Table 6. Number of coding, rare and LoF variants across 24 candidate genes selected from exome sequencing of 75 individuals from multiply affected families.
| Gene | Number of variants in coding regions | Number of rare (MAF* <0.5%) in coding regions | Number of rare (MAF* <0.5%) and LoF |
|---|---|---|---|
| ACOT8 | 29 | 27 | 5 |
| ARHGAP25 | 40 | 34 | 2 |
| C1QBP | 9 | 8 | 2 |
| CD180 | 48 | 43 | 4 |
| CD1C | 28 | 26 | 3 |
| CERK | 54 | 48 | 4 |
| CRLF3 | 23 | 20 | 2 |
| EBI3 | 28 | 25 | 2 |
| EPAS1 | 59 | 55 | 3 |
| GRM4 | 69 | 65 | 0 |
| HAS1 | 61 | 56 | 1 |
| IFNW1 | 17 | 16 | 0 |
| IKZF3 | 29 | 27 | 1 |
| IL12RB1 | 60 | 52 | 4 |
| KCNJ16 | 36 | 35 | 3 |
| MALT1 | 21 | 20 | 3 |
| MAP4K2 | 34 | 33 | 2 |
| NLRC4 | 64 | 61 | 3 |
| RAF1 | 27 | 26 | 2 |
| TNFRSF10A | 46 | 42 | 5 |
| TNFRSF13B | 42 | 34 | 4 |
| TNFRSF21 | 39 | 38 | 0 |
| TRAF4 | 30 | 28 | 0 |
| TULP1 | 46 | 42 | 5 |
* MAF as defined in controls.