Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.14824201C>G | CA519989895 | NLGN4Y | c.699C>G (p.Thr233=) c.639C>G (p.Thr213=) c.810C>G (p.Thr270=) c.135C>G (p.Thr45=) n.1184C>G n.1113C>G n.878C>G c.264C>G (p.Thr88=) | dbSNP gnomAD v2 |
Y | g.14824201C>T | CA10574290 | NLGN4Y | c.699C>T (p.Thr233=) c.639C>T (p.Thr213=) c.810C>T (p.Thr270=) c.135C>T (p.Thr45=) n.1184C>T n.1113C>T n.878C>T c.264C>T (p.Thr88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |