一般信息|文学|表达式|监管|变体|交互 |
基本信息 |
|
---|---|
基因身份证 |
171023年 |
的名字 |
ASXL1 |
同义的 |
额外性梳子与转录监管机构1;ASXL1;附加性梳像转录监管机构1 |
定义 |
额外性梳子1 |假定的Polycomb ASXL1组蛋白质 |
位置 |
20的事情 |
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 |
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非同义(上)和(底部)同义突变比例对各种癌症 |
前 |
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损失函数的突变与错义突变 |
前 |
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丧失突变在错义突变的比例是0.80。 |
各种癌症的拷贝数变化 |
前 |
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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) |
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突变(cd;AA;科) |
网站 |
组织学 |
突变类型 |
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c.160G > T;p.A54S;20:32369031 - 32369031 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.3379G >;p.D1127N;20:32436091 - 32436091 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 替换-错义 |
c.3379G >;p.D1127N;20:32436091 - 32436091 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.2320A > T;p.R774 *;20:32435032 - 32435032 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.396G >;p.S132S;20:32428347 - 32428347 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.3084G >;p.S1028S;20:32435796 - 32435796 |
large_intestine | 癌;腺癌 | 替换-编码沉默 |
c.3084G >;p.S1028S;20:32435796 - 32435796 |
large_intestine | 癌;腺癌 | 替换-编码沉默 |
c.396G >;p.S132S;20:32428347 - 32428347 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.3304G > T;p.E1102 *;20:32436016 - 32436016 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.1915_1941 > 18;p.T639_P647 > PPSDGS;20:32434627 - 32434653 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 复杂——删除inframe |
c.1934_1935delGT;p.G646fs * 11;20:32434646 - 32434647 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.3306G > T;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.3306G > T;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-错义 |
c.3306G > T;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia | 替换-错义 |
c.1900A > T;p.R634 *;20:32434612 - 32434612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.3306G > T;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.3306G > T;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.3658A > T;p.I1220F;20:32436370 - 32436370 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;mast_cell_neoplasm | 替换-错义 |
c.3306G > T;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.1900A > T;p.R634 *;20:32434612 - 32434612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.3306G > T;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS | 替换-错义 |
c.2502_2502delT;p.T836fs * 2;20:32435214 - 32435214 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.3306G > T;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-错义 |
c.589G >;p.G197S;20:32429924 - 32429924 |
食管 | 癌;腺癌 | 替换-错义 |
c.3306G > T;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.3306G > T;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.3306G > T;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.3306G > T;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.3306G > T;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 替换-错义 |
c.3788_3788delC;p.P1263fs * 17;20:32436500 - 32436500 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.2083_2084delCA;p.Q695fs * 22;20:32434795 - 32434796 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1710G >;p.P570P;20:32433908 - 32433908 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.2384delC;p.W796fs * 22;20:32435096 - 32435096 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.4008G >;p.G1336G;20:32436720 - 32436720 |
乳房 | 癌 | 替换-编码沉默 |
c.2431A > G;p.N811D;20:32435143 - 32435143 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.2384delC;p.W796fs * 22;20:32435096 - 32435096 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;blastic_plasmacytoid_dendritic_cell_neoplasm | 删除——转移 |
c.2883_2884delTG;p.V962fs * 7;20:32435595 - 32435596 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.433C > T;p.L145F;20:32428384 - 32428384 |
皮肤 | malignant_melanoma | 替换-错义 |
c.2302C > G;p.Q768E;20:32435014 - 32435014 |
食管 | 癌 | 替换-错义 |
c.924A > G;p.L308L;20:32431624 - 32431624 |
large_intestine | 癌;腺癌 | 替换-编码沉默 |
c.272C > G;p.S91C;20:32428147 - 32428147 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.243C > T;p.F81F;20:32369114 - 32369114 |
卵巢 | 癌;serous_carcinoma | 替换-编码沉默 |
c.3012C >;p.D1004E;20:32435724 - 32435724 |
卵巢 | 其他;肿瘤 | 替换-错义 |
c.2128delG;p.G710fs * 15;20:32434840 - 32434840 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.3012C >;p.D1004E;20:32435724 - 32435724 |
卵巢 | 其他;肿瘤 | 替换-错义 |
c.1225A > T;p.K409 *;20:32433423 - 32433423 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2058_2059delGT;p.C687fs * 30;20:32434770 - 32434771 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | 删除——转移 |
c.106C > G;p.Q36E;20:32366432 - 32366432 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.2058_2059delGT;p.C687fs * 30;20:32434770 - 32434771 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | 删除——转移 |
c.2356A > G;p.R786G;20:32435068 - 32435068 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.4189G >;p.G1397S;20:32436901 - 32436901 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.2898_2900delAGG;p.G967del;20:32435610 - 32435612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——在坐标系 |
c.3016G >;p.E1006K;20:32435728 - 32435728 |
乳房 | 癌 | 替换-错义 |
c.1612A > G;p.K538E;20:32433810 - 32433810 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.4189G >;p.G1397S;20:32436901 - 32436901 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.4189G >;p.G1397S;20:32436901 - 32436901 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-错义 |
c.2356A > G;p.R786G;20:32435068 - 32435068 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.4189G >;p.G1397S;20:32436901 - 32436901 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_primary_myelofibrosis | 替换-错义 |
c.2898_2900delAGG;p.G967del;20:32435610 - 32435612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——在坐标系 |
c.2898_2900delAGG;p.G967del;20:32435610 - 32435612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——在坐标系 |
c.2356A > G;p.R786G;20:32435068 - 32435068 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.4329_4330insT;p.L1444fs * 3;20:32437041 - 32437042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;blastic_plasmacytoid_dendritic_cell_neoplasm | 插入——转移 |
c.2898_2900delAGG;p.G967del;20:32435610 - 32435612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——在坐标系 |
c.2356A > G;p.R786G;20:32435068 - 32435068 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.2266G >;p.D756N;20:32434978 - 32434978 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1900_1901insA;p.R634fs * 24;20:32434612 - 32434613 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1671C > T;p.T557T;20:32433869 - 32433869 |
胃 | 癌;diffuse_adenocarcinoma | 替换-编码沉默 |
c.2085_2092delACTACTGC;p.Q695fs * 20;20:32434797 - 32434804 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.2201delG;p.A735fs * 9;20:32434913 - 32434913 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1888_1909del22;p.H630fs * 66;20:32434600 - 32434621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.2593G >;p.E865K;20:32435305 - 32435305 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1888_1909del22;p.H630fs * 66;20:32434600 - 32434621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.1888_1909del22;p.H630fs * 66;20:32434600 - 32434621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1888_1909del22;p.H630fs * 66;20:32434600 - 32434621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.3779G > C;p.G1260A;20:32436491 - 32436491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.2668C > T;p.L890F;20:32435380 - 32435380 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-错义 |
c.1926_1927insG;p.G646fs * 12;20:32434638 - 32434639 |
central_nervous_system;脑干 | 神经胶质瘤;astrocytoma_Grade_II | 插入——转移 |
c.1926_1927insG;p.G646fs * 12;20:32434638 - 32434639 |
central_nervous_system;脑干 | 神经胶质瘤;astrocytoma_Grade_II | 插入——转移 |
c.473C > T;p.A158V;20:32429339 - 32429339 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1926_1927insG;p.G646fs * 12;20:32434638 - 32434639 |
large_intestine;结肠 | 癌;腺癌 | 插入——转移 |
c.1926_1927insG;p.G646fs * 12;20:32434638 - 32434639 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;angioimmunoblastic_T_cell_lymphoma | 插入——转移 |
c.2704C > T;p.P902S;20:32435416 - 32435416 |
胃 | 癌;腺癌 | 替换-错义 |
c.4399C >;p.L1467I;20:32437111 - 32437111 |
胃 | 癌;腺癌 | 替换-错义 |
c.2668C > T;p.L890F;20:32435380 - 32435380 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-错义 |
c.1926_1927insG;p.G646fs * 12;20:32434638 - 32434639 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1945G > T;p.G649 *;20:32434657 - 32434657 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.3824C > G;p.S1275 *;20:32436536 - 32436536 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | 替换-胡说 |
c.473C > T;p.A158V;20:32429339 - 32429339 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1926_1927insG;p.G646fs * 12;20:32434638 - 32434639 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.4488C > G;p.S1496R;20:32437200 - 32437200 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.604_605CC TT >;p.P202L;20:32429939 - 32429940 |
皮肤;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.166C >;p.L56I;20:32369037 - 32369037 |
胃 | 癌;腺癌 | 替换-错义 |
c.4099G >;p.V1367I;20:32436811 - 32436811 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.2332C > T;p.Q778 *;20:32435044 - 32435044 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.74C > T;p.S25L;20:32366400 - 32366400 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.2332C > T;p.Q778 *;20:32435044 - 32435044 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2332C > T;p.Q778 *;20:32435044 - 32435044 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.1880C > T;p.A627V;20:32434592 - 32434592 |
胃 | 癌;腺癌 | 替换-错义 |
c.2423_2424insC;p.A809fs * 13;20:32435135 - 32435136 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.2395G >;p.D799N;20:32435107 - 32435107 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.2242C > T;p.Q748 *;20:32434954 - 32434954 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.2592C > T;p.D864D;20:32435304 - 32435304 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-编码沉默 |
c.1125G > T;p.V375V;20:32433323 - 32433323 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.2348_2349insT;p.D784fs * 3;20:32435060 - 32435061 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.2541_2541delC;p.T848fs * 19;20:32435253 - 32435253 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1924G > T;p.G642 *;20:32434636 - 32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.4078C > T;p.P1360S;20:32436790 - 32436790 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.2506A > C;p.T836P;20:32435218 - 32435218 |
食管 | 癌;腺癌 | 替换-错义 |
c.2242C > T;p.Q748 *;20:32434954 - 32434954 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.359G >;p.S120N;20:32428234 - 32428234 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.2541_2541delC;p.T848fs * 19;20:32435253 - 32435253 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2331_2332insGGAG;p.Q778fs * 10;20:32435043 - 32435044 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1452G > C;p.E484D;20:32433650 - 32433650 |
胃 | 癌;腺癌 | 替换-错义 |
c.2357G > T;p.R786I;20:32435069 - 32435069 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.4243C > T;p.R1415 *;20:32436955 - 32436955 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.462T > C;p.A154A;20:32428413 - 32428413 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-编码沉默 |
c.4520C > T;p.A1507V;20:32437232 - 32437232 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.163T >;p.C55S;20:32369034 - 32369034 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;plasma_cell_myeloma | 替换-错义 |
c.4243C > T;p.R1415 *;20:32436955 - 32436955 |
large_intestine;盲肠 | 癌;腺癌 | 替换-胡说 |
c.673C > T;p.Q225 *;20:32430008 - 32430008 |
urinary_tract;膀胱 | 癌 | 替换-胡说 |
c.1157_1160delTGTG;p.C387fs * 74;20:32433355 - 32433358 |
haematopoietic_and_lymphoid_tissue;皮肤 | haematopoietic_neoplasm;blastic_plasmacytoid_dendritic_cell_neoplasm | 删除——转移 |
c.1161T >;p.C387 *;20:32433359 - 32433359 |
haematopoietic_and_lymphoid_tissue;皮肤 | haematopoietic_neoplasm;blastic_plasmacytoid_dendritic_cell_neoplasm | 替换-胡说 |
c.1803delG;p.E602fs * 101;20:32434515 - 32434515 |
肾脏 | Wilms_tumour | 删除——转移 |
c.831A > G;p.P277P;20:32431433 - 32431433 |
肝 | 癌 | 替换-编码沉默 |
c.4031C > T;p.S1344F;20:32436743 - 32436743 |
皮肤 | malignant_melanoma | 替换-错义 |
c.2464_2465insA;p.T822fs * 11;20:32435176 - 32435177 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.2944_2944delA;p.K982fs * 2;20:32435656 - 32435656 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_myeloproliferative_neoplasm | 删除——转移 |
c.1565A > T;p.Q522L;20:32433763 - 32433763 |
甲状腺 | 其他;肿瘤 | 替换-错义 |
c.3934G > T;p.A1312S;20:32436646 - 32436646 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.1899_1921del23;p.E635fs * 15;20:32434611 - 32434633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_primary_myelofibrosis | 删除——转移 |
c.1249C > T;p.R417 *;20:32433447 - 32433447 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2475_2476insA;p.G826fs * 7;20:32435187 - 32435188 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1249C > T;p.R417 *;20:32433447 - 32433447 |
soft_tissue;blood_vessel | 血管肉瘤 | 替换-胡说 |
c.1899_1921del23;p.E635fs * 15;20:32434611 - 32434633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.2536A > C;p.S846R;20:32435248 - 32435248 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1957_1964delGGGGCCAC;p.G653fs * 2;20:32434669 - 32434676 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1249C > T;p.R417 *;20:32433447 - 32433447 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.1899_1921del23;p.E635fs * 15;20:32434611 - 32434633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.1859_1859delG;p.R620fs * 83;20:32434571 - 32434571 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1249C > T;p.R417 *;20:32433447 - 32433447 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable | 替换-胡说 |
c.1249C > T;p.R417 *;20:32433447 - 32433447 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.2324_2324delT;p.L775fs * 1;20:32435036 - 32435036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2387G > T;p.W796L;20:32435099 - 32435099 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.2190C >;p.C730 *;20:32434902 - 32434902 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.2324_2324delT;p.L775fs * 1;20:32435036 - 32435036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.3214G >;p.V1072I;20:32435926 - 32435926 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.1062C >;p.F354L;20:32432962 - 32432962 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.1835G > T;p.R612M;20:32434547 - 32434547 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.2577_2577delC;p.N859fs * 8;20:32435289 - 32435289 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.2467delT;p.L823fs * 1;20:32435179 - 32435179 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 删除——转移 |
c.2175A > G;p.R725R;20:32434887 - 32434887 |
乳房 | 癌 | 替换-编码沉默 |
c.2537G >;p.S846N;20:32435249 - 32435249 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.1863_1873del11;p.L622fs * 9;20:32434575 - 32434585 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 删除——转移 |
c.1900_1921del22;p.R634fs * 62;20:32434612 - 32434633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 删除——转移 |
c.1863_1873del11;p.L622fs * 9;20:32434575 - 32434585 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1197A > T;p.P399P;20:32433395 - 32433395 |
食管 | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.2290_2291insC;p.L764fs * 10;20:32435002 - 32435003 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.3010G >;p.D1004N;20:32435722 - 32435722 |
胃 | 癌;腺癌 | 替换-错义 |
c.2034G > T;p.R678S;20:32434746 - 32434746 |
胰腺 | 癌 | 替换-错义 |
c.2518C > T;p.P840S;20:32435230 - 32435230 |
皮肤 | malignant_melanoma | 替换-错义 |
c.4471C > T;p.Q1491 *;20:32437183 - 32437183 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.4090G > C;p.V1364L;20:32436802 - 32436802 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.2580_2581delAG;p.R860fs * 3;20:32435292 - 32435293 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.2057_2058insA;p.C687fs * 31;20:32434769 - 32434770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1279A > T;p.K427 *;20:32433477 - 32433477 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 替换-胡说 |
c.1732C > T;p.R578C;20:32434444 - 32434444 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.486G >;p.K162K;20:32429352 - 32429352 |
甲状腺 | 其他;肿瘤 | 替换-编码沉默 |
c.1633_1634insC;p.R545fs * 6;20:32433831 - 32433832 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1815C >;p.C605 *;20:32434527 - 32434527 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.2561C >;p.T854N;20:32435273 - 32435273 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-错义 |
c.4314G > T;p.Q1438H;20:32437026 - 32437026 |
肺;right_upper_lobe | 癌;腺癌 | 替换-错义 |
c.1492G > T;p.A498S;20:32433690 - 32433690 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.1492G > T;p.A498S;20:32433690 - 32433690 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.3102A > G;p.K1034K;20:32435814 - 32435814 |
large_intestine | 癌;腺癌 | 替换-编码沉默 |
c.3506_3507insT;p.L1170fs * 12;20:32436218 - 32436219 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;blastic_plasmacytoid_dendritic_cell_neoplasm | 插入——转移 |
c.2125G >;p.A709T;20:32434837 - 32434837 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.1918_1928del11;p.A640fs * 14;20:32434630 - 32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1534C > T;p.Q512 *;20:32433732 - 32433732 |
乳房 | 癌 | 替换-胡说 |
c.1534C > T;p.Q512 *;20:32433732 - 32433732 |
urinary_tract;膀胱 | 癌 | 替换-胡说 |
c.1918_1928del11;p.A640fs * 14;20:32434630 - 32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.2100T >;p.Y700 *;20:32434812 - 32434812 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.1896C >;p.C632 *;20:32434608 - 32434608 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.4394A > G;p.K1465R;20:32437106 - 32437106 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.3100A > G;p.K1034E;20:32435812 - 32435812 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.3002_3011CAGCCTCTGA > TAGGC;p.T1001fs * 4;20:32435714 - 32435723 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 复杂——转移 |
c.124G >;p.G42R;20:32366450 - 32366450 |
乳房 | 癌 | 替换-错义 |
c.2250delC;p.V751fs * 21;20:32434962 - 32434962 |
前列腺癌 | 癌 | 删除——转移 |
c.2357G >;p.R786K;20:32435069 - 32435069 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.3828_3828delT;p.P1277fs * 3;20:32436540 - 32436540 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.2707_2708insC;p.N904fs * 2;20:32435419 - 32435420 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1900A > CGGAG;p.E635fs * 24;20:32434612 - 32434612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 复杂——转移 |
c.4127_4128insG;p.P1377fs * 3;20:32436839 - 32436840 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.4127_4128insG;p.P1377fs * 3;20:32436839 - 32436840 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.4127_4128insG;p.P1377fs * 3;20:32436839 - 32436840 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1787delG;p.I597fs * 106;20:32434499 - 32434499 |
soft_tissue;blood_vessel | 血管肉瘤 | 删除——转移 |
c.2746A > T;p.R916 *;20:32435458 - 32435458 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.3399C > T;p.S1133S;20:32436111 - 32436111 |
皮肤 | malignant_melanoma | 替换-编码沉默 |
c.1850_1851insA;p.K618fs * 1;20:32434562 - 32434563 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.4001C > T;p.P1334L;20:32436713 - 32436713 |
皮肤 | malignant_melanoma | 替换-错义 |
c.3306G > C;p.E1102D;20:32436018 - 32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.427C > T;p.R143 *;20:32428378 - 32428378 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.3259T > C;p.Y1087H;20:32435971 - 32435971 |
肺 | 癌;腺癌 | 替换-错义 |
c.2893C > T;p.R965 *;20:32435605 - 32435605 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.2893C > T;p.R965 *;20:32435605 - 32435605 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 替换-胡说 |
c.3965C > G;p.P1322R;20:32436677 - 32436677 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.2893C > T;p.R965 *;20:32435605 - 32435605 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2893C > T;p.R965 *;20:32435605 - 32435605 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.3965C > G;p.P1322R;20:32436677 - 32436677 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.2893C > T;p.R965 *;20:32435605 - 32435605 |
large_intestine;盲肠 | 癌;腺癌 | 替换-胡说 |
c.2893C > T;p.R965 *;20:32435605 - 32435605 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.1898_1899insA;p.H633fs * 2;20:32434610 - 32434611 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1542T > C;p.T514T;20:32433740 - 32433740 |
肝 | 癌 | 替换-编码沉默 |
c.1542T > C;p.T514T;20:32433740 - 32433740 |
肝 | 癌 | 替换-编码沉默 |
c.1589C >;p.A530E;20:32433787 - 32433787 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.1915_1978 > 13;p.T639_G659 > PPWD;20:32434627 - 32434690 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 复杂——删除inframe |
c.2484C > T;p.G828G;20:32435196 - 32435196 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.2756_2757insACCA;p.S921fs * 4;20:32435468 - 32435469 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1537G > T;p.E513 *;20:32433735 - 32433735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2094G > T;p.P698P;20:32434806 - 32434806 |
肺;middle_lobe | 癌;腺癌 | 替换-编码沉默 |
c.481C >;p.Q161K;20:32429347 - 32429347 |
甲状腺 | 其他;肿瘤 | 替换-错义 |
c.555A > G;p.E185E;20:32429421 - 32429421 |
卵巢 | 癌;serous_carcinoma | 替换-编码沉默 |
c.2011_2012insGGTGAGG;p.A671fs * 2;20:32434723 - 32434724 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.3139A > T;p.N1047Y;20:32435851 - 32435851 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.1552G > T;p.E518 *;20:32433750 - 32433750 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | 替换-胡说 |
c.3269G > C;p.R1090T;20:32435981 - 32435981 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.1851_1852insT;p.K618fs * 1;20:32434563 - 32434564 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1552G > T;p.E518 *;20:32433750 - 32433750 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | 替换-胡说 |
c.1851_1852insT;p.K618fs * 1;20:32434563 - 32434564 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1816C > T;p.R606W;20:32434528 - 32434528 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemia_of_ambiguous_lineage | 替换-错义 |
c.2957A > G;p.N986S;20:32435669 - 32435669 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.3416C >;p.T1139K;20:32436128 - 32436128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.1935_1936insT;p.G646fs * 12;20:32434647 - 32434648 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.2957A > G;p.N986S;20:32435669 - 32435669 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.2302C > T;p.Q768 *;20:32435014 - 32435014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.2755A > G;p.I919V;20:32435467 - 32435467 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.2302C > T;p.Q768 *;20:32435014 - 32435014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.1935_1936insT;p.G646fs * 12;20:32434647 - 32434648 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.2957A > G;p.N986S;20:32435669 - 32435669 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.1935_1936insT;p.G646fs * 12;20:32434647 - 32434648 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1700C > T;p.P567L;20:32433898 - 32433898 |
皮肤 | malignant_melanoma | 替换-错义 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.160G >;p.A54T;20:32369031 - 32369031 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;juvenile_myelomonocytic_leukaemia | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_primary_myelofibrosis | 替换-胡说 |
c.3843C > T;p.S1281S;20:32436555 - 32436555 |
皮肤 | malignant_melanoma | 替换-编码沉默 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.2077C > T;p.R693 *;20:32434789 - 32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.2358A > G;p.R786R;20:32435070 - 32435070 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.4146C > T;p.A1382A;20:32436858 - 32436858 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.2057_2058insAAAG;p.C687fs * 32;20:32434769 - 32434770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.4146C > T;p.A1382A;20:32436858 - 32436858 |
皮肤 | malignant_melanoma | 替换-编码沉默 |
c.2358A > G;p.R786R;20:32435070 - 32435070 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.804C > T;p.I268I;20:32431406 - 32431406 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-编码沉默 |
c.1915_1928del14;p.T639fs * 14;20:32434627 - 32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.1910_1932del23;p.A637fs * 13;20:32434622 - 32434644 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 删除——转移 |
c.1774C > T;p.Q592 *;20:32434486 - 32434486 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.1926_1926delA;p.G645fs * 58;20:32434638 - 32434638 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1774C > T;p.Q592 *;20:32434486 - 32434486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.1774C > T;p.Q592 *;20:32434486 - 32434486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.4411G >;p.V1471M;20:32437123 - 32437123 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1645delC;p.R549fs * 154;20:32433843 - 32433843 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.2463_2464insA;p.T822fs * 11;20:32435175 - 32435176 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;blastic_plasmacytoid_dendritic_cell_neoplasm | 插入——转移 |
c.1774C > T;p.Q592 *;20:32434486 - 32434486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.1937_1938insG;p.G649fs * 9;20:32434649 - 32434650 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 插入——转移 |
c.1937_1938insG;p.G649fs * 9;20:32434649 - 32434650 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 插入——转移 |
c.4042G >;p.G1348R;20:32436754 - 32436754 |
肺 | 癌;large_cell_carcinoma | 替换-错义 |
c.3966G > T;p.P1322P;20:32436678 - 32436678 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-编码沉默 |
c.3595G >;p.A1199T;20:32436307 - 32436307 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.930C > T;p.N310N;20:32431630 - 32431630 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.1934_1934delG;p.G645fs * 58;20:32434646 - 32434646 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.1256G >;p.R419K;20:32433454 - 32433454 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.1934_1934delG;p.G645fs * 58;20:32434646 - 32434646 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.1934_1934delG;p.G645fs * 58;20:32434646 - 32434646 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.1934_1934delG;p.G645fs * 58;20:32434646 - 32434646 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.2535_2535delC;p.S846fs * 21;20:32435247 - 32435247 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;juvenile_myelomonocytic_leukaemia | 删除——转移 |
c.2407C > T;p.Q803 *;20:32435119 - 32435119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2407C > T;p.Q803 *;20:32435119 - 32435119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.1934_1934delG;p.G645fs * 58;20:32434646 - 32434646 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.961C > T;p.R321W;20:32431661 - 32431661 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.2922C > G;p.Y974 *;20:32435634 - 32435634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;polycythaemia_vera | 替换-胡说 |
c.1723C > T;p.Q575 *;20:32434435 - 32434435 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.3149T > C;p.M1050T;20:32435861 - 32435861 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.2922C > G;p.Y974 *;20:32435634 - 32435634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;essential_thrombocythaemia | 替换-胡说 |
c.3218G > T;p.R1073L;20:32435930 - 32435930 |
皮肤 | malignant_melanoma | 替换-错义 |
c.3764C > G;p.S1255 *;20:32436476 - 32436476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.1903_1925del23;p.E635fs * 15;20:32434615 - 32434637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_myeloproliferative_neoplasm | 删除——转移 |
c.2535_2536insC;p.S846fs * 5;20:32435247 - 32435248 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.619A > G;p.S207G;20:32429954 - 32429954 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.3121G >;p.A1041T;20:32435833 - 32435833 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.4144G > T;p.A1382S;20:32436856 - 32436856 |
肺 | 癌;腺癌 | 替换-错义 |
c.2572C > T;p.Q858 *;20:32435284 - 32435284 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2921_2922insTCTT;p.C975fs * 8;20:32435633 - 32435634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.2316_2317insT;p.E773fs * 1;20:32435028 - 32435029 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1772_1773insA;p.Y591fs * 1;20:32434484 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1772_1773insA;p.Y591fs * 1;20:32434484 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1772_1773insA;p.Y591fs * 1;20:32434484 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;mast_cell_neoplasm | 插入——转移 |
c.1190_1191insG;p.G398fs * 12;20:32433388 - 32433389 |
卵巢 | 癌;small_cell_carcinoma | 插入——转移 |
c.2848_2848delC;p.L950fs * 1;20:32435560 - 32435560 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1772_1773insA;p.Y591fs * 1;20:32434484 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1772_1773insA;p.Y591fs * 1;20:32434484 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_primary_myelofibrosis | 插入——转移 |
c.2254_2255insG;p.A752fs * 22;20:32434966 - 32434967 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1772_1773insA;p.Y591fs * 1;20:32434484 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.2254_2255insG;p.A752fs * 22;20:32434966 - 32434967 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1772_1773insA;p.Y591fs * 1;20:32434484 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_neutrophilic_leukaemia | 插入——转移 |
c.1772_1773insA;p.Y591fs * 1;20:32434484 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.3739C > T;p.R1247C;20:32436451 - 32436451 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.2254_2255insG;p.A752fs * 22;20:32434966 - 32434967 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1772_1773insA;p.Y591fs * 1;20:32434484 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.3594A > G;p.G1198G;20:32436306 - 32436306 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.1772_1773insA;p.Y591fs * 1;20:32434484 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1772_1773insA;p.Y591fs * 1;20:32434484 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.2387G >;p.W796 *;20:32435099 - 32435099 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.3380A > G;p.D1127G;20:32436092 - 32436092 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.4022G >;p.S1341N;20:32436734 - 32436734 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.3380A > G;p.D1127G;20:32436092 - 32436092 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.1830C > T;p.G610G;20:32434542 - 32434542 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-编码沉默 |
c.2525_2525delA;p.N842fs * 2;20:32435237 - 32435237 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2387G >;p.W796 *;20:32435099 - 32435099 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2387G >;p.W796 *;20:32435099 - 32435099 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2325A > G;p.L775L;20:32435037 - 32435037 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.1830C > T;p.G610G;20:32434542 - 32434542 |
central_nervous_system;大脑 | primitive_neuroectodermal_tumour-medulloblastoma | 替换-编码沉默 |
c.1830C > T;p.G610G;20:32434542 - 32434542 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-编码沉默 |
c.1830C > T;p.G610G;20:32434542 - 32434542 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-编码沉默 |
c.1830C > T;p.G610G;20:32434542 - 32434542 |
乳房 | 癌 | 替换-编码沉默 |
c.1830C > T;p.G610G;20:32434542 - 32434542 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-编码沉默 |
c.1830C > T;p.G610G;20:32434542 - 32434542 |
central_nervous_system;大脑 | 神经胶质瘤;astrocytoma_Grade_IV | 替换-编码沉默 |
c.2555C >;p.S852 *;20:32435267 - 32435267 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.4568G > C;p.C1523S;20:32437280 - 32437280 |
前列腺癌 | 腺瘤 | 替换-错义 |
c.2641_2642insA;p.R881fs * 13;20:32435353 - 32435354 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.2083C > T;p.Q695 *;20:32434795 - 32434795 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2598A > G;p.L866L;20:32435310 - 32435310 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 替换-编码沉默 |
c.2757_2758insA;p.P920fs * 4;20:32435469 - 32435470 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;mast_cell_neoplasm | 插入——转移 |
c.2598A > G;p.L866L;20:32435310 - 32435310 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia | 替换-编码沉默 |
c.3966G >;p.P1322P;20:32436678 - 32436678 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.3319C > T;p.L1107F;20:32436031 - 32436031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.1769_1770insT;p.Y591fs * 28;20:32434481 - 32434482 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;essential_thrombocythaemia | 插入——转移 |
c.1902_1924del23;p.E635fs * 15;20:32434614 - 32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 删除——转移 |
c.4175C > T;p.P1392L;20:32436887 - 32436887 |
皮肤 | malignant_melanoma | 替换-错义 |
c.3966G >;p.P1322P;20:32436678 - 32436678 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.3319C > T;p.L1107F;20:32436031 - 32436031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.1902_1924del23;p.E635fs * 15;20:32434614 - 32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.3319C > T;p.L1107F;20:32436031 - 32436031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.3966G >;p.P1322P;20:32436678 - 32436678 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.3759T > C;p.S1253S;20:32436471 - 32436471 |
biliary_tract;胆囊 | 癌;腺癌 | 替换-编码沉默 |
c.1902_1924del23;p.E635fs * 15;20:32434614 - 32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1902_1924del23;p.E635fs * 15;20:32434614 - 32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 删除——转移 |
c.3935C >;p.A1312E;20:32436647 - 32436647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.1779_1780insA;p.C594fs * 25;20:32434491 - 32434492 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.3319C > T;p.L1107F;20:32436031 - 32436031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.3759T > C;p.S1253S;20:32436471 - 32436471 |
甲状腺 | 其他;肿瘤 | 替换-编码沉默 |
c.1861G > T;p.A621S;20:32434573 - 32434573 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.1902_1924del23;p.E635fs * 15;20:32434614 - 32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 删除——转移 |
c.1902_1924del23;p.E635fs * 15;20:32434614 - 32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 删除——转移 |
c.1902_1924del23;p.E635fs * 15;20:32434614 - 32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.3966G >;p.P1322P;20:32436678 - 32436678 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.2310_2311delAG;p.V771fs * 2;20:32435022 - 32435023 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1438G > T;p.E480 *;20:32433636 - 32433636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.1438G > T;p.E480 *;20:32433636 - 32433636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.2066C > G;p.S689 *;20:32434778 - 32434778 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.2265G > T;p.G755G;20:32434977 - 32434977 |
肺;right_upper_lobe | 癌;腺癌 | 替换-编码沉默 |
c.4127G >;p.G1376D;20:32436839 - 32436839 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.1876_1885del10;p.G626fs * 74;20:32434588 - 32434597 |
子宫内膜 | 癌;endometrioid_carcinoma | 删除——转移 |
c.2988_2989insT;p.E997fs * 1;20:32435700 - 32435701 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.3203G > T;p.R1068L;20:32435915 - 32435915 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1763A > G;p.Q588R;20:32434475 - 32434475 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.4282T > C;p.S1428P;20:32436994 - 32436994 |
乳房 | 癌 | 替换-错义 |
c.1763A > G;p.Q588R;20:32434475 - 32434475 |
肺 | 癌;腺癌 | 替换-错义 |
c.1915_1932 > 19;p.T639fs * 19;20:32434627 - 32434644 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 复杂——转移 |
c.3203G >;p.R1068Q;20:32435915 - 32435915 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.2314G >;p.A772T;20:32435026 - 32435026 |
皮肤;树干 | malignant_melanoma | 替换-错义 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1356G >;p.G452G;20:32433554 - 32433554 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1927_1928insA;p.G643fs * 15;20:32434639 - 32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1927_1928insA;p.G643fs * 15;20:32434639 - 32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.3941delT;p.Q1315fs * 135;20:32436653 - 32436653 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.2388G > T;p.W796C;20:32435100 - 32435100 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1488C > G;p.N496K;20:32433686 - 32433686 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2388G > T;p.W796C;20:32435100 - 32435100 |
large_intestine;结肠 | 癌 | 替换-错义 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1488C > G;p.N496K;20:32433686 - 32433686 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.1927_1928insA;p.G643fs * 15;20:32434639 - 32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1900_1922del23;p.E635fs * 15;20:32434612 - 32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.2491C > T;p.L831F;20:32435203 - 32435203 |
皮肤;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.2894_2896delGAG;p.G967delG;20:32435606 - 32435608 |
骨 | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | 删除——在坐标系 |
c.1979G >;p.G660D;20:32434691 - 32434691 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.2894_2896delGAG;p.G967delG;20:32435606 - 32435608 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——在坐标系 |
c.1879_1880insG;p.A627fs * 8;20:32434591 - 32434592 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.3682G > T;p.E1228 *;20:32436394 - 32436394 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-胡说 |
c.3682G > T;p.E1228 *;20:32436394 - 32436394 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.2179G >;p.E727K;20:32434891 - 32434891 |
NS | malignant_melanoma | 替换-错义 |
c.2226G > C;p.G742G;20:32434938 - 32434938 |
甲状腺 | 癌 | 替换-编码沉默 |
c.4032C > T;p.S1344S;20:32436744 - 32436744 |
皮肤 | malignant_melanoma | 替换-编码沉默 |
c.1786_1787insC;p.R596fs * 23;20:32434498 - 32434499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.2388G >;p.W796 *;20:32435100 - 32435100 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia | 替换-胡说 |
c.246G >;p.T82T;20:32369117 - 32369117 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-编码沉默 |
c.3817C > T;p.R1273C;20:32436529 - 32436529 |
皮肤 | malignant_melanoma | 替换-错义 |
c.2047A > G;p.T683A;20:32434759 - 32434759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.2786A > GG;p.E929fs * 19;20:32435498 - 32435498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 复杂——转移 |
c.3817C > T;p.R1273C;20:32436529 - 32436529 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.4016G >;p.G1339E;20:32436728 - 32436728 |
乳房 | 癌 | 替换-错义 |
c.2507_2507delC;p.T836fs * 2;20:32435219 - 32435219 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.1927_1928insG;p.G646fs * 12;20:32434639 - 32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.3110G >;p.W1037 *;20:32435822 - 32435822 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.3740G >;p.R1247H;20:32436452 - 32436452 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.2639C > G;p.T880S;20:32435351 - 32435351 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.3148A > G;p.M1050V;20:32435860 - 32435860 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.1636C >;p.Q546K;20:32433834 - 32433834 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.2638_2639insA;p.T880fs * 2;20:32435350 - 32435351 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.2597T > G;p.L866 *;20:32435309 - 32435309 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2989G > T;p.E997 *;20:32435701 - 32435701 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-胡说 |
c.2486A > G;p.Q829R;20:32435198 - 32435198 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1719G >;p.R573R;20:32433917 - 32433917 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.3512delG;p.A1172fs * 2;20:32436224 - 32436224 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.565 + 1 g >;p。?。20:32429432 - 32429432 |
肺 | 癌;squamous_cell_carcinoma | 未知的 |
c.4242C > T;p.P1414P;20:32436954 - 32436954 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.3574G > T;p.E1192 *;20:32436286 - 32436286 |
肝 | 癌;hepatocellular_carcinoma | 替换-胡说 |
c.4237T > G;p.L1413V;20:32436949 - 32436949 |
前列腺癌 | 癌;腺癌 | 替换-错义 |
c.2409A > G;p.Q803Q;20:32435121 - 32435121 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.2122C > T;p.Q708 *;20:32434834 - 32434834 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;essential_thrombocythaemia | 替换-胡说 |
c.2122C > T;p.Q708 *;20:32434834 - 32434834 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 替换-胡说 |
c.2122C > T;p.Q708 *;20:32434834 - 32434834 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 替换-胡说 |
c.718 + 10 g >;p。?。20:32430063 - 32430063 |
central_nervous_system;脑干 | primitive_neuroectodermal_tumour-medulloblastoma;WNT_subtype | 未知的 |
c.2409A > G;p.Q803Q;20:32435121 - 32435121 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.2409A > G;p.Q803Q;20:32435121 - 32435121 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.2498_2501delGTCA;p.S833fs * 4;20:32435210 - 32435213 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 删除——转移 |
c.2346_2374del29;p.H782fs * 8;20:32435058 - 32435086 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2498_2501delGTCA;p.S833fs * 4;20:32435210 - 32435213 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 删除——转移 |
c.3626G >;p.S1209N;20:32436338 - 32436338 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1698G >;p.E566E;20:32433896 - 32433896 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.3851C > G;p.P1284R;20:32436563 - 32436563 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.1911_1912insC;p.T638fs * 20;20:32434623 - 32434624 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.3047C > T;p.A1016V;20:32435759 - 32435759 |
乳房 | 癌 | 替换-错义 |
c.2587G > C;p.D863H;20:32435299 - 32435299 |
乳房 | 癌 | 替换-错义 |
c.2110delG;p.E705fs * 20;20:32434822 - 32434822 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.1949G >;p.G650D;20:32434661 - 32434661 |
肺;right_upper_lobe | 癌;腺癌 | 替换-错义 |
c.2254_2255GC > T;p.A752fs * 20;20:32434966 - 32434967 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 复杂——转移 |
c.2813C > G;p.P938R;20:32435525 - 32435525 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.2118_2119delTA;p.T707fs * 10;20:32434830 - 32434831 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_polycythaemia_vera | 删除——转移 |
c.1634G > C;p.R545P;20:32433832 - 32433832 |
肺 | 癌;腺癌 | 替换-错义 |
c.2071C > T;p.L691L;20:32434783 - 32434783 |
肺 | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.1210C > T;p.R404 *;20:32433408 - 32433408 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_essential_thrombocythaemia | 替换-胡说 |
c.404C >;p.S135Y;20:32428355 - 32428355 |
肺 | 癌;腺癌 | 替换-错义 |
c.2285_2286insT;p.L762fs * 12;20:32434997 - 32434998 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_essential_thrombocythaemia | 插入——转移 |
c.2285_2286insT;p.L762fs * 12;20:32434997 - 32434998 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_primary_myelofibrosis | 插入——转移 |
c.1926_1927insA;p.G643fs * 15;20:32434638 - 32434639 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1926_1927insA;p.G643fs * 15;20:32434638 - 32434639 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1210C > T;p.R404 *;20:32433408 - 32433408 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.1782C >;p.C594 *;20:32434494 - 32434494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.1782C >;p.C594 *;20:32434494 - 32434494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.1782C >;p.C594 *;20:32434494 - 32434494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.1998_1999delTG;p.D667fs * 3;20:32434710 - 32434711 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1976G >;p.G659D;20:32434688 - 32434688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.2674T > G;p.S892A;20:32435386 - 32435386 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.634C > T;p.L212L;20:32429969 - 32429969 |
食道;middle_third | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.2153delG;p.R718fs * 7;20:32434865 - 32434865 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2560A > T;p.T854S;20:32435272 - 32435272 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.2869A > T;p.T957S;20:32435581 - 32435581 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 替换-错义 |
c.3806C > T;p.S1269L;20:32436518 - 32436518 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.3797_3812del16;p.L1266fs * 9;20:32436509 - 32436524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.241T > C;p.F81L;20:32369112 - 32369112 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.2873C > T;p.S958L;20:32435585 - 32435585 |
皮肤 | malignant_melanoma | 替换-错义 |
c.2869A > T;p.T957S;20:32435581 - 32435581 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.2117_2118insA;p.H706fs * 12;20:32434829 - 32434830 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;polycythaemia_vera | 插入——转移 |
c.3743C > T;p.A1248V;20:32436455 - 32436455 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.4364_4364delA;p.N1455fs * 20;20:32437076 - 32437076 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.2647G > T;p.E883 *;20:32435359 - 32435359 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.3931G >;p.A1311T;20:32436643 - 32436643 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.3911T >;p.L1304H;20:32436623 - 32436623 |
胰腺 | 癌 | 替换-错义 |
c.3911T >;p.L1304H;20:32436623 - 32436623 |
胰腺 | 癌 | 替换-错义 |
c.2131A > G;p.T711A;20:32434843 - 32434843 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.4119T > C;p.F1373F;20:32436831 - 32436831 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.2324T >;p.L775 *;20:32435036 - 32435036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;polycythaemia_vera | 替换-胡说 |
c.1850T > C;p.I617T;20:32434562 - 32434562 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.327G > T;p.E109D;20:32428202 - 32428202 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.2030_2046del17;p.P677fs * 35;20:32434742 - 32434758 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.2026G > T;p.E676 *;20:32434738 - 32434738 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.1867C > T;p.Q623 *;20:32434579 - 32434579 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;polycythaemia_vera | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.2878_2879delTG;p.W960fs * 9;20:32435590 - 32435591 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1320A > G;p.K440K;20:32433518 - 32433518 |
乳房 | 癌 | 替换-编码沉默 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_primary_myelofibrosis | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;essential_thrombocythaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.4261C > T;p.L1421F;20:32436973 - 32436973 |
肺;right_upper_lobe | 癌;腺癌 | 替换-错义 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_primary_myelofibrosis | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
large_intestine;结肠 | 癌;腺癌 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_neutrophilic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;polycythaemia_vera | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_neutrophilic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.2212delG;p.G738fs * 6;20:32434924 - 32434924 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.1934_1935insG;p.G646fs * 12;20:32434646 - 32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.2654_2655insGAAAACTT;p.K888fs * 1;20:32435366 - 32435367 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1500C > T;p.A500A;20:32433698 - 32433698 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.1969G > T;p.E657 *;20:32434681 - 32434681 |
central_nervous_system;大脑 | primitive_neuroectodermal_tumour-medulloblastoma | 替换-胡说 |
c.1969G > T;p.E657 *;20:32434681 - 32434681 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.2530_2531insC;p.S846fs * 5;20:32435242 - 32435243 |
large_intestine;盲肠 | 癌;腺癌 | 插入——转移 |
c.2530_2531insC;p.S846fs * 5;20:32435242 - 32435243 |
large_intestine;结肠 | 癌;腺癌 | 插入——转移 |
c.3503G > C;p.S1168T;20:32436215 - 32436215 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.2530_2531insC;p.S846fs * 5;20:32435242 - 32435243 |
large_intestine;盲肠 | 癌;腺癌 | 插入——转移 |
c.488A > C;p.K163T;20:32429354 - 32429354 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.1969G > T;p.E657 *;20:32434681 - 32434681 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.2530_2531insC;p.S846fs * 5;20:32435242 - 32435243 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1260C > T;p.A420A;20:32433458 - 32433458 |
前列腺癌 | 癌;腺癌 | 替换-编码沉默 |
c.2210T > C;p.V737A;20:32434922 - 32434922 |
biliary_tract;胆囊 | 癌;腺癌 | 替换-错义 |
c.1238G >;p.R413Q;20:32433436 - 32433436 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.2429_2429delA;p.D810fs * 8;20:32435209 - 32435209 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.1776_1840del65;p.Q592fs * 5;20:32434488 - 32434552 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2324T > G;p.L775 *;20:32435036 - 32435036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.1322C > T;p.S441F;20:32433520 - 32433520 |
皮肤;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.460G > C;p.A154P;20:32428411 - 32428411 |
肝 | 癌 | 替换-错义 |
c.2324T > G;p.L775 *;20:32435036 - 32435036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;juvenile_myelomonocytic_leukaemia | 替换-胡说 |
c.2095_2096insGC;p.P699fs * 5;20:32434807 - 32434808 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.4622G > C;p.R1541T;20:32437334 - 32437334 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-错义 |
c.1322C > T;p.S441F;20:32433520 - 32433520 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.2928A > G;p.Q976Q;20:32435640 - 32435640 |
肾脏 | 癌;clear_cell_renal_cell_carcinoma | 替换-编码沉默 |
c.2095_2096insGC;p.P699fs * 5;20:32434807 - 32434808 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 插入——转移 |
c.4462C > T;p.L1488F;20:32437174 - 32437174 |
胰腺 | 癌 | 替换-错义 |
c.2423delC;p.P808fs * 10;20:32435135 - 32435135 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.243C >;p.F81L;20:32369114 - 32369114 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.2423delC;p.P808fs * 10;20:32435135 - 32435135 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 删除——转移 |
c.2708_2709insGAAT;p.D905fs * 2;20:32435420 - 32435421 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.581A > C;p.H194P;20:32429916 - 32429916 |
large_intestine | 癌;腺癌 | 替换-错义 |
c.1978_1980delGGC;p.G660del;20:32434690 - 32434692 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——在坐标系 |
c.1932G > T;p.G644G;20:32434644 - 32434644 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-编码沉默 |
c.1992_1992delC;p.S664fs * 39;20:32434704 - 32434704 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.3896G >;p.G1299D;20:32436608 - 32436608 |
甲状腺 | 癌 | 替换-错义 |
c.2110G >;p.G704R;20:32434822 - 32434822 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | 替换-错义 |
c.541G >;p.G181R;20:32429407 - 32429407 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.3863G >;p.G1288D;20:32436575 - 32436575 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.2064G >;p.T688T;20:32434776 - 32434776 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.2512A > T;p.K838 *;20:32435224 - 32435224 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | 替换-胡说 |
c.2512A > T;p.K838 *;20:32435224 - 32435224 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.2512A > T;p.K838 *;20:32435224 - 32435224 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | 替换-胡说 |
c.1578C > T;p.S526S;20:32433776 - 32433776 |
肝 | 癌 | 替换-编码沉默 |
c.1578C > T;p.S526S;20:32433776 - 32433776 |
肝 | 癌 | 替换-编码沉默 |
c.904C > T;p.R302C;20:32431604 - 32431604 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.2434G > T;p.G812C;20:32435146 - 32435146 |
肺 | 癌;腺癌 | 替换-错义 |
c.2185_2188delAGCT;p.S729fs * 14;20:32434897 - 32434900 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.3237C > G;p.S1079S;20:32435949 - 32435949 |
乳房 | 癌 | 替换-编码沉默 |
c.4069G >;p.A1357T;20:32436781 - 32436781 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.3818G >;p.R1273H;20:32436530 - 32436530 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.3721G >;p.E1241K;20:32436433 - 32436433 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.2422delC;p.P808fs * 10;20:32435134 - 32435134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.103C >;p.L35M;20:32366429 - 32366429 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.2422delC;p.P808fs * 10;20:32435134 - 32435134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.2141delC;p.R715fs * 10;20:32434853 - 32434853 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.2422delC;p.P808fs * 10;20:32435134 - 32435134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.2958C > T;p.N986N;20:32435670 - 32435670 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.2919delT;p.Y974fs * 10;20:32435631 - 32435631 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2958C > T;p.N986N;20:32435670 - 32435670 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.3764C >;p.S1255 *;20:32436476 - 32436476 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.3864T > C;p.G1288G;20:32436576 - 32436576 |
乳房 | 癌 | 替换-编码沉默 |
c.2601_2601delG;p.G869fs * 7;20:32435313 - 32435313 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.2958C > T;p.N986N;20:32435670 - 32435670 |
large_intestine;直肠 | 癌;腺癌 | 替换-编码沉默 |
c.3351C > T;p.P1117P;20:32436063 - 32436063 |
肺 | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.472G >;p.A158T;20:32429338 - 32429338 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.2428_2440del13;p.D810fs * 4;20:32435140 - 32435152 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.4382C > T;p.P1461L;20:32437094 - 32437094 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.3350C > T;p.P1117L;20:32436062 - 32436062 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.2035G > T;p.G679 *;20:32434747 - 32434747 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;blastic_plasmacytoid_dendritic_cell_neoplasm | 替换-胡说 |
c.2035G > T;p.G679 *;20:32434747 - 32434747 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2035G > T;p.G679 *;20:32434747 - 32434747 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia | 替换-胡说 |
c.4121_4122insG;p.P1377fs * 3;20:32436833 - 32436834 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.2078G > T;p.R693L;20:32434790 - 32434790 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.2754C > T;p.H918H;20:32435466 - 32435466 |
卵巢 | 癌;serous_carcinoma | 替换-编码沉默 |
c.2035G > T;p.G679 *;20:32434747 - 32434747 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 替换-胡说 |
c.3195G >;p.W1065 *;20:32435907 - 32435907 |
large_intestine;直肠 | 癌;腺癌 | 替换-胡说 |
c.2035G > T;p.G679 *;20:32434747 - 32434747 |
肺 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.1927delG;p.G645fs * 58;20:32434639 - 32434639 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.1927delG;p.G645fs * 58;20:32434639 - 32434639 |
large_intestine;盲肠 | 癌;腺癌 | 删除——转移 |
c.3569G >;p.R1190K;20:32436281 - 32436281 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.1927delG;p.G645fs * 58;20:32434639 - 32434639 |
胰腺 | 癌;acinar_carcinoma | 删除——转移 |
c.1927delG;p.G645fs * 58;20:32434639 - 32434639 |
胃 | 癌;intestinal_adenocarcinoma | 删除——转移 |
c.3737T >;p.V1246D;20:32436449 - 32436449 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.4514A > T;p.Q1505L;20:32437226 - 32437226 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.1927delG;p.G645fs * 58;20:32434639 - 32434639 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.1927delG;p.G645fs * 58;20:32434639 - 32434639 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1671C > G;p.T557T;20:32433869 - 32433869 |
urinary_tract;膀胱 | 癌 | 替换-编码沉默 |
c.3343A > G;p.S1115G;20:32436055 - 32436055 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.1611A > T;p.E537D;20:32433809 - 32433809 |
乳房 | 癌 | 替换-错义 |
c.2698C > T;p.P900S;20:32435410 - 32435410 |
胃 | 癌;腺癌 | 替换-错义 |
c.1627_1628insG;p.E543fs * 8;20:32433825 - 32433826 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.1208A > G;p.Q403R;20:32433406 - 32433406 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.2149_2149delA;p.R717fs * 8;20:32434861 - 32434861 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.2822_2822delC;p.P941fs * 4;20:32435534 - 32435534 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.2822_2822delC;p.P941fs * 4;20:32435534 - 32435534 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1634G >;p.R545H;20:32433832 - 32433832 |
胃 | 癌;腺癌 | 替换-错义 |
c.2253_2254insG;p.A752fs * 22;20:32434965 - 32434966 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.4183C > G;p.L1395V;20:32436895 - 32436895 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.1793_1794TC >;p.I598fs * 105;20:32434505 - 32434506 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 复杂——转移 |
c.3050A > C;p.D1017A;20:32435762 - 32435762 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.2208_2209insCA;p.V737fs * 8;20:32434920 - 32434921 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1972G > T;p.G658 *;20:32434684 - 32434684 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.1873_1874delCG;p.A627fs * 7;20:32434585 - 32434586 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2448_2448delT;p.L817fs * 1;20:32435160 - 32435160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.3184C > T;p.P1062S;20:32435896 - 32435896 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.1873_1874delCG;p.A627fs * 7;20:32434585 - 32434586 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.4183C > G;p.L1395V;20:32436895 - 32436895 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.1972G > T;p.G658 *;20:32434684 - 32434684 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.731G >;p.R244H;20:32431333 - 32431333 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.4304G > C;p.S1435T;20:32437016 - 32437016 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.4328A > G;p.K1443R;20:32437040 - 32437040 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.2323_2324insA;p.L775fs * 12;20:32435035 - 32435036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.3005delC;p.S1003fs * 21;20:32435717 - 32435717 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 删除——转移 |
c.3005delC;p.S1003fs * 21;20:32435717 - 32435717 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.3377A > G;p.H1126R;20:32436089 - 32436089 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.3988C > T;p.P1330S;20:32436700 - 32436700 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.1773C >;p.Y591 *;20:32434485 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.1773C >;p.Y591 *;20:32434485 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 替换-胡说 |
c.3213G >;p.A1071A;20:32435925 - 32435925 |
前列腺癌 | 癌;腺癌 | 替换-编码沉默 |
c.484A > G;p.K162E;20:32429350 - 32429350 |
胃 | 癌;腺癌 | 替换-错义 |
c.2395G > T;p.D799Y;20:32435107 - 32435107 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;essential_thrombocythaemia | 替换-错义 |
c.489A > C;p.K163N;20:32429355 - 32429355 |
卵巢 | 其他;肿瘤 | 替换-错义 |
c.1169G > T;p.G390V;20:32433367 - 32433367 |
甲状腺 | 其他;肿瘤 | 替换-错义 |
c.2395G > T;p.D799Y;20:32435107 - 32435107 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.222G >;p.L74L;20:32369093 - 32369093 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.2570T > C;p.L857P;20:32435282 - 32435282 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.4139_4140delCA;p.A1380fs * 11;20:32436851 - 32436852 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.1633delC;p.R545fs * 158;20:32433831 - 32433831 |
central_nervous_system;脑干 | 神经胶质瘤;astrocytoma_Grade_III | 删除——转移 |
c.3989C >;p.P1330H;20:32436701 - 32436701 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.608C > T;p.S203F;20:32429943 - 32429943 |
皮肤 | malignant_melanoma | 替换-错义 |
c.1205G >;p.R402Q;20:32433403 - 32433403 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.858C > T;p.F286F;20:32431460 - 32431460 |
肺 | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.3933_3934insG;p.A1312fs * 17;20:32436645 - 32436646 |
large_intestine;结肠 | 癌;腺癌 | 插入——转移 |
c.2862C >;p.D954E;20:32435574 - 32435574 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.2147_2147delC;p.A716fs * 9;20:32434859 - 32434859 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2258C > T;p.P753L;20:32434970 - 32434970 |
皮肤;的脸 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.1855_1865del11;p.R620fs * 11;20:32434567 - 32434577 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1762C > T;p.Q588 *;20:32434474 - 32434474 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.3935C > T;p.A1312V;20:32436647 - 32436647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.1123G >;p.V375M;20:32433321 - 32433321 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.1762C > T;p.Q588 *;20:32434474 - 32434474 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.3635delC;p.L1213fs * 4;20:32436347 - 32436347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2674_2675insCGGC;p.N893fs * 2;20:32435386 - 32435387 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm;acute_lymphoblastic_T_cell_leukaemia | 插入——转移 |
c.3935C > T;p.A1312V;20:32436647 - 32436647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-错义 |
c.3935C > T;p.A1312V;20:32436647 - 32436647 |
卵巢 | 癌;serous_carcinoma | 替换-错义 |
c.1736T > G;p.I579S;20:32434448 - 32434448 |
食管 | 癌;腺癌 | 替换-错义 |
c.3935C > T;p.A1312V;20:32436647 - 32436647 |
骨 | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | 替换-错义 |
c.1775A > G;p.Q592R;20:32434487 - 32434487 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1775A > G;p.Q592R;20:32434487 - 32434487 |
large_intestine;盲肠 | 癌;腺癌 | 替换-错义 |
c.1690A > T;p.K564 *;20:32433888 - 32433888 |
urinary_tract;膀胱 | 癌 | 替换-胡说 |
c.2209delG;p.V737fs * 7;20:32434921 - 32434921 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.3187C > T;p.Q1063 *;20:32435899 - 32435899 |
乳房 | 癌 | 替换-胡说 |
c。(2896 _2901) del3;p.G967del;20:32435608 - 32435610 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;essential_thrombocythaemia | 删除——在坐标系 |
c.2290_2290delC;p.L764fs * 8;20:32435002 - 32435002 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.4285T > G;p.S1429A;20:32436997 - 32436997 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.3187_3188insA;p.S1064fs * 23;20:32435899 - 32435900 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.3793G > T;p.D1265Y;20:32436505 - 32436505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.2389G > T;p.E797 *;20:32435101 - 32435101 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemia_of_ambiguous_lineage | 替换-胡说 |
c.2485C > T;p.Q829 *;20:32435197 - 32435197 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.2290_2290delC;p.L764fs * 8;20:32435002 - 32435002 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.2061_2061delT;p.C687fs * 1;20:32434773 - 32434773 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.2485C > T;p.Q829 *;20:32435197 - 32435197 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.2400T > G;p.D800E;20:32435112 - 32435112 |
骨;股骨 | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | 替换-错义 |
c.2113G > T;p.E705 *;20:32434825 - 32434825 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2920T > C;p.Y974H;20:32435632 - 32435632 |
肺 | 癌;腺癌 | 替换-错义 |
c.2400T > G;p.D800E;20:32435112 - 32435112 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-错义 |
c.1828G >;p.G610S;20:32434540 - 32434540 |
large_intestine;直肠 | 癌;腺癌 | 替换-错义 |
c.2817A > G;p.A939A;20:32435529 - 32435529 |
乳房 | 癌 | 替换-编码沉默 |
c.2433_2433delT;p.N811fs * 7;20:32435145 - 32435145 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.2095delC;p.P699fs * 4;20:32434807 - 32434807 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1803G >;p.T601T;20:32434515 - 32434515 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.2621_2622delCT;p.P874fs * 5;20:32435333 - 32435334 |
haematopoietic_and_lymphoid_tissue;皮肤 | haematopoietic_neoplasm;blastic_plasmacytoid_dendritic_cell_neoplasm | 删除——转移 |
c.1925_1926insA;p.G643fs * 15;20:32434637 - 32434638 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.3810_3811insAA;p.T1271fs * 10;20:32436522 - 32436523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1220A > G;p.H407R;20:32433418 - 32433418 |
乳房 | 癌 | 替换-错义 |
c.168C > G;p.L56L;20:32369039 - 32369039 |
urinary_tract;膀胱 | 癌 | 替换-编码沉默 |
c.1925_1926insA;p.G643fs * 15;20:32434637 - 32434638 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 插入——转移 |
c.2640_2640delT;p.R881fs * 5;20:32435352 - 32435352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2101_2107delCCTCTAA;p.P701fs * 22;20:32434813 - 32434819 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2372C > T;p.S791F;20:32435084 - 32435084 |
肺 | 癌;腺癌 | 替换-错义 |
c.4315G >;p.A1439T;20:32437027 - 32437027 |
胃 | 癌;腺癌 | 替换-错义 |
c.1935delT;p.G646fs * 57;20:32434647 - 32434647 |
large_intestine;结肠 | 癌;腺癌 | 删除——转移 |
c.3835G >;p.V1279M;20:32436547 - 32436547 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.1935delT;p.G646fs * 57;20:32434647 - 32434647 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.1935delT;p.G646fs * 57;20:32434647 - 32434647 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.1935delT;p.G646fs * 57;20:32434647 - 32434647 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.1935delT;p.G646fs * 57;20:32434647 - 32434647 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.1935delT;p.G646fs * 57;20:32434647 - 32434647 |
large_intestine | 癌;腺癌 | 删除——转移 |
c.2147delC;p.A716fs * 9;20:32434859 - 32434859 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.4048C > T;p.Q1350 *;20:32436760 - 32436760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_neutrophilic_leukaemia | 替换-胡说 |
c.308A > G;p.E103G;20:32428183 - 32428183 |
肾脏 | 癌;papillary_renal_cell_carcinoma | 替换-错义 |
c.2128G > T;p.G710 *;20:32434840 - 32434840 |
autonomic_ganglia | 神经母细胞瘤 | 替换-胡说 |
c.1902_1923del22;p.A636fs * 60;20:32434614 - 32434635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 删除——转移 |
c.794G >;p.R265H;20:32431396 - 32431396 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.2385C >;p.S795S;20:32435097 - 32435097 |
large_intestine;盲肠 | 癌;腺癌 | 替换-编码沉默 |
c.2432A > G;p.N811S;20:32435144 - 32435144 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.2385delC;p.W796fs * 22;20:32435097 - 32435097 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;essential_thrombocythaemia | 删除——转移 |
c.1838delC;p.L614fs * 89;20:32434550 - 32434550 |
食道;lower_third | 癌;squamous_cell_carcinoma | 删除——转移 |
c.2197C > T;p.Q733 *;20:32434909 - 32434909 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2197C > T;p.Q733 *;20:32434909 - 32434909 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.2197C > T;p.Q733 *;20:32434909 - 32434909 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.2385delC;p.W796fs * 22;20:32435097 - 32435097 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;essential_thrombocythaemia | 删除——转移 |
c.1232G >;p.R411H;20:32433430 - 32433430 |
食道;lower_third | 癌;squamous_cell_carcinoma | 替换-错义 |
c.2197C > T;p.Q733 *;20:32434909 - 32434909 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.2144_2145insA;p.A716fs * 2;20:32434856 - 32434857 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.2278C > T;p.Q760 *;20:32434990 - 32434990 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.2709G > T;p.S903S;20:32435421 - 32435421 |
乳房 | 癌 | 替换-编码沉默 |
c.2278C > T;p.Q760 *;20:32434990 - 32434990 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-胡说 |
c.3671G > C;p.R1224T;20:32436383 - 32436383 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.3748T > C;p.S1250P;20:32436460 - 32436460 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 替换-错义 |
c.2278C > T;p.Q760 *;20:32434990 - 32434990 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable | 替换-胡说 |
c.3947G >;p.R1316H;20:32436659 - 32436659 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-错义 |
c.1836G > C;p.R612S;20:32434548 - 32434548 |
upper_aerodigestive_tract;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.3202C > T;p.R1068 *;20:32435914 - 32435914 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.2541C >;p.S847S;20:32435253 - 32435253 |
large_intestine | 癌;腺癌 | 替换-编码沉默 |
c.3202C > T;p.R1068 *;20:32435914 - 32435914 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.3202C > T;p.R1068 *;20:32435914 - 32435914 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia | 替换-胡说 |
c.3202C > T;p.R1068 *;20:32435914 - 32435914 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 替换-胡说 |
c.1730C > G;p.S577 *;20:32434442 - 32434442 |
urinary_tract;膀胱 | 癌 | 替换-胡说 |
c.2222A > T;p.D741V;20:32434934 - 32434934 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.2382T > G;p.T794T;20:32435094 - 32435094 |
胃 | 癌;腺癌 | 替换-编码沉默 |
c.121G >;p.E41K;20:32366447 - 32366447 |
NS | NS | 替换-错义 |
c.2758_2759insA;p.P920fs * 4;20:32435470 - 32435471 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 插入——转移 |
c.1609G >;p.E537K;20:32433807 - 32433807 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.2655G >;p.L885L;20:32435367 - 32435367 |
肺 | 癌;腺癌 | 替换-编码沉默 |
c.664G >;p.E222K;20:32429999 - 32429999 |
食管 | 癌;腺癌 | 替换-错义 |
c.1609G >;p.E537K;20:32433807 - 32433807 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1917_1990 > 14;p.A640_S664 > PCSGG;20:32434629 - 32434702 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 复杂——删除inframe |
c.1894_1895insT;p.C632fs * 3;20:32434606 - 32434607 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic-myeloproliferative_neoplasm-unclassifiable | 插入——转移 |
c.1423G >;p.D475N;20:32433621 - 32433621 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.3299C >;p.S1100 *;20:32436011 - 32436011 |
large_intestine;直肠 | 癌;腺癌 | 替换-胡说 |
c.3506C > T;p.S1169F;20:32436218 - 32436218 |
皮肤;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.3593G > T;p.G1198V;20:32436305 - 32436305 |
乳房 | 癌 | 替换-错义 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.3506C > T;p.S1169F;20:32436218 - 32436218 |
皮肤;head_neck | 癌;squamous_cell_carcinoma | 替换-错义 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1375G >;p.A459T;20:32433573 - 32433573 |
large_intestine;结肠 | 癌;腺癌 | 替换-错义 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;blast_phase_chronic_myeloid_leukaemia | 删除——转移 |
c.3506C > T;p.S1169F;20:32436218 - 32436218 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_leukaemic_transformation_of_primary_myelofibrosis | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 删除——转移 |
c.1331C >;p.S444 *;20:32433529 - 32433529 |
large_intestine | 癌;腺癌 | 替换-胡说 |
c.1888_1910del23;p.E635fs * 15;20:32434600 - 32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.4185G >;p.L1395L;20:32436897 - 32436897 |
large_intestine;结肠 | 癌;腺癌 | 替换-编码沉默 |
c.2160delC;p.L721fs * 4;20:32434872 - 32434872 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;essential_thrombocythaemia | 删除——转移 |
c.1749G >;p.W583 *;20:32434461 - 32434461 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.395C > T;p.S132L;20:32428346 - 32428346 |
皮肤 | malignant_melanoma | 替换-错义 |
c.1937_1937delG;p.G646fs * 57;20:32434649 - 32434649 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.3115C > T;p.Q1039 *;20:32435827 - 32435827 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.124G > T;p.G42 *;20:32366450 - 32366450 |
large_intestine;结肠 | 癌;腺癌 | 替换-胡说 |
c.1963_1976del14;p.T655fs * 8;20:32434675 - 32434688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.3518T > C;p.L1173S;20:32436230 - 32436230 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia_associated_with_MDS | 替换-错义 |
c.1875_1876insG;p.A627fs * 8;20:32434587 - 32434588 |
large_intestine | 癌;腺癌 | 插入——转移 |
c.4552delG;p.G1518fs * 23;20:32437264 - 32437264 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;blastic_plasmacytoid_dendritic_cell_neoplasm | 删除——转移 |
c.3160A > G;p.T1054A;20:32435872 - 32435872 |
食管 | 癌;腺癌 | 替换-错义 |
c.3557C > T;p.T1186I;20:32436269 - 32436269 |
乳房 | 癌 | 替换-错义 |
c.2208A > T;p.T736T;20:32434920 - 32434920 |
肺 | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.4482T > C;p.T1494T;20:32437194 - 32437194 |
食道;lower_third | 癌;腺癌 | 替换-编码沉默 |
c.2926C > T;p.Q976 *;20:32435638 - 32435638 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_neutrophilic_leukaemia | 替换-胡说 |
c.2355_2355delT;p.R786fs * 32;20:32435067 - 32435067 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.2415_2415delC;p.T806fs * 12;20:32435127 - 32435127 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.2415_2415delC;p.T806fs * 12;20:32435127 - 32435127 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 删除——转移 |
c.1480C > T;p.P494S;20:32433678 - 32433678 |
子宫内膜 | 癌;endometrioid_carcinoma | 替换-错义 |
c.2835_2835delA;p.A946fs * 5;20:32435547 - 32435547 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1771_1772insA;p.Y591fs * 1;20:32434483 - 32434484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 插入——转移 |
c.3616_3625del10;p.A1206fs * 8;20:32436328 - 32436337 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.1646G >;p.R549H;20:32433844 - 32433844 |
胃 | 癌;腺癌 | 替换-错义 |
c.2161_2161delC;p.L721fs * 4;20:32434873 - 32434873 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myelomonocytic_leukaemia | 删除——转移 |
c.3605_3606insA;p.N1203fs * 9;20:32436317 - 32436318 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.3519G > C;p.L1173F;20:32436231 - 32436231 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.2688G >;p.L896L;20:32435400 - 32435400 |
肺 | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.2338C > T;p.Q780 *;20:32435050 - 32435050 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.3598C > T;p.P1200S;20:32436310 - 32436310 |
肺 | 癌;腺癌 | 替换-错义 |
c.2338C > T;p.Q780 *;20:32435050 - 32435050 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-胡说 |
c.1773C > G;p.Y591 *;20:32434485 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.3135_3136ins131;p.V1046fs * 22;20:32435847 - 32435848 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 插入——转移 |
c.2846_2847delGT;p.G949fs * 5;20:32435558 - 32435559 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;骨髓纤维化 | 删除——转移 |
c.1773C > G;p.Y591 *;20:32434485 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;polycythaemia_vera | 替换-胡说 |
c.1773C > G;p.Y591 *;20:32434485 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;chronic_myeloid_leukaemia | 替换-胡说 |
c.1773C > G;p.Y591 *;20:32434485 - 32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.1630G >;p.D544N;20:32433828 - 32433828 |
urinary_tract;膀胱 | 癌 | 替换-错义 |
c.1903G > T;p.E635 *;20:32434615 - 32434615 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-胡说 |
c.3633C >;p.D1211E;20:32436345 - 32436345 |
肺 | 癌;squamous_cell_carcinoma | 替换-错义 |
c.2597T > C;p.L866S;20:32435309 - 32435309 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.2245delC;p.L749fs * 23;20:32434957 - 32434957 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 删除——转移 |
c.2049C > T;p.T683T;20:32434761 - 32434761 |
皮肤;head_neck | 癌;squamous_cell_carcinoma | 替换-编码沉默 |
c.2053G >;p.G685R;20:32434765 - 32434765 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;acute_myeloid_leukaemia | 替换-错义 |
c.1954G >;p.G652S;20:32434666 - 32434666 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-错义 |
c.1346A > G;p.Y449C;20:32433544 - 32433544 |
肺 | 癌;腺癌 | 替换-错义 |
c.1730C >;p.S577 *;20:32434442 - 32434442 |
upper_aerodigestive_tract;口 | 癌;squamous_cell_carcinoma | 替换-胡说 |
c.1914C > T;p.T638T;20:32434626 - 32434626 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm;myelodysplastic_syndrome | 替换-编码沉默 |
c.2696T > C;p.I899T;20:32435408 - 32435408 |
食管 | 癌;腺癌 | 替换-错义 |