| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.44301382G>C | CA138384451 | AARS2,POLR1C,TMEM151B | c.2681C>G (p.Ser894Ter) c.577-5561G>C (n.577-5561G>C) n.39C>G c.314-5561G>C c.2390C>G (p.Ser797Ter) n.2606C>G c.1391C>G (p.Ser464Ter) c.946-140508G>C (n.946-140508G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.44301382G>T | CA324938 | AARS2,POLR1C,TMEM151B | c.2681C>A (p.Ser894Ter) c.577-5561G>T (n.577-5561G>T) n.39C>A c.314-5561G>T c.2390C>A (p.Ser797Ter) n.2606C>A c.1391C>A (p.Ser464Ter) c.946-140508G>T (n.946-140508G>T) | ClinVar dbSNP |