Table 3: List of published variants which appear within exome sequencing databases at MAF > 0.5%.
Disease | Gene | Mutation | MAF | Polyphen 2 | Predicted impact(From publication) | Reference |
sMTC | RET | A45A | 0.191 | - | Synonymous | [13] |
sMTC | RET | A432A | 0.251 | - | Synonymous | [13] |
sMTC/MEN2 | RET | G691S | 0.157 | 0.103 | Benign | [10,13] |
sMTC/MEN2 | RET | L769L | 0.197 | - | Synonymous (c.2307T > G) | [10,13] |
sMTC | RET | S836S | 0.042 | - | Synonymous (c.2508C > T) | [13] |
sMTC/MEN2 | RET | S904S | 0.161 | - | Synonymous (c.2712C > G) | [10,13] |