| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127668083T>G | CA10582613 | STXBP1 | c.756T>G (p.Tyr252Ter) c.798T>G (p.Tyr266Ter) c.*440T>G (n.*440T>G) c.*1662T>G (n.*1662T>G) c.740T>G n.634T>G c.789T>G (p.Tyr263Ter) c.794+1787T>G (n.794+1787T>G) | ClinVar dbSNP |
| 9 | g.127668083T>C | CA5248393 | STXBP1 | c.756T>C (p.Tyr252=) c.798T>C (p.Tyr266=) c.*440T>C (n.*440T>C) c.*1662T>C (n.*1662T>C) c.740T>C n.634T>C c.789T>C (p.Tyr263=) c.794+1787T>C (n.794+1787T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |