| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.120999607G>A | CA214668 | HNF1A | c.*495G>A (n.*495G>A) c.1748G>A (p.Arg583Gln) c.*1188G>A (n.*1188G>A) c.1841G>A (p.Arg614Gln) c.1211G>A (p.Arg404Gln) c.1769G>A (p.Arg590Gln) c.1565G>A c.536G>A (p.Arg179Gln) c.*157G>A (n.*157G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120999607G>C | CA386973342 | HNF1A | c.*495G>C (n.*495G>C) c.1748G>C (p.Arg583Pro) c.*1188G>C (n.*1188G>C) c.1841G>C (p.Arg614Pro) c.1211G>C (p.Arg404Pro) c.1769G>C (p.Arg590Pro) c.1565G>C c.536G>C (p.Arg179Pro) c.*157G>C (n.*157G>C) | dbSNP gnomAD v4 |