Fig. 2

Sanger sequencing and protein modeling. (A) Sequencing results of the CNKSR2 variant of Proband I and Proband I father using Sanger sequencing. Red arrow points the variant site. (B) Sequencing results of the CNKSR2 variant of Proband II, Proband II mother and Proband II father using Sanger sequencing. Red arrow points the variant site. (C) Three-dimension model of CNKSR2 with wild type or variants