| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43091712del | CA002462 | BRCA1 | n.3884del c.3820del (p.Val1274Ter) c.3694del (p.Val1232Ter) c.3817del (p.Val1273Ter) c.3742del (p.Val1248Ter) c.785-679del (n.785-679del) c.647-679del (n.647-679del) c.2932del (p.Val978Ter) c.3697del (p.Val1233Ter) c.3679del (p.Val1227Ter) c.665-679del (n.665-679del) c.707-679del (n.707-679del) c.141del c.671-679del (n.671-679del) c.*3603del (n.*3603del) c.114del c.788-679del (n.788-679del) c.410-679del (n.410-679del) c.413-679del (n.413-679del) c.5-27760del (n.5-27760del) c.-43-17190del (n.-43-17190del) c.-99+33560del (n.-99+33560del) n.3956del n.3997del | ClinVar dbSNP |
| 17 | g.43091712dup | CA002461 | BRCA1 | n.3884dup c.3820dup (p.Val1274GlyfsTer13) c.3694dup (p.Val1232GlyfsTer13) c.3817dup (p.Val1273GlyfsTer13) c.3742dup (p.Val1248GlyfsTer13) c.785-679dup (n.785-679dup) c.647-679dup (n.647-679dup) c.2932dup (p.Val978GlyfsTer13) c.3697dup (p.Val1233GlyfsTer13) c.3679dup (p.Val1227GlyfsTer13) c.665-679dup (n.665-679dup) c.707-679dup (n.707-679dup) c.141dup c.671-679dup (n.671-679dup) c.*3603dup (n.*3603dup) c.114dup c.788-679dup (n.788-679dup) c.410-679dup (n.410-679dup) c.413-679dup (n.413-679dup) c.5-27760dup (n.5-27760dup) c.-43-17190dup (n.-43-17190dup) c.-99+33560dup (n.-99+33560dup) n.3956dup n.3997dup | ClinVar dbSNP |