| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197090947T>G | CA233487 | ASPM | n.2826A>C c.9539A>C (p.Gln3180Pro) c.9761A>C (p.Gln3254Pro) c.9515A>C (p.Gln3172Pro) c.4784A>C (p.Gln1595Pro) c.2534A>C (p.Gln845Pro) c.3497A>C (p.Gln1166Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090947T= | CA1143351619 | ASPM | n.2826A= c.9539A= (p.Gln3180=) c.9761A= (p.Gln3254=) c.9515A= (p.Gln3172=) c.4784A= (p.Gln1595=) c.2534A= (p.Gln845=) c.3497A= (p.Gln1166=) | dbSNP |