| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26204150G>A | CA340815 | HADHA | c.1132C>T (p.Gln378Ter) c.*1023C>T (n.*1023C>T) c.*178C>T (n.*178C>T) c.1027C>T (p.Gln343Ter) c.491C>T c.998C>T (n.998C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.26204150G= | CA1239706414 | HADHA | c.1132C= (p.Gln378=) c.*1023C= (n.*1023C=) c.*178C= (n.*178C=) c.1027C= (p.Gln343=) c.491C= c.998C= (n.998C=) | dbSNP |