| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.31644800G>A | CA115666 | COX4I2 | c.412G>A (p.Glu138Lys) n.310G>A c.427G>A (p.Glu143Lys) c.295G>A (p.Glu99Lys) c.280G>A (p.Glu94Lys) c.313G>A (p.Glu105Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31644800G>T | CA9801983 | COX4I2 | c.412G>T (p.Glu138Ter) n.310G>T c.427G>T (p.Glu143Ter) c.295G>T (p.Glu99Ter) c.280G>T (p.Glu94Ter) c.313G>T (p.Glu105Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |