| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.99862405del | CA16040826 | AGL | c.442del (p.Arg148GlyfsTer10) n.653del c.394del (p.Arg132GlyfsTer10) c.391del (p.Arg131GlyfsTer10) | ClinVar dbSNP |
| 1 | g.99862405A= | CA1147819699 | AGL | c.442A= (p.Arg148=) n.653A= c.394A= (p.Arg132=) c.391A= (p.Arg131=) | dbSNP dbSNP |