Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.5893491G>A | CA149099 | NLGN4X | c.1777C>T (p.Leu593Phe) c.1837C>T (p.Leu613Phe) n.277+9586C>T c.1780C>T (p.Leu594Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.5893491G>C | CA10340972 | NLGN4X | c.1777C>G (p.Leu593Val) c.1837C>G (p.Leu613Val) n.277+9586C>G c.1780C>G (p.Leu594Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.5893491G>T | CA412013705 | NLGN4X | c.1777C>A (p.Leu593Ile) c.1837C>A (p.Leu613Ile) n.277+9586C>A c.1780C>A (p.Leu594Ile) | dbSNP gnomAD v2 gnomAD v4 |