| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197090073T>C | CA344001293 | ASPM | n.3128A>G c.9841A>G (p.Arg3281Gly) c.10063A>G (p.Arg3355Gly) c.9817A>G (p.Arg3273Gly) c.5086A>G (p.Arg1696Gly) c.2836A>G (p.Arg946Gly) c.3799A>G (p.Arg1267Gly) | dbSNP |
| 1 | g.197090073T>A | CA342315 | ASPM | n.3128A>T c.9841A>T (p.Arg3281Ter) c.10063A>T (p.Arg3355Ter) c.9817A>T (p.Arg3273Ter) c.5086A>T (p.Arg1696Ter) c.2836A>T (p.Arg946Ter) c.3799A>T (p.Arg1267Ter) | ClinVar dbSNP |