Table 5: List of exome sequencing variants which did not appear in the literature search which may be causative of disease.

Gene Mutation MAF (%) PolyPhen Note
EIF4G1 R1223H 1.13 0.999 MAF found in AA population
MENIN R176Q 1.54 0.995 MAF 2.1 among EA population
RET L56M 0.53 0.795 MAF found among EA populations
RET G446R 0.73 0.842 MAF found among AA population
RET R982C 1.62 1
SDHB c.166_170delCCTCA 0.68 0.874 MAF found among AA population
SDHD c.129G > A 0.63 0.985

The EVS reports MAF based on "European American" (EA) and "African American" (AA) populations. A MAF for any damaging variant for either population is reported here. When the MAF for only one population is reported, it is assumed that the total MAF was < 0.5.