| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.120999604A>C | CA386973324 | HNF1A | c.*492A>C (n.*492A>C) c.1745A>C (p.His582Pro) c.*1185A>C (n.*1185A>C) c.1838A>C (p.His613Pro) c.1208A>C (p.His403Pro) c.1766A>C (p.His589Pro) c.1562A>C c.533A>C (p.His178Pro) c.*154A>C (n.*154A>C) | dbSNP |
| 12 | g.120999604A>T | CA386973328 | HNF1A | c.*492A>T (n.*492A>T) c.1745A>T (p.His582Leu) c.*1185A>T (n.*1185A>T) c.1838A>T (p.His613Leu) c.1208A>T (p.His403Leu) c.1766A>T (p.His589Leu) c.1562A>T c.533A>T (p.His178Leu) c.*154A>T (n.*154A>T) | dbSNP |
| 12 | g.120999604A>G | CA214288 | HNF1A | c.*492A>G (n.*492A>G) c.1745A>G (p.His582Arg) c.*1185A>G (n.*1185A>G) c.1838A>G (p.His613Arg) c.1208A>G (p.His403Arg) c.1766A>G (p.His589Arg) c.1562A>G c.533A>G (p.His178Arg) c.*154A>G (n.*154A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |