| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.44413714C>T | CA120206 | HNF4A | c.340C>T (p.Arg114Trp) c.406C>T (p.Arg136Trp) c.380C>T n.382C>T n.1530C>T c.*173C>T (n.*173C>T) c.331C>T (p.Arg111Trp) c.385C>T (p.Arg129Trp) c.523C>T (p.Arg175Trp) c.454C>T (p.Arg152Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413714C>G | CA315408365 | HNF4A | c.340C>G (p.Arg114Gly) c.406C>G (p.Arg136Gly) c.380C>G n.382C>G n.1530C>G c.*173C>G (n.*173C>G) c.331C>G (p.Arg111Gly) c.385C>G (p.Arg129Gly) c.523C>G (p.Arg175Gly) c.454C>G (p.Arg152Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |