| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127653713A>G | CA375176162 | STXBP1 | c.46-2A>G (n.46-2A>G) c.88-2A>G (n.88-2A>G) c.30-2A>G c.-24-2A>G (n.-24-2A>G) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.127653713A>C | CA318844 | STXBP1 | c.46-2A>C (n.46-2A>C) c.88-2A>C (n.88-2A>C) c.30-2A>C c.-24-2A>C (n.-24-2A>C) | ClinVar dbSNP |