Table 2. Validated functionally damaging SNV.
Chr | Position (NCBI36) | Allele change | Amino acid change | Gene |
2 | 210491597 | G > A | G1704R | UNC80 |
6 | 33025040 | T > G | K256T | HLA-DMA |
10 | 5129651 | A > T | E93V | AKR1C3 |
11 | 57183888 | C > G | P122A | CLP1 |
12 | 79591146 | G > A | D125N | PTPRQ |
16 | 69268358 | C > T | D253N | MTSS1L |
20 | 49059955 | C > T | V110I | KCNG1 |