| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.44413709G>A | CA409105430 | HNF4A | c.335G>A (p.Arg112Gln) c.401G>A (p.Arg134Gln) c.375G>A n.377G>A n.1525G>A c.*168G>A (n.*168G>A) c.326G>A (p.Arg109Gln) c.380G>A (p.Arg127Gln) c.518G>A (p.Arg173Gln) c.449G>A (p.Arg150Gln) | ClinVar dbSNP gnomAD v4 |
| 20 | g.44413709G= | CA2365761547 | HNF4A | c.335G= (p.Arg112=) c.401G= (p.Arg134=) c.375G= n.377G= n.1525G= c.*168G= (n.*168G=) c.326G= (p.Arg109=) c.380G= (p.Arg127=) c.518G= (p.Arg173=) c.449G= (p.Arg150=) | dbSNP |