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 | △ | × | × |