Table 4: Summary of EVS data on genes identified during literature review.
Gene | Disease | Total variation(No. alleles) | No. damaging | No. MAF > 0.5 |
EIF4G1 | MEN2A | 339 | 55 | 1 |
EGFR | MEN2 | 317 | 55 | 0 |
GNAS | MEN2A | 270 | 11 | 0 |
MENIN | MEN1 | 72 | 15 | 1 |
RET | MEN1/2, FMTC | 244 | 47 | 3 |
SDHB | Familial Pheochromocytoma | 62 | 6 | 1 |
SDHD | Familial Pheochromocytoma | 20 | 5 | 1 |