| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.120999579A>G | CA214285 | HNF1A | c.*467A>G (n.*467A>G) c.1720A>G (p.Ser574Gly) c.*1160A>G (n.*1160A>G) c.1813A>G (p.Ser605Gly) c.1183A>G (p.Ser395Gly) c.1741A>G (p.Ser581Gly) c.1537A>G c.508A>G (p.Ser170Gly) c.*129A>G (n.*129A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120999579A>C | CA386973187 | HNF1A | c.*467A>C (n.*467A>C) c.1720A>C (p.Ser574Arg) c.*1160A>C (n.*1160A>C) c.1813A>C (p.Ser605Arg) c.1183A>C (p.Ser395Arg) c.1741A>C (p.Ser581Arg) c.1537A>C c.508A>C (p.Ser170Arg) c.*129A>C (n.*129A>C) | dbSNP |
| 12 | g.120999579A>T | CA386973196 | HNF1A | c.*467A>T (n.*467A>T) c.1720A>T (p.Ser574Cys) c.*1160A>T (n.*1160A>T) c.1813A>T (p.Ser605Cys) c.1183A>T (p.Ser395Cys) c.1741A>T (p.Ser581Cys) c.1537A>T c.508A>T (p.Ser170Cys) c.*129A>T (n.*129A>T) | dbSNP |