| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127661140C>T | CA203284 | STXBP1 | c.322C>T (p.Arg108Ter) c.364C>T (p.Arg122Ter) c.*6C>T (n.*6C>T) c.*1228C>T (n.*1228C>T) c.306C>T c.8C>T c.253C>T (p.Arg85Ter) c.355C>T (p.Arg119Ter) | ClinVar dbSNP |
| 9 | g.127661140C>A | CA467221216 | STXBP1 | c.322C>A (p.Arg108=) c.364C>A (p.Arg122=) c.*6C>A (n.*6C>A) c.*1228C>A (n.*1228C>A) c.306C>A c.8C>A c.253C>A (p.Arg85=) c.355C>A (p.Arg119=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127661140C>G | CA374932306 | STXBP1 | c.322C>G (p.Arg108Gly) c.364C>G (p.Arg122Gly) c.*6C>G (n.*6C>G) c.*1228C>G (n.*1228C>G) c.306C>G c.8C>G c.253C>G (p.Arg85Gly) c.355C>G (p.Arg119Gly) | ClinVar dbSNP |