| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.100214885G>A | CA221903 | DBT | c.871C>T (p.Arg291Ter) c.328C>T (p.Arg110Ter) n.891C>T n.888C>T n.703C>T n.885C>T n.668C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.100214885G>C | CA341337389 | DBT | c.871C>G (p.Arg291Gly) c.328C>G (p.Arg110Gly) n.891C>G n.888C>G n.703C>G n.885C>G n.668C>G | dbSNP |