| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209629846_209629847dup | CA16040696 | LAMB3 | c.1029_1030dup (p.Asp344ValfsTer?) c.837_838dup (p.Asp280ValfsTer?) | ClinVar dbSNP |
| 1 | g.209629846_209629847del | CA2697554893 | LAMB3 | c.1029_1030del (p.Cys343Ter) c.837_838del (p.Cys279Ter) | ClinVar dbSNP |