| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.44414519G>A | CA213951 | HNF4A | c.439G>A (p.Val147Ile) c.505G>A (p.Val169Ile) c.479G>A n.481G>A n.1629G>A c.*272G>A (n.*272G>A) c.430G>A (p.Val144Ile) c.484G>A (p.Val162Ile) c.622G>A (p.Val208Ile) c.553G>A (p.Val185Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44414519G>T | CA409105895 | HNF4A | c.439G>T (p.Val147Phe) c.505G>T (p.Val169Phe) c.479G>T n.481G>T n.1629G>T c.*272G>T (n.*272G>T) c.430G>T (p.Val144Phe) c.484G>T (p.Val162Phe) c.622G>T (p.Val208Phe) c.553G>T (p.Val185Phe) | dbSNP gnomAD v4 |
| 20 | g.44414519G= | CA2365761943 | HNF4A | c.439G= (p.Val147=) c.505G= (p.Val169=) c.479G= n.481G= n.1629G= c.*272G= (n.*272G=) c.430G= (p.Val144=) c.484G= (p.Val162=) c.622G= (p.Val208=) c.553G= (p.Val185=) | dbSNP |