| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49611297G>C | CA16042221 | CHAT,SLC18A3 | c.557G>C (p.Gly186Ala) c.-69+2098G>C (n.-69+2098G>C) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49611297G= | CA1908793289 | CHAT,SLC18A3 | c.557G= (p.Gly186=) c.-69+2098G= (n.-69+2098G=) | dbSNP |