| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68812532C>T | CA16041544 | CPT1A | c.186G>A (p.Trp62Ter) c.282G>A (p.Trp94Ter) | ClinVar dbSNP |
| 11 | g.68812532C>A | CA381638101 | CPT1A | c.186G>T (p.Trp62Cys) c.282G>T (p.Trp94Cys) | dbSNP gnomAD v4 |
| 11 | g.68812532C= | CA3183114574 | CPT1A | c.186G= (p.Trp62=) c.282G= (p.Trp94=) | dbSNP |