| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43076583dup | CA327931 | BRCA1 | c.4388dup (p.Ile1464TyrfsTer11) c.4391dup (p.Ile1465TyrfsTer11) c.4265dup (p.Ile1423TyrfsTer11) c.4385dup (p.Ile1463TyrfsTer11) c.4313dup (p.Ile1439TyrfsTer11) c.1079dup (p.Ile361TyrfsTer11) c.941dup (p.Ile315TyrfsTer11) c.3503dup (p.Ile1169TyrfsTer11) c.4268dup (p.Ile1424TyrfsTer11) c.4457dup (p.Ile1487TyrfsTer11) c.4250dup (p.Ile1418TyrfsTer11) c.953dup (p.Ile319TyrfsTer11) c.998dup (p.Ile334TyrfsTer11) c.4454dup (p.Ile1486TyrfsTer11) c.778dup c.965dup (p.Ile323TyrfsTer11) c.*4174dup (n.*4174dup) c.682dup c.704dup (p.Ile236TyrfsTer11) c.707dup (p.Ile237TyrfsTer11) c.5-12630dup (n.5-12630dup) c.-43-2060dup (n.-43-2060dup) c.-98-26391dup (n.-98-26391dup) n.282dup n.4527dup n.4568dup | ClinVar dbSNP gnomAD v4 |
| 17 | g.43076583del | CA002818 | BRCA1 | c.4388del (p.Pro1463LeufsTer2) c.4391del (p.Pro1464LeufsTer2) c.4265del (p.Pro1422LeufsTer2) c.4385del (p.Pro1462LeufsTer2) c.4313del (p.Pro1438LeufsTer2) c.1079del (p.Pro360LeufsTer2) c.941del (p.Pro314LeufsTer2) c.3503del (p.Pro1168LeufsTer2) c.4268del (p.Pro1423LeufsTer2) c.4457del (p.Pro1486LeufsTer2) c.4250del (p.Pro1417LeufsTer2) c.953del (p.Pro318LeufsTer2) c.998del (p.Pro333LeufsTer2) c.4454del (p.Pro1485LeufsTer2) c.778del c.965del (p.Pro322LeufsTer2) c.*4174del (n.*4174del) c.682del c.704del (p.Pro235LeufsTer2) c.707del (p.Pro236LeufsTer2) c.5-12630del (n.5-12630del) c.-43-2060del (n.-43-2060del) c.-98-26391del (n.-98-26391del) n.282del n.4527del n.4568del | ClinVar dbSNP |