| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.234374366G>A | CA345294503 | COA6 | c.349G>A (p.Glu117Lys) c.121G>A (p.Glu41Lys) c.259G>A (p.Glu87Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.234374366G>T | CA170599 | COA6 | c.349G>T (p.Glu117Ter) c.121G>T (p.Glu41Ter) c.259G>T (p.Glu87Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |