| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68812436C>T | CA221858 | CPT1A | c.281+1G>A (n.281+1G>A) c.377+1G>A (n.377+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812436C>A | CA381637704 | CPT1A | c.281+1G>T (n.281+1G>T) c.377+1G>T (n.377+1G>T) | ClinVar dbSNP |
| 11 | g.68812436C= | CA2838001472 | CPT1A | c.281+1G= (n.281+1G=) c.377+1G= (n.377+1G=) | dbSNP |