Additionally, in this domain, we also observed substitutions with the highest VAF (e.g., p.Y373C, p.G380R, and p.E447K); ∼50% higher in magnitude than the median of the other variants (approximately 4 × 10−5) measured in FGFR3. Two of those variants (p.Y373C and p.G380R) were found only in the older donor pools and have been reported to be associated with congenital disorders such as thanatophoric dysplasia type I (TDI) or ACH. Here, FGFR3 is linked to thanatophoric dysplasia type 1.