Table 1.

Genetic variants of the EPOR gene causing truncation of EPOR protein in familial erythrocytosis

dbSNP HGVS name	Var_pub_as	Location of the variant in the EPOR gene	Geographic origin/ethnic origin	Number of patients reported	Reference	Remarks
c.1252_1255del p.Gly418Profs*34	g.5938_5941del	Exon 8	Denmark	One family, four affected members	Petersen et al26 PMID: 15142125	58 aa truncation confirmed in three members
c.1273G>T p.Glu425*	G5959T	Exon 8	na	One family, four affected members	Kralovics and Prchal1 PMID: 11559951	84 aa truncation
c.1362C>G p.Tyr454*	/	Exon 8	France	One patient (30‐y‐old female)	Chauveau et al27 PMID: 26010769	55 aa truncation, shortest known truncation

EPOR, erythropoietin receptor; Var_pub_as, variant as reported originally; listed only when different from Variant/DNA.