Table 3 Mll2 mutations detected in exome sequencing and screening samples
Position | Ref | Var | Type | Function | Change |
|---|---|---|---|---|---|
chr12:49447023 | C | C/T | ADC | missense | M307I |
chr12:49444329 | G | A/G | SCC | frameshift | I1015fs |
chr12:49438733 | C | C/T | ADC | missense | R1586H |
chr12:49434627 | G | G/T | ADC | stop-gained | S2309X |
chr12:49434618 | G | A/G | ADC | missense | S2312L |
chr12:49433784 | G | A/G | ADC | missense | S2590L |
chr12:49431391 | C | A/C | ADC | stop-gained | E3250X |
chr12:49431181 | C | C/T | SCC | missense | A3320T |
chr12:49430932 | C | A/C | ADC | missense | A3403S |
chr12:49426241 | G | A/G | ADC | stop-gained | Q4083X |
chr12:49426235 | G | A/G | ADC | stop-gained | Q4085X |
chr12:49425577 | G | A/G | ADC | missense | P4304L |
