| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.100216030G>C | CA16040653 | DBT | c.725C>G (p.Ser242Ter) c.182C>G (p.Ser61Ter) n.745C>G n.742C>G n.557C>G n.739C>G n.570-1047C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.100216030G>A | CA341338298 | DBT | c.725C>T (p.Ser242Leu) c.182C>T (p.Ser61Leu) n.745C>T n.742C>T n.557C>T n.739C>T n.570-1047C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.100216030G>T | CA27590849 | DBT | c.725C>A (p.Ser242Ter) c.182C>A (p.Ser61Ter) n.745C>A n.742C>A n.557C>A n.739C>A n.570-1047C>A | dbSNP |