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

861年

的名字

RUNX1

同义的

runt-related转录因子1;RUNX1; runt-related转录因子1

定义

AML1-EVI-1融合蛋白| CBF-alpha-2 | PEA2-alpha B | PEBP2-alpha B | SL3-3增强因子1αB亚基| SL3 / AKV core-binding因子αB亚基|急性骨髓性白血病1蛋白质| core-binding因素,小牛域,α亚基2 |致癌基因AML-1 | polyomav

位置

21 q22.3

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
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0.43。

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.385_386insNNNNN;p.L129fs;21:34880679 - 34880680

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.1036_1037insC;p.R346fs * 137;21:34792541 - 34792542

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.1036_1037insC;p.R346fs * 137;21:34792541 - 34792542

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.547C > G;p.P183A;21:34859540 - 34859540

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.1036_1037insC;p.R346fs * 137;21:34792541 - 34792542

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.1036_1037insC;p.R346fs * 137;21:34792541 - 34792542

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable 插入——转移

c.1036_1037insC;p.R346fs * 137;21:34792541 - 34792542

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.1036_1037insC;p.R346fs * 137;21:34792541 - 34792542

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.941_942delCT;p.S314fs * 168;21:34799326 - 34799327

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 删除——转移

c.367_368insG;p.D123fs * 15;21:34880697 - 34880698

 乳房 癌 插入——转移

c.352-10T >;p。?。21:34880723 - 34880723

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 未知的

c.367_368insG;p.D123fs * 15;21:34880697 - 34880698

 乳房 癌 插入——转移

c.941_942delCT;p.S314fs * 168;21:34799326 - 34799327

 乳房 癌 删除——转移

c.352-10T >;p。?。21:34880723 - 34880723

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_leukaemia_of_ambiguous_lineage_associated_with_MDS 未知的

c.445G >;p.A149T;21:34880620 - 34880620

 large_intestine;结肠 癌;腺癌 替换-错义

c.270_271ins26;p。(R91) fs;21:34886923 - 34886924

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.445G >;p.A149T;21:34880620 - 34880620

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.958C > T;p.R320 *;21:34799310 - 34799310

 large_intestine;直肠 癌;腺癌 替换-胡说

c.595G >;p.G199R;21:34859492 - 34859492

 large_intestine;直肠 癌;腺癌 替换-错义

c.595G >;p.G199R;21:34859492 - 34859492

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.958C > T;p.R320 *;21:34799310 - 34799310

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myeloproliferative_neoplasm 替换-胡说

c.540_541insC;p.T181fs * 32;21:34859546 - 34859547

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 插入——转移

c.958C > T;p.R320 *;21:34799310 - 34799310

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.595G >;p.G199R;21:34859492 - 34859492

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.958C > T;p.R320 *;21:34799310 - 34799310

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.958C > T;p.R320 *;21:34799310 - 34799310

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.958C > T;p.R320 *;21:34799310 - 34799310

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myeloid_leukaemia 替换-胡说

c.958C > T;p.R320 *;21:34799310 - 34799310

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable 替换-胡说

c.1024_1025insGGGC;p.I342fs * 142;21:34792553 - 34792554

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.595G >;p.G199R;21:34859492 - 34859492

 large_intestine;结肠 癌;腺癌 替换-错义

c.958C > T;p.R320 *;21:34799310 - 34799310

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myeloproliferative_neoplasm 替换-胡说

c.958C > T;p.R320 *;21:34799310 - 34799310

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 替换-胡说

c.501_506delTGGAAG;p.S167_G168delSG;21:34880559 - 34880564

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——在坐标系

c.958C > T;p.R320 *;21:34799310 - 34799310

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-胡说

c.755C > T;p.S252F;21:34834460 - 34834460

 皮肤;head_neck malignant_melanoma;superficial_spreading 替换-错义

c.419_420delAC;p.Y140fs * 3;21:34880645 - 34880646

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 删除——转移

c.1256_1266del11;p.V419fs * 60;21:34792312 - 34792322

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 删除——转移

c.968-10C >;p。?。21:34792620 - 34792620

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.380G >;p.G127D;21:34880685 - 34880685

 large_intestine 癌;腺癌 替换-错义

c.416A > G;p.N139S;21:34880649 - 34880649

 乳房 癌 替换-错义

c.352-1insTTTAG;p。?。21:34880713 - 34880714

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.342C >;p.I114I;21:34886852 - 34886852

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_B_cell_leukaemia 替换-编码沉默

c.503_504ins9;p.G168_R169insRSG;21:34880561 - 34880562

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——在坐标系

c.504_505insGAAGTGGA;p.R169fs * 10;21:34880560 - 34880561

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.342C >;p.I114I;21:34886852 - 34886852

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_leukaemia 替换-编码沉默

c.342C >;p.I114I;21:34886852 - 34886852

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-编码沉默

c.447A > G;p.A149A;21:34880618 - 34880618

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.444C > T;p.T148T;21:34880621 - 34880621

 胃 癌;腺癌 替换-编码沉默

c.784C > T;p.Q262 *;21:34834431 - 34834431

 large_intestine;结肠 癌;腺癌 替换-胡说

c.447A > G;p.A149A;21:34880618 - 34880618

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-编码沉默

c.971C > T;p.A324V;21:34792607 - 34792607

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.784C > T;p.Q262 *;21:34834431 - 34834431

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-胡说

c.342C >;p.I114I;21:34886852 - 34886852

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-编码沉默

c.444C > T;p.T148T;21:34880621 - 34880621

 肺 癌;squamous_cell_carcinoma 替换-编码沉默

c.784C > T;p.Q262 *;21:34834431 - 34834431

 食管 癌;腺癌 替换-胡说

c.342C >;p.I114I;21:34886852 - 34886852

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-编码沉默

c.514delA;p.S172fs * 4;21:34859573 - 34859573

 large_intestine;结肠 癌;腺癌 删除——转移

c.428_429ins14;p.E143fs * 7;21:34880636 - 34880637

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_therapy_related 插入——转移

c.245_246insTGCTT;p.D84fs * 40;21:34886948 - 34886949

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.1076_1077insC;p.V360fs * > 122;21:34792501 - 34792502

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.1214_1215insACCT;p.Y406fs * 78;21:34792363 - 34792364

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.309_310insCT;p.T104fs * 19;21:34886884 - 34886885

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.667G > T;p.E223 *;21:34834548 - 34834548

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-胡说

c.441T >;p.A147A;21:34880624 - 34880624

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.1258_1280del23;p.G420fs * > 54;21:34792298 - 34792320

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.1184C > T;p.P395L;21:34792394 - 34792394

 large_intestine;结肠 癌;腺癌 替换-错义

c.737C > T;p.T246M;21:34834478 - 34834478

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1096_1103delATCGGCAT;p.I366fs * 114;21:34792475 - 34792482

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.1096_1103delATCGGCAT;p.I366fs * 114;21:34792475 - 34792482

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 删除——转移

c.56G >;p.R19K;21:35048844 - 35048844

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.506_507ins11;p.R169fs * 11;21:34880558 - 34880559

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.502G > T;p.G168 *;21:34880563 - 34880563

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_therapy_related 替换-胡说

c.960A > G;p.R320R;21:34799308 - 34799308

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.494G > T;p.G165V;21:34880571 - 34880571

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 替换-错义

c.960A > G;p.R320R;21:34799308 - 34799308

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-编码沉默

c.395_396delTG;p.V132fs * 5;21:34880669 - 34880670

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.445G > C;p.A149P;21:34880620 - 34880620

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.445G > C;p.A149P;21:34880620 - 34880620

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.494G > T;p.G165V;21:34880571 - 34880571

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_leukaemic_transformation_of_primary_myelofibrosis 替换-错义

c.167T > C;p.L56S;21:34887027 - 34887027

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.167T > C;p.L56S;21:34887027 - 34887027

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.167T > C;p.L56S;21:34887027 - 34887027

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.167T > C;p.L56S;21:34887027 - 34887027

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.167T > C;p.L56S;21:34887027 - 34887027

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 替换-错义

c.274A > G;p.T92A;21:34886920 - 34886920

 large_intestine;结肠 癌;腺癌 替换-错义

c.712delG;p.V238fs * 16;21:34834503 - 34834503

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 删除——转移

c.274A > G;p.T92A;21:34886920 - 34886920

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.167T > C;p.L56S;21:34887027 - 34887027

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable 替换-错义

c.167T > C;p.L56S;21:34887027 - 34887027

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.578T > C;p.I193T;21:34859509 - 34859509

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.641C > T;p.T214I;21:34834574 - 34834574

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.335_339delTGCCC;p.L112fs * 24;21:34886855 - 34886859

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 删除——转移

c.351 + 1 _351 + 2 insg;p。?。21:34886841 - 34886842

 乳房 癌 未知的

c.1164_1165insG;p.S389fs * 94;21:34792413 - 34792414

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.319C > T;p.R107C;21:34886875 - 34886875

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.319C > T;p.R107C;21:34886875 - 34886875

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.319C > T;p.R107C;21:34886875 - 34886875

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 替换-错义

c.319C > T;p.R107C;21:34886875 - 34886875

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.319C > T;p.R107C;21:34886875 - 34886875

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1098C > T;p.I366I;21:34792480 - 34792480

 肺 癌;腺癌 替换-编码沉默

c.319C > T;p.R107C;21:34886875 - 34886875

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.319C > T;p.R107C;21:34886875 - 34886875

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.227G >;p.R76H;21:34886967 - 34886967

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.319C > T;p.R107C;21:34886875 - 34886875

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.319C > T;p.R107C;21:34886875 - 34886875

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.319C > T;p.R107C;21:34886875 - 34886875

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 替换-错义

c.319C > T;p.R107C;21:34886875 - 34886875

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.338C > T;p.P113L;21:34886856 - 34886856

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.493G >;p.G165S;21:34880572 - 34880572

 large_intestine;结肠 癌;腺癌 替换-错义

c.1090_1103del14;p.I364fs * 114;21:34792475 - 34792488

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 删除——转移

c.602G >;p.R201Q;21:34859485 - 34859485

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;essential_thrombocythaemia 替换-错义

c.602G >;p.R201Q;21:34859485 - 34859485

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.338C > T;p.P113L;21:34886856 - 34886856

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.338C > T;p.P113L;21:34886856 - 34886856

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.338C > T;p.P113L;21:34886856 - 34886856

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1090_1103del14;p.I364fs * 114;21:34792475 - 34792488

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.602G >;p.R201Q;21:34859485 - 34859485

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.602G >;p.R201Q;21:34859485 - 34859485

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_B_cell_leukaemia 替换-错义

c.602G >;p.R201Q;21:34859485 - 34859485

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.602G >;p.R201Q;21:34859485 - 34859485

 食管 癌;腺癌 替换-错义

c.577A > G;p.I193V;21:34859510 - 34859510

 large_intestine;结肠 癌;腺癌 替换-错义

c.493G >;p.G165S;21:34880572 - 34880572

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.1090_1103del14;p.I364fs * 114;21:34792475 - 34792488

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 删除——转移

c.602G >;p.R201Q;21:34859485 - 34859485

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.338C > T;p.P113L;21:34886856 - 34886856

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1011C > T;p.P337P;21:34792567 - 34792567

 乳房 癌 替换-编码沉默

c.602G >;p.R201Q;21:34859485 - 34859485

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.602G >;p.R201Q;21:34859485 - 34859485

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 替换-错义

c.602G >;p.R201Q;21:34859485 - 34859485

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.602G >;p.R201Q;21:34859485 - 34859485

 肺;right_upper_lobe 癌;腺癌 替换-错义

c.602G >;p.R201Q;21:34859485 - 34859485

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 替换-错义

c.602G >;p.R201Q;21:34859485 - 34859485

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.602G >;p.R201Q;21:34859485 - 34859485

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.493G >;p.G165S;21:34880572 - 34880572

 large_intestine;结肠 癌;腺癌 替换-错义

c.602G >;p.R201Q;21:34859485 - 34859485

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1274C >;p.P425Q;21:34792304 - 34792304

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.599C >;p.P200H;21:34859488 - 34859488

 large_intestine;直肠 癌;腺癌 替换-错义

c.493G >;p.G165S;21:34880572 - 34880572

 large_intestine;结肠 癌;腺癌 替换-错义

c.318G > T;p.W106C;21:34886876 - 34886876

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.318G > T;p.W106C;21:34886876 - 34886876

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 替换-错义

c.318G > T;p.W106C;21:34886876 - 34886876

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1014delG;p.L339fs * 143;21:34792564 - 34792564

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 删除——转移

c.43C > T;p.Q15 *;21:35048857 - 35048857

 食道;lower_third 癌;腺癌 替换-胡说

c.508 + 1英寸吗?p。?。21:34880555 - 34880556

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.1153_1157delTACCC;p.Y385fs * 96;21:34792421 - 34792425

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 删除——转移

c.437A > G;p.N146S;21:34880628 - 34880628

 large_intestine;结肠 癌;腺癌 替换-错义

c.437A > G;p.N146S;21:34880628 - 34880628

 large_intestine;结肠 癌;腺癌 替换-错义

c.336_341delGCCCAT;p.P113_I114del;21:34886853 - 34886858

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——在坐标系

c.330G > T;p.K110N;21:34886864 - 34886864

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.508 + 5 g > T;p。?。21:34880552 - 34880552

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;骨髓纤维化 未知的

c.423_423G > CCTTCC;p.A142fs * 5;21:34880642 - 34880642

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 复杂——转移

c.291_292insCTCTG;p.V101fs * 23;21:34886902 - 34886903

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.469delA;p.R157fs * 19;21:34880596 - 34880596

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.583_584insAT;p.I195fs * 17;21:34859503 - 34859504

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.312delG;p.H105fs * 17;21:34886882 - 34886882

 salivary_gland;舌头 癌;adenoid_cystic_carcinoma 删除——转移

c.682C > T;p.L228L;21:34834533 - 34834533

 皮肤 malignant_melanoma 替换-编码沉默

c.315C > G;p.H105Q;21:34886879 - 34886879

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.531_532insATC;p.I177_T178insI;21:34859555 - 34859556

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——在坐标系

c.416A > C;p.N139T;21:34880649 - 34880649

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.531_532insATC;p.I177_T178insI;21:34859555 - 34859556

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——在坐标系

c.345T > G;p.A115A;21:34886849 - 34886849

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.850_865del16;p.S284fs * 22;21:34799403 - 34799418

 乳房 癌 删除——转移

c.551C > T;p.P184L;21:34859536 - 34859536

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.251_252insC;p.H85fs * 53个;21:34886942 - 34886943

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 插入——转移

c.551C > T;p.P184L;21:34859536 - 34859536

 large_intestine;结肠 癌;腺癌 替换-错义

c.967 + 1 g >;p。?。21:34799300 - 34799300

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.266T > G;p.L89R;21:34886928 - 34886928

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1034C > G;p.P345R;21:34792544 - 34792544

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.269T > C;p.V90A;21:34886925 - 34886925

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.522T > C;p.T174T;21:34859565 - 34859565

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.610C > T;p.R204 *;21:34859477 - 34859477

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-胡说

c.610C > T;p.R204 *;21:34859477 - 34859477

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-胡说

c.610C > T;p.R204 *;21:34859477 - 34859477

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-胡说

c.610C > T;p.R204 *;21:34859477 - 34859477

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.424_425insGGGCAGG;p.A142fs * 4;21:34880640 - 34880641

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.188C > T;p.A63V;21:34887006 - 34887006

 肺 癌;腺癌 替换-错义

c.481_482insC;p.L161fs * 52个;21:34880583 - 34880584

 乳房 癌 插入——转移

c.178_179insGG;p.A60fs * 13;21:34887015 - 34887016

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.520A > T;p.T174S;21:34859567 - 34859567

 large_intestine;结肠 癌;腺癌 替换-错义

c.364G > C;p.G122R;21:34880701 - 34880701

 乳房 癌 替换-错义

c.1212C > T;p.H404H;21:34792366 - 34792366

 central_nervous_system;大脑 神经胶质瘤;astrocytoma_Grade_IV 替换-编码沉默

c.1048C > T;p.P350S;21:34792530 - 34792530

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.660_661insC;p.F221fs * 7;21:34834554 - 34834555

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.1065C > G;p.Y355 *;21:34792513 - 34792513

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.342C > T;p.I114I;21:34886852 - 34886852

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.228C > T;p.R76R;21:34886966 - 34886966

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.508_508 + 1 insag;p.G170fs * 7;21:34880556 - 34880557

 食道;lower_third 癌;腺癌 未知的

c.421T > C;p.S141P;21:34880644 - 34880644

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.421T > C;p.S141P;21:34880644 - 34880644

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.934_935insA;p.T312fs * 171;21:34799333 - 34799334

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 插入——转移

c.965C > G;p.S322 *;21:34799303 - 34799303

 salivary_gland 癌;adenoid_cystic_carcinoma 替换-胡说

c.801G >;p.M267I;21:34834414 - 34834414

 large_intestine;结肠 癌 替换-错义

c.372_373ins10;p.P125fs * 2;21:34880692 - 34880693

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.508 + 1 g >;p。?。21:34880556 - 34880556

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.801G >;p.M267I;21:34834414 - 34834414

 large_intestine 癌;腺癌 替换-错义

c.497_498insTTCAACG;p.G168fs * 47;21:34880567 - 34880568

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.243_244insTG;p.L82fs * 41;21:34886950 - 34886951

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 插入——转移

c.593A > G;p.D198G;21:34859494 - 34859494

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.593A > G;p.D198G;21:34859494 - 34859494

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.593A > G;p.D198G;21:34859494 - 34859494

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.593A > G;p.D198G;21:34859494 - 34859494

 乳房 癌 替换-错义

c.593A > G;p.D198G;21:34859494 - 34859494

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myeloid_leukaemia 替换-错义

c.593A > G;p.D198G;21:34859494 - 34859494

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.593A > G;p.D198G;21:34859494 - 34859494

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 替换-错义

c.523_524insTGCCT;p.T176fs * 2;21:34859563 - 34859564

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_leukaemic_transformation_of_myeloproliferative_neoplasm 插入——转移

c.593A > G;p.D198G;21:34859494 - 34859494

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1065_1065delC;p.S356fs * 126;21:34792513 - 34792513

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.314A > T;p.H105L;21:34886880 - 34886880

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.299C > T;p.S100F;21:34886895 - 34886895

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myeloid_leukaemia 替换-错义

c.299C > T;p.S100F;21:34886895 - 34886895

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.452T > G;p.M151R;21:34880613 - 34880613

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.335T > C;p.L112P;21:34886859 - 34886859

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.601C > G;p.R201G;21:34859486 - 34859486

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.651_667del17;p.S218fs * 4;21:34834548 - 34834564

 乳房 癌 删除——转移

c.601C > G;p.R201G;21:34859486 - 34859486

 large_intestine;结肠 癌;腺癌 替换-错义

c.842A > T;p.Y281F;21:34799426 - 34799426

 large_intestine;结肠 癌;腺癌 替换-错义

c.482T > C;p.L161P;21:34880583 - 34880583

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.482T > C;p.L161P;21:34880583 - 34880583

 乳房 癌 替换-错义

c.496C > G;p.R166G;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 替换-错义

c.496C > G;p.R166G;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 替换-错义

c.694C > T;p.R232W;21:34834521 - 34834521

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.496C > G;p.R166G;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.694C > T;p.R232W;21:34834521 - 34834521

 large_intestine;结肠 癌;腺癌 替换-错义

c.496C > G;p.R166G;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_therapy_related 替换-错义

c.694C > T;p.R232W;21:34834521 - 34834521

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.694C > T;p.R232W;21:34834521 - 34834521

 食管 癌;腺癌 替换-错义

c.925G >;p.G309S;21:34799343 - 34799343

 upper_aerodigestive_tract;head_neck 癌;squamous_cell_carcinoma 替换-错义

c.1247_1248insAGCCCCC;p.F416fs * 69;21:34792330 - 34792331

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.668A > G;p.E223G;21:34834547 - 34834547

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 替换-错义

c.347_348ins34;p.F116fs * 33;21:34886846 - 34886847

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.493G > C;p.G165R;21:34880572 - 34880572

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.506_507insA;p.G170fs * 43;21:34880558 - 34880559

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.1190_1191insG;p.A398fs * 85;21:34792387 - 34792388

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.506_507insA;p.G170fs * 43;21:34880558 - 34880559

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm 插入——转移

c.776_789del14;p.F259fs * 219;21:34834426 - 34834439

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.1313_1314insG;p.S439fs * 44;21:34792264 - 34792265

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.1232C > T;p.A411V;21:34792346 - 34792346

 前列腺癌 癌 替换-错义

c.492_493insTAG;p.V164_G165ins *;21:34880572 - 34880573

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——在坐标系

c.423_424ins14;p.A142fs * 8;21:34880641 - 34880642

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.522T > G;p.T174T;21:34859565 - 34859565

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;juvenile_myelomonocytic_leukaemia 替换-编码沉默

c.440C >;p.A147D;21:34880625 - 34880625

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1265_1266delAG;p.E422fs * 60;21:34792312 - 34792313

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.320G > C;p.R107P;21:34886874 - 34886874

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.1396A > T;p.M466L;21:34792182 - 34792182

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.297_298insAGAC;p.S100fs * 39;21:34886896 - 34886897

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.782_783insCC;p.Q262fs * 50;21:34834432 - 34834433

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.507_508ins11;p.G170fs * 10;21:34880557 - 34880558

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.205G > C;p.G69R;21:34886989 - 34886989

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.205G > C;p.G69R;21:34886989 - 34886989

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 替换-错义

c.358delG;p.A120fs * 2;21:34880707 - 34880707

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.750_751insACCGT;p.A251fs * 5;21:34834464 - 34834465

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 插入——转移

c.358delG;p.A120fs * 2;21:34880707 - 34880707

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.329A > G;p.K110R;21:34886865 - 34886865

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.329A > G;p.K110R;21:34886865 - 34886865

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.329A > G;p.K110R;21:34886865 - 34886865

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.807_808insA;p.T270fs * > 212;21:34799460 - 34799461

 乳房 癌;lobular_carcinoma 插入——转移

c.497G > T;p.R166L;21:34880568 - 34880568

 large_intestine;结肠 癌;腺癌 替换-错义

c.497G > T;p.R166L;21:34880568 - 34880568

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.816G >;p.Q272Q;21:34799452 - 34799452

 皮肤 malignant_melanoma 替换-编码沉默

c.393T >;p.T131T;21:34880672 - 34880672

 乳房 癌 替换-编码沉默

c.1344_1345insGAGC;p.Q449fs * 35;21:34792233 - 34792234

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.776_783delTTAACCCT;p.F259fs * > 220;21:34834432 - 34834439

 乳房 癌 删除——转移

c.31C > T;p.P11S;21:35048869 - 35048869

 皮肤 malignant_melanoma 替换-错义

c.442_443insGAGTAGAT;p.T148fs * 7;21:34880622 - 34880623

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.442_443insGAGTAGAT;p.T148fs * 7;21:34880622 - 34880623

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.796C > T;p.Q266 *;21:34834419 - 34834419

 乳房 癌 替换-胡说

c.419_420ins23;p.Y140fs * 1;21:34880645 - 34880646

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.422C > T;p.S141L;21:34880643 - 34880643

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.184_185insGCGC;p.D62fs * 77;21:34887009 - 34887010

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myeloid_leukaemia 插入——转移

c.422C > T;p.S141L;21:34880643 - 34880643

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.422C > T;p.S141L;21:34880643 - 34880643

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.422C > T;p.S141L;21:34880643 - 34880643

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.422C > T;p.S141L;21:34880643 - 34880643

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.422C > T;p.S141L;21:34880643 - 34880643

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.422C > T;p.S141L;21:34880643 - 34880643

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.1154A > G;p.Y385C;21:34792424 - 34792424

 large_intestine 癌;腺癌 替换-错义

c.796C > T;p.Q266 *;21:34834419 - 34834419

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-胡说

c.1111_1112insT;p.M371fs * > 111;21:34792466 - 34792467

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 插入——转移

c.734C > T;p.P245L;21:34834481 - 34834481

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.859_860insCAAT;p.Y287fs * 197;21:34799408 - 34799409

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 插入——转移

c.1111_1112insT;p.M371fs * > 111;21:34792466 - 34792467

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.1220A > G;p.Y407C;21:34792358 - 34792358

 肝 癌 替换-错义

c.422_423insAGGC;p.A142fs * 3;21:34880642 - 34880643

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.1172_1176delCGCAG;p.A391fs * 90;21:34792402 - 34792406

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.967 + 1 delgtaa;p。?。21:34799297 - 34799300

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 未知的

c.1220A > G;p.Y407C;21:34792358 - 34792358

 肝 癌 替换-错义

c.496C > T;p.R166 *;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.496C > T;p.R166 *;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.496C > T;p.R166 *;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myeloid_leukaemia 替换-胡说

c.496C > T;p.R166 *;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-胡说

c.496C > T;p.R166 *;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.496C > T;p.R166 *;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 替换-胡说

c.496C > T;p.R166 *;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-胡说

c.1073_1074insC;p.P359fs * 124;21:34792504 - 34792505

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.496C > T;p.R166 *;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.1415T > C;p.L472P;21:34792163 - 34792163

 large_intestine 癌;腺癌 替换-错义

c.496C > T;p.R166 *;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-胡说

c.454_454delA;p.K152fs * 24;21:34880611 - 34880611

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 删除——转移

c.496C > T;p.R166 *;21:34880569 - 34880569

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.900_901delGC;p.P301fs * > 180;21:34799367 - 34799368

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.937_938delCT;p.S314fs * 168;21:34799330 - 34799331

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.423_424insCCC;p.S141_A142insP;21:34880641 - 34880642

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——在坐标系

c.188_194delCCGGCGC;p.A63fs * 7;21:34887000 - 34887006

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.341T > C;p.I114T;21:34886853 - 34886853

 large_intestine;直肠 癌;腺癌 替换-错义

c.312_313delGC;p.H105fs * 32;21:34886881 - 34886882

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.552G > T;p.P184P;21:34859535 - 34859535

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-编码沉默

c.432_441del10;p.R145fs * 4;21:34880624 - 34880633

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_B_cell_leukaemia 删除——转移

c.486G > C;p.R162S;21:34880579 - 34880579

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.486G > C;p.R162S;21:34880579 - 34880579

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 替换-错义

c.291delC;p.L98fs * 24;21:34886903 - 34886903

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.160G > C;p.E54Q;21:34887034 - 34887034

 肺 癌;腺癌 替换-错义

c.291delC;p.L98fs * 24;21:34886903 - 34886903

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.291delC;p.L98fs * 24;21:34886903 - 34886903

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.300_301insC;p.V101fs * 37;21:34886893 - 34886894

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.480C >;p.D160E;21:34880585 - 34880585

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.422delC;p.S141fs * 4;21:34880643 - 34880643

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 删除——转移

c.749G >;p.R250H;21:34834466 - 34834466

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 替换-错义

c.367_368insGG;p.D123fs * 11;21:34880697 - 34880698

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.989_990insCAGC;p.D332fs * > 151;21:34792588 - 34792589

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.611G > T;p.R204L;21:34859476 - 34859476

 large_intestine;结肠 癌;腺癌 替换-错义

c.361_362insCC;p.L121fs * 2;21:34880703 - 34880704

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 插入——转移

c.611G > T;p.R204L;21:34859476 - 34859476

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.751G >;p.A251T;21:34834464 - 34834464

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.325_326insTGCA;p.N109fs * 30;21:34886868 - 34886869

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 插入——转移

c.880C > T;p.P294S;21:34799388 - 34799388

 皮肤 malignant_melanoma 替换-错义

c.257_258insGT;p.G87fs * 36;21:34886936 - 34886937

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.1077G >;p.P359P;21:34792501 - 34792501

 胰腺 癌 替换-编码沉默

c.622C > T;p.Q208 *;21:34834593 - 34834593

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.424_425insGG;p.A142fs * 4;21:34880640 - 34880641

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.479A > T;p.D160V;21:34880586 - 34880586

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.54G > C;p.M18I;21:35048846 - 35048846

 urinary_tract;膀胱 癌 替换-错义

c.321C >;p.R107R;21:34886873 - 34886873

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-编码沉默

c.508 + 1 g > C;p。?。21:34880556 - 34880556

 乳房 癌 未知的

c.284_285insTGG;p.P95_N96insG;21:34886909 - 34886910

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——在坐标系

c.675_676insC;p.S226fs * 2;21:34834539 - 34834540

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.492_492C > AGGA;p.V164_G165insG;21:34880573 - 34880573

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 插入——在坐标系

c.777delT;p.F259fs * 52个;21:34834438 - 34834438

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 删除——转移

c.119_173del55;p.F40fs * 14;21:34887021 - 34887075

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.1077_1078insTGGGGC;p.P359_V360insWG;21:34792500 - 34792501

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——在坐标系

c.253C >;p.H85N;21:34886941 - 34886941

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myeloproliferative_neoplasm 替换-错义

c.422_423insC;p.A142fs * 2;21:34880642 - 34880643

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.885_891delTGTGCAC;p.V296fs * 13;21:34799377 - 34799383

 乳房 癌 删除——转移

c.253C >;p.H85N;21:34886941 - 34886941

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.879delT;p.P294fs * 17;21:34799389 - 34799389

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.464_465ins60;p.V155_A156ins20;21:34880600 - 34880601

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——在坐标系

c.551C >;p.P184Q;21:34859536 - 34859536

 large_intestine;盲肠 癌;腺癌 替换-错义

c.253C >;p.H85N;21:34886941 - 34886941

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.112_166del55;p.R38fs * 16;21:34887028 - 34887082

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.1153_1154insT;p.Y385fs * 98;21:34792424 - 34792425

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.1058T > C;p.F353S;21:34792520 - 34792520

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1108G >;p.A370T;21:34792470 - 34792470

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.1029C > T;p.S343S;21:34792549 - 34792549

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.330G > C;p.K110N;21:34886864 - 34886864

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1058T > C;p.F353S;21:34792520 - 34792520

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.986C > T;p.A329V;21:34792592 - 34792592

 large_intestine;结肠 癌;腺癌 替换-错义

c.445_446ins22;p.A149fs * 2;21:34880619 - 34880620

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.445_446ins22;p.A149fs * 2;21:34880619 - 34880620

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.911_912insT;p.G305fs * > 177;21:34799356 - 34799357

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.195_223del29;p.A66fs * 62;21:34886971 - 34886999

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable 删除——转移

c.401C >;p.A134D;21:34880664 - 34880664

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1190A > G;p.Q397R;21:34792388 - 34792388

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1190A > G;p.Q397R;21:34792388 - 34792388

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.445_446ins22;p.A149fs * 2;21:34880619 - 34880620

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.445_446ins22;p.A149fs * 2;21:34880619 - 34880620

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.335T >;p.L112Q;21:34886859 - 34886859

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.731C > T;p.A244V;21:34834484 - 34834484

 乳房 癌 替换-错义

c.431T > C;p.L144P;21:34880634 - 34880634

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.431T > C;p.L144P;21:34880634 - 34880634

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.431T > C;p.L144P;21:34880634 - 34880634

 large_intestine;盲肠 癌;腺癌 替换-错义

c.373delC;p.P125fs * 8;21:34880692 - 34880692

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.1-30insC;p。?。21:35048928 - 35048929

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.924C > T;p.S308S;21:34799344 - 34799344

 胃 癌;腺癌 替换-编码沉默

c.1184delC;p.P395fs * > 86;21:34792394 - 34792394

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.509-2A > C;p。?。21:34859580 - 34859580

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.575C > T;p.A192V;21:34859512 - 34859512

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.667_668delGA;p.E223fs * 4;21:34834547 - 34834548

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.494_495insCGGGGG;p.G165_R166insGG;21:34880570 - 34880571

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_therapy_related 插入——在坐标系

c.486G >;p.R162R;21:34880579 - 34880579

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.495T > C;p.G165G;21:34880570 - 34880570

 large_intestine;直肠 癌;腺癌 替换-编码沉默

c.334_335insCCC;p.T111_L112insP;21:34886859 - 34886860

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 插入——在坐标系

c.486G >;p.R162R;21:34880579 - 34880579

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.320G >;p.R107H;21:34886874 - 34886874

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.320G >;p.R107H;21:34886874 - 34886874

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.423_424insCC;p.A142fs * 4;21:34880641 - 34880642

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.555A > G;p.Q185Q;21:34859532 - 34859532

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.555A > G;p.Q185Q;21:34859532 - 34859532

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.710G >;p.R237K;21:34834505 - 34834505

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.320G >;p.R107H;21:34886874 - 34886874

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.583_584insAAAA;p.I195fs * 19;21:34859503 - 34859504

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 插入——转移

c.555A > G;p.Q185Q;21:34859532 - 34859532

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.505_506insA;p.R169fs * 44;21:34880559 - 34880560

 乳房 癌 插入——转移

c.555A > T;p.Q185H;21:34859532 - 34859532

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 替换-错义

c.352-1G >;p。?。21:34880714 - 34880714

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 未知的

c.488T >;p.F163Y;21:34880577 - 34880577

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.530T > C;p.I177T;21:34859557 - 34859557

 large_intestine;结肠 癌;腺癌 替换-错义

c.530T > C;p.I177T;21:34859557 - 34859557

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.371_372ins10;p.P125fs * 16;21:34880693 - 34880694

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.530T > C;p.I177T;21:34859557 - 34859557

 large_intestine;盲肠 癌;腺癌 替换-错义

c.287A > G;p.N96S;21:34886907 - 34886907

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.296G >;p.C99Y;21:34886898 - 34886898

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.437A > T;p.N146I;21:34880628 - 34880628

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_leukaemic_transformation_of_primary_myelofibrosis 替换-错义

c.530T > C;p.I177T;21:34859557 - 34859557

 large_intestine;盲肠 癌;腺癌 替换-错义

c.728C > T;p.P243L;21:34834487 - 34834487

 食管 癌;腺癌 替换-错义

c.501T >;p.S167R;21:34880564 - 34880564

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.530T > C;p.I177T;21:34859557 - 34859557

 large_intestine;结肠 癌;腺癌 替换-错义

c.427_428ins25;p.E143fs * 3;21:34880637 - 34880638

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 插入——转移

c.349A > T;p.K117 *;21:34886845 - 34886845

 乳房 癌 替换-胡说

c.896_897insA;p.T300fs * > 182;21:34799371 - 34799372

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 插入——转移

c.281G > T;p.S94I;21:34886913 - 34886913

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 替换-错义

c.952_953insT;p.S318fs * 165;21:34799315 - 34799316

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.751_762 > AAC格式;p.A251_N254 > N;21:34834453 - 34834464

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 复杂——删除inframe

c.337C > G;p.P113A;21:34886857 - 34886857

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

本月c.967 + 2 _967 + 3;p。?。21:34799298 - 34799299

 乳房 癌 未知的

c.589G > T;p.V197L;21:34859498 - 34859498

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.474delT;p.F158fs * 18;21:34880591 - 34880591

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 删除——转移

c.474delT;p.F158fs * 18;21:34880591 - 34880591

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 删除——转移

c.598C > T;p.P200S;21:34859489 - 34859489

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.422C >;p.S141 *;21:34880643 - 34880643

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.422C >;p.S141 *;21:34880643 - 34880643

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.422C >;p.S141 *;21:34880643 - 34880643

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.417C > G;p.N139K;21:34880648 - 34880648

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.418_419insT;p.Y140fs * 4;21:34880646 - 34880647

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.441_442ins19;p.T148fs * 2;21:34880623 - 34880624

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.1189_1189delC;p.Q397fs * 85;21:34792389 - 34792389

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 删除——转移

c.441_442ins19;p.T148fs * 2;21:34880623 - 34880624

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.865G > T;p.G289 *;21:34799403 - 34799403

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-胡说

c.565T > C;p.Y189H;21:34859522 - 34859522

 乳房 癌 替换-错义

c.713T > C;p.V238A;21:34834502 - 34834502

 胃 癌;腺癌 替换-错义

c.592G >;p.D198N;21:34859495 - 34859495

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.592G >;p.D198N;21:34859495 - 34859495

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 替换-错义

c.592G >;p.D198N;21:34859495 - 34859495

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.592G >;p.D198N;21:34859495 - 34859495

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_leukaemic_transformation_of_primary_myelofibrosis 替换-错义

c.592G >;p.D198N;21:34859495 - 34859495

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.592G >;p.D198N;21:34859495 - 34859495

 肺 癌;腺癌 替换-错义

c.508G >;p.G170R;21:34880557 - 34880557

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.592G >;p.D198N;21:34859495 - 34859495

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.337C > T;p.P113S;21:34886857 - 34886857

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.592G >;p.D198N;21:34859495 - 34859495

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.384T > C;p.T128T;21:34880681 - 34880681

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-编码沉默

c.384T > C;p.T128T;21:34880681 - 34880681

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.592G >;p.D198N;21:34859495 - 34859495

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.592G >;p.D198N;21:34859495 - 34859495

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.587C > T;p.T196I;21:34859500 - 34859500

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.592G >;p.D198N;21:34859495 - 34859495

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_leukaemic_transformation_of_primary_myelofibrosis 替换-错义

c.592G >;p.D198N;21:34859495 - 34859495

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 替换-错义

c.592G >;p.D198N;21:34859495 - 34859495

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.596G > C;p.G199A;21:34859491 - 34859491

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_therapy_related 替换-错义

c.676_677insGC;p.E227fs * 11;21:34834538 - 34834539

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.479A > G;p.D160G;21:34880586 - 34880586

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.1015_1016ins12;p.A338_L339insQFPA;21:34792562 - 34792563

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——在坐标系

c.146C > T;p.P49L;21:34887048 - 34887048

 large_intestine 癌;腺癌 替换-错义

c.1011_1012insC;p.A338fs * 145;21:34792566 - 34792567

 large_intestine;结肠 癌;腺癌 插入——转移

c.347T > C;p.F116S;21:34886847 - 34886847

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.1011_1012insC;p.A338fs * 145;21:34792566 - 34792567

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.651G > T;p.G217G;21:34834564 - 34834564

 皮肤;head_neck 癌;squamous_cell_carcinoma 替换-编码沉默

c.510_510delG;p.S172fs * 4;21:34859577 - 34859577

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.593A > T;p.D198V;21:34859494 - 34859494

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.462G >;p.Q154Q;21:34880603 - 34880603

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.593A > T;p.D198V;21:34859494 - 34859494

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.502G > C;p.G168R;21:34880563 - 34880563

 乳房 癌 替换-错义

c.513A > T;p.K171N;21:34859574 - 34859574

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.593A > T;p.D198V;21:34859494 - 34859494

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.502G > C;p.G168R;21:34880563 - 34880563

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.461A > G;p.Q154R;21:34880604 - 34880604

 large_intestine;盲肠 癌;腺癌 替换-错义

c.603A > G;p.R201R;21:34859484 - 34859484

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.443_444ins71;p.A149fs * 8;21:34880621 - 34880622

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.529A > G;p.I177V;21:34859558 - 34859558

 large_intestine;结肠 癌;腺癌 替换-错义

c.1274C > T;p.P425L;21:34792304 - 34792304

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.523C > T;p.L175L;21:34859564 - 34859564

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.949C > T;p.L317F;21:34799319 - 34799319

 乳房 癌 替换-错义

c.720_733del14;p.H242fs * 14;21:34834482 - 34834495

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 删除——转移

c.1262_1263insTGGGGGC;p.E422fs * 63;21:34792315 - 34792316

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.427_441del15;p.E143_A147delELRNA;21:34880624 - 34880638

 乳房 癌 删除——在坐标系

c.675_676insCGC;p.L225_S226insR;21:34834539 - 34834540

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 插入——在坐标系

c.328A > C;p.K110Q;21:34886866 - 34886866

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.497_498insGTCG;p.G168fs * 46;21:34880567 - 34880568

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blastic_plasmacytoid_dendritic_cell_neoplasm 插入——转移

c.492_493insTAGCC;p.G165fs * 1;21:34880572 - 34880573

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.492_493insTAGCC;p.G165fs * 1;21:34880572 - 34880573

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.425_426insCGGC;p.E143fs * 2;21:34880639 - 34880640

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.492_493insTAGCC;p.G165fs * 1;21:34880572 - 34880573

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.240_241insG;p.V81fs * 57;21:34886953 - 34886954

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 插入——转移

c.353T > C;p.V118A;21:34880712 - 34880712

 large_intestine;结肠 癌;腺癌 替换-错义

c.952T > G;p.S318A;21:34799316 - 34799316

 骨 Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour 替换-错义

c.1086G > C;p.S362S;21:34792492 - 34792492

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.493_494insTTTTG;p.G165fs * 13;21:34880571 - 34880572

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.841T > C;p.Y281H;21:34799427 - 34799427

 large_intestine;盲肠 癌;腺癌 替换-错义

c.841T > C;p.Y281H;21:34799427 - 34799427

 large_intestine;结肠 癌;腺癌 替换-错义

c.1217_1218insTGTA;p.Y407fs * > 76;21:34792360 - 34792361

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.1221_1225delCGGCG;p.G408fs * 73;21:34792353 - 34792357

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 删除——转移

c.449_449delC;p.M151fs * 1;21:34880616 - 34880616

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 删除——转移

c.748C > T;p.R250C;21:34834467 - 34834467

 large_intestine;结肠 癌;腺癌 替换-错义

c.748C > T;p.R250C;21:34834467 - 34834467

 large_intestine;结肠 癌;腺癌 替换-错义

c.474_487del14;p.N159fs * 49;21:34880578 - 34880591

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.22G > C;p.E8Q;21:35048878 - 35048878

 乳房 癌 替换-错义

c.22G > C;p.E8Q;21:35048878 - 35048878

 肺 癌;腺癌 替换-错义

c.952delT;p.S318fs * 10;21:34799316 - 34799316

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 删除——转移

c.993_994ins10;p.D332fs * 154;21:34792584 - 34792585

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.898_899insAA;p.T300fs * 12;21:34799369 - 34799370

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable 插入——转移

c.1007_1008insC;p.A338fs * > 144;21:34792570 - 34792571

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 插入——转移

c.900G >;p.T300T;21:34799368 - 34799368

 胃 癌;腺癌 替换-编码沉默

c.1005_1006insT;p.A338fs * > 144;21:34792572 - 34792573

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.179C > T;p.A60V;21:34887015 - 34887015

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.490G > T;p.V164F;21:34880575 - 34880575

 胰腺 癌 替换-错义

c.613 + 41 delgtacaccctccaggctg;p。?。21:34859417 - 34859433

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.958C >;p.R320R;21:34799310 - 34799310

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.613 + 41 delgtacaccctccaggctg;p。?。21:34859417 - 34859433

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.490G > T;p.V164F;21:34880575 - 34880575

 胰腺 癌 替换-错义

c.334delC;p.L112fs * 10;21:34886860 - 34886860

 乳房 癌 删除——转移

c.735_736insC;p.T246fs * 15;21:34834479 - 34834480

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.1037G >;p.R346H;21:34792541 - 34792541

 胃 癌;腺癌 替换-错义

c.735_736insC;p.T246fs * 15;21:34834479 - 34834480

 乳房 癌 插入——转移

c.724_737del14;p.H242fs * 14;21:34834478 - 34834491

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 删除——转移

c.759G >;p.L253L;21:34834456 - 34834456

 乳房 癌 替换-编码沉默

c.967 + 2 _967 + 5 deltaag;p。?。21:34799296 - 34799299

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.446_447insTACCGC;p.A149_A150insTA;21:34880618 - 34880619

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——在坐标系

c.497G >;p.R166Q;21:34880568 - 34880568

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.497G >;p.R166Q;21:34880568 - 34880568

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.497G >;p.R166Q;21:34880568 - 34880568

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.944C > T;p.A315V;21:34799324 - 34799324

 upper_aerodigestive_tract;喉 癌;squamous_cell_carcinoma 替换-错义

c.497G >;p.R166Q;21:34880568 - 34880568

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.497G >;p.R166Q;21:34880568 - 34880568

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable 替换-错义

c.497G >;p.R166Q;21:34880568 - 34880568

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.400G > C;p.A134P;21:34880665 - 34880665

 urinary_tract;膀胱 癌 替换-错义

c.601C > T;p.R201 *;21:34859486 - 34859486

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.959G >;p.R320Q;21:34799309 - 34799309

 large_intestine;盲肠 癌;腺癌 替换-错义

c.601C > T;p.R201 *;21:34859486 - 34859486

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.601C > T;p.R201 *;21:34859486 - 34859486

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.601C > T;p.R201 *;21:34859486 - 34859486

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.959G >;p.R320Q;21:34799309 - 34799309

 large_intestine;结肠 癌;腺癌 替换-错义

c.601C > T;p.R201 *;21:34859486 - 34859486

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-胡说

c.601C > T;p.R201 *;21:34859486 - 34859486

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.492_493ins ?;p。?。21:34880572 - 34880573

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 未知的

c.601C > T;p.R201 *;21:34859486 - 34859486

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 替换-胡说

c.959G >;p.R320Q;21:34799309 - 34799309

 large_intestine;结肠 癌;腺癌 替换-错义

c.601C > T;p.R201 *;21:34859486 - 34859486

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-胡说

c.601C > T;p.R201 *;21:34859486 - 34859486

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.494G >;p.G165D;21:34880571 - 34880571

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.959G >;p.R320Q;21:34799309 - 34799309

 large_intestine;盲肠 癌;腺癌 替换-错义

c.315C >;p.H105Q;21:34886879 - 34886879

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 替换-错义

c.404G >;p.G135D;21:34880661 - 34880661

 乳房 癌 替换-错义

c.601C > T;p.R201 *;21:34859486 - 34859486

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.494G >;p.G165D;21:34880571 - 34880571

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.648_649insC;p.G217fs * 11;21:34834569 - 34834570

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.959G >;p.R320Q;21:34799309 - 34799309

 large_intestine;直肠 癌;腺癌 替换-错义

c.478G > T;p.D160Y;21:34880587 - 34880587

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.478G > T;p.D160Y;21:34880587 - 34880587

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.332C >;p.T111N;21:34886862 - 34886862

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.460C > T;p.Q154 *;21:34880605 - 34880605

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_leukaemic_transformation_of_polycythaemia_vera 替换-胡说

c.460C > T;p.Q154 *;21:34880605 - 34880605

 large_intestine;结肠 癌;腺癌 替换-胡说

c.399_399delG;p.A134fs * 11;21:34880666 - 34880666

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 删除——转移

c.484A > G;p.R162G;21:34880581 - 34880581

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.1223_1224insG;p.A409fs * 74;21:34792354 - 34792355

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.484A > G;p.R162G;21:34880581 - 34880581

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.484A > G;p.R162G;21:34880581 - 34880581

 large_intestine;盲肠 癌;腺癌 替换-错义

c.1263C > T;p.G421G;21:34792315 - 34792315

 large_intestine;盲肠 癌;腺癌 替换-编码沉默

c.484A > G;p.R162G;21:34880581 - 34880581

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.340_344delATCGC;p.I114fs * 22;21:34886850 - 34886854

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.484A > G;p.R162G;21:34880581 - 34880581

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.484A > G;p.R162G;21:34880581 - 34880581

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.340_344delATCGC;p.I114fs * 22;21:34886850 - 34886854

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.423_429delGGCTGAG;p.A142fs * 1;21:34880636 - 34880642

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 删除——转移

c.507A > C;p.R169S;21:34880558 - 34880558

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.964_965delTC;p.S322fs * 160;21:34799303 - 34799304

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 删除——转移

c.238_239insG;p.E80fs * 58;21:34886955 - 34886956

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.1164_1165delGT;p.S389fs * 93;21:34792413 - 34792414

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.1129_1130insT;p.Y377fs * 106;21:34792448 - 34792449

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.312_313insG;p.H105fs * 33;21:34886881 - 34886882

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.444_445ins22;p.A149fs * 2;21:34880620 - 34880621

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.936C >;p.T312T;21:34799332 - 34799332

 卵巢 其他;肿瘤 替换-编码沉默

c.291_292insGC;p.L98fs * 25;21:34886902 - 34886903

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.35C > T;p.S12L;21:35048865 - 35048865

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.959_959G > AGGGCCCA;p.R320fs * 165;21:34799309 - 34799309

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 复杂——转移

c.859_860insTA;p.Y287fs * 25;21:34799408 - 34799409

 乳房 癌 插入——转移

c.1302C > T;p.N434N;21:34792276 - 34792276

 卵巢 癌;serous_carcinoma 替换-编码沉默

c.316T > C;p.W106R;21:34886878 - 34886878

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.485G >;p.R162K;21:34880580 - 34880580

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.485G >;p.R162K;21:34880580 - 34880580

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.554A > G;p.Q185R;21:34859533 - 34859533

 large_intestine;结肠 癌;腺癌 替换-错义

c.485G >;p.R162K;21:34880580 - 34880580

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable 替换-错义

c.395_396insT;p.M133fs * 5;21:34880669 - 34880670

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_therapy_related 插入——转移

c.424_432GCTGAGCTG > ACCCCC;p.A142_L144 > TP;21:34880633 - 34880641

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 复杂——删除inframe

c.485G >;p.R162K;21:34880580 - 34880580

 large_intestine;结肠 癌;腺癌 替换-错义

c.637_638insC;p.Q213fs * 15;21:34834577 - 34834578

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.676A > C;p.S226R;21:34834539 - 34834539

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 替换-错义

c.860_861insTA;p.L288fs * 24;21:34799407 - 34799408

 乳房 癌 插入——转移

c.424_425insTCCC;p.A142fs * 3;21:34880640 - 34880641

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.352_352delG;p.V118fs * 4;21:34880713 - 34880713

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 删除——转移

c.695G > T;p.R232L;21:34834520 - 34834520

 urinary_tract;膀胱 癌 替换-错义

c.695G > T;p.R232L;21:34834520 - 34834520

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.524T > C;p.L175P;21:34859563 - 34859563

 large_intestine;结肠 癌;腺癌 替换-错义

c.524T > C;p.L175P;21:34859563 - 34859563

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.372delT;p.P125fs * 8;21:34880693 - 34880693

 乳房 癌 删除——转移

c.1142_1143insACCT;p.P383fs * 101;21:34792435 - 34792436

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.493G > T;p.G165C;21:34880572 - 34880572

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.493G > T;p.G165C;21:34880572 - 34880572

 large_intestine;结肠 癌;腺癌 替换-错义

c.539_540insG;p.F180fs * 33;21:34859547 - 34859548

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.843C > G;p.Y281 *;21:34799425 - 34799425

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 替换-胡说

c.287_288insA;p.N96fs * 42;21:34886906 - 34886907

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.1031_1032insC;p.R346fs * > 136;21:34792546 - 34792547

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.268_351del84;p.V90_K117del;21:34886843 - 34886926

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable 删除——在坐标系

c.425C >;p.A142D;21:34880640 - 34880640

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.1031_1032insC;p.R346fs * > 136;21:34792546 - 34792547

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.1085C > T;p.S362L;21:34792493 - 34792493

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.611G >;p.R204Q;21:34859476 - 34859476

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.611G >;p.R204Q;21:34859476 - 34859476

 肺 癌;squamous_cell_carcinoma 替换-错义

c.611G >;p.R204Q;21:34859476 - 34859476

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.611G >;p.R204Q;21:34859476 - 34859476

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome_therapy_related 替换-错义

c.223G > T;p.D75Y;21:34886971 - 34886971

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 替换-错义

c.611G >;p.R204Q;21:34859476 - 34859476

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.993C > T;p.S331S;21:34792585 - 34792585

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.318G > C;p.W106C;21:34886876 - 34886876

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.318G > C;p.W106C;21:34886876 - 34886876

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.611G >;p.R204Q;21:34859476 - 34859476

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.611G >;p.R204Q;21:34859476 - 34859476

 large_intestine;直肠 癌;腺癌 替换-错义

c.223G > T;p.D75Y;21:34886971 - 34886971

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.611G >;p.R204Q;21:34859476 - 34859476

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.611G >;p.R204Q;21:34859476 - 34859476

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.611G >;p.R204Q;21:34859476 - 34859476

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.611G >;p.R204Q;21:34859476 - 34859476

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.338C >;p.P113H;21:34886856 - 34886856

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS 替换-错义

c.491T > C;p.V164A;21:34880574 - 34880574

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.491T > C;p.V164A;21:34880574 - 34880574

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.806-13T >;p。?。21:34799475 - 34799475

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 未知的

c.155T >;p.M52K;21:34887039 - 34887039

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.292delC;p.L98fs * 24;21:34886902 - 34886902

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 删除——转移

c.424_425insGGG;p.S141_A142insG;21:34880640 - 34880641

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——在坐标系

c.155T >;p.M52K;21:34887039 - 34887039

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.292delC;p.L98fs * 24;21:34886902 - 34886902

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.292delC;p.L98fs * 24;21:34886902 - 34886902

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.292delC;p.L98fs * 24;21:34886902 - 34886902

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.946G >;p.E316K;21:34799322 - 34799322

 乳房 癌 替换-错义

c.571_572insA;p.R191fs * 22;21:34859515 - 34859516

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.26C >;p.S9 *;21:35048874 - 35048874

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.497_498ins9;p.R166_S167insSNR;21:34880567 - 34880568

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——在坐标系

c.703G >;p.A235T;21:34834512 - 34834512

 肺 癌;腺癌 替换-错义

c.837G >;p.W279 *;21:34799431 - 34799431

 胃 癌;腺癌 替换-胡说

c.837G >;p.W279 *;21:34799431 - 34799431

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

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