| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197133360C>T | CA16042342 | ASPM | c.2409G>A (p.Trp803Ter) n.465G>A c.159G>A (p.Trp53Ter) c.561+10331G>A (n.561+10331G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197133360C= | CA1217942994 | ASPM | c.2409G= (p.Trp803=) n.465G= c.159G= (p.Trp53=) c.561+10331G= (n.561+10331G=) | dbSNP |