| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.37704931A>G | CA214346 | HNF1B | c.1325T>C (p.Met442Thr) c.1247T>C (p.Met416Thr) c.*48T>C (n.*48T>C) n.1469+116A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.37704931A= | CA2258515808 | HNF1B | c.1325T= (p.Met442=) c.1247T= (p.Met416=) c.*48T= (n.*48T=) n.1469+116A= | dbSNP |
| 17 | g.37704931A>T | CA398757132 | HNF1B | c.1325T>A (p.Met442Lys) c.1247T>A (p.Met416Lys) c.*48T>A (n.*48T>A) n.1469+116A>T | ClinVar dbSNP |