Table 2.
Frameshift Variants Called by Whole Exome Sequencing.
| Gene | Location | Position^ | Wild-Type | Variant | Protein Δ | Het◊ (n) | Hom□; (n) |
| ABCB4 | 7q21.12 | 87069011 | TCACTTTCTGTGTC | T | p.D564fs | 1 | 0 |
| ADAMTS15 | 11q24.3 | 130319306 | G | GGCGCA | p.A146fs | 1 | 0 |
| BIRC6 | 2p22.3 | 32726827 | TTGGATGCCATATCAGTTGGGGA | T | p.L3027fs | 1 | 0 |
| CAPN2 | 1q41 | 223938640 | TGG | T | p.W288fs | 1 | 0 |
| EPG5 | 18q12.3-q21.1 | 43493697 | C | CAGAGTTTATCACCAATTCCCCTTCAATA | p.A1264fs | 1 | 0 |
| ERICH2 | 2q31.1 | 171638777 | CA | C | p.A249fs | 1 | 0 |
| FASTKD1 | 2q31.1 | 170428515 | CT | C | p.L8fs | 1 | 0 |
| GAL3ST4 | 7q22.1 | 99758165 | A | AC | p.S283fs | 1 | 0 |
| HIST1H2AK | 6p22.1 | 27805753 | TCA | T | p.T121fs | 1 | 0 |
| IGSF10 | 3q25.1 | 151166309 | AC | A | p.V487fs | 1 | 0 |
| KCNJ12 | 17p11.2 | 21319185 | TG | T | p.G178fs | 1 | 0 |
| KIAA1919 | 6p22.3 | 111587872 | TC | T | p.P370fs | 1 | 0 |
| KRT19 | 17q21.2 | 39680651 | C | CAGCA | p.E268fs | 1 | 0 |
| METTL17 | 14q11.2 | 21458654 | G | GC | p.V87fs | 1 | 0 |
| MYOF | 10q23.33 | 95132692 | GA | G | p.F817fs | 1 | 0 |
| NPIPB15 | 16q23.1 | 74411878 | C | CT | p.L3fs | 1 | 0 |
| NUMB | 14q24.2-q24.3 | 73743337 | A | AGGGGAGGGATTAGTAC | p.T588fs | 1 | 0 |
| OR2T1 | 1q44 | 248604696 | G | GT | p.Y64fs | 1 | 0 |
| PPP2R3B | Xp22.33 | 322293 | C | CG | p.P119fs | 1 | 0 |
| PRAMEF13 | 1p36.21 | 13448183 | G | GT | p.A431fs | 0 | 1 |
| RNF213 | 17q25.3 | 78269608 | T | TC | p.P669fs | 1 | 0 |
| SLC44A4 | 6p21.33 | 31833803 | TAGATTTGC | T | p.L442fs | 1 | 0 |
| SPO11 | 20q13.31 | 55917787 | TA | T | p.L321fs | 1 | 0 |
| TADA1 | 1q24.1 | 166838708 | C | CGCGTGAGAATGGCCAGGAGGAAATCATTGTGAGA | p.R69fs | 1 | 0 |
| TBP | 6q27 | 170871045 | A | AGC | p.Q74fs | 1 | 0 |
| TTF2 | 1p13.1 | 117632763 | GTA | G | p.S810fs | 1 | 0 |
| UHRF1BP1 | 6p21.31 | 34839648 | GC | G | p.P1382fs | 1 | 0 |
| ZNF806 | 2q21.2 | 7585345 | C | CAG | p.K51fs | 1 | 0 |
^Position based on GRCh37.p13 Primary Assembly ◊Heterozygous □Homozygous.