| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.44311148G>A | CA320112 | AARS2,POLR1C | c.595C>T (p.Arg199Cys) c.855+3506G>A n.630C>T c.-424C>T (n.-424C>T) c.946-130742G>A (n.946-130742G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44311148G= | CA1624928890 | AARS2,POLR1C | c.595C= (p.Arg199=) c.855+3506G= n.630C= c.-424C= (n.-424C=) c.946-130742G= (n.946-130742G=) | dbSNP |