Table 1.
Gene | Mutation/total | Gene | Mutation/total | Gene | Mutation/total |
---|---|---|---|---|---|
ABCC5 | 1/20 | GATA6 | 1/20 | PGRMC1 | 2/20 |
ADAMTSL3 | 1/20 | GRIP1 | 1/20 | PIWIL1 | 1/20 |
AIRE | 1/20 | HK3 | 1/20 | PRDM1 | 2/20 |
ALMS1 | 1/20 | HSD17B4 | 1/20 | RAD54L | 1/20 |
AOX1 | 1/20 | KNTC1 | 2/20 | SOHLH1 | 2/20 |
ARFGAP3 | 1/20 | LATS1 | 1/20 | SPIDR | 2/20 |
BBS9 | 4/20 | LEPR | 1/20 | SPO11 | 1/20 |
BMP8B | 3/20 | LHX9 | 1/20 | STRA8 | 1/20 |
BMPR2 | 1/20 | LMNA | 1/20 | TBP | 1/20 |
CDC25B | 1/20 | MAP3K4 | 1/20 | TCF21 | 1/20 |
CNOT6 | 1/20 | MOGAT1 | 6/20 | THBS1 | 1/20 |
CYP26B1 | 4/20 | MSH6 | 2/20 | TOP3B | 1/20 |
DHRS11 | 1/20 | MYO19 | 2/20 | UMODL1 | 3/20 |
ERCC2 | 1/20 | NLRP11 | 2/20 | VCX | 4/20 |
ERCC6 | 1/20 | NOS3 | 1/20 | ZNF729 | 3/20 |
FANCA | 3/20 | NOTCH2 | 1/20 | ||
FANCL | 1/20 | PGAP3 | 2/20 |