Table 1.
Predicted Pathogenicity and Allele Frequencies of HNRNPH2 Variants
| Nucleic Acid Variant | cDNA Change | Amino Acid Change | Position | SIFT | PolyPhen (HDIV Score) | Mutation Taster | CADD Phred | ExAC Allele Frequency |
|---|---|---|---|---|---|---|---|---|
| CGG>TGG | c.616C>T | p.Arg206Trp | chrX: 100,667,592 | damaging (.97) | tolerated (0.025) | disease causing | 20.6 | 0 |
| CGG>CAG | c.617G>A | p.Arg206Gln | chrX: 100,667,593 | damaging (.99) | tolerated (0.025) | disease causing | 22.1 | 0 |
| CCC>CTC | c.626C>T | p.Pro209Leu | chrX: 100,667,602 | damaging (1) | damaging (0.938) | disease causing | 22.3 | 0 |