| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127668159C>T | CA302345 | STXBP1 | c.832C>T (p.Arg278Cys) c.874C>T (p.Arg292Cys) c.*516C>T (n.*516C>T) c.*1738C>T (n.*1738C>T) c.816C>T n.710C>T c.865C>T (p.Arg289Cys) c.795-1739C>T (n.795-1739C>T) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.127668159C= | CA1879913603 | STXBP1 | c.832C= (p.Arg278=) c.874C= (p.Arg292=) c.*516C= (n.*516C=) c.*1738C= (n.*1738C=) c.816C= n.710C= c.865C= (p.Arg289=) c.795-1739C= (n.795-1739C=) | dbSNP |