| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49611932G>C | CA16042222 | CHAT,SLC18A3 | c.1192G>C (p.Asp398His) c.-69+2733G>C (n.-69+2733G>C) | ClinVar dbSNP |
| 10 | g.49611932G>A | CA376722230 | CHAT,SLC18A3 | c.1192G>A (p.Asp398Asn) c.-69+2733G>A (n.-69+2733G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |