| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197117876C>T | CA340327 | ASPM | n.2020G>A c.3978G>A (p.Trp1326Ter) c.4026G>A (n.4026G>A) c.1728G>A (p.Trp576Ter) c.562-15229G>A (n.562-15229G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197117876C= | CA1141581328 | ASPM | n.2020G= c.3978G= (p.Trp1326=) c.4026G= (n.4026G=) c.1728G= (p.Trp576=) c.562-15229G= (n.562-15229G=) | dbSNP |