| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.133373329G>A | CA214806 | ECHS1 | c.5C>T (p.Ala2Val) n.68C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.133373329G>C | CA378824559 | ECHS1 | c.5C>G (p.Ala2Gly) n.68C>G | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.133373329G>T | CA378824560 | ECHS1 | c.5C>A (p.Ala2Asp) n.68C>A | dbSNP gnomAD v4 |