Table 1.

NF-E2 Mutations detected in MPN patients

UPN Diagnosis Variant cDNA NM_006163.1 Variant protein Genetics JAK2V617F MplW515L ASXL1 (exon 12) TET2 EZH2 
202 PV c.782-785delAGAG p.E261AfsX3 Acquired   -  
209 PV c.782-785delAGAG p.E261AfsX3 Acquired   c.3818G>A p.C1273Y  
241 Post PV-MF c.732_733insG p.L245VfsX5    c.285-309del p.K95NfsX10  
409 PV c.236delCc.234delT p.P79LfsX32p.P79LfsX32 Acquired   c.1276-1277delCT p.L426EfsX16  
442 Post PV-MF c.662_663insG p.E221GfsX7    -  
532 PMF c.889-900del p.E297-R300del Acquired   -  
980 Post ET-MF c.780_781insA p.E261RfsX44 Acquired   -  
2,836 Post ET-MF c.662_663insG p.E221GfsX7  n.d.   -  
UPN Diagnosis Variant cDNA NM_006163.1 Variant protein Genetics JAK2V617F MplW515L ASXL1 (exon 12) TET2 EZH2 
202 PV c.782-785delAGAG p.E261AfsX3 Acquired   -  
209 PV c.782-785delAGAG p.E261AfsX3 Acquired   c.3818G>A p.C1273Y  
241 Post PV-MF c.732_733insG p.L245VfsX5    c.285-309del p.K95NfsX10  
409 PV c.236delCc.234delT p.P79LfsX32p.P79LfsX32 Acquired   c.1276-1277delCT p.L426EfsX16  
442 Post PV-MF c.662_663insG p.E221GfsX7    -  
532 PMF c.889-900del p.E297-R300del Acquired   -  
980 Post ET-MF c.780_781insA p.E261RfsX44 Acquired   -  
2,836 Post ET-MF c.662_663insG p.E221GfsX7  n.d.   -  

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