GATA1 Database

GATA1 Visualization

The GATA1 Database is a curated repository of germline GATA1 variants identified in patients through published literature. Our goal is to provide a comprehensive knowledge base for understanding germline GATA1 disorders.

If you are interested in contributing variants, please contact wlodarskilab@stjude.org

GATA1 transcript version is NM_002049.3. Curated by Lili Kotmayer, MD, PhD. Last updated: 07/29/2025.

Patient ID	GATA1 mutation (cDNA)	GATA1 mutation (Protein)	Type of mutation	Zygosity	GATA1s produced only	gnomAD (v4.1.0) population frequency	Year of reporting	PMID	Patient also reported in (PMID)	Original patient ID	Disease	Gender (M/F)	Age at first presentation	Red blood cells	Thrombocytes	Bleeding history	WBC	Bone marrow	Karyotype	Organomegaly	Heme malignancy	Other symptoms	Notes
P001	c.613G>A	p.Val205Met	Missense	Heterozygous		Absent	2000	10700180		I-2	X-linked severe dyserythropoietic anemia and thrombocytopenia	F	28 years		Mild chronic thrombocytopenia
P002	c.613G>A	p.Val205Met	Missense	Hemizygous		Absent	2000	10700180		II-1	X-linked severe dyserythropoietic anemia and thrombocytopenia	M	8 months	Anemia	Severe thrombocytopenia			Hypercellular, dyserythropoiesis, dysplastic megakaryocytes				Cryptorchidism	In utero fetal blood transfusion
P003	c.613G>A	p.Val205Met	Missense	Hemizygous		Absent	2000	10700180		II-2	X-linked severe dyserythropoietic anemia and thrombocytopenia	M	23 months	Anemia	Severe thrombocytopenia			Hypercellular, dyserythropoiesis, dysplastic megakaryocytes				Cryptorchidism	In utero fetal blood transfusion
P004	c.647G>A	p.Arg216Gln	Missense	Hemizygous		0.00025%	2000	10733494	12200364, 15701726	III-5	X-linked thrombocytopenia with thalassemia	M	NA	Elevated HbA2 levels	Severe thrombocytopenia
P005	c.647G>A	p.Arg216Gln	Missense	Hemizygous		0.00025%	2000	10733494	12200364, 15701726	III-7	X-linked thrombocytopenia with thalassemia	M	NA	Elevated HbA2 levels	Severe thrombocytopenia
P006	c.647G>A	p.Arg216Gln	Missense	Hemizygous		0.00025%	2000	10733494	12200364, 15701726	IV-3	X-linked thrombocytopenia with thalassemia	M	NA	Elevated HbA2 levels	Severe thrombocytopenia
P007	c.622_623delinsTC	p.Gly208Ser	Missense	Heterozygous		Absent	2001	11675338		I-2	Asymptomatic	F	NA
P008	c.622_623delinsTC	p.Gly208Ser	Missense	Hemizygous		Absent	2001	11675338		II-2	X-linked macrothrombocytopenia and mild dyserythropoiesis without anemia	M	NA		Macrothrombocytopenia	Recurrent epistaxis, easy bruising, petechiae, prolonged bleeding, GI bleeding secondary to gastritis or peptic ulcer		Mild dyserythropoiesis					Elevated TPO levels
P009	c.622_623delinsTC	p.Gly208Ser	Missense	Hemizygous		Absent	2001	11675338		II-4	X-linked macrothrombocytopenia and mild dyserythropoiesis without anemia	M	NA	Macrocytosis, nucleated RBCs	Macrothrombocytopenia	Recurrent epistaxis, easy bruising, petechiae, prolonged bleeding		Mild dyserythropoiesis					Elevated TPO levels
P010	c.622_623delinsTC	p.Gly208Ser	Missense	Hemizygous		Absent	2001	11675338		II-5	X-linked macrothrombocytopenia and mild dyserythropoiesis without anemia	M	NA	Macrocytosis, nucleated RBCs	Macrothrombocytopenia	Recurrent epistaxis, easy bruising, petechiae, prolonged bleeding		Mild dyserythropoiesis					Elevated TPO levels
P011	c.622_623delinsTC	p.Gly208Ser	Missense	Heterozygous		Absent	2001	11675338		II-7	Asymptomatic	F	NA
P012	c.622_623delinsTC	p.Gly208Ser	Missense	Hemizygous		Absent	2001	11675338		III-9	X-linked macrothrombocytopenia and mild dyserythropoiesis without anemia	M	Birth		Severe thrombocytopenia	Bleeding epistasis
P013	c.653A>G	p.Glu218Tyr	Missense	Hemizygous		Absent	2002	11809723		Boy #1	X-linked dyserythropoietic anemia and deep macrothrombocytopenia	M	<2 years										Died before age of 2 years
P014	c.653A>G	p.Glu218Tyr	Missense	Hemizygous		Absent	2002	11809723		Boy #2	X-linked dyserythropoietic anemia and deep macrothrombocytopenia	M	<2 years										Died before age of 2 years
P015	c.653A>G	p.Glu218Tyr	Missense	Hemizygous		Absent	2002	11809723		Boy #3	X-linked dyserythropoietic anemia and deep macrothrombocytopenia	M	<2 years										Died before age of 2 years
P016	c.653A>G	p.Glu218Tyr	Missense	Hemizygous		Absent	2002	11809723		Boy #4	X-linked dyserythropoietic anemia and deep macrothrombocytopenia	M	<2 years										Died before age of 2 years
P017	c.653A>G	p.Glu218Tyr	Missense	Hemizygous		Absent	2002	11809723		Boy #5	X-linked dyserythropoietic anemia and deep macrothrombocytopenia	M	<2 years										Died before age of 2 years
P018	c.653A>G	p.Glu218Tyr	Missense	Hemizygous		Absent	2002	11809723		Boy #6	X-linked dyserythropoietic anemia and deep macrothrombocytopenia	M	<2 years										Died before age of 2 years
P019	c.653A>G	p.Glu218Tyr	Missense	Hemizygous		Absent	2002	11809723		III-1	X-linked dyserythropoietic anemia and deep macrothrombocytopenia	M	1 year	Transfusion-dependent anemia	Macrothrombocytopenia			Dyserythropoiesis
P020	c.653A>G	p.Glu218Tyr	Missense	Heterozygous		Absent	2002	11809723		Mother of III-1	Asymptomatic	F	NA
P021	c.652G>T	p.Glu218Gly	Missense	Hemizygous		Absent	2001	11418466		V-3	X-linked thrombocytopenia without anemia	M	NA		Macrothrombocytopenia
P022	c.652G>T	p.Glu218Gly	Missense	Hemizygous		Absent	2001	11418466		V-7	X-linked thrombocytopenia without anemia	M	NA		Macrothrombocytopenia
P023	c.652G>T	p.Glu218Gly	Missense	Hemizygous		Absent	2001	11418466		V-8	X-linked thrombocytopenia without anemia	M	NA		Macrothrombocytopenia
P024	c.652G>T	p.Glu218Gly	Missense	Hemizygous		Absent	2001	11418466		V-17	X-linked thrombocytopenia without anemia	M	NA		Macrothrombocytopenia
P025	c.652G>T	p.Glu218Gly	Missense	Hemizygous		Absent	2001	11418466		V-20	X-linked thrombocytopenia without anemia	M	NA		Macrothrombocytopenia
P026	c.652G>T	p.Glu218Gly	Missense	Heterozygous		Absent	2001	11418466		V-16	Asymptomatic	F	NA
P027	c.652G>T	p.Glu218Gly	Missense	Heterozygous		Absent	2001	11418466		IV-4	Asymptomatic	F	NA
P028	c.652G>T	p.Glu218Gly	Missense	Heterozygous		Absent	2001	11418466		IV-1	Asymptomatic	F	NA
P029	c.652G>T	p.Glu218Gly	Missense	Heterozygous		Absent	2001	11418466		VI-5	Asymptomatic	F	NA
P030	c.622G>A	p.Gly208Arg	Missense	Hemizygous		Absent	2005	16103636		Subject II-3	X-linked severe dyserythropoietic anemia and thrombocytopenia	M	Birth	Transfusion-dependent anemia	Thrombocytopenia	Easy bruising, petechiae and mucosal hemorrhage (epistaxis), the frequency of mucosal and severe bleeding has diminished in adulthood		Increased number of binoculated erythroid precursors, atypical megakaryocytes				Cryptorchidism	The frequency of mucosal and severe bleeding has diminished in adulthood
P031	c.622G>A	p.Gly208Arg	Missense	Heterozygous		Absent	2005	16103636		Mother of subject II-3	Asymptomatic	F	NA		Mild thrombocytopenia
P032	c.220G>C	p.Val74Leu	Missense	Hemizygous	Y	Absent	2006	16783379		II-5	X-linked anemia without thrombocytopenia	M	40 years	Macrocytic anemia				Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages					Variant originally annotated as c.332G>C
P033	c.220G>C	p.Val74Leu	Missense	Hemizygous	Y	Absent	2006	16783379		II-7	X-linked anemia without thrombocytopenia	M	24 years	Macrocytic anemia			Neutropenia	Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages					Variant originally annotated as c.332G>C
P034	c.220G>C	p.Val74Leu	Missense	Hemizygous	Y	Absent	2006	16783379		II-8	X-linked anemia without thrombocytopenia	M	35 years	Macrocytic anemia				Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages					Variant originally annotated as c.332G>C
P035	c.220G>C	p.Val74Leu	Missense	Hemizygous	Y	Absent	2006	16783379		III-6	X-linked anemia without thrombocytopenia	M	12 years	Macrocytic anemia			Neutropenia	Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages					Variant originally annotated as c.332G>C
P036	c.220G>C	p.Val74Leu	Missense	Hemizygous	Y	Absent	2006	16783379		III-10	X-linked anemia without thrombocytopenia	M	20 months	Macrocytic anemia			Neutropenia	Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages					Variant originally annotated as c.332G>C
P037	c.220G>C	p.Val74Leu	Missense	Hemizygous	Y	Absent	2006	16783379		III-12	X-linked anemia without thrombocytopenia	M	2 months	Macrocytic anemia			Neutropenia	Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages					Variant originally annotated as c.332G>C
P038	c.220G>C	p.Val74Leu	Missense	Hemizygous	Y	Absent	2006	16783379		III-16	X-linked anemia without thrombocytopenia	M	4 years	Macrocytic anemia			Neutropenia	Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages					Variant originally annotated as c.332G>C
P039	c.220G>C	p.Val74Leu	Missense	Hemizygous	Y	Absent	2006	16783379		III-17	X-linked anemia without thrombocytopenia	M	17 years	Macrocytic anemia			Neutropenia	Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages					Variant originally annotated as c.332G>C
P040	c.220G>C	p.Val74Leu	Missense	Heterozygous	Y	Absent	2006	16783379		I-1	Asymptomatic	F	NA										Variant originally annotated as c.332G>C
P041	c.220G>C	p.Val74Leu	Missense	Heterozygous	Y	Absent	2006	16783379		II-9	Asymptomatic	F	NA										Variant originally annotated as c.332G>C
P042	c.220G>C	p.Val74Leu	Missense	Heterozygous	Y	Absent	2006	16783379		II-13	Asymptomatic	F	NA										Variant originally annotated as c.332G>C
P043	c.220G>C	p.Val74Leu	Missense	Heterozygous	Y	Absent	2006	16783379		III-11	Asymptomatic	F	NA										Variant originally annotated as c.332G>C
P044	c.646C>T	p.Arg216Trp	Missense	Hemizygous		Absent	2007	17148589		3-year-old boy	Congenital erythropoietic porphyria	M	3 years	Hypochromic, microcytic anemia, elevated HbF levels consistent with beta thalassemia	Thrombocytopenia			Hypercellular marrow, erythroid hyperplasia, dyserythropoiesis		Splenomegaly		Photosensitive bullous dermatosis, generalized hirsutism, short for age	HSCT corrected the porphyria and thalassemia
P045	c.646C>T	p.Arg216Trp	Missense	Heterozygous		Absent	2007	17148589		Mother of boy	Asymptomatic	F	Adult
P046	c.646C>T	p.Arg216Trp	Missense	Heterozygous		Absent	2007	17148589		Grandmother of boy	Chronic anemia	F	Adult	Chronic anemia	Thrombocytopenia
P047	c.647G>A	p.Arg216Gln	Missense	Hemizygous		0.00025%	2007	17209061		III-A	X-linked thrombocytopenia and gray platelet syndrome	M	Adult	Mild microcytosis, elevated RDW	Thrombocytopenia, increased MPV, large, abnormal, pale platelets
P048	c.647G>A	p.Arg216Gln	Missense	Hemizygous		0.00025%	2007	17209061		III-D	X-linked thrombocytopenia and gray platelet syndrome	M	Adult	Mild microcytosis, elevated RDW, beta thalassemia	Thrombocytopenia, increased MPV, large, abnormal, pale platelets
P049	c.647G>A	p.Arg216Gln	Missense	Hemizygous		0.00025%	2007	17209061		III-S	X-linked thrombocytopenia and gray platelet syndrome	M	Adult	Mild microcytosis, elevated RDW, beta thalassemia	Thrombocytopenia, increased MPV, large, abnormal, pale platelets
P050	c.647G>A	p.Arg216Gln	Missense	Heterozygous		0.00025%	2007	17209061		II-B	Asymptomatic	F	Adult		2 platelet populations (normal and large, abnormal, pale platelets)
P051	c.647G>A	p.Arg216Gln	Missense	Heterozygous		0.00025%	2007	17209061		II-H	Asymptomatic	F	Adult		2 platelet populations (normal and large, abnormal, pale platelets)
P052	c.647G>A	p.Arg216Gln	Missense	Heterozygous		0.00025%	2007	17209061		IV-F	Asymptomatic	F	NA		2 platelet populations (normal and large, abnormal, pale platelets)
P053	c.647G>A	p.Arg216Gln	Missense	Heterozygous		0.00025%	2007	17209061		IV-M	Asymptomatic	F	1 year		2 platelet populations (normal and large, abnormal, pale platelets)
P054	c.622G>A	p.Gly208Arg	Missense	Hemizygous		Absent	2008	17713552		Newborn boy	X-linked anemia with thrombocytopenia	M	Birth	Anemia	Thrombocytopenia		Leukocytosis	Dyserythropoiesis, dysmegakaryopoiesis		Hepatosplenomegaly		Extramedullary hematopoiesis
P055	c.622G>A	p.Gly208Arg	Missense	Heterozygous		Absent	2008	17713552		Mother	Asymptomatic	F	Adult		Mild thrombocytopenia
P056	c.622G>A	p.Gly208Arg	Missense	Heterozygous		Absent	2010	20922527	4790272, 3423766	II-6	Progressive thrombocytopenia	F	90 years		Thrombocytopenia								Miscarriage
P057	c.622G>A	p.Gly208Arg	Missense	Heterozygous		Absent	2010	20922527	4790272, 3423766	III-10	Asymptomatic	F	63 years										2 miscarriages
P058	c.622G>A	p.Gly208Arg	Missense	Hemizygous		Absent	2010	20922527	4790272, 3423766	IV-2	X-linked anemia with thrombocytopenia	M	4 months	Mild macrocytic, dyserythropoietic anemia	Severe thrombocytopenia	Extensive mucocutaneous bleeding after birth, epistaxis and gastrointestinal hemorrhage during infancy and childhood	Eosinopenia			Hepatosplenomegaly		Splenectomy, asymptomatic paraspinal tumor and tophaceous gout in adulthood, skeletal abnormalities
P059	c.622G>A	p.Gly208Arg	Missense	Heterozygous		Absent	2010	20922527	4790272, 3423766	III-4	Thrombocytopenia	F	44 years		Thrombocytopenia								3 miscarriages
P060	c.220G>C	p.Val74Leu	Missense	Hemizygous	Y	Absent	2012	22706301		II-1	Diamond-Blackfan anemia	M	3 years	Macrocytic anemia, low reticulocyte counts, elevated HbF levels	Mild thrombocytopenia
P061	c.220G>C	p.Val74Leu	Missense	Hemizygous	Y	Absent	2012	22706301		II-3	Diamond-Blackfan anemia	M	11 years	Macrocytic anemia, low reticulocyte counts, elevated HbF levels, elevated eADA levels
P062	c.220del	p.Val74SerfsX63	Frameshift	Hemizygous	Y	Absent	2012	22706301		DBA patient	Diamond-Blackfan anemia	M	NA	Anemia
P063	c.652G>A	p.Glu218Asp	Missense	Hemizygous		Absent	2014	23971719		III-4	X-linked thrombocytopenia	M	Childhood		Macrothrombocytopenia	Hematomas, ecchymosis, epistaxis, gingival bleeding		Hypermegakaryopoiesis with increased number of immature megakaryoblasts					Splenectomy
P064	c.652G>A	p.Glu218Asp	Missense	Hemizygous		Absent	2014	23971719		III-10	X-linked thrombocytopenia	M	Childhood		Macrothrombocytopenia	Hematomas, ecchymosis, epistaxis, gingival bleeding		Hypermegakaryopoiesis with increased number of immature megakaryoblasts					Splenectomy
P065	c.2T>G	p.?	Start loss	Hemizygous	Y	Absent	2014	24453067		Patient number 10	Diamond-Blackfan anemia	M	9 months	Hyporegenerative normochromic-macrocytic anemia, elevated eADA levels				Trilineage hypoplasia, dyserythropoiesis	Monosomy 7		MDS		HSCT
P066	c.871-24C>T	p.=	Intronic	Hemizygous		Absent	2019	30914438		1	Anemia with thrombocytopenia	M	Birth	Macrocytic anemia	Moderate thrombocytopenia	Lower gastrointestinal bleeding, epistaxis		Moderate dyserythropoiesis, small hypolobated megakaryocytes, occasional dysplastic myeloid cells					Hypospadia, Mycoplasma pneumonia
P067	c.871-24C>T	p.=	Intronic	Hemizygous		Absent	2019	30914438		2	Anemia with thrombocytopenia	M	Birth	Severe anemia, elevated eADA and HbF levels	Thrombocytopenia			Moderate dyserythropoiesis, small hypolobated megakaryocytes, occasional dysplastic myeloid cells					Hydrops fetalis, intrauterine transfusion
P068	c.788C>T	p.Thr263Met	Missense	Heterozygous		0.000083%	2021	33611093		III-4	PMF	F	41 years	Anemia	Thrombocytopenia		Leukocytosis, neutrophilia	Hypercellularity, dysmegakaryopoiesis, increased granulocyte/erythroblasts ratio, mild dyserythropoiesis, fibrosis	Monosomy 7
P069	c.788C>T	p.Thr263Met	Missense	Heterozygous		0.000083%	2021	33611093		III-5	PMF	F	42 years	Anemia	Thrombocytopenia		Leukocytosis, neutrophilia	Hypercellularity, dysmegakaryopoiesis, increased granulocyte/erythroblasts ratio, mild dyserythropoiesis, fibrosis
P070	c.788C>T	p.Thr263Met	Missense	Heterozygous		0.000083%	2021	33611093		II-2	Myeloid disorder	F	NA		Late-onset thrombocytopenia			Hypercellularity, dysmegakaryopoiesis, increased granulocyte/erythroblasts ratio, mild dyserythropoiesis
P071	c.788C>T	p.Thr263Met	Missense	Heterozygous		0.000083%	2021	33611093		IV-2	Myeloid disorder	F	NA
P072	c.788C>T	p.Thr263Met	Missense	Heterozygous		0.000083%	2021	33611093		IV-4	Myeloid disorder	F	NA
P073	c.-21A>G	p.?	5' UTR	Heterozygous	Y	Absent	2022	34758059		IV-2	AMKL	F	27 months	Macrocytosis, extreme lyonization					Monosomy 7, trisomy 21, t(11;21)(q23;q21)		MDS, AMKL		HSCT, somatic RUNX1 mutation
P074	c.-21A>G	p.?	5' UTR	Hemizygous	Y	Absent	2022	34758059		III-2	MDS with trilineage dysplasia	M	47 years	Anemia					Normal		MDS with trilineage dysplasia		HSCT, somatic ASXL1 mutation
P075	c.2T>G	p.?	Start loss	Heterozygous	Y	Absent	2022	34758059		III-2	AMKL	F	18 months					Hypoplasia, mild erythroid and megakaryocytic dysplasia	Trisomy 11, trisomy 21, trisomy 8, t(1;14)		AMKL
P076	c.2T>G	p.?	Start loss	Hemizygous	Y	Absent	2022	34758059		III-3	Congenital dyserythropoietic anemia	M	6 months
P077	c.2T>G	p.?	Start loss	Heterozygous	Y	Absent	2022	34758059		II-2	Asymptomatic	F	Adult	Macrocytic anemia
P078	c.2T>G	p.?	Start loss	Hemizygous	Y	Absent	2022	34758059		III-4	AMKL	M	21 months										HSCT
P079	c.94del	p.Val32PhefsX105	Frameshift	Heterozygous	Y	Absent	2022	35941211		III-4	Transient abnormal myelopoiesis with transient trisomy 21	F	27 days	Severe anemia	Thrombocytopenia	Petechiae, ecchymoses			Transient trisomy 21	Hepatosplenomegaly	TAM
P080	c.94del	p.Val32PhefsX105	Frameshift	Heterozygous	Y	Absent	2022	35941211		I-1	Anemia with thrombocytopenia	F	43 years	Moderate anemia	Thrombocytopenia
P081	c.94del	p.Val32PhefsX105	Frameshift	Heterozygous	Y	Absent	2022	35941211		II-2	Anemia with thrombocytopenia	F	23 years	Moderate anemia	Thrombocytopenia
P082	c.515T>C	p.Phe172Ser	Missense	Hemizygous		Absent	2023	37460606		II-1 (Twin 1)	GATA1 mutation-related cytopenia	M	3 years	Anemia	Thrombocytopenia	Intermittent nosebleeds after hand-foot-mouth disease		BM hyperplasia					HSCT
P083	c.515T>C	p.Phe172Ser	Missense	Hemizygous		Absent	2023	37460606		II-2 (Twin 2)	GATA1 mutation-related cytopenia	M	3 years	Anemia	Thrombocytopenia	Intermittent nosebleeds after hand-foot-mouth disease		BM hyperplasia					HSCT
P084	c.515T>C	p.Phe172Ser	Missense	Heterozygous		Absent	2023	37460606		Mother	Asymptomatic	F	NA
P085	c.515T>C	p.Phe172Ser	Missense	Heterozygous		Absent	2023	37460606		Grandmother	Asymptomatic	F	NA
P086	c.515T>C	p.Phe172Ser	Missense	Heterozygous		Absent	2023	37460606		Great-grandmother	Asymptomatic	F	NA
P087	c.865C>T	p.His289Tyr	Missense	Hemizygous		Absent	2022	36291092		BI.1	Prolonged bleeding with normal platelet counts	M	13 years		Normal platelet counts	Prolonged bleeding and impaired wound healing following an operation, epistaxis, atraumatic hematomas							Prolonged bleeding time
P088	c.865C>T	p.His289Tyr	Missense	Heterozygous		Absent	2022	36291092		BII.2	Asymptomatic	F	Adult		Normal platelet counts	Prolonged postnatal bleeding
P089	c.865C>T	p.His289Tyr	Missense	Hemizygous		Absent	2022	36291092		CI.1	Thrombocytopenia	M	14 years		Mild thrombocytopenia	Bleeding diathesis, epistaxis, ecchymosis, disproportionate bruising, hematomas with minor trauma, impaired wound healing
P090	c.865C>T	p.His289Tyr	Missense	Heterozygous		Absent	2022	36291092		CI.2	Asymptomatic	F	NA
P091	c.865C>T	p.His289Tyr	Missense	Heterozygous		Absent	2022	36291092		CII.2	Asymptomatic	F	Adult
P092	c.652G>A	p.Glu218Asp	Missense	Hemizygous		Absent	2022	36291092		AI.1	Severe chronic thrombocytopenia	M	4 years		Severe chronic thrombocytopenia	Frequent hematomas, epistaxis, gingival bleeding							Prolonged bleeding time
P093	c.652G>A	p.Glu218Asp	Missense	Hemizygous		Absent	2022	36291092		AI.2	Severe chronic thrombocytopenia	M	Childhood		Severe chronic thrombocytopenia	Atraumatic hematomas, epistaxis, gingival bleeding							Prolonged bleeding time
P094	c.652G>A	p.Glu218Asp	Missense	Heterozygous		Absent	2022	36291092		AII.1	Asymptomatic	F	Adult			Hypermenorrhoea, menorrhagia
P095	c.886A>C	p.Thr296Pro	Missense	Hemizygous		Absent	2022	36231035		Index Patient	Thrombocytopenia	M	36 years		Macrothrombocytes, thrombocytopenia	Bleeding
P096	c.886A>C	p.Thr296Pro	Missense	Heterozygous		Absent	2022	36231035		Daughter	Spherocytosis	F	4 years	Spherocytosis, hemolysis	Macrothrombocytes, normal platelet counts	Bleeding							Pathogenic SCL4A1 variant
P097	c.886A>C	p.Thr296Pro	Missense	Heterozygous		Absent	2022	36231035		Mother	Asymptomatic	F	59 years
P098	c.-19-679_221-48delinsTC		Start loss	Hemizygous		Absent	2023	36765901		B3	AML, ALL	M	29 years						Normal		AML, ALL		Somatic MPL mutation
P099	c.-21A>G	p.?	5' UTR	Hemizygous	Y	Absent	2015	26713410		4-year-old boy	Chronic anemia with thrombocytosis	M	4 years	Dyserythropoietic anemia, reticulocytopenia	Thrombocytosis, functional platelet defect		Megakaryocyte dysplasia
P100	c.-21A>G	p.?	5' UTR	Heterozygous	Y	Absent	2015	26713410		Mother of 4-year-old boy	Asymptomatic	F	Adult

ALL: acute lymphoblastic leukemia, AMKL: acute megakaryocytic leukemia, AML: acute myeloid leukemia, BM: bone marrow, eADA; erythrocyte adenosine deaminase, HbA2: hemoglobin A2, HbF: fetal hemoglobin, HSCT: hematopoietic stem cell transplantation, MDS: myelodysplastic syndrome, MPV: mean platelet volume, PMF: primary myelofibrosis, RBC: red blood cell, RDW: red blood cell distribution width, TAM: transient abnormal myelopoiesis, WBC: white blood cell