| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.44413724C>T | CA153114 | HNF4A | c.350C>T (p.Thr117Ile) c.416C>T (p.Thr139Ile) c.390C>T n.392C>T n.1540C>T c.*183C>T (n.*183C>T) c.341C>T (p.Thr114Ile) c.395C>T (p.Thr132Ile) c.533C>T (p.Thr178Ile) c.464C>T (p.Thr155Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44413724C= | CA2365761553 | HNF4A | c.350C= (p.Thr117=) c.416C= (p.Thr139=) c.390C= n.392C= n.1540C= c.*183C= (n.*183C=) c.341C= (p.Thr114=) c.395C= (p.Thr132=) c.533C= (p.Thr178=) c.464C= (p.Thr155=) | dbSNP |