Table 2.
Genes with at least two individuals carrying a rare variant; Variants were prioritized based on functional prediction (excluding variants with CADD score <20, and those considered tolerated or benign by SIFT or PolyPhen_humDiv, respectively).
| Genes with Rare Variants in Two AFF Cases | Genes with Rare Variants in More Than two AFF Cases | ||||
|---|---|---|---|---|---|
| Two Different Variants | One Variant | ||||
| Gene Name | Gene Name | Gene Name | Gene Name | Gene Name | Number of Variants and (Carriers) |
| AASS | DNAH10 | PSD3 | ACADL | C8orf46 | 1 (3) |
| ABCA10 | DNAH12 | PTH1R | C1orf87 | CHRNG | 3 (3) |
| ABCA4 | DNAH6 | PYHIN1 | CD1A | DAAM2 | 3 (3, one homoz) |
| ABL2 | DYSF | R3HDML | CITED4 | DNAH14 | 4 (4) |
| ADAMTS12 | EFHB | RET | GBA | DNAH2 | 3 (3) |
| ANAPC11 | EP400 | RMDN1 | IQSEC3 | DNAH9 | 3 (3) |
| ANK3 | ERCC5 | RNF157 | NSMAF | FSIP2 | 3 (3) |
| ANKRD40 | FAT4 | RNF34 | PPP2R1B | HLA-DRB1 | 2 (4) |
| ARHGEF18 | FBLN7 | RTEL1 | SERPINB2 | HRASLS | 1 (3) |
| ARID1B | FLJ00418 | SCN9A | SPTBN1 | IGFLR1 | 2 (2, one homoz) |
| ASH1L | GBP3 | 5-Sep | SYDE1 | KRT10 | 1 (5) |
| ATAD2 | GPX4 | SH3BP2 | TNFRSF25 | LAMA1 | 3 (3) |
| ATP10B | HK3 | SHROOM4 | TRAPPC2L | LRP5 | 4 (3) |
| BIN1 | HPS6 | SIRT5 | TRIM32 | MRPS12 | 1 (3) |
| C10orf54 | IGFN1 | SLC26A9 | NEB | 4 (4) | |
| C12orf42 | IGSF10 | SLC2A7 | OBSCN | 5 (5) | |
| C14orf159 | IGSF22 | SLC34A3 | TCOF1 | 3 (4) | |
| C17orf107 | KLHL33 | SLC52A2 | TNXB | 3 (3) | |
| C6 | LLGL1 | SPTBN5 | TTN | 8 (8) | |
| C9orf84 | MEX3D | SRCAP | UTRN | 3 (3) | |
| CA9 | MKS1 | TAF15 | VEGFB | 1 (3) | |
| CDC42BPG | MMP20 | TENM4 | ZC3H3 | 3 (3) | |
| CERKL | MSLNL | TJP3 | |||
| CHAMP1 | NOD2 | TMEM143 | |||
| CLCN2 | NUP153 | TNRC6B | |||
| CRYBA1 | OPLAH | TOPORS | |||
| CTSE | PACSIN2 | TSFM | |||
| CUL7 | PARD6B | TTC14 | |||
| CYYR1 | PCDHAC1 | ZNF34 | |||
| DAB2IP | PDE4DIP | ZNF646 | |||
| DAW1 | PISD | ZNF729 | |||
| DHX34 | PLA2G4D | ZSCAN32 | |||