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Table 2 Variants identified in the patient pre-treatment, post-treatment and post-transplant

From: Preleukemic and second-hit mutational events in an acute myeloid leukemia patient with a novel germline RUNX1 mutation

  Gene Chromosome Genomic Coordinate Variant (Genomic) Variant Type VAF pre-treatment (%) VAF post-treatment (%) VAF post-transplant (%)
1 RUNX1 21 36,231,823 NM_001754.4:c.554_560delAAGTCGC Deletion 47.5 45.4 0
2 GATA2 3 128,200,112 NM_032638.4:c.1193G > A Single-nucleotide substitution 15.6 0 0
3 DNMT3A 2 25,463,182 NM_022552.4:c.2311C > T Single-nucleotide substitution 13.9 11.0 0
4 BCORL1 X 129,147,461 NM_021946.4:c.713_714insA Insertion 10.9 5.6 0
5 BCOR X 39,931,609 NM_001123385.1:c.2989delG Deletion 15.7 7.7 0
6 PHF6 X 133,547,693 NM_032458.2:c.585 + 7delA Deletion 6.7 7.2 0
7 PHF6 X 133,551,319 NM_032458.2:c.955C > T Single-nucleotide substitution 14.5 0 0
8 CDKN2A 9 21,971,137 NM_001195132.1:c.221A > C Single-nucleotide substitution 5.1 0 0