PDE4DIP Gene Mutation Amino Acid substitution Het/Hom Prediction by PolyPhen 2 1,000 Genomes EXAC frequency
NC_000001.10:g.144931342C>T A123T Het Damaging Novel 2.47e-05
NC_000001.10:g.144877255T>C I1478V Het Damaging Novel 4.71e-04
NC_000001.10:g.144866687C>T R1852Q Het Damaging Novel 5.27e-04
NC_000001.10:g.144881520G>A R1226C Het Damaging Novel 5.77e-05