Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: a case report

BMC Pulmonary Medicine

Table 2 Genetic information of the patient from whole exosome sequencing

Gene/transcript	Exosome number	variant^a	Mutation type	Pathogenicity classification	Genetic mode	Disease/phenotype	RS number
EIF2AK4 NM_001013703.3	38	c4833_4836dup p.Q1613Kfs*10	Het	Likely pathogenic	AR	PVOD	Rs768394773

AR autosomal recessive, PVOD pulmonary veno-occlusive disease
^aVariant name followed Human Genome Variation Society nomenclature (http://varnomen.hgvs.org/)

ISSN: 1471-2466