“…(Asp702Asn) reported five times, and c.2249G>A/p. (Arg750Glu) reported four times [Jacobsen et al., ; Ruiz‐Perez et al., ; Sakuntabhai et al., , ; Mac Manus et al., ; Ringpfeil et al., ; Chao et al., ; Ikeda et al., ; Onozuka et al., ; Racz et al., ; Hamada et al., ; Bchetnia et al., ; Godic et al., ; Fu et al., ; Pedace et al., ; Green et al., ; Li et al., ; Shi et al., ; Dodiuk‐Gad et al., ]. At amino acid positions 131 and 495, other base substitutions c.392G>T/p.…”