SPTA1 and amelogenesis imperfecta type 1G: The first 10 mutated genes in the ERS low-risk subgroup were SPOP, TP53, TTN, FOXA1, MUC16, SPTA1, SYNE1, CACNA1E, CSMD3, and KMT2D (Additional file 1: Fig. S3A); mutated genes in the ERS high-risk subgroup were TP53, TTN, SPOP, FOXA1, KMT2D, LRP1B, KMT2C, SYNE1, MUC16, and RYR1 (Additional file 1: Fig. S3B).