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

93492年

的名字

TPTE2

同义的

跨膜磷酸肌醇3-phosphatase和tensin同族体2,TPTE2;跨膜磷酸肌醇3-phosphatase和tensin同族体2

定义

PTEN-like肌醇脂质磷酸酶| TPIP脂质磷酸酶| TPTE和PTEN同源肌醇脂质磷酸酶|脂质磷酸酶TPIP |磷脂酰肌醇3、4,5-trisphosphate 3-phosphatase TPTE2 | phosphatidylinositol-3, 4, 5-trisphosphate 3-phosphatase TPTE

位置

13 q12.11

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0.10。

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.1232A > G;p.N411S;13:19424950 - 19424950

 肝 癌 替换-错义

c.1232A > G;p.N411S;13:19424950 - 19424950

 肝 癌 替换-错义

c.1120G > C;p.G374R;13:19426469 - 19426469

 肺 癌;squamous_cell_carcinoma 替换-错义

c.1075T > C;p.L359L;13:19426514 - 19426514

 皮肤 malignant_melanoma 替换-编码沉默

c.899G > C;p.G300A;13:19432565 - 19432565

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.743-2A > G;p。?。13:19438155 - 19438155

 肺 癌;squamous_cell_carcinoma 未知的

c.98T > G;p.L33R;13:19492871 - 19492871

 胰腺 其他;腺瘤 替换-错义

c.98T > G;p.L33R;13:19492871 - 19492871

 large_intestine 癌;腺癌 替换-错义

c.98T > G;p.L33R;13:19492871 - 19492871

 胰腺 癌 替换-错义

c.214C > T;p.R72C;13:19473981 - 19473981

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.98T > G;p.L33R;13:19492871 - 19492871

 前列腺癌 癌;腺癌 替换-错义

c.98T > G;p.L33R;13:19492871 - 19492871

 前列腺癌 癌;腺癌 替换-错义

c.98T > G;p.L33R;13:19492871 - 19492871

 前列腺癌 癌;腺癌 替换-错义

c.98T > G;p.L33R;13:19492871 - 19492871

 胰腺 癌 替换-错义

c.578G > T;p.R193I;13:19450338 - 19450338

 large_intestine;结肠 癌;腺癌 替换-错义

c.98T > G;p.L33R;13:19492871 - 19492871

 adrenal_gland;adrenal_gland adrenal_cortical_adenoma;aldosterone_producing 替换-错义

c.919C > T;p.H307Y;13:19432545 - 19432545

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.353G > C;p.R118T;13:19465493 - 19465493

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.774T > C;p.L258L;13:19438122 - 19438122

 前列腺癌 癌 替换-编码沉默

c.152T > C;p.V51A;13:19474043 - 19474043

 large_intestine;结肠 癌;腺癌 替换-错义

c.878C >;p.P293H;13:19436233 - 19436233

 autonomic_ganglia 神经母细胞瘤 替换-错义

c.25G >;p.E9K;13:19493488 - 19493488

 皮肤 malignant_melanoma 替换-错义

c.25G >;p.E9K;13:19493488 - 19493488

 皮肤 malignant_melanoma 替换-错义

c.25G >;p.E9K;13:19493488 - 19493488

 皮肤 malignant_melanoma 替换-错义

c.542G >;p.R181Q;13:19451194 - 19451194

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.42C > T;p.T14T;13:19493471 - 19493471

 前列腺癌 癌;腺癌 替换-编码沉默

c.542G >;p.R181Q;13:19451194 - 19451194

 large_intestine;直肠 癌;腺癌 替换-错义

c.715G >;p.V239I;13:19450103 - 19450103

 large_intestine;结肠 癌;腺癌 替换-错义

c.542G >;p.R181Q;13:19451194 - 19451194

 large_intestine;盲肠 癌;腺癌 替换-错义

c.542G >;p.R181Q;13:19451194 - 19451194

 large_intestine;直肠 癌;腺癌 替换-错义

c.542G >;p.R181Q;13:19451194 - 19451194

 皮肤 malignant_melanoma 替换-错义

c.542G >;p.R181Q;13:19451194 - 19451194

 皮肤 malignant_melanoma 替换-错义

c.488C > T;p.S163F;13:19464478 - 19464478

 large_intestine;结肠 癌;腺癌 替换-错义

c.617G > T;p.R206I;13:19450299 - 19450299

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1332G > T;p.E444D;13:19423068 - 19423068

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.554G > T;p.R185L;13:19451182 - 19451182

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.578G >;p.R193K;13:19450338 - 19450338

 皮肤 malignant_melanoma 替换-错义

c.121A > C;p.I41L;13:19474074 - 19474074

 乳房 癌 替换-错义

c.121A > C;p.I41L;13:19474074 - 19474074

 前列腺癌 癌;腺癌 替换-错义

c.564T >;p.N188K;13:19451172 - 19451172

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.1072-1G > T;p。?。13:19426518 - 19426518

 large_intestine;直肠 癌;腺癌 未知的

c.488C > G;p.S163C;13:19464478 - 19464478

 肺 癌;squamous_cell_carcinoma 替换-错义

c.1058T >;p.L353 *;13:19430481 - 19430481

 autonomic_ganglia 神经母细胞瘤 替换-胡说

c.169G >;p.D57N;13:19474026 - 19474026

 皮肤 malignant_melanoma 替换-错义

c.169G >;p.D57N;13:19474026 - 19474026

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1119C > T;p.D373D;13:19426470 - 19426470

 食管 癌;腺癌 替换-编码沉默

c.640G > T;p.V214F;13:19450276 - 19450276

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.135C > T;p.F45F;13:19474060 - 19474060

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.231T > C;p.A77A;13:19473964 - 19473964

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.231T > C;p.A77A;13:19473964 - 19473964

 urinary_tract;膀胱 癌 替换-编码沉默

c.846_847CC TT >;p.H283Y;13:19436264 - 19436265

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.240A > T;p.L80F;13:19473955 - 19473955

 肝 癌 替换-错义

c.1247C >;p.P416Q;13:19423153 - 19423153

 胰腺 癌 替换-错义

c.240A > T;p.L80F;13:19473955 - 19473955

 肝 癌 替换-错义

c.1215G > C;p.T405T;13:19424967 - 19424967

 胃 癌;腺癌 替换-编码沉默

c.412G >;p.D138N;13:19465288 - 19465288

 皮肤 malignant_melanoma 替换-错义

c.606T > C;p.N202N;13:19450310 - 19450310

 肺 癌;small_cell_carcinoma 替换-编码沉默

c.871G >;p.E291K;13:19436240 - 19436240

 皮肤 malignant_melanoma 替换-错义

c.672C > G;p.T224T;13:19450146 - 19450146

 肺 癌;腺癌 替换-编码沉默

c.67C > T;p.P23S;13:19492902 - 19492902

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

c.67C > T;p.P23S;13:19492902 - 19492902

 肺 癌;squamous_cell_carcinoma 替换-错义

c.215G >;p.R72H;13:19473980 - 19473980

 乳房 癌 替换-错义

c.120-1G > T;p。?。13:19474076 - 19474076

 子宫内膜 癌;endometrioid_carcinoma 未知的

c.1028A > C;p.E343A;13:19430511 - 19430511

 食道;lower_third 癌;腺癌 替换-错义

c.502C > T;p.P168S;13:19464464 - 19464464

 皮肤 malignant_melanoma 替换-错义

c.521G >;p.R174Q;13:19451215 - 19451215

 胃 癌;腺癌 替换-错义

c.451A > G;p.I151V;13:19464515 - 19464515

 肺 癌;腺癌 替换-错义

c.1244T >;p.L415Q;13:19423156 - 19423156

 皮肤 malignant_melanoma 替换-错义

c.104C >;p.S35 *;13:19492865 - 19492865

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-胡说

c.138G > C;p.L46L;13:19474057 - 19474057

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.439G >;p.V147I;13:19465261 - 19465261

 central_nervous_system;大脑 神经胶质瘤 替换-错义

c.401G >;p.R134Q;13:19465299 - 19465299

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

c.401G >;p.R134Q;13:19465299 - 19465299

 NS malignant_melanoma 替换-错义

c.1330G >;p.E444K;13:19423070 - 19423070

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1330G >;p.E444K;13:19423070 - 19423070

 皮肤 malignant_melanoma 替换-错义

c.1164 + 1 g >;p。?。13:19426424 - 19426424

 皮肤;树干 malignant_melanoma 未知的

c.157C > T;p.L53F;13:19474038 - 19474038

 皮肤 malignant_melanoma 替换-错义

c.1152G >;p.Q384Q;13:19426437 - 19426437

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-编码沉默

c.503C >;p.P168Q;13:19464463 - 19464463

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1211A > G;p.N404S;13:19424971 - 19424971

 肺 癌;squamous_cell_carcinoma 替换-错义

c.1250G >;p.R417K;13:19423150 - 19423150

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.160C > G;p.L54V;13:19474035 - 19474035

 前列腺癌 癌;腺癌 替换-错义

c.1035G > T;p.K345N;13:19430504 - 19430504

 甲状腺 癌 替换-错义

c.265C > G;p.R89G;13:19473930 - 19473930

 urinary_tract;膀胱 癌 替换-错义

c.160C > T;p.L54F;13:19474035 - 19474035

 皮肤 malignant_melanoma 替换-错义

c.1293T > G;p.I431M;13:19423107 - 19423107

 胃 癌;腺癌 替换-错义

c.423C > T;p.D141D;13:19465277 - 19465277

 皮肤 malignant_melanoma 替换-编码沉默

c.423C > T;p.D141D;13:19465277 - 19465277

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.950G >;p.R317Q;13:19432514 - 19432514

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.950G >;p.R317Q;13:19432514 - 19432514

 骨 Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 替换-错义

c.115A > G;p.K39E;13:19492854 - 19492854

 前列腺癌 癌;腺癌 替换-错义

c.115A > G;p.K39E;13:19492854 - 19492854

 前列腺癌 癌;腺癌 替换-错义

c.1026G >;p.M342I;13:19430513 - 19430513

 皮肤 malignant_melanoma 替换-错义

c.115A > G;p.K39E;13:19492854 - 19492854

 NS malignant_melanoma 替换-错义

c.1026G >;p.M342I;13:19430513 - 19430513

 皮肤 malignant_melanoma 替换-错义

c.1255G >;p.E419K;13:19423145 - 19423145

 皮肤 malignant_melanoma 替换-错义

c.1255G >;p.E419K;13:19423145 - 19423145

 皮肤 malignant_melanoma 替换-错义

c.746G >;p.R249K;13:19438150 - 19438150

 皮肤 malignant_melanoma 替换-错义

c.533A > G;p.K178R;13:19451203 - 19451203

 central_nervous_system;大脑 神经胶质瘤 替换-错义

c.553C > T;p.R185 *;13:19451183 - 19451183

 皮肤 malignant_melanoma 替换-胡说

c.76A > G;p.S26G;13:19492893 - 19492893

 皮肤;肢体 malignant_melanoma 替换-错义

c.76A > G;p.S26G;13:19492893 - 19492893

 皮肤;肢体 malignant_melanoma 替换-错义

c.880_882delTCT;p.S294delS;13:19436229 - 19436231

 胃 癌;腺癌 删除——在坐标系

c.76A > G;p.S26G;13:19492893 - 19492893

 皮肤;肢体 malignant_melanoma 替换-错义

c.76A > G;p.S26G;13:19492893 - 19492893

 皮肤;树干 malignant_melanoma 替换-错义

c.542G > T;p.R181L;13:19451194 - 19451194

 肺 癌;腺癌 替换-错义

c.608G > T;p.R203M;13:19450308 - 19450308

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.707A > T;p.E236V;13:19450111 - 19450111

 皮肤 malignant_melanoma 替换-错义

c.1303G > T;p.E435 *;13:19423097 - 19423097

 large_intestine;结肠 癌;腺癌 替换-胡说

c.799G > T;p.A267S;13:19438097 - 19438097

 肺 癌;腺癌 替换-错义

c.479G >;p.G160E;13:19464487 - 19464487

 皮肤 malignant_melanoma 替换-错义

c.512A > T;p.E171V;13:19451224 - 19451224

 large_intestine;直肠 癌;腺癌 替换-错义

c.415G >;p.G139R;13:19465285 - 19465285

 皮肤 malignant_melanoma 替换-错义

c.886-1G > T;p。?。13:19432579 - 19432579

 子宫内膜 癌;endometrioid_carcinoma 未知的

c.1250G > T;p.R417I;13:19423150 - 19423150

 乳房 癌 替换-错义

c.298C > T;p.R100 *;13:19465548 - 19465548

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

c.298C > T;p.R100 *;13:19465548 - 19465548

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

c.298C > T;p.R100 *;13:19465548 - 19465548

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

c.742G >;p.G248R;13:19450076 - 19450076

 皮肤 malignant_melanoma 替换-错义

c.298C > T;p.R100 *;13:19465548 - 19465548

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

c.298C > T;p.R100 *;13:19465548 - 19465548

 urinary_tract;膀胱 癌 替换-胡说

c.1300C > T;p.P434S;13:19423100 - 19423100

 皮肤 malignant_melanoma 替换-错义

c.1081G > T;p.D361Y;13:19426508 - 19426508

 large_intestine;结肠 癌;腺癌 替换-错义

c.772C > T;p.L258F;13:19438124 - 19438124

 皮肤 malignant_melanoma 替换-错义

c.141C > T;p.V47V;13:19474054 - 19474054

 皮肤 malignant_melanoma 替换-编码沉默

c.939C > T;p.L313L;13:19432525 - 19432525

 皮肤 malignant_melanoma 替换-编码沉默

c.801C > T;p.A267A;13:19438095 - 19438095

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.965A > T;p.K322I;13:19432499 - 19432499

 large_intestine 癌;腺癌 替换-错义

c.888T > G;p.N296K;13:19432576 - 19432576

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.965A > T;p.K322I;13:19432499 - 19432499

 large_intestine 癌;腺癌 替换-错义

c.965A > T;p.K322I;13:19432499 - 19432499

 前列腺癌 癌;腺癌 替换-错义

c.924C > G;p.L308L;13:19432540 - 19432540

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-编码沉默

c.924C > G;p.L308L;13:19432540 - 19432540

 甲状腺 其他;肿瘤 替换-编码沉默

c.924C > G;p.L308L;13:19432540 - 19432540

 甲状腺 其他;肿瘤 替换-编码沉默

c.1160C > T;p.S387F;13:19426429 - 19426429

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.924C > G;p.L308L;13:19432540 - 19432540

 biliary_tract;胆囊 癌;腺癌 替换-编码沉默

c.720G >;p.A240A;13:19450098 - 19450098

 皮肤 malignant_melanoma 替换-编码沉默

c.720G >;p.A240A;13:19450098 - 19450098

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.411G > T;p.R137S;13:19465289 - 19465289

 large_intestine;结肠 癌;腺癌 替换-错义

c.552T > C;p.Y184Y;13:19451184 - 19451184

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.11G > T;p.S4I;13:19503224 - 19503224

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1193C >;p.P398Q;13:19424989 - 19424989

 食道;lower_third 癌;腺癌 替换-错义

c.386C > T;p.S129L;13:19465314 - 19465314

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1330G > C;p.E444Q;13:19423070 - 19423070

 肺 癌;腺癌 替换-错义

c.983C > T;p.S328L;13:19432481 - 19432481

 前列腺癌 癌;腺癌 替换-错义

c.983C > T;p.S328L;13:19432481 - 19432481

 皮肤 malignant_melanoma 替换-错义

c.937C > G;p.L313V;13:19432527 - 19432527

 urinary_tract;膀胱 癌 替换-错义

c.236G > C;p.G79A;13:19473959 - 19473959

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.236G > C;p.G79A;13:19473959 - 19473959

 urinary_tract;膀胱 癌 替换-错义

c.600C > T;p.F200F;13:19450316 - 19450316

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.211T >;p.Y71N;13:19473984 - 19473984

 肺 癌;squamous_cell_carcinoma 替换-错义

c.774T > G;p.L258L;13:19438122 - 19438122

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.1024A > T;p.M342L;13:19430515 - 19430515

 卵巢 癌;serous_carcinoma 替换-错义

c.548A > C;p.H183P;13:19451188 - 19451188

 胰腺 癌;ductal_carcinoma 替换-错义

c.783C > T;p.S261S;13:19438113 - 19438113

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.548A > C;p.H183P;13:19451188 - 19451188

 胰腺 癌 替换-错义

c.949C > T;p.R317W;13:19432515 - 19432515

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.714C > T;p.I238I;13:19450104 - 19450104

 皮肤 malignant_melanoma 替换-编码沉默

c.1238T > C;p.L413P;13:19423162 - 19423162

 肺 癌;squamous_cell_carcinoma 替换-错义

c.281G >;p.G94E;13:19473914 - 19473914

 皮肤 malignant_melanoma 替换-错义

c.886-1G > C;p。?。13:19432579 - 19432579

 前列腺癌 癌;腺癌 未知的

c.886-1G > C;p。?。13:19432579 - 19432579

 乳房 癌 未知的

c.886-1G > C;p。?。13:19432579 - 19432579

 子宫内膜 癌;endometrioid_carcinoma 未知的

c.1158C > T;p.F386F;13:19426431 - 19426431

 皮肤 malignant_melanoma 替换-编码沉默

c.299G >;p.R100Q;13:19465547 - 19465547

 乳房 癌 替换-错义

c.1163C > T;p.S388L;13:19426426 - 19426426

 皮肤 malignant_melanoma 替换-错义

c.65 + 1 g > T;p。?。13:19493447 - 19493447

 肺 癌;small_cell_carcinoma 未知的

c.180C > T;p.F60F;13:19474015 - 19474015

 皮肤 malignant_melanoma 替换-编码沉默

c.299G >;p.R100Q;13:19465547 - 19465547

 large_intestine;结肠 癌;腺癌 替换-错义

c.668T > C;p.F223S;13:19450150 - 19450150

 前列腺癌 癌;腺癌 替换-错义

c.830G >;p.R277K;13:19436281 - 19436281

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1131G > C;p.L377L;13:19426458 - 19426458

 biliary_tract;胆囊 癌;腺癌 替换-编码沉默

c.265C > T;p.R89 *;13:19473930 - 19473930

 皮肤 malignant_melanoma 替换-胡说

c.265C > T;p.R89 *;13:19473930 - 19473930

 皮肤 malignant_melanoma 替换-胡说

c.265C > T;p.R89 *;13:19473930 - 19473930

 皮肤 malignant_melanoma 替换-胡说

c.784G >;p.E262K;13:19438112 - 19438112

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.784G >;p.E262K;13:19438112 - 19438112

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_therapy_related 替换-错义

c.784G >;p.E262K;13:19438112 - 19438112

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.784G >;p.E262K;13:19438112 - 19438112

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.784G >;p.E262K;13:19438112 - 19438112

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.784G >;p.E262K;13:19438112 - 19438112

 肺 癌;squamous_cell_carcinoma 替换-错义

c.784G >;p.E262K;13:19438112 - 19438112

 皮肤 malignant_melanoma 替换-错义

c.784G >;p.E262K;13:19438112 - 19438112

 皮肤 malignant_melanoma 替换-错义

c.784G >;p.E262K;13:19438112 - 19438112

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.784G >;p.E262K;13:19438112 - 19438112

 皮肤;手臂 malignant_melanoma 替换-错义

c.503C > T;p.P168L;13:19464463 - 19464463

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.984G >;p.S328S;13:19432480 - 19432480

 乳房 癌 替换-编码沉默

c.984G >;p.S328S;13:19432480 - 19432480

 乳房 癌 替换-编码沉默

c.554G >;p.R185Q;13:19451182 - 19451182

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.728G >;p.C243Y;13:19450090 - 19450090

 large_intestine;结肠 癌;腺癌 替换-错义

c.984G >;p.S328S;13:19432480 - 19432480

 前列腺癌 癌;腺癌 替换-编码沉默

c.984G >;p.S328S;13:19432480 - 19432480

 肺 癌;small_cell_carcinoma 替换-编码沉默

c.308G >;p.R103Q;13:19465538 - 19465538

 乳房 癌 替换-错义

c.308G >;p.R103Q;13:19465538 - 19465538

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

c.410G >;p.R137K;13:19465290 - 19465290

 皮肤 malignant_melanoma 替换-错义

c.1160C >;p.S387Y;13:19426429 - 19426429

 甲状腺 癌 替换-错义

c.326G > T;p.R109I;13:19465520 - 19465520

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.326G > T;p.R109I;13:19465520 - 19465520

 large_intestine;结肠 癌;腺癌 替换-错义

c.579A > C;p.R193S;13:19450337 - 19450337

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.307C > T;p.R103 *;13:19465539 - 19465539

 胰腺 癌 替换-胡说

c.1165-1G > T;p。?。13:19425018 - 19425018

 子宫内膜 癌;endometrioid_carcinoma 未知的

c.1235G >;p.R412K;13:19424947 - 19424947

 皮肤 malignant_melanoma 替换-错义

c.307C > T;p.R103 *;13:19465539 - 19465539

 large_intestine;结肠 癌;腺癌 替换-胡说

c.307C > T;p.R103 *;13:19465539 - 19465539

 large_intestine;直肠 癌;腺癌 替换-胡说

c.307C > T;p.R103 *;13:19465539 - 19465539

 前列腺癌 癌 替换-胡说

c.586G > T;p.D196Y;13:19450330 - 19450330

 肺 癌;腺癌 替换-错义

c.1115A > T;p.Y372F;13:19426474 - 19426474

 食道;middle_third 癌;squamous_cell_carcinoma 替换-错义

c.43G >;p.E15K;13:19493470 - 19493470

 large_intestine;结肠 癌;腺癌 替换-错义

c.193C > T;p.L65F;13:19474002 - 19474002

 皮肤 malignant_melanoma 替换-错义

c.88G >;p.G30R;13:19492881 - 19492881

 皮肤 malignant_melanoma 替换-错义

c.750C > T;p.T250T;13:19438146 - 19438146

 胰腺 癌 替换-编码沉默

c.57G >;p.A19A;13:19493456 - 19493456

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.57G >;p.A19A;13:19493456 - 19493456

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.57G >;p.A19A;13:19493456 - 19493456

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.643C >;p.P215T;13:19450273 - 19450273

 肺 癌;squamous_cell_carcinoma 替换-错义

c.57G >;p.A19A;13:19493456 - 19493456

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.1194A > C;p.P398P;13:19424988 - 19424988

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.733G >;p.G245R;13:19450085 - 19450085

 皮肤 malignant_melanoma 替换-错义

c.586G >;p.D196N;13:19450330 - 19450330

 皮肤 malignant_melanoma 替换-错义

c.449G > T;p.R150L;13:19464517 - 19464517

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.1093_1096delGACA;p.D365fs * 3;13:19426493 - 19426496

 large_intestine;盲肠 癌;腺癌 删除——转移

c.661G >;p.V221M;13:19450157 - 19450157

 皮肤 malignant_melanoma 替换-错义

c.1061G >;p.G354E;13:19430478 - 19430478

 皮肤 malignant_melanoma 替换-错义

c.1093G >;p.D365N;13:19426496 - 19426496

 胃 癌;腺癌 替换-错义

c.114T >;p.S38R;13:19492855 - 19492855

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

c.334C > T;p.H112Y;13:19465512 - 19465512

 皮肤;脚踝 malignant_melanoma;acral_lentiginous 替换-错义

c.326G >;p.R109K;13:19465520 - 19465520

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.334C > T;p.H112Y;13:19465512 - 19465512

 皮肤 malignant_melanoma 替换-错义

c.114T >;p.S38R;13:19492855 - 19492855

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

c.334C > T;p.H112Y;13:19465512 - 19465512

 皮肤 malignant_melanoma 替换-错义

c.294A > T;p.L98F;13:19465552 - 19465552

 large_intestine;直肠 癌;腺癌 替换-错义

c.1179C > G;p.Y393 *;13:19425003 - 19425003

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-胡说

c.1120G >;p.G374S;13:19426469 - 19426469

 前列腺癌 癌;腺癌 替换-错义

c.740A > C;p.K247T;13:19450078 - 19450078

 食管 癌;腺癌 替换-错义

c.1290A > C;p.K430N;13:19423110 - 19423110

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.988C > T;p.R330C;13:19432476 - 19432476

 皮肤 malignant_melanoma 替换-错义

c.942T > C;p.P314P;13:19432522 - 19432522

 皮肤 malignant_melanoma 替换-编码沉默

c.24C > T;p.N8N;13:19493489 - 19493489

 食管 癌 替换-编码沉默

c.824G >;p.G275E;13:19436287 - 19436287

 皮肤 malignant_melanoma 替换-错义

c.24C > T;p.N8N;13:19493489 - 19493489

 胰腺 癌 替换-编码沉默

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