| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145227A>T | CA213751 | GCK | c.*1305T>A (n.*1305T>A) c.*427T>A (n.*427T>A) n.533T>A c.341T>A (p.Ile114Asn) c.1310T>A (p.Ile437Asn) c.1307T>A (p.Ile436Asn) c.1370T>A (p.Ile457Asn) n.319T>A c.359T>A (p.Ile120Asn) c.1304T>A (p.Ile435Asn) c.1256T>A (p.Ile419Asn) n.687T>A c.296T>A (p.Ile99Asn) c.167T>A (p.Ile56Asn) | ClinVar dbSNP |
| 7 | g.44145227A= | CA1703612686 | GCK | c.*1305T= (n.*1305T=) c.*427T= (n.*427T=) n.533T= c.341T= (p.Ile114=) c.1310T= (p.Ile437=) c.1307T= (p.Ile436=) c.1370T= (p.Ile457=) n.319T= c.359T= (p.Ile120=) c.1304T= (p.Ile435=) c.1256T= (p.Ile419=) n.687T= c.296T= (p.Ile99=) c.167T= (p.Ile56=) | dbSNP |
| 7 | g.44145227A>G | CA367397091 | GCK | c.*1305T>C (n.*1305T>C) c.*427T>C (n.*427T>C) n.533T>C c.341T>C (p.Ile114Thr) c.1310T>C (p.Ile437Thr) c.1307T>C (p.Ile436Thr) c.1370T>C (p.Ile457Thr) n.319T>C c.359T>C (p.Ile120Thr) c.1304T>C (p.Ile435Thr) c.1256T>C (p.Ile419Thr) n.687T>C c.296T>C (p.Ile99Thr) c.167T>C (p.Ile56Thr) | dbSNP |