Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.37731634G>C | CA8518950 | HNF1B | c.1006C>G (p.His336Asp) c.928C>G (p.His310Asp) n.458C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731634G>T | CA8518951 | HNF1B | c.1006C>A (p.His336Asn) c.928C>A (p.His310Asn) n.458C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.37731634G>A | CA214343 | HNF1B | c.1006C>T (p.His336Tyr) c.928C>T (p.His310Tyr) n.458C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |