| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197090994A>C | CA342297 | ASPM | n.2779T>G c.9492T>G (p.Tyr3164Ter) c.9714T>G (p.Tyr3238Ter) c.9468T>G (p.Tyr3156Ter) c.4737T>G (p.Tyr1579Ter) c.2487T>G (p.Tyr829Ter) c.3450T>G (p.Tyr1150Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.197090994A>G | CA271151 | ASPM | n.2779T>C c.9492T>C (p.Tyr3164=) c.9714T>C (p.Tyr3238=) c.9468T>C (p.Tyr3156=) c.4737T>C (p.Tyr1579=) c.2487T>C (p.Tyr829=) c.3450T>C (p.Tyr1150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |