Table 2 Driver and nondriver mutations in aplastic anemia and myeloid neoplasms.

From: Clonal hematopoiesis in adult pure red cell aplasia

Interpretation

Patient/Age

Disease

VAF

Gene

Functional consequence

Amino acid change

Sample

Driver mutations

PR-17–25/72 y

Aplastic anemia

0.1105

ASXL1

Frameshift

p.P808fs

PBMCs

PR-17–2/82 y

MDS-MLD

0.07735

U2AF1

SNV

p.S34F

WB

PR-17–39/NA

MDS-MLD

0.49555

SRSF2

SNV

p.P95L

WB

0.0864

CBL

SNV

p.L380P

0.1591

GNAS

SNV

p.R201H

PR-17–40/NA

MDS-MLD

0.3232

U2AF1

SNV

p.Q157R

WB

PR-17–41/NA

AML-MRC

0.04445

ZRSR2

Stopgain

p.K106X

WB

PR-18–77/70 y

MPN/MDS

0.0324

ASXL1

Frameshift

p.G642fs

WB

PR-18–78/73 y

MDS-SLD

0.7453

EZH2

SNV

p.D659G

WB

PR19-95/80 y

MDS-EB2

0.4073

SF3B1

SNV

p.K700E

WB

0.40385

RUNX1

Stopgain

p.R201X

0.3342

PTPN11

SNV

p.N58Y

MDS-L2007

Cell line

0.67895

CEBPA

Stopgain

p.Q311X

Cell line

0.6548

NRAS

SNV

p.G12A

0.9569

TP53

Splicing

c.672+1G>A

Potential driver mutations

PR-18–77/70 y

MPN/MDS

0.74965

CUX1

Frameshift

p.R254fs

WB

PR-18–78/73 y

MDS-SLD

0.0345

BCOR

Frameshift

p.E1182fs

WB

Nondriver mutations

PR-18–70/NA

MDS-EB1

0.04745

NOTCH1

SNV

p.L1531M

WB

  1. MDS myelodysplastic syndrome, MDS-MLD MDS with multilineage dysplasia, AML-MRC acute myeloid leukemia with myelodysplasia-related changes, MPN, myeloproliferative neoplasm, MDS-SLD MDS with single lineage dysplasia, MDS-EB MDS with excess blasts, NA not available, PBMCs peripheral blood mononuclear cells, WB whole blood.