. 2020 Jul 6;20:186. doi: 10.1186/s12890-020-01186-8

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

Gene/transcript

Exosome number

variant^a

Mutation type

Pathogenicity classification

Genetic mode

Disease/phenotype

RS number

EIF2AK4

c4833_4836dup

p.Q1613Kfs*10

Het

Likely pathogenic

PVOD

Rs768394773

AR autosomal recessive, PVOD pulmonary veno-occlusive disease

^aVariant name followed Human Genome Variation Society nomenclature (http://varnomen.hgvs.org/)