Table 2.
Number of variants categorized as 1–3 by RUNES. category 1, previously described as disease causing; category 2, of the type likely to disrupt protein function, category 3, variant of unknown significance; AF, allele frequency in CMH internal database of greater than 1400 samples.
| Cat. 1 total |
Cat. 1 AF <1% |
Cat. 2 total |
Cat. 2 AF <1% |
Cat. 3 total |
Cat. 3 AF <1% |
|
|---|---|---|---|---|---|---|
| CMH000254 | 27 | 9 | 335 | 28 | 3113 | 393 |
| CMH000255 | 31 | 14 | 346 | 28 | 3039 | 402 |
| CMH000256 | 25 | 6 | 348 | 26 | 3170 | 412 |
| CMH000257 | 33 | 14 | 346 | 28 | 3053 | 400 |
| CMH000036 | 33 | 16 | 298 | 47 | 2911 | 727 |