| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51914071_51914072del | CA16614048 | ACVRL1 | c.356-368_356-367del (n.356-368_356-367del) c.623_624del (p.Val208GlyfsTer16) c.104-368_104-367del (n.104-368_104-367del) c.665_666del (p.Val222GlyfsTer16) c.-165+301_-165+302del (n.-165+301_-165+302del) | ClinVar dbSNP |
| 12 | g.51914071_51914072dup | CA2618859886 | ACVRL1 | c.356-368_356-367dup (n.356-368_356-367dup) c.623_624dup (p.Gly209TrpfsTer?) c.104-368_104-367dup (n.104-368_104-367dup) c.665_666dup (p.Gly223TrpfsTer?) c.-165+301_-165+302dup (n.-165+301_-165+302dup) | dbSNP gnomAD v4 |