Table 2.

Variant levels in fibroblasts from the reported individual

Sample	VAF (NGSa)	VAF (RFLPb)
FB1	0.113	0.02
FB2	NA	0.46
FB3	NA	0.05
FB4	0.006	0.004
FB5	NA	0.31

(VAF) Variant allele fraction, (NGS) next-generation sequencing, (RFLP) restriction fragment length polymorphism.

^aFraction of alternate reads at Chr 14:105,246,550–105,246,551 identified by next-generation sequencing.

^bVariant allele fraction detected by custom restriction fragment length polymorphism assay for the c.50A > G substitution.