Table 1 Summary of candidate variants

From: Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss

Gene Chr Postion dbSNP137 Mutation Amino-acid change Inheritance In-house MutationTaster
PCDH15 10 55955553 rs199786639 c.1210A>C Ser404Arg Maternal 0/408 Disease causing
   56138680   c.195G>A Met65Ile Paternal 0/408 Disease causing
PNKP 19 50365857   c.874G>A Gly292Arg Maternal 2/408 Disease causing
   50369691   c.163G>T Ala55Ser Paternal 0/408 Disease causing
ALG13 X 110954948   c.880C>T Pro294Ser Maternal 0/0: 203 M/205 F Disease causing
  1. Abbreviations: F, females; M, males.