Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197093108T>A | CA342291 | ASPM | n.2525A>T c.9238A>T (p.Lys3080Ter) c.9460A>T (p.Lys3154Ter) c.4483A>T (p.Lys1495Ter) c.2233A>T (p.Lys745Ter) c.3196A>T (p.Lys1066Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197093108T>C | CA344006869 | ASPM | n.2525A>G c.9238A>G (p.Lys3080Glu) c.9460A>G (p.Lys3154Glu) c.4483A>G (p.Lys1495Glu) c.2233A>G (p.Lys745Glu) c.3196A>G (p.Lys1066Glu) | dbSNP |