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

57863年

的名字

CADM3

同义的

细胞粘附分子3;CADM3;细胞粘附分子3

定义

大脑TSLC1-like 1 | 1 | TSLC1-like蛋白免疫球蛋白受体|树突细胞nectin-like蛋白质1短同种型| 4 b |免疫球蛋白超科免疫球蛋白超家族成员,成员4 b | nectin-like 1 | 1 |突触细胞粘附molecu nectin-like蛋白质

位置

1 q21.2-q22

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0.09。

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.717G >;p.A239A;1:159193964 - 159193964

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.717G >;p.A239A;1:159193964 - 159193964

 皮肤 malignant_melanoma 替换-编码沉默

c.928C >;p.L310M;1:159196934 - 159196934

 肺 癌;腺癌 替换-错义

c.1099A > G;p.I367V;1:159199795 - 159199795

 large_intestine;结肠 癌;腺癌 替换-错义

c.885-6C >;p。?。1:159196885 - 159196885

 食管 癌;腺癌 未知的

c.375C > T;p.H125H;1:159192621 - 159192621

 large_intestine 癌;腺癌 替换-编码沉默

c.484G > C;p.G162R;1:159192730 - 159192730

 前列腺癌 腺瘤 替换-错义

c.666C > T;p.F222F;1:159193913 - 159193913

 皮肤 malignant_melanoma 替换-编码沉默

c.368C > T;p.T123M;1:159192614 - 159192614

 large_intestine;结肠 癌;腺癌 替换-错义

c.368C > T;p.T123M;1:159192614 - 159192614

 皮肤;树干 malignant_melanoma 替换-错义

c.680C > T;p.S227L;1:159193927 - 159193927

 皮肤 malignant_melanoma 替换-错义

c.680C > T;p.S227L;1:159193927 - 159193927

 皮肤 malignant_melanoma 替换-错义

c.680C > T;p.S227L;1:159193927 - 159193927

 large_intestine;直肠 癌;腺癌 替换-错义

c.1140C > G;p.I380M;1:159199836 - 159199836

 autonomic_ganglia 神经母细胞瘤 替换-错义

c.515A > G;p.Y172C;1:159193453 - 159193453

 central_nervous_system;大脑 primitive_neuroectodermal_tumour-medulloblastoma 替换-错义

c.92A > G;p.Y31C;1:159189774 - 159189774

 胰腺 癌;acinar_carcinoma 替换-错义

c.67G >;p.G23R;1:159171832 - 159171832

 large_intestine;结肠 癌;腺癌 替换-错义

c.894G > T;p.Q298H;1:159196900 - 159196900

 肺 癌;腺癌 替换-错义

c.327G >;p.K109K;1:159192072 - 159192072

 urinary_tract;膀胱 癌 替换-编码沉默

c.226G > T;p.A76S;1:159191971 - 159191971

 肺 癌;腺癌 替换-错义

c.1051A > C;p.N351H;1:159197057 - 159197057

 large_intestine;盲肠 癌;腺癌 替换-错义

c.347G >;p.R116Q;1:159192593 - 159192593

 皮肤 malignant_melanoma 替换-错义

c.347G >;p.R116Q;1:159192593 - 159192593

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.418G >;p.G140S;1:159192664 - 159192664

 胰腺 癌 替换-错义

c.1257C > T;p.G419G;1:159200880 - 159200880

 乳房 癌 替换-编码沉默

c.347G >;p.R116Q;1:159192593 - 159192593

 皮肤 malignant_melanoma 替换-错义

c.1161C >;p.H387Q;1:159199857 - 159199857

 卵巢 癌;serous_carcinoma 替换-错义

c.1257C > T;p.G419G;1:159200880 - 159200880

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.661A > G;p.T221A;1:159193908 - 159193908

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.547A > T;p.T183S;1:159193485 - 159193485

 肺;right_lower_lobe 癌;腺癌 替换-错义

c.586C >;p.R196R;1:159193524 - 159193524

 前列腺癌 癌;腺癌 替换-编码沉默

c.719G >;p.S240N;1:159193966 - 159193966

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.472G >;p.V158I;1:159192718 - 159192718

 胃 癌;腺癌 替换-错义

c.1065G > T;p.P355P;1:159199761 - 159199761

 肺 癌;腺癌 替换-编码沉默

c.1276G >;p.D426N;1:159200899 - 159200899

 皮肤 malignant_melanoma 替换-错义

c.876C >;p.G292G;1:159196446 - 159196446

 肺;right_lower_lobe 癌;腺癌 替换-编码沉默

c.158T > C;p.V53A;1:159189840 - 159189840

 large_intestine;结肠 癌;腺癌 替换-错义

c.499C > T;p.P167S;1:159193437 - 159193437

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1092C > G;p.H364Q;1:159199788 - 159199788

 胃 癌;腺癌 替换-错义

c.1270G > T;p.G424W;1:159200893 - 159200893

 large_intestine;盲肠 癌;腺癌 替换-错义

c.454C > T;p.R152 *;1:159192700 - 159192700

 肝 癌 替换-胡说

c.454C > T;p.R152 *;1:159192700 - 159192700

 肝 癌 替换-胡说

c.15C > T;p.A5A;1:159171780 - 159171780

 皮肤 malignant_melanoma 替换-编码沉默

c.1271G >;p.G424E;1:159200894 - 159200894

 皮肤 malignant_melanoma 替换-错义

c.824C >;p.P275H;1:159196394 - 159196394

 large_intestine;结肠 癌;腺癌 替换-错义

c.100G >;p.E34K;1:159189782 - 159189782

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1235C > T;p.T412M;1:159200858 - 159200858

 large_intestine 癌;腺癌 替换-错义

c.1041C >;p.T347T;1:159197047 - 159197047

 肺;right_lower_lobe 癌;腺癌 替换-编码沉默

c.588G > T;p.R196R;1:159193526 - 159193526

 肺 癌;腺癌 替换-编码沉默

c.1299G >;p。* 433 *;1:159200922 - 159200922

 皮肤 malignant_melanoma 替换-编码沉默

c.1275C > T;p.D425D;1:159200898 - 159200898

 食管 癌;腺癌 替换-编码沉默

c.169C > T;p.P57S;1:159189851 - 159189851

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1256G >;p.G419D;1:159200879 - 159200879

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.729C > T;p.C243C;1:159193976 - 159193976

 large_intestine 癌;腺癌 替换-编码沉默

c.701G > T;p.R234L;1:159193948 - 159193948

 肺 癌;腺癌 替换-错义

c.268G >;p.E90K;1:159192013 - 159192013

 皮肤 malignant_melanoma 替换-错义

c.268G >;p.E90K;1:159192013 - 159192013

 皮肤 malignant_melanoma 替换-错义

c.741T >;p.H247Q;1:159193988 - 159193988

 前列腺癌 癌 替换-错义

c.729C > T;p.C243C;1:159193976 - 159193976

 urinary_tract;膀胱 癌;transitional_cell_carcinoma 替换-编码沉默

c.346C > T;p.R116 *;1:159192592 - 159192592

 central_nervous_system;大脑 神经胶质瘤;astrocytoma_Grade_IV 替换-胡说

c.995G >;p.G332D;1:159197001 - 159197001

 皮肤 malignant_melanoma 替换-错义

c.1156G >;p.G386S;1:159199852 - 159199852

 large_intestine;结肠 腺瘤 替换-错义

c.889C > T;p.Q297 *;1:159196895 - 159196895

 urinary_tract;膀胱 癌 替换-胡说

c.1157G >;p.G386D;1:159199853 - 159199853

 肝 癌 替换-错义

c.793 + 5 g > T;p。?。1:159194045 - 159194045

 肝 癌 未知的

c.1101C > T;p.I367I;1:159199797 - 159199797

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.1101C > T;p.I367I;1:159199797 - 159199797

 urinary_tract;膀胱 癌 替换-编码沉默

c.383G >;p.S128N;1:159192629 - 159192629

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.287G > C;p.W96S;1:159192032 - 159192032

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.532G >;p.E178K;1:159193470 - 159193470

 皮肤 malignant_melanoma 替换-错义

c.613G > T;p.E205 *;1:159193551 - 159193551

 large_intestine;直肠 癌;腺癌 替换-胡说

c.1159C >;p.H387N;1:159199855 - 159199855

 large_intestine;结肠 癌;腺癌 替换-错义

c.621C > T;p.H207H;1:159193559 - 159193559

 前列腺癌 癌;腺癌 替换-编码沉默

c.587G >;p.R196Q;1:159193525 - 159193525

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.621C > T;p.H207H;1:159193559 - 159193559

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.799C > T;p.P267S;1:159196369 - 159196369

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.20_21insGCTCCT;p.L14_F15insLL;1:159171785 - 159171786

 large_intestine 癌;腺癌 插入——在坐标系

c.258G >;p.V86V;1:159192003 - 159192003

 urinary_tract;膀胱 癌 替换-编码沉默

c.530G > T;p.R177L;1:159193468 - 159193468

 肺 癌;腺癌 替换-错义

c.767C > T;p.S256F;1:159194014 - 159194014

 皮肤 malignant_melanoma 替换-错义

c.767C > T;p.S256F;1:159194014 - 159194014

 皮肤 malignant_melanoma 替换-错义

c.764G >;p.R255K;1:159194011 - 159194011

 皮肤 malignant_melanoma 替换-错义

c.1113G >;p.V371V;1:159199809 - 159199809

 皮肤 malignant_melanoma 替换-编码沉默

c.884 + 1 g > T;p。?。1:159196455 - 159196455

 肺 癌;small_cell_carcinoma 未知的

c.534A > C;p.E178D;1:159193472 - 159193472

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.656G > T;p.G219V;1:159193903 - 159193903

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.92A > T;p.Y31F;1:159189774 - 159189774

 甲状腺 其他;肿瘤 替换-错义

c.778C > T;p.R260C;1:159194025 - 159194025

 large_intestine 癌;腺癌 替换-错义

c.706G >;p.D236N;1:159193953 - 159193953

 皮肤 malignant_melanoma 替换-错义

c.884 + 5 g > C;p。?。1:159196459 - 159196459

 NS NS 未知的

c.703G >;p.E235K;1:159193950 - 159193950

 urinary_tract;膀胱 癌 替换-错义

c.1285G >;p.E429K;1:159200908 - 159200908

 皮肤 malignant_melanoma 替换-错义

c.703G >;p.E235K;1:159193950 - 159193950

 urinary_tract;膀胱 癌;transitional_cell_carcinoma 替换-错义

c.1284G >;p.K428K;1:159200907 - 159200907

 皮肤 malignant_melanoma 替换-编码沉默

c.135C > T;p.L45L;1:159189817 - 159189817

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.1227C > T;p.D409D;1:159200850 - 159200850

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-编码沉默

c.1227C > T;p.D409D;1:159200850 - 159200850

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.806C > T;p.A269V;1:159196376 - 159196376

 胃 癌;腺癌 替换-错义

c.1213G > C;p.D405H;1:159200836 - 159200836

 肺 癌;squamous_cell_carcinoma 替换-错义

c.543A > C;p.T181T;1:159193481 - 159193481

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.764G > C;p.R255T;1:159194011 - 159194011

 肺 癌;腺癌 替换-错义

c.746C > T;p.S249F;1:159193993 - 159193993

 haematopoietic_and_lymphoid_tissue;腹部 lymphoid_neoplasm;follicular_lymphoma 替换-错义

c.746C > T;p.S249F;1:159193993 - 159193993

 haematopoietic_and_lymphoid_tissue;lymph_node lymphoid_neoplasm;diffuse_large_B_cell_lymphoma 替换-错义

c.903G >;p.W301 *;1:159196909 - 159196909

 皮肤 malignant_melanoma 替换-胡说

c.1248T > C;p.N416N;1:159200871 - 159200871

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.716C > T;p.A239V;1:159193963 - 159193963

 large_intestine;结肠 癌;腺癌 替换-错义

c.716C > T;p.A239V;1:159193963 - 159193963

 乳房 癌 替换-错义

c.885C > G;p.V295V;1:159196891 - 159196891

 urinary_tract;膀胱 癌 替换-编码沉默

c.1003G > T;p.A335S;1:159197009 - 159197009

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1171C > T;p.R391W;1:159199867 - 159199867

 骨;肱骨 其他;成软骨细胞瘤 替换-错义

c.774T >;p.S258S;1:159194021 - 159194021

 肺;left_upper_lobe 癌;腺癌 替换-编码沉默

c.1042C > T;p.L348F;1:159197048 - 159197048

 皮肤 malignant_melanoma 替换-错义

c.1153C >;p.L385I;1:159199849 - 159199849

 胃 癌;intestinal_adenocarcinoma 替换-错义

c.1185C >;p.T395T;1:159200808 - 159200808

 肺 癌;腺癌 替换-编码沉默

c.523T > G;p.S175A;1:159193461 - 159193461

 large_intestine;直肠 癌;腺癌 替换-错义

c.252C > T;p.C84C;1:159191997 - 159191997

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.1059C > T;p.P353P;1:159199755 - 159199755

 皮肤 malignant_melanoma 替换-编码沉默

c.1229C > T;p.A410V;1:159200852 - 159200852

 皮肤 malignant_melanoma 替换-错义

c.912G > C;p.E304D;1:159196918 - 159196918

 皮肤 malignant_melanoma 替换-错义

c.979G >;p.D327N;1:159196985 - 159196985

 皮肤 malignant_melanoma 替换-错义

c.337C > T;p.R113 *;1:159192583 - 159192583

 皮肤 malignant_melanoma 替换-胡说

c.337C > T;p.R113 *;1:159192583 - 159192583

 胃 癌;腺癌 替换-胡说

c.1016T > C;p.M339T;1:159197022 - 159197022

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1222C >;p.P408T;1:159200845 - 159200845

 肺 癌;腺癌 替换-错义

c.1056C >;p.D352E;1:159199752 - 159199752

 soft_tissue;striated_muscle 横纹肌肉瘤;胚 替换-错义

c.929T > C;p.L310P;1:159196935 - 159196935

 large_intestine;结肠 癌;腺癌 替换-错义

c.1172G > T;p.R391L;1:159199868 - 159199868

 large_intestine;盲肠 癌;腺癌 替换-错义

c.455G >;p.R152Q;1:159192701 - 159192701

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.455G >;p.R152Q;1:159192701 - 159192701

 皮肤 malignant_melanoma 替换-错义

c.455G >;p.R152Q;1:159192701 - 159192701

 皮肤;树干 malignant_melanoma;结节性 替换-错义

c.1228G >;p.A410T;1:159200851 - 159200851

 胃 癌;腺癌 替换-错义

c.471C > T;p.L157L;1:159192717 - 159192717

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.471C > T;p.L157L;1:159192717 - 159192717

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.1079C > T;p.S360F;1:159199775 - 159199775

 皮肤 malignant_melanoma 替换-错义

c.710A > G;p.D237G;1:159193957 - 159193957

 胃 癌;腺癌 替换-错义

c.1216G >;p.D406N;1:159200839 - 159200839

 皮肤 malignant_melanoma 替换-错义

c.57G > T;p.W19C;1:159171822 - 159171822

 甲状腺 其他;肿瘤 替换-错义

c.504C >;p.I168I;1:159193442 - 159193442

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.685A > G;p.T229A;1:159193932 - 159193932

 large_intestine;结肠 癌;腺癌 替换-错义

c.1110C > T;p.I370I;1:159199806 - 159199806

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.1110C > T;p.I370I;1:159199806 - 159199806

 肺 癌;腺癌 替换-编码沉默

c.1107G >;p.G369G;1:159199803 - 159199803

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.1110C > T;p.I370I;1:159199806 - 159199806

 皮肤 malignant_melanoma 替换-编码沉默

c.1110C > T;p.I370I;1:159199806 - 159199806

 large_intestine;直肠 癌;腺癌 替换-编码沉默

c.755G >;p.G252E;1:159194002 - 159194002

 large_intestine;结肠 癌;腺癌 替换-错义

c.1041C > T;p.T347T;1:159197047 - 159197047

 皮肤 malignant_melanoma 替换-编码沉默

c.554A > G;p.N185S;1:159193492 - 159193492

 胃 癌;腺癌 替换-错义

c.742G >;p.E248K;1:159193989 - 159193989

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.1106G >;p.G369E;1:159199802 - 159199802

 皮肤;的脸 癌;squamous_cell_carcinoma 替换-错义

c.772T > C;p.S258P;1:159194019 - 159194019

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-错义

c.695T > G;p.V232G;1:159193942 - 159193942

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.640C >;p.Q214K;1:159193887 - 159193887

 前列腺癌 腺瘤 替换-错义

c.415G > T;p.E139 *;1:159192661 - 159192661

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.1213G >;p.D405N;1:159200836 - 159200836

 乳房 癌 替换-错义

c.954G >;p.L318L;1:159196960 - 159196960

 乳房 癌 替换-编码沉默

c.225G >;p.V75V;1:159191970 - 159191970

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-编码沉默

c.842G > C;p.G281A;1:159196412 - 159196412

 肺 癌;small_cell_carcinoma 替换-错义

c.320G >;p.G107E;1:159192065 - 159192065

 large_intestine;结肠 癌;腺癌 替换-错义

c.855G > C;p.L285F;1:159196425 - 159196425

 肺 癌;squamous_cell_carcinoma 替换-错义

c.701G >;p.R234Q;1:159193948 - 159193948

 骨 Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 替换-错义

c.698C > T;p.T233I;1:159193945 - 159193945

 肝 癌 替换-错义

c.670G >;p.V224I;1:159193917 - 159193917

 胃 癌;腺癌 替换-错义

c.698C > T;p.T233I;1:159193945 - 159193945

 肝 癌 替换-错义

c.338G > T;p.R113L;1:159192584 - 159192584

 肺 癌;腺癌 替换-错义

c.389G >;p.S130N;1:159192635 - 159192635

 肺 癌;腺癌 替换-错义

c.190 + 1 g > T;p。?。1:159189873 - 159189873

 子宫内膜 癌;endometrioid_carcinoma 未知的

c.1242C > T;p.I414I;1:159200865 - 159200865

 肺 癌;腺癌 替换-编码沉默

c.817C > T;p.P273S;1:159196387 - 159196387

 large_intestine 癌;腺癌 替换-错义

c.817C > T;p.P273S;1:159196387 - 159196387

 乳房 癌 替换-错义

c.787G >;p.V263I;1:159194034 - 159194034

 皮肤 malignant_melanoma 替换-错义

c.331G >;p.A111T;1:159192076 - 159192076

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.742G > C;p.E248Q;1:159193989 - 159193989

 肺 癌;squamous_cell_carcinoma 替换-错义

c.609C > T;p.D203D;1:159193547 - 159193547

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.941A > C;p.Q314P;1:159196947 - 159196947

 胰腺 癌 替换-错义

c.941A > C;p.Q314P;1:159196947 - 159196947

 胰腺 癌 替换-错义

c.785A > C;p.E262A;1:159194032 - 159194032

 large_intestine;直肠 癌;腺癌 替换-错义

c.648T >;p.D216E;1:159193895 - 159193895

 皮肤 malignant_melanoma 替换-错义

c.835C > T;p.R279C;1:159196405 - 159196405

 肺 癌;squamous_cell_carcinoma 替换-错义

c.835C > T;p.R279C;1:159196405 - 159196405

 皮肤 malignant_melanoma 替换-错义

c.1247A > T;p.N416I;1:159200870 - 159200870

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1211C > T;p.S404F;1:159200834 - 159200834

 肺 癌;squamous_cell_carcinoma 替换-错义

c.1165T > G;p.L389V;1:159199861 - 159199861

 胃 癌;腺癌 替换-错义

c.873C > T;p.R291R;1:159196443 - 159196443

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.1285G > T;p.E429 *;1:159200908 - 159200908

 肾脏 癌;papillary_renal_cell_carcinoma 替换-胡说

c.370C > T;p.P124S;1:159192616 - 159192616

 large_intestine;结肠 癌;腺癌 替换-错义

c.634C > T;p.R212C;1:159193881 - 159193881

 胃 癌;腺癌 替换-错义

c.396C > T;p.S132S;1:159192642 - 159192642

 食管 癌 替换-编码沉默

c.723C > T;p.I241I;1:159193970 - 159193970

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.595T > C;p.W199R;1:159193533 - 159193533

 胃 腺癌 替换-错义

c.573C >;p.S191R;1:159193511 - 159193511

 肺 癌;腺癌 替换-错义

c.1151T > G;p.F384C;1:159199847 - 159199847

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma 替换-错义

c.544G >;p.A182T;1:159193482 - 159193482

 large_intestine;结肠 癌;腺癌 替换-错义

c.511G > T;p.G171C;1:159193449 - 159193449

 肺 癌;腺癌 替换-错义

c.376G >;p.E126K;1:159192622 - 159192622

 large_intestine;结肠 癌;腺癌 替换-错义

c.376G >;p.E126K;1:159192622 - 159192622

 胃 癌;腺癌 替换-错义

c.376G >;p.E126K;1:159192622 - 159192622

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1173G >;p.R391R;1:159199869 - 159199869

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.376G >;p.E126K;1:159192622 - 159192622

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1064_1065insT;p.V356fs * 45;1:159199760 - 159199761

 肺 癌;small_cell_carcinoma 插入——转移

c.1173G >;p.R391R;1:159199869 - 159199869

 central_nervous_system;大脑 primitive_neuroectodermal_tumour-medulloblastoma 替换-编码沉默

c.397A > G;p.N133D;1:159192643 - 159192643

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1173G >;p.R391R;1:159199869 - 159199869

 肾脏 癌;papillary_renal_cell_carcinoma 替换-编码沉默

c.686C > T;p.T229I;1:159193933 - 159193933

 卵巢 癌;serous_carcinoma 替换-错义

c.840G >;p.E280E;1:159196410 - 159196410

 肺;right_upper_lobe 癌;腺癌 替换-编码沉默

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