Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43090965_43090966del | CA002664 | BRCA1 | c.4165_4166del (p.Ser1389Ter) c.4039_4040del (p.Ser1347Ter) c.4162_4163del (p.Ser1388Ter) c.4087_4088del (p.Ser1363Ter) c.853_854del (p.Ser285Ter) c.715_716del (p.Ser239Ter) c.3277_3278del (p.Ser1093Ter) c.4042_4043del (p.Ser1348Ter) c.4024_4025del (p.Ser1342Ter) c.733_734del (p.Ser245Ter) c.775_776del (p.Ser259Ter) c.486_487del c.739_740del (p.Ser247Ter) c.*3948_*3949del (n.*3948_*3949del) c.459_460del c.856_857del (p.Ser286Ter) c.478_479del (p.Ser160Ter) c.481_482del (p.Ser161Ter) c.5-27013_5-27012del (n.5-27013_5-27012del) c.-43-16443_-43-16442del (n.-43-16443_-43-16442del) c.-99+34307_-99+34308del (n.-99+34307_-99+34308del) n.4301_4302del n.4342_4343del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43090965_43090966dup | CA327913 | BRCA1 | c.4165_4166dup (p.Ser1389ArgfsTer5) c.4039_4040dup (p.Ser1347ArgfsTer5) c.4162_4163dup (p.Ser1388ArgfsTer5) c.4087_4088dup (p.Ser1363ArgfsTer5) c.853_854dup (p.Ser285ArgfsTer5) c.715_716dup (p.Ser239ArgfsTer5) c.3277_3278dup (p.Ser1093ArgfsTer5) c.4042_4043dup (p.Ser1348ArgfsTer5) c.4024_4025dup (p.Ser1342ArgfsTer5) c.733_734dup (p.Ser245ArgfsTer5) c.775_776dup (p.Ser259ArgfsTer5) c.486_487dup c.739_740dup (p.Ser247ArgfsTer5) c.*3948_*3949dup (n.*3948_*3949dup) c.459_460dup c.856_857dup (p.Ser286ArgfsTer5) c.478_479dup (p.Ser160ArgfsTer5) c.481_482dup (p.Ser161ArgfsTer5) c.5-27013_5-27012dup (n.5-27013_5-27012dup) c.-43-16443_-43-16442dup (n.-43-16443_-43-16442dup) c.-99+34307_-99+34308dup (n.-99+34307_-99+34308dup) n.4301_4302dup n.4342_4343dup | ClinVar dbSNP |