Table 1 Driver and nondriver mutations in pure red cell aplasia.

Interpretation	Patient/Age	Classification	VAF	Gene	Functional consequence	Amino acid change	Sample
Driver mutations	PR-17–12/73 y	Idiopathic	0.03915	TET2	Frameshift	p.G641fs	PBMCs
	PR-17–12/73 y	Idiopathic	0.1119	TET2	SNV	p.H1904R	PBMCs
	PR-17–55/81 y	Idiopathic	0.0458	TET2	Frameshift	p.T759fs	PBMCs
	PR-17–50/50 y	Thymoma	0.0486	KDM6A	SNV	p.M1I	PBMCs
	PR-18–76/82 y	LGL-L	0.06955	DNMT3A	Splicing	c.1429+1G>A	WB
			0.32235	TET2	Frameshift	p.P288fs
			0.0617	TET2	Stopgain	p.R1465X
Potential driver mutations	PR-17–12/73 y	Idiopathic	0.4336	ETV6	SNV	p.H308N	PBMCs
	PR-17–47/45 y	Idiopathic	0.07685	DNMT3A	SNV	p.T808I	PBMCs
	PR-17–9/60 y	Idiopathic	0.47025	BCORL1	SNV	p.G1391R	PBMCs
	PR-17–55/81 y	Idiopathic	0.10555	SMC3	SNV	p.K684I	PBMCs
	PR-17–55/81 y	Idiopathic	0.0415	CUX1	SNV	p.S1028P	PBMCs
	PR-17–13/63 y	Thymoma	0.04455	DNMT3A	SNV	p.P799S	PBMCs
	PR-17–50/50 y	Thymoma	0.0903	CUX1	SNV	(c.A1585T)	PBMCs
	PR-18–81/72 y	Thymoma	0.05355	DNMT3A	SNV	p.L373V	WB
	PR-17–51/78 y	Thymic cancer	0.0567	IKZF1	SNV	p.D488N	PBMCs
Nondriver mutations	PR-17–15/56 y	Idiopathic	0.501	KDM6A	SNV	p.A694T	PBMCs
	PR-17–15/56 y	Idiopathic	0.36885	KDM6A	SNV	p.Y80C	PBMCs
	PR-17–53/48 y	Thymoma	0.40885	BCORL1	SNV	p.E1094G	PBMCs
	PR-17–51/78 y	Thymic cancer	0.04125	CDKN2A	SNV	(c.A217T)	PBMCs
	PR-17–51/78 y	Thymic cancer	0.09305	CUX1	SNV	p.Q329R	PBMCs

LGL-L, large granular lymphocyte leukemia; PBMCs, peripheral blood mononuclear cells; WB, whole blood.

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