Table 1.

MCM10 patient variants associated with NKD and fetal RCM.

Variant	Mutation Type	Location	Functional Class	gnomAD frequency	Pathology
c.236delG, p.G79EfsTer6	Frameshift	Exon 3	LOF	n.r.	Restrictive cardiomyopathy with lymphoreticular hypoplasia
c.764 + 5 G > A, r.593_763del, p.D198GfsTer10	Splice Donor	Intron 6	hypomorph	1/232,426
c.1276 C > T, p.R426C	Missense	Exon 10	hypomorph	7/282,582	NK cell deficiency
c.1744C > T, p.R582X	Nonsense	Exon 13	LOF	n.r.

Variants annotated in reference to MCM10 transcript NM_018518.5.

Frequencies based on gnomADv.2.1.1¹³. LOF = loss of function, n.r. = not reported.