Mutational profile in granulocytes from 10 ET patients by exome sequencing
| Sample . | Mutations . | |||||
|---|---|---|---|---|---|---|
| 3 | SCNN1G (21.34) | |||||
| 12 | SHOC2 (22.22) | CASC5 (25.0) | ||||
| 14 | MPL S204P (19.26)* | ASXL1 (20.97)* | EDA (41.18) | |||
| 21 | KPNA1 (28.21) | VPS13D (39.29) | EEA1 (39.79) | SF3B1 (54.55)* | SH2B3 (98.33)* | |
| 24 | FUBP1 (23.88) | PPP1R37 (30.77) | COMP (36.14) | ADCY5 (36.67) | HELZ (37.25) | MPL S204P (47.74)* |
| 25 | ATXN7L1 (21.95) | |||||
| 32 | LYZL2 (30.77) | |||||
| 91 | MPL S505N (23.02)* | DDI1 (24.18) | IMPG2 (24.24) | PPP2R5A (43.75) | SRSF2 (44.35)* | APOL4 (86.52) |
| 92 | JAK2 V617F (11.77)* | ALDH3A2 (28.12) | ||||
| 98 | MPL W515R (23.94)* | |||||
| Sample . | Mutations . | |||||
|---|---|---|---|---|---|---|
| 3 | SCNN1G (21.34) | |||||
| 12 | SHOC2 (22.22) | CASC5 (25.0) | ||||
| 14 | MPL S204P (19.26)* | ASXL1 (20.97)* | EDA (41.18) | |||
| 21 | KPNA1 (28.21) | VPS13D (39.29) | EEA1 (39.79) | SF3B1 (54.55)* | SH2B3 (98.33)* | |
| 24 | FUBP1 (23.88) | PPP1R37 (30.77) | COMP (36.14) | ADCY5 (36.67) | HELZ (37.25) | MPL S204P (47.74)* |
| 25 | ATXN7L1 (21.95) | |||||
| 32 | LYZL2 (30.77) | |||||
| 91 | MPL S505N (23.02)* | DDI1 (24.18) | IMPG2 (24.24) | PPP2R5A (43.75) | SRSF2 (44.35)* | APOL4 (86.52) |
| 92 | JAK2 V617F (11.77)* | ALDH3A2 (28.12) | ||||
| 98 | MPL W515R (23.94)* | |||||
The percentage of VAF is indicated in parentheses.
Driver mutation.