| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.37733611C>T | CA8519014 | HNF1B | c.755G>A (p.Arg252Gln) c.677G>A (p.Arg226Gln) n.207G>A c.663G>A (p.Ser221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.37733611C>G | CA16620399 | HNF1B | c.755G>C (p.Arg252Pro) c.677G>C (p.Arg226Pro) n.207G>C c.663G>C (p.Ser221=) | ClinVar dbSNP |