| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49625634T>G | CA206631660 | CHAT | c.914T>G (p.Ile305Ser) c.560T>G (p.Ile187Ser) c.668T>G (p.Ile223Ser) c.*645T>G (n.*645T>G) | dbSNP |
| 10 | g.49625634T>C | CA257996 | CHAT | c.914T>C (p.Ile305Thr) c.560T>C (p.Ile187Thr) c.668T>C (p.Ile223Thr) c.*645T>C (n.*645T>C) | ClinVar dbSNP |