突变数据库：遗传病变异检索与ACMG致病性分级参考

共 14339480 条结果

相关基因	碱基改变	氨基酸改变	转录本ID	突变类型	临床意义	疾病数量	文献数量
CFTR	c.1521_1523del	p.Phe508Del (p.F508del)	NM_000492.4 M MANE Select	Del	致病突变	3 相关疾病： Bronchiectasis with or Without Elevated Sweat Chloride 1 Pancreatitis, Hereditary Vas Deferens, Congenital Bilateral Aplasia of	224
CFTR	c.1521_1523delCTT	--	NM_000492.4 M MANE Select	Del	致病突变	3 相关疾病： Bronchiectasis with or Without Elevated Sweat Chloride 1 Pancreatitis, Hereditary Vas Deferens, Congenital Bilateral Aplasia of	224
CFTR	c.1520_1522delTCT	--	NM_000492.4 M MANE Select	Del	致病突变	3 相关疾病： Bronchiectasis with or Without Elevated Sweat Chloride 1 Pancreatitis, Hereditary Vas Deferens, Congenital Bilateral Aplasia of	224
CFTR	c.1520_1522del	--	NM_000492.4 M MANE Select	Del	致病突变	3 相关疾病： Bronchiectasis with or Without Elevated Sweat Chloride 1 Pancreatitis, Hereditary Vas Deferens, Congenital Bilateral Aplasia of	224
BRCA1	c.68_69delAG	--	NM_007294.4 M MANE Select	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408415.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408416.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408418.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408419.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408420.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408421.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408422.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408423.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408424.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408425.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408426.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408427.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408428.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408429.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156
BRCA1	c.66_67AG[1]	p.Glu23Valfs (p.E23Valfs)	NM_001408430.1	MS	致病突变	4 相关疾病： Breast-Ovarian Cancer, Familial 1 Endometrial Cancer Fanconi Anemia, Complementation Group S Pancreatic Cancer 4	156

14339480 条结果，每页 20 条结果

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