| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23603594dup | CA294563 | PALB2 | c.3432dup (p.Leu1145ThrfsTer14) c.*911dup (n.*911dup) c.*61dup (n.*61dup) c.3270dup (p.Leu1091ThrfsTer14) c.2541dup (p.Leu848ThrfsTer14) n.4773dup c.2379dup (p.Leu794ThrfsTer14) n.3946dup n.2630dup n.2121dup c.*203dup (n.*203dup) c.960dup (p.Leu321ThrfsTer14) c.3426dup (p.Leu1143ThrfsTer14) c.192dup n.4134dup c.3195dup (p.Leu1066ThrfsTer14) c.3189dup (p.Leu1064ThrfsTer14) | ClinVar dbSNP |
| 16 | g.23603594T= | CA3217598484 | PALB2 | c.3432A= (p.Leu1144=) c.*911A= (n.*911A=) c.*61A= (n.*61A=) c.3270A= (p.Leu1090=) c.2541A= (p.Leu847=) n.4773A= c.2379A= (p.Leu793=) n.3946A= n.2630A= n.2121A= c.*203A= (n.*203A=) c.960A= (p.Leu320=) c.3426A= (p.Leu1142=) c.192A= n.4134A= c.3195A= (p.Leu1065=) c.3189A= (p.Leu1063=) | dbSNP dbSNP |