机构名称：
¥ 1.0
R347P c.1040G>C p.Arg347Pro R347H c.1040G>A p.Arg347His R352Q c.1055G>A p.Arg352Gln 1213delT c.1081delT p.Trp361GlyfsX8 1248+1G>A c.1116+1G>A 无蛋白质名称 1259insA c.1127_1128insA p.Gln378AlafsX4 W401X(c.1202G>A) c.1202G>A p.Trp401X W401X(c.1203G>A) c.1203G>A p.Trp401X 1341+1G>A c.1209+1G>A 无蛋白质名称 5T* c.1210-12T[5] 无蛋白质名称 7T* c.1210-12T[7] 无蛋白质名称 9T* c.1210-12T[9] 无蛋白质名称 1461ins4 c.1329_1330insAGAT p.Ile444ArgfsX3 A455E c.1364C>A p.Ala455Glu 1525-1G>A c.1393-1G>A 无蛋白质名称 S466X(C>A) c.1397C>A p.Ser466X S466X(C>G) c.1397C>G p.Ser466X L467P c.1400T>C p.Leu467Pro 1548delG c.1418delG p.Gly473GlufsX54 S489X c.1466C>A p.Ser489X S492F c.1475C>T p.Ser492Phe Q493X c.1477C>T p.Gln493X I506V** c.1516A>G p.Ile506Val
密歇根囊性纤维化 DNA 突变检测小组
主要关键词
相关文件推荐
