L170fs*268, at B3GALT6. Because B3GALT6 is a known gene for the connective tissue disorder (EDS), we reanalyzed all B3GALT6 rare variants with AF less than 0.001 (including missense variants) and identified another B3GALT6 missense variant, i.e., c.883C>T:p.R295C on three family members (II:3, III:1, and III:2). The gene discussed is B3GALT6; the disease is connective tissue disorder.