| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127666206G>A | CA303075 | STXBP1 | c.662G>A (p.Arg221Gln) c.704G>A (p.Arg235Gln) c.*346G>A (n.*346G>A) c.*1568G>A (n.*1568G>A) c.646G>A n.540G>A c.695G>A (p.Arg232Gln) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.127666206G= | CA1879911580 | STXBP1 | c.662G= (p.Arg221=) c.704G= (p.Arg235=) c.*346G= (n.*346G=) c.*1568G= (n.*1568G=) c.646G= n.540G= c.695G= (p.Arg232=) | dbSNP dbSNP |