| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145196del | CA16618465 | GCK | c.*1337del (n.*1337del) c.*459del (n.*459del) n.565del c.373del (p.Arg125GlyfsTer?) c.1342del (p.Arg448GlyfsTer?) c.1339del (p.Arg447GlyfsTer?) c.1402del (p.Arg468GlyfsTer?) n.351del c.1339del (p.Arg447GlyfsTer17) c.391del (p.Arg131GlyfsTer?) c.1336del (p.Arg446GlyfsTer?) c.1288del (p.Arg430GlyfsTer?) n.719del c.328del (p.Arg110GlyfsTer?) c.199del (p.Arg67GlyfsTer17) c.199del (p.Arg67GlyfsTer?) | ClinVar dbSNP |
| 7 | g.44145196dup | CA2017997774 | GCK | c.*1337dup (n.*1337dup) c.*459dup (n.*459dup) n.565dup c.373dup (p.Arg125ProfsTer12) c.1342dup (p.Arg448ProfsTer12) c.1339dup (p.Arg447ProfsTer12) c.1402dup (p.Arg468ProfsTer12) n.351dup c.1339dup (p.Arg447ProfsTer25) c.391dup (p.Arg131ProfsTer12) c.1336dup (p.Arg446ProfsTer12) c.1288dup (p.Arg430ProfsTer12) n.719dup c.328dup (p.Arg110ProfsTer12) c.199dup (p.Arg67ProfsTer25) c.199dup (p.Arg67ProfsTer12) | ClinVar dbSNP |