Table 1.

Overview of the identified ARMC4 mutations.

	NK025 II-1
Positions	Chr10:28228828	Chr10:28233215
cDNA mutation	c.C2095T	c.C1679T
Protein alteration	p. Q699X	p. A560V
Mutation type	Stopgain	Missense variant
Allele frequency
1000G	NA	NA
ExAC03	NA	0.000025
GnomAD exome	NA	0.00003981
Function prediction
SIFT	NA	D
PolyPhen-2	NA	D
MutationTaster	D	D
CADD	52	24.1

RefSeq accession number of ARMC4 is NM_018076. NA, not available.