. 2019 May 31;4(9):1312–1322. doi: 10.1016/j.ekir.2019.05.1157

Table 1.

NUP93 mutations in this case

Mutation	AA change	PolyPhen-2	Mutation taster	SIFT	1000G	gnomAD	EVS	HGVD	iJGVD
c.1573C>T	p.Arg525Trp	0.999^a	0.999^a	0.02^a	0^b	0.000004074^b	0^b	0^b	0^b
c.1886A>G	p.Tyr629Cys	1.0^a	0.999^a	0.06^a	0^b	0.000008133^b	0^b	0^b	0^b

AA, amino acid; EVS, NHLBI Exome Sequencing Project Exome Variant Server; gnomAD, The Gnome Aggregation Database; HGVD, Human Genetic Variation Database (the public exome database of the Japanese population); iJGVD, integrative Japanese Genome Variation Database³⁴; SIFT, Sorting Intolerant From Tolerant; 1000G, 1000 Genomes Project data.

Mutations are annotated according to NUP93 cDNA (GeneBank: NM_014669.4).

Score of the variant in each web-based program.

Frequency of the variant in each database.