| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.100216085C>A | CA221900 | DBT | c.670G>T (p.Glu224Ter) c.127G>T (p.Glu43Ter) n.690G>T n.687G>T n.502G>T n.684G>T n.570-1102G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.100216085C= | CA1140870841 | DBT | c.670G= (p.Glu224=) c.127G= (p.Glu43=) n.690G= n.687G= n.502G= n.684G= n.570-1102G= | dbSNP |