| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.44424116C>T | CA207744 | HNF4A | c.925C>T (p.Arg309Cys) c.991C>T (p.Arg331Cys) c.965C>T c.*758C>T (n.*758C>T) c.916C>T (p.Arg306Cys) c.970C>T (p.Arg324Cys) c.1108C>T (p.Arg370Cys) c.1039C>T (p.Arg347Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44424116C>A | CA409108243 | HNF4A | c.925C>A (p.Arg309Ser) c.991C>A (p.Arg331Ser) c.965C>A c.*758C>A (n.*758C>A) c.916C>A (p.Arg306Ser) c.970C>A (p.Arg324Ser) c.1108C>A (p.Arg370Ser) c.1039C>A (p.Arg347Ser) | ClinVar dbSNP gnomAD v4 |