Table 2. Details of the SNVs identified in TUK1 and TUK2 samples.
Functional Effects | TUK1 | TUK2 |
Mb sequenced (number) | 32 | 44 |
number of exons (k) | 180 | 300 |
nonsynonymous coding | 60,353 | 82,293 |
partial codon | 4 | 3 |
splice site | 8,155 | 11,060 |
stop gained | 1,100 | 1,728 |
stop lost | 76 | 124 |
synonymous coding | 44,878 | 56,993 |
The number of SNVs detected is shown according to their functional consequences, for the TUK1 and TUK2 samples.