| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186191887C>T | CA358946481 | CYP4V2 | c.64C>T (p.Leu22Phe) c.-247C>T (n.-247C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.186191887C>G | CA149664 | CYP4V2 | c.64C>G (p.Leu22Val) c.-247C>G (n.-247C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186191887C= | CA1519910805 | CYP4V2 | c.64C= (p.Leu22=) c.-247C= (n.-247C=) | dbSNP |