| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1051775G>A | CA510106 | AGRN | c.5611G>A (p.Gly1871Arg) c.5308G>A (p.Gly1770Arg) c.5296G>A (p.Gly1766Arg) c.518G>A c.5209G>A (p.Gly1737Arg) c.5623G>A (p.Gly1875Arg) c.4750G>A (p.Gly1584Arg) c.3889G>A (p.Gly1297Arg) n.5690G>A n.5694G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1051775G= | CA1148758874 | AGRN | c.5611G= (p.Gly1871=) c.5308G= (p.Gly1770=) c.5296G= (p.Gly1766=) c.518G= c.5209G= (p.Gly1737=) c.5623G= (p.Gly1875=) c.4750G= (p.Gly1584=) c.3889G= (p.Gly1297=) n.5690G= n.5694G= | dbSNP |