| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209625801dup | CA16040694 | LAMB3 | c.1823dup (p.Ser608ArgfsTer23) c.1631dup (p.Ser544ArgfsTer23) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.209625801C= | CA3071928983 | LAMB3 | c.1823G= (p.Ser608=) c.1631G= (p.Ser544=) | dbSNP |