| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43082441dup | CA002767 | BRCA1 | c.4321dup (p.Asp1441GlyfsTer20) c.4321dup (p.Asp1441GlyfsTer21) c.4195dup (p.Asp1399GlyfsTer21) c.4315dup (p.Asp1439GlyfsTer21) c.4243dup (p.Asp1415GlyfsTer21) c.1009dup (p.Asp337GlyfsTer21) c.871dup (p.Asp291GlyfsTer21) c.3433dup (p.Asp1145GlyfsTer21) c.4198dup (p.Asp1400GlyfsTer21) c.4321dup (p.Asp1441GlyfsTer27) c.4180dup (p.Asp1394GlyfsTer21) c.886dup (p.Asp296GlyfsTer20) c.931dup (p.Asp311GlyfsTer20) c.642dup c.895dup (p.Asp299GlyfsTer21) c.*4104dup (n.*4104dup) c.615dup c.1012dup (p.Asp338GlyfsTer20) c.634dup (p.Asp212GlyfsTer21) c.637dup (p.Asp213GlyfsTer21) c.5-18489dup (n.5-18489dup) c.-43-7919dup (n.-43-7919dup) c.-98-32250dup (n.-98-32250dup) n.215dup n.4457dup n.4498dup | ClinVar dbSNP |
| 17 | g.43082441del | CA915950055 | BRCA1 | c.4321del (p.Asp1441ThrfsTer14) c.4321del (p.Asp1441ThrfsTer15) c.4195del (p.Asp1399ThrfsTer15) c.4315del (p.Asp1439ThrfsTer15) c.4243del (p.Asp1415ThrfsTer15) c.1009del (p.Asp337ThrfsTer15) c.871del (p.Asp291ThrfsTer15) c.3433del (p.Asp1145ThrfsTer15) c.4198del (p.Asp1400ThrfsTer15) c.4321del (p.Asp1441ThrfsTer?) c.4180del (p.Asp1394ThrfsTer15) c.886del (p.Asp296ThrfsTer14) c.931del (p.Asp311ThrfsTer14) c.642del c.895del (p.Asp299ThrfsTer15) c.*4104del (n.*4104del) c.615del c.1012del (p.Asp338ThrfsTer14) c.634del (p.Asp212ThrfsTer15) c.637del (p.Asp213ThrfsTer15) c.5-18489del (n.5-18489del) c.-43-7919del (n.-43-7919del) c.-98-32250del (n.-98-32250del) n.215del n.4457del n.4498del | ClinVar dbSNP |