| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1045444G>A | CA508639 | AGRN | c.2457G>A (p.Gly819=) c.2142G>A (p.Gly714=) n.46G>A c.2043G>A (p.Gly681=) c.1584G>A (p.Gly528=) c.723G>A (p.Gly241=) n.2524G>A n.2528G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.1045444G>C | CA235728 | AGRN | c.2457G>C (p.Gly819=) c.2142G>C (p.Gly714=) n.46G>C c.2043G>C (p.Gly681=) c.1584G>C (p.Gly528=) c.723G>C (p.Gly241=) n.2524G>C n.2528G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |