| 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 |
| 20 | g.44413714C= | CA2365761548 | HNF4A | c.340C= (p.Arg114=) c.406C= (p.Arg136=) c.380C= n.382C= n.1530C= c.*173C= (n.*173C=) c.331C= (p.Arg111=) c.385C= (p.Arg129=) c.523C= (p.Arg175=) c.454C= (p.Arg152=) | dbSNP |
| 20 | g.44413714C>A | CA510582592 | HNF4A | c.340C>A (p.Arg114=) c.406C>A (p.Arg136=) c.380C>A n.382C>A n.1530C>A c.*173C>A (n.*173C>A) c.331C>A (p.Arg111=) c.385C>A (p.Arg129=) c.523C>A (p.Arg175=) c.454C>A (p.Arg152=) | dbSNP gnomAD v4 |