Table 2.
Details of segregating variants in the index family
| Variant position (hg19) | Variant allele frequency in databases | ||||||||
|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||
| Chromosome | Start | End | Gene name | Ref allele | Alt allele | Variation type | 1000 Genome Project Phase 3 | ESP6500 | ExAC |
| chr1 | 55680636 | 55680636 | USP24 | C | G | Non synonymous SNV | 0 | 0 | 0 |
| chr1 | 150776517 | 150776517 | CTSK | C | T | Non synonymous SNV | 0 | 0 | 0.00003 |
| chr6 | 132966598 | 132966598 | TAAR1 | C | A | Non synonymous SNV | 0 | 0 | 0.00004 |
| chr8 | 37699215 | 37699215 | GPR124 | C | A | Non synonymous SNV | 0 | 0 | 0 |
| chr17 | 74720007 | 74720007 | JMJD6 | T | A | Non synonymous SNV | 0 | 0 | 0.000008 |
| chr17 | 79995361 | 79995361 | DCXR | G | A | Non synonymous SNV | 0 | 0 | 0.00009 |
| chr18 | 77806147 | 77806147 | RBFA | A | G | Non synonymous SNV | 0 | 0 | 0 |
| chr20 | 13756672 | 13756674 | ESF1 | ATC | – | Non frameshift deletion | 0 | 0 | 0.00003 |
| chr22 | 29876916 | 29876916 | NEFH | C | A | Non synonymous SNV | 0 | 0 | 0 |
SNV: single nucleotide variation; ESP6500 - NHLBI Exome Sequencing Project (Version: v.0.0.30); ExAC - Exome Aggregation Consortium (Version 0.3).