| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.119753304G>A | CA120251 | HMGCS2 | c.1270C>T (p.Arg424Ter) c.1144C>T (p.Arg382Ter) c.1105C>T (p.Arg369Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.119753304G>T | CA420021146 | HMGCS2 | c.1270C>A (p.Arg424=) c.1144C>A (p.Arg382=) c.1105C>A (p.Arg369=) | dbSNP |
| 1 | g.119753304G>C | CA341857977 | HMGCS2 | c.1270C>G (p.Arg424Gly) c.1144C>G (p.Arg382Gly) c.1105C>G (p.Arg369Gly) | dbSNP |