| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.44313103A>T | CA320259 | AARS2,POLR1C | c.221T>A (p.Phe74Tyr) c.855+5461A>T n.256T>A c.-798T>A (n.-798T>A) c.946-128787A>T (n.946-128787A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44313103A= | CA1624931611 | AARS2,POLR1C | c.221T= (p.Phe74=) c.855+5461A= n.256T= c.-798T= (n.-798T=) c.946-128787A= (n.946-128787A=) | dbSNP |