| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23603564dup | CA288484 | PALB2 | c.3462dup (p.Pro1155ThrfsTer4) c.*941dup (n.*941dup) c.*91dup (n.*91dup) c.3300dup (p.Pro1101ThrfsTer4) c.2571dup (p.Pro858ThrfsTer4) n.4803dup c.2409dup (p.Pro804ThrfsTer4) n.3976dup n.2660dup n.2151dup c.*233dup (n.*233dup) c.990dup (p.Pro331ThrfsTer4) c.3456dup (p.Pro1153ThrfsTer4) c.222dup n.4164dup c.3225dup (p.Pro1076ThrfsTer4) c.3219dup (p.Pro1074ThrfsTer4) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603564T= | CA3217598482 | PALB2 | c.3462A= (p.Pro1154=) c.*941A= (n.*941A=) c.*91A= (n.*91A=) c.3300A= (p.Pro1100=) c.2571A= (p.Pro857=) n.4803A= c.2409A= (p.Pro803=) n.3976A= n.2660A= n.2151A= c.*233A= (n.*233A=) c.990A= (p.Pro330=) c.3456A= (p.Pro1152=) c.222A= n.4164A= c.3225A= (p.Pro1075=) c.3219A= (p.Pro1073=) | dbSNP dbSNP |