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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