| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136676638del | CA16042195 | AGPAT2 | c.538del (p.Asp180ThrfsTer?) c.492+326del (n.492+326del) n.466del | ClinVar dbSNP |
| 9 | g.136676638dup | CA2692654590 | AGPAT2 | c.538dup (p.Asp180GlyfsTer6) c.492+326dup (n.492+326dup) n.466dup | dbSNP gnomAD v4 |