| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.23808187T>C | CA234122 | HMGCL | c.698A>G (p.His233Arg) c.268A>G c.*739A>G (n.*739A>G) c.485A>G (p.His162Arg) n.333A>G n.389A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.23808187T>G | CA339023502 | HMGCL | c.698A>C (p.His233Pro) c.268A>C c.*739A>C (n.*739A>C) c.485A>C (p.His162Pro) n.333A>C n.389A>C | dbSNP |