| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1050473G>A | CA509824 | AGRN | c.5023G>A (p.Gly1675Ser) c.4708G>A (p.Gly1570Ser) c.4609G>A (p.Gly1537Ser) c.4150G>A (p.Gly1384Ser) c.3289G>A (p.Gly1097Ser) n.5090G>A n.5094G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1050473G= | CA1148750998 | AGRN | c.5023G= (p.Gly1675=) c.4708G= (p.Gly1570=) c.4609G= (p.Gly1537=) c.4150G= (p.Gly1384=) c.3289G= (p.Gly1097=) n.5090G= n.5094G= | dbSNP |