| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.220126827G>A | CA233272 | IARS2 | c.1821G>A (p.Trp607Ter) n.205G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.220126827G>T | CA344639957 | IARS2 | c.1821G>T (p.Trp607Cys) n.205G>T | dbSNP gnomAD v4 |
| 1 | g.220126827G= | CA1143928954 | IARS2 | c.1821G= (p.Trp607=) n.205G= | dbSNP |