Table 1.
Absolute numbers of LOF mutations in the known CCM and FAM222B genes as listed in the ExAC browser
| Gene | Nonsense | Frameshift | Splice | Total | HGMD | Overlapping | EVS |
|---|---|---|---|---|---|---|---|
| CCM1 | 6 | 7 (6) | 3 | 15 (14) | 6 | 2 (1× fs, 1× nonsense) | 2 |
| CCM2 | 1 | 0 | 2 | 3 | 1 | 2 (splice site) | 0 |
| CCM3 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| FAM222B | 5 (2) | 8 (5) | 0 | 13 (7) | – | – | 0 |
The number of unique LOF mutations is given in brackets. The column HGMD indicates the number of mutations listed as disease causing in the HGMD database, another mutation at the same position is classified as overlapping (source: HGMD® Professional database 2015.4). The column EVS specifies the number of LOF mutations included in the Exome Variant Database (http://evs.gs.washington.edu/EVS/). None of them are listed in the HGMD database. fs = Frameshift.