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Table 2 Filtered variations

From: Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report

Chromosome Position Region Gene Function dbSNP132 1000G_2010Nov_ALL PolyPhen2 SIFT ref_allele alter_allele Proband Father Mother
chr1 223,175,758 exonic DISP1 nonsynonymous SNV - - 1 0 G A × ×
chr1 240,371,141 exonic FMN2 nonsynonymous SNV - - 0.76515 0 C T × ×
chr1 247,615,260 exonic OR2B11 Deletion and frameshift > premature terminal codon - -    A - × ×
chr2 189,860,860 exonic COL3A1 nonsynonymous SNV - - 0.784653 0 G A × ×
chr2 190,718,672 exonic PMS1 nonsynonymous SNV - - 0.996 0 G A × ×
chr6 30,861,156 exonic DDR1 nonsynonymous SNV - - 0.16 0.03 G A × ×
chr6 105,824,051 exonic PREP nonsynonymous SNV - - 0.241 0 C T × ×
chr8 113,277,807 exonic CSMD3 nonsynonymous SNV - - 0.985 0 C T × ×
chr11 124,267,132 exonic OR8B3 nonsynonymous SNV - - 0.275 0.02 A G × ×
chr12 49,580,541 exonic TUBA1A nonsynonymous SNV - - 0.777136 0 C G × ×
chr16 75,682,281 exonic TERF2IP nonsynonymous SNV - - 0.214 0.02 G A × ×
chr17 74,288,545 exonic QRICH2 nonsynonymous SNV - - 0.995 0.01 C G × ×
chr19 1,055,329 exonic ABCA7 nonsynonymous SNV - - 0.996 0 A G × ×
chr21 10,942,950 exonic TPTE nonsynonymous SNV - - 0.999 0.01 T C × ×
chr22 25,011,077 exonic GGT1 nonsynonymous SNV - - 0.318 0.01 C T × ×
chrX 153,008,788 exonic ABCD1 nonsynonymous SNV - - 1 0 G A × ×
  1. ref, reference; alter, alteration; exonic, exonic region; SNV, single nucleotide variation; , heterozygous; ×, no SNV.