Table 3:
Novel Mutations
| Gene | Exon | Nucleotide change | Amino acid change |
|---|---|---|---|
| GCK | exon7 | c.G814T | p.E272X |
| GCK | exon4 | c.A388G | p.I130V |
| GCK | exon6 | c.A625C | p.T209P |
| GCK | exon7 | c.A860C | p.Q287P |
| GCK | exon9 | c.T1121C | p.V374A |
| GCK | exon2 | c.A167C | p.K56T |
| GCK | exon3 | c.290dupG | p.G97fs |
| GCK | exon8 | c.T989G | p.F330C |
| GCK | exon6 | c.A614G | p.D205G |
| GCK | exon9 | c.G1225C | p.D409H |
| GCK | exon6 | c.C660A | p.C220X |
| GCK | exon9 | c.C1148G | p.S383W |
| GCK | exon5 | c.565insTATC | p.K190YfsTer8 |
| GCK | exon9 | p.K190YfsTer8 | p.S375Y |
| GCK | exon4 | c.A388G | p.I130V |
| HNF1A | exon1 | c.G214T | p.D72Y |
| HNF1A | exon10 | c.T1885G | p.S629A |
| HNF1B | exon4 | c.A913G | p.K305E |
| HNF4A | exon3 | c.A376T | p.K126X |
| PDX1 | exon1 | c.93delC | p.S31fs |