Table 1.
Subjects with known mutations used to validate the gene panel.
| Patient | Gender | Gene | Nucleotide | Amino Acid | Zygosity |
|---|---|---|---|---|---|
| 1 | M | ABCC8 | c.3440T>G, c.4135C>T | p.Leu1147Arg, p.Arg1379Cys | Comp HET |
| 2 | M | EIF2AK3 | c.1267dup | p.Ile423Asnfs*26 | HOMO |
| 3 | M | GATA6 | c.1088_1098del | p.Gln363Argfs*96 | HET |
| 4 | F | KCNJ11 | c.602G>A | p.Arg201His | HET |
| 5 | F | KCNJ11 | c.5T>C | p.Leu2Pro | HET |
| 6 | M | RFX6 | c.779A>C | p.Lys260Thr | HOMO |
| 7 | F | FOXP3 | c.1044+5G>A | p.? | HET |
| 8 | M | FOXP3 | c.340C>T | p.Arg114Trp | HEMI |
| 9 | M | FOXP3 | c.1227_1235del | p.Asp409_Leu411del | HOMO |
| 10 | M | GCK | c.449T>A | p.Phe150Tyr | HET |
| 11 | F | GCK | c.617C>T | p.Thr206Met | HET |
| 12 | M | GCK | c.766G>A | p.Glu256Lys | HET |
| 13 | M | HNF1A | c.476G>A | p.Arg159Gln | HET |
| 14 | M | HNF1A | c.872dup | p.Gly292Argfs*25 | HET |
| 15 | F | HNF1A | c.862G>T | p.Gly288Trp | HET |
| 16 | F | HNF1A | c.872del | p.Pro291Glnfs*51 | HET |
| 17 | M | HNF4A | c.416C>T | p.Arg134Gln | HET |
| 18 | F | INSR | c.1268+2T>C | p.? | HOM |
| 19 | M | PDX1 | c.188del | p.Pro63Argfs*60 | HET |