| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.32754025dup | CA235219494 | YARS2 | c.842dup (p.Leu282AlafsTer15) c.764dup (p.Leu256AlafsTer15) n.929dup n.1426dup | dbSNP |
| 12 | g.32754025del | CA6508080 | YARS2 | c.842del (p.Lys281SerfsTer12) c.764del (p.Lys255SerfsTer12) n.929del n.1426del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |