| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.792722G>A | CA208268 | SLC25A22 | c.418C>T (p.Gln140Ter) c.493C>T (p.Gln165Ter) c.*204C>T (n.*204C>T) c.406C>T (p.Gln136Ter) n.286C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.792722G= | CA1947306494 | SLC25A22 | c.418C= (p.Gln140=) c.493C= (p.Gln165=) c.*204C= (n.*204C=) c.406C= (p.Gln136=) n.286C= | dbSNP |