| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.44428368C>G | CA213892 | HNF4A | c.1097C>G (p.Pro366Arg) c.1163C>G (p.Pro388Arg) c.*930C>G (n.*930C>G) c.1088C>G (p.Pro363Arg) c.1142C>G (p.Pro381Arg) c.1280C>G (p.Pro427Arg) c.1211C>G (p.Pro404Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44428368C>A | CA9870480 | HNF4A | c.1097C>A (p.Pro366His) c.1163C>A (p.Pro388His) c.*930C>A (n.*930C>A) c.1088C>A (p.Pro363His) c.1142C>A (p.Pro381His) c.1280C>A (p.Pro427His) c.1211C>A (p.Pro404His) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 20 | g.44428368C= | CA2365768117 | HNF4A | c.1097C= (p.Pro366=) c.1163C= (p.Pro388=) c.*930C= (n.*930C=) c.1088C= (p.Pro363=) c.1142C= (p.Pro381=) c.1280C= (p.Pro427=) c.1211C= (p.Pro404=) | dbSNP |