Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.127661192C>A | CA374932523 | STXBP1 | c.374C>A (p.Pro125Gln) c.416C>A (p.Pro139Gln) c.*58C>A (n.*58C>A) c.*1280C>A (n.*1280C>A) c.358C>A c.60C>A c.407C>A (p.Pro136Gln) | ClinVar dbSNP |
9 | g.127661192C>T | CA318847 | STXBP1 | c.374C>T (p.Pro125Leu) c.416C>T (p.Pro139Leu) c.*58C>T (n.*58C>T) c.*1280C>T (n.*1280C>T) c.358C>T c.60C>T c.407C>T (p.Pro136Leu) | ClinVar dbSNP |