| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.120999522C>T | CA214281 | HNF1A | c.*410C>T (n.*410C>T) c.1663C>T (p.Leu555Phe) c.*1103C>T (n.*1103C>T) c.1756C>T (p.Leu586Phe) c.1126C>T (p.Leu376Phe) c.1684C>T (p.Leu562Phe) c.1480C>T c.451C>T (p.Leu151Phe) c.*72C>T (n.*72C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120999522C= | CA2067691665 | HNF1A | c.*410C= (n.*410C=) c.1663C= (p.Leu555=) c.*1103C= (n.*1103C=) c.1756C= (p.Leu586=) c.1126C= (p.Leu376=) c.1684C= (p.Leu562=) c.1480C= c.451C= (p.Leu151=) c.*72C= (n.*72C=) | dbSNP |