| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.209634455del | CA16040704 | LAMB3 | c.561del (p.Lys188ArgfsTer9) c.561del (p.Gly187=) c.373-1317del (n.373-1317del) | ClinVar dbSNP gnomAD v4 |
| 1 | g.209634455dup | CA2650322718 | LAMB3 | c.561dup (p.Lys188GlufsTer5) c.561dup (p.Lys188GlufsTer?) c.373-1317dup (n.373-1317dup) | dbSNP gnomAD v4 |