| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127653734T>G | CA375176209 | STXBP1 | c.65T>G (p.Leu22Ter) c.107T>G (p.Leu36Ter) c.49T>G c.-5T>G (n.-5T>G) | ClinVar dbSNP |
| 9 | g.127653734T= | CA1879900495 | STXBP1 | c.65T= (p.Leu22=) c.107T= (p.Leu36=) c.49T= c.-5T= (n.-5T=) | dbSNP |
| 9 | g.127653734T>A | CA375176207 | STXBP1 | c.65T>A (p.Leu22Ter) c.107T>A (p.Leu36Ter) c.49T>A c.-5T>A (n.-5T>A) | ClinVar dbSNP |