Table 3. MODY gene variants present in at least 10% of the cohort.
Gene | Variant | Allele Frequency in cohort |
---|---|---|
HNF1B | n.-1954G>C | 0.25 |
HNF4A | n.506+2275_506+2276insGA | 0.25 |
BLK | c.-2+5745G>A | 0.16 |
BLK | c.-2+7277_-2+7278delGT | 0.16 |
BLK | c.-2+7280_-2+7281insAA | 0.16 |
ABCC8 | c.822+339G>T | 0.16 |
NEUROD1 | c.*677A>T | 0.16 |
APPL1 | n.*2030C>T | 0.16 |