Table 5.
Number of genes harboring compound heterozygotes mutations in the patients included in this study.
| Sample | Genes 1% | Genes 0.1% | Genes 1% filtereda | Genes 0.1% filtereda |
|---|---|---|---|---|
| L283 | 53 | 21 | FAM186B, MYH11, SLC25A5, SDK1 | FAM186B |
| L287 | 26 | 11 | CBS, TRIB3 | 0 |
| L288 | 29 | 18 | 0 | 0 |
| L289 | 39 | 19 | FHL3, SLC25A5, FMN2 | 0 |
| L290 | 31 | 15 | 0 | 0 |
| L291 | 27 | 18 | CAMPSAP3, VPS13C | CAMPSAP3 |
| L292 | 26 | 16 | PKHD1L1, PLEC, MLH1 | PKHD1L1 |
| L294 | 31 | 20 | PRSS16 | PRSS16 |
| L295 | 34 | 15 | 0 | 0 |
| L296 | 25 | 13 | 0 | 0 |
| L297 | 30 | 17 | SLC25A5 | 0 |
| L298 | 28 | 7 | BMP1 | 0 |
| L299 | 27 | 14 | ACOT4, GPR112, SLC25A5, UNC13C | ACOT4, GPR112 |
| N201 | 33 | 23 | ACOT4, SLC25A5, Z FYVE26 | ACOT4 |
| N202 | 27 | 13 | ACOT4, WFS1, SLC25A5 | ACOT4 |
| N203 | 33 | 13 | SLC25A5, SEPT1 | 0 |
| N204 | 34 | 14 | ACOT4 | ACOT4 |
| N205 | 28 | 15 | 0 | 0 |
| N206 | 34 | 18 | ACOT4 | ACOT4 |
| N207 | 29 | 17 | 0 | 0 |
| N208 | 23 | 12 | 0 | 0 |
| N210 | 33 | 18 | EPPK1 | 0 |
| N211 | 25 | 13 | GLTSCR1 | 0 |
| N212 | 25 | 11 | ACOT4 | ACOT4 |
| N213 | 27 | 10 | ACOT4, SLCS5A5 | ACOT4 |
| N214 | 19 | 6 | SLC25A5 | 0 |
| N216 | 75 | 21 | PENK, NUP214, KDM4C | PENK |
| N223 | 35 | 19 | OR10X1 | 0 |
| N224 | 38 | 22 | OR10X1 | 0 |
| N227 | 37 | 25 | KMT2C | 0 |
| N229 | 39 | 20 | 0 | 0 |
| N231 | 35 | 20 | BAI1, TTN, MTDH | BAI1 |
| N232 | 18 | 12 | KMT2C, PMFBP1 | 0 |
| N233 | 35 | 19 | 0 | 0 |
| N234 | 37 | 22 | CMYA5 | 0 |
| N235 | 42 | 22 | 0 | 0 |
aVariants with GERP > 2 and Polyphen > 0.5.