TGM1 mutations reported in this investigation and previous studies. (A) The 44 germline TGM1 mutations identified. Asterisks denote the 22 novel mutations identified; mutations identified in both this and previous studies are not marked with asterisks. (B) The 50 previously reported germline TGM1 mutations that were not identified in the present study. Blue, missense; green, nonsense; red, frameshifts, orange, putative splice site.