| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197101646C>T | CA171250 | ASPM | n.2108-5482G>A c.7605G>A (p.Val2535=) c.4066-5482G>A (n.4066-5482G>A) c.1816-5482G>A (n.1816-5482G>A) c.1563G>A (p.Val521=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197101646C= | CA1140226621 | ASPM | n.2108-5482G= c.7605G= (p.Val2535=) c.4066-5482G= (n.4066-5482G=) c.1816-5482G= (n.1816-5482G=) c.1563G= (p.Val521=) | dbSNP |