Table 1. Germline mutations and somatic... | American Society of Hematology

Table 1.

Germline mutations and somatic driver mutations identified in each individual in ANKRD26- and ETV6-mutated hereditary thrombocytopenia/hereditary hematopoietic malignancy phenocopy cohort

Germline gene of interest	Variants	Individual	Family	Phenotype	Age(s) at sample collection (years)
ETV6	p.R369Q NM_001987.4	III_3	Family 1	Thrombocytopenia	59, 62, 63
ETV6	p.R369Q NM_001987.4	IV_4	Family 1	Thrombocytopenia	36, 38
ETV6	p.R369Q NM_001987.4	IV_5	Family 1	Thrombocytopenia	33
ETV6	p.R369Q NM_001987.4	III_5	Family 1	Thrombocytopenia	62
ANKRD26	5′ UTR c.-118C>T NM_014915.2	III_2	Family 2	Thrombocytopenia	56, 60
ANKRD26	5′ UTR c.-118C>T NM_014915.2	III_4	Family 2	Thrombocytopenia	55
ANKRD26	5′ UTR c.-118C>T NM_014915.2	IV_1	Family 2	Thrombocytopenia	25
ANKRD26	5′ UTR c.-119C>G NM_014915.2	IV_3	Family 3	Thrombocytopenia	43, 44
ANKRD26	5′ UTR c.-119C>G NM_014915.2	V_1	Family 3	Thrombocytopenia	13
ANKRD26	5′ UTR c.-128G>A NM_014915.2	III_14	Family 4	Thrombocytopenia	22
ANKRD26	5′ UTR c.-128G>A NM_014915.2	II_12	Family 4	AML (23% blasts)	48
ANKRD26	5′ UTR c.-128G>A NM_014915.2	III_16	Family 4	Thrombocytopenia	8

Germline gene of interest	Variants	Individual	Family	Phenotype	Age(s) at sample collection (years)
ETV6	p.R369Q NM_001987.4	III_3	Family 1	Thrombocytopenia	59, 62, 63
ETV6	p.R369Q NM_001987.4	IV_4	Family 1	Thrombocytopenia	36, 38
ETV6	p.R369Q NM_001987.4	IV_5	Family 1	Thrombocytopenia	33
ETV6	p.R369Q NM_001987.4	III_5	Family 1	Thrombocytopenia	62
ANKRD26	5′ UTR c.-118C>T NM_014915.2	III_2	Family 2	Thrombocytopenia	56, 60
ANKRD26	5′ UTR c.-118C>T NM_014915.2	III_4	Family 2	Thrombocytopenia	55
ANKRD26	5′ UTR c.-118C>T NM_014915.2	IV_1	Family 2	Thrombocytopenia	25
ANKRD26	5′ UTR c.-119C>G NM_014915.2	IV_3	Family 3	Thrombocytopenia	43, 44
ANKRD26	5′ UTR c.-119C>G NM_014915.2	V_1	Family 3	Thrombocytopenia	13
ANKRD26	5′ UTR c.-128G>A NM_014915.2	III_14	Family 4	Thrombocytopenia	22
ANKRD26	5′ UTR c.-128G>A NM_014915.2	II_12	Family 4	AML (23% blasts)	48
ANKRD26	5′ UTR c.-128G>A NM_014915.2	III_16	Family 4	Thrombocytopenia	8

Family numbers and individual IDs reference pedigrees shown in supplemental Figure 2

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