| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197093168G>A | CA340325 | ASPM | n.2465C>T c.9178C>T (p.Gln3060Ter) c.9400C>T (p.Gln3134Ter) c.4423C>T (p.Gln1475Ter) c.2173C>T (p.Gln725Ter) c.3136C>T (p.Gln1046Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093168G>C | CA344007229 | ASPM | n.2465C>G c.9178C>G (p.Gln3060Glu) c.9400C>G (p.Gln3134Glu) c.4423C>G (p.Gln1475Glu) c.2173C>G (p.Gln725Glu) c.3136C>G (p.Gln1046Glu) | dbSNP |
| 1 | g.197093168G= | CA1141581331 | ASPM | n.2465C= c.9178C= (p.Gln3060=) c.9400C= (p.Gln3134=) c.4423C= (p.Gln1475=) c.2173C= (p.Gln725=) c.3136C= (p.Gln1046=) | dbSNP dbSNP |