| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43091906del | CA002318 | BRCA1 | n.3690del c.3626del (p.Leu1209Ter) c.3500del (p.Leu1167Ter) c.3623del (p.Leu1208Ter) c.3548del (p.Leu1183Ter) c.785-873del (n.785-873del) c.647-873del (n.647-873del) c.2738del (p.Leu913Ter) c.3503del (p.Leu1168Ter) c.3485del (p.Leu1162Ter) c.665-873del (n.665-873del) c.707-873del (n.707-873del) c.671-873del (n.671-873del) c.*3409del (n.*3409del) c.788-873del (n.788-873del) c.410-873del (n.410-873del) c.413-873del (n.413-873del) c.5-27954del (n.5-27954del) c.-43-17384del (n.-43-17384del) c.-99+33366del (n.-99+33366del) n.3762del n.3803del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43091906dup | CA327883 | BRCA1 | n.3690dup c.3626dup (p.Leu1209PhefsTer10) c.3500dup (p.Leu1167PhefsTer10) c.3623dup (p.Leu1208PhefsTer10) c.3548dup (p.Leu1183PhefsTer10) c.785-873dup (n.785-873dup) c.647-873dup (n.647-873dup) c.2738dup (p.Leu913PhefsTer10) c.3503dup (p.Leu1168PhefsTer10) c.3485dup (p.Leu1162PhefsTer10) c.665-873dup (n.665-873dup) c.707-873dup (n.707-873dup) c.671-873dup (n.671-873dup) c.*3409dup (n.*3409dup) c.788-873dup (n.788-873dup) c.410-873dup (n.410-873dup) c.413-873dup (n.413-873dup) c.5-27954dup (n.5-27954dup) c.-43-17384dup (n.-43-17384dup) c.-99+33366dup (n.-99+33366dup) n.3762dup n.3803dup | ClinVar dbSNP |