| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197101312G>A | CA1309312 | ASPM | n.2108-5148C>T c.7939C>T (p.Leu2647Phe) c.4066-5148C>T (n.4066-5148C>T) c.1816-5148C>T (n.1816-5148C>T) c.1897C>T (p.Leu633Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197101312G>T | CA171267 | ASPM | n.2108-5148C>A c.7939C>A (p.Leu2647Ile) c.4066-5148C>A (n.4066-5148C>A) c.1816-5148C>A (n.1816-5148C>A) c.1897C>A (p.Leu633Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |