Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186208931A>C | CA343706 | CYP4V2 | c.1157A>C (p.Lys386Thr) n.392A>C n.5855A>C n.247A>C c.761A>C (p.Lys254Thr) | ClinVar dbSNP |
4 | g.186208931A>G | CA3162772 | CYP4V2 | c.1157A>G (p.Lys386Arg) n.392A>G n.5855A>G n.247A>G c.761A>G (p.Lys254Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186208931A= | CA1519891315 | CYP4V2 | c.1157A= (p.Lys386=) n.392A= n.5855A= n.247A= c.761A= (p.Lys254=) | dbSNP |