| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.46218377C>G | CA123375 | PPARA | c.484C>G (p.Leu162Val) n.694C>G c.78C>G (p.Ala26=) n.799C>G n.798C>G n.802C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.46218377C= | CA2408637492 | PPARA | c.484C= (p.Leu162=) n.694C= c.78C= (p.Ala26=) n.799C= n.798C= n.802C= | dbSNP |