Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197125190G>T | CA1310289 | ASPM | n.890C>A c.2938C>A (p.Arg980=) n.994C>A c.688C>A (p.Arg230=) c.561+18501C>A (n.561+18501C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197125190G>A | CA342231 | ASPM | n.890C>T c.2938C>T (p.Arg980Ter) n.994C>T c.688C>T (p.Arg230Ter) c.561+18501C>T (n.561+18501C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |