肺动脉高血压知识库(bioinfom_tsdb)
bioinfom_tsdb
肺动脉高血压知识库
一般信息|文学|表达式|监管|变体|交互

基本信息

基因身份证

841年

的名字

CASP8

同义的

半胱天冬酶8日apoptosis-related半胱氨酸肽酶;CASP8;半胱天冬酶8日apoptosis-related半胱氨酸肽酶

定义

FADD-homologous冰/ CED-3-like蛋白酶| | FADD-like冰像冰一样的凋亡蛋白酶5 | MACH-alpha-1/2/3蛋白质| | MACH-beta-1/2/3/4蛋白质MORT1-associated ced-3同族体|凋亡半胱氨酸蛋白酶|凋亡蛋白酶Mch-5 |半胱天冬酶8日apoptosis-related cystein

位置

2 q33-q34

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
我们使用从合奏BioMart uniprot蛋白质结构数据的数据库。圆的大小显示了相对变异数。

非同义(上)和(底部)同义突变比例对各种癌症

前
非同义突变模式在17个主要的癌症类型。
同义突变模式在17个主要的癌症类型。

损失函数的突变与错义突变

前
损失函数的突变比较错义突变。
丧失突变在错义突变的比例是0.35。

各种癌症的拷贝数变化

前
拷贝数变化的17个主要癌症组: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; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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)

突变(cd;AA;科)

网站

组织学

突变类型

c.1034G > T;p.G345V;2:201284996 - 201284996

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.62_63CC TT >;p.S21F;2:201266548 - 201266549

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1490G > C;p。* 497年代;2:201286593 - 201286593

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 不间断的扩展

c.1490G > C;p。* 497年代;2:201286593 - 201286593

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 不间断的扩展

c.1424A > T;p.N475I;2:201286527 - 201286527

 肺 癌;腺癌 替换-错义

c.734T > C;p.M245T;2:201276849 - 201276849

 large_intestine;结肠 癌;腺癌 替换-错义

c.534G >;p.M178I;2:201272664 - 201272664

 large_intestine 癌;腺癌 替换-错义

c.734T > C;p.M245T;2:201276849 - 201276849

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.166G > T;p.E56 *;2:201266652 - 201266652

 肺 癌;腺癌 替换-胡说

c.185T > C;p.L62P;2:201266671 - 201266671

 large_intestine;结肠 癌;腺癌 替换-错义

c.1431_1432insG;p.K478fs * 19;2:201286534 - 201286535

 large_intestine;结肠 癌;腺癌 插入——转移

c.1280T > C;p.V427A;2:201285242 - 201285242

 large_intestine;结肠 癌;腺癌 替换-错义

c.684T >;p.S228S;2:201274926 - 201274926

 肝 癌 替换-编码沉默

c.876A > G;p.E292E;2:201284838 - 201284838

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.684T >;p.S228S;2:201274926 - 201274926

 肝 癌 替换-编码沉默

c.20T >;p.L7H;2:201266506 - 201266506

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1232C > T;p.P411L;2:201285194 - 201285194

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.1232C > T;p.P411L;2:201285194 - 201285194

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1232C > T;p.P411L;2:201285194 - 201285194

 胃 癌;腺癌 替换-错义

c.1232C > T;p.P411L;2:201285194 - 201285194

 upper_aerodigestive_tract;口 癌 替换-错义

c.606C >;p.S202R;2:201272736 - 201272736

 皮肤 malignant_melanoma 替换-错义

c.660_661insG;p.V222fs * 13;2:201274902 - 201274903

 large_intestine;直肠 癌;腺癌 插入——转移

c.774T >;p.N258K;2:201276889 - 201276889

 胃 癌;腺癌 替换-错义

c.1087_1089delCCT;p.P363delP;2:201285049 - 201285051

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 删除——在坐标系

c.505A > C;p.M169L;2:201271619 - 201271619

 胃 癌;mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable 替换-错义

c.29T > C;p.I10T;2:201266515 - 201266515

 urinary_tract;膀胱 癌 替换-错义

c.678G >;p.S226S;2:201274920 - 201274920

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-编码沉默

c.1220C > T;p.T407M;2:201285182 - 201285182

 乳房 癌 替换-错义

c.678G >;p.S226S;2:201274920 - 201274920

 upper_aerodigestive_tract;口 癌 替换-编码沉默

c.1234G >;p.D412N;2:201285196 - 201285196

 皮肤;树干 malignant_melanoma;结节性 替换-错义

c.1109A > C;p.K370T;2:201285071 - 201285071

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.748C > T;p.R250W;2:201276863 - 201276863

 upper_aerodigestive_tract;口 癌 替换-错义

c.748C > T;p.R250W;2:201276863 - 201276863

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.748C > T;p.R250W;2:201276863 - 201276863

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.211A > T;p.R71 *;2:201266697 - 201266697

 肝 癌 替换-胡说

c.748C > T;p.R250W;2:201276863 - 201276863

 large_intestine 癌;腺癌 替换-错义

c.910T > G;p.C304G;2:201284872 - 201284872

 肝 癌 替换-错义

c.748C > T;p.R250W;2:201276863 - 201276863

 乳房 癌 替换-错义

c.748C > T;p.R250W;2:201276863 - 201276863

 upper_aerodigestive_tract;口 癌 替换-错义

c.442G >;p.E148K;2:201271556 - 201271556

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.573C >;p.I191I;2:201272703 - 201272703

 胃 癌;腺癌 替换-编码沉默

c.1427_1428insG;p.K478fs * 19;2:201286530 - 201286531

 large_intestine;结肠 癌;腺癌 插入——转移

c.1093C > T;p.L365F;2:201285055 - 201285055

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.74T > C;p.L25P;2:201266560 - 201266560

 胃 癌;腺癌 替换-错义

c.1093C > T;p.L365F;2:201285055 - 201285055

 upper_aerodigestive_tract;口 癌 替换-错义

c.1195G > T;p.E399 *;2:201285157 - 201285157

 large_intestine;结肠 癌;腺癌 替换-胡说

c.1195G > T;p.E399 *;2:201285157 - 201285157

 子宫内膜 癌;serous_carcinoma 替换-胡说

c.1195G > T;p.E399 *;2:201285157 - 201285157

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.1020_1023delCTAT;p.I340fs * 13;2:201284982 - 201284985

 胃 癌;mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable 删除——转移

c.1106C >;p.P369H;2:201285068 - 201285068

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.253G > T;p.E85 *;2:201266739 - 201266739

 large_intestine;结肠 癌;腺癌 替换-胡说

c.202C > T;p.R68 *;2:201266688 - 201266688

 乳房 癌 替换-胡说

c.202C > T;p.R68 *;2:201266688 - 201266688

 urinary_tract;膀胱 癌;transitional_cell_carcinoma 替换-胡说

c.948C >;p.Y316 *;2:201284910 - 201284910

 large_intestine;结肠 癌;腺癌 替换-胡说

c.202C > T;p.R68 *;2:201266688 - 201266688

 卵巢 癌;serous_carcinoma 替换-胡说

c.202C > T;p.R68 *;2:201266688 - 201266688

 urinary_tract;膀胱 癌 替换-胡说

c.161T > C;p.L54S;2:201266647 - 201266647

 乳房 癌;basal_ _carcinoma(三阴性) 替换-错义

c.1064C > G;p.S355C;2:201285026 - 201285026

 肺 癌;腺癌 替换-错义

c.1376T > C;p.I459T;2:201286479 - 201286479

 large_intestine;结肠 癌;腺癌 替换-错义

c.32G >;p.G11E;2:201266518 - 201266518

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.758G >;p.C253Y;2:201276873 - 201276873

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.686C > T;p.P229L;2:201274928 - 201274928

 食管 癌;腺癌 替换-错义

c.1381A > C;p.T461P;2:201286484 - 201286484

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.698A > G;p.D233G;2:201274940 - 201274940

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.1003G >;p.G335R;2:201284965 - 201284965

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.547A > G;p.I183V;2:201272677 - 201272677

 乳房 癌 替换-错义

c.588_589delTG;p.A197fs * 14;2:201272718 - 201272719

 胃 癌;diffuse_adenocarcinoma 删除——转移

c.588_589delTG;p.A197fs * 14;2:201272718 - 201272719

 胃 癌;intestinal_adenocarcinoma 删除——转移

c.1311G > C;p.W437C;2:201285273 - 201285273

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1345C > T;p.R449 *;2:201285307 - 201285307

 large_intestine;盲肠 癌;腺癌 替换-胡说

c.1345C > T;p.R449 *;2:201285307 - 201285307

 urinary_tract;膀胱 癌 替换-胡说

c.1175C > T;p.S392L;2:201285137 - 201285137

 large_intestine;结肠 癌;腺癌 替换-错义

c.595A > C;p.I199L;2:201272725 - 201272725

 large_intestine;直肠 癌;腺癌 替换-错义

c.595A > C;p.I199L;2:201272725 - 201272725

 乳房 癌 替换-错义

c.93G >;p.P31P;2:201266579 - 201266579

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.93G >;p.P31P;2:201266579 - 201266579

 乳房 癌 替换-编码沉默

c.1132C > T;p.Q378 *;2:201285094 - 201285094

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-胡说

c.1345C > T;p.R449 *;2:201285307 - 201285307

 large_intestine;结肠 癌;腺癌 替换-胡说

c.1213C > T;p.P405S;2:201285175 - 201285175

 皮肤 malignant_melanoma 替换-错义

c.423_425delAGA;p.E143delE;2:201271537 - 201271539

 子宫内膜 癌;endometrioid_carcinoma 删除——在坐标系

c.1354C > T;p.R452 *;2:201285316 - 201285316

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-胡说

c.1354C > T;p.R452 *;2:201285316 - 201285316

 large_intestine 癌;腺癌 替换-胡说

c.1354C > T;p.R452 *;2:201285316 - 201285316

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-胡说

c.1131T >;p.C377 *;2:201285093 - 201285093

 large_intestine;结肠 癌;腺癌 替换-胡说

c.1354C > T;p.R452 *;2:201285316 - 201285316

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.606C > T;p.S202S;2:201272736 - 201272736

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.1354C > T;p.R452 *;2:201285316 - 201285316

 upper_aerodigestive_tract;口 癌 替换-胡说

c.1354C > T;p.R452 *;2:201285316 - 201285316

 upper_aerodigestive_tract;口 癌 替换-胡说

c.508-1G > T;p。?。2:201272637 - 201272637

 子宫内膜 癌;endometrioid_carcinoma 未知的

c.553G > T;p.G185 *;2:201272683 - 201272683

 胃 癌;intestinal_adenocarcinoma 替换-胡说

c.1330C > T;p.Q444 *;2:201285292 - 201285292

 large_intestine;盲肠 癌;腺癌 替换-胡说

c.580_581delAG;p.R194fs * 17;2:201272710 - 201272711

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 删除——转移

c.480C >;p.I160I;2:201271594 - 201271594

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.203G > T;p.R68L;2:201266689 - 201266689

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.526_527delAT;p.I176fs * 35;2:201272656 - 201272657

 large_intestine;结肠 癌;腺癌 删除——转移

c.757T > G;p.C253G;2:201276872 - 201276872

 large_intestine;结肠 癌;腺癌 替换-错义

c.1043delC;p.I350fs * 4;2:201285005 - 201285005

 食道;lower_third 癌;腺癌 删除——转移

c.1064C > T;p.S355F;2:201285026 - 201285026

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.708_711 + 10 delacaggtagacggaa;p。?。2:201274950 - 201274963

 soft_tissue;blood_vessel 血管肉瘤 未知的

c.773A > G;p.N258S;2:201276888 - 201276888

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.773A > G;p.N258S;2:201276888 - 201276888

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1356-1G > C;p。?。2:201286458 - 201286458

 upper_aerodigestive_tract;咽 癌;squamous_cell_carcinoma 未知的

c.1464delA;p.K490fs * > 7;2:201286567 - 201286567

 large_intestine;结肠 癌;腺癌 删除——转移

c.1464delA;p.K490fs * > 7;2:201286567 - 201286567

 large_intestine;结肠 癌;腺癌 删除——转移

c.1464delA;p.K490fs * > 7;2:201286567 - 201286567

 large_intestine;结肠 癌;腺癌 删除——转移

c.146A > T;p.Q49L;2:201266632 - 201266632

 urinary_tract;膀胱 癌 替换-错义

c.1464delA;p.K490fs * > 7;2:201286567 - 201286567

 large_intestine;结肠 癌;腺癌 删除——转移

c.146A > T;p.Q49L;2:201266632 - 201266632

 urinary_tract;膀胱 癌;transitional_cell_carcinoma 替换-错义

c.581G > T;p.R194I;2:201272711 - 201272711

 large_intestine;结肠 癌;腺癌 替换-错义

c.749G >;p.R250Q;2:201276864 - 201276864

 urinary_tract;膀胱 癌 替换-错义

c.1265C > T;p.T422I;2:201285227 - 201285227

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1352C > T;p.P451L;2:201285314 - 201285314

 卵巢 癌;serous_carcinoma 替换-错义

c.1123C > G;p.Q375E;2:201285085 - 201285085

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.1123C > G;p.Q375E;2:201285085 - 201285085

 upper_aerodigestive_tract;口 癌 替换-错义

c.987C >;p.C329 *;2:201284949 - 201284949

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.1208C > G;p.S403 *;2:201285170 - 201285170

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-胡说

c.14G > T;p.R5I;2:201266500 - 201266500

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1208C > G;p.S403 *;2:201285170 - 201285170

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-胡说

c.618_621delAATC;p.I207fs * 15;2:201272748 - 201272751

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 删除——转移

c.1304G > C;p.G435A;2:201285266 - 201285266

 乳房 癌;basal_ _carcinoma(三阴性) 替换-错义

本月c.1491 + 42 _1491 + 43;p。?。2:201286637 - 201286638

 胃 癌;diffuse_adenocarcinoma 未知的

c.761T > C;p.L254P;2:201276876 - 201276876

 large_intestine;结肠 癌;腺癌 替换-错义

c.184_186delCTG;p.L62delL;2:201266670 - 201266672

 阴户 癌;squamous_cell_carcinoma 删除——在坐标系

c.1136G >;p.G379E;2:201285098 - 201285098

 皮肤 malignant_melanoma 替换-错义

c.904G > C;p.D302H;2:201284866 - 201284866

 large_intestine;结肠 癌;腺癌 替换-错义

c.712-1G >;p。?。2:201276826 - 201276826

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 未知的

c.287C > T;p.A96V;2:201266773 - 201266773

 autonomic_ganglia 神经母细胞瘤 替换-错义

c.646 + 2 t > G;p。?。2:201272778 - 201272778

 肺 癌;腺癌 未知的

c.646 + 1 g >;p。?。2:201272777 - 201272777

 子宫内膜 癌;endometrioid_carcinoma 未知的

c.24T >;p.Y8 *;2:201266510 - 201266510

 large_intestine;结肠 癌;腺癌 替换-胡说

c.749delG;p.G251fs * 4;2:201276864 - 201276864

 large_intestine;结肠 癌;腺癌 删除——转移

c.469C > T;p.Q157 *;2:201271583 - 201271583

 食管 癌;squamous_cell_carcinoma 替换-胡说

c.1303G > T;p.G435 *;2:201285265 - 201285265

 胃 癌;腺癌 替换-胡说

c.415C > T;p.Q139 *;2:201271529 - 201271529

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-胡说

c.222G > T;p.L74F;2:201266708 - 201266708

 soft_tissue;blood_vessel 血管肉瘤 替换-错义

c.1080G >;p.L360L;2:201285042 - 201285042

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.746C >;p.P249H;2:201276861 - 201276861

 large_intestine;结肠 癌;腺癌 替换-错义

c.746C >;p.P249H;2:201276861 - 201276861

 large_intestine 癌;腺癌 替换-错义

c.746C >;p.P249H;2:201276861 - 201276861

 large_intestine 癌;腺癌 替换-错义

c.746C >;p.P249H;2:201276861 - 201276861

 large_intestine;结肠 癌 替换-错义

c.746C >;p.P249H;2:201276861 - 201276861

 large_intestine 癌;腺癌 替换-错义

c.872T > G;p.F291C;2:201284834 - 201284834

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.1216C > T;p.Q406 *;2:201285178 - 201285178

 large_intestine;结肠 癌 替换-胡说

c.998C > T;p.S333F;2:201284960 - 201284960

 乳房 癌 替换-错义

c.1216C > T;p.Q406 *;2:201285178 - 201285178

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-胡说

c.1216C > T;p.Q406 *;2:201285178 - 201285178

 large_intestine;结肠 癌;腺癌 替换-胡说

c.1036C > T;p.Q346 *;2:201284998 - 201284998

 large_intestine;结肠 癌;腺癌 替换-胡说

c.728A > T;p.Y243F;2:201276843 - 201276843

 乳房 癌 替换-错义

c.749_749delG;p.G251fs * 4;2:201276864 - 201276864

 胃 癌;intestinal_adenocarcinoma 删除——转移

c.880C > T;p.L294F;2:201284842 - 201284842

 乳房 癌 替换-错义

c.1033G >;p.G345R;2:201284995 - 201284995

 皮肤 malignant_melanoma 替换-错义

c.998delC;p.H334fs * 20;2:201284960 - 201284960

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 删除——转移

c.1288C > T;p.R430 *;2:201285250 - 201285250

 large_intestine;结肠 癌;腺癌 替换-胡说

c.1288C > T;p.R430 *;2:201285250 - 201285250

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-胡说

c.1288C > T;p.R430 *;2:201285250 - 201285250

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-胡说

c.1288C > T;p.R430 *;2:201285250 - 201285250

 upper_aerodigestive_tract;口 癌 替换-胡说

c.1113_1114insT;p.I374fs * 8;2:201285075 - 201285076

 large_intestine;盲肠 癌;腺癌 插入——转移

c.401 + 1 g >;p。?。2:201269606 - 201269606

 胃 癌;mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable 未知的

c.408G >;p.M136I;2:201271522 - 201271522

 large_intestine;结肠 癌;腺癌 替换-错义

c.1337T >;p.L446Q;2:201285299 - 201285299

 肝 癌 替换-错义

c.1274_1275insT;p.C426fs * 30;2:201285236 - 201285237

 胃 癌;diffuse_adenocarcinoma 插入——转移

c.1444C > T;p.Q482 *;2:201286547 - 201286547

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-胡说

c.1444C > T;p.Q482 *;2:201286547 - 201286547

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-胡说

c.1444C > T;p.Q482 *;2:201286547 - 201286547

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-胡说

c.1444C > T;p.Q482 *;2:201286547 - 201286547

 乳房 癌 替换-胡说

c.1444C > T;p.Q482 *;2:201286547 - 201286547

 upper_aerodigestive_tract;口 癌 替换-胡说

c.1444C > T;p.Q482 *;2:201286547 - 201286547

 upper_aerodigestive_tract;口 癌 替换-胡说

c.1444C > T;p.Q482 *;2:201286547 - 201286547

 肺 癌;squamous_cell_carcinoma 替换-胡说

本月c.853 + 55 _853 + 56;p。?。2:201277023 - 201277024

 胃 癌;intestinal_adenocarcinoma 未知的

c.201C >;p.F67L;2:201266687 - 201266687

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

本月c.853 + 55 _853 + 56;p。?。2:201277023 - 201277024

 胃 癌;diffuse_adenocarcinoma 未知的

c.201C >;p.F67L;2:201266687 - 201266687

 upper_aerodigestive_tract;口 癌 替换-错义

c.281G >;p.G94D;2:201266767 - 201266767

 胃 癌;腺癌 替换-错义

c.83A > G;p.D28G;2:201266569 - 201266569

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.106G > T;p.E36 *;2:201266592 - 201266592

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.83A > G;p.D28G;2:201266569 - 201266569

 upper_aerodigestive_tract;口 癌 替换-错义

c.1191T >;p.Y397 *;2:201285153 - 201285153

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-胡说

c.218A > C;p.D73A;2:201266704 - 201266704

 large_intestine;结肠 癌;腺癌 替换-错义

c.647-1delG;p。?。2:201274888 - 201274888

 皮肤;head_neck 癌;squamous_cell_carcinoma 未知的

c.31G >;p.G11R;2:201266517 - 201266517

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.31G >;p.G11R;2:201266517 - 201266517

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.986G >;p.C329Y;2:201284948 - 201284948

 large_intestine 癌;腺癌 替换-错义

c.8T > G;p.F3C;2:201266494 - 201266494

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;mantle_cell_lymphoma 替换-错义

c.480C > T;p.I160I;2:201271594 - 201271594

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.899C > T;p.P300L;2:201284861 - 201284861

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.537G > C;p.E179D;2:201272667 - 201272667

 肺 癌;腺癌 替换-错义

c.464T > C;p.L155P;2:201271578 - 201271578

 皮肤 malignant_melanoma 替换-错义

c.464T > C;p.L155P;2:201271578 - 201271578

 胃 癌;腺癌 替换-错义

c.282C > T;p.G94G;2:201266768 - 201266768

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.1088C >;p.P363H;2:201285050 - 201285050

 前列腺癌 癌 替换-错义

c.508-2A > G;p。?。2:201272636 - 201272636

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 未知的

c.1278T > C;p.C426C;2:201285240 - 201285240

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.508-2A > G;p。?。2:201272636 - 201272636

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 未知的

c.1276_1277delTG;p.V427fs * 28;2:201285238 - 201285239

 肝 癌;hepatocellular_carcinoma 删除——转移

c.422C > G;p.S141 *;2:201271536 - 201271536

 子宫颈 癌;squamous_cell_carcinoma 替换-胡说

c.1276_1277delTG;p.V427fs * 28;2:201285238 - 201285239

 肝 癌;hepatocellular_carcinoma 删除——转移

c.422C > G;p.S141 *;2:201271536 - 201271536

 肺 癌;squamous_cell_carcinoma 替换-胡说

c.1034G >;p.G345E;2:201284996 - 201284996

 皮肤 malignant_melanoma 替换-错义

c.1066C > T;p.Q356 *;2:201285028 - 201285028

 乳房 癌 替换-胡说

c.1276_1277delTG;p.V427fs * 28;2:201285238 - 201285239

 肝 癌;hepatocellular_carcinoma 删除——转移

c.1276_1277delTG;p.V427fs * 28;2:201285238 - 201285239

 肝 癌;hepatocellular_carcinoma 删除——转移

c.1276_1277delTG;p.V427fs * 28;2:201285238 - 201285239

 肝 癌;hepatocellular_carcinoma 删除——转移

c.1276_1277delTG;p.V427fs * 28;2:201285238 - 201285239

 肝 癌;hepatocellular_carcinoma 删除——转移

c.1276_1277delTG;p.V427fs * 28;2:201285238 - 201285239

 肝 癌;hepatocellular_carcinoma 删除——转移

c.1276_1277delTG;p.V427fs * 28;2:201285238 - 201285239

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 删除——转移

c.1276_1277delTG;p.V427fs * 28;2:201285238 - 201285239

 肝 癌;hepatocellular_carcinoma 删除——转移

c.1276_1277delTG;p.V427fs * 28;2:201285238 - 201285239

 肝 癌;hepatocellular_carcinoma 删除——转移

c.1066C > T;p.Q356 *;2:201285028 - 201285028

 urinary_tract;膀胱 癌 替换-胡说

c.1276_1277delTG;p.V427fs * 28;2:201285238 - 201285239

 肝 癌;hepatocellular_carcinoma 删除——转移

c.1066C > T;p.Q356 *;2:201285028 - 201285028

 乳房 癌 替换-胡说

c.203G >;p.R68Q;2:201266689 - 201266689

 urinary_tract;膀胱 癌;transitional_cell_carcinoma 替换-错义

c.203G >;p.R68Q;2:201266689 - 201266689

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1A > G;p。?。2:201266487 - 201266487

 胃 癌;intestinal_adenocarcinoma 未知的

c.1175C > G;p.S392 *;2:201285137 - 201285137

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-胡说

c.851C > T;p.A284V;2:201276966 - 201276966

 large_intestine;盲肠 癌;腺癌 替换-错义

c.203G >;p.R68Q;2:201266689 - 201266689

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.203G >;p.R68Q;2:201266689 - 201266689

 urinary_tract;膀胱 癌 替换-错义

c.1175C > G;p.S392 *;2:201285137 - 201285137

 肺 癌;squamous_cell_carcinoma 替换-胡说

c.203G >;p.R68Q;2:201266689 - 201266689

 large_intestine 癌;腺癌 替换-错义

c.735G > T;p.M245I;2:201276850 - 201276850

 large_intestine 癌;腺癌 替换-错义

c.735G > T;p.M245I;2:201276850 - 201276850

 large_intestine;结肠 癌;腺癌 替换-错义

c.410T >;p.L137H;2:201271524 - 201271524

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.283A > T;p.R95W;2:201266769 - 201266769

 卵巢 癌;serous_carcinoma 替换-错义

c.13A > G;p.R5G;2:201266499 - 201266499

 胃 癌;腺癌 替换-错义

c.7T > G;p.F3V;2:201266493 - 201266493

 large_intestine;结肠 癌;腺癌 替换-错义

c.587G >;p.C196Y;2:201272717 - 201272717

 胃 癌;diffuse_adenocarcinoma 替换-错义

c.1_2insT;p。?。2:201266487 - 201266488

 胃 癌;intestinal_adenocarcinoma 未知的

c.249_251delGGA;p.E84del;2:201266735 - 201266737

 胃 癌;mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable 删除——在坐标系

c.1186C >;p.P396T;2:201285148 - 201285148

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm 替换-错义

c.1025G >;p.G342D;2:201284987 - 201284987

 子宫颈 癌;squamous_cell_carcinoma 替换-错义

c.433A > C;p.S145R;2:201271547 - 201271547

 胃 癌;腺癌 替换-错义

c.1025G >;p.G342D;2:201284987 - 201284987

 large_intestine;盲肠 癌;腺癌 替换-错义

c.7T > C;p.F3L;2:201266493 - 201266493

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;mantle_cell_lymphoma 替换-错义

c.179C > T;p.S60F;2:201266665 - 201266665

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.528_529delAG;p.E177fs * 34;2:201272658 - 201272659

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 删除——转移

c.122C >;p.A41D;2:201266608 - 201266608

 large_intestine;盲肠 癌;腺癌 替换-错义

c.584T >;p.V195D;2:201272714 - 201272714

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.608T > G;p.L203R;2:201272738 - 201272738

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.1478T > C;p.F493S;2:201286581 - 201286581

 胃 癌;diffuse_adenocarcinoma 替换-错义

c.52G > T;p.D18Y;2:201266538 - 201266538

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.201C > T;p.F67F;2:201266687 - 201266687

 卵巢 其他;肿瘤 替换-编码沉默

c.296C > T;p.S99F;2:201266782 - 201266782

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.677C > T;p.S226L;2:201274919 - 201274919

 卵巢 其他;肿瘤 替换-错义

c.296C > T;p.S99F;2:201266782 - 201266782

 皮肤 malignant_melanoma 替换-错义

c.677C > T;p.S226L;2:201274919 - 201274919

 large_intestine;盲肠 癌;腺癌 替换-错义

c.296C > T;p.S99F;2:201266782 - 201266782

 皮肤 malignant_melanoma 替换-错义

c.265G > T;p.E89 *;2:201266751 - 201266751

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-胡说

c.1080G > C;p.L360F;2:201285042 - 201285042

 乳房 癌;HER-positive_carcinoma 替换-错义

c.929A > G;p.Y310C;2:201284891 - 201284891

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.449G >;p.R150K;2:201271563 - 201271563

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.391C > T;p.L131L;2:201269595 - 201269595

 urinary_tract;膀胱 癌;transitional_cell_carcinoma 替换-编码沉默

c.391C > T;p.L131L;2:201269595 - 201269595

 urinary_tract;膀胱 癌 替换-编码沉默

c.391C > T;p.L131L;2:201269595 - 201269595

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.796G > T;p.E266 *;2:201276911 - 201276911

 乳房 癌 替换-胡说

c.683C > G;p.S228C;2:201274925 - 201274925

 urinary_tract;膀胱 癌 替换-错义

c.155G > T;p.R52I;2:201266641 - 201266641

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1289G >;p.R430Q;2:201285251 - 201285251

 large_intestine;直肠 癌;腺癌 替换-错义

c.1114delT;p.F373fs * 26;2:201285076 - 201285076

 卵巢 癌;serous_carcinoma 删除——转移

c.155G > T;p.R52I;2:201266641 - 201266641

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1114delT;p.F373fs * 26;2:201285076 - 201285076

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 删除——转移

c.453_455delTTT;p.F152delF;2:201271567 - 201271569

 large_intestine 癌;腺癌 删除——在坐标系

c.1440G > C;p.M480I;2:201286543 - 201286543

 胃 癌;腺癌 替换-错义

c.1369C >;p.L457I;2:201286472 - 201286472

 胃 癌;intestinal_adenocarcinoma 替换-错义

c.577_578delAA;p.R194fs * 17;2:201272707 - 201272708

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 删除——转移

c.443A > T;p.E148V;2:201271557 - 201271557

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.1221G >;p.T407T;2:201285183 - 201285183

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.1049T > G;p.I350S;2:201285011 - 201285011

 large_intestine;结肠 癌;腺癌 替换-错义

c.1149G > T;p.Q383H;2:201285111 - 201285111

 large_intestine;直肠 癌;腺癌 替换-错义

c.305G > T;p.R102M;2:201266791 - 201266791

 胰腺 癌 替换-错义

c.305G > T;p.R102M;2:201266791 - 201266791

 胃 癌;腺癌 替换-错义

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