| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.44300612C>T | CA170066 | AARS2,POLR1C,TMEM151B | c.2893G>A (p.Gly965Arg) c.577-6331C>T (n.577-6331C>T) n.695G>A c.314-6331C>T c.2602G>A (p.Gly868Arg) c.2793+544G>A (n.2793+544G>A) n.2818G>A c.1603G>A (p.Gly535Arg) c.946-141278C>T (n.946-141278C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44300612C= | CA1624921808 | AARS2,POLR1C,TMEM151B | c.2893G= (p.Gly965=) c.577-6331C= (n.577-6331C=) n.695G= c.314-6331C= c.2602G= (p.Gly868=) c.2793+544G= (n.2793+544G=) n.2818G= c.1603G= (p.Gly535=) c.946-141278C= (n.946-141278C=) | dbSNP |