| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.44302821G>A | CA364337105 | AARS2,POLR1C,TMEM151B | c.2345C>T (p.Thr782Ile) c.577-4122G>A (n.577-4122G>A) c.314-4122G>A c.2054C>T (p.Thr685Ile) n.2270C>T c.1055C>T (p.Thr352Ile) c.946-139069G>A (n.946-139069G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.44302821G= | CA1624923620 | AARS2,POLR1C,TMEM151B | c.2345C= (p.Thr782=) c.577-4122G= (n.577-4122G=) c.314-4122G= c.2054C= (p.Thr685=) n.2270C= c.1055C= (p.Thr352=) c.946-139069G= (n.946-139069G=) | dbSNP |