Table 4.
Likely deleterious variants in SYP and ZNF711
Gene | Family number |
lod | Mutation class | Mutation |
---|---|---|---|---|
SYP | 346 | 0.5 | Truncatinga | 274_275insA, T92fs*45 |
SYP | MRFU-12 | 1.2 | Truncating | 177_178CA>GT, N59_K604K* |
SYP | MRFU-470 | ND | Truncating | 829_832delGACT, D277fs*59 |
SYP | MRFU-668 | 1.8 | Nonsynonymous | 649G>C, G217R |
ZNF711 | 208 | 1.3 | Truncatinga | 2157_2158delTG, 719fs*1 |
ZNF711 | MRFU-582 | 2.1 | Truncating | 1573C>T, R525* |
ND, not determined.
Found in original screen.