| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.100214855G>C | CA341337118 | DBT | c.901C>G (p.Arg301Gly) c.358C>G (p.Arg120Gly) n.921C>G n.918C>G n.733C>G n.915C>G n.698C>G | dbSNP gnomAD v2 |
| 1 | g.100214855G>A | CA275397 | DBT | c.901C>T (p.Arg301Cys) c.358C>T (p.Arg120Cys) n.921C>T n.918C>T n.733C>T n.915C>T n.698C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |