| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68793370G>A | CA6152484 | CPT1A | c.912C>T (p.Cys304=) c.168C>T (p.Cys56=) c.1008C>T (p.Cys336=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68793370G>C | CA344987 | CPT1A | c.912C>G (p.Cys304Trp) c.168C>G (p.Cys56Trp) c.1008C>G (p.Cys336Trp) | ClinVar dbSNP |
| 11 | g.68793370G= | CA3182674352 | CPT1A | c.912C= (p.Cys304=) c.168C= (p.Cys56=) c.1008C= (p.Cys336=) | dbSNP |