肺动脉高血压知识库(bioinfom_tsdb)
bioinfom_tsdb
肺动脉高血压知识库
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基本信息

基因身份证

84295年

的名字

PHF6

同义的

博士的手指蛋白质6;PHF6博士手指蛋白质6

定义

PHD-like锌指蛋白|着丝粒蛋白31

位置

Xq26.3

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0.49。

各种癌症的拷贝数变化

前

没有PHF6记录

宇宙体细胞突变(最高)

突变(cd;AA;科)

网站

组织学

突变类型

c.587G >;p.R196K;23:134413824 - 134413824

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.83_101 >在;p.C28fs * 2;23:134377700 - 134377718

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 复杂——转移

c.600_600delA;p.H201fs * 17;23:134413837 - 134413837

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 删除——转移

c.866C >;p.T289N;23:134417200 - 134417200

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;骨髓纤维化 替换-错义

c.821G >;p.R274Q;23:134415107 - 134415107

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.821G >;p.R274Q;23:134415107 - 134415107

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.821G >;p.R274Q;23:134415107 - 134415107

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.638G > T;p.G213V;23:134413875 - 134413875

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.902_903insA;p.Y301fs * 1;23:134417236 - 134417237

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.130A > T;p.K44 *;23:134377747 - 134377747

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-胡说

c.92T > G;p.L31 *;23:134377709 - 134377709

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-胡说

c.986A > T;p.H329L;23:134425218 - 134425218

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.719A > G;p.Y240C;23:134413956 - 134413956

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.69_70insA;p.R24fs * 12;23:134377686 - 134377687

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.941T >;p.I314N;23:134417275 - 134417275

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.91_101del11;p.L31fs * 1;23:134377708 - 134377718

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_leukaemia 删除——转移

c.396G > T;p.K132N;23:134393930 - 134393930

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.868A > T;p.I290F;23:134417202 - 134417202

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;angioimmunoblastic_T_cell_lymphoma 替换-错义

c.674G >;p.R225Q;23:134413911 - 134413911

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.871G > T;p.G291 *;23:134417205 - 134417205

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-胡说

c.730-1G > C;p。?。23:134415015 - 134415015

 卵巢 癌;serous_carcinoma 未知的

c.725G >;p.C242Y;23:134413962 - 134413962

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.725G >;p.C242Y;23:134413962 - 134413962

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.725G >;p.C242Y;23:134413962 - 134413962

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia_therapy_related 替换-错义

c.725G >;p.C242Y;23:134413962 - 134413962

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.469delA;p.S158fs * 60;23:134413541 - 134413541

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 删除——转移

c.351G > T;p.E117D;23:134393611 - 134393611

 large_intestine;结肠 癌;腺癌 替换-错义

c.5C > G;p.S2 *;23:134377622 - 134377622

 子宫内膜 癌;endometrioid_carcinoma 替换-胡说

c.955C > T;p.R319 *;23:134417289 - 134417289

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-胡说

c.955C > T;p.R319 *;23:134417289 - 134417289

 胃 癌;腺癌 替换-胡说

c.512A > T;p.N171I;23:134413584 - 134413584

 胃 癌;腺癌 替换-错义

c.955C > T;p.R319 *;23:134417289 - 134417289

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.585 + 1 g >;p。?。23:134413658 - 134413658

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.955C > T;p.R319 *;23:134417289 - 134417289

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.955C > T;p.R319 *;23:134417289 - 134417289

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.513delT;p.F172fs * 46;23:134413585 - 134413585

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 删除——转移

c.955C > T;p.R319 *;23:134417289 - 134417289

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.903C >;p.Y301 *;23:134417237 - 134417237

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.1088A > G;p.N363S;23:134425320 - 134425320

 肝 癌 替换-错义

c.1088A > G;p.N363S;23:134425320 - 134425320

 肝 癌 替换-错义

c.585 + 6 _585 + 7早期;p。?。23:134413663 - 134413664

 皮肤 malignant_melanoma 未知的

c.890G >;p.C297Y;23:134417224 - 134417224

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.414C > T;p.S138S;23:134393948 - 134393948

 upper_aerodigestive_tract;口 癌;squamous_cell_carcinoma 替换-编码沉默

c.414C > T;p.S138S;23:134393948 - 134393948

 upper_aerodigestive_tract;口 癌 替换-编码沉默

c.65_66insA;p.N23fs * 2;23:134377682 - 134377683

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.953delC;p.S318fs * 33;23:134417287 - 134417287

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.202G > T;p.E68 *;23:134378068 - 134378068

 urinary_tract;膀胱 癌 替换-胡说

c.953delC;p.S318fs * 33;23:134417287 - 134417287

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 删除——转移

c.968 + 1 _968 + 2 delgt;p。?。23:134417303 - 134417304

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 未知的

c.187G > T;p.G63C;23:134378053 - 134378053

 肺 癌;squamous_cell_carcinoma 替换-错义

c.643T > C;p.C215R;23:134413880 - 134413880

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.267_268insTTAGGACC;p.A90fs * 10;23:134393527 - 134393528

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.70A > G;p.R24G;23:134377687 - 134377687

 肺 癌;non_small_cell_carcinoma 替换-错义

c.565G >;p.E189K;23:134413637 - 134413637

 肺 癌;腺癌 替换-错义

c.415G > T;p.E139 *;23:134393949 - 134393949

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.415G > T;p.E139 *;23:134393949 - 134393949

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-胡说

c.736_737insTT;p.S246fs * 34;23:134415022 - 134415023

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.982A > T;p.N328Y;23:134425214 - 134425214

 乳房 癌 替换-错义

c.61delA;p.K21fs * 12;23:134377678 - 134377678

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 删除——转移

c.903C > T;p.Y301Y;23:134417237 - 134417237

 皮肤 malignant_melanoma 替换-编码沉默

c.1024C > T;p.R342 *;23:134425256 - 134425256

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.374 + 1 g > T;p。?。23:134393635 - 134393635

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 未知的

c.808C > T;p.Q270 *;23:134415094 - 134415094

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.374 + 1 g > T;p。?。23:134393635 - 134393635

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 未知的

c.865A > G;p.T289A;23:134417199 - 134417199

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.933_934insT;p.K312fs * 1;23:134417267 - 134417268

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.256C > T;p.H86Y;23:134393516 - 134393516

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.737C >;p.S246Y;23:134415023 - 134415023

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.1018G >;p.E340K;23:134425250 - 134425250

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;polycythaemia_vera 替换-错义

c.123_124insAGGCA;p.H42fs * 41;23:134377740 - 134377741

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.820C > T;p.R274 *;23:134415106 - 134415106

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.820C > T;p.R274 *;23:134415106 - 134415106

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.820C > T;p.R274 *;23:134415106 - 134415106

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.820C > T;p.R274 *;23:134415106 - 134415106

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.897G > T;p.K299N;23:134417231 - 134417231

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.418 + 8 G >;p。?。23:134393960 - 134393960

 肝 癌 未知的

c.308_309insA;p.Y103fs * 1;23:134393568 - 134393569

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 插入——转移

c.790G > C;p.D264H;23:134415076 - 134415076

 urinary_tract;膀胱 癌 替换-错义

c.875G > C;p.C292S;23:134417209 - 134417209

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.634_635delTG;p.C212fs * 11;23:134413871 - 134413872

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 删除——转移

c.972A > G;p.L324L;23:134425204 - 134425204

 肺 癌;腺癌 替换-编码沉默

c.356C >;p.P119H;23:134393616 - 134393616

 肾脏 癌;clear_cell_renal_cell_carcinoma 替换-错义

c.835_835delA;p.K279fs * 16;23:134417169 - 134417169

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 删除——转移

c.806T > C;p.L269P;23:134415092 - 134415092

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.720T > G;p.Y240 *;23:134413957 - 134413957

 肾脏 其他;肿瘤 替换-胡说

c.570G > T;p.M190I;23:134413642 - 134413642

 食管 癌;腺癌 替换-错义

c.833T >;p.M278K;23:134415119 - 134415119

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.554_580 > CCCGGGGA;p.H185fs * 27个;23:134413626 - 134413652

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 复杂——转移

c.375-1G >;p。?。23:134393908 - 134393908

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 未知的

c.973T > C;p.Y325H;23:134425205 - 134425205

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.374 + 1 g >;p。?。23:134393635 - 134393635

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm 未知的

c.128_129insGAGTC;p.H43fs * 40;23:134377745 - 134377746

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.673C > T;p.R225 *;23:134413910 - 134413910

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-胡说

c.673C > T;p.R225 *;23:134413910 - 134413910

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.673C > T;p.R225 *;23:134413910 - 134413910

 肝 癌;hepatocellular_carcinoma 替换-胡说

c.823G >;p.G275R;23:134415109 - 134415109

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.491A > G;p.K164R;23:134413563 - 134413563

 皮肤 malignant_melanoma 替换-错义

c.742G > T;p.G248C;23:134415028 - 134415028

 肺 癌;squamous_cell_carcinoma 替换-错义

c.17A > C;p.E6A;23:134377634 - 134377634

 胰腺 癌 替换-错义

c.567A > T;p.E189D;23:134413639 - 134413639

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.811G >;p.E271K;23:134415097 - 134415097

 皮肤;头皮 癌;squamous_cell_carcinoma 替换-错义

c.393C >;p.H131Q;23:134393927 - 134393927

 肺 癌;腺癌 替换-错义

c.385C > T;p.R129 *;23:134393919 - 134393919

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.385C > T;p.R129 *;23:134393919 - 134393919

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.385C > T;p.R129 *;23:134393919 - 134393919

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.847T >;p.C283S;23:134417181 - 134417181

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.653_667 > 13;p.G218fs * 3;23:134413890 - 134413904

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 复杂——转移

c.631A > G;p.K211E;23:134413868 - 134413868

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.409_418del10;p.N137fs * 3;23:134393943 - 134393952

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 删除——转移

c.968 + 2 _968 + 5 deltaag;p。?。23:134417304 - 134417307

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 未知的

c.586-1G > T;p。?。23:134413822 - 134413822

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 未知的

c.954A > G;p.S318S;23:134417288 - 134417288

 子宫内膜 癌;endometrioid_carcinoma 替换-编码沉默

c.916G > T;p.G306 *;23:134417250 - 134417250

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.378C > G;p.V126V;23:134393912 - 134393912

 食管 癌;腺癌 替换-编码沉默

c.525_526delGT;p.S176fs * 13;23:134413597 - 134413598

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 删除——转移

c.347G >;p.R116Q;23:134393607 - 134393607

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.129T >;p.H43Q;23:134377746 - 134377746

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.418 + 2 t > C;p。?。23:134393954 - 134393954

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm 未知的

c.347G >;p.R116Q;23:134393607 - 134393607

 乳房 癌 替换-错义

c.636_637insGGATA;p.F214fs * 1;23:134413873 - 134413874

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.418G >;p.A140T;23:134393952 - 134393952

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.407_408insT;p.N137fs * 1;23:134393941 - 134393942

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.407delA;p.H136fs * 7;23:134393941 - 134393941

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 删除——转移

c.986A > C;p.H329P;23:134425218 - 134425218

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.537C > T;p.T179T;23:134413609 - 134413609

 large_intestine;结肠 癌;腺癌 替换-编码沉默

c.457C > T;p.P153S;23:134413529 - 134413529

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.986A > G;p.H329R;23:134425218 - 134425218

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.421G >;p.D141N;23:134413493 - 134413493

 乳房 癌 替换-错义

c.986A > G;p.H329R;23:134425218 - 134425218

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.874T > C;p.C292R;23:134417208 - 134417208

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.860G > T;p.G287V;23:134417194 - 134417194

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.860G > T;p.G287V;23:134417194 - 134417194

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.415G >;p.E139K;23:134393949 - 134393949

 子宫内膜 癌;endometrioid_carcinoma 替换-错义

c.3G > C;p.M1I;23:134377620 - 134377620

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.860G > T;p.G287V;23:134417194 - 134417194

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 替换-错义

c.22_23insA;p.G10fs * 12;23:134377639 - 134377640

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.596C > G;p.S199C;23:134413833 - 134413833

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.66_69delAAAT;p.N23fs * 9;23:134377683 - 134377686

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 删除——转移

c.261T >;p.C87 *;23:134393521 - 134393521

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.943G > C;p.E315Q;23:134417277 - 134417277

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

c.2T >;p.M1K;23:134377619 - 134377619

 胰腺 癌 替换-错义

c.2T >;p.M1K;23:134377619 - 134377619

 胰腺 癌;ductal_carcinoma 替换-错义

c.892G >;p.V298I;23:134417226 - 134417226

 胃 癌;intestinal_adenocarcinoma 替换-错义

c.968 + 1 g >;p。?。23:134417303 - 134417303

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 未知的

c.978T > G;p.C326W;23:134425210 - 134425210

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.346C > T;p.R116 *;23:134393606 - 134393606

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.346C > T;p.R116 *;23:134393606 - 134393606

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.93_94insC;p.L32fs * 4;23:134377710 - 134377711

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.346C > T;p.R116 *;23:134393606 - 134393606

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.346C > T;p.R116 *;23:134393606 - 134393606

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.27_28insA;p.G10fs * 12;23:134377644 - 134377645

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;acute_myeloid_leukaemia 插入——转移

c.346C > T;p.R116 *;23:134393606 - 134393606

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.346C > T;p.R116 *;23:134393606 - 134393606

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.346C > T;p.R116 *;23:134393606 - 134393606

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.346C > T;p.R116 *;23:134393606 - 134393606

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.90_91insCCCG;p.L31fs * 6;23:134377707 - 134377708

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.786_787insT;p.D264fs * 1;23:134415072 - 134415073

 子宫内膜 癌;endometrioid_carcinoma 插入——转移

c.277G > T;p.G93C;23:134393537 - 134393537

 甲状腺 癌 替换-错义

c.730-1G > T;p。?。23:134415015 - 134415015

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 未知的

c.730-1G > T;p。?。23:134415015 - 134415015

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 未知的

c.789_790insGC;p.D264fs * 16;23:134415075 - 134415076

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.461_462delCA;p.S154fs * 3;23:134413533 - 134413534

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 删除——转移

c.807_808insGGCCCCTC;p.Q270fs * 12;23:134415093 - 134415094

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.313T > C;p.Y105H;23:134393573 - 134393573

 肝 癌 替换-错义

c.410A > G;p.N137S;23:134393944 - 134393944

 central_nervous_system;大脑 神经胶质瘤 替换-错义

c.888C > T;p.A296A;23:134417222 - 134417222

 皮肤 malignant_melanoma 替换-编码沉默

c.137 + 2 g >;p。?。23:134377756 - 134377756

 urinary_tract;膀胱 癌 未知的

c.289A > T;p.K97 *;23:134393549 - 134393549

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-胡说

c.119C > T;p.A40V;23:134377736 - 134377736

 large_intestine;结肠 NS 替换-错义

c.898A > G;p.T300A;23:134417232 - 134417232

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.76_95 > TTGG;p.K26fs * 50;23:134377693 - 134377712

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 复杂——转移

c.882A > G;p.I294M;23:134417216 - 134417216

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.834 + 1 g >;p。?。23:134415121 - 134415121

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 未知的

c.956G > T;p.R319L;23:134417290 - 134417290

 urinary_tract;膀胱 癌;transitional_cell_carcinoma 替换-错义

c.956G > T;p.R319L;23:134417290 - 134417290

 urinary_tract;膀胱 癌 替换-错义

c.834 + 1 g >;p。?。23:134415121 - 134415121

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 未知的

c.882A > G;p.I294M;23:134417216 - 134417216

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 替换-错义

c.751C >;p.Q251K;23:134415037 - 134415037

 肺 癌;腺癌 替换-错义

c.404C > T;p.A135V;23:134393938 - 134393938

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia 替换-错义

c.340_341insA;p.I115fs * 23;23:134393600 - 134393601

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.941T > C;p.I314T;23:134417275 - 134417275

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia 替换-错义

c.941T > C;p.I314T;23:134417275 - 134417275

 haematopoietic_and_lymphoid_tissue haematopoietic_neoplasm;myelodysplastic_syndrome 替换-错义

c.779_780ins11;p.D262fs * 21;23:134415065 - 134415066

 haematopoietic_and_lymphoid_tissue lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia 插入——转移

c.506A > C;p.K169T;23:134413578 - 134413578

 large_intestine 癌;腺癌 替换-错义

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