| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51913182del | CA891843493 | ACVRL1 | c.187del (p.Ala63ProfsTer5) c.145del (p.Ala49ProfsTer5) c.103+647del (n.103+647del) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51913182dup | CA319771 | ACVRL1 | c.187dup (p.Ala63GlyfsTer?) c.145dup (p.Ala49GlyfsTer?) c.103+647dup (n.103+647dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |