| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.83273505T>C | CA250023 | COQ2 | c.683A>G (p.Asn228Ser) c.533A>G (p.Asn178Ser) c.224A>G (p.Asn75Ser) c.329A>G (p.Asn110Ser) n.842A>G n.858A>G c.-54A>G (n.-54A>G) n.564A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.83273505T= | CA1472710605 | COQ2 | c.683A= (p.Asn228=) c.533A= (p.Asn178=) c.224A= (p.Asn75=) c.329A= (p.Asn110=) n.842A= n.858A= c.-54A= (n.-54A=) n.564A= | dbSNP |