| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.37731691C>T | CA398746541 | HNF1B | c.949G>A (p.Ala317Thr) c.871G>A (p.Ala291Thr) n.401G>A c.852G>A (p.Thr284=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.37731691C>A | CA214369 | HNF1B | c.949G>T (p.Ala317Ser) c.871G>T (p.Ala291Ser) n.401G>T c.852G>T (p.Thr284=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |