Table 2.

List of GESMD‐recommended genes for studying the clinical management of MDS and CMML.

Gene	Region	Type of mutation	Frequency
			MDS	CMML
ASXL1	Exons 10–13	Nonsense, frameshift	5–25%	40–50%
	Codons: all
CSNK1A1	Exons 2–4	Missense	5–10%	<1%
	Codons: all
DNMT3A	Complete coding region	All	12–18%	2–10%
	Hotspot codon: R882
EZH2	Complete coding region	Nonsense, frameshift	5–10%	5–12%
	Codons: all
IDH1	Exon 4	Missense	<5%	<1%
	Hotspot codon: R132
IDH2	Exon 4	Missense	<5%	5–10%
	Hotspot codons: R140 and R172
JAK2	Complete coding region	Missense	<5%	2–10%
	Hotspot codon: V617F
KRAS	Exons 2 and 3	Missense	5–10%	10–20%
	Hotspot codons: G12, G13, Q61 and G146
NRAS	Exons 2 and 3	Missense	5–10%	10–20%
	Hotspot codons: G12, G13 and Q61
RUNX1	Complete coding region	Nonsense, frameshift	10–15%	10–30%
	Codons: all
SETBP1	Exon 4	Missense	<5%	5–10%
	Codons: 858–870
SF3B1	Exons 10–16	Missense	20–30% 80% RS	5–10%
	Codons: 622–781
SRSF2	Complete coding region	Missense	10–15%	30–50%
	Hotspot codon: P95
STAG2	Complete coding region	Nonsense, frameshift, splicing	5–10%	5–10%
	Codons: all
TET2	Complete coding region	All	20–25%	45–60%
	Codons: 1134–1444 or 1842–1921
TP53	Complete coding region	All	8–12%	<5%
	Codons: all
U2AF1	Exons 2–6	Missense	8–12%	5–10%
	Hotspot codons: S34 and Q157
ZRSR2	Complete coding region	Nonsense, frameshift	5–10%	5–10%
	Codons: all

GESMD, Spanish Group of MDS; CMML, Chronic Myelomonocytic Leukaemia; MDS, Myelodysplastic Syndrome; RS, ring sideroblasts.