类型:1;乳腺癌、2;中枢神经系统,3;子宫颈,4;子宫内膜,5;lymphoid_tissue造血,6;肾脏,7;大肠,8;肝脏,9;肺癌、10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
宇宙体细胞突变(最高) |
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突变(cd;AA;科) |
网站 |
组织学 |
突变类型 |
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c.125T > G;p.L42R;10:87894070 - 87894070 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.375A > C;p.K125N;10:87933134 - 87933134 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.165G > T;p.R55S;10:87925513 - 87925513 |
乳房 | 癌 | 替换-错义 |
c.375A > C;p.K125N;10:87933134 - 87933134 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.170_171insT;p.L57fs * 6;10:87925518 - 87925519 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.170_171insT;p.L57fs * 6;10:87925518 - 87925519 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.449A > G;p.E150G;10:87933208 - 87933208 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.449A > G;p.E150G;10:87933208 - 87933208 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.377C > T;p.A126V;10:87933136 - 87933136 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.165-11T > G;p。?。10:87925502 - 87925502 |
upper_aerodigestive_tract;咽 | 癌;squamous_cell_carcinoma | 未知的 |
c.125T > G;p.L42R;10:87894070 - 87894070 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.932delA;p.N311fs * 6;10:87961024 - 87961024 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.58G >;p.G20R;10:87864527 - 87864527 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.125T > G;p.L42R;10:87894070 - 87894070 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.125T > G;p.L42R;10:87894070 - 87894070 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.1017delA;p.N340fs * 4;10:87961109 - 87961109 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 删除——转移 |
c.125T > G;p.L42R;10:87894070 - 87894070 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.284C > T;p.P95L;10:87933043 - 87933043 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.732T > C;p.P244P;10:87957950 - 87957950 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-编码沉默 |
c.449A > G;p.E150G;10:87933208 - 87933208 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.284C > T;p.P95L;10:87933043 - 87933043 |
子宫内膜 | 增生;非典型的 | 替换-错义 |
c.284C > T;p.P95L;10:87933043 - 87933043 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.284C > T;p.P95L;10:87933043 - 87933043 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.490A > T;p.K164 *;10:87933249 - 87933249 |
肺 | 癌;small_cell_carcinoma | 替换-胡说 |
c.449A > G;p.E150G;10:87933208 - 87933208 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.702_703insAGGA;p.E235fs * 9;10:87957920 - 87957921 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.449A > G;p.E150G;10:87933208 - 87933208 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.377C > T;p.A126V;10:87933136 - 87933136 |
卵巢 | 癌;endometrioid_carcinoma | 替换-错义 |
c.284C > T;p.P95L;10:87933043 - 87933043 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.125T > G;p.L42R;10:87894070 - 87894070 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.170_171insT;p.L57fs * 6;10:87925518 - 87925519 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.449A > G;p.E150G;10:87933208 - 87933208 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.545T > G;p.L182 *;10:87952170 - 87952170 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.760A > T;p.K254 *;10:87957978 - 87957978 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.377C > T;p.A126V;10:87933136 - 87933136 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.491delA;p.K164fs * 3;10:87933250 - 87933250 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.48T > C;p.Y16Y;10:87864517 - 87864517 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.406T > C;p.C136R;10:87933165 - 87933165 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.491delA;p.K164fs * 3;10:87933250 - 87933250 |
前列腺癌 | 癌;腺癌 | 删除——转移 |
c.323T > G;p.L108R;10:87933082 - 87933082 |
乳房 | 癌;luminal_NS_carcinoma | 替换-错义 |
c.491delA;p.K164fs * 3;10:87933250 - 87933250 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.782_783delAG;p.N262fs * 35;10:87958000 - 87958001 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.799_800delAA;p.K267fs * 30;10:87958017 - 87958018 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.478A > G;p.T160A;10:87933237 - 87933237 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.406T > C;p.C136R;10:87933165 - 87933165 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.406T > C;p.C136R;10:87933165 - 87933165 |
皮肤 | malignant_melanoma | 替换-错义 |
c.491delA;p.K164fs * 3;10:87933250 - 87933250 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.406T > C;p.C136R;10:87933165 - 87933165 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.323T > G;p.L108R;10:87933082 - 87933082 |
乳房 | 癌 | 替换-错义 |
c.406T > C;p.C136R;10:87933165 - 87933165 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.406T > C;p.C136R;10:87933165 - 87933165 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.48T > C;p.Y16Y;10:87864517 - 87864517 |
肺 | 癌;腺癌 | 替换-编码沉默 |
c.172G > T;p.D58Y;10:87925520 - 87925520 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.638C > G;p.P213R;10:87957856 - 87957856 |
前列腺癌 | 癌 | 替换-错义 |
c.406T > C;p.C136R;10:87933165 - 87933165 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.323T > G;p.L108R;10:87933082 - 87933082 |
胰腺 | carcinoid-endocrine_tumour;islet_cell | 替换-错义 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
乳房 | 癌;basal_ _carcinoma(三阴性) | 整个基因缺失 |
c.1007_1008insA;p.Y336 *;10:87961099 - 87961100 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
卵巢 | 癌 | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
皮肤 | malignant_melanoma | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
皮肤 | malignant_melanoma | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
central_nervous_system;frontal_lobe | 神经胶质瘤;astrocytoma_Grade_IV | 整个基因缺失 |
c.487A > G;p.K163E;10:87933246 - 87933246 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
皮肤 | malignant_melanoma | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.209 + 1 delgt;p。?。10:87925558 - 87925559 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
卵巢 | 癌 | 整个基因缺失 |
c.567A > G;p.R189R;10:87952192 - 87952192 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.955_956insT;p.T319fs * 6;10:87961047 - 87961048 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.209 + 1 delgt;p。?。10:87925558 - 87925559 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
乳房 | 癌 | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
central_nervous_system;frontal_lobe | 神经胶质瘤;astrocytoma_Grade_IV | 整个基因缺失 |
c.163A > G;p.R55G;10:87894108 - 87894108 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.209 + 1 delgt;p。?。10:87925558 - 87925559 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.644T > C;p.F215S;10:87957862 - 87957862 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.644T > C;p.F215S;10:87957862 - 87957862 |
乳房 | 癌;ductal_carcinoma | 替换-错义 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
卵巢 | 癌 | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.163A > G;p.R55G;10:87894108 - 87894108 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
central_nervous_system;大脑 | 神经胶质瘤 | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
皮肤 | malignant_melanoma | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.216T > C;p.A72A;10:87931052 - 87931052 |
乳房 | 癌 | 替换-编码沉默 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.163A > G;p.R55G;10:87894108 - 87894108 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.720_721insT;p.E242fs * 1;10:87957938 - 87957939 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 插入——转移 |
c.875delA;p.N292fs * 15;10:87960967 - 87960967 |
子宫内膜 | 癌 | 删除——转移 |
c.700_701insCGCTCGAC;p.R234fs * 25;10:87957918 - 87957919 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.567A > G;p.R189R;10:87952192 - 87952192 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
前列腺癌 | 癌;腺癌 | 整个基因缺失 |
c.870delA;p.E291fs * 16;10:87960962 - 87960962 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.209 + 1 delgt;p。?。10:87925558 - 87925559 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.637C > T;p.P213S;10:87957855 - 87957855 |
皮肤 | malignant_melanoma | 替换-错义 |
c.1_1212del1212;p.0 ?;10:87864470 - 87965472 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 整个基因缺失 |
c.40delA;p.R14fs * 10;10:87864509 - 87864509 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.78C >;p.T26T;10:87864547 - 87864547 |
urinary_tract;膀胱 | 癌;transitional_cell_carcinoma | 替换-编码沉默 |
c.45A > T;p.R15S;10:87864514 - 87864514 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.418T > C;p.L140L;10:87933177 - 87933177 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.787A > T;p.K263 *;10:87958005 - 87958005 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-胡说 |
c.323T > C;p.L108P;10:87933082 - 87933082 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.787A > T;p.K263 *;10:87958005 - 87958005 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.455T > C;p.L152P;10:87933214 - 87933214 |
肺 | 癌;small_cell_carcinoma | 替换-错义 |
c.323T > C;p.L108P;10:87933082 - 87933082 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.567_571delACCAG;p.R189fs * 11;10:87952192 - 87952196 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.787A > T;p.K263 *;10:87958005 - 87958005 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.323T > C;p.L108P;10:87933082 - 87933082 |
皮肤 | malignant_melanoma | 替换-错义 |
c.209 + 1 g > C;p。?。10:87925558 - 87925558 |
central_nervous_system;大脑 | 神经胶质瘤;oligodendroglioma_Grade_III | 未知的 |
c.455T > C;p.L152P;10:87933214 - 87933214 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.45A > T;p.R15S;10:87864514 - 87864514 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.695_696insA;p.R233fs * 10;10:87957913 - 87957914 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.78C >;p.T26T;10:87864547 - 87864547 |
urinary_tract;膀胱 | 癌 | 替换-编码沉默 |
c.385G >;p.G129R;10:87933144 - 87933144 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.872A > G;p.E291G;10:87960964 - 87960964 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1026 + 2 t > G;p。?。10:87961120 - 87961120 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.376G > C;p.A126P;10:87933135 - 87933135 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.912C > T;p.C304C;10:87961004 - 87961004 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.134_135insATAC;p.R47fs * 6;10:87894079 - 87894080 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.376G > C;p.A126P;10:87933135 - 87933135 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.385G >;p.G129R;10:87933144 - 87933144 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.912C > T;p.C304C;10:87961004 - 87961004 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.385G >;p.G129R;10:87933144 - 87933144 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.60A > G;p.G20G;10:87864529 - 87864529 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.385G >;p.G129R;10:87933144 - 87933144 |
甲状腺 | 癌;papillary_carcinoma | 替换-错义 |
c.385G >;p.G129R;10:87933144 - 87933144 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.185A > G;p.K62R;10:87925533 - 87925533 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.175T > C;p.S59P;10:87925523 - 87925523 |
乳房 | 癌;ductal_carcinoma | 替换-错义 |
c.872A > G;p.E291G;10:87960964 - 87960964 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.233_234insTA;p.A79fs * 21;10:87931069 - 87931070 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.324T > C;p.L108L;10:87933083 - 87933083 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.482G >;p.R161K;10:87933241 - 87933241 |
乳房 | 癌 | 替换-错义 |
c.324T > C;p.L108L;10:87933083 - 87933083 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.324T > C;p.L108L;10:87933083 - 87933083 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.324T > C;p.L108L;10:87933083 - 87933083 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.482G >;p.R161K;10:87933241 - 87933241 |
乳房 | 增生;atypical_ductal_hyperplasia | 替换-错义 |
c.86A > C;p.Y29S;10:87894031 - 87894031 |
皮肤 | malignant_melanoma | 替换-错义 |
c.61T > C;p.F21L;10:87864530 - 87864530 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.209 + 6 t >;p。?。10:87925563 - 87925563 |
肝 | 癌;hepatocellular_carcinoma | 未知的 |
c.514delA;p.R172fs * 11;10:87952139 - 87952139 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.604delA;p.T202fs * 19;10:87952229 - 87952229 |
central_nervous_system;大脑 | 神经胶质瘤 | 删除——转移 |
c.165-9T >;p。?。10:87925504 - 87925504 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.165-9T >;p。?。10:87925504 - 87925504 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.516G >;p.R172R;10:87952141 - 87952141 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.324T > C;p.L108L;10:87933083 - 87933083 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.246T > C;p.N82N;10:87931082 - 87931082 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.478A > T;p.T160S;10:87933237 - 87933237 |
乳房 | 癌 | 替换-错义 |
c.694_695ins9;p.T232_R233insK *;10:87957912 - 87957913 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——在坐标系 |
c.56A > G;p.D19G;10:87864525 - 87864525 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.820_1023del204;p.W274_F341del;10:87960912 - 87961115 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.176C >;p.S59 *;10:87925524 - 87925524 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.176C >;p.S59 *;10:87925524 - 87925524 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.176C >;p.S59 *;10:87925524 - 87925524 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.612A > G;p.P204P;10:87952237 - 87952237 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.176C >;p.S59 *;10:87925524 - 87925524 |
乳房 | 癌 | 替换-胡说 |
c.949_966del18;p.V317_K322del;10:87961041 - 87961058 |
皮肤 | malignant_melanoma | 删除——在坐标系 |
c.989_990delAA;p.K330fs * 12;10:87961081 - 87961082 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.116C > T;p.A39V;10:87894061 - 87894061 |
胃 | 癌;腺癌 | 替换-错义 |
c.296_297insTA;p.E99fs * 15;10:87933055 - 87933056 |
子宫内膜 | 癌;腺癌 | 插入——转移 |
c.634 + 1 g >;p。?。10:87952260 - 87952260 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 未知的 |
c.634 + 1 g >;p。?。10:87952260 - 87952260 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.976_1026 + 4 del55;p.D326_K342del;10:87961068 - 87961122 |
子宫内膜 | 癌 | 删除——在坐标系 |
c.385G > T;p.G129 *;10:87933144 - 87933144 |
large_intestine;直肠 | 癌;腺癌 | 替换-胡说 |
c.1034T >;p.L345Q;10:87965294 - 87965294 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.353A > G;p.H118R;10:87933112 - 87933112 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.377C > G;p.A126G;10:87933136 - 87933136 |
乳房 | 癌 | 替换-错义 |
c.385G > T;p.G129 *;10:87933144 - 87933144 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.385G > T;p.G129 *;10:87933144 - 87933144 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.209 + 1 delgtaa;p。?。10:87925558 - 87925561 |
皮肤 | malignant_melanoma | 未知的 |
c.385G > T;p.G129 *;10:87933144 - 87933144 |
large_intestine | 癌;腺癌 | 替换-胡说 |
c.780_780delA;p.K260fs * 6;10:87957998 - 87957998 |
soft_tissue;fibrous_tissue_and_uncertain_o | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | 删除——转移 |
c.385G > T;p.G129 *;10:87933144 - 87933144 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.440A > G;p.K147R;10:87933199 - 87933199 |
甲状腺 | 癌;anaplastic_carcinoma | 替换-错义 |
c.209 + 1 delgtaa;p。?。10:87925558 - 87925561 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.1034T >;p.L345Q;10:87965294 - 87965294 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.780_780delA;p.K260fs * 6;10:87957998 - 87957998 |
soft_tissue;fibrous_tissue_and_uncertain_o | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | 删除——转移 |
c.634 + 4 > G;p。?。10:87952263 - 87952263 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.1005A > T;p.R335R;10:87961097 - 87961097 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-编码沉默 |
c.1034T >;p.L345Q;10:87965294 - 87965294 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.738_739insATAACGTG;p.L247fs * 12;10:87957956 - 87957957 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.353A > G;p.H118R;10:87933112 - 87933112 |
甲状腺 | 癌;follicular_carcinoma | 替换-错义 |
c.680C > T;p.S227F;10:87957898 - 87957898 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.952_955delCTTA;p.L318fs * 2;10:87961044 - 87961047 |
子宫内膜 | 增生 | 删除——转移 |
c.952_955delCTTA;p.L318fs * 2;10:87961044 - 87961047 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.952_955delCTTA;p.L318fs * 2;10:87961044 - 87961047 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.800_801insA;p.K267fs * 31;10:87958018 - 87958019 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.800_801insA;p.K267fs * 31;10:87958018 - 87958019 |
子宫内膜 | 癌 | 插入——转移 |
c.409G >;p.A137T;10:87933168 - 87933168 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.773T >;p.F258Y;10:87957991 - 87957991 |
乳房 | 癌 | 替换-错义 |
c.952_955delCTTA;p.L318fs * 2;10:87961044 - 87961047 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.138C >;p.Y46 *;10:87894083 - 87894083 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.952_955delCTTA;p.L318fs * 2;10:87961044 - 87961047 |
子宫内膜 | 增生 | 删除——转移 |
c.800_801insA;p.K267fs * 31;10:87958018 - 87958019 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.952_955delCTTA;p.L318fs * 2;10:87961044 - 87961047 |
子宫内膜 | 增生 | 删除——转移 |
c.800_801insA;p.K267fs * 31;10:87958018 - 87958019 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.952_955delCTTA;p.L318fs * 2;10:87961044 - 87961047 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.952_955delCTTA;p.L318fs * 2;10:87961044 - 87961047 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.800_801insA;p.K267fs * 31;10:87958018 - 87958019 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.1005_1006insA;p.R335fs * 7;10:87961097 - 87961098 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 插入——转移 |
c.533A > T;p.Y178F;10:87952158 - 87952158 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.952_955delCTTA;p.L318fs * 2;10:87961044 - 87961047 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.952_955delCTTA;p.L318fs * 2;10:87961044 - 87961047 |
子宫内膜 | 癌;mixed_adenosquamous_carcinoma | 删除——转移 |
c.952_955delCTTA;p.L318fs * 2;10:87961044 - 87961047 |
子宫内膜 | 癌;mixed_adenosquamous_carcinoma | 删除——转移 |
c.106G >;p.G36R;10:87894051 - 87894051 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.106G >;p.G36R;10:87894051 - 87894051 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.253 + 1 g > T;p。?。10:87931090 - 87931090 |
前列腺癌 | 癌 | 未知的 |
c.253 + 1 g > T;p。?。10:87931090 - 87931090 |
乳房 | 癌 | 未知的 |
c.253 + 1 g > T;p。?。10:87931090 - 87931090 |
乳房 | 癌;basal_ _carcinoma(三阴性) | 未知的 |
c.106G >;p.G36R;10:87894051 - 87894051 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.45_46insGA;p.R15fs * 9;10:87864514 - 87864515 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.106G >;p.G36R;10:87894051 - 87894051 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.208C >;p.L70I;10:87925556 - 87925556 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.253 + 1 g > T;p。?。10:87931090 - 87931090 |
乳房 | 癌 | 未知的 |
c.217_218delGA;p.E73fs * 4;10:87931053 - 87931054 |
乳房 | 癌 | 删除——转移 |
c.106G >;p.G36R;10:87894051 - 87894051 |
soft_tissue;fibrous_tissue_and_uncertain_o | synovial_sarcoma | 替换-错义 |
c.106G >;p.G36R;10:87894051 - 87894051 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.513G > C;p.Q171H;10:87952138 - 87952138 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.257C > T;p.A86V;10:87933016 - 87933016 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.796_797insAAAAG;p.D268fs * 10;10:87958014 - 87958015 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.987_996del10;p.N329fs * 12;10:87961079 - 87961088 |
乳房 | 癌;ductal_carcinoma | 删除——转移 |
c.825_825delA;p.N276fs * 15;10:87960917 - 87960917 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.182A > C;p.H61P;10:87925530 - 87925530 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.272A > G;p.E91G;10:87933031 - 87933031 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.357delT;p.V119fs * 15;10:87933116 - 87933116 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.741_742insA;p.P248fs * 5;10:87957959 - 87957960 |
卵巢 | 癌 | 插入——转移 |
c.741_742insA;p.P248fs * 5;10:87957959 - 87957960 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.741_742insA;p.P248fs * 5;10:87957959 - 87957960 |
central_nervous_system;大脑 | 神经胶质瘤 | 插入——转移 |
c.465_466insG;p.E157fs * 23;10:87933224 - 87933225 |
large_intestine;结肠 | 癌;腺癌 | 插入——转移 |
c.741_742insA;p.P248fs * 5;10:87957959 - 87957960 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.530A > T;p.Y177F;10:87952155 - 87952155 |
皮肤 | malignant_melanoma | 替换-错义 |
c.530A > T;p.Y177F;10:87952155 - 87952155 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.80-1G > C;p。?。10:87894024 - 87894024 |
肺 | 癌;squamous_cell_carcinoma | 未知的 |
c.254-24T > G;p。?。10:87932989 - 87932989 |
胃 | 癌;腺癌 | 未知的 |
c.741_742insA;p.P248fs * 5;10:87957959 - 87957960 |
卵巢 | 癌;endometrioid_carcinoma | 插入——转移 |
c.532delT;p.Y178fs * 5;10:87952157 - 87952157 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.32G >;p.R11K;10:87864501 - 87864501 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.287C > T;p.P96L;10:87933046 - 87933046 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.871G > T;p.E291 *;10:87960963 - 87960963 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.741_742insA;p.P248fs * 5;10:87957959 - 87957960 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.741_742insA;p.P248fs * 5;10:87957959 - 87957960 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.287C > T;p.P96L;10:87933046 - 87933046 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.287C > T;p.P96L;10:87933046 - 87933046 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.871G > T;p.E291 *;10:87960963 - 87960963 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.741_742insA;p.P248fs * 5;10:87957959 - 87957960 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.741_742insA;p.P248fs * 5;10:87957959 - 87957960 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.287C > T;p.P96L;10:87933046 - 87933046 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.530A > T;p.Y177F;10:87952155 - 87952155 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.741_742insA;p.P248fs * 5;10:87957959 - 87957960 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.741_742insA;p.P248fs * 5;10:87957959 - 87957960 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.357delT;p.V119fs * 15;10:87933116 - 87933116 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.287C > T;p.P96L;10:87933046 - 87933046 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.741_742insA;p.P248fs * 5;10:87957959 - 87957960 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.93C > T;p.N31N;10:87894038 - 87894038 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.871G > T;p.E291 *;10:87960963 - 87960963 |
large_intestine;盲肠 | 癌;腺癌 | 替换-胡说 |
c.922delC;p.R308fs * 9;10:87961014 - 87961014 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.741_742insA;p.P248fs * 5;10:87957959 - 87957960 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;hairy_cell_leukaemia | 插入——转移 |
c.705_706ins10;p.D236fs * 10;10:87957923 - 87957924 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.733C > T;p.Q245 *;10:87957951 - 87957951 |
肺 | 癌;non_small_cell_carcinoma | 替换-胡说 |
c.565A > T;p.R189 *;10:87952190 - 87952190 |
central_nervous_system;大脑 | 神经胶质瘤;gliosarcoma | 替换-胡说 |
c.1150G >;p.D384N;10:87965410 - 87965410 |
肺 | 癌;腺癌 | 替换-错义 |
c.733C > T;p.Q245 *;10:87957951 - 87957951 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.733C > T;p.Q245 *;10:87957951 - 87957951 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.733C > T;p.Q245 *;10:87957951 - 87957951 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.405_406insA;p.I135fs * 44;10:87933164 - 87933165 |
子宫内膜 | 癌 | 插入——转移 |
c.733C > T;p.Q245 *;10:87957951 - 87957951 |
子宫内膜 | 癌;腺癌 | 替换-胡说 |
c.733C > T;p.Q245 *;10:87957951 - 87957951 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.1 - 156 c > T;p。?。10:87864314 - 87864314 |
upper_aerodigestive_tract;喉 | 癌;squamous_cell_carcinoma | 未知的 |
c.733C > T;p.Q245 *;10:87957951 - 87957951 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.405_406insA;p.I135fs * 44;10:87933164 - 87933165 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.405_406insA;p.I135fs * 44;10:87933164 - 87933165 |
骨;extraskeletal | 软骨肉瘤;黏液状的 | 插入——转移 |
c.733C > T;p.Q245 *;10:87957951 - 87957951 |
urinary_tract;膀胱 | 癌 | 替换-胡说 |
c.733C > T;p.Q245 *;10:87957951 - 87957951 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.954_958delTACTT;p.T319fs * 4;10:87961046 - 87961050 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.801_802ins ?;p.K267_D268ins ?;10:87958019 - 87958020 |
子宫内膜 | 癌;mixed_adenosquamous_carcinoma | 插入——在坐标系 |
c.165_1212del1048;p.R55fs * 1;10:87925513 - 87965472 |
前列腺癌 | 癌;腺癌 | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.367C > T;p.H123Y;10:87933126 - 87933126 |
卵巢 | 癌;serous_carcinoma | 替换-错义 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌 | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
皮肤 | malignant_melanoma | 删除——转移 |
c.76A > C;p.T26P;10:87864545 - 87864545 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.68T > G;p.L23 *;10:87864537 - 87864537 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
乳房 | 癌 | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.687A > G;p.S229S;10:87957905 - 87957905 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.1016C > T;p.P339L;10:87961108 - 87961108 |
肺 | 癌;腺癌 | 替换-错义 |
c.200T > G;p.I67R;10:87925548 - 87925548 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.577_579delCTG;p.L193del;10:87952202 - 87952204 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.1016C > T;p.P339L;10:87961108 - 87961108 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.378T > C;p.A126A;10:87933137 - 87933137 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.539A > G;p.Y180C;10:87952164 - 87952164 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌 | 删除——转移 |
c.1016C > T;p.P339L;10:87961108 - 87961108 |
皮肤 | malignant_melanoma | 替换-错义 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
皮肤 | malignant_melanoma | 删除——转移 |
c.441_444delGGCA;p.K147fs * 5;10:87933200 - 87933203 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.367C > T;p.H123Y;10:87933126 - 87933126 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌 | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
皮肤 | malignant_melanoma | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
乳房 | 癌 | 删除——转移 |
c.286C > G;p.P96A;10:87933045 - 87933045 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
乳房 | 癌;ductal_carcinoma | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
皮肤 | malignant_melanoma | 删除——转移 |
c.367C > T;p.H123Y;10:87933126 - 87933126 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
皮肤 | malignant_melanoma | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.269T > G;p.F90C;10:87933028 - 87933028 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.470_473delAAGT;p.V158fs * 8;10:87933229 - 87933232 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.76A > C;p.T26P;10:87864545 - 87864545 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.367C > T;p.H123Y;10:87933126 - 87933126 |
肺 | 癌;腺癌 | 替换-错义 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
乳房 | 癌 | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.378T > C;p.A126A;10:87933137 - 87933137 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
肺 | 癌;腺癌 | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
皮肤 | malignant_melanoma | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.367C > T;p.H123Y;10:87933126 - 87933126 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.125T > C;p.L42P;10:87894070 - 87894070 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
皮肤 | malignant_melanoma | 删除——转移 |
c.367C > T;p.H123Y;10:87933126 - 87933126 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
soft_tissue;fibrous_tissue_and_uncertain_o | 肉瘤 | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
前列腺癌 | 癌;腺癌 | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌 | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.367C > T;p.H123Y;10:87933126 - 87933126 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.950_953delTACT;p.T319fs * 1;10:87961042 - 87961045 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.270delT;p.F90fs * 9;10:87933029 - 87933029 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.315T > G;p.C105W;10:87933074 - 87933074 |
乳房 | 癌 | 替换-错义 |
c.740T >;p.L247 *;10:87957958 - 87957958 |
子宫内膜 | 增生;complex-atypical | 替换-胡说 |
c.564T >;p.Y188 *;10:87952189 - 87952189 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;Burkitt_lymphoma | 替换-胡说 |
c.711delG;p.K237fs * 19;10:87957929 - 87957929 |
肺 | 癌;small_cell_carcinoma | 删除——转移 |
c.254-7delA;p。?。10:87933006 - 87933006 |
胃 | 癌;腺癌 | 未知的 |
c.469G >;p.E157K;10:87933228 - 87933228 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.820T > C;p.W274R;10:87960912 - 87960912 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.737_738insTGACC;p.L247fs * 11;10:87957955 - 87957956 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.531T > C;p.Y177Y;10:87952156 - 87952156 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.315T > G;p.C105W;10:87933074 - 87933074 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.315T > G;p.C105W;10:87933074 - 87933074 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.53A > G;p.E18G;10:87864522 - 87864522 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.315T > G;p.C105W;10:87933074 - 87933074 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.749_750insGCCCT;p.C250fs * 8;10:87957967 - 87957968 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.213delT;p.C71fs * 28;10:87931049 - 87931049 |
卵巢 | 癌;endometrioid_carcinoma | 删除——转移 |
c.281A > G;p.N94S;10:87933040 - 87933040 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.70G >;p.D24N;10:87864539 - 87864539 |
乳房 | 癌 | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
卵巢 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌 | 替换-错义 |
c.1040_1041delTC;p.F347fs * 13;10:87965300 - 87965301 |
子宫内膜 | 癌 | 删除——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.70G >;p.D24N;10:87864539 - 87864539 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
卵巢 | low_malignant_potential_(边缘)_tumour;endometrioid | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌 | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌 | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.737_738insTA;p.L247fs * 10;10:87957955 - 87957956 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.492G > T;p.K164N;10:87933251 - 87933251 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1040_1041delTC;p.F347fs * 13;10:87965300 - 87965301 |
子宫内膜 | 癌 | 删除——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.46_47insT;p.Y16fs * 28;10:87864515 - 87864516 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1040_1041delTC;p.F347fs * 13;10:87965300 - 87965301 |
子宫内膜 | 癌 | 删除——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.165-13G >;p。?。10:87925500 - 87925500 |
皮肤 | malignant_melanoma | 未知的 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.707_708insG;p.D236fs * 7;10:87957925 - 87957926 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;carcinosarcoma-malignant_mesodermal_mixed_tumour | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
肺 | 癌;small_cell_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
卵巢 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.70G >;p.D24N;10:87864539 - 87864539 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌 | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.7_9GCC TT >;p.A3fs * 21;10:87864476 - 87864478 |
子宫内膜 | endometrial_intraepithelial_neoplasia | 复杂——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.764T > G;p.V255G;10:87957982 - 87957982 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.281A > G;p.N94S;10:87933040 - 87933040 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.46_47insT;p.Y16fs * 28;10:87864515 - 87864516 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌 | 替换-错义 |
c.7_9GCC TT >;p.A3fs * 21;10:87864476 - 87864478 |
子宫内膜 | endometrial_intraepithelial_neoplasia | 复杂——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
肺 | 癌;腺癌 | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;mixed_serous_and_endometrioid_and_clear_cell_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1040_1041delTC;p.F347fs * 13;10:87965300 - 87965301 |
子宫内膜 | 癌 | 删除——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1040_1041delTC;p.F347fs * 13;10:87965300 - 87965301 |
子宫内膜 | 癌 | 删除——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1040_1041delTC;p.F347fs * 13;10:87965300 - 87965301 |
子宫内膜 | 癌 | 删除——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌 | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌 | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.170delT;p.L57fs * 42;10:87925518 - 87925518 |
脑膜 | 脑膜瘤;未分化 | 删除——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.737_738insGGGCCC;p.P246_L247insGP;10:87957955 - 87957956 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——在坐标系 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌 | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 增生;complex-atypical | 替换-错义 |
c.46_47insT;p.Y16fs * 28;10:87864515 - 87864516 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;mixed_adenosquamous_carcinoma | 替换-错义 |
c.388C > G;p.R130G;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.213_256del44;p.C71fs * 6;10:87931049 - 87933015 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.562_576 > C;p.Y188fs * 9;10:87952187 - 87952201 |
子宫内膜 | 癌;endometrioid_carcinoma | 复杂——转移 |
c.635-2_645delAGATCCTCAGTTT;p。?。10:87957851 - 87957863 |
皮肤;回来 | malignant_melanoma | 未知的 |
c.493-1G >;p。?。10:87952117 - 87952117 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.697_700CGAC > TGCAGTGGTCA;p.R233fs * 12;10:87957915 - 87957918 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 复杂——转移 |
c.493-1G >;p。?。10:87952117 - 87952117 |
large_intestine;直肠 | 癌;腺癌 | 未知的 |
c.448G > C;p.E150Q;10:87933207 - 87933207 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.860C > G;p.S287 *;10:87960952 - 87960952 |
乳房 | 癌 | 替换-胡说 |
c.493-1G >;p。?。10:87952117 - 87952117 |
前列腺癌 | 癌 | 未知的 |
c.860C > G;p.S287 *;10:87960952 - 87960952 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.493-1G >;p。?。10:87952117 - 87952117 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.268T > C;p.F90L;10:87933027 - 87933027 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.940_941insG;p.E314fs * 11;10:87961032 - 87961033 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.635 - 91 g > C;p。?。10:87957762 - 87957762 |
胃 | 癌;腺癌 | 未知的 |
c.361G > C;p.A121P;10:87933120 - 87933120 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.700_701ins10;p.R234fs * 4;10:87957918 - 87957919 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.860C > G;p.S287 *;10:87960952 - 87960952 |
乳房 | 癌 | 替换-胡说 |
c.361G > C;p.A121P;10:87933120 - 87933120 |
乳房 | 癌 | 替换-错义 |
c.493-1G >;p。?。10:87952117 - 87952117 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.361G > C;p.A121P;10:87933120 - 87933120 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.520T > G;p.Y174D;10:87952145 - 87952145 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.830C > T;p.T277I;10:87960922 - 87960922 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.987_990delTAAA;p.N329fs * 14;10:87961079 - 87961082 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.487A > T;p.K163 *;10:87933246 - 87933246 |
前列腺癌 | 癌 | 替换-胡说 |
c.520T >;p.Y174N;10:87952145 - 87952145 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.210-52delT;p。?。10:87930994 - 87930994 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm | 未知的 |
c.830C > T;p.T277I;10:87960922 - 87960922 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.447_447delA;p.E150fs * 3;10:87933206 - 87933206 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.987_990delTAAA;p.N329fs * 14;10:87961079 - 87961082 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.694_706del13;p.R233fs * 19;10:87957912 - 87957924 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 删除——转移 |
c.487A > T;p.K163 *;10:87933246 - 87933246 |
子宫内膜 | 癌;carcinosarcoma-malignant_mesodermal_mixed_tumour | 替换-胡说 |
c.520T > G;p.Y174D;10:87952145 - 87952145 |
皮肤 | malignant_melanoma | 替换-错义 |
c.1004_1007delGATA;p.R335fs * 8;10:87961096 - 87961099 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.164 + 2 t > C;p。?。10:87894111 - 87894111 |
胃 | 癌;腺癌 | 未知的 |
c.520T > G;p.Y174D;10:87952145 - 87952145 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.210-52delT;p。?。10:87930994 - 87930994 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm | 未知的 |
c.400A > G;p.M134V;10:87933159 - 87933159 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.850G >;p.E284K;10:87960942 - 87960942 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1067_1067delA;p.N356fs * 10;10:87965327 - 87965327 |
子宫颈 | 癌;squamous_cell_carcinoma | 删除——转移 |
c.17A > T;p.K6I;10:87864486 - 87864486 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.801 + 2 t > C;p。?。10:87958021 - 87958021 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.987_990delTAAA;p.N329fs * 14;10:87961079 - 87961082 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.830C > T;p.T277I;10:87960922 - 87960922 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.830C > T;p.T277I;10:87960922 - 87960922 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.412T > G;p.Y138D;10:87933171 - 87933171 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.347A > G;p.D116G;10:87933106 - 87933106 |
甲状腺 | 癌;anaplastic_carcinoma | 替换-错义 |
c.827A > G;p.N276S;10:87960919 - 87960919 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.295G > T;p.E99 *;10:87933054 - 87933054 |
子宫内膜 | 癌 | 替换-胡说 |
c.347A > G;p.D116G;10:87933106 - 87933106 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.276_291del16;p.H93fs * 1;10:87933035 - 87933050 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.347A > G;p.D116G;10:87933106 - 87933106 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.258delA;p.Q87fs * 12;10:87933017 - 87933017 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.295G > T;p.E99 *;10:87933054 - 87933054 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-胡说 |
c.646G >;p.V216M;10:87957864 - 87957864 |
子宫内膜 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.347A > G;p.D116G;10:87933106 - 87933106 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.347A > G;p.D116G;10:87933106 - 87933106 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.384G > C;p.K128N;10:87933143 - 87933143 |
前列腺癌 | 癌 | 替换-错义 |
c.646G >;p.V216M;10:87957864 - 87957864 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.384G > C;p.K128N;10:87933143 - 87933143 |
乳房 | 癌 | 替换-错义 |
c.295G > T;p.E99 *;10:87933054 - 87933054 |
large_intestine | 癌;腺癌 | 替换-胡说 |
c.347A > G;p.D116G;10:87933106 - 87933106 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.347A > G;p.D116G;10:87933106 - 87933106 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.366T > C;p.I122I;10:87933125 - 87933125 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.1013C > T;p.S338F;10:87961105 - 87961105 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.366T > C;p.I122I;10:87933125 - 87933125 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.1194A > G;p.T398T;10:87965454 - 87965454 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.1-9C > G;p。?。10:87864461 - 87864461 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.1131_1134delTAGA;p.R378fs * > 25;10:87965391 - 87965394 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.2T > C;p.M1T;10:87864471 - 87864471 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1035G >;p.L345L;10:87965295 - 87965295 |
upper_aerodigestive_tract;口 | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.1035G >;p.L345L;10:87965295 - 87965295 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.783_784delGA;p.N262fs * 35;10:87958001 - 87958002 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.1-9C > G;p。?。10:87864461 - 87864461 |
子宫颈 | 癌 | 未知的 |
c.408T > C;p.C136C;10:87933167 - 87933167 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.416T > G;p.L139 *;10:87933175 - 87933175 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.895G > T;p.E299 *;10:87960987 - 87960987 |
large_intestine;直肠 | 癌;腺癌 | 替换-胡说 |
c.919G >;p.E307K;10:87961011 - 87961011 |
乳房 | 癌;luminal_NS_carcinoma | 替换-错义 |
c.2T > C;p.M1T;10:87864471 - 87864471 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.895G > T;p.E299 *;10:87960987 - 87960987 |
子宫内膜 | 癌;腺癌 | 替换-胡说 |
c.45_46insT;p.R15fs * 28;10:87864514 - 87864515 |
乳房 | 癌 | 插入——转移 |
c.416T > G;p.L139 *;10:87933175 - 87933175 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.895G > T;p.E299 *;10:87960987 - 87960987 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-胡说 |
c.895G > T;p.E299 *;10:87960987 - 87960987 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.895G > T;p.E299 *;10:87960987 - 87960987 |
large_intestine | 癌;腺癌 | 替换-胡说 |
c.895G > T;p.E299 *;10:87960987 - 87960987 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1-9C > G;p。?。10:87864461 - 87864461 |
子宫颈 | 癌 | 未知的 |
c.624C > T;p.G208G;10:87952249 - 87952249 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-编码沉默 |
c.1-9C > G;p。?。10:87864461 - 87864461 |
子宫颈 | 癌 | 未知的 |
c.1-9C > G;p。?。10:87864461 - 87864461 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.2T > C;p.M1T;10:87864471 - 87864471 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.919G >;p.E307K;10:87961011 - 87961011 |
乳房 | 癌 | 替换-错义 |
c.895G > T;p.E299 *;10:87960987 - 87960987 |
large_intestine;直肠 | 癌;腺癌 | 替换-胡说 |
c.895G > T;p.E299 *;10:87960987 - 87960987 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.919G >;p.E307K;10:87961011 - 87961011 |
乳房 | 癌;ductal_carcinoma | 替换-错义 |
c.2T > C;p.M1T;10:87864471 - 87864471 |
食道;lower_third | 癌;腺癌 | 替换-错义 |
c.895G > T;p.E299 *;10:87960987 - 87960987 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.700_701CG > AACCCCC;p.R234fs * 24;10:87957918 - 87957919 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 复杂——转移 |
c.1-9C > G;p。?。10:87864461 - 87864461 |
子宫颈 | 癌 | 未知的 |
c.895G > T;p.E299 *;10:87960987 - 87960987 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.1194A > G;p.T398T;10:87965454 - 87965454 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.165-2delA;p。?。10:87925511 - 87925511 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.2T > C;p.M1T;10:87864471 - 87864471 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1194A > G;p.T398T;10:87965454 - 87965454 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.45_46insT;p.R15fs * 28;10:87864514 - 87864515 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.416T > G;p.L139 *;10:87933175 - 87933175 |
子宫内膜 | 增生 | 替换-胡说 |
c.895G > T;p.E299 *;10:87960987 - 87960987 |
子宫内膜 | 癌;腺癌 | 替换-胡说 |
c.895G > T;p.E299 *;10:87960987 - 87960987 |
large_intestine;直肠 | 癌;腺癌 | 替换-胡说 |
c.416T > G;p.L139 *;10:87933175 - 87933175 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.619delA;p.S207fs * 14;10:87952244 - 87952244 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.416T > G;p.L139 *;10:87933175 - 87933175 |
子宫内膜 | 癌 | 替换-胡说 |
c.477G > T;p.R159S;10:87933236 - 87933236 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.705_706insC;p.D236fs * 7;10:87957923 - 87957924 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.477G > T;p.R159S;10:87933236 - 87933236 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.863delA;p.E288fs * 3;10:87960955 - 87960955 |
胰腺 | 癌;acinar_carcinoma | 删除——转移 |
c.863delA;p.E288fs * 3;10:87960955 - 87960955 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.635-1G >;p。?。10:87957852 - 87957852 |
large_intestine;盲肠 | 癌;腺癌 | 未知的 |
c.1196_1212 + 28 del45;p.Q399fs * 48;10:87965456 - 87965472 |
NS | malignant_melanoma | 不间断的扩展 |
c.473_474insT;p.V158fs * 22;10:87933232 - 87933233 |
前列腺癌 | 癌;腺癌 | 插入——转移 |
c.165-1G > T;p。?。10:87925512 - 87925512 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.392C >;p.T131N;10:87933151 - 87933151 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.863delA;p.E288fs * 3;10:87960955 - 87960955 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.334C > G;p.L112V;10:87933093 - 87933093 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.209 + 5 g >;p。?。10:87925562 - 87925562 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.332G >;p.W111 *;10:87933091 - 87933091 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.209 + 5 g >;p。?。10:87925562 - 87925562 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.334C > G;p.L112V;10:87933093 - 87933093 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.477G > T;p.R159S;10:87933236 - 87933236 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.332G >;p.W111 *;10:87933091 - 87933091 |
肺 | 癌;腺癌 | 替换-胡说 |
c.303_304ins38;p.I101fs * 10;10:87933062 - 87933063 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.392C >;p.T131N;10:87933151 - 87933151 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.334C > G;p.L112V;10:87933093 - 87933093 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.493G > T;p.G165 *;10:87952118 - 87952118 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.165-1G > T;p。?。10:87925512 - 87925512 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.309_319del11;p.P103fs * 3;10:87933068 - 87933078 |
子宫内膜 | 增生;典型的 | 删除——转移 |
c.878_879delGA;p.G293fs * 4;10:87960970 - 87960971 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.477G > T;p.R159S;10:87933236 - 87933236 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.863delA;p.E288fs * 3;10:87960955 - 87960955 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.209 + 5 g >;p。?。10:87925562 - 87925562 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.477G > T;p.R159S;10:87933236 - 87933236 |
骨;股骨 | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | 替换-错义 |
c.863delA;p.E288fs * 3;10:87960955 - 87960955 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.1030delA;p.K344fs * 8;10:87965290 - 87965290 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.8C > T;p.A3V;10:87864477 - 87864477 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.334C > G;p.L112V;10:87933093 - 87933093 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.70G > C;p.D24H;10:87864539 - 87864539 |
肝 | 癌;hepatocellular_carcinoma | 替换-错义 |
c.984_987delAAAT;p.A328fs * 15;10:87961076 - 87961079 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.635-1G >;p。?。10:87957852 - 87957852 |
子宫颈 | 癌;squamous_cell_carcinoma | 未知的 |
c.70G > C;p.D24H;10:87864539 - 87864539 |
肝 | 癌 | 替换-错义 |
c.863delA;p.E288fs * 3;10:87960955 - 87960955 |
食道;lower_third | 癌;腺癌 | 删除——转移 |
c.635-1G >;p。?。10:87957852 - 87957852 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.984_987delAAAT;p.A328fs * 15;10:87961076 - 87961079 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.477G > T;p.R159S;10:87933236 - 87933236 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.209 + 5 g >;p。?。10:87925562 - 87925562 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.477G > T;p.R159S;10:87933236 - 87933236 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.863delA;p.E288fs * 3;10:87960955 - 87960955 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.254T > G;p.V85G;10:87933013 - 87933013 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.863delA;p.E288fs * 3;10:87960955 - 87960955 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.635-1G >;p。?。10:87957852 - 87957852 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.477G > T;p.R159S;10:87933236 - 87933236 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.209 + 5 g >;p。?。10:87925562 - 87925562 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.209 + 5 g >;p。?。10:87925562 - 87925562 |
肺 | 癌;small_cell_carcinoma | 未知的 |
c.477G > T;p.R159S;10:87933236 - 87933236 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.510_515delTCAGAG;p.S170_Q171del;10:87952135 - 87952140 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.332G >;p.W111 *;10:87933091 - 87933091 |
乳房 | 癌;basal_ _carcinoma(三阴性) | 替换-胡说 |
c.350A > G;p.N117S;10:87933109 - 87933109 |
肺 | 癌;腺癌 | 替换-错义 |
c.653G > T;p.C218F;10:87957871 - 87957871 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.334C > G;p.L112V;10:87933093 - 87933093 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.796A > T;p.K266 *;10:87958014 - 87958014 |
乳房 | 癌 | 替换-胡说 |
c.512A > C;p.Q171P;10:87952137 - 87952137 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.512A > C;p.Q171P;10:87952137 - 87952137 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.802-3delT;p。?。10:87960891 - 87960891 |
子宫颈 | 癌 | 未知的 |
c.433T >;p.F145I;10:87933192 - 87933192 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.267_267delT;p.F90fs * 9;10:87933026 - 87933026 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.286C > T;p.P96S;10:87933045 - 87933045 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.336_340delAAGTG;p.L112fs * 3;10:87933095 - 87933099 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.286C > T;p.P96S;10:87933045 - 87933045 |
肺 | 癌;腺癌 | 替换-错义 |
c.54_55delGG;p.D19fs * 24;10:87864523 - 87864524 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.802-3delT;p。?。10:87960891 - 87960891 |
子宫颈 | 癌 | 未知的 |
c.286C > T;p.P96S;10:87933045 - 87933045 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.400A > T;p.M134L;10:87933159 - 87933159 |
子宫内膜 | 癌 | 替换-错义 |
c.796A > T;p.K266 *;10:87958014 - 87958014 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.267_267delT;p.F90fs * 9;10:87933026 - 87933026 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.136T > G;p.Y46D;10:87894081 - 87894081 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.730C > T;p.P244S;10:87957948 - 87957948 |
皮肤;肩膀 | malignant_melanoma;结节性 | 替换-错义 |
c.67T > G;p.L23V;10:87864536 - 87864536 |
子宫内膜 | 癌;serous_carcinoma | 替换-错义 |
c.400A > T;p.M134L;10:87933159 - 87933159 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.634 + 5 g > T;p。?。10:87952264 - 87952264 |
皮肤 | malignant_melanoma | 未知的 |
c.638delC;p.P213fs * 4;10:87957856 - 87957856 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.634 + 5 g > T;p。?。10:87952264 - 87952264 |
皮肤 | malignant_melanoma | 未知的 |
c.634_634 + 3 delagta;p。?。10:87952259 - 87952262 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.64_70delGACTTAG;p.D22fs * 2;10:87864533 - 87864539 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.134_135insCA;p.V45fs * 10;10:87894079 - 87894080 |
子宫内膜 | 癌;腺癌 | 插入——转移 |
c.634 + 5 g > T;p。?。10:87952264 - 87952264 |
皮肤 | malignant_melanoma | 未知的 |
c.262T > C;p.Y88H;10:87933021 - 87933021 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.850G > T;p.E284 *;10:87960942 - 87960942 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.396T > C;p.G132G;10:87933155 - 87933155 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.850G > T;p.E284 *;10:87960942 - 87960942 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.46_47insA;p.Y16fs * 1;10:87864515 - 87864516 |
乳房 | 癌 | 插入——转移 |
c.396T > C;p.G132G;10:87933155 - 87933155 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.801 + 25 C >;p。?。10:87958044 - 87958044 |
upper_aerodigestive_tract;喉 | 癌;squamous_cell_carcinoma | 未知的 |
c.39_65del27;p.R14_D22del;10:87864508 - 87864534 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.634 + 11 g >;p。?。10:87952270 - 87952270 |
皮肤 | malignant_melanoma;superficial_spreading | 未知的 |
c.262T > C;p.Y88H;10:87933021 - 87933021 |
的眼睛;uveal_tract | malignant_melanoma | 替换-错义 |
c.635-12T > G;p。?。10:87957841 - 87957841 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.640C > T;p.Q214 *;10:87957858 - 87957858 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.517delC;p.R173fs * 10;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.195C >;p.Y65 *;10:87925543 - 87925543 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.640C > T;p.Q214 *;10:87957858 - 87957858 |
皮肤;lower_leg | malignant_melanoma | 替换-胡说 |
c.640C > T;p.Q214 *;10:87957858 - 87957858 |
肺 | 癌;腺癌 | 替换-胡说 |
c.75_78delGACC;p.L25fs * 28;10:87864544 - 87864547 |
子宫内膜 | 癌 | 删除——转移 |
c.640C > T;p.Q214 *;10:87957858 - 87957858 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.195C >;p.Y65 *;10:87925543 - 87925543 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.640C > T;p.Q214 *;10:87957858 - 87957858 |
子宫内膜 | 癌 | 替换-胡说 |
c.195C >;p.Y65 *;10:87925543 - 87925543 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.640C > T;p.Q214 *;10:87957858 - 87957858 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.16_17delAA;p.K6fs * 4;10:87864485 - 87864486 |
前列腺癌 | 癌;腺癌 | 删除——转移 |
c.16_17delAA;p.K6fs * 4;10:87864485 - 87864486 |
large_intestine;盲肠 | 癌;腺癌 | 删除——转移 |
c.48T > G;p.Y16 *;10:87864517 - 87864517 |
胃 | 腺癌 | 替换-胡说 |
c.16_17delAA;p.K6fs * 4;10:87864485 - 87864486 |
前列腺癌 | 癌;腺癌 | 删除——转移 |
c.640C > T;p.Q214 *;10:87957858 - 87957858 |
子宫颈 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.640C > T;p.Q214 *;10:87957858 - 87957858 |
子宫内膜 | 癌 | 替换-胡说 |
c.195C >;p.Y65 *;10:87925543 - 87925543 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.640C > T;p.Q214 *;10:87957858 - 87957858 |
子宫内膜 | 癌;mixed_adenosquamous_carcinoma | 替换-胡说 |
c.923G >;p.R308H;10:87961015 - 87961015 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.640C > T;p.Q214 *;10:87957858 - 87957858 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.640C > T;p.Q214 *;10:87957858 - 87957858 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.517delC;p.R173fs * 10;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.640C > T;p.Q214 *;10:87957858 - 87957858 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.219_220delAA;p.E73fs * 4;10:87931055 - 87931056 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.48T > G;p.Y16 *;10:87864517 - 87864517 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.188delA;p.N63fs * 36;10:87925536 - 87925536 |
子宫内膜 | 增生;非典型的 | 删除——转移 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
large_intestine;直肠 | 癌;腺癌 | 删除——转移 |
c.70G > T;p.D24Y;10:87864539 - 87864539 |
urinary_tract;膀胱 | 癌;transitional_cell_carcinoma | 替换-错义 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
large_intestine;盲肠 | 癌;腺癌 | 删除——转移 |
c.1038_1053del16;p.Y346fs * 1;10:87965298 - 87965313 |
子宫颈 | 癌;endocervical_adenocarcinoma | 删除——转移 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.698G >;p.R233Q;10:87957916 - 87957916 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
卵巢 | 癌;endometrioid_carcinoma | 删除——转移 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.437delT;p.L146fs * 1;10:87933196 - 87933196 |
子宫内膜 | 增生;complex-atypical | 删除——转移 |
c.107delG;p.G36fs * 18;10:87894052 - 87894052 |
前列腺癌 | 癌;腺癌 | 复杂——转移 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
子宫内膜 | 癌 | 删除——转移 |
c.188delA;p.N63fs * 36;10:87925536 - 87925536 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.69A > C;p.L23F;10:87864538 - 87864538 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.70G > T;p.D24Y;10:87864539 - 87864539 |
卵巢 | 癌 | 替换-错义 |
c.69A > C;p.L23F;10:87864538 - 87864538 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
胃 | 腺癌 | 删除——转移 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
子宫内膜 | 癌 | 删除——转移 |
c.70G > T;p.D24Y;10:87864539 - 87864539 |
子宫内膜 | 癌;mixed_cell_carcinoma | 替换-错义 |
c.188delA;p.N63fs * 36;10:87925536 - 87925536 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.70G > T;p.D24Y;10:87864539 - 87864539 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.69A > C;p.L23F;10:87864538 - 87864538 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.188delA;p.N63fs * 36;10:87925536 - 87925536 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.963delA;p.T321fs * 23;10:87961055 - 87961055 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.543_544insT;p.L182fs * 8;10:87952168 - 87952169 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.635-17T > G;p。?。10:87957836 - 87957836 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.403A > G;p.I135V;10:87933162 - 87933162 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.275A > G;p.D92G;10:87933034 - 87933034 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.491_492insA;p.K164fs * 16;10:87933250 - 87933251 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.922C > T;p.R308C;10:87961014 - 87961014 |
的眼睛;uveal_tract | malignant_melanoma | 替换-错义 |
c.375A > G;p.K125K;10:87933134 - 87933134 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.325_326insG;p.D109fs * 6;10:87933084 - 87933085 |
central_nervous_system;大脑 | 神经胶质瘤;gliosarcoma | 插入——转移 |
c.275A > G;p.D92G;10:87933034 - 87933034 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.375A > G;p.K125K;10:87933134 - 87933134 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.275A > G;p.D92G;10:87933034 - 87933034 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.275A > G;p.D92G;10:87933034 - 87933034 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.240A > T;p.K80N;10:87931076 - 87931076 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.275A > G;p.D92G;10:87933034 - 87933034 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.275A > G;p.D92G;10:87933034 - 87933034 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.491_492insA;p.K164fs * 16;10:87933250 - 87933251 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.844G > T;p.G282 *;10:87960936 - 87960936 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.922C > T;p.R308C;10:87961014 - 87961014 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.721_722TT > CTTGGCC;p.F241fs * 17;10:87957939 - 87957940 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 复杂——转移 |
c.275A > G;p.D92G;10:87933034 - 87933034 |
upper_aerodigestive_tract;喉 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.403A > G;p.I135V;10:87933162 - 87933162 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.275A > G;p.D92G;10:87933034 - 87933034 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.428delG;p.G143fs * 4;10:87933187 - 87933187 |
NS | malignant_melanoma | 删除——转移 |
c.355G > T;p.V119F;10:87933114 - 87933114 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.548_549insA;p.N184fs * 6;10:87952173 - 87952174 |
子宫内膜 | 癌 | 插入——转移 |
c.702G >;p.R234R;10:87957920 - 87957920 |
皮肤;head_neck | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.877G > T;p.G293 *;10:87960969 - 87960969 |
子宫内膜 | 癌 | 替换-胡说 |
c.165-1G > C;p。?。10:87925512 - 87925512 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.548_549insA;p.N184fs * 6;10:87952173 - 87952174 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.165G >;p.R55R;10:87925513 - 87925513 |
子宫内膜 | 癌 | 替换-编码沉默 |
c.270T >;p.F90L;10:87933029 - 87933029 |
upper_aerodigestive_tract;咽 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.974T > C;p.L325P;10:87961066 - 87961066 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.203A > G;p.Y68C;10:87925551 - 87925551 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.203A > G;p.Y68C;10:87925551 - 87925551 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.254-3C > T;p。?。10:87933010 - 87933010 |
乳房 | 癌;adenoid_cystic_carcinoma | 未知的 |
c.954_955insA;p.T319fs * 6;10:87961046 - 87961047 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.114T > C;p.P38P;10:87894059 - 87894059 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.548_549insA;p.N184fs * 6;10:87952173 - 87952174 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.355G > T;p.V119F;10:87933114 - 87933114 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.203A > G;p.Y68C;10:87925551 - 87925551 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.877G > T;p.G293 *;10:87960969 - 87960969 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.164G > T;p.R55M;10:87894109 - 87894109 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.428delG;p.G143fs * 4;10:87933187 - 87933187 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.724G > T;p.E242 *;10:87957942 - 87957942 |
central_nervous_system;髓质 | primitive_neuroectodermal_tumour-medulloblastoma;经典 | 替换-胡说 |
c.114T > C;p.P38P;10:87894059 - 87894059 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.203A > G;p.Y68C;10:87925551 - 87925551 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.548_549insA;p.N184fs * 6;10:87952173 - 87952174 |
NS | malignant_melanoma | 插入——转移 |
c.724G > T;p.E242 *;10:87957942 - 87957942 |
子宫内膜 | 癌;clear_cell_carcinoma | 替换-胡说 |
c.71A > T;p.D24V;10:87864540 - 87864540 |
胃 | 癌;腺癌 | 替换-错义 |
c.254-3C > T;p。?。10:87933010 - 87933010 |
乳房 | 癌;adenoid_cystic_carcinoma | 未知的 |
c.209 + 1 _209 + 4 delgtaa;p。?。10:87925558 - 87925561 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.974T > C;p.L325P;10:87961066 - 87961066 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.114T > C;p.P38P;10:87894059 - 87894059 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.862G >;p.E288K;10:87960954 - 87960954 |
阴户 | in_situ_neoplasm;vulvar_intraepithelial_neoplasia_Grade_III | 替换-错义 |
c.380G > T;p.G127V;10:87933139 - 87933139 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.992A > G;p.D331G;10:87961084 - 87961084 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.489_497AAAGGGAGT > TAAGGGAGA;p.K163_V166 > NKGE;10:87933248 - 87952122 |
甲状腺 | 癌 | 复杂——复合替换 |
c.254-2A > C;p。?。10:87933011 - 87933011 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.275A > T;p.D92V;10:87933034 - 87933034 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.770T > C;p.F257S;10:87957988 - 87957988 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.992A > G;p.D331G;10:87961084 - 87961084 |
upper_aerodigestive_tract;咽 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.339T > G;p.S113R;10:87933098 - 87933098 |
子宫内膜 | 增生;simple-atypical | 替换-错义 |
c.1043C >;p.T348K;10:87965303 - 87965303 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.744_745delTG;p.C250fs * 2;10:87957962 - 87957963 |
乳房 | 癌;ductal_carcinoma | 删除——转移 |
c.673T > G;p.Y225D;10:87957891 - 87957891 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.380G > T;p.G127V;10:87933139 - 87933139 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.510_514delTCAGA;p.S170fs * 8;10:87952135 - 87952139 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.210-7delCTTT;p。?。10:87931039 - 87931042 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm;chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | 未知的 |
c.275A > T;p.D92V;10:87933034 - 87933034 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.778A > T;p.K260 *;10:87957996 - 87957996 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.862G >;p.E288K;10:87960954 - 87960954 |
large_intestine;直肠 | NS | 替换-错义 |
c.992A > G;p.D331G;10:87961084 - 87961084 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.992A > G;p.D331G;10:87961084 - 87961084 |
upper_aerodigestive_tract;喉 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.964_964delA;p.N323fs * 21;10:87961056 - 87961056 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.288A > G;p.P96P;10:87933047 - 87933047 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.1027-1G > T;p。?。10:87965286 - 87965286 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.436T > G;p.L146V;10:87933195 - 87933195 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.302T > C;p.I101T;10:87933061 - 87933061 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.485_486insCAAAAAGG;p.D162fs * 8;10:87933244 - 87933245 |
子宫内膜 | 增生;complex-atypical | 插入——转移 |
c.302T > C;p.I101T;10:87933061 - 87933061 |
central_nervous_system;大脑 | 神经胶质瘤;oligodendroglioma_Grade_III | 替换-错义 |
c.302T > C;p.I101T;10:87933061 - 87933061 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.143delA;p.N48fs * 6;10:87894088 - 87894088 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.314G > C;p.C105S;10:87933073 - 87933073 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.1027-1G > T;p。?。10:87965286 - 87965286 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.302T > C;p.I101T;10:87933061 - 87933061 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.1027-1G > T;p。?。10:87965286 - 87965286 |
large_intestine;直肠 | 癌;腺癌 | 未知的 |
c.302T > C;p.I101T;10:87933061 - 87933061 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.314G > C;p.C105S;10:87933073 - 87933073 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.314G > C;p.C105S;10:87933073 - 87933073 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.721_722delTT;p.F241fs * 1;10:87957939 - 87957940 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.302T > C;p.I101T;10:87933061 - 87933061 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.302T > C;p.I101T;10:87933061 - 87933061 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.302T > C;p.I101T;10:87933061 - 87933061 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.492 + 2 insgccg;p。?。10:87933253 - 87933254 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 未知的 |
c.79 + 11 c > T;p。?。10:87864559 - 87864559 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm;mantle_cell_lymphoma | 未知的 |
c.738_739insCACTCAC;p.L247fs * 8;10:87957956 - 87957957 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.687A > T;p.S229S;10:87957905 - 87957905 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.737_738ins13;p.L247fs * 10;10:87957955 - 87957956 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.319G > C;p.D107H;10:87933078 - 87933078 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.90delA;p.N31fs * 23;10:87894035 - 87894035 |
肝 | 癌 | 删除——转移 |
c.69_74delAGACTT;p.D24_L25del;10:87864538 - 87864543 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.945_946insG;p.Y315fs * 9;10:87961037 - 87961038 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.164 + 1 g > T;p。?。10:87894110 - 87894110 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.738G >;p.P246P;10:87957956 - 87957956 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.752G > T;p.G251V;10:87957970 - 87957970 |
genital_tract;extragonadal | germ_cell_tumour | 替换-错义 |
c.343G >;p.D115N;10:87933102 - 87933102 |
子宫内膜 | 癌 | 替换-错义 |
c.802-7delTTTTT;p。?。10:87960887 - 87960891 |
胃 | 癌;腺癌 | 未知的 |
c.752G > T;p.G251V;10:87957970 - 87957970 |
皮肤 | malignant_melanoma | 替换-错义 |
c.738G >;p.P246P;10:87957956 - 87957956 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.760_764delAAAGT;p.K254fs * 42;10:87957978 - 87957982 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.737C > T;p.P246L;10:87957955 - 87957955 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.813T > C;p.F271F;10:87960905 - 87960905 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.760_764delAAAGT;p.K254fs * 42;10:87957978 - 87957982 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.335T > C;p.L112P;10:87933094 - 87933094 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.737C > T;p.P246L;10:87957955 - 87957955 |
upper_aerodigestive_tract;喉 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.737C > T;p.P246L;10:87957955 - 87957955 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.41_42insG;p.R14fs * 29;10:87864510 - 87864511 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.737C > T;p.P246L;10:87957955 - 87957955 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.813T > C;p.F271F;10:87960905 - 87960905 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.752G > T;p.G251V;10:87957970 - 87957970 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.738G >;p.P246P;10:87957956 - 87957956 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-编码沉默 |
c.119delA;p.R41fs * 13;10:87894064 - 87894064 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.752G > T;p.G251V;10:87957970 - 87957970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.737C > T;p.P246L;10:87957955 - 87957955 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.752G > T;p.G251V;10:87957970 - 87957970 |
食管 | 癌;腺癌 | 替换-错义 |
c.335T > C;p.L112P;10:87933094 - 87933094 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.737C > T;p.P246L;10:87957955 - 87957955 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.737C > T;p.P246L;10:87957955 - 87957955 |
肺 | 癌;腺癌 | 替换-错义 |
c.63C > T;p.F21F;10:87864532 - 87864532 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.162A > G;p.V54V;10:87894107 - 87894107 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.737C > T;p.P246L;10:87957955 - 87957955 |
皮肤;腿 | malignant_melanoma;superficial_spreading | 替换-错义 |
c.737C > T;p.P246L;10:87957955 - 87957955 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.335T > C;p.L112P;10:87933094 - 87933094 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.737C > T;p.P246L;10:87957955 - 87957955 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.760_764delAAAGT;p.K254fs * 42;10:87957978 - 87957982 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.813T > C;p.F271F;10:87960905 - 87960905 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.374A > G;p.K125R;10:87933133 - 87933133 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.813T > C;p.F271F;10:87960905 - 87960905 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.864delA;p.E288fs * 3;10:87960956 - 87960956 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.138C > G;p.Y46 *;10:87894083 - 87894083 |
乳房 | 癌 | 替换-胡说 |
c.1011_1014delTTCT;p.F337fs * 6;10:87961103 - 87961106 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.955_996del42;p.T319_K332del;10:87961047 - 87961088 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.820delT;p.W274fs * 2;10:87960912 - 87960912 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.715A > G;p.M239V;10:87957933 - 87957933 |
肾脏 | 癌;papillary_renal_cell_carcinoma | 替换-错义 |
c.1011_1014delTTCT;p.F337fs * 6;10:87961103 - 87961106 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.710_710delA;p.K237fs * 19;10:87957928 - 87957928 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.951_954delACTT;p.L318fs * 2;10:87961043 - 87961046 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.820delT;p.W274fs * 2;10:87960912 - 87960912 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.138C > G;p.Y46 *;10:87894083 - 87894083 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.494G > T;p.G165V;10:87952119 - 87952119 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.212_255del44;p.C71fs * 6;10:87931048 - 87933014 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.650_651insG;p.C218fs * 25;10:87957868 - 87957869 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.655C > T;p.Q219 *;10:87957873 - 87957873 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.755_787 > CGAAAG;p.D252_K263 > AKE;10:87957973 - 87958005 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 复杂——删除inframe |
c.655C > T;p.Q219 *;10:87957873 - 87957873 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.655C > T;p.Q219 *;10:87957873 - 87957873 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_I | 替换-胡说 |
c.533A > G;p.Y178C;10:87952158 - 87952158 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.195C > G;p.Y65 *;10:87925543 - 87925543 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.379G >;p.G127R;10:87933138 - 87933138 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.635-1G > T;p。?。10:87957852 - 87957852 |
子宫内膜 | 癌 | 未知的 |
c.1 - 101 c > T;p。?。10:87864369 - 87864369 |
皮肤 | malignant_melanoma | 未知的 |
c.635-1G > T;p。?。10:87957852 - 87957852 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.379G >;p.G127R;10:87933138 - 87933138 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1026 + 24 g >;p。?。10:87961142 - 87961142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_I | 未知的 |
c.195C > G;p.Y65 *;10:87925543 - 87925543 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.379G >;p.G127R;10:87933138 - 87933138 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.379G >;p.G127R;10:87933138 - 87933138 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.635-1G > T;p。?。10:87957852 - 87957852 |
large_intestine;结肠 | 癌;腺癌 | 未知的 |
c.379G >;p.G127R;10:87933138 - 87933138 |
胃 | 癌;腺癌 | 替换-错义 |
c.195C > G;p.Y65 *;10:87925543 - 87925543 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.379G >;p.G127R;10:87933138 - 87933138 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.217G > T;p.E73 *;10:87931053 - 87931053 |
子宫内膜 | 癌 | 替换-胡说 |
c.276C >;p.D92E;10:87933035 - 87933035 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.28_30delAGC;p.S10delS;10:87864497 - 87864499 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.803delA;p.D268fs * 8;10:87960895 - 87960895 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.717_718insTCCT;p.Y240fs * 4;10:87957935 - 87957936 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.276C >;p.D92E;10:87933035 - 87933035 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.1106T > C;p.V369A;10:87965366 - 87965366 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.393T > C;p.T131T;10:87933152 - 87933152 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.734_735ins13;p.Q245fs * 2;10:87957952 - 87957953 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.511C > G;p.Q171E;10:87952136 - 87952136 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.215C > T;p.A72V;10:87931051 - 87931051 |
肝 | 癌 | 替换-错义 |
c.511C > G;p.Q171E;10:87952136 - 87952136 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.803delA;p.D268fs * 8;10:87960895 - 87960895 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.802-18_815del32;p。?。10:87960876 - 87960907 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.276C >;p.D92E;10:87933035 - 87933035 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.276C >;p.D92E;10:87933035 - 87933035 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.638C >;p.P213H;10:87957856 - 87957856 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.80_81delAT;p.Y27fs * 16;10:87894025 - 87894026 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.821delG;p.V275fs * 1;10:87960913 - 87960913 |
乳房 | 癌 | 删除——转移 |
c.754G > T;p.D252Y;10:87957972 - 87957972 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.635-2A > C;p。?。10:87957851 - 87957851 |
central_nervous_system;丘脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.750_751delTG;p.C250fs * 2;10:87957968 - 87957969 |
子宫内膜 | 增生;非典型的 | 删除——转移 |
c.750_751delTG;p.C250fs * 2;10:87957968 - 87957969 |
甲状腺 | 癌;anaplastic_carcinoma | 删除——转移 |
c.374A > C;p.K125T;10:87933133 - 87933133 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.821delG;p.V275fs * 1;10:87960913 - 87960913 |
乳房 | 癌;basal_ _carcinoma(三阴性) | 删除——转移 |
c.406_407insA;p.C136fs * 1;10:87933165 - 87933166 |
子宫内膜 | 癌;mixed_serous_and_endometrioid_carcinoma | 插入——转移 |
c.754G > T;p.D252Y;10:87957972 - 87957972 |
食道;lower_third | 癌;腺癌 | 替换-错义 |
c.635-1G > C;p。?。10:87957852 - 87957852 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.754G > T;p.D252Y;10:87957972 - 87957972 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.879A > C;p.G293G;10:87960971 - 87960971 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.810_811insA;p.F271fs * 27个;10:87960902 - 87960903 |
large_intestine | 癌;腺癌 | 插入——转移 |
c.260A > C;p.Q87P;10:87933019 - 87933019 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.754G > T;p.D252Y;10:87957972 - 87957972 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.750_751delTG;p.C250fs * 2;10:87957968 - 87957969 |
阴户 | in_situ_neoplasm;vulvar_intraepithelial_neoplasia_Grade_III | 删除——转移 |
c.750_751delTG;p.C250fs * 2;10:87957968 - 87957969 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.754G > T;p.D252Y;10:87957972 - 87957972 |
upper_aerodigestive_tract;喉 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.37A > G;p.K13E;10:87864506 - 87864506 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.546_547insA;p.K183fs * 7;10:87952171 - 87952172 |
皮肤 | malignant_melanoma | 插入——转移 |
c.821delG;p.V275fs * 1;10:87960913 - 87960913 |
乳房 | 癌 | 删除——转移 |
c.263_272del10;p.Y88fs * 1;10:87933022 - 87933031 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.37A > G;p.K13E;10:87864506 - 87864506 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.750_751delTG;p.C250fs * 2;10:87957968 - 87957969 |
阴户 | 癌;squamous_cell_carcinoma | 删除——转移 |
c.48_49delTC;p.Y16fs * 1;10:87864517 - 87864518 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.754G > T;p.D252Y;10:87957972 - 87957972 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.752G > C;p.G251A;10:87957970 - 87957970 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.48_49delTC;p.Y16fs * 1;10:87864517 - 87864518 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.754G > T;p.D252Y;10:87957972 - 87957972 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.964A > G;p.K322E;10:87961056 - 87961056 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.750_751delTG;p.C250fs * 2;10:87957968 - 87957969 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.406_407insA;p.C136fs * 1;10:87933165 - 87933166 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.808_812delATGTT;p.M270fs * 26;10:87960900 - 87960904 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.79T >;p.Y27N;10:87864548 - 87864548 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.578T > C;p.L193P;10:87952203 - 87952203 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.634 + 39 t > G;p。?。10:87952298 - 87952298 |
胃 | 癌;腺癌 | 未知的 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.256G > T;p.A86S;10:87933015 - 87933015 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.185A > T;p.K62I;10:87925533 - 87925533 |
胃 | 癌;腺癌 | 替换-错义 |
c.812T > C;p.F271S;10:87960904 - 87960904 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
子宫内膜 | 癌;serous_carcinoma | 替换-错义 |
c.79T >;p.Y27N;10:87864548 - 87864548 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.1038C >;p.Y346 *;10:87965298 - 87965298 |
子宫内膜 | 癌 | 替换-胡说 |
c.518G >;p.R173H;10:87952143 - 87952143 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.482G > T;p.R161I;10:87933241 - 87933241 |
乳房 | 癌 | 替换-错义 |
c.419T > C;p.L140S;10:87933178 - 87933178 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.557delT;p.L186fs * 13;10:87952182 - 87952182 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.416T >;p.L139 *;10:87933175 - 87933175 |
甲状腺 | 癌 | 替换-胡说 |
c.518G >;p.R173H;10:87952143 - 87952143 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
卵巢 | 癌;serous_carcinoma | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
前列腺癌 | 癌 | 替换-错义 |
c.812T > C;p.F271S;10:87960904 - 87960904 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.640_655 >行为;p.Q214fs * 3;10:87957858 - 87957873 |
子宫内膜 | 癌;endometrioid_carcinoma | 复杂——转移 |
c.256G > T;p.A86S;10:87933015 - 87933015 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.812T > C;p.F271S;10:87960904 - 87960904 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.482G > T;p.R161I;10:87933241 - 87933241 |
乳房 | 增生;atypical_ductal_hyperplasia | 替换-错义 |
c.755_756insC;p.I253fs * 45;10:87957973 - 87957974 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.518G >;p.R173H;10:87952143 - 87952143 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.518G >;p.R173H;10:87952143 - 87952143 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.188_189insA;p.N63fs * 11;10:87925536 - 87925537 |
子宫内膜 | 癌;squamous_cell_carcinoma | 插入——转移 |
c.282delC;p.P95fs * 4;10:87933041 - 87933041 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.1_8delATGACAGC;p.M1fs * 7;10:87864467 - 87864477 |
haematopoietic_and_lymphoid_tissue;adrenal_gland | lymphoid_neoplasm;diffuse_large_B_cell_lymphoma | 删除——转移 |
c.79T >;p.Y27N;10:87864548 - 87864548 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.425G >;p.R142Q;10:87933184 - 87933184 |
甲状腺 | 癌;papillary_carcinoma | 替换-错义 |
c.219A > G;p.E73E;10:87931055 - 87931055 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.425G >;p.R142Q;10:87933184 - 87933184 |
甲状腺 | 癌;follicular_carcinoma | 替换-错义 |
c.476G >;p.R159K;10:87933235 - 87933235 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.183T >;p.H61Q;10:87925531 - 87925531 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.476G >;p.R159K;10:87933235 - 87933235 |
central_nervous_system;lateral_ventricle | 神经胶质瘤;ependymoma_Grade_II | 替换-错义 |
c.476G >;p.R159K;10:87933235 - 87933235 |
central_nervous_system;occipital_lobe | 神经胶质瘤;astrocytoma_Grade_II | 替换-错义 |
c.104T > C;p.M35T;10:87894049 - 87894049 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.425G >;p.R142Q;10:87933184 - 87933184 |
卵巢 | 癌;endometrioid_carcinoma | 替换-错义 |
c.476G >;p.R159K;10:87933235 - 87933235 |
甲状腺 | 癌;follicular_carcinoma | 替换-错义 |
c.206delA;p.N69fs * 30;10:87925554 - 87925554 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.319G > T;p.D107Y;10:87933078 - 87933078 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.805A > T;p.K269 *;10:87960897 - 87960897 |
胃 | 腺癌 | 替换-胡说 |
c.319G > T;p.D107Y;10:87933078 - 87933078 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.425G >;p.R142Q;10:87933184 - 87933184 |
甲状腺 | 癌;papillary_carcinoma | 替换-错义 |
c.883_884insT;p.C296fs * 2;10:87960975 - 87960976 |
肝 | 癌 | 插入——转移 |
c.391A > C;p.T131P;10:87933150 - 87933150 |
卵巢 | 癌;endometrioid_carcinoma | 替换-错义 |
c.476G >;p.R159K;10:87933235 - 87933235 |
皮肤;耳朵 | malignant_melanoma | 替换-错义 |
c.319G > T;p.D107Y;10:87933078 - 87933078 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.319G > T;p.D107Y;10:87933078 - 87933078 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.319G > T;p.D107Y;10:87933078 - 87933078 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.451G >;p.A151T;10:87933210 - 87933210 |
子宫内膜 | 其他;solitary_cyst | 替换-错义 |
c.361G >;p.A121T;10:87933120 - 87933120 |
肺 | 癌;腺癌 | 替换-错义 |
c.451G >;p.A151T;10:87933210 - 87933210 |
子宫内膜 | 其他;solitary_cyst | 替换-错义 |
c.464A > G;p.Y155C;10:87933223 - 87933223 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.210-7delCTTTT;p。?。10:87931039 - 87931043 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.464A > G;p.Y155C;10:87933223 - 87933223 |
甲状腺 | 癌;anaplastic_carcinoma | 替换-错义 |
c.445C > T;p.Q149 *;10:87933204 - 87933204 |
子宫内膜 | 增生;complex-atypical | 替换-胡说 |
c.464A > G;p.Y155C;10:87933223 - 87933223 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.445C > T;p.Q149 *;10:87933204 - 87933204 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-胡说 |
c.766G >;p.E256K;10:87957984 - 87957984 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.464A > G;p.Y155C;10:87933223 - 87933223 |
biliary_tract;bile_duct | 癌;腺癌 | 替换-错义 |
c.492 + 99 g > A;p。?。10:87933350 - 87933350 |
upper_aerodigestive_tract;喉 | 癌;squamous_cell_carcinoma | 未知的 |
c.878delG;p.G293fs * 14;10:87960970 - 87960970 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.1133_1136delGATA;p.R378fs * > 25;10:87965393 - 87965396 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.464A > G;p.Y155C;10:87933223 - 87933223 |
卵巢 | 癌 | 替换-错义 |
c.451G >;p.A151T;10:87933210 - 87933210 |
子宫内膜 | 其他;solitary_cyst | 替换-错义 |
c.551A > T;p.N184I;10:87952176 - 87952176 |
central_nervous_system;大脑 | 神经胶质瘤;oligoastrocytoma_Grade_IV | 替换-错义 |
c.935delA;p.D312fs * 5;10:87961027 - 87961027 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.445C > T;p.Q149 *;10:87933204 - 87933204 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.361G >;p.A121T;10:87933120 - 87933120 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.451G >;p.A151T;10:87933210 - 87933210 |
子宫内膜 | 癌;clear_cell_carcinoma | 替换-错义 |
c.464A > G;p.Y155C;10:87933223 - 87933223 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.464A > G;p.Y155C;10:87933223 - 87933223 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.445C > T;p.Q149 *;10:87933204 - 87933204 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.451G >;p.A151T;10:87933210 - 87933210 |
子宫内膜 | 其他;solitary_cyst | 替换-错义 |
c.464A > G;p.Y155C;10:87933223 - 87933223 |
乳房 | 癌;basal_ _carcinoma(三阴性) | 替换-错义 |
c.878delG;p.G293fs * 14;10:87960970 - 87960970 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.766G >;p.E256K;10:87957984 - 87957984 |
乳房 | 癌;ductal_carcinoma | 替换-错义 |
c.464A > G;p.Y155C;10:87933223 - 87933223 |
皮肤;手臂 | malignant_melanoma | 替换-错义 |
c.621T >;p.S207R;10:87952246 - 87952246 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.325G >;p.D109N;10:87933084 - 87933084 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.993delC;p.D331fs * 13;10:87961085 - 87961085 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.633C >;p.C211 *;10:87952258 - 87952258 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-胡说 |
c.391A > G;p.T131A;10:87933150 - 87933150 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.993delC;p.D331fs * 13;10:87961085 - 87961085 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.633C >;p.C211 *;10:87952258 - 87952258 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.877G >;p.G293R;10:87960969 - 87960969 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.626_627insA;p.T210fs * 33;10:87952251 - 87952252 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.391A > G;p.T131A;10:87933150 - 87933150 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.325G >;p.D109N;10:87933084 - 87933084 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.959T >;p.L320 *;10:87961051 - 87961051 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.140G > T;p.R47M;10:87894085 - 87894085 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.80_164del85;p。?。10:87894025 - 87894109 |
NS | malignant_melanoma | 未知的 |
c.140G > T;p.R47M;10:87894085 - 87894085 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.78delC;p.T26fs * 28;10:87864547 - 87864547 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.339_340ins71;p.S113fs * 9;10:87933098 - 87933099 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.415_416delTT;p.L139fs * 40;10:87933174 - 87933175 |
子宫内膜 | 增生 | 删除——转移 |
c.439A > T;p.K147 *;10:87933198 - 87933198 |
皮肤 | 癌;Merkel_cell_carcinoma | 替换-胡说 |
c.404_409delTATGTG;p.I135_A137 > T;10:87933163 - 87933168 |
central_nervous_system;大脑 | 神经胶质瘤 | 复杂——删除inframe |
c.598_599delTT;p.F200fs * 1;10:87952223 - 87952224 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.700_701insCCCG;p.R234fs * 10;10:87957918 - 87957919 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.674A > G;p.Y225C;10:87957892 - 87957892 |
upper_aerodigestive_tract;咽 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.140G > T;p.R47M;10:87894085 - 87894085 |
胃 | 癌;腺癌 | 替换-错义 |
c.415_416delTT;p.L139fs * 40;10:87933174 - 87933175 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.495A > T;p.G165G;10:87952120 - 87952120 |
肺 | 癌;small_cell_carcinoma | 替换-编码沉默 |
c.740_744delTACCT;p.L247fs * 4;10:87957958 - 87957962 |
子宫内膜 | 癌 | 删除——转移 |
c.1092T > C;p.S364S;10:87965352 - 87965352 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.1027-2A > G;p。?。10:87965285 - 87965285 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.1027-2A > G;p。?。10:87965285 - 87965285 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.485A > G;p.D162G;10:87933244 - 87933244 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.146A > C;p.N49T;10:87894091 - 87894091 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.737_738insTCGTACCG;p.L247fs * 12;10:87957955 - 87957956 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.196A > C;p.K66Q;10:87925544 - 87925544 |
子宫内膜 | 癌 | 替换-错义 |
c.187_188insACCATTAC;p.K66fs * 36;10:87925535 - 87925536 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.1027-2A > G;p。?。10:87965285 - 87965285 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.1027-2A > G;p。?。10:87965285 - 87965285 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.101C >;p.A34D;10:87894046 - 87894046 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1027-2A > G;p。?。10:87965285 - 87965285 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.573_583del11;p.V191fs * 7;10:87952198 - 87952208 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.485A > G;p.D162G;10:87933244 - 87933244 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.746T >;p.V249E;10:87957964 - 87957964 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1027-2A > G;p。?。10:87965285 - 87965285 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 未知的 |
c.729C >;p.F243L;10:87957947 - 87957947 |
肺 | 癌;腺癌 | 替换-错义 |
c.485A > G;p.D162G;10:87933244 - 87933244 |
甲状腺 | 癌;anaplastic_carcinoma | 替换-错义 |
c.1027-2A > G;p。?。10:87965285 - 87965285 |
肾脏 | 其他;肿瘤 | 未知的 |
c.1027-2A > G;p。?。10:87965285 - 87965285 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.1027-2A > G;p。?。10:87965285 - 87965285 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.408T >;p.C136 *;10:87933167 - 87933167 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.721T > C;p.F241L;10:87957939 - 87957939 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.762_775del14;p.K254fs * 39;10:87957980 - 87957993 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.476_477insA;p.T160fs * 20;10:87933235 - 87933236 |
子宫内膜;卵巢 | 子宫内膜异位 | 插入——转移 |
c.1212A > T;p。* 404 ciffyqeg *;10:87965472 - 87965472 |
子宫内膜 | 癌;endometrioid_carcinoma | 不间断的扩展 |
c.476_477insA;p.T160fs * 20;10:87933235 - 87933236 |
子宫内膜;卵巢 | 子宫内膜异位 | 插入——转移 |
c.476_477insA;p.T160fs * 20;10:87933235 - 87933236 |
子宫内膜;卵巢 | 子宫内膜异位 | 插入——转移 |
c.476_477insA;p.T160fs * 20;10:87933235 - 87933236 |
子宫内膜;卵巢 | 子宫内膜异位 | 插入——转移 |
c.476_477insA;p.T160fs * 20;10:87933235 - 87933236 |
子宫内膜;卵巢 | 子宫内膜异位 | 插入——转移 |
c.136T > C;p.Y46H;10:87894081 - 87894081 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.476_477insA;p.T160fs * 20;10:87933235 - 87933236 |
子宫内膜;卵巢 | 子宫内膜异位 | 插入——转移 |
c.476_477insA;p.T160fs * 20;10:87933235 - 87933236 |
子宫内膜;卵巢 | 子宫内膜异位 | 插入——转移 |
c.721T > C;p.F241L;10:87957939 - 87957939 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.460_492 + 5 del38;p。?。10:87933219 - 87933256 |
乳房 | 癌 | 未知的 |
c.721T > C;p.F241L;10:87957939 - 87957939 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.210-2A > G;p。?。10:87931044 - 87931044 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.476_477insA;p.T160fs * 20;10:87933235 - 87933236 |
子宫内膜;卵巢 | 子宫内膜异位 | 插入——转移 |
c.476_477insA;p.T160fs * 20;10:87933235 - 87933236 |
子宫内膜;卵巢 | 子宫内膜异位 | 插入——转移 |
c.767_768insG;p.F257fs * 41;10:87957985 - 87957986 |
乳房 | 癌 | 插入——转移 |
c.739_740insAAGG;p.L247fs * 1;10:87957957 - 87957958 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.968_970delATG;p.D324delD;10:87961060 - 87961062 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.476_477insA;p.T160fs * 20;10:87933235 - 87933236 |
子宫内膜;卵巢 | 子宫内膜异位 | 插入——转移 |
c.210-2A > G;p。?。10:87931044 - 87931044 |
皮肤 | malignant_melanoma | 未知的 |
c.940G > T;p.E314 *;10:87961032 - 87961032 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.507C > T;p.P169P;10:87952132 - 87952132 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.721T > C;p.F241L;10:87957939 - 87957939 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.476_477insA;p.T160fs * 20;10:87933235 - 87933236 |
子宫内膜;卵巢 | 子宫内膜异位 | 插入——转移 |
c.685_686ins10;p.T232fs * 14;10:87957903 - 87957904 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.156T > C;p.D52D;10:87894101 - 87894101 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.165-5insT;p。?。10:87925508 - 87925509 |
阴户 | 癌;squamous_cell_carcinoma | 未知的 |
c.156T > C;p.D52D;10:87894101 - 87894101 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.481_482delAG;p.D162fs * 17;10:87933240 - 87933241 |
large_intestine;盲肠 | 癌;腺癌 | 删除——转移 |
c.156T > C;p.D52D;10:87894101 - 87894101 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.209 + 1 delgtaagtatgttttcttattt;p。?。10:87925558 - 87925577 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.238A > G;p.K80E;10:87931074 - 87931074 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.699_700ins11;p.R234fs * 26;10:87957917 - 87957918 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.514A > T;p.R172W;10:87952139 - 87952139 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.920A > G;p.E307G;10:87961012 - 87961012 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.1090T > C;p.S364P;10:87965350 - 87965350 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.920A > G;p.E307G;10:87961012 - 87961012 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.437T >;p.L146 *;10:87933196 - 87933196 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.859T > C;p.S287P;10:87960951 - 87960951 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.766G > T;p.E256 *;10:87957984 - 87957984 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.859T > C;p.S287P;10:87960951 - 87960951 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.766G > T;p.E256 *;10:87957984 - 87957984 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.480C > T;p.T160T;10:87933239 - 87933239 |
前列腺癌 | 癌;腺癌 | 替换-编码沉默 |
c.969T >;p.N323K;10:87961061 - 87961061 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.96delT;p.I32fs * 22;10:87894041 - 87894041 |
子宫内膜 | 癌 | 删除——转移 |
c.672_673insA;p.I224fs * 18;10:87957890 - 87957891 |
前列腺癌 | 癌;腺癌 | 插入——转移 |
c.969T >;p.N323K;10:87961061 - 87961061 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.342A > G;p.E114E;10:87933101 - 87933101 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.610C > T;p.P204S;10:87952235 - 87952235 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.367C > G;p.H123D;10:87933126 - 87933126 |
乳房 | 癌 | 替换-错义 |
c.342A > G;p.E114E;10:87933101 - 87933101 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.342A > G;p.E114E;10:87933101 - 87933101 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.367C > G;p.H123D;10:87933126 - 87933126 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.802-3insT;p。?。10:87960891 - 87960892 |
子宫颈 | 癌 | 未知的 |
c.96delT;p.I32fs * 22;10:87894041 - 87894041 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.672_673insA;p.I224fs * 18;10:87957890 - 87957891 |
前列腺癌 | 癌;腺癌 | 插入——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.274G > T;p.D92Y;10:87933033 - 87933033 |
子宫内膜 | 癌;serous_carcinoma | 替换-错义 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine;盲肠 | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫颈 | 癌;squamous_cell_carcinoma | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.454C > T;p.L152L;10:87933213 - 87933213 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫颈 | 癌;endometrioid_adenocarcinoma | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_leukaemia | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.563A > C;p.Y188S;10:87952188 - 87952188 |
胃 | 癌;腺癌 | 替换-错义 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;carcinosarcoma-malignant_mesodermal_mixed_tumour | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.722T > C;p.F241S;10:87957940 - 87957940 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.310delT;p.C105fs * 8;10:87933069 - 87933069 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
central_nervous_system;大脑 | 神经胶质瘤;oligodendroglioma_Grade_III | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.161T > C;p.V54A;10:87894106 - 87894106 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
autonomic_ganglia | 神经母细胞瘤 | 删除——转移 |
c.310delT;p.C105fs * 8;10:87933069 - 87933069 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
upper_aerodigestive_tract;口 | 癌;squamous_cell_carcinoma | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;mixed_serous_and_endometrioid_and_clear_cell_carcinoma | 删除——转移 |
c.973C > T;p.L325F;10:87961065 - 87961065 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.493-2A > C;p。?。10:87952116 - 87952116 |
卵巢 | 癌;serous_carcinoma | 未知的 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;squamous_cell_carcinoma | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.722T > C;p.F241S;10:87957940 - 87957940 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
卵巢 | 癌 | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.800delA;p.K267fs * 9;10:87958018 - 87958018 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.1021T > G;p.F341V;10:87961113 - 87961113 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.646G > T;p.V216L;10:87957864 - 87957864 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.1021T > G;p.F341V;10:87961113 - 87961113 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1021T > G;p.F341V;10:87961113 - 87961113 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.781C > T;p.Q261 *;10:87957999 - 87957999 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.1021T > G;p.F341V;10:87961113 - 87961113 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.487delA;p.K164fs * 3;10:87933246 - 87933246 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.781C > T;p.Q261 *;10:87957999 - 87957999 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.1021T > G;p.F341V;10:87961113 - 87961113 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.42G > T;p.R14S;10:87864511 - 87864511 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.864_868delAAAAG;p.E288fs * 8;10:87960956 - 87960960 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.392C > T;p.T131I;10:87933151 - 87933151 |
卵巢 | 癌;serous_carcinoma | 替换-错义 |
c.546A > T;p.L182F;10:87952171 - 87952171 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.961_962ins29;p.T321fs * 6;10:87961053 - 87961054 |
胰腺 | carcinoid-endocrine_tumour | 插入——转移 |
c.546A > T;p.L182F;10:87952171 - 87952171 |
胰腺 | carcinoid-endocrine_tumour;non_functioning | 替换-错义 |
c.781C > T;p.Q261 *;10:87957999 - 87957999 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.402G >;p.M134I;10:87933161 - 87933161 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.851A > G;p.E284G;10:87960943 - 87960943 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.254-3C >;p。?。10:87933010 - 87933010 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.851A > G;p.E284G;10:87960943 - 87960943 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.402G >;p.M134I;10:87933161 - 87933161 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.457G > T;p.D153Y;10:87933216 - 87933216 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.815A > C;p.H272P;10:87960907 - 87960907 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;Burkitt_lymphoma | 替换-错义 |
c.13_14insA;p.I5fs * 6;10:87864482 - 87864483 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.815A > C;p.H272P;10:87960907 - 87960907 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.702_703insAAGG;p.E235fs * 9;10:87957920 - 87957921 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.851A > G;p.E284G;10:87960943 - 87960943 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.851A > G;p.E284G;10:87960943 - 87960943 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.457G > T;p.D153Y;10:87933216 - 87933216 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.851A > G;p.E284G;10:87960943 - 87960943 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.851A > G;p.E284G;10:87960943 - 87960943 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.380_386delGAAAGGG;p.G127fs * 5;10:87933139 - 87933145 |
子宫颈 | 癌;squamous_cell_carcinoma | 删除——转移 |
c.697C >;p.R233R;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-编码沉默 |
c.851A > G;p.E284G;10:87960943 - 87960943 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.391delA;p.T131fs * 3;10:87933150 - 87933150 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.391delA;p.T131fs * 3;10:87933150 - 87933150 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.462C >;p.F154L;10:87933221 - 87933221 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.462C >;p.F154L;10:87933221 - 87933221 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.382A > C;p.K128Q;10:87933141 - 87933141 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.665T > C;p.V222A;10:87957883 - 87957883 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.274G > C;p.D92H;10:87933033 - 87933033 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.634 + 2 t > C;p。?。10:87952261 - 87952261 |
乳房 | 癌 | 未知的 |
c.504delT;p.I168fs * 15;10:87952129 - 87952129 |
卵巢 | 癌;mucinous_carcinoma | 删除——转移 |
c.274G > C;p.D92H;10:87933033 - 87933033 |
乳房 | 癌 | 替换-错义 |
c.1003C > G;p.R335G;10:87961095 - 87961095 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.665T > C;p.V222A;10:87957883 - 87957883 |
salivary_gland | 癌;腺癌 | 替换-错义 |
c.665T > C;p.V222A;10:87957883 - 87957883 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.210_253del44;p.L70fs * 7;10:87931046 - 87931089 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.210_253del44;p.L70fs * 7;10:87931046 - 87931089 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.828T >;p.N276K;10:87960920 - 87960920 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.254T > C;p.V85A;10:87933013 - 87933013 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.237delC;p.A79fs * 20;10:87931073 - 87931073 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.391delA;p.T131fs * 3;10:87933150 - 87933150 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.794_795insG;p.D268fs * 30;10:87958012 - 87958013 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.221G > C;p.R74T;10:87931057 - 87931057 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.665T > C;p.V222A;10:87957883 - 87957883 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.274G > C;p.D92H;10:87933033 - 87933033 |
乳房 | 癌;luminal_NS_carcinoma | 替换-错义 |
c.462C >;p.F154L;10:87933221 - 87933221 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.382A > C;p.K128Q;10:87933141 - 87933141 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
乳房 | 癌 | 替换-错义 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.815A > G;p.H272R;10:87960907 - 87960907 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.697_697C > GGGAGG;p.R233fs * 25;10:87957915 - 87957915 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 复杂——转移 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.703G > T;p.E235 *;10:87957921 - 87957921 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.526_528delTAT;p.Y176del;10:87952151 - 87952153 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
前列腺癌 | 癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.681C >;p.S227S;10:87957899 - 87957899 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
胃 | 癌;腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
甲状腺 | 癌;follicular_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌 | 替换-错义 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
large_intestine;直肠 | 癌;腺癌 | 替换-胡说 |
c.261A > G;p.Q87Q;10:87933020 - 87933020 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
乳房 | 癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.594delG;p.M198fs * 23;10:87952219 - 87952219 |
子宫内膜 | 增生;complex-atypical | 删除——转移 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.39A > C;p.K13N;10:87864508 - 87864508 |
胃 | 腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1027-1G > C;p。?。10:87965286 - 87965286 |
前列腺癌 | 腺瘤 | 未知的 |
c.193T >;p.Y65N;10:87925541 - 87925541 |
子宫内膜 | 癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.410_414delCATAT;p.A137fs * 41;10:87933169 - 87933173 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.132C > T;p.G44G;10:87894077 - 87894077 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.802-60delA;p。?。10:87960834 - 87960834 |
子宫内膜 | 癌 | 未知的 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.209T >;p.L70H;10:87925557 - 87925557 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-胡说 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
乳房 | 癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
central_nervous_system;大脑 | 神经胶质瘤;gliosarcoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.454C >;p.L152I;10:87933213 - 87933213 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.526_528delTAT;p.Y176del;10:87952151 - 87952153 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
前列腺癌 | 癌 | 替换-错义 |
c.132C > T;p.G44G;10:87894077 - 87894077 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-编码沉默 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
卵巢 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
卵巢 | 癌;serous_carcinoma | 替换-错义 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.815A > G;p.H272R;10:87960907 - 87960907 |
皮肤 | malignant_melanoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
皮肤 | malignant_melanoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
soft_tissue;fibrous_tissue_and_uncertain_o | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;carcinosarcoma-malignant_mesodermal_mixed_tumour | 替换-错义 |
c.703G > T;p.E235 *;10:87957921 - 87957921 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.132C > T;p.G44G;10:87894077 - 87894077 |
urinary_tract;膀胱 | 癌;transitional_cell_carcinoma | 替换-编码沉默 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
子宫内膜 | 癌;serous_carcinoma | 替换-胡说 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
large_intestine;直肠 | 癌;腺癌 | 替换-胡说 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.132C > T;p.G44G;10:87894077 - 87894077 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-编码沉默 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.19G > T;p.E7 *;10:87864488 - 87864488 |
large_intestine;直肠 | 癌;腺癌 | 替换-胡说 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
甲状腺 | 癌;anaplastic_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.688G > T;p.G230 *;10:87957906 - 87957906 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
肺 | 癌;small_cell_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.703G > T;p.E235 *;10:87957921 - 87957921 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.526_528delTAT;p.Y176del;10:87952151 - 87952153 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.703G > T;p.E235 *;10:87957921 - 87957921 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.450G > T;p.E150D;10:87933209 - 87933209 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G >;p.R130Q;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.788A > G;p.K263R;10:87958006 - 87958006 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.331T > C;p.W111R;10:87933090 - 87933090 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.245A > C;p.N82T;10:87931081 - 87931081 |
胃 | 癌;腺癌 | 替换-错义 |
c.331T > C;p.W111R;10:87933090 - 87933090 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.788A > G;p.K263R;10:87958006 - 87958006 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.245A > C;p.N82T;10:87931081 - 87931081 |
胃 | 癌;腺癌 | 替换-错义 |
c.170T > C;p.L57S;10:87925518 - 87925518 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.701G >;p.R234Q;10:87957919 - 87957919 |
甲状腺 | 癌;follicular_carcinoma | 替换-错义 |
c.170T > C;p.L57S;10:87925518 - 87925518 |
central_nervous_system;大脑 | 神经胶质瘤;oligodendroglioma_Grade_III | 替换-错义 |
c.330_331ins32;p.Q110fs * 13;10:87933089 - 87933090 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.762A > G;p.K254K;10:87957980 - 87957980 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.9_10delCA;p.I4fs * 6;10:87864478 - 87864479 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.331T > C;p.W111R;10:87933090 - 87933090 |
肺 | 癌;腺癌 | 替换-错义 |
c.724_725insTCCTTAA;p.E242fs * 13;10:87957942 - 87957943 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.376G >;p.A126T;10:87933135 - 87933135 |
子宫内膜 | 癌;serous_carcinoma | 替换-错义 |
c.250A > G;p.R84G;10:87931086 - 87931086 |
阴户 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.102T > G;p.A34A;10:87894047 - 87894047 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.455T > G;p.L152R;10:87933214 - 87933214 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.590delA;p.K197fs * 2;10:87952215 - 87952215 |
乳房 | 癌;lobular_carcinoma | 删除——转移 |
c.376G >;p.A126T;10:87933135 - 87933135 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.376G >;p.A126T;10:87933135 - 87933135 |
子宫内膜 | 癌 | 替换-错义 |
c.141_141delG;p.N48fs * 6;10:87894086 - 87894086 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.376G >;p.A126T;10:87933135 - 87933135 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.376G >;p.A126T;10:87933135 - 87933135 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.376G >;p.A126T;10:87933135 - 87933135 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.204C >;p.Y68 *;10:87925552 - 87925552 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.142A > G;p.N48D;10:87894087 - 87894087 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.20A > G;p.E7G;10:87864489 - 87864489 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.162A > T;p.V54V;10:87894107 - 87894107 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.382A > T;p.K128 *;10:87933141 - 87933141 |
胃 | 腺癌 | 替换-胡说 |
c.699_700AC > GGCCCATGG;p.R234fs * 11;10:87957917 - 87957918 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 复杂——转移 |
c.952C > T;p.L318F;10:87961044 - 87961044 |
甲状腺 | 癌;anaplastic_carcinoma | 替换-错义 |
c.142A > G;p.N48D;10:87894087 - 87894087 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.165_181del17;p.R55fs * 2;10:87925513 - 87925529 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.79 + 13 g >;p。?。10:87864561 - 87864561 |
皮肤 | malignant_melanoma | 未知的 |
c.699_700AC > GGCCCATGG;p.R234fs * 11;10:87957917 - 87957918 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm | 复杂——转移 |
c.689G >;p.G230E;10:87957907 - 87957907 |
子宫内膜 | 增生;complex-atypical | 替换-错义 |
c.562_564delTAT;p.Y188del;10:87952187 - 87952189 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.1027-1G >;p。?。10:87965286 - 87965286 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.11_14delTCAT;p.I4fs * 19;10:87864480 - 87864483 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.689G >;p.G230E;10:87957907 - 87957907 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.29G > T;p.S10I;10:87864498 - 87864498 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.634 > T + 3;p。?。10:87952262 - 87952262 |
子宫内膜 | 癌 | 未知的 |
c.1027-1G >;p。?。10:87965286 - 87965286 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 未知的 |
c.1027-1G >;p。?。10:87965286 - 87965286 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.1027-1G >;p。?。10:87965286 - 87965286 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.421C >;p.H141N;10:87933180 - 87933180 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1038C > G;p.Y346 *;10:87965298 - 87965298 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.421C >;p.H141N;10:87933180 - 87933180 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.593T >;p.M198K;10:87952218 - 87952218 |
乳房 | 癌 | 替换-错义 |
c.708_709insCGAAAGCC;p.K237fs * 22;10:87957926 - 87957927 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.452C >;p.A151D;10:87933211 - 87933211 |
甲状腺 | 癌;anaplastic_carcinoma | 替换-错义 |
c.593T >;p.M198K;10:87952218 - 87952218 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.382_395del14;p.K128fs * 47;10:87933141 - 87933154 |
子宫内膜 | 增生 | 删除——转移 |
c.675T > G;p.Y225 *;10:87957893 - 87957893 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.734_735ins13;p.Q245fs * 12;10:87957952 - 87957953 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.51A > G;p.Q17Q;10:87864520 - 87864520 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.511C >;p.Q171K;10:87952136 - 87952136 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.389_395delGAACTGG;p.R130fs * 2;10:87933148 - 87933154 |
子宫内膜 | 增生 | 删除——转移 |
c.469G > T;p.E157 *;10:87933228 - 87933228 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.341A > G;p.E114G;10:87933100 - 87933100 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.51A > G;p.Q17Q;10:87864520 - 87864520 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.672_673insT;p.Y225fs * 18;10:87957890 - 87957891 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.469G > T;p.E157 *;10:87933228 - 87933228 |
皮肤;腹部 | malignant_melanoma | 替换-胡说 |
c.703_704ins11;p.E235fs * 25;10:87957921 - 87957922 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.341A > G;p.E114G;10:87933100 - 87933100 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.469G > T;p.E157 *;10:87933228 - 87933228 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.417A > C;p.L139F;10:87933176 - 87933176 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.341A > G;p.E114G;10:87933100 - 87933100 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.511C >;p.Q171K;10:87952136 - 87952136 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.187delA;p.N63fs * 36;10:87925535 - 87925535 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.341A > G;p.E114G;10:87933100 - 87933100 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.628_634 + 18 del25;p。?。10:87952253 - 87952277 |
卵巢 | 癌;serous_carcinoma | 未知的 |
c.341A > G;p.E114G;10:87933100 - 87933100 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.385G > C;p.G129R;10:87933144 - 87933144 |
前列腺癌 | 癌 | 替换-错义 |
c.469G > T;p.E157 *;10:87933228 - 87933228 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.632_633insGC;p.C211fs * 11;10:87952257 - 87952258 |
central_nervous_system;髓质 | primitive_neuroectodermal_tumour-medulloblastoma;large_cell | 插入——转移 |
c.387_388insCGCC;p.G129fs * 51;10:87933146 - 87933147 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.743C > T;p.P248L;10:87957961 - 87957961 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.80_90del11;p.Y27fs * 1;10:87894025 - 87894035 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.794_795insA;p.D268fs * 30;10:87958012 - 87958013 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.442G >;p.A148T;10:87933201 - 87933201 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.505_508delCCCA;p.P169fs * 13;10:87952130 - 87952133 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.442G >;p.A148T;10:87933201 - 87933201 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.257_286del30;p.Q87_P96del;10:87933016 - 87933045 |
子宫内膜 | 癌;squamous_cell_carcinoma | 删除——在坐标系 |
c.529T > C;p.Y177H;10:87952154 - 87952154 |
肺 | 癌;腺癌 | 替换-错义 |
c.419T > G;p.L140 *;10:87933178 - 87933178 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.353_354insA;p.H118fs * 8;10:87933112 - 87933113 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.254-1G > C;p。?。10:87933012 - 87933012 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.117_120delAGAA;p.E40fs * 13;10:87894062 - 87894065 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.422A > G;p.H141R;10:87933181 - 87933181 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.419T > G;p.L140 *;10:87933178 - 87933178 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.353_354insA;p.H118fs * 8;10:87933112 - 87933113 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.267delT;p.F90fs * 9;10:87933026 - 87933026 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.217_220delGAAA;p.E73fs * 25;10:87931053 - 87931056 |
乳房 | 癌 | 删除——转移 |
c.419T > G;p.L140 *;10:87933178 - 87933178 |
乳房 | 癌 | 替换-胡说 |
c.742_743insC;p.P248fs * 5;10:87957960 - 87957961 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.422A > G;p.H141R;10:87933181 - 87933181 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.106G > T;p.G36 *;10:87894051 - 87894051 |
子宫内膜 | 癌;mixed_adenosquamous_carcinoma | 替换-胡说 |
c.158T > C;p.V53A;10:87894103 - 87894103 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.698_699insC;p.R234fs * 9;10:87957916 - 87957917 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.106G > T;p.G36 *;10:87894051 - 87894051 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.720C >;p.Y240 *;10:87957938 - 87957938 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.720C >;p.Y240 *;10:87957938 - 87957938 |
large_intestine;盲肠 | 癌;腺癌 | 替换-胡说 |
c.741A > C;p.L247F;10:87957959 - 87957959 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.397G >;p.V133I;10:87933156 - 87933156 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.575delC;p.A192fs * 7;10:87952200 - 87952200 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.720C >;p.Y240 *;10:87957938 - 87957938 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.700_701ins14;p.R234fs * 27个;10:87957918 - 87957919 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.754_755insGTGGT;p.D252fs * 6;10:87957972 - 87957973 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.106G > T;p.G36 *;10:87894051 - 87894051 |
肺;right_upper_lobe | 癌;腺癌 | 替换-胡说 |
c.397G >;p.V133I;10:87933156 - 87933156 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.309C >;p.P103P;10:87933068 - 87933068 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.413A > G;p.Y138C;10:87933172 - 87933172 |
肺 | 癌;small_cell_carcinoma | 替换-错义 |
c.16A > G;p.K6E;10:87864485 - 87864485 |
胃 | 癌;腺癌 | 替换-错义 |
c.194A > G;p.Y65C;10:87925542 - 87925542 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.9_30del22;p.A3fs * 14;10:87864478 - 87864499 |
子宫内膜 | 癌 | 删除——转移 |
c.413A > G;p.Y138C;10:87933172 - 87933172 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.106G > T;p.G36 *;10:87894051 - 87894051 |
胃 | 癌;腺癌 | 替换-胡说 |
c.234C >;p.T78T;10:87931070 - 87931070 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.448G > T;p.E150 *;10:87933207 - 87933207 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.448G > T;p.E150 *;10:87933207 - 87933207 |
large_intestine;盲肠 | 癌;腺癌 | 替换-胡说 |
c.755A > G;p.D252G;10:87957973 - 87957973 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.592A > G;p.M198V;10:87952217 - 87952217 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.448G > T;p.E150 *;10:87933207 - 87933207 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.91A > C;p.N31H;10:87894036 - 87894036 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.287C >;p.P96Q;10:87933046 - 87933046 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.549_550insA;p.K183fs * 6;10:87952174 - 87952175 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.764T > C;p.V255A;10:87957982 - 87957982 |
肝 | 癌;hepatocellular_carcinoma | 替换-错义 |
c.755A > G;p.D252G;10:87957973 - 87957973 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.120_121delAA;p.R41fs * 2;10:87894065 - 87894066 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.611delC;p.P204fs * 17;10:87952236 - 87952236 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.1124A > G;p.D375G;10:87965384 - 87965384 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.448G > T;p.E150 *;10:87933207 - 87933207 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.764T > C;p.V255A;10:87957982 - 87957982 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.344delA;p.D115fs * 19;10:87933103 - 87933103 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.55G >;p.D19N;10:87864524 - 87864524 |
皮肤 | malignant_melanoma | 替换-错义 |
c.536G > T;p.S179I;10:87952161 - 87952161 |
子宫内膜 | 癌 | 替换-错义 |
c.44G > T;p.R15I;10:87864513 - 87864513 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.356T > C;p.V119A;10:87933115 - 87933115 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.433_438delTTTTTA;p.F145_L146del;10:87933192 - 87933197 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.883C > T;p.L295L;10:87960975 - 87960975 |
肺 | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.901delG;p.D301fs * 6;10:87960993 - 87960993 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.2_13 > 14;p.M1fs * 24;10:87864471 - 87864482 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 复杂——转移 |
c.219_222delAAGA;p.E73fs * 25;10:87931055 - 87931058 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.356T > C;p.V119A;10:87933115 - 87933115 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.356T > C;p.V119A;10:87933115 - 87933115 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.44G > T;p.R15I;10:87864513 - 87864513 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.115G >;p.A39T;10:87894060 - 87894060 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.955_957delACT;p.T319del;10:87961047 - 87961049 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.44G > T;p.R15I;10:87864513 - 87864513 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.955_957delACT;p.T319del;10:87961047 - 87961049 |
central_nervous_system;大脑 | 神经胶质瘤 | 删除——在坐标系 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌 | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 增生 | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
large_intestine;盲肠 | 癌;腺癌 | 删除——转移 |
c.751G > T;p.G251C;10:87957969 - 87957969 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.165_166insT;p.L57fs * 6;10:87925513 - 87925514 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.483A > G;p.R161R;10:87933242 - 87933242 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.483A > G;p.R161R;10:87933242 - 87933242 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.407G > T;p.C136F;10:87933166 - 87933166 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.483A > G;p.R161R;10:87933242 - 87933242 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.588_589insC;p.K197fs * 5;10:87952213 - 87952214 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 插入——转移 |
c.407G > T;p.C136F;10:87933166 - 87933166 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.696_697insA;p.R233fs * 10;10:87957914 - 87957915 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.696_697insA;p.R233fs * 10;10:87957914 - 87957915 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.131_139GCGTATACA > ACAGAAAGACA;p.G44fs * 11;10:87894076 - 87894084 |
前列腺癌 | 癌;腺癌 | 复杂——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
large_intestine;直肠 | 癌;腺癌 | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.407G > T;p.C136F;10:87933166 - 87933166 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.879A > G;p.G293G;10:87960971 - 87960971 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.751G > T;p.G251C;10:87957969 - 87957969 |
肺 | 癌;non_small_cell_carcinoma | 替换-错义 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌;carcinosarcoma-malignant_mesodermal_mixed_tumour | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
甲状腺 | 癌;follicular_carcinoma | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.696_697insGGGACTTA;p.R233fs * 26;10:87957914 - 87957915 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.483A > G;p.R161R;10:87933242 - 87933242 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌 | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.879A > G;p.G293G;10:87960971 - 87960971 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.404delT;p.I135fs * 12;10:87933163 - 87933163 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.967_968ins37;p.N323fs * 7;10:87961059 - 87961060 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
卵巢 | 癌;endometrioid_carcinoma | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.407G > T;p.C136F;10:87933166 - 87933166 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.407G > T;p.C136F;10:87933166 - 87933166 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.407G > T;p.C136F;10:87933166 - 87933166 |
脑膜 | 脑膜瘤;未分化 | 替换-错义 |
c.751G > T;p.G251C;10:87957969 - 87957969 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.879A > G;p.G293G;10:87960971 - 87960971 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.483A > G;p.R161R;10:87933242 - 87933242 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.697_698insG;p.R234fs * 9;10:87957915 - 87957916 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.696_697insA;p.R233fs * 10;10:87957914 - 87957915 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
卵巢 | 癌;endometrioid_carcinoma | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
阴户 | 癌;squamous_cell_carcinoma | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌 | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.751G > T;p.G251C;10:87957969 - 87957969 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.968delA;p.N323fs * 21;10:87961060 - 87961060 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.871G >;p.E291K;10:87960963 - 87960963 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.107G > T;p.G36V;10:87894052 - 87894052 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.731C > G;p.P244R;10:87957949 - 87957949 |
urinary_tract;膀胱 | 癌;transitional_cell_carcinoma | 替换-错义 |
c.1026 43 + g >;p。?。10:87961161 - 87961161 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm;follicular_lymphoma | 未知的 |
c.44_60del17;p.R15fs * 23;10:87864513 - 87864529 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.731C > G;p.P244R;10:87957949 - 87957949 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.388_388delC;p.R130fs * 4;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.871G >;p.E291K;10:87960963 - 87960963 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.80 - 152 G >;p。?。10:87893873 - 87893873 |
皮肤 | malignant_melanoma;结节性 | 未知的 |
c.823G > T;p.V275L;10:87960915 - 87960915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.823G > T;p.V275L;10:87960915 - 87960915 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.107G > T;p.G36V;10:87894052 - 87894052 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.871G >;p.E291K;10:87960963 - 87960963 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.76A > G;p.T26A;10:87864545 - 87864545 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.56_57insGT;p.D19fs * 6;10:87864525 - 87864526 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.1 - 225 g > A;p。?。10:87864245 - 87864245 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 未知的 |
c.179A > C;p.K60T;10:87925527 - 87925527 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.59G >;p.G20E;10:87864528 - 87864528 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1016_1017insA;p.N340fs * 3;10:87961108 - 87961109 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.1008C >;p.Y336 *;10:87961100 - 87961100 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.180_181ins ?;p.K60fs * 9;10:87925528 - 87925529 |
乳房 | 癌 | 插入——转移 |
c.371G >;p.C124Y;10:87933130 - 87933130 |
胃 | 癌;腺癌 | 替换-错义 |
c.1008C >;p.Y336 *;10:87961100 - 87961100 |
子宫内膜 | 癌 | 替换-胡说 |
c.303C > G;p.I101M;10:87933062 - 87933062 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.1008C >;p.Y336 *;10:87961100 - 87961100 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.810G >;p.M270I;10:87960902 - 87960902 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.97_100delATTG;p.I33fs * 20;10:87894042 - 87894045 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.810G >;p.M270I;10:87960902 - 87960902 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.334C >;p.L112I;10:87933093 - 87933093 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.1008C >;p.Y336 *;10:87961100 - 87961100 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.858_865delCTCAGAAA;p.E288fs * 7;10:87960950 - 87960957 |
乳房 | 癌 | 删除——转移 |
c.199_201delATA;p.I67del;10:87925547 - 87925549 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.381_387delAAAGGGA;p.K128fs * 4;10:87933140 - 87933146 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 删除——转移 |
c.802-1G > T;p。?。10:87960893 - 87960893 |
large_intestine;结肠 | 癌;腺癌 | 未知的 |
c.218delA;p.R74fs * 25;10:87931054 - 87931054 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.1008C >;p.Y336 *;10:87961100 - 87961100 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.714_715ins12;p.F238_M239insFIT *;10:87957932 - 87957933 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——在坐标系 |
c.1015C > T;p.P339S;10:87961107 - 87961107 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.281A > T;p.N94I;10:87933040 - 87933040 |
upper_aerodigestive_tract;咽 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.444A > G;p.A148A;10:87933203 - 87933203 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.281A > T;p.N94I;10:87933040 - 87933040 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.444A > G;p.A148A;10:87933203 - 87933203 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.1015C > T;p.P339S;10:87961107 - 87961107 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.724_725insTCCTTAG;p.E242fs * 13;10:87957942 - 87957943 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.444A > G;p.A148A;10:87933203 - 87933203 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.492 + 1 g > T;p。?。10:87933252 - 87933252 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.176C > G;p.S59 *;10:87925524 - 87925524 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.1043C > T;p.T348I;10:87965303 - 87965303 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.209 + 1 g > T;p。?。10:87925558 - 87925558 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.709_710insGAAAGCCA;p.K237fs * 22;10:87957927 - 87957928 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.209_209 + 1 deltg;p。?。10:87925557 - 87925558 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.176C > G;p.S59 *;10:87925524 - 87925524 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.209 + 1 g > T;p。?。10:87925558 - 87925558 |
central_nervous_system;大脑 | 神经胶质瘤 | 未知的 |
c.312_313insT;p.C105fs * 2;10:87933071 - 87933072 |
子宫内膜 | 癌;endometrioid_carcinoma | 复杂——转移 |
c.1015C > T;p.P339S;10:87961107 - 87961107 |
甲状腺 | 癌;anaplastic_carcinoma | 替换-错义 |
c.232A > G;p.T78A;10:87931068 - 87931068 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.898delA;p.I300fs * 7;10:87960990 - 87960990 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.444A > G;p.A148A;10:87933203 - 87933203 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.492 + 1 g > T;p。?。10:87933252 - 87933252 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.967_968delAA;p.N323fs * 1;10:87961059 - 87961060 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.94_96delATT;p.I32del;10:87894039 - 87894041 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.592delA;p.M198fs * 1;10:87952217 - 87952217 |
子宫内膜 | 癌 | 删除——转移 |
c.381A > G;p.G127G;10:87933140 - 87933140 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.956_959delCTTT;p.T319fs * 24;10:87961048 - 87961051 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.38_40delAAA;p.K13del;10:87864507 - 87864509 |
子宫内膜 | 癌;腺癌 | 删除——在坐标系 |
c.94_96delATT;p.I32del;10:87894039 - 87894041 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.94_96delATT;p.I32del;10:87894039 - 87894041 |
胰腺 | 癌;acinar_carcinoma | 删除——在坐标系 |
c.94_96delATT;p.I32del;10:87894039 - 87894041 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.227_228insT;p.D77fs * 1;10:87931063 - 87931064 |
皮肤 | malignant_melanoma | 插入——转移 |
c.94_96delATT;p.I32del;10:87894039 - 87894041 |
子宫内膜 | 癌 | 删除——在坐标系 |
c.956_959delCTTT;p.T319fs * 24;10:87961048 - 87961051 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.956_959delCTTT;p.T319fs * 24;10:87961048 - 87961051 |
central_nervous_system;大脑 | 神经胶质瘤 | 删除——转移 |
c.227_228insT;p.D77fs * 1;10:87931063 - 87931064 |
皮肤 | malignant_melanoma | 插入——转移 |
c.371G > T;p.C124F;10:87933130 - 87933130 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.94_96delATT;p.I32del;10:87894039 - 87894041 |
NS | malignant_melanoma | 删除——在坐标系 |
c.381A > G;p.G127G;10:87933140 - 87933140 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.48T >;p.Y16 *;10:87864517 - 87864517 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.692_693insTGCT;p.T232fs * 12;10:87957910 - 87957911 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.956_959delCTTT;p.T319fs * 24;10:87961048 - 87961051 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.531_533delTTA;p.Y178del;10:87952156 - 87952158 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.956_959delCTTT;p.T319fs * 24;10:87961048 - 87961051 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.737_738insCC;p.L247fs * 10;10:87957955 - 87957956 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.1211G > C;p。* 404年代;10:87965471 - 87965471 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 不间断的扩展 |
c.1026 + 23 t > G;p。?。10:87961141 - 87961141 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.381A > G;p.G127G;10:87933140 - 87933140 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.228T > G;p.Y76 *;10:87931064 - 87931064 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.956_959delCTTT;p.T319fs * 24;10:87961048 - 87961051 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.94_96delATT;p.I32del;10:87894039 - 87894041 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.144C >;p.N48K;10:87894089 - 87894089 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.677C > T;p.S226F;10:87957895 - 87957895 |
皮肤;粘膜 | malignant_melanoma | 替换-错义 |
c.462C > T;p.F154F;10:87933221 - 87933221 |
皮肤 | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.387delA;p.G129fs * 5;10:87933146 - 87933146 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.631_632insG;p.C211fs * 32;10:87952256 - 87952257 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.303C > T;p.I101I;10:87933062 - 87933062 |
子宫内膜 | 增生;complex-atypical | 替换-编码沉默 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
乳房 | 癌 | 替换-错义 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.442G > T;p.A148S;10:87933201 - 87933201 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
乳房 | 癌 | 替换-错义 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.227A > G;p.Y76C;10:87931063 - 87931063 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
genital_tract;extragonadal | germ_cell_tumour;混合 | 替换-错义 |
c.700C > G;p.R234G;10:87957918 - 87957918 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
乳房 | 癌 | 替换-错义 |
c.799delA;p.K267fs * 9;10:87958017 - 87958017 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.462C > T;p.F154F;10:87933221 - 87933221 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-编码沉默 |
c.387delA;p.G129fs * 5;10:87933146 - 87933146 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.799delA;p.K267fs * 9;10:87958017 - 87958017 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.812T > C;p.F271S;10:87960904 - 87960904 |
皮肤;手臂 | malignant_melanoma | 替换-错义 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
NS | NS | 替换-错义 |
c.407G >;p.C136Y;10:87933166 - 87933166 |
乳房 | 癌;luminal_NS_carcinoma | 替换-错义 |
c.408_409insGGNATG;p.C136_A137insGM;10:87933167 - 87933168 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——在坐标系 |
c.45A > G;p.R15R;10:87864514 - 87864514 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.404T >;p.I135K;10:87933163 - 87933163 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.269T > C;p.F90S;10:87933028 - 87933028 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.45A > G;p.R15R;10:87864514 - 87864514 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.269T > C;p.F90S;10:87933028 - 87933028 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.365T > C;p.I122T;10:87933124 - 87933124 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.45A > G;p.R15R;10:87864514 - 87864514 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.566G >;p.R189K;10:87952191 - 87952191 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.404T >;p.I135K;10:87933163 - 87933163 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.365T > C;p.I122T;10:87933124 - 87933124 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.307C > T;p.P103S;10:87933066 - 87933066 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.45A > G;p.R15R;10:87864514 - 87864514 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.404T >;p.I135K;10:87933163 - 87933163 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.365T > C;p.I122T;10:87933124 - 87933124 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.321_326delTCTTGA;p.L108_D109del;10:87933080 - 87933085 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.825A > T;p.V275V;10:87960917 - 87960917 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.321_326delTCTTGA;p.L108_D109del;10:87933080 - 87933085 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.970_971insG;p.D324fs * 3;10:87961062 - 87961063 |
乳房 | 癌;ER-PR-positive_carcinoma | 插入——转移 |
c.404T >;p.I135K;10:87933163 - 87933163 |
乳房 | 癌 | 替换-错义 |
c.566G >;p.R189K;10:87952191 - 87952191 |
urinary_tract;膀胱 | 癌;transitional_cell_carcinoma | 替换-错义 |
c.809T > C;p.M270T;10:87960901 - 87960901 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.498_568 > 70;p.V166fs * 17;10:87952123 - 87952193 |
子宫内膜 | 其他;solitary_cyst | 复杂——转移 |
c.29G >;p.S10N;10:87864498 - 87864498 |
肺 | 癌;腺癌 | 替换-错义 |
c.597delG;p.M199fs * 22;10:87952222 - 87952222 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.99_107del9;p.A34_G36del;10:87894044 - 87894052 |
胃 | 癌;diffuse_adenocarcinoma | 删除——在坐标系 |
c.29G >;p.S10N;10:87864498 - 87864498 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm;diffuse_large_B_cell_lymphoma | 替换-错义 |
c.914G >;p.S305N;10:87961006 - 87961006 |
肺 | 癌;腺癌 | 替换-错义 |
c.498_568 > 70;p.V166fs * 17;10:87952123 - 87952193 |
子宫内膜 | 其他;solitary_cyst | 复杂——转移 |
c.498_568 > 70;p.V166fs * 17;10:87952123 - 87952193 |
子宫内膜 | 癌;clear_cell_carcinoma | 复杂——转移 |
c.883_884delCT;p.L295fs * 2;10:87960975 - 87960976 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.401T > G;p.M134R;10:87933160 - 87933160 |
子宫内膜 | 癌 | 替换-错义 |
c.446A > G;p.Q149R;10:87933205 - 87933205 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.235G >;p.A79T;10:87931071 - 87931071 |
皮肤 | malignant_melanoma | 替换-错义 |
c.910T > C;p.C304R;10:87961002 - 87961002 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.235G >;p.A79T;10:87931071 - 87931071 |
central_nervous_system;大脑 | 神经胶质瘤;oligodendroglioma_Grade_II | 替换-错义 |
c.45A > C;p.R15S;10:87864514 - 87864514 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.235G >;p.A79T;10:87931071 - 87931071 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.401T > G;p.M134R;10:87933160 - 87933160 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.1004_1014del11;p.R335fs * 4;10:87961096 - 87961106 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.396delT;p.G132fs * 2;10:87933155 - 87933155 |
子宫内膜 | 癌 | 删除——转移 |
c.182A > G;p.H61R;10:87925530 - 87925530 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_II | 替换-错义 |
c.165-8insT;p。?。10:87925505 - 87925506 |
阴户 | 癌;squamous_cell_carcinoma | 未知的 |
c.37A > C;p.K13Q;10:87864506 - 87864506 |
子宫内膜 | 癌 | 替换-错义 |
c.17_18delAA;p.K6fs * 4;10:87864486 - 87864487 |
子宫内膜 | 癌;mixed_serous_and_endometrioid_carcinoma | 删除——转移 |
c.700_701insAA;p.R234fs * 23;10:87957918 - 87957919 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.17_18delAA;p.K6fs * 4;10:87864486 - 87864487 |
前列腺癌 | 癌;腺癌 | 删除——转移 |
c.1026 + 1 g > T;p。?。10:87961119 - 87961119 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.182A > G;p.H61R;10:87925530 - 87925530 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.1026 + 1 g > T;p。?。10:87961119 - 87961119 |
central_nervous_system;大脑 | 神经胶质瘤 | 未知的 |
c.182A > G;p.H61R;10:87925530 - 87925530 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.1026 + 1 g > T;p。?。10:87961119 - 87961119 |
central_nervous_system;大脑 | 神经胶质瘤 | 未知的 |
c.37A > T;p.K13 *;10:87864506 - 87864506 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.459delT;p.F154fs * 5;10:87933218 - 87933218 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.17_18delAA;p.K6fs * 4;10:87864486 - 87864487 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.182A > G;p.H61R;10:87925530 - 87925530 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.182A > G;p.H61R;10:87925530 - 87925530 |
肺 | 癌;small_cell_carcinoma | 替换-错义 |
c.697delC;p.R233fs * 23;10:87957915 - 87957915 |
卵巢 | 癌;serous_carcinoma | 删除——转移 |
c.23delT;p.I8fs * 16;10:87864492 - 87864492 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.17_18delAA;p.K6fs * 4;10:87864486 - 87864487 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.17_18delAA;p.K6fs * 4;10:87864486 - 87864487 |
皮肤 | malignant_melanoma | 删除——转移 |
c.182A > G;p.H61R;10:87925530 - 87925530 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.182A > G;p.H61R;10:87925530 - 87925530 |
肺 | 癌;small_cell_carcinoma | 替换-错义 |
c.17_18delAA;p.K6fs * 4;10:87864486 - 87864487 |
central_nervous_system;大脑 | 神经胶质瘤;oligodendroglioma_Grade_III | 删除——转移 |
c.182A > G;p.H61R;10:87925530 - 87925530 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.437T > G;p.L146 *;10:87933196 - 87933196 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.878G > T;p.G293V;10:87960970 - 87960970 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌 | 插入——转移 |
c.47A > G;p.Y16C;10:87864516 - 87864516 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;diffuse_large_B_cell_lymphoma | 替换-错义 |
c.1146C > T;p.T382T;10:87965406 - 87965406 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.414T >;p.Y138 *;10:87933173 - 87933173 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.892C > T;p.Q298 *;10:87960984 - 87960984 |
子宫内膜 | 增生;complex-atypical | 替换-胡说 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
large_intestine | 癌;腺癌 | 插入——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌 | 插入——转移 |
c.610C >;p.P204T;10:87952235 - 87952235 |
胃 | 癌;腺癌 | 替换-错义 |
c.13A > C;p.I5L;10:87864482 - 87864482 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.892C > T;p.Q298 *;10:87960984 - 87960984 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌 | 插入——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
前列腺癌 | 癌 | 插入——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.253 + 1 g >;p。?。10:87931090 - 87931090 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌 | 插入——转移 |
c.953_956delTTAC;p.L318fs * 2;10:87961045 - 87961048 |
卵巢 | 癌;endometrioid_carcinoma | 删除——转移 |
c.209 + 4 > T;p。?。10:87925561 - 87925561 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
large_intestine | 癌;腺癌 | 插入——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.892C > T;p.Q298 *;10:87960984 - 87960984 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-胡说 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.1094T >;p.V365E;10:87965354 - 87965354 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.47A > G;p.Y16C;10:87864516 - 87864516 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
large_intestine | 癌;腺癌 | 插入——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.187_188delAA;p.N63fs * 10;10:87925535 - 87925536 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.273_273delA;p.D92fs * 7;10:87933032 - 87933032 |
子宫颈 | 癌;squamous_cell_carcinoma | 删除——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.892C > T;p.Q298 *;10:87960984 - 87960984 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.253 + 1 g >;p。?。10:87931090 - 87931090 |
子宫内膜 | 癌 | 未知的 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.253 + 1 g >;p。?。10:87931090 - 87931090 |
子宫内膜 | 癌 | 未知的 |
c.953_956delTTAC;p.L318fs * 2;10:87961045 - 87961048 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;腺癌 | 插入——转移 |
c.610C >;p.P204T;10:87952235 - 87952235 |
胃 | 癌;腺癌 | 替换-错义 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
乳房 | 癌;ductal_carcinoma | 插入——转移 |
c.187_188delAA;p.N63fs * 10;10:87925535 - 87925536 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.187_188delAA;p.N63fs * 10;10:87925535 - 87925536 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
large_intestine | 癌;腺癌 | 插入——转移 |
c.652_653insA;p.C218fs * 1;10:87957870 - 87957871 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.953_956delTTAC;p.L318fs * 2;10:87961045 - 87961048 |
子宫内膜 | 增生;非典型的 | 删除——转移 |
c.253 + 1 g >;p。?。10:87931090 - 87931090 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.253 + 1 g >;p。?。10:87931090 - 87931090 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.892C > T;p.Q298 *;10:87960984 - 87960984 |
子宫内膜 | 癌 | 替换-胡说 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.18A > C;p.K6N;10:87864487 - 87864487 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.953_956delTTAC;p.L318fs * 2;10:87961045 - 87961048 |
乳房 | 癌;ER-PR-positive_carcinoma | 删除——转移 |
c.892C > T;p.Q298 *;10:87960984 - 87960984 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.892C > T;p.Q298 *;10:87960984 - 87960984 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.968_969insA;p.N323fs * 2;10:87961060 - 87961061 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.210-39A > G;p。?。10:87931007 - 87931007 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.494G >;p.G165E;10:87952119 - 87952119 |
肺 | 癌;small_cell_carcinoma | 替换-错义 |
c.494G >;p.G165E;10:87952119 - 87952119 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.494G >;p.G165E;10:87952119 - 87952119 |
central_nervous_system;大脑 | 神经胶质瘤;oligodendroglioma_Grade_III | 替换-错义 |
c.494G >;p.G165E;10:87952119 - 87952119 |
central_nervous_system;大脑 | primitive_neuroectodermal_tumour-medulloblastoma | 替换-错义 |
c.494G >;p.G165E;10:87952119 - 87952119 |
胰腺 | carcinoid-endocrine_tumour | 替换-错义 |
c.590A > G;p.K197R;10:87952215 - 87952215 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.165-1G >;p。?。10:87925512 - 87925512 |
乳房 | 癌;ER-PR-positive_carcinoma | 未知的 |
c.1026 + 1 g > C;p。?。10:87961119 - 87961119 |
皮肤 | malignant_melanoma | 未知的 |
c.201_202insTAT;p.I67_Y68insY;10:87925549 - 87925550 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——在坐标系 |
c.494G >;p.G165E;10:87952119 - 87952119 |
皮肤 | malignant_melanoma | 替换-错义 |
c.361_435del75;p.A121_F145del;10:87933120 - 87933194 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.538T >;p.Y180N;10:87952163 - 87952163 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.376G > T;p.A126S;10:87933135 - 87933135 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.165-1G >;p。?。10:87925512 - 87925512 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.494G >;p.G165E;10:87952119 - 87952119 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.753_754insCACGTGCG;p.D252fs * 7;10:87957971 - 87957972 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.376G > T;p.A126S;10:87933135 - 87933135 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.1013_1026 + 4 del18;p。?。10:87961105 - 87961122 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.376G > T;p.A126S;10:87933135 - 87933135 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.165-1G >;p。?。10:87925512 - 87925512 |
large_intestine;盲肠 | 癌;腺癌 | 未知的 |
c.83delT;p.Y29fs * 25;10:87894028 - 87894028 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.509G >;p.S170N;10:87952134 - 87952134 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1133_1136delGATA;p.R378fs * 25;10:87965393 - 87965396 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.159A > G;p.V53V;10:87894104 - 87894104 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.353A > T;p.H118L;10:87933112 - 87933112 |
皮肤 | malignant_melanoma | 替换-错义 |
c.89delC;p.P30fs * 24;10:87894034 - 87894034 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.862G > T;p.E288 *;10:87960954 - 87960954 |
肝 | 癌 | 替换-胡说 |
c.127G > T;p.E43 *;10:87894072 - 87894072 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1133_1136delGATA;p.R378fs * 25;10:87965393 - 87965396 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.509G >;p.S170N;10:87952134 - 87952134 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.737C > G;p.P246R;10:87957955 - 87957955 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.509G >;p.S170N;10:87952134 - 87952134 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.509G >;p.S170N;10:87952134 - 87952134 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.509G >;p.S170N;10:87952134 - 87952134 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.509G >;p.S170N;10:87952134 - 87952134 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.127G > T;p.E43 *;10:87894072 - 87894072 |
食道;lower_third | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.862G > T;p.E288 *;10:87960954 - 87960954 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.509G >;p.S170N;10:87952134 - 87952134 |
biliary_tract;bile_duct | 癌;腺癌 | 替换-错义 |
c.862G > T;p.E288 *;10:87960954 - 87960954 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.862G > T;p.E288 *;10:87960954 - 87960954 |
卵巢 | 癌 | 替换-胡说 |
c.824T > C;p.V275A;10:87960916 - 87960916 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.365T >;p.I122N;10:87933124 - 87933124 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.509G >;p.S170N;10:87952134 - 87952134 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.42_52del11;p.R14fs * 26;10:87864511 - 87864521 |
central_nervous_system;大脑 | 神经胶质瘤;gliosarcoma | 删除——转移 |
c.277C > T;p.H93Y;10:87933036 - 87933036 |
central_nervous_system;大脑 | primitive_neuroectodermal_tumour-medulloblastoma | 替换-错义 |
c.202T >;p.Y68N;10:87925550 - 87925550 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.216_217insGAAA;p.H75fs * 4;10:87931052 - 87931053 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.383A > G;p.K128R;10:87933142 - 87933142 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.946_968del23;p.L316fs * 1;10:87961038 - 87961060 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.277C > T;p.H93Y;10:87933036 - 87933036 |
子宫内膜 | 癌 | 替换-错义 |
c.202T >;p.Y68N;10:87925550 - 87925550 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.198G > T;p.K66N;10:87925546 - 87925546 |
子宫内膜 | 癌;serous_carcinoma | 替换-错义 |
c.277C > T;p.H93Y;10:87933036 - 87933036 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.58G > T;p.G20 *;10:87864527 - 87864527 |
前列腺癌 | 癌;腺癌 | 替换-胡说 |
c.383A > G;p.K128R;10:87933142 - 87933142 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.277C > T;p.H93Y;10:87933036 - 87933036 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.383A > G;p.K128R;10:87933142 - 87933142 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.198G > T;p.K66N;10:87925546 - 87925546 |
食道;lower_third | 癌;腺癌 | 替换-错义 |
c.383A > G;p.K128R;10:87933142 - 87933142 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.277C > T;p.H93Y;10:87933036 - 87933036 |
子宫内膜 | 癌 | 替换-错义 |
c.929A > G;p.D310G;10:87961021 - 87961021 |
肝 | 癌 | 替换-错义 |
c.198G > T;p.K66N;10:87925546 - 87925546 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.383A > G;p.K128R;10:87933142 - 87933142 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.383A > G;p.K128R;10:87933142 - 87933142 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.198G > T;p.K66N;10:87925546 - 87925546 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.198G > T;p.K66N;10:87925546 - 87925546 |
central_nervous_system;大脑 | 神经胶质瘤;gliosarcoma | 替换-错义 |
c.301_303delATC;p.I101del;10:87933060 - 87933062 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.738_739insGT;p.P246fs * 10;10:87957956 - 87957957 |
子宫内膜 | 增生;非典型的 | 插入——转移 |
c.188_193delACCATT;p.H64_Y65delHY;10:87925536 - 87925541 |
乳房 | 癌 | 删除——在坐标系 |
c.98T > G;p.I33S;10:87894043 - 87894043 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.272A > C;p.E91A;10:87933031 - 87933031 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.314G >;p.C105Y;10:87933073 - 87933073 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.700C > T;p.R234W;10:87957918 - 87957918 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.572delT;p.V191fs * 8;10:87952197 - 87952197 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.1019_1020insT;p.K342fs * 1;10:87961111 - 87961112 |
large_intestine;结肠 | 癌;腺癌 | 插入——转移 |
c.329A > G;p.Q110R;10:87933088 - 87933088 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1026 + 1 g > T;p。?。10:87961119 - 87961119 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.736_737insT;p.P246fs * 7;10:87957954 - 87957955 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.817T > C;p.F273L;10:87960909 - 87960909 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.564T > G;p.Y188 *;10:87952189 - 87952189 |
子宫内膜 | 癌 | 替换-胡说 |
c.329A > G;p.Q110R;10:87933088 - 87933088 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.314G >;p.C105Y;10:87933073 - 87933073 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.700C > T;p.R234W;10:87957918 - 87957918 |
阴户 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.700C > T;p.R234W;10:87957918 - 87957918 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.651delC;p.C218fs * 3;10:87957869 - 87957869 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.314G >;p.C105Y;10:87933073 - 87933073 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.700C > T;p.R234W;10:87957918 - 87957918 |
阴户 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.98T > G;p.I33S;10:87894043 - 87894043 |
子宫内膜 | 癌 | 替换-错义 |
c.176_189del14;p.K60fs * 9;10:87925524 - 87925537 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.314G >;p.C105Y;10:87933073 - 87933073 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.738_741delGTTA;p.P248fs * 7;10:87957956 - 87957959 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 删除——转移 |
c.165-16T > C;p。?。10:87925497 - 87925497 |
阴户 | 癌;squamous_cell_carcinoma | 未知的 |
c.463T >;p.Y155N;10:87933222 - 87933222 |
卵巢 | 癌 | 替换-错义 |
c.1000A > T;p.N334Y;10:87961092 - 87961092 |
soft_tissue;fibrous_tissue_and_uncertain_o | alveolar_soft_part_sarcoma | 替换-错义 |
c.333G >;p.W111 *;10:87933092 - 87933092 |
前列腺癌 | 癌;腺癌 | 替换-胡说 |
c.465T > C;p.Y155Y;10:87933224 - 87933224 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.333G >;p.W111 *;10:87933092 - 87933092 |
large_intestine;盲肠 | 癌;腺癌 | 替换-胡说 |
c.79T > G;p.Y27D;10:87864548 - 87864548 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.333G >;p.W111 *;10:87933092 - 87933092 |
子宫内膜 | 癌 | 替换-胡说 |
c.79T > G;p.Y27D;10:87864548 - 87864548 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.79T > G;p.Y27D;10:87864548 - 87864548 |
乳房 | 癌 | 替换-错义 |
c.218A > T;p.E73V;10:87931054 - 87931054 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.653_654GC > AA;p.C218 *;10:87957871 - 87957872 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.386G >;p.G129E;10:87933145 - 87933145 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.386G >;p.G129E;10:87933145 - 87933145 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.333G >;p.W111 *;10:87933092 - 87933092 |
皮肤;肢端的 | malignant_melanoma;acral_lentiginous | 替换-胡说 |
c.207_208delTC;p.A72fs * 1;10:87925555 - 87925556 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.574G >;p.A192T;10:87952199 - 87952199 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.333G >;p.W111 *;10:87933092 - 87933092 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.802-29T > C;p。?。10:87960865 - 87960865 |
食管 | 癌;squamous_cell_carcinoma | 未知的 |
c.79T > G;p.Y27D;10:87864548 - 87864548 |
胃 | 癌;腺癌 | 替换-错义 |
c.386G >;p.G129E;10:87933145 - 87933145 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.49C > T;p.Q17 *;10:87864518 - 87864518 |
肺 | 癌;腺癌 | 替换-胡说 |
c.743C > G;p.P248 ?;10:87957961 - 87957961 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.405_406delAT;p.I135fs * 44;10:87933164 - 87933165 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.457_458insT;p.D153fs * 27个;10:87933216 - 87933217 |
皮肤 | 癌;squamous_cell_carcinoma | 插入——转移 |
c.485A > T;p.D162V;10:87933244 - 87933244 |
皮肤;腹部 | malignant_melanoma | 替换-错义 |
c.977A > G;p.D326G;10:87961069 - 87961069 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.49C > T;p.Q17 *;10:87864518 - 87864518 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.519C > T;p.R173R;10:87952144 - 87952144 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.921G >;p.E307E;10:87961013 - 87961013 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm | 替换-编码沉默 |
c.519C > T;p.R173R;10:87952144 - 87952144 |
子宫内膜 | 癌;腺癌 | 替换-编码沉默 |
c.977A > G;p.D326G;10:87961069 - 87961069 |
central_nervous_system;大脑 | 神经胶质瘤;oligodendroglioma_Grade_III | 替换-错义 |
c.49C > T;p.Q17 *;10:87864518 - 87864518 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.743C > G;p.P248 ?;10:87957961 - 87957961 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.688G >;p.G230R;10:87957906 - 87957906 |
salivary_gland | 癌;腺癌 | 替换-错义 |
c.49C > T;p.Q17 *;10:87864518 - 87864518 |
乳房 | 癌;ductal_carcinoma | 替换-胡说 |
c.49C > T;p.Q17 *;10:87864518 - 87864518 |
肺 | 癌;腺癌 | 替换-胡说 |
c.49C > T;p.Q17 *;10:87864518 - 87864518 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;plasma_cell_myeloma | 替换-胡说 |
c.49C > T;p.Q17 *;10:87864518 - 87864518 |
肺 | 癌;腺癌 | 替换-胡说 |
c.640_664del25;p.Q214fs * 1;10:87957858 - 87957882 |
子宫内膜 | 癌;carcinosarcoma-malignant_mesodermal_mixed_tumour | 删除——转移 |
c.46_65del20;p.Y16fs * 21;10:87864515 - 87864534 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.743_744insAGTTACC;p.C250fs * 5;10:87957961 - 87957962 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.49C > T;p.Q17 *;10:87864518 - 87864518 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.485A > T;p.D162V;10:87933244 - 87933244 |
皮肤 | malignant_melanoma | 替换-错义 |
c.743C > G;p.P248 ?;10:87957961 - 87957961 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.109T > C;p.F37L;10:87894054 - 87894054 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.101C > T;p.A34V;10:87894046 - 87894046 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.977A > G;p.D326G;10:87961069 - 87961069 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.49C > T;p.Q17 *;10:87864518 - 87864518 |
肾脏 | 癌;papillary_renal_cell_carcinoma | 替换-胡说 |
c.688G >;p.G230R;10:87957906 - 87957906 |
甲状腺 | 癌;anaplastic_carcinoma | 替换-错义 |
c.743C > G;p.P248 ?;10:87957961 - 87957961 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.546_549delAAAG;p.L182fs * 16;10:87952171 - 87952174 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.142delA;p.N48fs * 6;10:87894087 - 87894087 |
乳房 | 癌 | 删除——转移 |
c.84T > G;p.I28M;10:87894029 - 87894029 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.274G >;p.D92N;10:87933033 - 87933033 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.271G > C;p.E91Q;10:87933030 - 87933030 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.546_549delAAAG;p.L182fs * 16;10:87952171 - 87952174 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.271G > C;p.E91Q;10:87933030 - 87933030 |
胃 | 癌;signet_ring_adenocarcinoma | 替换-错义 |
c.209 + 1 g >;p。?。10:87925558 - 87925558 |
肺 | 癌;squamous_cell_carcinoma | 未知的 |
c.405A > G;p.I135M;10:87933164 - 87933164 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.84T > G;p.I28M;10:87894029 - 87894029 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.714_715insTGTACTT;p.M239fs * 6;10:87957932 - 87957933 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.1013_1023del11;p.S338fs * 1;10:87961105 - 87961115 |
乳房 | 癌 | 删除——转移 |
c.71_72insC;p.D24fs * 19;10:87864540 - 87864541 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.902_906delATAGC;p.S302fs * 8;10:87960994 - 87960998 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.274G >;p.D92N;10:87933033 - 87933033 |
乳房 | 癌 | 替换-错义 |
c.771C >;p.F257L;10:87957989 - 87957989 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.71_72insC;p.D24fs * 19;10:87864540 - 87864541 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.405A > G;p.I135M;10:87933164 - 87933164 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.295G >;p.E99K;10:87933054 - 87933054 |
胃 | 癌;腺癌 | 替换-错义 |
c.1192A > T;p.T398S;10:87965452 - 87965452 |
central_nervous_system;occipital_lobe | 神经胶质瘤 | 替换-错义 |
c.720C > G;p.Y240 *;10:87957938 - 87957938 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.962_962C >在;p.T321fs * 4;10:87961054 - 87961054 |
子宫内膜 | 癌;endometrioid_carcinoma | 复杂——转移 |
c.713T > C;p.F238S;10:87957931 - 87957931 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.954_957delTACT;p.L318fs * 2;10:87961046 - 87961049 |
肝 | 癌;hepatocellular_carcinoma | 删除——转移 |
c.209 + 53 g >;p。?。10:87925610 - 87925610 |
皮肤 | malignant_melanoma | 未知的 |
c.954_957delTACT;p.L318fs * 2;10:87961046 - 87961049 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.1121delC;p.P374fs * 30;10:87965381 - 87965381 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.1121delC;p.P374fs * 30;10:87965381 - 87965381 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.954_957delTACT;p.L318fs * 2;10:87961046 - 87961049 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.954_957delTACT;p.L318fs * 2;10:87961046 - 87961049 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.954_957delTACT;p.L318fs * 2;10:87961046 - 87961049 |
肝 | 癌;hepatocellular_carcinoma | 删除——转移 |
c.157_159delGTA;p.V54delV;10:87894102 - 87894104 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 删除——在坐标系 |
c.859_868del10;p.S287fs * 1;10:87960951 - 87960960 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.373A > G;p.K125E;10:87933132 - 87933132 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.886_887insA;p.C296fs * 1;10:87960978 - 87960979 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.954_957delTACT;p.L318fs * 2;10:87961046 - 87961049 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.954_957delTACT;p.L318fs * 2;10:87961046 - 87961049 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.954_957delTACT;p.L318fs * 2;10:87961046 - 87961049 |
子宫内膜 | 癌;mixed_cell_carcinoma | 删除——转移 |
c.155delA;p.D52fs * 2;10:87894100 - 87894100 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.373A > G;p.K125E;10:87933132 - 87933132 |
子宫内膜 | 癌;clear_cell_carcinoma | 替换-错义 |
c.954_957delTACT;p.L318fs * 2;10:87961046 - 87961049 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.954_957delTACT;p.L318fs * 2;10:87961046 - 87961049 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.954_957delTACT;p.L318fs * 2;10:87961046 - 87961049 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.280A > T;p.N94Y;10:87933039 - 87933039 |
子宫内膜 | 癌 | 替换-错义 |
c.302T >;p.I101N;10:87933061 - 87933061 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.176C > T;p.S59L;10:87925524 - 87925524 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.227_228delAT;p.Y76fs * 1;10:87931063 - 87931064 |
central_nervous_system;大脑 | 神经胶质瘤;gliosarcoma | 删除——转移 |
c.227_228delAT;p.Y76fs * 1;10:87931063 - 87931064 |
子宫内膜 | 癌;serous_carcinoma | 删除——转移 |
c.107G >;p.G36E;10:87894052 - 87894052 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.227_228delAT;p.Y76fs * 1;10:87931063 - 87931064 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.368A > G;p.H123R;10:87933127 - 87933127 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.368A > G;p.H123R;10:87933127 - 87933127 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.107G >;p.G36E;10:87894052 - 87894052 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.107G >;p.G36E;10:87894052 - 87894052 |
子宫内膜 | 癌 | 替换-错义 |
c.503_504insG;p.I168fs * 12;10:87952128 - 87952129 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.699_700insT;p.R234fs * 9;10:87957917 - 87957918 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.896A > G;p.E299G;10:87960988 - 87960988 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.753T > C;p.G251G;10:87957971 - 87957971 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.176C > T;p.S59L;10:87925524 - 87925524 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.227_228delAT;p.Y76fs * 1;10:87931063 - 87931064 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.227_228delAT;p.Y76fs * 1;10:87931063 - 87931064 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.227_228delAT;p.Y76fs * 1;10:87931063 - 87931064 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.107G >;p.G36E;10:87894052 - 87894052 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.896A > G;p.E299G;10:87960988 - 87960988 |
large_intestine;直肠 | NS | 替换-错义 |
c.1026G > C;p.K342N;10:87961118 - 87961118 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm;diffuse_large_B_cell_lymphoma | 替换-错义 |
c.454C > G;p.L152V;10:87933213 - 87933213 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.364_368delATTCA;p.I122fs * 2;10:87933123 - 87933127 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.380G >;p.G127E;10:87933139 - 87933139 |
皮肤 | malignant_melanoma | 替换-错义 |
c.380G >;p.G127E;10:87933139 - 87933139 |
皮肤 | malignant_melanoma | 替换-错义 |
c.924T >;p.R308R;10:87961016 - 87961016 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.260A > G;p.Q87R;10:87933019 - 87933019 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.364_368delATTCA;p.I122fs * 2;10:87933123 - 87933127 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.1022T > G;p.F341C;10:87961114 - 87961114 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.380G >;p.G127E;10:87933139 - 87933139 |
皮肤 | malignant_melanoma | 替换-错义 |
c.1190A > G;p.H397R;10:87965450 - 87965450 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.380G >;p.G127E;10:87933139 - 87933139 |
皮肤 | malignant_melanoma | 替换-错义 |
c.83T > G;p.I28S;10:87894028 - 87894028 |
胃 | 癌;腺癌 | 替换-错义 |
c.919G > T;p.E307 *;10:87961011 - 87961011 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.30C > T;p.S10S;10:87864499 - 87864499 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.1190A > G;p.H397R;10:87965450 - 87965450 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1041C >;p.F347L;10:87965301 - 87965301 |
乳房 | 癌 | 替换-错义 |
c.380G >;p.G127E;10:87933139 - 87933139 |
皮肤;upper_arm | malignant_melanoma | 替换-错义 |
c.1022T > G;p.F341C;10:87961114 - 87961114 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.364_368delATTCA;p.I122fs * 2;10:87933123 - 87933127 |
central_nervous_system;大脑 | 神经胶质瘤 | 删除——转移 |
c.17A > G;p.K6R;10:87864486 - 87864486 |
阴户 | in_situ_neoplasm;vulvar_intraepithelial_neoplasia_Grade_III | 替换-错义 |
c.514_532del19;p.R172fs * 5;10:87952139 - 87952157 |
肾脏 | 癌 | 删除——转移 |
c.592_594delATG;p.M198del;10:87952217 - 87952219 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 删除——在坐标系 |
c.802-2A > T;p。?。10:87960892 - 87960892 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.1202C > T;p.T401I;10:87965462 - 87965462 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.739_740insT;p.L247fs * 6;10:87957957 - 87957958 |
乳房 | 癌;ER-PR-positive_carcinoma | 插入——转移 |
c.443C >;p.A148E;10:87933202 - 87933202 |
甲状腺 | 癌;anaplastic_carcinoma | 替换-错义 |
c.493-12delT;p。?。10:87952106 - 87952106 |
前列腺癌 | 癌;腺癌 | 未知的 |
c.730delC;p.P244fs * 12;10:87957948 - 87957948 |
前列腺癌 | 癌;腺癌 | 删除——转移 |
c.1202C > T;p.T401I;10:87965462 - 87965462 |
soft_tissue;smooth_muscle | 平滑肌肉瘤 | 替换-错义 |
c.519_520delCT;p.Y174fs * 5;10:87952144 - 87952145 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.493-12delT;p。?。10:87952106 - 87952106 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_I | 未知的 |
c.500C > G;p.T167S;10:87952125 - 87952125 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.592_594delATG;p.M198del;10:87952217 - 87952219 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.17A > G;p.K6R;10:87864486 - 87864486 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.592_594delATG;p.M198del;10:87952217 - 87952219 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.739_755del17;p.L247fs * 45;10:87957957 - 87957973 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 删除——转移 |
c.509G > T;p.S170I;10:87952134 - 87952134 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.705A > G;p.E235E;10:87957923 - 87957923 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.212G >;p.C71Y;10:87931048 - 87931048 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.705A > G;p.E235E;10:87957923 - 87957923 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.509G > T;p.S170I;10:87952134 - 87952134 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.522T > G;p.Y174 *;10:87952147 - 87952147 |
骨;extraskeletal | 软骨肉瘤;黏液状的 | 替换-胡说 |
c.212G >;p.C71Y;10:87931048 - 87931048 |
子宫内膜 | 癌 | 替换-错义 |
c.712T > C;p.F238L;10:87957930 - 87957930 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.635_650del16;p.N212fs * 4;10:87957853 - 87957868 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 删除——转移 |
c.81T > C;p.Y27Y;10:87894026 - 87894026 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.582_583insT;p.H196fs * 6;10:87952207 - 87952208 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.724G >;p.E242K;10:87957942 - 87957942 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.756_757insT;p.D252fs * 45;10:87957974 - 87957975 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.509G > T;p.S170I;10:87952134 - 87952134 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.212G >;p.C71Y;10:87931048 - 87931048 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.712T > C;p.F238L;10:87957930 - 87957930 |
central_nervous_system;occipital_lobe | 神经胶质瘤 | 替换-错义 |
c.212G >;p.C71Y;10:87931048 - 87931048 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1055A > G;p.E352G;10:87965315 - 87965315 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.358G >;p.A120T;10:87933117 - 87933117 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.1055A > G;p.E352G;10:87965315 - 87965315 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.814C > T;p.H272Y;10:87960906 - 87960906 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.811T >;p.F271I;10:87960903 - 87960903 |
皮肤 | malignant_melanoma | 替换-错义 |
c.738_739ins12;p.P246_L247insSRSL;10:87957956 - 87957957 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——在坐标系 |
c.1055A > G;p.E352G;10:87965315 - 87965315 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1055A > G;p.E352G;10:87965315 - 87965315 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.112C > T;p.P38S;10:87894057 - 87894057 |
皮肤 | malignant_melanoma | 替换-错义 |
c.1055A > G;p.E352G;10:87965315 - 87965315 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.410C > T;p.A137V;10:87933169 - 87933169 |
upper_aerodigestive_tract;口 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.1055A > G;p.E352G;10:87965315 - 87965315 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.112C > T;p.P38S;10:87894057 - 87894057 |
皮肤 | malignant_melanoma | 替换-错义 |
c.1055A > G;p.E352G;10:87965315 - 87965315 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.112C > T;p.P38S;10:87894057 - 87894057 |
皮肤;树干 | malignant_melanoma;superficial_spreading | 替换-错义 |
c.1055A > G;p.E352G;10:87965315 - 87965315 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.716_717insC;p.M239fs * 4;10:87957934 - 87957935 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.414T > C;p.Y138Y;10:87933173 - 87933173 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.112C > T;p.P38S;10:87894057 - 87894057 |
皮肤 | malignant_melanoma | 替换-错义 |
c.524T > C;p.V175A;10:87952149 - 87952149 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1055A > G;p.E352G;10:87965315 - 87965315 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.358G >;p.A120T;10:87933117 - 87933117 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.320_338del19;p.D107fs * 21;10:87933079 - 87933097 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.112C > T;p.P38S;10:87894057 - 87894057 |
皮肤 | malignant_melanoma | 替换-错义 |
c.112C > T;p.P38S;10:87894057 - 87894057 |
皮肤 | malignant_melanoma | 替换-错义 |
c.700_703delCGGG;p.R234fs * 21;10:87957918 - 87957921 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 删除——转移 |
c.1055A > G;p.E352G;10:87965315 - 87965315 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.112C > T;p.P38S;10:87894057 - 87894057 |
NS | malignant_melanoma | 替换-错义 |
c.112C > T;p.P38S;10:87894057 - 87894057 |
皮肤;头皮 | malignant_melanoma | 替换-错义 |
c.814C > T;p.H272Y;10:87960906 - 87960906 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1055A > G;p.E352G;10:87965315 - 87965315 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.112C > T;p.P38S;10:87894057 - 87894057 |
皮肤 | malignant_melanoma | 替换-错义 |
c.661A > T;p.K221 *;10:87957879 - 87957879 |
子宫内膜 | 癌;clear_cell_carcinoma | 替换-胡说 |
c.661A > T;p.K221 *;10:87957879 - 87957879 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.112C > T;p.P38S;10:87894057 - 87894057 |
皮肤 | malignant_melanoma | 替换-错义 |
c.725A > G;p.E242G;10:87957943 - 87957943 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.697_698insA;p.R233fs * 10;10:87957915 - 87957916 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.213T >;p.C71 *;10:87931049 - 87931049 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-胡说 |
c.675_676insTA;p.Y225fs * 31;10:87957893 - 87957894 |
皮肤 | malignant_melanoma | 插入——转移 |
c.686C > G;p.S229 *;10:87957904 - 87957904 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.480C >;p.T160T;10:87933239 - 87933239 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.686C > G;p.S229 *;10:87957904 - 87957904 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.348_349insG;p.D116fs * 9;10:87933107 - 87933108 |
子宫内膜 | 癌;腺癌 | 插入——转移 |
c.907_907delA;p.I303fs * 4;10:87960999 - 87960999 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.586C > T;p.H196Y;10:87952211 - 87952211 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.686C > G;p.S229 *;10:87957904 - 87957904 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.686C > G;p.S229 *;10:87957904 - 87957904 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.686C > G;p.S229 *;10:87957904 - 87957904 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.675_676insTA;p.Y225fs * 31;10:87957893 - 87957894 |
皮肤 | malignant_melanoma | 插入——转移 |
c.697_698insA;p.R233fs * 10;10:87957915 - 87957916 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.417A > T;p.L139F;10:87933176 - 87933176 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.469_470insG;p.E157fs * 23;10:87933228 - 87933229 |
卵巢 | 癌 | 插入——转移 |
c.778_779delAA;p.K260fs * 37;10:87957996 - 87957997 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.469_470insG;p.E157fs * 23;10:87933228 - 87933229 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.469_470insG;p.E157fs * 23;10:87933228 - 87933229 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.469_470insG;p.E157fs * 23;10:87933228 - 87933229 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.750T >;p.C250 *;10:87957968 - 87957968 |
子宫内膜 | 癌 | 替换-胡说 |
c.686C > G;p.S229 *;10:87957904 - 87957904 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.544T > G;p.L182V;10:87952169 - 87952169 |
皮肤 | malignant_melanoma | 替换-错义 |
c.113C > T;p.P38L;10:87894058 - 87894058 |
皮肤 | malignant_melanoma | 替换-错义 |
c.420A > T;p.L140F;10:87933179 - 87933179 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.223C >;p.H75N;10:87931059 - 87931059 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.923delG;p.R308fs * 9;10:87961015 - 87961015 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.724_725GA > CCCT;p.E242fs * 15;10:87957942 - 87957943 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 复杂——转移 |
c.923delG;p.R308fs * 9;10:87961015 - 87961015 |
子宫内膜 | 癌;mixed_serous_and_endometrioid_carcinoma | 删除——转移 |
c.568_572delCCAGT;p.P190fs * 10;10:87952193 - 87952197 |
子宫内膜 | 增生;复杂的 | 删除——转移 |
c.923delG;p.R308fs * 9;10:87961015 - 87961015 |
卵巢 | 癌;endometrioid_carcinoma | 删除——转移 |
c.584_585insTC;p.H196fs * 4;10:87952209 - 87952210 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.923delG;p.R308fs * 9;10:87961015 - 87961015 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.923_924delGT;p.R308fs * 3;10:87961015 - 87961016 |
子宫内膜 | 增生;非典型的 | 删除——转移 |
c.611C >;p.P204Q;10:87952236 - 87952236 |
肾脏 | 其他;肿瘤 | 替换-错义 |
c.829A > T;p.T277S;10:87960921 - 87960921 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.530_531delAT;p.Y177fs * 2;10:87952155 - 87952156 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 删除——转移 |
c.942delA;p.E314fs * 3;10:87961034 - 87961034 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.449A > C;p.E150A;10:87933208 - 87933208 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.942delA;p.E314fs * 3;10:87961034 - 87961034 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.531T > G;p.Y177 *;10:87952156 - 87952156 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.209 + 2 deltaagtatgttttcttatttgtatgcttg;p。?。10:87925559 - 87925586 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.209 + 2 t > C;p。?。10:87925559 - 87925559 |
large_intestine | 癌;腺癌 | 未知的 |
c.496G >;p.V166I;10:87952121 - 87952121 |
甲状腺 | 癌;follicular_carcinoma | 替换-错义 |
c.927A > C;p.A309A;10:87961019 - 87961019 |
肝 | 癌;hepatocellular_carcinoma | 替换-编码沉默 |
c.348C > T;p.D116D;10:87933107 - 87933107 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.210-1G > T;p。?。10:87931045 - 87931045 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.711_712insAA;p.K237fs * 19;10:87957929 - 87957930 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.213T > G;p.C71W;10:87931049 - 87931049 |
皮肤 | malignant_melanoma | 替换-错义 |
c.927A > C;p.A309A;10:87961019 - 87961019 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.711_712insAA;p.K237fs * 19;10:87957929 - 87957930 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.18A > T;p.K6N;10:87864487 - 87864487 |
食道;lower_third | 癌;腺癌 | 替换-错义 |
c.187A > T;p.N63Y;10:87925535 - 87925535 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.226_227delTA;p.Y76fs * 1;10:87931062 - 87931063 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.383_391del9;p.K128_R130del;10:87933142 - 87933150 |
卵巢 | 癌 | 删除——在坐标系 |
c.654C >;p.C218 *;10:87957872 - 87957872 |
子宫内膜 | 癌 | 替换-胡说 |
c.321T > C;p.D107D;10:87933080 - 87933080 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.68_71delTAGA;p.L23fs * 2;10:87864537 - 87864540 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.226_227delTA;p.Y76fs * 1;10:87931062 - 87931063 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.373_399del27;p.K125_V133delKAGKGRTGV;10:87933132 - 87933158 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.57T >;p.D19E;10:87864526 - 87864526 |
肾脏 | 其他;肿瘤 | 替换-错义 |
c.1012delT;p.S338fs * 6;10:87961104 - 87961104 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.694A > G;p.T232A;10:87957912 - 87957912 |
肾脏 | 癌;papillary_renal_cell_carcinoma | 替换-错义 |
c.654C >;p.C218 *;10:87957872 - 87957872 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.634 + 5 g >;p。?。10:87952264 - 87952264 |
large_intestine | 癌;腺癌 | 未知的 |
c.164 + 79 g > A;p。?。10:87894188 - 87894188 |
皮肤 | malignant_melanoma | 未知的 |
c.228T > C;p.Y76Y;10:87931064 - 87931064 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.321T > C;p.D107D;10:87933080 - 87933080 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.226_227delTA;p.Y76fs * 1;10:87931062 - 87931063 |
前列腺癌 | 癌;腺癌 | 删除——转移 |
c.927A > G;p.A309A;10:87961019 - 87961019 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.97delA;p.I33fs * 21;10:87894042 - 87894042 |
子宫内膜 | 癌;serous_carcinoma | 删除——转移 |
c.493_1212del720;p.G165_ * 404 del;10:87952118 - 87965472 |
乳房 | 癌;ER-PR-positive_carcinoma | 删除——在坐标系 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
乳房 | 癌;HER-positive_carcinoma | 替换-错义 |
c.297A > G;p.E99E;10:87933056 - 87933056 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.7G > T;p.A3S;10:87864476 - 87864476 |
子宫内膜 | 其他;solitary_cyst | 替换-错义 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.105G >;p.M35I;10:87894050 - 87894050 |
central_nervous_system;temporal_lobe | 神经胶质瘤;室管膜瘤 | 替换-错义 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 增生 | 替换-错义 |
c.1008C > G;p.Y336 *;10:87961100 - 87961100 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.1008C > G;p.Y336 *;10:87961100 - 87961100 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 癌 | 替换-错义 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
乳房 | 癌 | 替换-错义 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.97delA;p.I33fs * 21;10:87894042 - 87894042 |
子宫内膜 | 癌;serous_carcinoma | 删除——转移 |
c.571G >;p.V191M;10:87952196 - 87952196 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
皮肤 | malignant_melanoma | 替换-错义 |
c.23T > C;p.I8T;10:87864492 - 87864492 |
皮肤 | malignant_melanoma | 替换-错义 |
c.1144A > G;p.T382A;10:87965404 - 87965404 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 增生;非典型的 | 替换-错义 |
c.373delA;p.A126fs * 8;10:87933132 - 87933132 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1008C > G;p.Y336 *;10:87961100 - 87961100 |
前列腺癌 | 癌 | 替换-胡说 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.927A > G;p.A309A;10:87961019 - 87961019 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G > T;p.R130L;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1123G >;p.D375N;10:87965383 - 87965383 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.80A > C;p.Y27S;10:87894025 - 87894025 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.922_923insA;p.R308fs * 4;10:87961014 - 87961015 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.696_705del10;p.R233fs * 20;10:87957914 - 87957923 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 删除——转移 |
c.348_358del11;p.N117fs * 5;10:87933107 - 87933117 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.204_205insA;p.N69fs * 5;10:87925552 - 87925553 |
肝 | 癌 | 插入——转移 |
c.45_46delAT;p.Y16fs * 27个;10:87864514 - 87864515 |
乳房 | 癌;basal_ _carcinoma(三阴性) | 删除——转移 |
c.1123G >;p.D375N;10:87965383 - 87965383 |
肺 | 癌;腺癌 | 替换-错义 |
c.862_863delGA;p.E288fs * 9;10:87960954 - 87960955 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.696_697insG;p.R233fs * 10;10:87957914 - 87957915 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.340G > T;p.E114 *;10:87933099 - 87933099 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.1123G >;p.D375N;10:87965383 - 87965383 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.340G > T;p.E114 *;10:87933099 - 87933099 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.256G > C;p.A86P;10:87933015 - 87933015 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.1011T >;p.F337L;10:87961103 - 87961103 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.696_697insG;p.R233fs * 10;10:87957914 - 87957915 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.1002_1003CC TT >;p.R335 *;10:87961094 - 87961095 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.534T >;p.Y178 *;10:87952159 - 87952159 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1002_1003CC TT >;p.R335 *;10:87961094 - 87961095 |
皮肤;脚 | malignant_melanoma;结节性 | 替换-胡说 |
c.493_495delGGA;p.G165del;10:87952118 - 87952120 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.698_699GA >有条件现金转移支付;p.R233fs * 10;10:87957916 - 87957917 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 复杂——转移 |
c.523G > T;p.V175L;10:87952148 - 87952148 |
卵巢 | 癌;serous_carcinoma | 替换-错义 |
c.679T > C;p.S227P;10:87957897 - 87957897 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.583_583delT;p.H196fs * 3;10:87952208 - 87952208 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.703G >;p.E235K;10:87957921 - 87957921 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.99T > C;p.I33I;10:87894044 - 87894044 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.283C > T;p.P95S;10:87933042 - 87933042 |
的眼睛;uveal_tract | malignant_melanoma | 替换-错义 |
c.679T > C;p.S227P;10:87957897 - 87957897 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.425G > T;p.R142L;10:87933184 - 87933184 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1191T >;p.H397Q;10:87965451 - 87965451 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.437_438insT;p.L146fs * 34;10:87933196 - 87933197 |
子宫内膜 | 癌;腺癌 | 插入——转移 |
c.437_438insT;p.L146fs * 34;10:87933196 - 87933197 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.892_892delC;p.Q298fs * 9;10:87960984 - 87960984 |
子宫内膜 | 癌;carcinosarcoma-malignant_mesodermal_mixed_tumour | 删除——转移 |
c.209 + 1 _209 + 4 delgtaa;p。?。10:87925558 - 87925561 |
胃 | 癌;diffuse_adenocarcinoma | 未知的 |
c.766G > C;p.E256Q;10:87957984 - 87957984 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.437_438insT;p.L146fs * 34;10:87933196 - 87933197 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.534T >;p.Y178 *;10:87952159 - 87952159 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.283C > T;p.P95S;10:87933042 - 87933042 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.283C > T;p.P95S;10:87933042 - 87933042 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.337A > G;p.S113G;10:87933096 - 87933096 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
皮肤;upper_leg | malignant_melanoma | 删除——转移 |
c.606_607delTA;p.I203fs * 39;10:87952231 - 87952232 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.508A > G;p.S170G;10:87952133 - 87952133 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.320A > C;p.D107A;10:87933079 - 87933079 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.743_744ins13;p.V249fs * 8;10:87957961 - 87957962 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.881_885delGTCTA;p.S294fs * 2;10:87960973 - 87960977 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.1146C >;p.T382T;10:87965406 - 87965406 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.601G > T;p.E201 *;10:87952226 - 87952226 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.164 + 1 delg;p。?。10:87894110 - 87894110 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.960_961insA;p.T321fs * 4;10:87961052 - 87961053 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.279_304del26;p.H93fs * 5;10:87933038 - 87933063 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.337A > G;p.S113G;10:87933096 - 87933096 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
central_nervous_system;大脑 | 神经胶质瘤;oligodendroglioma_Grade_III | 删除——转移 |
c.743_744ins13;p.V249fs * 8;10:87957961 - 87957962 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.689_705del17;p.P231fs * 6;10:87957907 - 87957923 |
large_intestine;盲肠 | 癌;腺癌 | 删除——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.650T > C;p.V217A;10:87957868 - 87957868 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.743_744ins13;p.V249fs * 8;10:87957961 - 87957962 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.601G > T;p.E201 *;10:87952226 - 87952226 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
卵巢 | 癌 | 删除——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.601G > T;p.E201 *;10:87952226 - 87952226 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.881_885delGTCTA;p.S294fs * 2;10:87960973 - 87960977 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
前列腺癌 | 癌 | 删除——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.1026 + 16 c >;p。?。10:87961134 - 87961134 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
central_nervous_system;大脑 | 神经胶质瘤;gliosarcoma | 删除——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.954delT;p.L318fs * 3;10:87961046 - 87961046 |
子宫内膜 | 癌 | 删除——转移 |
c.634 > C + 3;p。?。10:87952262 - 87952262 |
子宫内膜 | 癌;腺癌 | 未知的 |
c.80-2A > C;p。?。10:87894023 - 87894023 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.955_958delACTT;p.T319fs * 1;10:87961047 - 87961050 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.499A > G;p.T167A;10:87952124 - 87952124 |
皮肤 | malignant_melanoma | 替换-错义 |
c.166T > G;p.F56V;10:87925514 - 87925514 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.499A > G;p.T167A;10:87952124 - 87952124 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.499A > G;p.T167A;10:87952124 - 87952124 |
皮肤 | malignant_melanoma | 替换-错义 |
c.499A > G;p.T167A;10:87952124 - 87952124 |
皮肤 | malignant_melanoma | 替换-错义 |
c.480C > G;p.T160T;10:87933239 - 87933239 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-编码沉默 |
c.499A > G;p.T167A;10:87952124 - 87952124 |
皮肤;指甲下的 | malignant_melanoma;acral_lentiginous | 替换-错义 |
c.922_928delCGTGCAG;p.R308fs * 7;10:87961014 - 87961020 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.79T > C;p.Y27H;10:87864548 - 87864548 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.166T > G;p.F56V;10:87925514 - 87925514 |
卵巢 | 癌 | 替换-错义 |
c.499A > G;p.T167A;10:87952124 - 87952124 |
皮肤 | malignant_melanoma | 替换-错义 |
c.499A > G;p.T167A;10:87952124 - 87952124 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;hairy_cell_leukaemia | 替换-错义 |
c.932_933insA;p.N311fs * 2;10:87961024 - 87961025 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.370T > C;p.C124R;10:87933129 - 87933129 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.362C >;p.A121E;10:87933121 - 87933121 |
upper_aerodigestive_tract;咽 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.224_224delA;p.H75fs * 24;10:87931060 - 87931060 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 删除——转移 |
c.375A > T;p.K125N;10:87933134 - 87933134 |
肺 | 癌;腺癌 | 替换-错义 |
c.504T > C;p.I168I;10:87952129 - 87952129 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.370T > C;p.C124R;10:87933129 - 87933129 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.165-2A > C;p。?。10:87925511 - 87925511 |
central_nervous_system;大脑 | 神经胶质瘤;gliomatosis_cerebri | 未知的 |
c.165-2A > C;p。?。10:87925511 - 87925511 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.945T >;p.Y315 *;10:87961037 - 87961037 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.38_39insC;p.K13fs * 31;10:87864507 - 87864508 |
子宫内膜 | 癌;clear_cell_carcinoma | 插入——转移 |
c.727_739del13;p.F243fs * 9;10:87957945 - 87957957 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.938delA;p.K313fs * 4;10:87961030 - 87961030 |
子宫内膜 | 癌;mixed_adenosquamous_carcinoma | 删除——转移 |
c.370T > C;p.C124R;10:87933129 - 87933129 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.873A > G;p.E291E;10:87960965 - 87960965 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.313T > G;p.C105G;10:87933072 - 87933072 |
皮肤 | malignant_melanoma | 替换-错义 |
c.313T > G;p.C105G;10:87933072 - 87933072 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.370T > C;p.C124R;10:87933129 - 87933129 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1012T >;p.S338T;10:87961104 - 87961104 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.362C >;p.A121E;10:87933121 - 87933121 |
upper_aerodigestive_tract;喉 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.271G > T;p.E91 *;10:87933030 - 87933030 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
large_intestine;盲肠 | 癌;腺癌 | 替换-胡说 |
c.44G >;p.R15K;10:87864513 - 87864513 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.484G > C;p.D162H;10:87933243 - 87933243 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.253G > T;p.V85F;10:87931089 - 87931089 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.959T > C;p.L320S;10:87961051 - 87961051 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.635delA;p.N212fs * 9;10:87957853 - 87957853 |
子宫内膜 | 癌 | 删除——转移 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm;Burkitt_lymphoma | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-胡说 |
c.271G > T;p.E91 *;10:87933030 - 87933030 |
子宫内膜 | 癌;腺癌 | 替换-胡说 |
c.271G > T;p.E91 *;10:87933030 - 87933030 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-胡说 |
c.821G >;p.W274 *;10:87960913 - 87960913 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.484G > C;p.D162H;10:87933243 - 87933243 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm;B_cell_lymphoma_unspecified | 替换-错义 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
upper_aerodigestive_tract;口 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.962_965delCAAA;p.T321fs * 22;10:87961054 - 87961057 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
large_intestine;盲肠 | 癌;腺癌 | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-胡说 |
c.44G >;p.R15K;10:87864513 - 87864513 |
皮肤 | malignant_melanoma | 替换-错义 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.821G >;p.W274 *;10:87960913 - 87960913 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
胃 | 癌;腺癌 | 替换-胡说 |
c.44G >;p.R15K;10:87864513 - 87864513 |
soft_tissue;smooth_muscle | 平滑肌肉瘤 | 替换-错义 |
c.198G >;p.K66K;10:87925546 - 87925546 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.821G >;p.W274 *;10:87960913 - 87960913 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.821G >;p.W274 *;10:87960913 - 87960913 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.821G >;p.W274 *;10:87960913 - 87960913 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-胡说 |
c.411delA;p.Y138fs * 9;10:87933170 - 87933170 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.821G >;p.W274 *;10:87960913 - 87960913 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1003C > T;p.R335 *;10:87961095 - 87961095 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.263A > G;p.Y88C;10:87933022 - 87933022 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.263A > G;p.Y88C;10:87933022 - 87933022 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.491A > G;p.K164R;10:87933250 - 87933250 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.263A > G;p.Y88C;10:87933022 - 87933022 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.263A > G;p.Y88C;10:87933022 - 87933022 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.202T > C;p.Y68H;10:87925550 - 87925550 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.802_803insTAGG;p.D268fs * 31;10:87960894 - 87960895 |
甲状腺 | 癌;anaplastic_carcinoma | 插入——转移 |
c.387A > G;p.G129G;10:87933146 - 87933146 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.387A > G;p.G129G;10:87933146 - 87933146 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.387A > G;p.G129G;10:87933146 - 87933146 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.743_744insC;p.V249fs * 4;10:87957961 - 87957962 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.196A > G;p.K66E;10:87925544 - 87925544 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.373A > T;p.K125 *;10:87933132 - 87933132 |
large_intestine | 癌;腺癌 | 替换-胡说 |
c.202T > C;p.Y68H;10:87925550 - 87925550 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.263A > G;p.Y88C;10:87933022 - 87933022 |
乳房 | 癌;ductal_carcinoma | 替换-错义 |
c.110T > C;p.F37S;10:87894055 - 87894055 |
阴户 | in_situ_neoplasm;vulvar_intraepithelial_neoplasia_Grade_I | 替换-错义 |
c.202T > C;p.Y68H;10:87925550 - 87925550 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm;B_cell_lymphoma_unspecified | 替换-错义 |
c.196A > G;p.K66E;10:87925544 - 87925544 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.774C >;p.F258L;10:87957992 - 87957992 |
乳房 | 癌 | 替换-错义 |
c.110T > C;p.F37S;10:87894055 - 87894055 |
阴户 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.263A > G;p.Y88C;10:87933022 - 87933022 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.263A > G;p.Y88C;10:87933022 - 87933022 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.264T >;p.Y88 *;10:87933023 - 87933023 |
乳房 | 癌 | 替换-胡说 |
c.689_690insG;p.P231fs * 12;10:87957907 - 87957908 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.1004G >;p.R335Q;10:87961096 - 87961096 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.202T > C;p.Y68H;10:87925550 - 87925550 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.244_285del42;p.N82_P95del;10:87931080 - 87933044 |
肺 | 癌;small_cell_carcinoma | 删除——在坐标系 |
c.202T > C;p.Y68H;10:87925550 - 87925550 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.202T > C;p.Y68H;10:87925550 - 87925550 |
胰腺 | carcinoid-endocrine_tumour | 替换-错义 |
c.157G >;p.V53I;10:87894102 - 87894102 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.491A > G;p.K164R;10:87933250 - 87933250 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.263A > G;p.Y88C;10:87933022 - 87933022 |
upper_aerodigestive_tract;喉 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.202T > C;p.Y68H;10:87925550 - 87925550 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.202T > C;p.Y68H;10:87925550 - 87925550 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.202T > C;p.Y68H;10:87925550 - 87925550 |
子宫内膜 | 增生;非典型的 | 替换-错义 |
c.202T > C;p.Y68H;10:87925550 - 87925550 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.263A > G;p.Y88C;10:87933022 - 87933022 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.387A > G;p.G129G;10:87933146 - 87933146 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.200T > C;p.I67T;10:87925548 - 87925548 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.493G >;p.G165R;10:87952118 - 87952118 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.493G >;p.G165R;10:87952118 - 87952118 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.493G >;p.G165R;10:87952118 - 87952118 |
central_nervous_system;丘脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.386G > T;p.G129V;10:87933145 - 87933145 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.447A > G;p.Q149Q;10:87933206 - 87933206 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.493G >;p.G165R;10:87952118 - 87952118 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.493G >;p.G165R;10:87952118 - 87952118 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.468G >;p.G156G;10:87933227 - 87933227 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.386G > T;p.G129V;10:87933145 - 87933145 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.493G >;p.G165R;10:87952118 - 87952118 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.493G >;p.G165R;10:87952118 - 87952118 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.897A > T;p.E299D;10:87960989 - 87960989 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.758_760TCA > CC;p.I253fs * 3;10:87957976 - 87957978 |
子宫内膜 | 癌;endometrioid_carcinoma | 复杂——转移 |
c.386G > T;p.G129V;10:87933145 - 87933145 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.751G >;p.G251S;10:87957969 - 87957969 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.493G >;p.G165R;10:87952118 - 87952118 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.493G >;p.G165R;10:87952118 - 87952118 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.984delA;p.N329fs * 15;10:87961076 - 87961076 |
biliary_tract;bile_duct | 癌;腺癌 | 删除——转移 |
c.493G >;p.G165R;10:87952118 - 87952118 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.468G >;p.G156G;10:87933227 - 87933227 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.449_450insGGCCCTAG;p.D153fs * 3;10:87933208 - 87933209 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.493G >;p.G165R;10:87952118 - 87952118 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.493G >;p.G165R;10:87952118 - 87952118 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.168T > C;p.F56F;10:87925516 - 87925516 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.1093G >;p.V365I;10:87965353 - 87965353 |
子宫颈 | 癌;腺癌 | 替换-错义 |
c.158_160delTAG;p.V53del;10:87894103 - 87894105 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.400_402delATG;p.M134delM;10:87933159 - 87933161 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.1129_1132delTATA;p.Y377fs * 35;10:87965389 - 87965392 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.161T >;p.V54E;10:87894106 - 87894106 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.692_693insCCACACAG;p.T232fs * 27个;10:87957910 - 87957911 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.952_953insT;p.T319fs * 6;10:87961044 - 87961045 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.699A > G;p.R233R;10:87957917 - 87957917 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.131_137delGCGTATA;p.G44fs * 8;10:87894076 - 87894082 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.204C > G;p.Y68 *;10:87925552 - 87925552 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.546_547delAA;p.K183fs * 6;10:87952171 - 87952172 |
乳房 | 癌 | 删除——转移 |
c.402G > C;p.M134I;10:87933161 - 87933161 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1129_1132delTATA;p.Y377fs * 35;10:87965389 - 87965392 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.1-22C > T;p。?。10:87864448 - 87864448 |
皮肤 | malignant_melanoma;结节性 | 未知的 |
c.1-22C > T;p。?。10:87864448 - 87864448 |
皮肤 | malignant_melanoma | 未知的 |
c.1006T > C;p.Y336H;10:87961098 - 87961098 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.496_511 > CAGTT;p.V166fs * 10;10:87952121 - 87952136 |
子宫内膜 | 癌 | 复杂——转移 |
c.1027-7T > C;p。?。10:87965280 - 87965280 |
soft_tissue;smooth_muscle | 平滑肌肉瘤 | 未知的 |
c.647T > C;p.V216A;10:87957865 - 87957865 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.339T > C;p.S113S;10:87933098 - 87933098 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.1034T > C;p.L345P;10:87965294 - 87965294 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.540C > G;p.Y180 *;10:87952165 - 87952165 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.9C > T;p.A3A;10:87864478 - 87864478 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.654C > T;p.C218C;10:87957872 - 87957872 |
肺 | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.940G >;p.E314K;10:87961032 - 87961032 |
子宫内膜 | 其他;solitary_cyst | 替换-错义 |
c.209 + 30 c > T;p。?。10:87925587 - 87925587 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_I | 未知的 |
c.743C >;p.P248H;10:87957961 - 87957961 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.634 + 1 g > T;p。?。10:87952260 - 87952260 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.158T > G;p.V53G;10:87894103 - 87894103 |
肾脏 | 癌;papillary_renal_cell_carcinoma | 替换-错义 |
c.1014T >;p.S338S;10:87961106 - 87961106 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.210-22_229del42;p。?。10:87931024 - 87931065 |
乳房 | 癌 | 未知的 |
c.263_264delAT;p.Y88fs * 3;10:87933022 - 87933023 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.737_738insACCATGTT;p.L247fs * 12;10:87957955 - 87957956 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.459T > C;p.D153D;10:87933218 - 87933218 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-编码沉默 |
c.447_448insA;p.E150fs * 30;10:87933206 - 87933207 |
甲状腺 | 癌;anaplastic_carcinoma | 插入——转移 |
c.634 + 1 g > T;p。?。10:87952260 - 87952260 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.263_264delAT;p.Y88fs * 3;10:87933022 - 87933023 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.9C > T;p.A3A;10:87864478 - 87864478 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.740_741delTA;p.L247fs * 5;10:87957958 - 87957959 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;primary_effusion_lymphoma | 删除——转移 |
c.530A > C;p.Y177S;10:87952155 - 87952155 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.678_679insT;p.S227fs * 16;10:87957896 - 87957897 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.792_804del13;p.M264fs * 8;10:87958010 - 87960896 |
卵巢 | 癌;endometrioid_carcinoma | 删除——转移 |
c.226_228delTAT;p.Y76del;10:87931062 - 87931064 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 删除——在坐标系 |
c.202_203delTA;p.Y68fs * 5;10:87925550 - 87925551 |
卵巢 | 癌;endometrioid_carcinoma | 删除——转移 |
c.319G >;p.D107N;10:87933078 - 87933078 |
肺;right_lower_lobe | 癌;腺癌 | 替换-错义 |
c.72C > G;p.D24E;10:87864541 - 87864541 |
胃 | 癌;腺癌 | 替换-错义 |
c.792_804del13;p.M264fs * 8;10:87958010 - 87960896 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
本月c.492 + 5;p。?。10:87933256 - 87933257 |
肝 | 癌;hepatocellular_carcinoma | 未知的 |
c.1117G >;p.E373K;10:87965377 - 87965377 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.209T > C;p.L70P;10:87925557 - 87925557 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.202_203delTA;p.Y68fs * 5;10:87925550 - 87925551 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.459T >;p.D153E;10:87933218 - 87933218 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.72C > G;p.D24E;10:87864541 - 87864541 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.226_228delTAT;p.Y76del;10:87931062 - 87931064 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.72C > G;p.D24E;10:87864541 - 87864541 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.160G > T;p.V54L;10:87894105 - 87894105 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.319G >;p.D107N;10:87933078 - 87933078 |
乳房 | 癌 | 替换-错义 |
c.165 - 63 a > T;p。?。10:87925450 - 87925450 |
皮肤 | malignant_melanoma | 未知的 |
c.710_718del9;p.K237_Y240 > N;10:87957928 - 87957936 |
乳房 | 癌 | 复杂——删除inframe |
c.667delA;p.K223fs * 33;10:87957885 - 87957885 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.904_919del16;p.I303fs * 9;10:87960996 - 87961011 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.377C >;p.A126D;10:87933136 - 87933136 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.315T > C;p.C105C;10:87933074 - 87933074 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.370T > G;p.C124G;10:87933129 - 87933129 |
乳房 | 癌 | 替换-错义 |
c.377C >;p.A126D;10:87933136 - 87933136 |
胃 | 癌;腺癌 | 替换-错义 |
c.377C >;p.A126D;10:87933136 - 87933136 |
乳房 | 癌 | 替换-错义 |
c.105G > T;p.M35I;10:87894050 - 87894050 |
肺;left_upper_lobe | 癌;腺癌 | 替换-错义 |
c.105G > T;p.M35I;10:87894050 - 87894050 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.645_646insT;p.V216fs * 27个;10:87957863 - 87957864 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.377C >;p.A126D;10:87933136 - 87933136 |
乳房 | 增生;atypical_ductal_hyperplasia | 替换-错义 |
c.315T > C;p.C105C;10:87933074 - 87933074 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.1113delC;p.D371fs * > 33;10:87965373 - 87965373 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.461T > C;p.F154S;10:87933220 - 87933220 |
甲状腺 | 癌;anaplastic_carcinoma | 替换-错义 |
c.249C >;p.C83 *;10:87931085 - 87931085 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1014T > C;p.S338S;10:87961106 - 87961106 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.105G > T;p.M35I;10:87894050 - 87894050 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.197_198ins14;p.K66fs * 38岁;10:87925545 - 87925546 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.962_963insA;p.N323fs * 2;10:87961054 - 87961055 |
large_intestine;结肠 | 癌;腺癌 | 插入——转移 |
c.955_956insA;p.T319fs * 6;10:87961047 - 87961048 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.738delG;p.P246fs * 10;10:87957956 - 87957956 |
子宫内膜 | 癌 | 删除——转移 |
c.1-12A > G;p。?。10:87864458 - 87864458 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;diffuse_large_B_cell_lymphoma | 未知的 |
c.47_49delATC;p.Y16_Q17 > *;10:87864516 - 87864518 |
子宫内膜 | 癌;endometrioid_carcinoma | 复杂——删除inframe |
c.244_247delAATT;p.N82fs * 16;10:87931080 - 87931083 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.955_956insA;p.T319fs * 6;10:87961047 - 87961048 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 插入——转移 |
c.708_709insA;p.F238fs * 5;10:87957926 - 87957927 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.962_963insA;p.N323fs * 2;10:87961054 - 87961055 |
large_intestine;结肠 | 癌;腺癌 | 插入——转移 |
c.867delA;p.V290fs * 1;10:87960959 - 87960959 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.867delA;p.V290fs * 1;10:87960959 - 87960959 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.154_156delGAT;p.D52del;10:87894099 - 87894101 |
子宫内膜 | 增生;非典型的 | 删除——在坐标系 |
c.955_956insA;p.T319fs * 6;10:87961047 - 87961048 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.867delA;p.V290fs * 1;10:87960959 - 87960959 |
子宫内膜 | 癌 | 删除——转移 |
c.635-27_635-7del21;p。?。10:87957826 - 87957846 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 未知的 |
c.955_956insA;p.T319fs * 6;10:87961047 - 87961048 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 插入——转移 |
c.962_963insA;p.N323fs * 2;10:87961054 - 87961055 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.738delG;p.P246fs * 10;10:87957956 - 87957956 |
胰腺 | carcinoid-endocrine_tumour;islet_cell | 删除——转移 |
c.154_156delGAT;p.D52del;10:87894099 - 87894101 |
子宫内膜 | 癌;腺癌 | 删除——在坐标系 |
c.955_956insA;p.T319fs * 6;10:87961047 - 87961048 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.833_834insT;p.F279fs * 19;10:87960925 - 87960926 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.867delA;p.V290fs * 1;10:87960959 - 87960959 |
子宫内膜 | 癌 | 删除——转移 |
c.955_956insA;p.T319fs * 6;10:87961047 - 87961048 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 插入——转移 |
c.962_963insA;p.N323fs * 2;10:87961054 - 87961055 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.223_234del12;p.H75_T78del;10:87931059 - 87931070 |
胃 | 癌;腺癌 | 删除——在坐标系 |
c.74T > C;p.L25S;10:87864543 - 87864543 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.955_956insA;p.T319fs * 6;10:87961047 - 87961048 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.606_606delT;p.I203fs * 18;10:87952231 - 87952231 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.955_956insA;p.T319fs * 6;10:87961047 - 87961048 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 插入——转移 |
c.365T > G;p.I122S;10:87933124 - 87933124 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.867delA;p.V290fs * 1;10:87960959 - 87960959 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.955_956insA;p.T319fs * 6;10:87961047 - 87961048 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 插入——转移 |
c.955_956insA;p.T319fs * 6;10:87961047 - 87961048 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.867delA;p.V290fs * 1;10:87960959 - 87960959 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.1047_1048insA;p.T350fs * 11;10:87965307 - 87965308 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.937delA;p.K313fs * 4;10:87961029 - 87961029 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.500C > T;p.T167I;10:87952125 - 87952125 |
子宫内膜 | 癌 | 替换-错义 |
c.953T > C;p.L318P;10:87961045 - 87961045 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.713_714insT;p.M239fs * 4;10:87957931 - 87957932 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.77C > T;p.T26I;10:87864546 - 87864546 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.860C > T;p.S287L;10:87960952 - 87960952 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.172G >;p.D58N;10:87925520 - 87925520 |
子宫内膜 | 癌 | 替换-错义 |
c.951_954delACTT;p.V317fs * 3;10:87961043 - 87961046 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.951_954delACTT;p.V317fs * 3;10:87961043 - 87961046 |
乳房 | 癌 | 删除——转移 |
c.1040delT;p.F347fs * 5;10:87965300 - 87965300 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.953T > C;p.L318P;10:87961045 - 87961045 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.116_117insG;p.A39fs * 5;10:87894061 - 87894062 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.382A > G;p.K128E;10:87933141 - 87933141 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.664G >;p.V222M;10:87957882 - 87957882 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.431A > T;p.K144I;10:87933190 - 87933190 |
肝 | 癌;hepatocellular_carcinoma | 替换-错义 |
c.387_388insG;p.G129fs * 50;10:87933146 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.860C > T;p.S287L;10:87960952 - 87960952 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.951_954delACTT;p.V317fs * 3;10:87961043 - 87961046 |
卵巢 | 癌;endometrioid_carcinoma | 删除——转移 |
c.953T > C;p.L318P;10:87961045 - 87961045 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.77C > T;p.T26I;10:87864546 - 87864546 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.375_400del26;p.K125fs * 46;10:87933134 - 87933159 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.951_954delACTT;p.V317fs * 3;10:87961043 - 87961046 |
乳房 | 癌;luminal_NS_carcinoma | 删除——转移 |
c.395G >;p.G132D;10:87933154 - 87933154 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.802-1G >;p。?。10:87960893 - 87960893 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.802-1G >;p。?。10:87960893 - 87960893 |
肺 | 癌;腺癌 | 未知的 |
c.208_251del44;p.L70fs * 7;10:87925556 - 87931087 |
乳房 | 癌 | 删除——转移 |
c.395G >;p.G132D;10:87933154 - 87933154 |
卵巢 | 癌;endometrioid_carcinoma | 替换-错义 |
c.994_995delAA;p.K332fs * 10;10:87961086 - 87961087 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.979delA;p.A328fs * 16;10:87961071 - 87961071 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.210_634del425;p。?。10:87931046 - 87952259 |
乳房 | 癌 | 未知的 |
c.113C > G;p.P38R;10:87894058 - 87894058 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.395G >;p.G132D;10:87933154 - 87933154 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.802-1G >;p。?。10:87960893 - 87960893 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.821G > T;p.W274L;10:87960913 - 87960913 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.466G >;p.G156R;10:87933225 - 87933225 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.802-1G >;p。?。10:87960893 - 87960893 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.151_153delGAT;p.D51del;10:87894096 - 87894098 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.979delA;p.A328fs * 16;10:87961071 - 87961071 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.395G >;p.G132D;10:87933154 - 87933154 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.186A > C;p.K62N;10:87925534 - 87925534 |
子宫内膜 | 癌;serous_carcinoma | 替换-错义 |
c.395G >;p.G132D;10:87933154 - 87933154 |
central_nervous_system;大脑 | 神经胶质瘤;gliosarcoma | 替换-错义 |
c.395G >;p.G132D;10:87933154 - 87933154 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.802-1G >;p。?。10:87960893 - 87960893 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.193T > G;p.Y65D;10:87925541 - 87925541 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.208_251del44;p.L70fs * 7;10:87925556 - 87931087 |
乳房 | 癌 | 删除——转移 |
c.421C > T;p.H141Y;10:87933180 - 87933180 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.821G > T;p.W274L;10:87960913 - 87960913 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.413_492 + 1191 >;p。?。10:87933172 - 87933262 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;Burkitt_lymphoma | 未知的 |
c.1026 + 32 g > T;p。?。10:87961150 - 87961150 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_I | 未知的 |
c.802-1G >;p。?。10:87960893 - 87960893 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.821G > T;p.W274L;10:87960913 - 87960913 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.635-4G >;p。?。10:87957849 - 87957849 |
large_intestine | 癌;腺癌 | 未知的 |
c.277C > G;p.H93D;10:87933036 - 87933036 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.395G >;p.G132D;10:87933154 - 87933154 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.821G > T;p.W274L;10:87960913 - 87960913 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.821G > T;p.W274L;10:87960913 - 87960913 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.466G >;p.G156R;10:87933225 - 87933225 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.395G > T;p.G132V;10:87933154 - 87933154 |
central_nervous_system;大脑 | primitive_neuroectodermal_tumour-medulloblastoma | 替换-错义 |
c.797_797delA;p.K267fs * 9;10:87958015 - 87958015 |
肺 | 癌;squamous_cell_carcinoma | 删除——转移 |
c.975T > C;p.L325L;10:87961067 - 87961067 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.370T >;p.C124S;10:87933129 - 87933129 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.528T > G;p.Y176 *;10:87952153 - 87952153 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-胡说 |
c.560_561insT;p.Y188fs * 2;10:87952185 - 87952186 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.975T > C;p.L325L;10:87961067 - 87961067 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.108A > G;p.G36G;10:87894053 - 87894053 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.629delC;p.T210fs * 11;10:87952254 - 87952254 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.1106delT;p.S370fs * > 34;10:87965366 - 87965366 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.263A > C;p.Y88S;10:87933022 - 87933022 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.632_633insG;p.C211fs * 32;10:87952257 - 87952258 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.370T >;p.C124S;10:87933129 - 87933129 |
乳房 | 癌 | 替换-错义 |
c.395G > T;p.G132V;10:87933154 - 87933154 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.716T > G;p.M239R;10:87957934 - 87957934 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.133_133delG;p.V45fs * 9;10:87894078 - 87894078 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.395G > T;p.G132V;10:87933154 - 87933154 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.370T >;p.C124S;10:87933129 - 87933129 |
甲状腺 | 癌;follicular_carcinoma | 替换-错义 |
c.662delA;p.K221fs * 2;10:87957880 - 87957880 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.395G > T;p.G132V;10:87933154 - 87933154 |
肝 | 癌 | 替换-错义 |
c.528T > G;p.Y176 *;10:87952153 - 87952153 |
肝 | 癌;hepatocellular_carcinoma | 替换-胡说 |
c.759C >;p.I253I;10:87957977 - 87957977 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.270_284del15;p.F90_P95 > L;10:87933029 - 87933043 |
皮肤 | malignant_melanoma | 复杂——删除inframe |
c.370T >;p.C124S;10:87933129 - 87933129 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.639_663 > GGCAA;p.Q214fs * 22;10:87957857 - 87957881 |
子宫内膜 | 癌;endometrioid_carcinoma | 复杂——转移 |
c.528T > G;p.Y176 *;10:87952153 - 87952153 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.723_724insTT;p.E242fs * 15;10:87957941 - 87957942 |
子宫内膜 | 癌;腺癌 | 插入——转移 |
c.774delC;p.H259fs * 7;10:87957992 - 87957992 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.134T > C;p.V45A;10:87894079 - 87894079 |
食管 | 癌;腺癌 | 替换-错义 |
c.862_863insA;p.V290fs * 8;10:87960954 - 87960955 |
large_intestine;结肠 | 癌;腺癌 | 插入——转移 |
c.723_724insTT;p.E242fs * 15;10:87957941 - 87957942 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.723_724insTT;p.E242fs * 15;10:87957941 - 87957942 |
central_nervous_system;大脑 | 神经胶质瘤 | 插入——转移 |
c.67T > C;p.L23L;10:87864536 - 87864536 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.699_700insCC;p.R234fs * 23;10:87957917 - 87957918 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.134T > C;p.V45A;10:87894079 - 87894079 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.364_377del14;p.I122fs * 53个;10:87933123 - 87933136 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 删除——转移 |
c.388C >;p.R130R;10:87933147 - 87933147 |
子宫内膜 | 癌 | 替换-编码沉默 |
c.723_724insTT;p.E242fs * 15;10:87957941 - 87957942 |
NS | malignant_melanoma | 插入——转移 |
c.134T > C;p.V45A;10:87894079 - 87894079 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.723_724insTT;p.E242fs * 15;10:87957941 - 87957942 |
central_nervous_system;大脑 | 神经胶质瘤 | 插入——转移 |
c.919_922delGAGC;p.E307fs * 9;10:87961011 - 87961014 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.888delT;p.C296fs * 11;10:87960980 - 87960980 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.723_724insTT;p.E242fs * 15;10:87957941 - 87957942 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.723_724insTT;p.E242fs * 15;10:87957941 - 87957942 |
central_nervous_system;大脑 | 神经胶质瘤 | 插入——转移 |
c.723_724insTT;p.E242fs * 15;10:87957941 - 87957942 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.723_724insTT;p.E242fs * 15;10:87957941 - 87957942 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.502A > T;p.I168F;10:87952127 - 87952127 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.701_729del29;p.R234fs * 9;10:87957919 - 87957947 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 删除——转移 |
c.767_768delAG;p.E256fs * 41;10:87957985 - 87957986 |
central_nervous_system;小脑 | 其他;gangliocytoma | 删除——转移 |
c.751_752insTG;p.G251fs * 6;10:87957969 - 87957970 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.313T > C;p.C105R;10:87933072 - 87933072 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.492 + 6解决;p。?。10:87933257 - 87933257 |
central_nervous_system;幕上的 | primitive_neuroectodermal_tumour-medulloblastoma | 未知的 |
c.165_209del45;p.R55_L70 >年代;10:87925513 - 87925557 |
子宫内膜 | 癌;腺癌 | 复杂——删除inframe |
c.1211G > T;p。* 404 l;10:87965471 - 87965471 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 不间断的扩展 |
c.974T >;p.L325H;10:87961066 - 87961066 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.657G > T;p.Q219H;10:87957875 - 87957875 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.80-1G > T;p。?。10:87894024 - 87894024 |
large_intestine;结肠 | 癌;腺癌 | 未知的 |
c.415T > G;p.L139V;10:87933174 - 87933174 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.313T > C;p.C105R;10:87933072 - 87933072 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.1027-1G >;p。?。10:87965286 - 87965286 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.217G >;p.E73K;10:87931053 - 87931053 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.977_978delAC;p.D326fs * 4;10:87961069 - 87961070 |
乳房 | 癌 | 删除——转移 |
c.734_735ins11;p.Q245fs * 15;10:87957952 - 87957953 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.139A > G;p.R47G;10:87894084 - 87894084 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.611C > T;p.P204L;10:87952236 - 87952236 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.155A > G;p.D52G;10:87894100 - 87894100 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.118G > T;p.E40 *;10:87894063 - 87894063 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.118G > T;p.E40 *;10:87894063 - 87894063 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.118G > T;p.E40 *;10:87894063 - 87894063 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.1027-1G >;p。?。10:87965286 - 87965286 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.1027-1G >;p。?。10:87965286 - 87965286 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.118G > T;p.E40 *;10:87894063 - 87894063 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-胡说 |
c.139A > G;p.R47G;10:87894084 - 87894084 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.139A > G;p.R47G;10:87894084 - 87894084 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.549G > T;p.K183N;10:87952174 - 87952174 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.1027-1G >;p。?。10:87965286 - 87965286 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.155A > G;p.D52G;10:87894100 - 87894100 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.18A > G;p.K6K;10:87864487 - 87864487 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.461_462insATTT;p.F154fs * 27个;10:87933220 - 87933221 |
large_intestine | 癌;腺癌 | 插入——转移 |
c.139A > G;p.R47G;10:87894084 - 87894084 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.611C > T;p.P204L;10:87952236 - 87952236 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.611C > T;p.P204L;10:87952236 - 87952236 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.389G > C;p.R130P;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.97_99delATT;p.I33del;10:87894042 - 87894044 |
子宫内膜 | 癌 | 删除——在坐标系 |
c.389G > C;p.R130P;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G > C;p.R130P;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389G > C;p.R130P;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.499A > C;p.T167P;10:87952124 - 87952124 |
乳房 | 癌 | 替换-错义 |
c.1151A > G;p.D384G;10:87965411 - 87965411 |
子宫颈 | 癌 | 替换-错义 |
c.389G > C;p.R130P;10:87933148 - 87933148 |
乳房 | 癌;basal_ _carcinoma(三阴性) | 替换-错义 |
c.389G > C;p.R130P;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.97_99delATT;p.I33del;10:87894042 - 87894044 |
前列腺癌 | 癌 | 删除——在坐标系 |
c.389G > C;p.R130P;10:87933148 - 87933148 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.389G > C;p.R130P;10:87933148 - 87933148 |
乳房 | 癌 | 替换-错义 |
c.35_53del19;p.N12fs * 6;10:87864504 - 87864522 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.795_796insA;p.D268fs * 30;10:87958013 - 87958014 |
胃 | 癌;intestinal_adenocarcinoma | 插入——转移 |
c.389G > C;p.R130P;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.49_51delCAA;p.Q17del;10:87864518 - 87864520 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.389G > C;p.R130P;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.881G >;p.S294N;10:87960973 - 87960973 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.858C > T;p.T286T;10:87960950 - 87960950 |
肺 | 癌;mixed_adenosquamous_carcinoma | 替换-编码沉默 |
c.795_796insA;p.D268fs * 30;10:87958013 - 87958014 |
胃 | 癌;intestinal_adenocarcinoma | 插入——转移 |
c.737_738insGTAA;p.L247fs * 1;10:87957955 - 87957956 |
皮肤;树干 | malignant_melanoma | 插入——转移 |
c.389G > C;p.R130P;10:87933148 - 87933148 |
乳房 | 癌;ductal_carcinoma | 替换-错义 |
c.506C >;p.P169H;10:87952131 - 87952131 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.389G > C;p.R130P;10:87933148 - 87933148 |
肝 | 癌 | 替换-错义 |
c.389G > C;p.R130P;10:87933148 - 87933148 |
子宫内膜 | 癌;mixed_serous_and_endometrioid_carcinoma | 替换-错义 |
c.795_796insA;p.D268fs * 30;10:87958013 - 87958014 |
胃 | 腺癌 | 插入——转移 |
c.922_922delC;p.R308fs * 9;10:87961014 - 87961014 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.673T > C;p.Y225H;10:87957891 - 87957891 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.463T > C;p.Y155H;10:87933222 - 87933222 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.761_765delAAGTA;p.K254fs * 42;10:87957979 - 87957983 |
甲状腺 | 癌;follicular_carcinoma | 删除——转移 |
c.958T > G;p.L320V;10:87961050 - 87961050 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1028T > G;p.V343G;10:87965288 - 87965288 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.976G > T;p.D326Y;10:87961068 - 87961068 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.791T > G;p.M264R;10:87958009 - 87958009 |
皮肤 | malignant_melanoma | 替换-错义 |
c.813delT;p.F271fs * 5;10:87960905 - 87960905 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.286C >;p.P96T;10:87933045 - 87933045 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.514A > G;p.R172G;10:87952139 - 87952139 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.89C >;p.P30Q;10:87894034 - 87894034 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.463T > C;p.Y155H;10:87933222 - 87933222 |
子宫内膜 | 癌 | 替换-错义 |
c.463T > C;p.Y155H;10:87933222 - 87933222 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.463T > C;p.Y155H;10:87933222 - 87933222 |
肺 | 癌;腺癌 | 替换-错义 |
c.1037A > G;p.Y346C;10:87965297 - 87965297 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.253 + 1 g > C;p。?。10:87931090 - 87931090 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.440_441insA;p.A148fs * 32;10:87933199 - 87933200 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.98T > C;p.I33T;10:87894043 - 87894043 |
食管 | 癌;腺癌 | 替换-错义 |
c.635-2A > G;p。?。10:87957851 - 87957851 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.739T > C;p.L247L;10:87957957 - 87957957 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.314G > T;p.C105F;10:87933073 - 87933073 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.723_724insT;p.E242fs * 1;10:87957941 - 87957942 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.328C >;p.Q110K;10:87933087 - 87933087 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.314G > T;p.C105F;10:87933073 - 87933073 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.440A > C;p.K147T;10:87933199 - 87933199 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.314G > T;p.C105F;10:87933073 - 87933073 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.314G > T;p.C105F;10:87933073 - 87933073 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.1154_1155delCT;p.S385fs * 1;10:87965414 - 87965415 |
乳房 | 癌 | 删除——转移 |
c.760_761AA >移行细胞癌;p.K254fs * 44;10:87957978 - 87957979 |
胃 | 癌;腺癌 | 复杂——转移 |
c.314G > T;p.C105F;10:87933073 - 87933073 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.314G > T;p.C105F;10:87933073 - 87933073 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.160_208del49;p.V54fs * 29;10:87894105 - 87925556 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.723_724insT;p.E242fs * 1;10:87957941 - 87957942 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.739T > C;p.L247L;10:87957957 - 87957957 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-编码沉默 |
c.978_979insC;p.D326fs * 4;10:87961070 - 87961071 |
卵巢 | 癌;endometrioid_carcinoma | 插入——转移 |
c.1026 + 1 g >;p。?。10:87961119 - 87961119 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.457G >;p.D153N;10:87933216 - 87933216 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.221_221delG;p.R74fs * 25;10:87931057 - 87931057 |
乳房 | 癌;ductal_carcinoma | 删除——转移 |
c.432_433insG;p.F145fs * 35;10:87933191 - 87933192 |
甲状腺 | 癌;anaplastic_carcinoma | 插入——转移 |
c.210-48delCCTAA;p。?。10:87930998 - 87931002 |
阴户 | in_situ_neoplasm;vulvar_intraepithelial_neoplasia_Grade_I | 未知的 |
c.210-48delCCTAA;p。?。10:87930998 - 87931002 |
阴户 | 癌;squamous_cell_carcinoma | 未知的 |
c.1026 + 1 g >;p。?。10:87961119 - 87961119 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.182A > T;p.H61L;10:87925530 - 87925530 |
biliary_tract;胆囊 | 癌;腺癌 | 替换-错义 |
c.334C > T;p.L112L;10:87933093 - 87933093 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.1-9C > T;p。?。10:87864461 - 87864461 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.182A > T;p.H61L;10:87925530 - 87925530 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm;Burkitt_lymphoma | 替换-错义 |
c.731C >;p.P244H;10:87957949 - 87957949 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.801 + 1 g > T;p。?。10:87958020 - 87958020 |
large_intestine;盲肠 | 癌;腺癌 | 未知的 |
c.371G > C;p.C124S;10:87933130 - 87933130 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.371G > C;p.C124S;10:87933130 - 87933130 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.801 + 1 g > T;p。?。10:87958020 - 87958020 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.1025A > G;p.K342R;10:87961117 - 87961117 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.43A > G;p.R15G;10:87864512 - 87864512 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.259C > T;p.Q87 *;10:87933018 - 87933018 |
前列腺癌 | 癌;腺癌 | 替换-胡说 |
c.1069C > T;p.P357S;10:87965329 - 87965329 |
肺 | 癌;腺癌 | 替换-错义 |
c.371G > C;p.C124S;10:87933130 - 87933130 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.371G > C;p.C124S;10:87933130 - 87933130 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.43A > G;p.R15G;10:87864512 - 87864512 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;Burkitt_lymphoma | 替换-错义 |
c.860_867delCAGAAAAA;p.S287fs * 8;10:87960952 - 87960959 |
子宫内膜 | 增生;非典型的 | 删除——转移 |
c.615G >;p.M205I;10:87952240 - 87952240 |
upper_aerodigestive_tract;喉 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.974T > G;p.L325R;10:87961066 - 87961066 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.259C > T;p.Q87 *;10:87933018 - 87933018 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.615G >;p.M205I;10:87952240 - 87952240 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.762_764delAGT;p.V255delV;10:87957980 - 87957982 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.801 + 1 g > T;p。?。10:87958020 - 87958020 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.60delA;p.F21fs * 3;10:87864529 - 87864529 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.1025A > G;p.K342R;10:87961117 - 87961117 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.22_42ATCGTTAGCAGAAACAAAAGG > 21;p.I8_R14 > LRLICIF;10:87864491 - 87864511 |
central_nervous_system;occipital_lobe | 神经胶质瘤 | 复杂——复合替换 |
c.690delA;p.G230fs * 26;10:87957908 - 87957908 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.900delC;p.I300fs * 7;10:87960992 - 87960992 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.1025A > G;p.K342R;10:87961117 - 87961117 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.974T > G;p.L325R;10:87961066 - 87961066 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1069C > T;p.P357S;10:87965329 - 87965329 |
子宫内膜 | 癌 | 替换-错义 |
c.278A > T;p.H93L;10:87933037 - 87933037 |
乳房 | 癌 | 替换-错义 |
c.1009_1012delTTTT;p.F337fs * 6;10:87961101 - 87961104 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.884_885insT;p.L295fs * 3;10:87960976 - 87960977 |
甲状腺 | 癌;papillary_carcinoma | 插入——转移 |
c.133delG;p.V45fs * 9;10:87894078 - 87894078 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | primitive_neuroectodermal_tumour-medulloblastoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;腺癌 | 替换-胡说 |
c.382_390del9;p.K128_R130del;10:87933141 - 87933149 |
子宫内膜 | 癌;腺癌 | 删除——在坐标系 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
biliary_tract;bile_duct | 癌;腺癌 | 替换-胡说 |
c.394G >;p.G132S;10:87933153 - 87933153 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.963_964insA;p.T321fs * 3;10:87961055 - 87961056 |
胃 | 癌;腺癌 | 插入——转移 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
前列腺癌 | 癌;腺癌 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;脑干 | 神经胶质瘤;astrocytoma_Grade_III | 替换-胡说 |
c.957_958insT;p.T319fs * 5;10:87961049 - 87961050 |
子宫内膜 | 癌;腺癌 | 插入——转移 |
c.963_964insA;p.T321fs * 3;10:87961055 - 87961056 |
子宫内膜 | 癌 | 插入——转移 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
卵巢 | 癌;mucinous_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.963_964insA;p.T321fs * 3;10:87961055 - 87961056 |
子宫内膜 | 癌 | 插入——转移 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;occipital_lobe | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;clear_cell_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
large_intestine;盲肠 | 癌;腺癌 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
前列腺癌 | 癌;腺癌 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.75G > C;p.L25F;10:87864544 - 87864544 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.394G >;p.G132S;10:87933153 - 87933153 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.117A > G;p.A39A;10:87894062 - 87894062 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
卵巢 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.253 + 3 G >;p。?。10:87931092 - 87931092 |
的眼睛;uveal_tract | malignant_melanoma | 未知的 |
c.117A > G;p.A39A;10:87894062 - 87894062 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
前列腺癌 | 癌;腺癌 | 替换-胡说 |
c.963_964insA;p.T321fs * 3;10:87961055 - 87961056 |
子宫内膜 | 癌 | 插入——转移 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.963_964insA;p.T321fs * 3;10:87961055 - 87961056 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.117A > G;p.A39A;10:87894062 - 87894062 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
large_intestine | 癌;腺癌 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 增生 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.963_964insA;p.T321fs * 3;10:87961055 - 87961056 |
子宫内膜 | 癌;腺癌 | 插入——转移 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
前列腺癌 | 癌;腺癌 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
large_intestine | 癌;腺癌 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;髓质 | primitive_neuroectodermal_tumour-medulloblastoma;经典 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;gliosarcoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫颈 | 癌;腺癌 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-胡说 |
c.394G >;p.G132S;10:87933153 - 87933153 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
large_intestine;直肠 | 癌;腺癌 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
食道;middle_third | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.963_964insA;p.T321fs * 3;10:87961055 - 87961056 |
子宫内膜 | 癌;腺癌 | 插入——转移 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌 | 替换-胡说 |
c.635-9A > G;p。?。10:87957844 - 87957844 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
soft_tissue;smooth_muscle | 平滑肌肉瘤 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
前列腺癌 | 癌;腺癌 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.117A > G;p.A39A;10:87894062 - 87894062 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-胡说 |
c.645delT;p.F215fs * 6;10:87957863 - 87957863 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
large_intestine;盲肠 | 癌;腺癌 | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.963_964insA;p.T321fs * 3;10:87961055 - 87961056 |
子宫内膜 | 癌;腺癌 | 插入——转移 |
c.117A > G;p.A39A;10:87894062 - 87894062 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.388C > T;p.R130 *;10:87933147 - 87933147 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-胡说 |
c.40A > G;p.R14G;10:87864509 - 87864509 |
阴户 | in_situ_neoplasm;vulvar_intraepithelial_neoplasia_Grade_III | 替换-错义 |
c.368A > T;p.H123L;10:87933127 - 87933127 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.40A > G;p.R14G;10:87864509 - 87864509 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.740_741insA;p.P248fs * 5;10:87957958 - 87957959 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.40A > G;p.R14G;10:87864509 - 87864509 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;Burkitt_lymphoma | 替换-错义 |
c.1042A > G;p.T348A;10:87965302 - 87965302 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.40A > G;p.R14G;10:87864509 - 87864509 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.1042A > G;p.T348A;10:87965302 - 87965302 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.508_508delA;p.S170fs * 13;10:87952133 - 87952133 |
肺 | 癌;squamous_cell_carcinoma | 删除——转移 |
c.209 + 5 g >;p。?。10:87925562 - 87925562 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 未知的 |
c.968A > C;p.N323T;10:87961060 - 87961060 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.740_741insA;p.P248fs * 5;10:87957958 - 87957959 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.461delT;p.F154fs * 5;10:87933220 - 87933220 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.492 + 14 t > C;p。?。10:87933265 - 87933265 |
的眼睛;uveal_tract | malignant_melanoma | 未知的 |
c.1042A > G;p.T348A;10:87965302 - 87965302 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.461delT;p.F154fs * 5;10:87933220 - 87933220 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.492 + 14 t > C;p。?。10:87933265 - 87933265 |
的眼睛;uveal_tract | malignant_melanoma | 未知的 |
c.40A > G;p.R14G;10:87864509 - 87864509 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.70_71insA;p.D24fs * 20;10:87864539 - 87864540 |
central_nervous_system;大脑 | 神经胶质瘤 | 插入——转移 |
c.70_71insA;p.D24fs * 20;10:87864539 - 87864540 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.262T >;p.Y88N;10:87933021 - 87933021 |
卵巢 | 癌;endometrioid_carcinoma | 替换-错义 |
c.586_587insG;p.H196fs * 6;10:87952211 - 87952212 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.460T > G;p.F154V;10:87933219 - 87933219 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.493-2A > G;p。?。10:87952116 - 87952116 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.897_915del19;p.E299fs * 2;10:87960989 - 87961007 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.209 + 4 delagta;p。?。10:87925561 - 87925564 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.1036T > G;p.Y346D;10:87965296 - 87965296 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.143A > T;p.N48I;10:87894088 - 87894088 |
urinary_tract;膀胱 | 癌;transitional_cell_carcinoma | 替换-错义 |
c.493-2A > G;p。?。10:87952116 - 87952116 |
乳房 | 癌 | 未知的 |
c.143A > T;p.N48I;10:87894088 - 87894088 |
乳房 | 癌 | 替换-错义 |
c.1031A > G;p.K344R;10:87965291 - 87965291 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1031A > G;p.K344R;10:87965291 - 87965291 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1031A > G;p.K344R;10:87965291 - 87965291 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.405_423del19;p.I135fs * 6;10:87933164 - 87933182 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.537_540delCTAC;p.S179fs * 3;10:87952162 - 87952165 |
子宫内膜 | 增生;complex-atypical | 删除——转移 |
c.1031A > G;p.K344R;10:87965291 - 87965291 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1031A > G;p.K344R;10:87965291 - 87965291 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.234C > T;p.T78T;10:87931070 - 87931070 |
肺 | 癌;small_cell_carcinoma | 替换-编码沉默 |
c.752G >;p.G251D;10:87957970 - 87957970 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.425delG;p.G143fs * 4;10:87933184 - 87933184 |
卵巢 | 癌;clear_cell_carcinoma | 删除——转移 |
c.752G >;p.G251D;10:87957970 - 87957970 |
皮肤;树干 | malignant_melanoma | 替换-错义 |
c.384G >;p.K128K;10:87933143 - 87933143 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.752G >;p.G251D;10:87957970 - 87957970 |
皮肤;树干 | malignant_melanoma | 替换-错义 |
c.28A > C;p.S10R;10:87864497 - 87864497 |
乳房 | 癌 | 替换-错义 |
c.278A > G;p.H93R;10:87933037 - 87933037 |
子宫内膜 | 癌;carcinosarcoma-malignant_mesodermal_mixed_tumour | 替换-错义 |
c.179_179delA;p.K60fs * 39;10:87925527 - 87925527 |
乳房 | 癌 | 删除——转移 |
c.362_363delCA;p.A121fs * 4;10:87933121 - 87933122 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.728delT;p.F243fs * 13;10:87957946 - 87957946 |
子宫内膜 | 癌 | 删除——转移 |
c.278A > G;p.H93R;10:87933037 - 87933037 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.394G > T;p.G132C;10:87933153 - 87933153 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.492 + 2解决;p。?。10:87933253 - 87933253 |
肝 | 癌;hepatocellular_carcinoma | 未知的 |
c.594_596delGAT;p.M199del;10:87952219 - 87952221 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——在坐标系 |
c.728delT;p.F243fs * 13;10:87957946 - 87957946 |
子宫内膜 | 癌 | 删除——转移 |
c.959T > G;p.L320 *;10:87961051 - 87961051 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1030A > G;p.K344E;10:87965290 - 87965290 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.179_179delA;p.K60fs * 39;10:87925527 - 87925527 |
乳房 | 癌 | 删除——转移 |
c.135A > G;p.V45V;10:87894080 - 87894080 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.600_601insTT;p.F200fs * 21;10:87952225 - 87952226 |
子宫内膜 | 增生;非典型的 | 插入——转移 |
c.135A > G;p.V45V;10:87894080 - 87894080 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.1030A > G;p.K344E;10:87965290 - 87965290 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.492 + 2解决;p。?。10:87933253 - 87933253 |
肝 | 癌;hepatocellular_carcinoma | 未知的 |
c.1030A > G;p.K344E;10:87965290 - 87965290 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.594_596delGAT;p.M199del;10:87952219 - 87952221 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.661_707del47;p.K221fs * 6;10:87957879 - 87957925 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 删除——转移 |
c.600_601insTT;p.F200fs * 21;10:87952225 - 87952226 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.179_179delA;p.K60fs * 39;10:87925527 - 87925527 |
乳房 | 增生;atypical_ductal_hyperplasia | 删除——转移 |
c.910T > G;p.C304G;10:87961002 - 87961002 |
肝 | 癌;hepatocellular_carcinoma | 替换-错义 |
c.278A > G;p.H93R;10:87933037 - 87933037 |
子宫内膜 | 癌 | 替换-错义 |
c.492 + 2解决;p。?。10:87933253 - 87933253 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.1030A > G;p.K344E;10:87965290 - 87965290 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.492 + 2解决;p。?。10:87933253 - 87933253 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.278A > G;p.H93R;10:87933037 - 87933037 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.179_179delA;p.K60fs * 39;10:87925527 - 87925527 |
乳房 | 癌 | 删除——转移 |
c.165-18T >;p。?。10:87925495 - 87925495 |
皮肤 | malignant_melanoma | 未知的 |
c.13A > G;p.I5V;10:87864482 - 87864482 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.30C > G;p.S10R;10:87864499 - 87864499 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.424C > T;p.R142W;10:87933183 - 87933183 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.424C > T;p.R142W;10:87933183 - 87933183 |
子宫颈 | 癌 | 替换-错义 |
c.650_651insT;p.C218fs * 25;10:87957868 - 87957869 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.545_546insA;p.N184fs * 6;10:87952170 - 87952171 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.275A > C;p.D92A;10:87933034 - 87933034 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.209 + 2解决;p。?。10:87925559 - 87925559 |
乳房 | 癌 | 未知的 |
c.1144A > T;p.T382S;10:87965404 - 87965404 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.279T > G;p.H93Q;10:87933038 - 87933038 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.424C > T;p.R142W;10:87933183 - 87933183 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.62T > C;p.F21S;10:87864531 - 87864531 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.165-18T >;p。?。10:87925495 - 87925495 |
皮肤 | malignant_melanoma | 未知的 |
c.545_546insA;p.N184fs * 6;10:87952170 - 87952171 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.62T > C;p.F21S;10:87864531 - 87864531 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.424C > T;p.R142W;10:87933183 - 87933183 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.424C > T;p.R142W;10:87933183 - 87933183 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.756T > C;p.D252D;10:87957974 - 87957974 |
salivary_gland | 癌;mucoepidermoid_carcinoma | 替换-编码沉默 |
c.910T >;p.C304S;10:87961002 - 87961002 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_I | 替换-错义 |
c.649G >;p.V217I;10:87957867 - 87957867 |
皮肤 | malignant_melanoma | 替换-错义 |
c.279T > G;p.H93Q;10:87933038 - 87933038 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.424C > T;p.R142W;10:87933183 - 87933183 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.723delT;p.F241fs * 15;10:87957941 - 87957941 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.279T > G;p.H93Q;10:87933038 - 87933038 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.355G >;p.V119I;10:87933114 - 87933114 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.370delT;p.C124fs * 10;10:87933129 - 87933129 |
central_nervous_system;大脑 | 神经胶质瘤 | 删除——转移 |
c.370delT;p.C124fs * 10;10:87933129 - 87933129 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.8C >;p.A3D;10:87864477 - 87864477 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.242T > G;p.F81C;10:87931078 - 87931078 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.389delG;p.R130fs * 4;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.389delG;p.R130fs * 4;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.389delG;p.R130fs * 4;10:87933148 - 87933148 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.355G >;p.V119I;10:87933114 - 87933114 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.355G >;p.V119I;10:87933114 - 87933114 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.389delG;p.R130fs * 4;10:87933148 - 87933148 |
卵巢 | 癌;clear_cell_carcinoma | 删除——转移 |
c.595_597delATG;p.M199del;10:87952220 - 87952222 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 删除——在坐标系 |
c.827delA;p.N276fs * 15;10:87960919 - 87960919 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.8C >;p.A3D;10:87864477 - 87864477 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.595_597delATG;p.M199del;10:87952220 - 87952222 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——在坐标系 |
c.389delG;p.R130fs * 4;10:87933148 - 87933148 |
salivary_gland | 癌;adenoid_cystic_carcinoma | 删除——转移 |
c.496G > C;p.V166L;10:87952121 - 87952121 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm;Burkitt_lymphoma | 替换-错义 |
c.440A > T;p.K147M;10:87933199 - 87933199 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.389delG;p.R130fs * 4;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.389delG;p.R130fs * 4;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.389delG;p.R130fs * 4;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.389delG;p.R130fs * 4;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.389delG;p.R130fs * 4;10:87933148 - 87933148 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.242T > G;p.F81C;10:87931078 - 87931078 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.370delT;p.C124fs * 10;10:87933129 - 87933129 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.490A > G;p.K164E;10:87933249 - 87933249 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.389delG;p.R130fs * 4;10:87933148 - 87933148 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.595_597delATG;p.M199del;10:87952220 - 87952222 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 删除——在坐标系 |
c.389delG;p.R130fs * 4;10:87933148 - 87933148 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.165-2insA;p。?。10:87925511 - 87925512 |
阴户 | 癌;squamous_cell_carcinoma | 未知的 |
c.1026G > T;p.K342N;10:87961118 - 87961118 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.184delA;p.N63fs * 36;10:87925532 - 87925532 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.54_57delGGAT;p.E18fs * 5;10:87864523 - 87864526 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.671_679del9;p.I224_S227 > T;10:87957889 - 87957897 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 复杂——删除inframe |
c.184delA;p.N63fs * 36;10:87925532 - 87925532 |
胃 | 癌;intestinal_adenocarcinoma | 删除——转移 |
c.811T > C;p.F271L;10:87960903 - 87960903 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.811T > C;p.F271L;10:87960903 - 87960903 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.254-22_269del38;p。?。10:87932991 - 87933028 |
乳房 | 癌 | 未知的 |
c.104T > G;p.M35R;10:87894049 - 87894049 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.740T > R;p.L247 *;10:87957958 - 87957958 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm | 替换-胡说 |
c.243T >;p.F81L;10:87931079 - 87931079 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.384G > T;p.K128N;10:87933143 - 87933143 |
central_nervous_system;大脑 | 神经胶质瘤;少突神经胶质瘤 | 替换-错义 |
c.243T >;p.F81L;10:87931079 - 87931079 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.384G > T;p.K128N;10:87933143 - 87933143 |
皮肤;lower_leg | malignant_melanoma | 替换-错义 |
c.253 + 5 g > T;p。?。10:87931094 - 87931094 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm | 未知的 |
c.1000A > G;p.N334D;10:87961092 - 87961092 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.820T > G;p.W274G;10:87960912 - 87960912 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.133G >;p.V45I;10:87894078 - 87894078 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.156_158delTGT;p.D52_V53 > E;10:87894101 - 87894103 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 复杂——删除inframe |
c.254 - 67 t >;p。?。10:87932946 - 87932946 |
子宫内膜 | 癌 | 未知的 |
c.950_954delTACTT;p.V317fs * 6;10:87961042 - 87961046 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.950_954delTACTT;p.V317fs * 6;10:87961042 - 87961046 |
子宫内膜 | 增生 | 删除——转移 |
c.559G > T;p.D187Y;10:87952184 - 87952184 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.384G > T;p.K128N;10:87933143 - 87933143 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.641A > G;p.Q214R;10:87957859 - 87957859 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.384G > T;p.K128N;10:87933143 - 87933143 |
皮肤 | malignant_melanoma | 替换-错义 |
c.253 + 5 g > T;p。?。10:87931094 - 87931094 |
haematopoietic_and_lymphoid_tissue;lymph_node | lymphoid_neoplasm | 未知的 |
c.127delG;p.E43fs * 11;10:87894072 - 87894072 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.1091C > G;p.S364C;10:87965351 - 87965351 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.328C > T;p.Q110 *;10:87933087 - 87933087 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.900C > T;p.I300I;10:87960992 - 87960992 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-编码沉默 |
c.178A > T;p.K60 *;10:87925526 - 87925526 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.760A > G;p.K254E;10:87957978 - 87957978 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.41G > T;p.R14M;10:87864510 - 87864510 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.900C > T;p.I300I;10:87960992 - 87960992 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-编码沉默 |
c.823delG;p.V275fs * 1;10:87960915 - 87960915 |
乳房 | 癌;ductal_carcinoma | 删除——转移 |
c.991G > C;p.D331H;10:87961083 - 87961083 |
食管 | 癌;腺癌 | 替换-错义 |
c.328C > T;p.Q110 *;10:87933087 - 87933087 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1091C > G;p.S364C;10:87965351 - 87965351 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.1212A > C;p。* 404 c;10:87965472 - 87965472 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 不间断的扩展 |
c.900C > T;p.I300I;10:87960992 - 87960992 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-编码沉默 |
c.760A > G;p.K254E;10:87957978 - 87957978 |
salivary_gland | 癌;mucoepidermoid_carcinoma | 替换-错义 |
c.559delG;p.D187fs * 12;10:87952184 - 87952184 |
子宫内膜 | 癌;mixed_endometrioid_and_clear_cell_carcinoma | 删除——转移 |
c.253 + 42 c > T;p。?。10:87931131 - 87931131 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 未知的 |
c.328C > T;p.Q110 *;10:87933087 - 87933087 |
前列腺癌 | 癌;腺癌 | 替换-胡说 |
c.190_191delCA;p.H64fs * 9;10:87925538 - 87925539 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.479C > T;p.T160I;10:87933238 - 87933238 |
的眼睛;uveal_tract | malignant_melanoma | 替换-错义 |
c.823delG;p.V275fs * 1;10:87960915 - 87960915 |
乳房 | 癌 | 删除——转移 |
c.328C > T;p.Q110 *;10:87933087 - 87933087 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.165_492del328;p.F56fs * 2;10:87925513 - 87933251 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.328C > T;p.Q110 *;10:87933087 - 87933087 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.137A > G;p.Y46C;10:87894082 - 87894082 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.511C > T;p.Q171 *;10:87952136 - 87952136 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.511C > T;p.Q171 *;10:87952136 - 87952136 |
食管 | 癌 | 替换-胡说 |
c.755A > T;p.D252V;10:87957973 - 87957973 |
甲状腺 | 癌 | 替换-错义 |
c.511C > T;p.Q171 *;10:87952136 - 87952136 |
肝 | 癌 | 替换-胡说 |
c.124C > G;p.L42V;10:87894069 - 87894069 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.404_405insT;p.I135fs * 45;10:87933163 - 87933164 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.511C > T;p.Q171 *;10:87952136 - 87952136 |
肝 | 癌 | 替换-胡说 |
c.635-9A > C;p。?。10:87957844 - 87957844 |
子宫内膜;卵巢 | 子宫内膜异位 | 未知的 |
c.701G > T;p.R234L;10:87957919 - 87957919 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.511C > T;p.Q171 *;10:87952136 - 87952136 |
central_nervous_system;大脑 | 神经胶质瘤;ependymoma_Grade_III-IV | 替换-胡说 |
c.714C > T;p.F238F;10:87957932 - 87957932 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.625G > T;p.G209 *;10:87952250 - 87952250 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-胡说 |
c.700_701insCACGCTA;p.R234fs * 3;10:87957918 - 87957919 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.511C > T;p.Q171 *;10:87952136 - 87952136 |
central_nervous_system;大脑 | 神经胶质瘤;ependymoma_Grade_III-IV | 替换-胡说 |
c.137A > G;p.Y46C;10:87894082 - 87894082 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.404_405insT;p.I135fs * 45;10:87933163 - 87933164 |
卵巢 | 癌;endometrioid_carcinoma | 插入——转移 |
c.430A > C;p.K144Q;10:87933189 - 87933189 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.625G > T;p.G209 *;10:87952250 - 87952250 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-胡说 |
c.511C > T;p.Q171 *;10:87952136 - 87952136 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.828T > G;p.N276K;10:87960920 - 87960920 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.404_405insT;p.I135fs * 45;10:87933163 - 87933164 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——转移 |
c.511C > T;p.Q171 *;10:87952136 - 87952136 |
central_nervous_system;大脑 | 神经胶质瘤;ependymoma_Grade_III-IV | 替换-胡说 |
c.430A > C;p.K144Q;10:87933189 - 87933189 |
salivary_gland | 癌;adenoid_cystic_carcinoma | 替换-错义 |
c.210-1G >;p。?。10:87931045 - 87931045 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.511C > T;p.Q171 *;10:87952136 - 87952136 |
卵巢 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.825A > G;p.V275V;10:87960917 - 87960917 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.511C > T;p.Q171 *;10:87952136 - 87952136 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.210-1G >;p。?。10:87931045 - 87931045 |
前列腺癌 | 癌;腺癌 | 未知的 |
c.511C > T;p.Q171 *;10:87952136 - 87952136 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.1189C > T;p.H397Y;10:87965449 - 87965449 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.511C > T;p.Q171 *;10:87952136 - 87952136 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.625G > T;p.G209 *;10:87952250 - 87952250 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.209 + 5 g > T;p。?。10:87925562 - 87925562 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 未知的 |
c.511C > T;p.Q171 *;10:87952136 - 87952136 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.416_419delTATT;p.L139fs * 7;10:87933175 - 87933178 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 删除——转移 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.93C > G;p.N31K;10:87894038 - 87894038 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.80A > G;p.Y27C;10:87894025 - 87894025 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫颈 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.80A > G;p.Y27C;10:87894025 - 87894025 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.201_202insA;p.Y68fs * 6;10:87925549 - 87925550 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 插入——转移 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.416_419delTATT;p.L139fs * 7;10:87933175 - 87933178 |
子宫颈 | 癌;endocervical_adenocarcinoma | 删除——转移 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
肺 | 癌;non_small_cell_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌 | 替换-错义 |
c.103A > G;p.M35V;10:87894048 - 87894048 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.210-13A > G;p。?。10:87931033 - 87931033 |
子宫内膜 | 癌;endometrioid_carcinoma | 未知的 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.317A > G;p.E106G;10:87933076 - 87933076 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.317A > G;p.E106G;10:87933076 - 87933076 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.822G >;p.W274 *;10:87960914 - 87960914 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.103A > G;p.M35V;10:87894048 - 87894048 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
皮肤 | malignant_melanoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 增生 | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;mixed_endometrioid_and_clear_cell_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.822G >;p.W274 *;10:87960914 - 87960914 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.80A > G;p.Y27C;10:87894025 - 87894025 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.80A > G;p.Y27C;10:87894025 - 87894025 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.1026 + 2 t > C;p。?。10:87961120 - 87961120 |
large_intestine;盲肠 | 癌;腺癌 | 未知的 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.103A > G;p.M35V;10:87894048 - 87894048 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.79 + 25 c >;p。?。10:87864573 - 87864573 |
upper_aerodigestive_tract;喉 | 癌;squamous_cell_carcinoma | 未知的 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.461T > G;p.F154C;10:87933220 - 87933220 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;serous_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.2T >;p.M1K;10:87864471 - 87864471 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.80A > G;p.Y27C;10:87894025 - 87894025 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.38_41delAAAG;p.K13fs * 10;10:87864507 - 87864510 |
皮肤 | malignant_melanoma | 删除——转移 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.103A > G;p.M35V;10:87894048 - 87894048 |
肝 | 癌;hepatocellular_carcinoma | 替换-错义 |
c.517C > T;p.R173C;10:87952142 - 87952142 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1026 + 2 t > C;p。?。10:87961120 - 87961120 |
large_intestine;结肠 | 癌;腺癌 | 未知的 |
c.822G >;p.W274 *;10:87960914 - 87960914 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;Burkitt_lymphoma | 替换-胡说 |
c.795delA;p.K267fs * 9;10:87958013 - 87958013 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.795delA;p.K267fs * 9;10:87958013 - 87958013 |
large_intestine;盲肠 | 癌;腺癌 | 删除——转移 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.795delA;p.K267fs * 9;10:87958013 - 87958013 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.795delA;p.K267fs * 9;10:87958013 - 87958013 |
胃 | 癌;intestinal_adenocarcinoma | 删除——转移 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 增生;complex-atypical | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.690A > G;p.G230G;10:87957908 - 87957908 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.773delT;p.F258fs * 8;10:87957991 - 87957991 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.356T >;p.V119D;10:87933115 - 87933115 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
胃 | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
large_intestine | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-胡说 |
c.795delA;p.K267fs * 9;10:87958013 - 87958013 |
胃 | 癌;intestinal_adenocarcinoma | 删除——转移 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
large_intestine;直肠 | 癌;腺癌 | 替换-胡说 |
c.742_743insA;p.P248fs * 5;10:87957960 - 87957961 |
子宫内膜 | 癌;腺癌 | 插入——转移 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-胡说 |
c.131G >;p.G44D;10:87894076 - 87894076 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
large_intestine | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
肺 | 癌;large_cell_carcinoma | 替换-胡说 |
c.1009delT;p.F337fs * 7;10:87961101 - 87961101 |
子宫内膜 | 癌;serous_carcinoma | 删除——转移 |
c.795delA;p.K267fs * 9;10:87958013 - 87958013 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.131G >;p.G44D;10:87894076 - 87894076 |
central_nervous_system;大脑 | 神经胶质瘤;oligodendroglioma_Grade_II | 替换-错义 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
large_intestine;盲肠 | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.131G >;p.G44D;10:87894076 - 87894076 |
阴户 | in_situ_neoplasm;vulvar_intraepithelial_neoplasia_Grade_III | 替换-错义 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
large_intestine | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 增生;complex-atypical | 替换-胡说 |
c.795delA;p.K267fs * 9;10:87958013 - 87958013 |
胃 | 腺癌 | 删除——转移 |
c.47_48insA;p.Y16fs * 1;10:87864516 - 87864517 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 插入——转移 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.795delA;p.K267fs * 9;10:87958013 - 87958013 |
胃 | 腺癌 | 删除——转移 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
胃 | 癌;腺癌 | 替换-胡说 |
c.795delA;p.K267fs * 9;10:87958013 - 87958013 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.758T > C;p.I253T;10:87957976 - 87957976 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
卵巢 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.740T > G;p.L247 *;10:87957958 - 87957958 |
皮肤 | malignant_melanoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;gliosarcoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 增生;complex-atypical | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
large_intestine | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.154G >;p.D52N;10:87894099 - 87894099 |
皮肤 | malignant_melanoma | 替换-错义 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
肺 | 癌;non_small_cell_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫颈 | 癌;endometrioid_adenocarcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
soft_tissue;fibrous_tissue_and_uncertain_o | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | 替换-胡说 |
c.690A > G;p.G230G;10:87957908 - 87957908 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.795delA;p.K267fs * 9;10:87958013 - 87958013 |
large_intestine;盲肠 | 癌;腺癌 | 删除——转移 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;carcinosarcoma-malignant_mesodermal_mixed_tumour | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.795delA;p.K267fs * 9;10:87958013 - 87958013 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.818T > C;p.F273S;10:87960910 - 87960910 |
乳房 | 癌;basal_ _carcinoma(三阴性) | 替换-错义 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
large_intestine | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.758T > C;p.I253T;10:87957976 - 87957976 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
肺 | 癌;small_cell_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;serous_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
胃 | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.209 + 1 delg;p。?。10:87925558 - 87925558 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 未知的 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
soft_tissue;fibrous_tissue_and_uncertain_o | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | 替换-胡说 |
c.209 + 1 delg;p。?。10:87925558 - 87925558 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 未知的 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫颈 | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
前列腺癌 | 癌 | 替换-胡说 |
c.795delA;p.K267fs * 9;10:87958013 - 87958013 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.795delA;p.K267fs * 9;10:87958013 - 87958013 |
卵巢 | 癌;clear_cell_carcinoma | 删除——转移 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.209 + 1 delg;p。?。10:87925558 - 87925558 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 未知的 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-胡说 |
c.403_405delATA;p.I135del;10:87933162 - 87933164 |
乳房 | 癌 | 删除——在坐标系 |
c.1009delT;p.F337fs * 7;10:87961101 - 87961101 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.200T >;p.I67K;10:87925548 - 87925548 |
肝 | 癌;hepatocellular_carcinoma | 替换-错义 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 增生;complex-atypical | 替换-胡说 |
c.131G >;p.G44D;10:87894076 - 87894076 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
肺 | 癌;non_small_cell_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.209 + 1 delg;p。?。10:87925558 - 87925558 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 未知的 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.697C > T;p.R233 *;10:87957915 - 87957915 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.200T >;p.I67K;10:87925548 - 87925548 |
胃 | 癌;腺癌 | 替换-错义 |
c.75G > T;p.L25F;10:87864544 - 87864544 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.140delG;p.N48fs * 6;10:87894085 - 87894085 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.1106T > G;p.V369G;10:87965366 - 87965366 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.543G >;p.L181L;10:87952168 - 87952168 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.140delG;p.N48fs * 6;10:87894085 - 87894085 |
乳房 | 癌 | 删除——转移 |
c.829A > G;p.T277A;10:87960921 - 87960921 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.632G >;p.C211Y;10:87952257 - 87952257 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.650T >;p.V217D;10:87957868 - 87957868 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;Burkitt_lymphoma | 替换-错义 |
c.348delC;p.D116fs * 18;10:87933107 - 87933107 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.338_341delGTGA;p.S113fs * 20;10:87933097 - 87933100 |
子宫内膜 | 癌 | 删除——转移 |
c.50A > C;p.Q17P;10:87864519 - 87864519 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.492 + 2 t >;p。?。10:87933253 - 87933253 |
皮肤 | malignant_melanoma | 未知的 |
c.240A > G;p.K80K;10:87931076 - 87931076 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.81T > G;p.Y27 *;10:87894026 - 87894026 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-胡说 |
c.438A > G;p.L146L;10:87933197 - 87933197 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.401T > C;p.M134T;10:87933160 - 87933160 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.348delC;p.D116fs * 18;10:87933107 - 87933107 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.355delG;p.V119fs * 15;10:87933114 - 87933114 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.944_945insCT;p.L316fs * 2;10:87961036 - 87961037 |
肺 | 癌;squamous_cell_carcinoma | 插入——转移 |
c.493_631del139;p.G165fs * 9;10:87952118 - 87952259 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.170T > G;p.L57W;10:87925518 - 87925518 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.392_411del20;p.T131fs * 42;10:87933151 - 87933170 |
子宫内膜 | 增生;complex-atypical | 删除——转移 |
c.530A > G;p.Y177C;10:87952155 - 87952155 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.71A > G;p.D24G;10:87864540 - 87864540 |
子宫内膜 | 癌;腺癌 | 替换-错义 |
c.276C > G;p.D92E;10:87933035 - 87933035 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.170T > G;p.L57W;10:87925518 - 87925518 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 替换-错义 |
c.736_737insAG;p.P246fs * 11;10:87957954 - 87957955 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.553C > G;p.H185D;10:87952178 - 87952178 |
胰腺 | 癌 | 替换-错义 |
c.71A > G;p.D24G;10:87864540 - 87864540 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.752_762del11;p.D252fs * 42;10:87957970 - 87957980 |
乳房 | 癌 | 删除——转移 |
c.758T >;p.I253N;10:87957976 - 87957976 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.530A > G;p.Y177C;10:87952155 - 87952155 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.71A > G;p.D24G;10:87864540 - 87864540 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.530A > G;p.Y177C;10:87952155 - 87952155 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.404T > C;p.I135T;10:87933163 - 87933163 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.418_419insTAC;p.L140_H141insL;10:87933177 - 87933178 |
子宫内膜 | 癌;endometrioid_carcinoma | 插入——在坐标系 |
c.276C > G;p.D92E;10:87933035 - 87933035 |
upper_aerodigestive_tract;口 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.71A > G;p.D24G;10:87864540 - 87864540 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.431A > C;p.K144T;10:87933190 - 87933190 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.493_631del139;p.G165fs * 9;10:87952118 - 87952259 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 删除——转移 |
c.273A > G;p.E91E;10:87933032 - 87933032 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.103A > C;p.M35L;10:87894048 - 87894048 |
乳房 | 癌;ductal_carcinoma | 替换-错义 |
c.530A > G;p.Y177C;10:87952155 - 87952155 |
肝 | 癌 | 替换-错义 |
c.276C > G;p.D92E;10:87933035 - 87933035 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.170T > G;p.L57W;10:87925518 - 87925518 |
central_nervous_system;大脑 | 神经胶质瘤 | 替换-错义 |
c.530A > G;p.Y177C;10:87952155 - 87952155 |
肝 | 癌 | 替换-错义 |
c.1054G > T;p.E352 *;10:87965314 - 87965314 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-胡说 |
c.276C > G;p.D92E;10:87933035 - 87933035 |
乳房 | 癌 | 替换-错义 |
c.758T >;p.I253N;10:87957976 - 87957976 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_III | 替换-错义 |
c.431A > C;p.K144T;10:87933190 - 87933190 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.247_248insT;p.C83fs * 9;10:87931083 - 87931084 |
肝 | 癌;hepatocellular_carcinoma | 插入——转移 |
c.71A > G;p.D24G;10:87864540 - 87864540 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.843_850delAGGACCAG;p.P281fs * 14;10:87960935 - 87960942 |
皮肤 | malignant_melanoma | 删除——转移 |
c.893A > G;p.Q298R;10:87960985 - 87960985 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.530_534delATTAT;p.Y177fs * 1;10:87952155 - 87952159 |
子宫内膜 | 癌;腺癌 | 删除——转移 |
c.170T > G;p.L57W;10:87925518 - 87925518 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.276C > G;p.D92E;10:87933035 - 87933035 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.758T >;p.I253N;10:87957976 - 87957976 |
皮肤 | malignant_melanoma | 替换-错义 |
c.493_631del139;p.G165fs * 9;10:87952118 - 87952259 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 删除——转移 |
c.1007A > T;p.Y336F;10:87961099 - 87961099 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.71A > G;p.D24G;10:87864540 - 87864540 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.530A > G;p.Y177C;10:87952155 - 87952155 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |