| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40020930dup | CA617211573 | EIF2AK4 | c.4205dup (p.Ser1403LysfsTer?) n.1197dup n.3122dup n.405dup c.3537dup c.4034dup (p.Ser1346LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40020930T= | CA3212402690 | EIF2AK4 | c.4205T= (p.Val1402=) n.1197T= n.3122T= n.405T= c.3537T= c.4034T= (p.Val1345=) | dbSNP |