Summary of literature search with comparison to exome sequencing data. Total counts of published variants by gene with count, associated frequency, and PolyPhen scores.

Table 1: Summary of literature search with comparison to exome sequencing data. Total counts of published variants by gene with count, associated frequency, and PolyPhen scores.

Gene	Disease	No. mutations	No. found in databases	No. benign	No. damaging	MAF > 0.5%
EIF4G1	MEN2A	1	0	-	-	-
EGFR	MEN2	1	0	-	-	-
GNAS	MEN2A	1	0	-	-	-
MENIN	MEN1	100	1	0	1	0
RET	MEN2, FMTC	65	46	10	33	8
SDHB	Familial pheochromocytoma	1	0	-	-	-
SDHD	Familial pheochromocytoma	1	0	-	-	-