Table 3.
Splice Site Variants Called by Whole Exome Sequencing.
| Gene | Location | Position^ | Wild-Type | Variant | Protein Δ | Het◊ (n) | Hom□ (n) |
|---|---|---|---|---|---|---|---|
| BACH2 | 6q15 | 90660300 | G | A | p.R509C | 1 | 0 |
| CYP2D6 | 22q13.2 | 42522855 | G | T | p.A438E | 1 | 0 |
| DUS1L | 17q25.3 | 80022002 | C | T | p.G116S | 1 | 0 |
| EPB41L1 | 20q11.23 | 34807685 | C | G | p.I606M | 1 | 0 |
| FBXO11 | 2p16.3 | 48035327 | G | C | p.P821R | 1 | 0 |
| KDM6B | 17p13.1 | 7756696 | C | G | p.L1636V | 1 | 0 |
| MRTO4 | 1p36.13 | 19584973 | G | A | p.V166M | 1 | 0 |
| OR2H1 | 6p22.1 | 29429779 | A | G | p.Q78R | 1 | 0 |
| PIBF1 | 13q22.1 | 73409504 | C | A | p.N407K | 1 | 0 |
| PRRC2B | 9q34.13 | 134308006 | A | T | p.I40F | 1 | 0 |
| RELN | 7q22.1 | 103202398 | G | A | p.S1738F | 1 | 0 |
| TBK1 | 12q14.2 | 64891430 | A | T | p.L654F | 1 | 0 |
| TMPRSS11E | 4q13.2 | 69344567 | G | T | p.G323V | 1 | 0 |
^Position based on GRCh37.p13 Primary Assembly ◊Heterozygous □Homozygous.