| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.57459583C>T | CA114275 | COQ9 | c.730C>T (p.Arg244Ter) c.304-1589C>T (n.304-1589C>T) c.*78C>T (n.*78C>T) c.742C>T (p.Arg248Ter) c.502C>T (p.Arg168Ter) c.625C>T (p.Arg209Ter) c.397C>T (p.Arg133Ter) n.245C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57459583C= | CA2224622115 | COQ9 | c.730C= (p.Arg244=) c.304-1589C= (n.304-1589C=) c.*78C= (n.*78C=) c.742C= (p.Arg248=) c.502C= (p.Arg168=) c.625C= (p.Arg209=) c.397C= (p.Arg133=) n.245C= | dbSNP |