| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68760296G>A | CA6152102 | CPT1A | c.2071C>T (p.Gln691Ter) c.2167C>T (p.Gln723Ter) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.68760296G= | CA3182841596 | CPT1A | c.2071C= (p.Gln691=) c.2167C= (p.Gln723=) | dbSNP |
| 11 | g.68760296G>C | CA381625901 | CPT1A | c.2071C>G (p.Gln691Glu) c.2167C>G (p.Gln723Glu) | dbSNP gnomAD v4 |