| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68796900G>T | CA6152556 | CPT1A | c.727C>A (p.Arg243=) c.-18C>A (n.-18C>A) c.823C>A (p.Arg275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68796900G>A | CA16041541 | CPT1A | c.727C>T (p.Arg243Ter) c.-18C>T (n.-18C>T) c.823C>T (p.Arg275Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |