Figure 1. Sequence chromatogram of the seven novel mutations. A: c.2059G>A (p.E687K). B: c.2137C>A (p.P713T). C: c.3466G>A(p.A1156T). D: c.3749C>T (p.P1250L). E: c.4300G>A(p.D1434N). F: c.4684G>A (p.E1562K). G: c.7262G>A(p.R2421H).