| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.44406498C>T | CA14788733 | HNF4A | c.224+266C>T (n.224+266C>T) c.290+266C>T (n.290+266C>T) c.264+266C>T c.266+266C>T (n.266+266C>T) c.243+266C>T n.266+266C>T n.532C>T c.247+266C>T (n.247+266C>T) c.*57+266C>T (n.*57+266C>T) c.215+266C>T (n.215+266C>T) c.269+266C>T (n.269+266C>T) c.407+266C>T (n.407+266C>T) c.338+266C>T (n.338+266C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44406498C>A | CA2365758188 | HNF4A | c.224+266C>A (n.224+266C>A) c.290+266C>A (n.290+266C>A) c.264+266C>A c.266+266C>A (n.266+266C>A) c.243+266C>A n.266+266C>A n.532C>A c.247+266C>A (n.247+266C>A) c.*57+266C>A (n.*57+266C>A) c.215+266C>A (n.215+266C>A) c.269+266C>A (n.269+266C>A) c.407+266C>A (n.407+266C>A) c.338+266C>A (n.338+266C>A) | dbSNP |