Best place for Table 2
The 863 unique RTT causing variations are distributed over 4,573 database entries. Also here, only 12 variations are found in more than 1% of all database entries (Table 3) and these 12 make in total 60% of the database entries. The most abundantly found MECP2 variations were found in seven of nine databases (Table 3). The majority (eight) of these are C>T transitions at CpG hotspots (Wan et al., 1999). These eight MECP2 hotspot variations contribute to 49.7% of all MECP2 variation entries. The most abundant MECP2variation in this dataset is NC_000023.11:g.g.154031355G>A (NM_004992.3:c.473C>T, NP_004983.1:p.(Thr158Met)) with 463 counts (Table 3). In total 54% of RTT causing variations are a deletion, 9% insertion, 37% substitution, and 9% duplication. Many of the database entries contain multiple variations (e.g., a deletion and insertion) on the same or different chromosomes. 452 RTT causing variations have only one single database entry and of these 269 are a deletion, 43 insertion, and/or 153 substitution.