| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.120999606C>T | CA386973338 | HNF1A | c.*494C>T (n.*494C>T) c.1747C>T (p.Arg583Trp) c.*1187C>T (n.*1187C>T) c.1840C>T (p.Arg614Trp) c.1210C>T (p.Arg404Trp) c.1768C>T (p.Arg590Trp) c.1564C>T c.535C>T (p.Arg179Trp) c.*156C>T (n.*156C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120999606C>G | CA214665 | HNF1A | c.*494C>G (n.*494C>G) c.1747C>G (p.Arg583Gly) c.*1187C>G (n.*1187C>G) c.1840C>G (p.Arg614Gly) c.1210C>G (p.Arg404Gly) c.1768C>G (p.Arg590Gly) c.1564C>G c.535C>G (p.Arg179Gly) c.*156C>G (n.*156C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120999606C= | CA2067692429 | HNF1A | c.*494C= (n.*494C=) c.1747C= (p.Arg583=) c.*1187C= (n.*1187C=) c.1840C= (p.Arg614=) c.1210C= (p.Arg404=) c.1768C= (p.Arg590=) c.1564C= c.535C= (p.Arg179=) c.*156C= (n.*156C=) | dbSNP |
| 12 | g.120999606C>A | CA482431265 | HNF1A | c.*494C>A (n.*494C>A) c.1747C>A (p.Arg583=) c.*1187C>A (n.*1187C>A) c.1840C>A (p.Arg614=) c.1210C>A (p.Arg404=) c.1768C>A (p.Arg590=) c.1564C>A c.535C>A (p.Arg179=) c.*156C>A (n.*156C>A) | ClinVar dbSNP gnomAD v4 |