TableĀ 2

Filtering procedures and statistics for the SNVs and InDels called from the exome sequencing data

Sample IDNS/SS/InDelLowFreq (MAF<0.01)Dominant (Heterozygous)Absent in our 50 exomeSeq dataSegregating in exomeSeq subjectsIn linkage regionsSegregating in all family members
M163468692/77/313630/26/291622/21/202437/8/4672/2/63/1/01/0/0 (SLC39A5:c.C141G:p.Y47X)
  • InDel, insertions and deletions; LowFreq represents low allele frequency (MAF<0.01) both in 1000g2012Aril and ESP6500NS, non-synonymous variants; SNV, single nucleotide variant; SS, splicing variants.