TABLE 2.
Genes | Chromosome | SIFT | PolyPhen 2 | Mutation Taster | CCDS | Amino Acid |
ZNF528 | Chr19 | Tolerated | Benign | Polymorphism | A598G | S200G |
PVRL2 | Chr19 | Tolerated | Benign | Polymorphism | C214G | R72G |
MTHFR | Chr1 | Damaging | Probably damaging | Disease causing | G586A | G196S |
EVC2 | Chr4 | Tolerated | Benign | Polymorphism | G2623A | V875I |
DAND5 | Chr19 | Tolerated | Possibly damaging | Disease causing | G515A | R172Q |
CCDC39 | Chr3 | Tolerated | Benign | Polymorphism | G1035T | R345S |
CCDS, the consensus coding sequence; MTHFR, methylenetetrahydrofolate reductase.