Table 2.

Rare and damaging mutations in red cell disorder genes

Gene	Mutation	Proband	Father	Mother	Predicted effect	ExAC AF (%)
EPB41	Chr1:29344900 CGAATCAG>C c.444_450delGAATCAG p.Asn149Profs	Two copies	One copy	One copy	Frameshift	0
ANK1	Chr8:41554011 C>T c.2830G>A p.Ala944Thr	One copy	One copy	Zero copies	Missensea; A944T	0.08

ExAC, Exome Aggregation Consortium; AF, allele frequency.

^aPredicted probably/possibly deleterious by PolyPhen HDIV (P), LRT (D), MutationTaster (D), and fathmm-MKL (D) and predicted benign/neutral by SIFT (T), PolyPhen HVAR (B), Mutation Assessor (N), fathmm (T), PROVEAN (N), CADD (3.6), DANN (0.49), MetaSVN (T), and MetaLR (T).