| 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=) | ClinVar 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 |
| 17 | g.37731691C= | CA3223295358 | HNF1B | c.949G= (p.Ala317=) c.871G= (p.Ala291=) n.401G= c.852G= (p.Thr284=) | dbSNP dbSNP |
| 17 | g.37731691C>G | CA398746543 | HNF1B | c.949G>C (p.Ala317Pro) c.871G>C (p.Ala291Pro) n.401G>C c.852G>C (p.Thr284=) | dbSNP |