| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.44311097dup | CA170061 | AARS2,POLR1C | c.647dup (p.Cys218LeufsTer6) c.855+3455dup n.682dup c.-372dup (n.-372dup) c.946-130793dup (n.946-130793dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44311097del | CA2678954171 | AARS2,POLR1C | c.647del (p.Gly216AlafsTer23) c.855+3455del n.682del c.-372del (n.-372del) c.946-130793del (n.946-130793del) | dbSNP gnomAD v4 |