| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127653775dup | CA16042628 | STXBP1 | c.106dup (p.Ile36AsnfsTer14) c.148dup (p.Ile50AsnfsTer14) c.148dup (p.Ile50AsnfsTer?) c.148dup (p.Ile50AsnfsTer16) c.90dup c.37dup (p.Ile13AsnfsTer14) | ClinVar dbSNP |
| 9 | g.127653775A= | CA1879900560 | STXBP1 | c.106A= (p.Ile36=) c.148A= (p.Ile50=) c.90A= c.37A= (p.Ile13=) | dbSNP dbSNP |