Table 1 Somatic mutations in CEBPA, GATA2, ETV6, DDX41, TERT and IDH2 found in patients with AML

CEBPA

c.179dupC

p.Ser61ValfsTer47

Ex1

pathogenic

COSM18632

1

–

c.287_311del

p.Gly96AlafsTer56

Ex1

likely pathogenic

COSV57200088

1

–

c.402G > A

p.Ala134=

Ex1

benign

rs752254340

COSV57196176

1

0.0

c.536T > C

p.Phe179Ser

Ex1

VUS

–

1

–

c.573 C > T

p.His191=

Ex1

benign

rs192240793

COSV57200682

1

0.9

c.937_939dupAAG

p.Lys313dup

Ex1

likely pathogenic

–

1

–

GATA2

c.919 C > T

p.Arg307Trp

Ex5

likely pathogenic

COSM306052

1

–

c.959G > A

p.Arg320His

Ex5

likely pathogenic

rs121964985 COSM249854

1

0.1

c.1085G > A

p.Arg362Gln

Ex6

likely pathogenic

rs867160952

COSM87004

1

–

ETV6

c.463 + 49G > A

NA

Int4

benign

rs17210957

8

–

c.1090G > T

p.Glu364Ter

Ex6

pathogenic

–

1

–

DDX41

c.409 A > G

p.Thr137Ala

Ex5

VUS

–

16

–

TERT

c.835G > A

p.Ala279Thr

Ex2

benign

rs61748181

COSM3760906

2

3.6

c.915G > A

p.Ala305=

Ex2

benign

rs2736098

COSM3760904

15

23.5

c.1573 + 39G > C

NA

Int2

benign

rs79662648

2

–

c.1574-16G > C

NA

Int2

benign

rs79698601

1

0.6

c.2007_2017del

p.Ala670ArgfsTer32

Ex5

pathogenic

–

7

–

c.2018_2019insTT

p.Gly674SerfsTer41

Ex5

pathogenic

–

7

–

c.2020G > A

p.Gly674Ser

Ex5

VUS

rs773813809 COSM6919371

7

0.0

c.2023 C > T

p.Leu675Phe

Ex5

VUS

–

7

–

c.3184G > A

p.Ala1062Thr

Ex15

benign

rs35719940

COSM5019566

1

2.2

c.3324G > A

p.Pro1108=

Ex16

benign

rs35033501

COSM5020092

2

2.9

IDH2

c.327G > A

p.Val109=

Ex3

benign

rs150943639

COSM6867404

1

0.4

c.404 C > A

p.Pro135His

Ex4

likely pathogenic

–

1

–

c.515G > T

p.Arg172Met

Ex4

pathogenic

rs121913503

COSM33732

2

–

c.709 C > A

p.Gln237Lys

Ex6

VUS

–

6

–